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Estimation and correlation of serum folic acid levels in spina bifida babies and their mothers  [cached]
Gupta D,Pandey A,Gangopadhyay A,Prasad S
Journal of Pediatric Neurosciences , 2008,
Abstract: Spina bifida is a common neural tube defect. The relative deficiency of folic acid (FA) in mother during periconceptional period is an important factor. We measured the serum FA levels in spina bifida babies and their mothers and compared the result with the FA level in normal babies. The blood samples were collected at the time of admission to hospital. Enquiry made about the age, sex, and birth order, problem in siblings and FA supplementation and detailed examination done to access the severity of the problem. Folic acid estimation was done by enzyme-linked immunosorbent assay method. Antenatal FA supplementation was found in 40% of cases and 80% of control group. In the study group, the mean FA level in babies and mothers of FA supplemented group was 21.73 ± 5.64 ng/dl and 15.02 ± 3.02 ng/dl and in non-supplemented group were 7.41 ± 1.48 ng/dl and 4.12 ± 0.81 ng/dl, respectively. In control group mean FA level in babies and mothers of FA supplemented group were 16.88 ± 3.2 ng/dl and 14.70 ± 2.30 ng/dl and in nonsupplemented group were 14.33 ± 1.74 ng/dl and 10.75 ± 1.34 ng/dl, respectively. The serum FA levels in spina bifida babies as well as in their mothers were significantly low as compared to control group. This study suggests that the low serum FA levels in a lady at the time of pregnancy may be a causative factor in the pathogenesis of spina bifida and low levels in affected babies.
Dermatoglyphics of mothers of Malawian children with spina bifida cystica: A comparative study with female controls
PS Igbigbi, A Adeloye
West African Journal of Medicine , 2005,
Abstract: Dermatoglyphic traits are formed under genetic control early in development and do not change thereafter, thus maintaining stability not affected by age. Methodology: We determined the dermatoglyphic traits of mothers of children with spina bifida cystica and compared then with controls matched for number, age and parity, by counting and classifying palmar, plantar and digital ridge pattern configurations of arches, loops, whorls and ridges based on standard techniques. Results: Palmar pattern types, showed absence of arches, significantly higher frequency of whorls (P > 0.05), lower total finger ridge count (TFRC) and higher Pattern Intensity Index (PII) in these mothers than in the controls (P > 0.001). However, no significant differences were observed between both groups in atd angle and a-b ridge count (P = 1.30, 0.70 respectively). Plantar pattern types showed loops restricted to the first two digits and absence of arches in the first digit in these mothers compared to controls in whom there were loops in the first four digits and a 100% frequency of arches. Similarly, PII was higher and Dankmeijer's Index (DI) lower in these mothers than in controls. Conclusion: Our findings demonstrate dermatoglyphic differences between both groups that suggest that mothers presenting with these traits are more predisposed to giving birth to children with spina bifida cystica.
Frecuencia del polimorfismo C677T de la 5, 10-metilentetrahidrofolato reductasa (MTHFR) en mujeres chilenas madres de afectados con espina bífida y en controles normales Frequency of C677T polymorphism of 5, 10-methylenetetrahydrofolate reductase (MTHFR) in Chilean mothers of spina bifida cases and controls  [cached]
Felipe Nitsche V,M Angélica Alliende R,J Luis Santos M,Francisco Pérez B
Revista médica de Chile , 2003,
Abstract: Background: Several population studies have shown that patients with neural tube defects (NTD), have a higher frequency of a genetic mutation related with thermolability of the enzyme 5,10-metylentetrahydrofolate reductase (MTHFR). There are regional and ethnic variations in the genotypic or allelic frequency of this mutation and its possible relationship with NTD and others congenital anomalies. Aim: To estimate the frequency of the C677T polymorphism of MTHFR in control women and mothers of spina bifida cases. Patients and Methods: We analyzed 58 blood samples from mothers who had a child diagnosed with spina bifida. A group of 184 healthy mothers matched by age and with no NTD offspring served as controls. We determined the C677T polymorphism on the MTHFR gene by means of PCR and the analysis of the digestion pattern of HinfI restriction enzyme. Results: The genotypic frequencies showed concordance with Hardy-Weinberg equilibrium, in controls (p=0.35), and in mothers of the cases (p=0.95). The odds ratio to the TT genotype compared with the CC genotype (reference category) was estimated as 1.54 (IC 95%: 0,66-3,61), while the odds ratio for the TC genotype compared with CC genotype was 1.06 (IC 95%: 0,48-2,33). Conclusion: No differences in the C677T polymorphism of the MTHFR were observed between mothers who had a child diagnosed with spina bifida and control mothers (Rev Méd Chile 2003; 131: 1399-404).
Total spina bifida occulta of the sacrum  [PDF]
Senoglu N,Senoglu M,Gumusalan Y
International Journal of Anatomical Variations , 2008,
Abstract: Spina bifida occulta results from abnormal neurulation, characterized by incomplete dorsal midline closure of the osseous tissues; thus leaving the spinal cord relatively unprotected. Spina bifida occulta of the sacrum is the most common type of spinal abnormality. We report a case of total spina bifida occulta, in a dried sacrum specimen. This developmental defect must be considered for the sake of patient safety before undertaking caudal epidural block. If not, serious complications such as dural puncture may easily occur.
