ALPHA-FETOPROTEIN IN THE ANTENATAL DIAGNOSIS OF ANENCEPHALY AND SPINA BIFIDA

α-fetoprotein (A.F.P.) has been measured in the amniotic fluids of thirty-one pregnancies leading to anencephaly (or anencephaly and spina bifida), three leading to spina bifida, and three leading to hydrocephaly (or hydrocephaly and spina bifida). In the anencephalic cases all A.F.P. concentrations were well above the normal range between 25 and 35 weeks of gestation; after 35 weeks five out of nine cases were clearly above normal. In a single case of spina bifida, where amniotic fluid was obtained at 13 weeks, A.F.P. concentration was four times greater than the highest normal level. After 30 weeks' gestation amniotic fluids from pregnancies leading to spina bifida and hydrocephaly could not be distinguished from normal pregnancies. These results suggest that amniotic-fluid-A.F.P. measurements will be valuable in the early antenatal diagnosis of anencephaly and spina bifida and will enable termination of these pregnancies.     

Quality of life of children with spina bifida in Kenya is not related to the degree of the spinal defects

Objectives To assess the relationship between the degree of symptoms and defects caused by spina bifida and the quality of life (QoL) of children with spina bifida in Kenya. Methods Children with spina bifida at BethanyKids at Kijabe Hospital, at mobile clinics throughout Kenya and a control group of healthy children were interviewed regarding their QoL. The SEIQoL‐DW was used as an instrument to measure the QoL. This instrument can transfer well across cultures by using open questions clustered in six domains chosen based on the study group responses. Symptoms and impairment caused by spina bifida were obtained from the medical files. Results Sixty‐nine per cent of 102 patients with spina bifida had a myelomeningocele, 59% had hydrocephalus, and of 49 incontinent children older than 2.5 years, 67% used clean intermittent catheterization. Quality of life of children was 65.1 on a scale from 0 to 100, compared to 78.0 in the healthy control group. Not one single determinant made a significant difference in the overall QoL. The most important domains were ‘development’ and ‘self‐actualization’. The lowest scores were found in the domain ‘health and disease’. Conclusion This study showed no significant influence of the degree of defects of spina bifida on the QoL, but identified domains that can be targeted for improvement in children with spina bifida.     

Sexual Function in Young Adults with Spina Bifida

Advances in medicine have allowed children born with spina bifida to survive into adulthood. However, few studies have examined the unique issues that individuals with spina bifida face. Even fewer have looked at adolescence, specifically with regard to sexual function, in individuals with spina bifida. Most of the data in the literature are retrospective case studies and survey studies. The purpose of this article is to review previously published reports on sexual function and the issues faced by adolescents with spina bifida with regard to sex, reproduction, and incontinence.     

Frontoethmoidal meningoencephalocoele repair in Cambodia: outcomes and cost comparisons

In Cambodia, spina bifida is rare, but frontoethmoidal meningoencephalocoeles (MECs) are common. Mean life expectancy for patients with congenital MECs may be <20 years, but the complex treatment required has not been available in the country until recently. During visits by combined neurosurgical/craniofacial teams from both Germany and France, a method of repair has been developed that is suitable for the local conditions, affordable and has allowed Cambodian surgeons to learn how to successfully treat MECs. The surgical technique and initial results with 30 patients have been described in a previous publication. This paper presents the outcomes of 128 cases and illustrates that it is cost-effective for these patients to be treated in Cambodia.     

Split notochord syndrome in an adult presenting with colonic duplication

A case of tubular colonic duplication, sigmoid colon diverticulum, and lumbar anterior spina bifida in a 28-year-old man was diagnosed as split notochord syndrome. After subtotal colectomy, including the duplicated colon, the patient recovered. Histologic study of the duplicated colon revealed multifocal, ectopic gastric fundic mucosa in a mosaic pattern. Since bleeding and perforation occur most frequently in conjunction with ectopic gastric mucosa within the duplication, we believe that complete resection of the duplicated bowel is the best procedure. Split notochord syndrome is a rare congenital anomaly. It is usually discovered in the first year of life, and the majority of reported cases have involved the cervical or thoracic region. Our patient is exceptional in having reached the age of 28 years without complaints and in that his case involved lumbar anterior spina bifida and tubular colonic duplication.     

