Liptak GS, Garver K, Dosa NP. (2013) Spina bifida grown up. Journal of Developmental and Behavioral Pediatrics. 2013 Apr;34(3):206-15.
The majority of people with spina bifida
in the United States are now older than 18 years of age. Health care
delivery for adults with this condition should include routine
surveillance for common conditions such as hypertension, hyperlipidemia
and cancer. It should also address spina bifida-related
complications such as pressure sores, lymphedema, sexual dysfunction
and infertility, and hydrocephalus, as well as chiari-related symptoms
such as sleep apnea and urologic and renal functioning. Almost all adults with spina bifida benefit from regular followup with specialists in urology, neurosurgery and physiatry. Health care providers for adults with spina bifida
should recognize the impact of executive dysfunction and nonverbal
learning disability on self management, independent living, and
employment in adults with spina bifida.
doi: 10.1097/DBP.0b013e31828c5f88.
Showing posts with label Review. Show all posts
Showing posts with label Review. Show all posts
Thursday, December 26, 2013
Thursday, April 16, 2009
Pathobiology and genetics of neural tube defects.
Finnell RH, Gould A, Spiegelstein O. Pathobiology and genetics of neural tube defects. Epilepsia. 2003;44 Suppl 3:14-23. Review.
Institute of Biosciences and Technology, Texas A&M University System Health Science Center, Houston 77030-3303, USA. rfinnell@ibt.tamu.edu
PURPOSE: Neural tube defects (NTDs), including spina bifida and anencephaly, are common congenital malformations that occur when the neural tube fails to achieve proper closure during early embryogenesis. Based on epidemiological and clinical data obtained over the last few decades, it is apparent that these multifactorial defects have a significant genetic component to their etiology that interacts with specific environmental risk factors. The purpose of this review article is to synthesize the existing literature on the genetic factors contributing to NTD risk.
RESULTS: To date, there is evidence that closure of the mammalian neural tube initiates and fuses intermittently at four discrete locations. Disruption of this process at any of these four sites may lead to an NTD, possibly arising through closure site-specific genetic mechanisms. Candidate genes involved in neural tube closure include genes of the folate metabolic pathway, as well as those involved in folate transport.
CONCLUSIONS: Although extensive efforts have focused on elucidating the genetic risk factors contributing to the etiology of NTDs, the population burden for these malformations remains unknown. One group at high risk for having children with NTDs is epileptic women receiving antiepileptic medications during pregnancy. Efforts to better understand the genetic factors that may contribute to their heightened risk, as well as the pathogenesis of neural tube closure defects, are reviewed herein.
PMID: 12790882
Institute of Biosciences and Technology, Texas A&M University System Health Science Center, Houston 77030-3303, USA. rfinnell@ibt.tamu.edu
PURPOSE: Neural tube defects (NTDs), including spina bifida and anencephaly, are common congenital malformations that occur when the neural tube fails to achieve proper closure during early embryogenesis. Based on epidemiological and clinical data obtained over the last few decades, it is apparent that these multifactorial defects have a significant genetic component to their etiology that interacts with specific environmental risk factors. The purpose of this review article is to synthesize the existing literature on the genetic factors contributing to NTD risk.
RESULTS: To date, there is evidence that closure of the mammalian neural tube initiates and fuses intermittently at four discrete locations. Disruption of this process at any of these four sites may lead to an NTD, possibly arising through closure site-specific genetic mechanisms. Candidate genes involved in neural tube closure include genes of the folate metabolic pathway, as well as those involved in folate transport.
CONCLUSIONS: Although extensive efforts have focused on elucidating the genetic risk factors contributing to the etiology of NTDs, the population burden for these malformations remains unknown. One group at high risk for having children with NTDs is epileptic women receiving antiepileptic medications during pregnancy. Efforts to better understand the genetic factors that may contribute to their heightened risk, as well as the pathogenesis of neural tube closure defects, are reviewed herein.
PMID: 12790882
Pathophysiology, prevention, and potential treatment of neural tube defects
Manning SM, Jennings R, Madsen JR. Pathophysiology, prevention, and potential treatment of neural tube defects. Mental Retardation and Developmental Disabilities Research Reviews. 2000;6(1):6-14. Review.
Division of Newborn Medicine, Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA. manning_s@a1.tch.harvard.edu
Neural tube defects (NTD) remain a major cause of morbidity in spite of the reduction in liveborn incidence with periconceptional folic acid. However, the etiology remains unknown. This article reviews studies that address causation and potential treatment of NTD in humans and in animal models that resemble aspects of the common human NTD. Studies of nutritional markers of vitamin B12 and folic acid support a defect in homocysteine metabolism; a thermolabile variant of methylene tetrahydrofolate reductase, an enzyme that remethylates homocysteine to methionine, correlates with a risk of NTD in some human populations. Numerous mouse mutant models of NTD exist, attesting to the ease of disruption of neurulation, and a genetic basis for this malformation. Of these models, the curly tail mouse mutant most closely resembles the common human NTD. Folic acid does not prevent NTD in this model; however inositol supplementation does result in a significant reduction in incidence. Recent advances in fetal surgery, and evidence from mechanically created myelomeningocele in large animals amenable to surgical intervention suggest that the handicaps associated with myelomeningocele and associated Chiari Type II malformation may be prevented by in utero NTD closure. Success will depend on preservation of neurological tissue until such intervention is possible. Further research in animal models at the genetic and cellular levels, together with technological surgical advances, provide hope that prevention of more NTD and the associated handicaps may be possible. MRDD Research Reviews 6:6-14, 2000. Copyright 2000 Wiley-Liss, Inc.
PMID: 10899792
Division of Newborn Medicine, Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA. manning_s@a1.tch.harvard.edu
Neural tube defects (NTD) remain a major cause of morbidity in spite of the reduction in liveborn incidence with periconceptional folic acid. However, the etiology remains unknown. This article reviews studies that address causation and potential treatment of NTD in humans and in animal models that resemble aspects of the common human NTD. Studies of nutritional markers of vitamin B12 and folic acid support a defect in homocysteine metabolism; a thermolabile variant of methylene tetrahydrofolate reductase, an enzyme that remethylates homocysteine to methionine, correlates with a risk of NTD in some human populations. Numerous mouse mutant models of NTD exist, attesting to the ease of disruption of neurulation, and a genetic basis for this malformation. Of these models, the curly tail mouse mutant most closely resembles the common human NTD. Folic acid does not prevent NTD in this model; however inositol supplementation does result in a significant reduction in incidence. Recent advances in fetal surgery, and evidence from mechanically created myelomeningocele in large animals amenable to surgical intervention suggest that the handicaps associated with myelomeningocele and associated Chiari Type II malformation may be prevented by in utero NTD closure. Success will depend on preservation of neurological tissue until such intervention is possible. Further research in animal models at the genetic and cellular levels, together with technological surgical advances, provide hope that prevention of more NTD and the associated handicaps may be possible. MRDD Research Reviews 6:6-14, 2000. Copyright 2000 Wiley-Liss, Inc.
PMID: 10899792
Epidemiology of neural tube defects.
Frey L, Hauser WA. Epidemiology of neural tube defects. Epilepsia. 2003;44 Suppl 3:4-13. Review.
Department of Neurology, G. H. Sergievsky Center, College of Physicians & Surgeons, Columbia University, New York, New York 10032, USA.
