Vinita Singh

Bio: Vinita Singh is an academic researcher from Sanjay Gandhi Post Graduate Institute of Medical Sciences. The author has contributed to research in topics: Single-nucleotide polymorphism & Hydrocephalus. The author has an hindex of 4, co-authored 8 publications receiving 104 citations. Previous affiliations of Vinita Singh include King George's Medical University.

Proportion and Pattern of Dystrophin Gene Deletions in North Indian Duchenne and Becker Muscular Dystrophy Patients

Abstract: Population-based variations in frequency and distribution of dystrophin gene deletions have been recognized in Duchenne/Becker (DMD/BMD) muscular dystrophy patients. In the present study, DNA samples from 121 unrelated DMD/BMD patients from North India were analyzed for deletional studies with multiplex PCR and Southern hybridization. A total of 88 (73%) patients showed intragenic deletions in the dystrophin gene. The observed proportion of gene deletions is relatively high, particularly compared with that of Asian counterparts. However, the distribution of breakpoints across the gene does not show significant variations.

Comparative study of complex spina bifida and split cord malformation.

Abstract: Objective: To see the difference in clinical profiles, radiological findings and surgical outcome of the group 1 split cord malformation and meningomyelocele (SCM with MMC) from group 2 (SCM without MMC).Methods: 46 patients of SCM were selected from a total of 138 cases of spinal dysraphism. They were divided into two groups, based on presence or absence of MMC. Group I (SCM with MMC) n=19 patients and Group II (SCM without MMC) n=27 patients. A detail clinical evaluation and MR screening of whole spine of all cases was performed. All patients underwent surgical detethering of cord. After an average follow-up of 1.7 years, the operative results were clinically assessed and statistical significance was calculated.Results: Male to female ratio was 1:09. Mean age of presentation was 3.6 years. Cutaneous markers like tuft of hair, cutaneous haemangioma, etc, had a higher incidence in group II in comparison to group I (50% vs 10.5%). The incidence of motor deficits was significant in group I in comparison to group II (63% vs 40%). The incidences of sensory loss, trophic ulcers, sphincteric dysfunction and muscle atrophy were relatively more common in group I patients, while neuro-orthopedic deformities such as congenital telepes equinovarus (CTEV), scoliosis and limb shortening were more frequent (67%) in group II children as compared to group I (53%). Type I SCM has higher incidence in group I children. Low lying conus were found in 47% patient of group I, while in group II it was noticed in 69%. The associated cranial anomalies like hydrocephalus, ACM and syrinx, were slightly higher in group I patients. At surgery, dysgenetic nerve roots, neural placode, arachnoid bands and atrophic cord were seen mainly in group I. Postoperative complications like, CSF leak, pseudomeningocele and meningitis were more commonly encountered in group I patients. The patients of group II showed better operative outcome compared to group I cases.Conclusion: Incidence of SCM with MMC amount to 41% of total SCM cases. Progressive neurological deficit was higher in this group (SCM with MMC) in comparison to the group harboring SCM without MMC. In view of a significant association of SCM in MMC cases, associated with other craniospinal anomalies, a thorough screening of neuraxis (by MRI) is recommended to treat all treatable anomalies simultaneously for desired outcome.

Shunt revision in hydrocephalus

Abstract: Objective : A retrospective analysis of 50 hydrocephalic children having a minimum follow-up of 6 months was carried out to see their etiology, clinical features, complications, incidence of shunt revisions, outcome and the variation from their Western counterparts.Methods : Clinical features, image findings and treatment of all the cases were recorded from their discharge summaries. Record of shunt revision complications and outcome was maintained by the principal author. The data of all the cases were analyzed.Results : The age of children varied from 1 month to 12 yr (mean 2.2 yr). The most common etiology of hydrocephalus was aqueductal stenosis in 18 (36%) children. Post infective hydrocephalus, either of post-tubercular meningitis (TBM) or following bacterial meningitis, remained the cause in 15 children (30%). Congenital TORCH infection was responsible for 3 cases of hydrocephalus making infective etiology as the cause in 18 (36%) cases. Intra 4th ventricular neurocysticercus cyst caused blockade of CSF pathway in 2 children. 15 out of 50 children required shunt revision, either due to infection (8,16%) or shunt obstruction (7, 14%). Multiple shunt revisions were required in 2 children only. These revisions were required due to infection, obstruction or malfunction of the shunt.Conclusions : Infective etiology is responsible for hydrocephalus in significant number of children (36%). The possibility of TORCH infection, as a cause of hydrocephalus should be considered even amongst the children of screened mothers during antenatal check-up. Pure intra 4th ventricular neurocysticercus cysts (without intraparenchymal cyst), though rare, can manifest with outlet obstruction. Incidence of shunt revision using Chhabra’s medium pressure shunt is very high in children at an average follow up of 1.6 yr. Post infective hydrocephalus is a major cause of delayed milestones, contributing to mental retardation.