先天性脊柱裂脊膜膨出术前脊神经根的MRI定位研究

目的探讨MRI技术在先天性脊柱裂脊膜膨出（SB）患者人工反射弧术前脊神经根初步解剖定位中的应用价值。方法应用MRI技术对10例正常人、30例SB患者人工反射弧术前行TSE、3D FT-CISS等序列扫描及多平面重建（MPR）成像,对脊神经根初步解剖定位,并与术中发现进行比较。结果30例SB患者中,13例（43．3％）术前MRI发现有腰骶神经根出椎间孔畸形,8例经手术证实;术中发现12例（40％）存在腰骶神经根出椎间孔畸形,其中2例同时存在两个畸形。结论MRI技术可较清晰显示SB患者腰骶神经根出椎间孔的情况,为术前评估患者提供较可靠的腰骶部神经局部解剖信息。     

Lymphedema in spina bifida: A case series

Lymphedema is a chronic edematous state that can arise from any cause of low output failure of the lymphatic circulation. We herein present a series of three adult patients with spina bifida in whom the clinical diagnosis of lymphedema was also established. The diagnosis of spina bifida, with its attendant lower extremity inactivity, might intuitively suggest the presence of functional, dependent edema. However, imaging studies in one patient confirm a pattern of lymphatic malfunction that is virtually indistinguishable from the one that might accompany other, heritable forms of primary lymphedema. The important potential for lymphedema in spina bifida therefore warrants diagnostic scrutiny and therapeutic intervention in patients who develop edematous lower extremities, particularly in situations where the need for effective wound healing is heightened.     

Closure of ventricular septal defects: a study of factors influencing spontaneous and surgical closure

INTRODUCTION: Aspects of the management of ventricular septal defects which remain uncertain include the role of screening, and the need for closure of defects that remain patent. AIM: To ascertain the natural history of clinically significant ventricular septal defects, and to examine uncertainties in strategies of management. METHODS: We studied prospectively a regional cohort of children born with isolated ventricular septal defects, noting age at presentation; sex; morphology and size of the defect; age at closure, if it occurred, and the means of closure. RESULTS: We identified 290 children with isolated ventricular septal defects, of whom 147 (51%) were male. The mean follow up period was 65 months, with five cases being lost to follow up. Surgical closure was required in 41 (14%) cases, and 155 (54%) defects closed spontaneously. Spontaneous closure occurred in 123 (68%) out of 180 cases with completely muscular borders, and in 31 (29%) of the 107 patients with perimembranous defects. There were two cases with associated aortic regurgitation and no cases of endocarditis. Size and morphology of the defect were significant predictors of spontaneous and surgical closure. In addition, young age at diagnosis was a significant predictor of spontaneous closure. CONCLUSIONS: The size and morphology of a ventricular septal defect are important determinants of spontaneous closure and to the need for surgical intervention. Early age at presentation, in contrast, is not predictive of the need for surgical intervention. In early childhood, there appears to be very little risk of endocarditis or aortic valvar prolapse. Neither screening of populations to identify ventricular septal defects, nor surgical closure of asymptomatic defects in childhood, are supported by our findings.     

Latex allergy

Latex allergy has become an increasing cause of morbility in the last few years and is now recognized as an international health problem. The prevalence of latex sensitization among the general population is less than 1 %. The groups at highest risk include healthcare workers, rubber industry workers, patients with a history of multiple surgical procedures, particularly children with spina bifida and urogenital abnormalities, atopic individuals, and patients with certain fruit allergies (especially kiwi, avocado, chestnut and banana). The molecular and immunological characteristics of several natural latex allergens have been identified. Symptoms range from contact urticaria to anaphylaxis. Diagnosis is based on clinical history and is confirmed by skin prick tests. Measurement of serum specific IgE to latex can also be useful. The best treatment is latex avoidance and substitution by other materials. However, because latex products are ubiquitous in medical and nonmedical devices of daily use, a latex-free environment is not easy to achieve. In some patients, immunotherapy could be an alternative.     

Intraoperative anaphylactic shock in a child with no history of type I hypersensitivity

Natural rubber latex is the second most implicated agent in intraoperative anaphylactic reactions. This report describes a case of intraoperative anaphylaxis occurring in a non-atopic fourteen-year-old girl undergoing multiple surgical procedures, but without spina bifida, in which latex surgical gloves were the main culprit for the anaphylactic reactions. Clinical manifestations of an anaphylactic reaction were also experienced during the examination of the possible cause of intraoperative anaphylaxis by skin prick testing with a latex allergen extract. Skin tests with anesthetics were negative. Specific IgE to latex was positive at 92.9 kUA/L (class 5). The molecular basis for the reported intraoperative anaphylaxis was ascribed to three low-molecular mass latex allergens (10-15 kD) detected in the brand of latex surgical gloves used during the operation. Given the potential of a dramatic outcome, latex allergy testing as a regular preoperative measure may contribute to the reduction of anaphylactic reactions during surgical interventions.     