Neural tube defects (NTDs)-malformations secondary to abnormal neural tube closure between the third and fourth weeks of gestational age-have a complex and imperfectly understood etiology in which both genetic and environmental factors appear to be involved. A number of specific chromosomal or single-gene disorders, presumably not affected by environmental influences, are associated with the development of NTDs, but such syndromal cases account for a small proportion of NTDs in live-born infants. Analysis of recurrence patterns within families and of twin-concordance data provides evidence of a genetic influence in nonsyndromal cases, but factors such as socioeconomic status and geographic area (independent of race or ethnicity) are also associated with variations in the incidence of NTDs. The prevalence at birth of both anencephaly and spina bifida has decreased, but the advent of antenatal diagnosis and elective termination of affected pregnancies has undermined the reliability of birth prevalence rate as an estimate of incidence. Some occupational and other exposures, including maternal use of antiepileptic drugs (AEDs), are associated with increased risk for NTDs. Among women who have had an NTD-affected pregnancy, recurrence risk is markedly higher than the risk for a first NTD-affected pregnancy in the general population. There is strong evidence, overall, for a protective effect of adequate folate consumption. In some high-risk groups, however, such as women taking AEDs, folate supplementation has not been proven to reduce NTD risk.
PMID: 12790881
Department of Neurology, G. H. Sergievsky Center, College of Physicians & Surgeons, Columbia University, New York, New York 10032, USA.
Neural tube defects (NTDs)-malformations secondary to abnormal neural tube closure between the third and fourth weeks of gestational age-have a complex and imperfectly understood etiology in which both genetic and environmental factors appear to be involved. A number of specific chromosomal or single-gene disorders, presumably not affected by environmental influences, are associated with the development of NTDs, but such syndromal cases account for a small proportion of NTDs in live-born infants. Analysis of recurrence patterns within families and of twin-concordance data provides evidence of a genetic influence in nonsyndromal cases, but factors such as socioeconomic status and geographic area (independent of race or ethnicity) are also associated with variations in the incidence of NTDs. The prevalence at birth of both anencephaly and spina bifida has decreased, but the advent of antenatal diagnosis and elective termination of affected pregnancies has undermined the reliability of birth prevalence rate as an estimate of incidence. Some occupational and other exposures, including maternal use of antiepileptic drugs (AEDs), are associated with increased risk for NTDs. Among women who have had an NTD-affected pregnancy, recurrence risk is markedly higher than the risk for a first NTD-affected pregnancy in the general population. There is strong evidence, overall, for a protective effect of adequate folate consumption. In some high-risk groups, however, such as women taking AEDs, folate supplementation has not been proven to reduce NTD risk.
PMID: 12790881
Spina bifida and other neural tube defects
Northrup H, Volcik KA. Spina bifida and other neural tube defects. Current Problems in Pediatrics. 2000 Nov-Dec;30(10):313-32. Review.
Department of Pediatrics, Division of Medical Genetics, University of Texas Medical School, Houston, Texas, USA.
NTDs, resulting from failure of the neural tube to close during the fourth week of embryogenesis, are the most common severely disabling birth defects in the United States, with a frequency of approximately 1 of every 2000 births. Neural tube malformations involving the spinal cord and vertebral arches are referred to as spina bifida, with severe types of spina bifida involving protrusion of the spinal cord and/or meninges through a defect in the vertebral arch. Depending on the level of the lesion, interruption of the spinal cord at the site of the spina bifida defect causes paralysis of the legs, incontinence of urine and feces, anesthesia of the skin, and abnormalities of the hips, knees, and feet. Two additional abnormalities often seen in children with spina bifida include hydrocephalus and the Arnold-Chiari type II malformation. Despite the physical and particular learning disabilities children with spina bifida must cope with, participation in individualized educational programs can allow these children to develop skills necessary for autonomy in adulthood. Advances in research to uncover the molecular basis of NTDs is enhanced by knowledge of the link between both the environmental and genetic factors involved in the etiology of NTDs. The most recent development in NTD research for disease-causing genes is the discovery of a genetic link to the most well-known environmental cause of neural tube malformation, folate deficiency in pregnant women. Nearly a decade ago, periconceptional folic acid supplementation was proven to decrease both the recurrence and occurrence of NTDs. The study of folate and its association with NTDs is an ongoing endeavor that has led to numerous studies of different genes involved in the folate metabolism pathway, including the most commonly studied thermolabile mutation (C677T) in the MTHFR gene. An additional focus for NTD research involves mouse models that exhibit both naturally occurring NTDs, as well as those created by experimental design. We hope the search for genes involved in the risk and/or development of NTDs will lead to the development of strategies for prevention and treatment. The most recent achievement in treatment of NTDs involves the repair of meningomyelocele through advancements in fetal surgery. Convincing experimental evidence exists that in utero repair preserves neurologic function, as well as resolving the hydrocephalus and Arnold-Chiari malformation that often accompany meningomyelocele defects. However, follow-up is needed to completely evaluate long-term neurologic function and overall improved quality of life. And in the words of Olutoye and Adzick, "until the benefits of fetal [meningomyelocele] repair are carefully elucidated, weighed against maternal and fetal risks, and compared to conventional postnatal therapy, this procedure should be restricted to a few centers that are committed (clinically and experimentally) to investigating these issues."
PMID: 11147289
Department of Pediatrics, Division of Medical Genetics, University of Texas Medical School, Houston, Texas, USA.
NTDs, resulting from failure of the neural tube to close during the fourth week of embryogenesis, are the most common severely disabling birth defects in the United States, with a frequency of approximately 1 of every 2000 births. Neural tube malformations involving the spinal cord and vertebral arches are referred to as spina bifida, with severe types of spina bifida involving protrusion of the spinal cord and/or meninges through a defect in the vertebral arch. Depending on the level of the lesion, interruption of the spinal cord at the site of the spina bifida defect causes paralysis of the legs, incontinence of urine and feces, anesthesia of the skin, and abnormalities of the hips, knees, and feet. Two additional abnormalities often seen in children with spina bifida include hydrocephalus and the Arnold-Chiari type II malformation. Despite the physical and particular learning disabilities children with spina bifida must cope with, participation in individualized educational programs can allow these children to develop skills necessary for autonomy in adulthood. Advances in research to uncover the molecular basis of NTDs is enhanced by knowledge of the link between both the environmental and genetic factors involved in the etiology of NTDs. The most recent development in NTD research for disease-causing genes is the discovery of a genetic link to the most well-known environmental cause of neural tube malformation, folate deficiency in pregnant women. Nearly a decade ago, periconceptional folic acid supplementation was proven to decrease both the recurrence and occurrence of NTDs. The study of folate and its association with NTDs is an ongoing endeavor that has led to numerous studies of different genes involved in the folate metabolism pathway, including the most commonly studied thermolabile mutation (C677T) in the MTHFR gene. An additional focus for NTD research involves mouse models that exhibit both naturally occurring NTDs, as well as those created by experimental design. We hope the search for genes involved in the risk and/or development of NTDs will lead to the development of strategies for prevention and treatment. The most recent achievement in treatment of NTDs involves the repair of meningomyelocele through advancements in fetal surgery. Convincing experimental evidence exists that in utero repair preserves neurologic function, as well as resolving the hydrocephalus and Arnold-Chiari malformation that often accompany meningomyelocele defects. However, follow-up is needed to completely evaluate long-term neurologic function and overall improved quality of life. And in the words of Olutoye and Adzick, "until the benefits of fetal [meningomyelocele] repair are carefully elucidated, weighed against maternal and fetal risks, and compared to conventional postnatal therapy, this procedure should be restricted to a few centers that are committed (clinically and experimentally) to investigating these issues."
