Comparison of earlobe and promontorium recording sites in electrocochleography

A compound cochlear action potential can be recorded in man from the promontorium, after perforation of the tympanic membrane. This same cochlear action potential (along with the responses of the brain stem auditory nuclei) can also be recorded by means of earlobe-vertex electrodes. Recordings were made in patients with chronic perforations of the tympanic membrane from the promontorium and simultaneously from the earlobe (-vertex) in order to see if there is a difference in response threshold. As click intensity was decreased, the responses disappeared in both recordings at about the same stimulus intensity (threshold). At near-threshold click intensities, the response seen in the promontorium recording was the compound cochlear action potential while in the earlobe vertex recording, the response often seen was seen was that from the inferior colliculus. Thus, in most cases, there is no real advantage to be gained by perforating the tympanic membrane in order to record from the promontorium since an identical response threshold can be obtained using surface electrodes.     

Individual, family, and peer factors associated with the quality of sibling relationships in families of youths with spina bifida.

Based on a social-ecological theoretical framework, this study sought to identify key individual (attitude toward spina bifida), family (satisfaction with family functioning), and peer (peer support) factors associated with the quality of sibling relationships in families of youths with spina bifida. A cross-sectional sample of 224 siblings of youths with spina bifida, ages 11-18 years, and parents participated. Siblings completed self-report measures of attitude toward spina bifida, satisfaction with family functioning, peer support, and warmth and conflict in their relationships with brothers and sisters with spina bifida. The parent provided information on spina bifida severity and family demographics. Hierarchical regression analyses supported the overall model in explaining variance in sibling-reported relational warmth (Adjusted R2 = .29) and conflict (Adjusted R2 = .17). Satisfaction with family functioning was the only ecological factor consistently associated with warmth and conflict in the sibling relationship. Findings have clinical implications for pathways to support positive sibling interactions in families of youths with spina bifida. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Trajectories of family processes across the adolescent transition in youth with spina bifida.

The current study investigated change in family processes, including conflict, cohesion, and stress, across the adolescent transition, comparing the developmental trajectories of youth with and without spina bifida. Individual growth curve modeling procedures were utilized to describe the developmental course of family processes across 4 waves of data collection, from ages 9 to 15 years, and to test whether illness status (spina bifida vs. matched comparison group [N = 68 for both groups at Time 1]) would significantly predict individual variability in family processes. Potential moderators (child gender, socioeconomic status [SES], and child verbal ability) of the association between illness status and family functioning were also examined. Differences were found between the trajectories of family processes for families of youth with and without spina bifida. For families of youth with spina bifida, changes in family conflict and cohesion may be less dramatic than or inconsistent with what is expected during typical adolescence. Families of youth with spina bifida from low SES homes appear to demonstrate resilience in terms of family stress. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Trajectories of autonomy development across the adolescent transition in children with spina bifida.

Objective: The current study investigated individual growth in autonomy development across the adolescent transition, comparing the trajectories of children with and without spina bifida. Method: Individual growth curve modeling procedures were utilized to describe the developmental course of autonomy across four waves of data collection, from ages 9 to 15, and to test whether illness status [spina bifida vs. matched comparison group (N = 68 for both groups at Time 1)] would significantly predict individual variability in autonomy development. Potential moderators [child gender, SES, and Peabody Picture Vocabulary Test (PPVT) score] of the association between illness status and autonomy development were also examined. Results: Children with spina bifida demonstrated distinct developmental trajectories, though the nature of the group differences varied by type of autonomy development (emotional vs. behavioral), context (i.e. school vs. family), and reporter. Significant interactions with PPVT score and child gender were found. Conclusion: Overall, children with spina bifida show considerable developmental resiliency, but may lag behind their peers in specific areas of autonomy. Boys with spina bifida, and children with spina bifida who have lower than average levels of verbal intelligence, appear to be at greater risk for exhibiting delays in autonomy development. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Pregnancy and delivery in the patients with spina bifida--report of 5 cases

BACKGROUND: Because of improvement in the management for life-threatening complications of spina bifida, quality of life in the patient has become better and pregnancy is becoming more common problem in adolescent and adult female patients. In this paper, we reported patients with spina bifida who became pregnant and delivered a baby. METHODS: There were 6 deliveries from 5 patients. Mean patient age at the first pregnancy was 27.6 years (ranged from 26 to 32 years). Four patients had undergone surgical managements before pregnancy, of whom 1 had augmentation cystoplasty. Urological and obstetrical conditions during the pregnancy were analyzed. RESULTS: Upper urinary tract deterioration which was transient, was observed in 3 pregnancies. Serum BUN and creatinine levels remained stable throughout pregnancy in 4 patients. Pyelonephritis complicated 3 of 6 pregnancies. Delivery was vaginal in 4 and by cesarean section in 2. There were 7 obstetrical complications, which consisted of premature labor (2), uterine inertia (2), cephalo pelvic disproportion (2) and hydramnios (1). There were no significant anomalies in the newborns of these patients. CONCLUSION: To achieve successful pregnancy and delivery in the patient with spina bifida, careful urological and obstetrical observation for the potential complications is needed.     