Hydrocephalus in Children with Spina Bifida  [PDF]
Sanjay sadhu, H.L.Goswamy, S.K.Gupta, Inder Singh, Nasib C. digra, Ravinder Gupta
JK Science : Journal of Medical Education & Research , 2003,
Abstract: A prospective study consisting of 50 infants having spina bifida and cranium bifidum and relationshipof hydrocephalus was carried out. The male preponderance was obvious (1.7:1) with majority ofinfants being less than 3 months. The presenting complaint in almost all the children was swellingon back or head. Lumbar spine was affected most commonly with 36% children having lesion atthis site followed by lumbosacral (20%) and occiptal (16%). Neuromuscular deficit was present in32% cases. Clinical evidence of hydrocephalus was seen in 22% children. X-ray si~ull was suggestiveof hydrocephalus in 22% cases. Ultrasound examination of skull confirmed the diagnosis in 52%cases. Hydrocephalus had no specific relationship with site of lesion. It was more commonlyassociated with neurological deficit. Sonographic examination is relatively cheaper and invaluableinvestigation. and should be done routinely in patients with spina bifida.
Cutaneous Markers Of Spina Bifida Occulta  [cached]
Mittal R.R
Indian Journal of Dermatology , 1999,
Abstract: One four-year female child tuft of hair with underlying soft subcutaneous mass over lumbosacral region since birth. In the midline, there was a dimple with central sinus and peripheral folds of skin. Spina bifida occulta was suspected. Diagnosis was confirmed by x-ray and patient was advised corrective surgery.
Renal involvement in children with spina bifida  [cached]
Kari Jameela,Safdar Osama,Jamjoom Roaa,Anshasi Wasim
Saudi Journal of Kidney Diseases and Transplantation , 2009,
Abstract: Renal scarring and renal failure remain life-threatening for children born with spinal dysraphism. An early start of therapy helps to safeguard renal function for such children and avoid end-stage renal disease. However, optimal care is not always available in developing countries. We reviewed our data on all newborns with spina bifida who were born at King Abdulaziz University Hospital between 1997 and 2006. Thirty-three children with myelomeningocele (MMC) were eva-luated; MMC site was thoracolumbar in 26 patients (77.1%) and in the lumbosacral area in 7 patients (22.9%). The mean age at the time of evaluation was 5.4 ± 2.3 years. Thirty (90%) patients presented with neurogenic bladder, and 26(78%) with vesico-uretral reflux (VUR). Only 8 patients (group A) received clean intermittent catheterization (CIC), while the rest (group B) were either non-complaint or not on any therapy. Urinary tract infections overall were 4.5 ± 3.8 per year. Patient undergoing CIC had a lower number of UTI (mean per year) 3.3 ± 1.2 vs 6.6 ± 2.3. Sixty two percent of group A had VUR compared with 93% in group B. The mean creatinine was 46 ± 39 μmol/L for the whole group. However, group A had a lower mean creatinine 38 ± 11 compared to 50 ± 34 in group B. In conclusion, early intervention to relieve urinary retention in children born with spina bifida resulted in preserving renal function and less incidence of VUR and UTI. There is a need of more awareness about the importance of starting proactive treatment of risks of upper urinary tract disease and development of renal failure in babies with spina bifida.
Spina Bifida: Rehabilitation Problems in Rural Setting
Joshi GA,Dash H
Indian Journal of Physical Medicine and Rehabilitation , 2007,
Abstract: A follow up of four cases from a composite disability identification camp is presented here. The purpose of this case study is to reveal socioeconomic and access barriers for the children affected by spina bifida in the rural India. At the end are suggested some of possible ways and means to deliver rehabilitation services to them.
Spina Bifida Occulta in Persistent Primary Nocturnal Enuresis
"A. Kajbafzadeh,L. Espandar,M. Mehdizadeh,P. Tajik
Iranian Journal of Radiology , 2004,
Abstract: Background/Objectives: Of congenital malformations of the central nervous system 46% are abnormalities of the spinal cord, which includes spina bifida occulta (SBO). The occurrence and significance of spina bifida occulta in patients with persistent primary nocturnal enuresis (PPNE) were evaluated. Materials and Methods: Between January 2000 and February 2001, 109 consecutive children who had nocturnal enuresis more than once a week after the age of 7 years for an uninterrupted period of at least 3 months, with less than 50% reduction in wet nights despite different treatments for at least 6 months, were prospectively evaluated for the presence of associated spina bifida occulta. The results were com-pared with data from a group of 40 normal children. Results: The mean age was 9.9 years in PPNE patients and 7.5 years in normal group. SBO was present in 86 (78.9%) of PPNE patients and 10 (25%) of normal children. This difference was statistically significant using chi-square test. (P-value < 0.001) Conclusion: Spina bifida occulta was thought to have no clinical significance but our results showed its significant higher rate among PPNE patients. There is no direct causal relation between spina bifida occulta and enuresis, apparently, but the findings suggest a common developmental etiology.
Spina Bifida Defying Folic Acid Supplementation  [PDF]
Raveenthiran V
Journal of Neonatal Surgery , 2012,
Abstract: Pre-conceptional supplementation of folic acid is well known to reduce the incidence of spina bifida. But Athena is frequently perplexed to see this anomaly occurring despite folate supplementation. In a largest Canadian study, De Wal et al [1] screened 1.9 million live births to study the effect of mass fortification. On comparing pre and post fortification periods they noted only 46% reduction in the incidence of neural tube defects (NTD). What happens to the remaining 54%? Why do they defy “folic acid” logics? Recently several publications have shed more light on this intriguing question.
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