PMID: 11147289
Etiology, pathogenesis and prevention of neural tube defects.
Padmanabhan R. Etiology, pathogenesis and prevention of neural tube defects.
Congenit Anom (Kyoto). 2006 Jun;46(2):55-67. Review.
Department of Anatomy, Faculty of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates. padmanabhanr@uaeu.ac.ae
Spina bifida, anencephaly, and encephalocele are commonly grouped together and termed neural tube defects (NTD). Failure of closure of the neural tube during development results in anencephaly or spina bifida aperta but encephaloceles are possibly post-closure defects. NTD are associated with a number of other central nervous system (CNS) and non-neural malformations. Racial, geographic and seasonal variations seem to affect their incidence. Etiology of NTD is unknown. Most of the non-syndromic NTD are of multifactorial origin. Recent in vitro and in vivo studies have highlighted the molecular mechanisms of neurulation in vertebrates but the morphologic development of human neural tube is poorly understood. A multisite closure theory, extrapolated directly from mouse experiments highlighted the clinical relevance of closure mechanisms to human NTD. Animal models, such as circle tail, curly tail, loop tail, shrm and numerous knockouts provide some insight into the mechanisms of NTD. Also available in the literature are a plethora of chemically induced preclosure and a few post-closure models of NTD, which highlight the fact that CNS malformations are of hetergeneitic nature. No Mendelian pattern of inheritance has been reported. Association with single gene defects, enhanced recurrence risk among siblings, and a higher frequency in twins than in singletons indicate the presence of a strong genetic contribution to the etiology of NTD. Non-availability of families with a significant number of NTD cases makes research into genetic causation of NTD difficult. Case reports and epidemiologic studies have implicated a number of chemicals, widely differing therapeutic drugs, environmental contaminants, pollutants, infectious agents, and solvents. Maternal hyperthermia, use of valproate by epileptic women during pregnancy, deficiency and excess of certain nutrients and chronic maternal diseases (e.g. diabetes mellitus) are reported to cause a manifold increase in the incidence of NTD. A host of suspected teratogens are also available in the literature. The UK and Hungarian studies showed that periconceptional supplementation of women with folate (FA) reduces significantly both the first occurrence and recurrence of NTD in the offspring. This led to mandatory periconceptional FA supplementation in a number of countries. Encouraged by the results of clinical studies, numerous laboratory investigations focused on the genes involved in the FA, vitamin B12 and homocysteine metabolism during neural tube development. As of today no clinical or experimental study has provided unequivocal evidence for a definitive role for any of these genes in the causation of NTD suggesting that a multitude of genes, growth factors and receptors interact in controlling neural tube development by yet unknown mechanisms. Future studies must address issues of gene-gene, gene-nutrient and gene-environment interactions in the pathogenesis of NTD.
PMID: 16732763
Congenit Anom (Kyoto). 2006 Jun;46(2):55-67. Review.
Department of Anatomy, Faculty of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates. padmanabhanr@uaeu.ac.ae
Spina bifida, anencephaly, and encephalocele are commonly grouped together and termed neural tube defects (NTD). Failure of closure of the neural tube during development results in anencephaly or spina bifida aperta but encephaloceles are possibly post-closure defects. NTD are associated with a number of other central nervous system (CNS) and non-neural malformations. Racial, geographic and seasonal variations seem to affect their incidence. Etiology of NTD is unknown. Most of the non-syndromic NTD are of multifactorial origin. Recent in vitro and in vivo studies have highlighted the molecular mechanisms of neurulation in vertebrates but the morphologic development of human neural tube is poorly understood. A multisite closure theory, extrapolated directly from mouse experiments highlighted the clinical relevance of closure mechanisms to human NTD. Animal models, such as circle tail, curly tail, loop tail, shrm and numerous knockouts provide some insight into the mechanisms of NTD. Also available in the literature are a plethora of chemically induced preclosure and a few post-closure models of NTD, which highlight the fact that CNS malformations are of hetergeneitic nature. No Mendelian pattern of inheritance has been reported. Association with single gene defects, enhanced recurrence risk among siblings, and a higher frequency in twins than in singletons indicate the presence of a strong genetic contribution to the etiology of NTD. Non-availability of families with a significant number of NTD cases makes research into genetic causation of NTD difficult. Case reports and epidemiologic studies have implicated a number of chemicals, widely differing therapeutic drugs, environmental contaminants, pollutants, infectious agents, and solvents. Maternal hyperthermia, use of valproate by epileptic women during pregnancy, deficiency and excess of certain nutrients and chronic maternal diseases (e.g. diabetes mellitus) are reported to cause a manifold increase in the incidence of NTD. A host of suspected teratogens are also available in the literature. The UK and Hungarian studies showed that periconceptional supplementation of women with folate (FA) reduces significantly both the first occurrence and recurrence of NTD in the offspring. This led to mandatory periconceptional FA supplementation in a number of countries. Encouraged by the results of clinical studies, numerous laboratory investigations focused on the genes involved in the FA, vitamin B12 and homocysteine metabolism during neural tube development. As of today no clinical or experimental study has provided unequivocal evidence for a definitive role for any of these genes in the causation of NTD suggesting that a multitude of genes, growth factors and receptors interact in controlling neural tube development by yet unknown mechanisms. Future studies must address issues of gene-gene, gene-nutrient and gene-environment interactions in the pathogenesis of NTD.
PMID: 16732763
Monday, March 16, 2009
The Chiari malformations: A constellation of anomalies
Robert M. Shuman RM. (1995) The Chiari malformations: A constellation of anomalies. Seminars in Pediatric Neurology. 1995 Sep;2(3):220-6. Review.
The Chiari malformations form a group of abnormalities that are pathogenetically interrelated. The most important member of the group is the Chiari type II malformation, known as the Arnold-Chiari malformation. Its cardinal features are the myelomeningocele in the thoraco-lumbar spine, the venting of the intracranial cerebrospinal fluid through the central canal, the hypoplasia of the posterior fossa, the herniation of hindbrain into the cervical spinal canal, and the compressive damage to cranial nerves. Some of the abnormalities are progressive, and thus treatable. Limitation of progression may improve outcomes. The challenges to our treatment programs involve early diagnosis, delivery by Caesarean section, emergent closure of the neural plaque and prophylaxis of hydrocephalus, anticipatory prevention of the neurological compression syndromes, multidisciplinary teams, and age-appropriate interventions.
The Chiari malformations form a group of abnormalities that are pathogenetically interrelated. The most important member of the group is the Chiari type II malformation, known as the Arnold-Chiari malformation. Its cardinal features are the myelomeningocele in the thoraco-lumbar spine, the venting of the intracranial cerebrospinal fluid through the central canal, the hypoplasia of the posterior fossa, the herniation of hindbrain into the cervical spinal canal, and the compressive damage to cranial nerves. Some of the abnormalities are progressive, and thus treatable. Limitation of progression may improve outcomes. The challenges to our treatment programs involve early diagnosis, delivery by Caesarean section, emergent closure of the neural plaque and prophylaxis of hydrocephalus, anticipatory prevention of the neurological compression syndromes, multidisciplinary teams, and age-appropriate interventions.