Brain mechanisms for reading and language processing in spina bifida meningomyelocele: A combined magnetic source- and structural magnetic resonance imaging study.

Objective: The development of the ability to process spoken and written language depends upon a network of left hemisphere temporal, parietal, and frontal regions. The present study explored features of brain organization in children with spina bifida meningomyelocele (SBM) and shunted hydrocephalus, who commonly present with precocious development of word reading skills and preservation of vocabulary and grammar skills. Method: Eight children with SBM were compared with 15 IQ and reading-level matched, typically developing controls on MRI-based morphometric and Magnetic Source Imaging-derived neurophysiological profiles. Results: Children with SBM showed reduced magnetic activity in left inferior parietal regions during spoken word recognition and pseudoword reading tasks. We also noted reduced surface area/volume in inferior parietal and posterior temporal regions in SBM and increased gray matter volumes in left middle frontal regions and gyral complexity in left posterior temporal and inferior parietal regions. Conclusions: A complex pattern of changes in cortical morphology and activation may serve as evidence for structural and functional brain reorganization ensuring preservation of language and decoding abilities in children with SBM. (PsycINFO Database Record (c) 2011 APA, all rights reserved)     

Acute effects of nasal continuous positive airway pressure on 24-hour blood pressure and catecholamines in patients with obstructive sleep apnea

OBJECTIVE: To estimate the risk for spina bifida associated with the common mutation C677T of the MTHFR gene in a country with a relatively low prevalence of NTDs. DESIGN: Case-control study. SUBJECTS: Cases: 203 living patients affected with spina bifida (173 myelomeningocele and 30 lipomeningocele); controls: 583 subjects (306 young adults and 277 unselected newborns) from northern and central-southern Italy. SETTING: Cases: three spina bifida centres; young adult controls: DNA banks; newborn controls: regional neonatal screening centres. MAIN OUTCOME MEASURES: Prevalence of the C677T genotypes in cases and controls by place of birth; odds ratios for spina bifida and estimated attributable fraction. RESULTS: The prevalence of T/T, T/C, and C/C genotype was 16.6%, 53.7%, and 29.7% in controls and 25.6%, 43.8%, and 30.6% in cases, respectively. We found no differences between type of defect or place of birth. The odds ratio for spina bifida associated with the T/T genotype v C/C plus T/C was 1.73 (95% CI 1.15, 2.59) and the corresponding attributable fraction was 10.8%. No increased risk was found for heterozygous patients (OR=0.79, 95% CI 0.53-1.18). CONCLUSION: This study, as well as the meta-analysis we updated, shows that homozygosity for the MTHFR C677T mutation is a moderate risk factor in Europe, and even in Italy where there is a relatively low prevalence of spina bifida. The estimated attributable fraction associated with this risk factor explains only a small proportion of cases preventable by periconceptional folic acid supplementation. Thus, other genes involved in folate-homocysteine metabolism, their interaction, and the interaction between genetic and environmental factors should be investigated further.     

A surgical technique for resecting malignancies invading the facial nerve and petrous pyramid

Certain head and neck malignancies tend to invade branches of the cranial nerves and progress centripetally. The maxillary and mandibular divisions of the V (trigeminal) nerve are the most commonly invaded, but the VII (facial) nerve may harbor extensions of primary parotid malignancies and/or skin cancers originating in or near the ear. Paresis of the VII nerve signifies a serious but not entirely hopeless situation if countered with an appropriate surgical procedure. The optimal treatment of malignancies invading cranial nerves is surgical excision, which may necessitate removal of substantial portions of the cranium. Surgical pursuit of a malignancy in the facial nerve leads to a direct confrontation with the petrous pyramid of the temporal bone. Resection of the petrous pyramide is surgically feasible, but, if performed en bloc, extracts a high morbidity and mortality. An alternate technique in which the soft tissue and bones are removed disjunct is advocated. In this technique, the soft tissues are excised flush with the surface of the temporal bone. After making perforator and burr openings in the squamous temporal bone, a subtotal temporal craniectomy is completed with rongeurs. A prerequisite for success with this technique is the rotation of a large scalp flap and other local flaps to cover the exposed meninges and carotid arteries. A resume of four cases using this technique is presented. The age of the patients, the type, stage, and duration of the malignancies, and other factors which might influence the end stage results are given.     