Peritoneal dialysis in a patient with neurogenic bladder and chronic kidney disease with ventriculoperitoneal shunt

Long-term dialysis in children with multiple handicaps has become easier with the advent of continuous ambulatory peritoneal dialysis (PD). Due to the widespread use of PD and the long survival of patients with spina bifida, an increasing number of patients with spina bifida are on PD. The viability and safety of PD in spina bifida patients with a ventriculoperitoneal shunt (VPS) have been a matter of concern. Some authors consider the presence of a VPS a relative contraindication for PD, but more recent reports suggest that PD under close monitoring is not contraindicated. We report a 17-year-old girl born with meningomyelocele, hydrocephalus and neurogenic bladder who was maintained on VPS. She reached end-stage renal failure 17 years later and was put on PD based on family and patient preference. She had an uneventful course in the initial 9 months, but later developed fungal peritonitis which was successfully managed with catheter withdrawal and an intravenous antifungal agent (amphotercin 0.75 mg/kg). Simultaneous ventricle-aspirated cerebrospinal fluid was sterile. To our knowledge, this is the first report of fungal infection in such a patient. Although we share the view that PD is not an absolute contraindication in patients with a functioning VPS, its likely complications, especially infectious complications in developing countries, should be kept in mind before initiating PD in such patients.     

Loss of mitogen-activated protein kinase kinase kinase 4 (MEKK4) results in enhanced apoptosis and defective neural tube development

Neural tube defects (NTDs) are prevalent human birth defects. Mitogen-activated protein kinases (MAPKs), such as c-Jun N-terminal kinase (JNK), are implicated in facilitating neural tube closure, yet upstream regulators remain to be identified. Here, we show that MAP kinase kinase kinase 4 (MEKK4) is strongly expressed in the developing neuroepithelium. Mice deficient in MEKK4 develop highly penetrant NTDs that cannot be rescued by supplementation with folic acid or inositol. Unlike most mouse models of NTDs, MEKK4 mutant embryos display genetically co-segregated exencephaly and spina bifida, recapitulating the phenotypes observed in human patients. To identify downstream targets of MEKK4 during neural tube development, we examined the activity of MAP kinase kinase 4 (MKK4), a signaling intermediate between MAP kinase kinase kinase and JNK/p38. We found a significant reduction in MKK4 activity in MEKK4-deficient neuroepithelium at sites of neural tube closure. MAPK pathways are key regulators of cell apoptosis and proliferation. Analyses of the neuroepithelium in MEKK4-deficient embryos showed massively elevated apoptosis before and during neural tube closure, suggesting an antiapoptotic role for MEKK4 during development. In contrast, proliferation of MEKK4-deficient neuroepithelial cells appeared to be largely unaffected. MEKK4 therefore plays a critical role in regulating MKK4 activity and apoptotic cell death during neural tube development. Disruption of this signaling pathway may be clinically relevant to folate-resistant human NTDs.     

Sakralnervenstimulation bei Spina bifida

Data for patients with urinary and fecal incontinence due to spina bifida treated by sacral neuromodulation are sparse. This case report shows that sacral neuromodulation performed with the patient under local anesthesia can be a promising treatment option for this complex indication.     

Zic2 regulates the kinetics of neurulation

Mutation in human ZIC2, a zinc finger protein homologous to Drosophila odd-paired, causes holoprosencephaly (HPE), which is a common, severe malformation of the brain in humans. However, the pathogenesis is largely unknown. Here we show that reduced expression (knockdown) of mouse Zic2 causes neurulation delay, resulting in HPE and spina bifida. Differentiation of the most dorsal neural plate, which gives rise to both roof plate and neural crest cells, also was delayed as indicated by the expression lag of a roof plate marker, Wnt3a. In addition the development of neural crest derivatives such as dorsal root ganglion was impaired. These results suggest that the Zic2 expression level is crucial for the timing of neurulation. Because the Zic2 knockdown mouse is the first mutant with HPE and spina bifida to survive to the perinatal period, the mouse will promote analyses of not only the neurulation but also the pathogenesis of human HPE.     