The Natural History of Spina Bifida Cystica: Detailed Analysis of 407 Cases
K. M. Laurence The Natural History of Spina Bifida Cystica: Detailed Analysis of 407 Cases Archives of Disease in Childhood. 1964 February; 39(203): 41–57.
Tuesday, February 24, 2009
Maternal overweight and obesity and the risk of congenital anomalies: a systematic review and meta-analysis.
Stothard KJ, Tennant PW, Bell R, Rankin J. (2009) Maternal overweight and obesity and the risk of congenital anomalies: a systematic review and meta-analysis.
JAMA. 2009 Feb 11;301(6):636-50. Review.
Institute of Health and Society, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom NE2 4HH.
CONTEXT: Evidence suggests an association between maternal obesity and some congenital anomalies.
OBJECTIVE: To assess current evidence of the association between maternal overweight, maternal obesity, and congenital anomaly.
DATA SOURCES: MEDLINE, EMBASE, CINAHL, and Scopus (January 1966 through May 2008) were searched for English-language studies using a list of keywords. Reference lists from relevant review articles were also searched.
STUDY SELECTION: Observational studies with an estimate of prepregnancy or early pregnancy weight or body mass index (BMI) and data on congenital anomalies were considered. Of 1944 potential articles, 39 were included in the systematic review and 18 in the meta-analysis. Data Extraction and Synthesis Information was extracted on study design, quality, participants, congenital anomaly groups and subtypes, and risk estimates. Pooled odds ratios (ORs) comparing risk among overweight, obese, and recommended-weight mothers (defined by BMI) were determined for congenital anomaly groups and subtypes for which at least 150 cases had been reported in the literature.
RESULTS: Pooled ORs for overweight and obesity were calculated for 16 and 15 anomaly groups or subtypes, respectively. Compared with mothers of recommended BMI, obese mothers were at increased odds of pregnancies affected by neural tube defects (OR, 1.87; 95% confidence interval [CI], 1.62-2.15), spina bifida (OR, 2.24; 95% CI, 1.86-2.69), cardiovascular anomalies (OR, 1.30; 95% CI, 1.12-1.51), septal anomalies (OR, 1.20; 95% CI, 1.09-1.31), cleft palate (OR, 1.23; 95% CI, 1.03-1.47), cleft lip and palate (OR, 1.20; 95% CI, 1.03-1.40), anorectal atresia (OR, 1.48; 95% CI, 1.12-1.97), hydrocephaly (OR, 1.68; 95% CI, 1.19-2.36), and limb reduction anomalies (OR, 1.34; 95% CI, 1.03-1.73). The risk of gastroschisis among obese mothers was significantly reduced (OR, 0.17; 95% CI, 0.10-0.30).
CONCLUSIONS: Maternal obesity is associated with an increased risk of a range of structural anomalies, although the absolute increase is likely to be small. Further studies are needed to confirm whether maternal overweight is also implicated.
PMID: 19211471
JAMA. 2009 Feb 11;301(6):636-50. Review.
Institute of Health and Society, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom NE2 4HH.
CONTEXT: Evidence suggests an association between maternal obesity and some congenital anomalies.
OBJECTIVE: To assess current evidence of the association between maternal overweight, maternal obesity, and congenital anomaly.
DATA SOURCES: MEDLINE, EMBASE, CINAHL, and Scopus (January 1966 through May 2008) were searched for English-language studies using a list of keywords. Reference lists from relevant review articles were also searched.
STUDY SELECTION: Observational studies with an estimate of prepregnancy or early pregnancy weight or body mass index (BMI) and data on congenital anomalies were considered. Of 1944 potential articles, 39 were included in the systematic review and 18 in the meta-analysis. Data Extraction and Synthesis Information was extracted on study design, quality, participants, congenital anomaly groups and subtypes, and risk estimates. Pooled odds ratios (ORs) comparing risk among overweight, obese, and recommended-weight mothers (defined by BMI) were determined for congenital anomaly groups and subtypes for which at least 150 cases had been reported in the literature.
RESULTS: Pooled ORs for overweight and obesity were calculated for 16 and 15 anomaly groups or subtypes, respectively. Compared with mothers of recommended BMI, obese mothers were at increased odds of pregnancies affected by neural tube defects (OR, 1.87; 95% confidence interval [CI], 1.62-2.15), spina bifida (OR, 2.24; 95% CI, 1.86-2.69), cardiovascular anomalies (OR, 1.30; 95% CI, 1.12-1.51), septal anomalies (OR, 1.20; 95% CI, 1.09-1.31), cleft palate (OR, 1.23; 95% CI, 1.03-1.47), cleft lip and palate (OR, 1.20; 95% CI, 1.03-1.40), anorectal atresia (OR, 1.48; 95% CI, 1.12-1.97), hydrocephaly (OR, 1.68; 95% CI, 1.19-2.36), and limb reduction anomalies (OR, 1.34; 95% CI, 1.03-1.73). The risk of gastroschisis among obese mothers was significantly reduced (OR, 0.17; 95% CI, 0.10-0.30).
CONCLUSIONS: Maternal obesity is associated with an increased risk of a range of structural anomalies, although the absolute increase is likely to be small. Further studies are needed to confirm whether maternal overweight is also implicated.
PMID: 19211471
Monday, November 10, 2008
Evaluating Outcomes of Enterocystoplasty in Patients With Spina Bifida: A Review of the Literature
Scales CD Jr, Wiener JS. Evaluating Outcomes of Enterocystoplasty in Patients With Spina Bifida: A Review of the Literature. Journal of Urology. 2008 Oct 16.
Duke University Medical Center, Durham, North Carolina.
PURPOSE: The urological complications of spina bifida impose a significant burden of disability and disease. Therapy is focused on the bladder to achieve the primary goals of maintaining normal renal function and attaining urinary continence. When medical management fails, surgical intervention, including enterocystoplasty, is frequently performed. However, practice patterns for enterocystoplasty show significant variation. Given this context, we examined outcome measures for enterocystoplasty in patients with spina bifida.
MATERIALS AND METHODS: A MEDLINE(R) search was performed for articles on enterocystoplasty in patients with spina bifida. A total of 226 articles were identified and manually reviewed for relevant studies. Additional articles were selected based on a cited reference search. RESULTS: Almost all studies are retrospective, single institution case series of a relatively small number of patients. Few uniform or validated outcome measures for enterocystoplasty exist but reported measures typically include urodynamic, continence and satisfaction parameters. Interinstitutional variability in urodynamic measurements and in definitions of continence makes a comparison of outcomes difficult. The complication rate following enterocystoplasty is significant, well described and primarily related to the use of gastrointestinal segments for urine storage.
CONCLUSIONS: Medical management is the mainstay of neurogenic bladder therapy in the spina bifida population. Enterocystoplasty remains an important option to prevent or reverse upper tract deterioration, and/or improve or cure socially unacceptable incontinence despite poorly defined outcome measures. The development of appropriate and validated outcomes measures may enable more uniform, effective and safe urological care of patients with spina bifida.
PMID: 18930285
Duke University Medical Center, Durham, North Carolina.