Ascites in ventriculoperitoneal shunt.

Abstract: Objective : To fetch out the factors responsible for ascites, following shunt CSF diversion in cases of intracarnial lesions. Four children developing ascites/abdominal psuedocyst following ventriculoperitoneal shunt were analyzed to see the factors responsible for such complication.Methods : Records of 4 cases developing ascites were studied retrospectively. These children developed ascites at 8 months, 6 months, 1 year and 1 year 2 months interval following their shunt installation.Resuts ;The primary etiology of hydrocephalus was demonstrated as thalamic glioblastoma, choroid plexus papillomas of third ventricle, post tubercular meningitis hydrocephalus and suprasellar craniopharyngioma.Conclusion: The proposed etiology of ascites in these cases was peritoneal metastasis from thalamic glioblastoma through ventriculoperitoneal shunt in first case, excessive production of CSF by choroid plexus papilloma in second, infection in the third case and craniopharyngioma causing excessive production of CSF in the fourth child. All the children were treated by reasonable laparotomy and fenestration of cyst along with the repositioning of shunt tip at another site.

Split cord malformation in children undergoing neurosurgical intervetion in India: a descriptive study

Abstract: To describe the clinical parameters, radiological findings and surgical outcome of 49 cases of split cord malformation (SCM). Forty nine patients of SCM were operated between June 1989 and June 2002, at Sanjay Gandhi postgraduate institute of medical sciences, Lucknow, India out of total 155 cases of spinal dysraphism. Detailed clinical evaluation with magnetic resonance imaging (MRI), preferably craniospinal, was main tool of investigation. All patients underwent excision of bony spur or fibrous septum, repair of associated myelomeningocele sac, when present, excision of associated spinal lesions and detethering of cord. Seven patients needed shunt operation. Patients having minimum 11⁄2 month of follow up were included in this analysis. Mean follow-up period was 3.4 years. Female to male ratio was 1.04: 1, with mean age of 4.8 years. The commonest cutaneous manifestation was hypertrichosis in 16 (32.7%) cases and among the neuro-orthopedic syndromes, most frequent were scoliosis in 16 (32.7%) and congenital talipes equino varus in 11 (22.4%) cases. The commonest clinical indicators were lower limb weakness, graded sensory loss, sphincter involvement, and autoamputation of toes and trophic ulcer in 24, 20, 14, two and four patients, respectively. Common imaging findings were low lying cord in 28, neural placode in 19, and SCM with and without meningomyelocele (MMC) sac in 20 and 29 cases, respectively. Common sites of occurrence of SCM were dorsal region in 19 (38.8%) and lumbar in 14 (28.6%) patients. Postoperative complications were cerebrospinal fluid leak, pseudomeningocele, wound infection, and meningitis in 12, eight, four and six patients, respectively. Two patients died in the postoperative period. On average follow up of 3.4 years, motor weakness improved in 10 children and remained static in 14, whereas sensory dysfunction improved in 13 and remained static in seven, and sphincteric function improved in 10 and was static in four cases. Backache dramatically relieved in both children and in all four patients, trophic ulcer completely healed. SCM cases may have association with MMC in significant number of patients hence craniospinal MRI remains the choice, as this will not only delineate complex spina bifida and cord anatomy, but also screen the entire neuraxis for other associated cranial and spinal anomalies. (J Pediatr Neurol 2004; 2(1): 21-27).

Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients

Abstract: The dystrophin deficiency leading to the severely progressing muscle degeneration in Duchenne muscular dystrophy (DMD) patients is caused by frame-shifting mutations in the DMD gene. We are developing a reading frame correction therapy aimed at the antisense-induced skipping of targeted exons from the premRNA. Despite introducing a (larger) deletion, an in-frame transcript is generated that allows the synthesis of a slightly shorter, but largely functional dystrophin as found in the mostly milder Becker muscular dystrophy (BMD). We have recently demonstrated both the efficacy and high efficiency of the antisense-induced skipping of numerous exons from the DMD transcript in control muscle cells. In principle, this would restore the reading frame in over 75% of the patients reported in the Leiden DMD mutation database. In this study, we in fact demonstrate the broad therapeutic applicability of this strategy in cultured muscle cells from six DMD patients carrying different deletions and a nonsense mutation. In each case, the specific skipping of the targeted exon was induced, restoring dystrophin synthesis in over 75% of cells. The protein was detectable as soon as 16 h post-transfection, then increased to significant levels at the membrane within 2 days, and was maintained for at least a week. Finally, its proper function was further suggested by the restored membranal expression of four associated proteins from the dystrophin–glycoprotein complex. These results document important progress towards a clinically applicable, small-molecule based therapy.

Shunts vs endoscopic third ventriculostomy in infants: are there different types and/or rates of complications? A review.