Diastematomyelia and spina bifida can be caused by the intraspinal grafting of somites in early avian embryos

OBJECTIVE: In this experimental study, an embryological model was created to reproduce diastematomyelia and spina bifida and to investigate new aspects of the origin of spinal cord malformations. METHODS: A somite was implanted from a donor quail embryo into the neural tube of a 2-day-old chick embryo. The somite was chosen because the septum that characteristically separates the two hemicords consists exclusively of mesodermal derivatives. RESULTS: After 2 days of reincubation, diastematomyelia, spina bifida, or a normal embryo without a graft was observed. If the graft persisted in the neural tube, it formed a septum between the floor and roof plates but never made contact with the lateral walls of the tube. Otherwise, the graft was extruded from the neural tube. In this case, the quail cells often were found in dorsal or dorsolateral positions in the surrounding tissue. Sometimes, the wall of the neural tube formed an extrusion in the direction of the eliminated graft. On many occasions, however, spina bifida aperta was produced and no quail cells could be found in the host. CONCLUSION: The results suggest that diastematomyelia may be the result of abnormal mesodermal invasion of the neural tube. The development of a septum in the neural tube after implantation of a somite may mimic the process during spontaneous diastematomyelia formation, which could be the consequence of abnormal gastrulation, the process by which the two early germ layers of the blastodisc are converted into the three definitive germ layers.     

The incidence of spina bifida occulta in idiopathic scoliosis

A review of the roentgenograms of the spine of 100 patients with idiopathic scoliosis and 371 parents and siblings used as controls, showed an incidence of spina bifida occulta of 34 per cent and 41 per cent in their siblings. There was no increase in the incidence of spina bifida occulta in the patients with idiopathic scoliosis as compared with the control group. A review of the parents of these patients showed an incidence of spina bifida occulta of the lumbosacral area of 9 per cent in the mothers, and 13 per cent in the fathers, thus showing a decrease in the incidence of spina bifida occulta in the adult as compared with the teenager. The studies in the adult confirm the finding in the teenagers. There is no increased incidence of spina bifida occulta in idiopathic scoliosis.     

Neurourologic evaluation and urologic management of spinal dysraphism

The urologic management of the spina bifida child has evolved considerably over the past 10 years. Clinicians now more fully understand the nature of the bladder dysfunction and are therefore able to modify this behavior by either conservative or surgical measures. The spina bifida child and parents can now be confident that the bladder can be appropriately rehabilitated with significant improvement in quality of life.     

The N-terminus of Nef from HIV-1/SIV associates with a protein complex containing Lck and a serine kinase

A multi-center case-referent study was conducted on the relation between paternal occupational exposure and spina bifida in offspring. Cases were born between 1980 and 1992 in The Netherlands. Referents were recruited from hospitals and from the general population. Postal questionnaires were used to gather information on occupation and potential confounders. Through job-specific telephone interviews with 122 case fathers and 411 referent fathers, detailed exposure information was collected on specific tasks, the use of chemical or physical agents, frequency of exposure, and use of protective equipment. The study yielded statistically significant associations between spina bifida and low exposure to welding fumes (OR = 1.6, 95% CI: 1.0-2.6) and low exposure to UV radiation during welding (OR = 2.6, 95% CI: 1.2-5.6), and suggestive findings of an association between spina bifida and moderate or high exposure to cleaning agents, moderate or high pesticide exposure (OR = 1.7, 95% CI: 0.7-4.0), and stainless steel dust (OR = 2.0, 95% CI: 0.8-5.2). No associations were identified for other paternal occupational exposures, such as organic solvents.     

The impact of family, peer, and school contexts on depressive symptoms in adolescents with spina bifida.

Objective: Based on social ecological theory, this study examined the joint relations among adolescents' family, peer, and school contexts and depressive symptoms in youth with spina bifida using cumulative, protective, and specific effects models. Method: Sixty families of adolescents with spina bifida and 65 comparison families reported on adolescents' positive experiences within these contexts and on depressive symptoms when youth were 14–15 and 16–17 years old. Results: Adolescents with spina bifida had fewer total positive contexts and less positive experience within peer and school contexts, as compared to typically developing adolescents. Greater total number of positive contexts and higher levels of positive experiences within family and school contexts were associated with fewer depressive symptoms for both groups; peer positive experiences were related to lower depressive symptoms for typically developing adolescents only. Conclusion: Adolescents with spina bifida have fewer positive contexts, which may place them at risk for higher levels of depressive symptoms. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Behind the surgery doors. A look at what English general practitioners do

Since 1969, the Meningomyelocele Clinic at British Columbia's Children's Hospital has been serving the needs of children with spina bifida. In 1994, the clinic provided urgent and routine multidisciplinary clinical assessments to 330 patients and families. The purpose of this study was to assess, from the patients' and families' perspective, the appropriateness of the frequency of routine clinic visits and the value of the health services provided. Sixty-five patients/families were interviewed and completed a questionnaire developed by the clinic. Current visit frequency and services provided appear to meet the patient/family needs. The medical and nursing contributions were seen as valuable resources for the patient/families resulting in most patient/families feeling well informed about spina bifida.     