PURPOSE: The urological complications of spina bifida impose a significant burden of disability and disease. Therapy is focused on the bladder to achieve the primary goals of maintaining normal renal function and attaining urinary continence. When medical management fails, surgical intervention, including enterocystoplasty, is frequently performed. However, practice patterns for enterocystoplasty show significant variation. Given this context, we examined outcome measures for enterocystoplasty in patients with spina bifida.
MATERIALS AND METHODS: A MEDLINE(R) search was performed for articles on enterocystoplasty in patients with spina bifida. A total of 226 articles were identified and manually reviewed for relevant studies. Additional articles were selected based on a cited reference search. RESULTS: Almost all studies are retrospective, single institution case series of a relatively small number of patients. Few uniform or validated outcome measures for enterocystoplasty exist but reported measures typically include urodynamic, continence and satisfaction parameters. Interinstitutional variability in urodynamic measurements and in definitions of continence makes a comparison of outcomes difficult. The complication rate following enterocystoplasty is significant, well described and primarily related to the use of gastrointestinal segments for urine storage.
CONCLUSIONS: Medical management is the mainstay of neurogenic bladder therapy in the spina bifida population. Enterocystoplasty remains an important option to prevent or reverse upper tract deterioration, and/or improve or cure socially unacceptable incontinence despite poorly defined outcome measures. The development of appropriate and validated outcomes measures may enable more uniform, effective and safe urological care of patients with spina bifida.
PMID: 18930285
The management of the failed bladder neck procedure in patients with spina bifida
Walker RD. The management of the failed bladder neck procedure in patients with spina bifida. BJU International (Journal of the British Association of Urological Surgeons).. 2003 Oct;92 Suppl 1:35-7. Review.
Urinary incontinence secondary to decreased outlet resistance is common in patients with spina bifida. Most often these patients require both augmentation cystoplasty and a procedure to increase resistance at the bladder neck. The choices for operations to increase bladder neck resistance include the artificial urinary sphincter (AUS), the Kropp and Leadbetter procedures (and variations) and bladder neck wraps or slings. Bladder neck injection with bulking agents has also been used but the long-term results are unknown and most authors do not address what to do when the procedure fails. While the short-term success with each of the open procedures has been good, the longer-term success has been less satisfactory. The purpose of this study is twofold; to review the author's experience with those patients in whom a rectus fascial wrap has failed and in the discussion, to review how others have
managed the failures in procedures that they have advocated.
PMID: 12969007
Urinary incontinence secondary to decreased outlet resistance is common in patients with spina bifida. Most often these patients require both augmentation cystoplasty and a procedure to increase resistance at the bladder neck. The choices for operations to increase bladder neck resistance include the artificial urinary sphincter (AUS), the Kropp and Leadbetter procedures (and variations) and bladder neck wraps or slings. Bladder neck injection with bulking agents has also been used but the long-term results are unknown and most authors do not address what to do when the procedure fails. While the short-term success with each of the open procedures has been good, the longer-term success has been less satisfactory. The purpose of this study is twofold; to review the author's experience with those patients in whom a rectus fascial wrap has failed and in the discussion, to review how others have
managed the failures in procedures that they have advocated.
PMID: 12969007
Intravesical oxybutynin for children with poorly compliant neurogenic bladder: a systematic review.
Guerra LA, Moher D, Sampson M, Barrowman N, Pike J, Leonard M. Intravesical oxybutynin for children with poorly compliant neurogenic bladder: a systematic review. Journal of Urology. 2008 Sep;180(3):1091-7. Review.
Division of Pediatric Urology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada. lguerra@uottawa.ca
PURPOSE: Children with neurogenic bladder and poor bladder compliance are usually treated with bladder catheterization and oral anticholinergic medication. They may become nonresponders to the drug or present with severe side effects. We evaluated the effectiveness and tolerability of intravesical oxybutynin in children with poorly compliant neurogenic bladder.
MATERIALS AND METHODS: We conducted a search of MEDLINE, EMBASE, CINAHL, SciELO, dissertations/theses in ProQuest, LILACS, the Cochrane Library, protocol registries and the gray literature. Two reviewers independently assessed study quality and extracted data.
RESULTS: Eight studies (2 prospective, 6 retrospective) assessed the effectiveness and side effects of intravesical oxybutynin in children with neurogenic bladder. A total of 297 children started treatment, of whom 22% (66 patients) discontinued therapy, with 9% (28) quitting due to systemic side effects. Mean change in bladder compliance (primary outcome) was reported in only 2 studies (+7.4 and +7.5 ml/cm H(2)O). The pooled mean change in pressure at maximum bladder capacity was -16.4 cm H(2)O (95% CI -22.8 to -10.0). Incontinence improved significantly in most studies, with "dry and improved" rates ranging from 61% to 83%. The funnel plot of pressure at maximum bladder capacity suggested no publication bias.
CONCLUSIONS: Adjunctive intravesical oxybutynin therapy increased mean maximum bladder capacity and decreased bladder pressure in children with neurogenic bladder. However, identified studies offered a low level of evidence, with most being poorly reported retrospective case series with potential biases. Although the incidence of side effects was lower with the intravesical route, side effects are still possible and should be discussed with patients and families. The evidence available is insufficient to recommend this therapy. Research of more sound study design such as a randomized controlled trial should be conducted to assess the efficacy and side effects of intravesical oxybutynin in children.
PMID: 18639290
Division of Pediatric Urology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada. lguerra@uottawa.ca
PURPOSE: Children with neurogenic bladder and poor bladder compliance are usually treated with bladder catheterization and oral anticholinergic medication. They may become nonresponders to the drug or present with severe side effects. We evaluated the effectiveness and tolerability of intravesical oxybutynin in children with poorly compliant neurogenic bladder.
MATERIALS AND METHODS: We conducted a search of MEDLINE, EMBASE, CINAHL, SciELO, dissertations/theses in ProQuest, LILACS, the Cochrane Library, protocol registries and the gray literature. Two reviewers independently assessed study quality and extracted data.
RESULTS: Eight studies (2 prospective, 6 retrospective) assessed the effectiveness and side effects of intravesical oxybutynin in children with neurogenic bladder. A total of 297 children started treatment, of whom 22% (66 patients) discontinued therapy, with 9% (28) quitting due to systemic side effects. Mean change in bladder compliance (primary outcome) was reported in only 2 studies (+7.4 and +7.5 ml/cm H(2)O). The pooled mean change in pressure at maximum bladder capacity was -16.4 cm H(2)O (95% CI -22.8 to -10.0). Incontinence improved significantly in most studies, with "dry and improved" rates ranging from 61% to 83%. The funnel plot of pressure at maximum bladder capacity suggested no publication bias.
CONCLUSIONS: Adjunctive intravesical oxybutynin therapy increased mean maximum bladder capacity and decreased bladder pressure in children with neurogenic bladder. However, identified studies offered a low level of evidence, with most being poorly reported retrospective case series with potential biases. Although the incidence of side effects was lower with the intravesical route, side effects are still possible and should be discussed with patients and families. The evidence available is insufficient to recommend this therapy. Research of more sound study design such as a randomized controlled trial should be conducted to assess the efficacy and side effects of intravesical oxybutynin in children.