Abstract: The decision-making process when we compare endoscopic third ventriculostomy (ETV) with shunts as surgical options for the treatment of hydrocephalus in infants is conditioned by the incidence of specific and shared complications of the two surgical procedures. Our literature review shows that the advantages of ETV in terms of complications are almost all related to two factors: (a) the avoidance of a foreign body implantation and (b) the establishment of a ‘physiological’ cerebrospinal fluid (CSF) circulation. Both these kinds of achievements are particularly important in infants because of the relative high rate of some intraoperative (i.e. abdominal) and late (secondary craniosynostosis, slit-ventricle syndrome) shunt complications in this specific subset of patients. On the other side, the main factor which is claimed against ETV is the relatively high risk of immediate mortality and neurological complications. Clinical manifestations of neurological structure damage seem to be more frequent in infants, probably due to the more relevant effect of parenchymal and vascular damage in this age group; however, both the immediate mortality and neurological damage risk of ETV procedures should be weighted against the long-term mortality and the late neurological damage which is not infrequently described as a consequence of shunt malfunction and proximal shunt revision procedures. Infections are possible in both ETV and extrathecal CSF procedures, especially in infants. However, the incidence of infective complications is significantly lower in case of ETV (1–5% vs 1–20%). Moreover, different from shunting procedures, infections in children with third ventriculostomy have a more benign course, being generally controlled by antibiotic treatment alone.

Intraabdominal complications secondary to ventriculoperitoneal shunts: CT findings and review of the literature.

Abstract: OBJECTIVE. The purpose of our study was to evaluate the abdominopelvic CT findings of various intraabdominal complications secondary to ventriculoperitoneal shunts for hydrocephalus and to review the literature.MATERIALS AND METHODS. The CT images of 70 patients (33 men and 37 women; mean age, 48.5 years) who underwent ventriculoperitoneal shunt placement and abdominopelvic CT because of shunt-related abdominal symptoms were reviewed retrospectively. CT images were analyzed with regard to the location of the shunting catheter tip; site, size, wall, and septa of localized fluid collection; peritoneal thickening; omentomesentery infiltration; abscess; bowel perforation; abdominal wall infiltration; and thickening of the catheter track wall.RESULTS. The mean period between the last ventriculoperitoneal shunting operation and CT was 11 months (range, 1 week to 115 months), and the mean number of ventriculoperitoneal shunting operations undergone was 1.4 (range, 1–6). A total of 76 ventriculoperitoneal shuntin...

Trans-anal protrusion of ventriculo-peritoneal shunt catheter with silent bowel perforation: report of ten cases in children.

Abstract: Ventriculo-peritoneal (VP) shunting used in the treatment for hydrocephalus is associated with several complications. Mechanical failure of shunt is the commonest complication of all. Visceral/bowel perforation is an unusual but serious complication of VP shunting. This article reports our experience in the management of ten children who had VP Shunt catheter protrusion from anus. This is a retrospective study of ten patients who had VP shunt catheter protrusion from anus, admitted in the department of paediatric surgery between Jan 1996 and Dec 2005. The records of above ten cases were reviewed for their clinical presentation and management, etc. We had performed 398 VP shunt operations in the last 10 years. Two hundred and seventy one (68.09%) VP Shunts were done for congenital hydrocephalus of which 164 were done in infancy/neonatal period and 107 VP shunts were done in the age group of >1-12 years. One hundred and twenty-seven (31.90%) VP shunt operations were done for patients who had hydrocephalus as a complication following tubercular meningitis (TBM). Out of 398 VP shunts, ten patients (2.51%) had protrusion of the distal end of peritoneal catheter from anus without causing/leading to peritonitis. We observed a 08.29% mortality of all VP shunt operations. Protrusion of VP shunt catheter per rectum can occur without producing peritonitis. Formal exploration and localization of entry of VP shunt catheter in bowel is not mandatory. Mini laparotomy and revision of peritoneal part of shunt can be done if there is no shunt infection.

Ascites and abdominal pseudocysts following ventriculoperitoneal shunt surgery : variations of the same theme

Abstract: Object Ascites and abdominal pseudocysts are two complications that can occur following placement of a ventriculoperitoneal (VP) shunt. Although various factors have been implicated, the exact pathogenesis of the two conditions remains elusive. To the authors' knowledge, there are no studies in which these two obviously related conditions have been compared. Methods The authors retrospectively reviewed the cases of children with abdominal complications caused by a VP shunt. There were 15 patients who developed a pseudocyst and five patients who developed ascites. The cases were analyzed to identify common and distinguishing factors that may help in identifying the mechanism involved. Abdominal symptoms were the mode of presentation for patients with ascites, whereas shunt malfunction was the mode of presentation in 60% of those with pseudocysts. Culture-proven infection, abdominal surgery, and the number of revisions seemed to be more common in cases with pseudocysts than in ascites. The fluid in ascites ...