Depressive symptoms and self-concept in young people with spina bifida

Examined self-reported depressive symptoms in 72 young people with spina bifida, ages 9 to 18:11, and matched able-bodied comparison subjects, using the Dimensions of Depression Profile for Children and Adolescents (Harter & Nowakowski, 1987). Independent variables included gender, self-perceptions (including physical appearance), and perceived social support. Young people with spina bifida were at greater risk of depressive mood, low self-worth, and suicidal ideation. Girls, independent of disability, were at greater risk of depressive mood, low self-worth, and self-blame. Multiple regression analyses suggest that global self-worth serves as a mediating variable for the effect of physical appearance self-concept on depressed mood (particularly in young people with spina bifida), and that perceived parental social support has a direct effect on depressed mood (particularly in girls).     

Neural tube defects in chromosomally normal and abnormal human embryos

Neural tube defects (NTDs) were recognized in eight out of 91 intact embryos from spontaneous abortions and in one case of an induced abortion following prenatal diagnosis of a chromosomal disorder. Five of the nine cases showed chromosomal abnormalities. Trisomy 18 and triploidy were associated with spina bifida in three cases, trisomy 7 with parieto-occipital encephalocele and monosomy X with spina bifida and iniencephaly in one case. A sixth anencephalic embryo in which chromosomal analysis was not performed showed a malformation pattern highly suggestive for trisomy 18. Discussion focuses on the high rate and the type of chromosomal abnormalities among spontaneously aborted NTD embryos, on the contrasting phenotype of 45,X conceptions and on the morphogenesis of the different neural tube defects in early development. In view of future early endovaginal ultrasound diagnosis, the changing morphological pattern is exemplified, and ranges from apparently hyperplastic to degenerative alterations of the exposed neural tissue.     

Comparison of 55% TFA/CH2Cl2 and 100% TFA for Boc group removal during solid-phase peptide synthesis

Much has been written about closure of large spina bifida defects. There is an increased demand to close these defects irrespective of the final outcome of the patient. Plastic surgeons may become involved in the closure of large defects. Perforator vessels of the back passing through the latissimus fascia can maintain viability of triangular island flaps. Therefore, such flaps can be used to close the large midline defects of spina bifida. This article reviews the literature and presents a simple technique based on anatomical properties of the region surrounding the defect.     

Impact of a school-based prevention programme on traditional and egalitarian adolescents'' safer sex intentions

The mutant mouse strains splotch-delayed (Pax3Sp-d) and curly tail (ct) develop neural tube defects (NTDs) in the lumbosacral region of the neuraxis. Some research has focused on cell proliferation around the time of posterior neuropore closure in these mutants; however, there are little data on the effects of NTDs on cell birth at later stages of development. To investigate the role neural tube closure might play in cytogenesis of the spinal cord, the thymidine analog 5-bromo-2'-deoxyuridine (BrdU) was injected into pregnant splotch-delayed and curly tail mice at various stages of gestation. The mean number of labelled cells in the dorsal and ventral halves of spina bifida and control embryos was then calculated per section and per mm2. Mutagenically separated PCR (MS-PCR), was used to ascertain the genotype of splotch-delayed embryos. Our data indicate that the peak proliferation dates, for both the dorsal and ventral regions of the cord, are similar in spina bifida and control embryos. However, the quantity of proliferation is significantly different between affected and unaffected embryos. In general, there are markedly fewer cells born in spina bifida embryos in early neural tube development, followed by a short period of equal proliferation, and culminating in a significant increase in cell proliferation later in gestation. This increase in proliferation results in a greater number of cells being born in spina bifida embryos compared to controls. Several possible explanations for this phenomenon are considered, including the hypothesis that the roof plate, or other factors induced by neural tube closure, might have an anti-mitotic activity.     

Hydrodynamics of syringomyelia

Abnormality of CSF hydrodynamics is an important factor of the pathogenesis of syringomyelia. Recent development of cine-MRI visualized real time CSF movement in the syrinx or subarachnoid space. In the present study, twenty cases of syringomyelia associated with Chiari I malformation, 10 cases of syringomyelia associated with spina bifida aperta, and 10 cases of syringomyelia associated with spina bifida occulta were studied with MRI and cine-MRI. The result demonstrated that hydrodynamics of these three groups were different to each other. Chiari I malformation showed CSF hydrodynamic abnormality at the foramen magnum and marked flow void in the syrinx. On the other hand, myelomeningocele showed hydrocephalus and less prominent flow void in the syrinx. Spinal lipoma which is the majority of spina bifida occulta showed no abnormality of CSF hydrodynamics. In conclusion, the selection of treatments should be individualized depending on the hydrodynamical abnormality of each patient.