PMID: 18639290
Friday, September 19, 2008
The Malone Antegrade Continence Enema: Single Institutional Review
Ahmad H. Bani-Hani, Mark P. Cain, Martin Kaefer, Kirstan K. Meldrum, Shelly King, Cynthia S. Johnson, Richard C. Rink The Malone Antegrade Continence Enema: Single Institutional Review The Journal of Urology, Volume 180, Issue 3, September 2008, Pages 1106-1110
Purpose: We report the long-term outcome of the Malone antegrade continence enema procedure in the treatment of chronic constipation and fecal incontinence in children with neuropathic bowel.
Materials and Methods: We performed a retrospective chart review of 256 Malone antegrade continence enema procedures. Patient age at surgery, bowel segment used, location of stoma, number and type of revisions required, and fecal continence
were documented and a database was created.
Results: A total of 236 patients with at least 6 months of followup are included in this report. There were 172 in situ appendicocecostomies, 23 split appendix channels, 9 appendicocecostomies with cecal extension, 22 Yang-Monti ileocecostomies and 10 colon flap channels performed. A total of 112 males (47%) and 124 females (53%) were included in the study. Median patient age at surgery was 9 years (range 2 to 36) and median followup for the entire cohort was 50 months (6 to 115). A total of 56 surgical revisions were performed in 39 patients (17%). Median time to first revision was 9.5 months (range 1 to 105). Stomal stenosis occurred in 32 patients (14%). Overall, surgical revisions were required in 14% of in situ appendix channels (24 of 172), 22% of split appendix channels (5 of 23), 33% of appendix channels with cecal extension (3 of 9), 18% of Yang-Monti Malone antegrade continence enema channels (4 of 22) and 30% of colon flap channels (3 of 10). Independent of channel technique, surgical revisions were required in 15% of umbilical stomas and 18% of lower quadrant stomas (p = 0.516). Two patients had minimal stomal leakage, and 94% (221 of 236) achieved fecal continence with irrigations.
Conclusions: The long-term results of the Malone antegrade continence enema channel in a large cohort of patients with neuropathic bowel and chronic constipation are encouraging. Of the patients 17% will require revision surgery, and patients/parents should be counseled accordingly. In our series in situ appendicocecostomy had the lowest revision rate on long-term followup, although the difference was not statistically significant (p = 0.226).
Key Words: appendix, constipation, enema, spina bifida cystica, surgical stomas
Purpose: We report the long-term outcome of the Malone antegrade continence enema procedure in the treatment of chronic constipation and fecal incontinence in children with neuropathic bowel.
Materials and Methods: We performed a retrospective chart review of 256 Malone antegrade continence enema procedures. Patient age at surgery, bowel segment used, location of stoma, number and type of revisions required, and fecal continence
were documented and a database was created.
Results: A total of 236 patients with at least 6 months of followup are included in this report. There were 172 in situ appendicocecostomies, 23 split appendix channels, 9 appendicocecostomies with cecal extension, 22 Yang-Monti ileocecostomies and 10 colon flap channels performed. A total of 112 males (47%) and 124 females (53%) were included in the study. Median patient age at surgery was 9 years (range 2 to 36) and median followup for the entire cohort was 50 months (6 to 115). A total of 56 surgical revisions were performed in 39 patients (17%). Median time to first revision was 9.5 months (range 1 to 105). Stomal stenosis occurred in 32 patients (14%). Overall, surgical revisions were required in 14% of in situ appendix channels (24 of 172), 22% of split appendix channels (5 of 23), 33% of appendix channels with cecal extension (3 of 9), 18% of Yang-Monti Malone antegrade continence enema channels (4 of 22) and 30% of colon flap channels (3 of 10). Independent of channel technique, surgical revisions were required in 15% of umbilical stomas and 18% of lower quadrant stomas (p = 0.516). Two patients had minimal stomal leakage, and 94% (221 of 236) achieved fecal continence with irrigations.
Conclusions: The long-term results of the Malone antegrade continence enema channel in a large cohort of patients with neuropathic bowel and chronic constipation are encouraging. Of the patients 17% will require revision surgery, and patients/parents should be counseled accordingly. In our series in situ appendicocecostomy had the lowest revision rate on long-term followup, although the difference was not statistically significant (p = 0.226).
Key Words: appendix, constipation, enema, spina bifida cystica, surgical stomas
Wednesday, January 30, 2008
Neurosurgical management of myelomeningocele (spina bifida).
Dias, MS. Neurosurgical management of myelomeningocele (spina bifida). Pediatrics in Review. 2005 Feb;26(2):50-60; discussion 50-60.
PMID: 15687475
Full Text
PMID: 15687475
Full Text
Friday, January 18, 2008
Mini-review: toward understanding mechanisms of genetic neural tube defects in mice
Harris MJ, Juriloff DM. Mini-review: toward understanding mechanisms of genetic neural tube defects in mice. Teratology. 1999 Nov;60(5):292-305. Review.
We review the data from studies of mouse mutants that lend insight to the mechanisms that lead to neural tube defects (NTDs). Most of the 50 single-gene mutations that cause neural tube defects (NTDs) in mice also cause severe embryonic-lethal syndromes, in which exencephaly is a nonspecific feature. In a few mutants (e.g., Trp53, Macs, Mlp or Sp), other defects may be present, but affected fetuses can survive to birth. Multifactorial genetic causes, as are present in the curly tail stock (15-20% spina bifida), or the SELH/Bc strain (15-20% exencephaly), lead to nonsyndromic NTDs. The mutations indicate that "spina bifida occulta," a dorsal gap in the vertebral arches over an intact neural tube, is usually genetically and developmentally unrelated to exencephaly or "spina bifida" (aperta). Almost all exencephaly or spina bifida aperta of genetic origin is caused by failure of neural fold elevation. The developmental mechanisms in genetic NTDs are considered in terms of distinct rostro-caudal zones along the neural folds that likely differ in mechanism of elevation. Failure of elevation leads to: split face (zone A), exencephaly (zone B), rachischisis (all of zone D), or spina bifida (caudal zone D). The developmental mechanisms leading to these genetic NTDs are heterogeneous, even within one zone. At the tissue level, the mutants show that the mechanism of failure of elevation can involve, e.g., (1) slow growth of adjacent tethered tissue (curly tail), (2) defective forebrain mesenchyme (Cart1 or twist), (3) defective basal lamina in surface ectoderm (Lama5), (4) excessive breadth of floorplate and notochord (Lp), (5) abnormal neuroepithelium (Apob, Sp, Tcfap2a), (6) morphological deformation of neural folds (jmj), (7) abnormal neuroepithelial and neural crest cell gap-junction communication (Gja1), or (8) incomplete compensation for a defective step in the elevation sequence (SELH/Bc). At the biochemical level, mutants suggest involvement of: (1) faulty regulation of apoptosis (Trp53 or p300), (2) premature differentiation (Hes1), (3) disruption of actin function (Macs or Mlp), (4) abnormal telomerase complex (Terc), or (5) faulty pyrimidine synthesis (Sp). The NTD preventative effect of maternal dietary supplementation is also heterogeneous, as demonstrated by: (1) methionine (Axd), (2) folic acid or thymidine (Sp), or (3) inositol (curly tail). The heterogeneity of mechanism of mouse NTDs suggests that human NTDs, including the common nonsyndromic anencephaly or spina bifida, may also reflect a variety of genetically caused defects in developmental mechanisms normally responsible for elevation of the neural folds.
