Spina bifida

Spina bifida results from failure of fusion of the caudal neural tube, and is one of the most common malformations of human structure. The causes of this disorder are heterogeneous and include chromosome abnormalities, single gene disorders, and teratogenic exposures. However, the cause is not known in most cases. Up to 70% of spina bifida cases can be prevented by maternal, periconceptional folic acid supplementation. The mechanism underlying this protective effect is unknown, but it is likely to include genes that regulate folate transport and metabolism. Individuals with spina bifida need both surgical and medical management. Although surgical closure of the malformation is generally done in the neonatal period, a randomised clinical trial to assess in utero closure of spina bifida has been initiated in the USA. Medical management is a lifelong necessity for individuals with spina bifida, and should be provided by a multidisciplinary team.     

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.     

Urologic care of adults with spina bifida

An increasing number of adults with spina bifida will require urologic care in the future. Transition of their urologic care to adult urologists will not be an easy task. Few centers have multidisciplinary clinics for adult patients, who will need surveillance to detect changes in bladder function and prevent renal deterioration. They will also require monitoring for late complications of neurogenic bladder dysfunction, particularly those who have undergone prior bladder reconstruction.     

Anorectal motility after surgery for spina bifida

Anorectal motility was studied in 93 children (aged 15 days to 161/2 years) who had undergone surgery for myelocele or meningomyelocele, and 80 controls, matched for age and sex. Mean resting pressure in the anal canal of patients was markedly decreased, particularly in the presence of incontinence, and unstable. The recording of a rectoanal inhibitory reflex both in the upper anal canal and at the anal margin was associated with the presence of fecal incontinence and motor disorders of the lower extremities. Patients could be divided into four groups according to manometric pattern: 1) those with normal recordings (incontinence in 63 per cent), 2) those with spontaneous intermittent relaxations of the upper anal canal and simultaneous rectal contractions (incontinence in 91 per cent), 3) those with normal manometry except for unstable upper anal canal pressure (incontinence in 92 per cent), and 4) those with absence of the rectoanal inhibitory reflex and hypotonic anal canal (patients too young to appraise continence, all under 2 years).     

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.     

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.     

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.     

Quality of life for families with spina bifida in Kenya

Spina bifida (SB) affects children worldwide. Studies from developed nations have explored the impact of SB on the quality of life of children and their parents. However, there are no such studies available from developing countries. We have therefore undertaken to document the impact of the disability on the families of affected children in Kenya. A questionnaire was administered to 40 mothers and their children, who were receiving treatment for SB at our institution. The results of this study should indicate where community and governmental resources and educational efforts for the disabled should be directed.     

Bronchiektasien bei drei Geschwistern und bei deren Onkel

This report contains information about 4 cases of bronchiectasis found in two generations of the same family without direct transmission of the condition between parents and children. In one case the histological examination showed — aside from bronchiectasis — a cyst, which was thought to be of congenital origin.