Transition of Care and Treatment of the Adult Spina Bifida Patient

Adult spina bifida patients are an underserved population in terms of healthcare in general and urologic care in particular. These patients have unique urologic issues arising from the underlying disease process as well as prior treatments. Multidisciplinary clinics deliver coordinated care in a limited number of locations and many patients receive care in their local community. In an effort to improve patient care, this article will empower the general adult urologist to care for the urologic needs of adult spina bifida patients and educate the reader about the fundamentals of transitional urologic care.     

Current treatment of rectovaginal fistula in Crohn's disease

Rectovaginal fistula (RVF) continues to be the most difficult perianal manifestation of Crohn's disease to treat. This devastating and disabling complication has a significant impact on patients' quality of life and presents unique management challenges. Current therapeutic approaches include many medical therapeutics and surgical treatments with a wide range of success rates reported. However, current evidence is lacking to support any recommendation. The choice of repair depends on various patient and disease factors and basic surgical tenets. In this article, we review the current options to consider in the treatment of Crohn's-related RVF, and try to evaluate their effects on fistulae closure and quality of life.     

Iatrogenic coronary-to-right ventricle fistula: benign outcome irrespective of patency?

Coronary perforation is an uncommon, but potentially lethal complication of percutaneous coronary interventions. Most perforations have proved to lead to intramyocardial or intrapericardial extravasation. However, perforation may also lead to direct coronary-to-right ventricle fistula, more commonly occurring in complex lesions and/or the use of atheroablative devices. To prevent this complication careful manipulation of the guidewire across the obstruction is mandatory, together with avoidance of oversized balloons and high-pressure inflations. The factors that determine the hemodynamic significance of the fistulas include size of the communication, resistance of the recipient chamber, and potential for development of myocardial ischemia. Accordingly a broad range of signs and symptoms may be referred. Despite iatrogenic fistulas are usually benign and asymptomatic, spontaneous closures are very rare. In most cases fistulas need to be treated by percutaneous or surgical closure, being the conservative management a debated option. In isolated cases serious complications have been described resulting from volume overload and distal myocardial flow impairment. We hereby describe two cases of coronary-to-right ventricle fistula occurred during percutaneous coronary intervention, highlighting full angiographic iconography and the issues involved in the management and follow-up of this iatrogenic complication.     

Gallstone ileus: Case report and literature review

Gallstone ileus(GI)is characterized by occlusion of the intestinal lumen as a result of one or more gallstones.GI is a rare complication of gallstones that occurs in1%-4%of all cases of bowel obstruction.The mortality associated with GI ranges between 12%and 27%.Classical findings on plain abdominal radiography include:(1)pneumobilia;(2)intestinal obstruction;(3)an aberrantly located gallstone;and(4)change of location of a previously observed stone.The optimal management of acute GI is controversial and can be:(1)enterotomy with stone extraction alone;(2)enterotomy,stone extraction,cholecystectomy and fistula closure;(3)bowel resection alone;and(4)bowel resection with fistula closure.We describe a case to highlight some of the pertinent issues involved in GI management,and propose a scheme to minimize recurrent disease and postoperative complications.We conclude that GI is a rare condition affecting mainly the older population with a female predominance.The advent of computed tomography and magnetic resonance imaging has made it easier to diagnose GI.Enterotomy with stone extraction alone remains the most common surgical method because of its low incidence of complications.     

Xiao Procedure for Neurogenic Bladder in Spinal Cord Injury and Spina Bifida

The Xiao procedure, which reroutes nerves surgically to establish a somatic–autonomic reflex arc for restoring voluntary bladder and bowel control in patients with spinal cord injury or spina bifida, is reviewed in this article on its history, current status, and how to optimize its efficiency.     

Percutaneous colonoscopic cecostomy for management of chronic constipation in children

BACKGROUND: Chronic constipation and encopresis are common problems in children with spina bifida and anorectal anomalies. Commonly used therapies include complicated bowel regimens and antegrade continence enemas delivered via surgically placed appendicostomies and radiologically placed cecostomies. METHODS: A technique is described for percutaneous placement of cecostomies for the delivery of continence enemas or venting. RESULTS: Percutaneous cecostomies were placed in 12 patients. Improvement in bowel management occurred in all patients. CONCLUSIONS: Percutaneous endoscopic cecostomy is a safe and effective method for the treatment of intractable constipation.