PMID: 10525207
We review the data from studies of mouse mutants that lend insight to the mechanisms that lead to neural tube defects (NTDs). Most of the 50 single-gene mutations that cause neural tube defects (NTDs) in mice also cause severe embryonic-lethal syndromes, in which exencephaly is a nonspecific feature. In a few mutants (e.g., Trp53, Macs, Mlp or Sp), other defects may be present, but affected fetuses can survive to birth. Multifactorial genetic causes, as are present in the curly tail stock (15-20% spina bifida), or the SELH/Bc strain (15-20% exencephaly), lead to nonsyndromic NTDs. The mutations indicate that "spina bifida occulta," a dorsal gap in the vertebral arches over an intact neural tube, is usually genetically and developmentally unrelated to exencephaly or "spina bifida" (aperta). Almost all exencephaly or spina bifida aperta of genetic origin is caused by failure of neural fold elevation. The developmental mechanisms in genetic NTDs are considered in terms of distinct rostro-caudal zones along the neural folds that likely differ in mechanism of elevation. Failure of elevation leads to: split face (zone A), exencephaly (zone B), rachischisis (all of zone D), or spina bifida (caudal zone D). The developmental mechanisms leading to these genetic NTDs are heterogeneous, even within one zone. At the tissue level, the mutants show that the mechanism of failure of elevation can involve, e.g., (1) slow growth of adjacent tethered tissue (curly tail), (2) defective forebrain mesenchyme (Cart1 or twist), (3) defective basal lamina in surface ectoderm (Lama5), (4) excessive breadth of floorplate and notochord (Lp), (5) abnormal neuroepithelium (Apob, Sp, Tcfap2a), (6) morphological deformation of neural folds (jmj), (7) abnormal neuroepithelial and neural crest cell gap-junction communication (Gja1), or (8) incomplete compensation for a defective step in the elevation sequence (SELH/Bc). At the biochemical level, mutants suggest involvement of: (1) faulty regulation of apoptosis (Trp53 or p300), (2) premature differentiation (Hes1), (3) disruption of actin function (Macs or Mlp), (4) abnormal telomerase complex (Terc), or (5) faulty pyrimidine synthesis (Sp). The NTD preventative effect of maternal dietary supplementation is also heterogeneous, as demonstrated by: (1) methionine (Axd), (2) folic acid or thymidine (Sp), or (3) inositol (curly tail). The heterogeneity of mechanism of mouse NTDs suggests that human NTDs, including the common nonsyndromic anencephaly or spina bifida, may also reflect a variety of genetically caused defects in developmental mechanisms normally responsible for elevation of the neural folds.
PMID: 10525207
Saturday, November 24, 2007
Tethered cord syndrome in children: a review
Bui CJ, Tubbs RS, Oakes WJ. Tethered cord syndrome in children: a review. Neurosurgical Focus. 2007;23(2):1-9.
The treatment of a patient with symptoms of a tethered spinal cord and in whom a fatty infiltrated terminal filum is found is controversial. The authors review their experience and the literature regarding this aspect of occult spinal dysraphism. From experience, transection of a fatty terminal filum in patients with symptoms related to excessive caudal cord tension is a minor procedure that generally yields good results. The most problematic issue in the literature is what patients and symptoms are best suited to surgical treatment.
PMID: 17961017
The treatment of a patient with symptoms of a tethered spinal cord and in whom a fatty infiltrated terminal filum is found is controversial. The authors review their experience and the literature regarding this aspect of occult spinal dysraphism. From experience, transection of a fatty terminal filum in patients with symptoms related to excessive caudal cord tension is a minor procedure that generally yields good results. The most problematic issue in the literature is what patients and symptoms are best suited to surgical treatment.
PMID: 17961017
Management of Infection After Instrumented Posterior Spine Fusion in Pediatric Scoliosis
Ho C, Skaggs DL, Weiss JM, Tolo VT. Management of Infection After Instrumented Posterior Spine Fusion in Pediatric Scoliosis. Spine. 2007 Nov 15;32(24):2739-2744.
STUDY DESIGN.: Case series retrospective review.
OBJECTIVE.: To identify what factors predict successful eradication of infection after I&D of an infected posterior spinal fusion with instrumentation.
SUMMARY OF BACKGROUND DATA.: The treatment of infection of instrumented spine fusions in children has few clear guidelines in the literature. METHODS.: The medical records of patients who required a surgical irrigation and debridement (I&D) for infection after posterior spinal fusion and instrumentation for scoliosis from 1995 to 2002 were retrospectively reviewed.
RESULTS.: Fifty-three patients were identified with the following underlying diagnoses: 21 patients (40%) idiopathic scoliosis, 10 patients (23%) cerebral palsy, 3 patients (6%) spina bifida, 1 patient (2%) congenital scoliosis, and 17 patients (32%) other. There were 31 patients (58%) with surgery <6 months from initial fusion, and 22 (42%) patients >6 months. Of the 43 patients with implant retained at the time of the first I&D, 20 patients required a second I&D (47%). Of the 10 patients with complete implant removal, 2 patients required a second I&D (20%). Coagulase-negative Staphylococcus was the most prevalent organism, growing in 25 (47%) of the cultures. Of patients with idiopathic scoliosis, 8 of 21 (38%) required a second I&D; of the patients with other diagnoses, 14 of 32 (44%) required a second I&D, which was not a significant difference (P > 0.05).
CONCLUSION.: To the best of our knowledge, this is the largest reported series of spinal implant infections. When children with an infection after posterior spinal fusion with instrumentation undergo irrigation and debridement, there is a nearly 50% chance that the infection will remain if all spinal implants are not removed. As nearly 50% of the infections were caused by coagulase-negative Staphylococcus, we recommend that prophylactic antibiotic coverage for this organism is used at the time of the initial spinal fusion.
PMID: 18007254
STUDY DESIGN.: Case series retrospective review.
OBJECTIVE.: To identify what factors predict successful eradication of infection after I&D of an infected posterior spinal fusion with instrumentation.
SUMMARY OF BACKGROUND DATA.: The treatment of infection of instrumented spine fusions in children has few clear guidelines in the literature. METHODS.: The medical records of patients who required a surgical irrigation and debridement (I&D) for infection after posterior spinal fusion and instrumentation for scoliosis from 1995 to 2002 were retrospectively reviewed.
RESULTS.: Fifty-three patients were identified with the following underlying diagnoses: 21 patients (40%) idiopathic scoliosis, 10 patients (23%) cerebral palsy, 3 patients (6%) spina bifida, 1 patient (2%) congenital scoliosis, and 17 patients (32%) other. There were 31 patients (58%) with surgery <6 months from initial fusion, and 22 (42%) patients >6 months. Of the 43 patients with implant retained at the time of the first I&D, 20 patients required a second I&D (47%). Of the 10 patients with complete implant removal, 2 patients required a second I&D (20%). Coagulase-negative Staphylococcus was the most prevalent organism, growing in 25 (47%) of the cultures. Of patients with idiopathic scoliosis, 8 of 21 (38%) required a second I&D; of the patients with other diagnoses, 14 of 32 (44%) required a second I&D, which was not a significant difference (P > 0.05).
CONCLUSION.: To the best of our knowledge, this is the largest reported series of spinal implant infections. When children with an infection after posterior spinal fusion with instrumentation undergo irrigation and debridement, there is a nearly 50% chance that the infection will remain if all spinal implants are not removed. As nearly 50% of the infections were caused by coagulase-negative Staphylococcus, we recommend that prophylactic antibiotic coverage for this organism is used at the time of the initial spinal fusion.
PMID: 18007254
Wednesday, November 7, 2007
Allergic reactions to latex in myelodysplasia: a review of the literature
Gunther KP, Nelitz M, Parsch K, Puhl W. Allergic reactions to latex in myelodysplasia: a review of the literature. Journal of Pediatric Orthopedics B. 2000 Jun;9(3):180-4. Review.
Current research has identified clinically relevant allergens in natural latex. Children with myelodysplasia are especially considered to be at risk for the development of immunoglobulin E-mediated hypersensitivity, which can lead to life-threatening intraoperative anaphylaxis. A careful medical history is mandatory to identify patients who might be predisposed to anaphylactic reactions. Preventive measures involve primarily the avoidance of latex contact at home and in hospitals for all patients with myelodysplasia. The effectiveness of additional pharmacologic prophylaxis has to be determined further.
PMID: 10904904
Current research has identified clinically relevant allergens in natural latex. Children with myelodysplasia are especially considered to be at risk for the development of immunoglobulin E-mediated hypersensitivity, which can lead to life-threatening intraoperative anaphylaxis. A careful medical history is mandatory to identify patients who might be predisposed to anaphylactic reactions. Preventive measures involve primarily the avoidance of latex contact at home and in hospitals for all patients with myelodysplasia. The effectiveness of additional pharmacologic prophylaxis has to be determined further.
PMID: 10904904
Monday, October 29, 2007
Spina bifida outcome: a 25-year prospective
Bowman RM, McLone DG, Grant JA, Tomita T, Ito JA. Spina bifida outcome: a 25-year prospective. Pediatric Neurosurgery. 2001 Mar;34(3):114-20.
BACKGROUND: Open spina bifida is the most complex congenital abnormality compatible with long-term survival. This report outlines the 20- to 25-year outcome for our original cohort of patients with a myelomeningocele treated in a nonselective, prospective manner.
METHODS: Of the initial 118 children, 71 patients were available for our most recent review. Nineteen patients have been lost to follow-up and 28 patients have died. Data were collected on: motor level, shunt status, education/employment, seizure history, mobility, bladder/bowel continence, tethered cord, scoliosis, latex allergy, posterior cervical decompression, tracheostomy and/or gastrostomy tube.
RESULTS: Mortality (24%) continues to climb into young adulthood. Eighty-six percent of the cohort have cerebrospinal fluid diversion, with 95% having undergone at least one shunt revision. Thirty-two percent have undergone a tethered cord release, with 97% having an improvement or stabilization in their preoperative symptoms. Forty-nine percent have scoliosis, with 43% eventually requiring a spinal fusion. Sixteen patients (23%) have had at least one seizure. Eighty-five percent are attending or have graduated from high school and/or college. More than 80% of young adults have social bladder continence. Approximately 1/3 of patients are allergic to latex, with 6 patients having experienced a life-threatening reaction.
CONCLUSION: At least 75% of children born with a myelomeningocele can be expected to reach their early adult years. Late deterioration is common. One of the greatest challenges in medicine today is establishing a network of care for these adults with spina bifida. Copyright 2001 S. Karger AG, Basel
PMID: 11359098
BACKGROUND: Open spina bifida is the most complex congenital abnormality compatible with long-term survival. This report outlines the 20- to 25-year outcome for our original cohort of patients with a myelomeningocele treated in a nonselective, prospective manner.
METHODS: Of the initial 118 children, 71 patients were available for our most recent review. Nineteen patients have been lost to follow-up and 28 patients have died. Data were collected on: motor level, shunt status, education/employment, seizure history, mobility, bladder/bowel continence, tethered cord, scoliosis, latex allergy, posterior cervical decompression, tracheostomy and/or gastrostomy tube.
RESULTS: Mortality (24%) continues to climb into young adulthood. Eighty-six percent of the cohort have cerebrospinal fluid diversion, with 95% having undergone at least one shunt revision. Thirty-two percent have undergone a tethered cord release, with 97% having an improvement or stabilization in their preoperative symptoms. Forty-nine percent have scoliosis, with 43% eventually requiring a spinal fusion. Sixteen patients (23%) have had at least one seizure. Eighty-five percent are attending or have graduated from high school and/or college. More than 80% of young adults have social bladder continence. Approximately 1/3 of patients are allergic to latex, with 6 patients having experienced a life-threatening reaction.
CONCLUSION: At least 75% of children born with a myelomeningocele can be expected to reach their early adult years. Late deterioration is common. One of the greatest challenges in medicine today is establishing a network of care for these adults with spina bifida. Copyright 2001 S. Karger AG, Basel
PMID: 11359098
Sunday, October 21, 2007
Myelomeningocele: a review of the epidemiology, genetics, risk factors for conception, prenatal diagnosis, and prognosis for affected individuals
Shaer CM, Chescheir N, Schulkin J. Myelomeningocele: a review of the epidemiology, genetics, risk factors for conception, prenatal diagnosis, and prognosis for affected individuals. Obstetrical & Gynecological Survey. 2007 Jul;62(7):471-9. Review.
Although the use of folic acid before conception decreases the chance that a fetus will have an open neural tube defect, this condition still affects 0.5-1.0/1000 pregnancies in the United States. Results of a recent survey suggest that there are gaps in obstetrician-gynecologists' knowledge of risk factors for conception, strategies for prenatal diagnosis, and prognosis for affected individuals. To address these gaps this paper reviews the epidemiology, genetics, risk factors for conception, prenatal diagnosis, and prognosis for affected individuals, presents current information, and makes suggestions for expanding obstetrician-gynecologists' knowledge of myelomeningocele.
TARGET AUDIENCE: Obstetricians & Gynecologists, Family Physicians.
LEARNING OBJECTIVES: After completion of this article, the reader should be able to state that despite a large amount of professional and public education on the use of folic acid in prevention of open neural tube defects (ONTDs) the incidence still affects 0.5-1.0/1000 pregnancies and recall that a recent survey conducted by the ACOG shows substantial misunderstanding and misinformation on major categories of neural tube birth defects.
PMID: 17572919
Although the use of folic acid before conception decreases the chance that a fetus will have an open neural tube defect, this condition still affects 0.5-1.0/1000 pregnancies in the United States. Results of a recent survey suggest that there are gaps in obstetrician-gynecologists' knowledge of risk factors for conception, strategies for prenatal diagnosis, and prognosis for affected individuals. To address these gaps this paper reviews the epidemiology, genetics, risk factors for conception, prenatal diagnosis, and prognosis for affected individuals, presents current information, and makes suggestions for expanding obstetrician-gynecologists' knowledge of myelomeningocele.
TARGET AUDIENCE: Obstetricians & Gynecologists, Family Physicians.
LEARNING OBJECTIVES: After completion of this article, the reader should be able to state that despite a large amount of professional and public education on the use of folic acid in prevention of open neural tube defects (ONTDs) the incidence still affects 0.5-1.0/1000 pregnancies and recall that a recent survey conducted by the ACOG shows substantial misunderstanding and misinformation on major categories of neural tube birth defects.
PMID: 17572919
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