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S R Phadke

Publications and source records attributed to S R Phadke.

At least 19 recordsLinked to original sources
PubMed2006

Clinical utility of fetal autopsy and comparison with prenatal ultrasound findings.

OBJECTIVES: To present a comprehensive analysis of autopsy findings in 206 fetuses referred to our genetic center and to assess the clinical utility of fetal autopsy in reaching a final diagnosis, which is essential for counseling regarding the risk of recurrence. We also compared the autopsy findings with prenatal ultrasound findings to evaluate the potential benefit of fetal autopsy in fetuses terminated after prenatal diagnosis of malformations. STUDY DESIGN: Retrospective review of patient records in a tertiary referral genetic center in North India during 5-year period (April 2000-March 2005). This includes 206 fetuses, 138 terminated after detecting an anomaly in ultrasonogram and 68 spontaneous fetal losses. In all cases, fetal autopsy was carried out and complimented by radiography, karyotype wherever possible and histopathological examination wherever necessary. In fetuses with prenatally diagnosed malformations, ultrasound findings were compared with autopsy findings. RESULTS: Fetal autopsy was able to provide a definite final diagnosis in 59% (122/206) cases. Fetal autopsy confirmed the ultrasound findings in all cases but two. Moreover, autopsy provided additional findings in 77 cases and of these, 24 cases had a significant change of recurrence risk. CONCLUSION: This study confirms the utility of fetal autopsy in identifying the cause of fetal loss, which will help in the genetic counseling of the couple. In cases with prenatally diagnosed anomalies, the new information from fetal autopsy changes the predicted probability of recurrence in 18% cases. Even though the prenatal ultrasonogram reasonably predicts the malformations, fetal autopsy gives significant additional malformations in one-third of the cases and is essential for genetic counseling.

Abnormalities, Multiple↗
PubMed2004

Molecular diagnosis and genetic counseling for fragile X mental retardation.

The fragile X syndrome is the most frequent cause of inherited mental retardation. It is caused by a dynamic mutation: the progressive expansion of polymorphic (CGG)n trinucleotide repeats located in the promoter region of the FMRI gene at Xq27.3. The cloning of the FMRI gene and the elucidation of the molecular basis of the fragile X syndrome is of great importance for the diagnosis and understanding of this unusual type of mutation. Although extensively studied, the mechanism behind the transition from stable normal (CGG)n alleles to the carrier state (an unstable premutation) and from premutation to mutation is partially understood. The clinical diagnosis of fragile X mental retardation (FXMR) is not possible as dysmorphic features are subtle. Molecular diagnosis by Southern Blot is the confirmatory test that makes carrier detection and prenatal diagnosis possible. As the risk of recurrence of FXMR is high in the family and carrier relatives, an identification of fragile X positive children, and offering carrier detection and prenatal diagnosis to the families is very important. It is possible by screening mentally retarded children and adults even if there is no family history of mental retardation or typical behavioral or physical features associated with the fragile X phenotype. In this review we have discussed the method for the diagnosis and counseling of the families. The complexities due to premutation and the variable severity of manifestations in carrier females need to be understood while counseling fragile X families.

Animals↗
PubMed2003

Low level of mosaicism in atypical Prader Willi syndrome: detection using fluorescent in situ hybridization.

Prader Willi syndrome (PWS) most commonly is due to paternal micro-deletion of 15q11-q13. Although PWS is not a rare condition, mosaic micro-deletion cases are reported rarely. FISH using PWS micro-deletion probe is the most useful method to detect deletion including mosaicism. In this report we describe a female child with clinical features of atypical PWS and FISH analysis showing mosaicism for deletion in the PWS critical region. This is first mosaic deletion case of PWS from Indian subcontinent.

Child↗
PubMed2003

Internet resources for hemato-oncologist.

AIM OF THE STUDY: To find out sites of interest for the hemato-oncologist on the internet. METHODOLOGY: Use of search engines like www.google.com and www.yahoo.com and selective identification of the relevant sites by thorough browsing. RESULTS: There are several sites which can be useful to the hemato-oncologist. Some of the sites are related to hematology, hemato-oncology, hemato-pathology, etc. were as some are disease specific e.g., thalassemia, hemophilia, myelodysplastic syndrome. Reliability of the sites have to be judged carefully. CONCLUSIONS: Certain sites provide specific information for selected diseases, and accordingly online browsing is required. Latest articles can be retrieved from Pubmed, Biomednet (www.bmn.com) and few general haematology sites like www.medweb.emory.edu and the cancer-related site www.aacr.org. The benefits of internet include rapid access to relevant information, easy use and also e-consultations.

Hematology↗
PubMed2002

Clinical and molecular diagnosis of spinal muscular atrophy.

The spinal muscular atrophies are a group of disorders characterized by flaccid limb weakness. It is necessary to differentiate these from other causes and identify the SMA variants. In classical SMA, majority of the patients shows homozygous deletion of the telomeric SMN gene (SMN1) on chromosome 5q. The availability of DNA analysis has allowed proper genetic counseling and prenatal diagnosis in the affected families. Application of newer techniques has enabled more accurate carrier detection. Our objective is to stress the variability in the clinical features and recent advances in the molecular diagnosis for SMA.

Genetic Carrier Screening↗
PubMed2002

Clinical profile of hereditary spherocytosis in North India.

AIMS OF THE STUDY: Hereditary spherocytosis (HS) is a familial hemolytic disorder manifesting as anaemia, recurrent jaundice, splenomegaly with marked heterogeneity in clinical presentation. The objective was to study the clinical spectrum of the disorder in India. METHODOLOGY: We studied 50 HS patients and followed them for up to six years (Age range 2-47 years). RESULTS: The presenting features were jaundice 35 out of 50, anaemia 30 out of 50 (requiring blood transfusion in 25). Splenomegaly was found in all patients. Increased osmotic fragility was found in all patients whereas spherocytes were found in only 19 out of 42 patients. Reduced red cell survival was noted in 9/12 patients studied with 51Cr labeled RBCs. There was a definite improvement in the hemoglobin values in those who underwent splenectomy. Thirteen cases had similarly affected family member/s. Fifteen of the cases had family history consistent with autosomal dominant (AD) inheritance (eight families) while in six cases (5 families), inheritance was likely to be autosomal recessive (AR). There was intrafamilial variability in the age of presentation in the AD families. CONCLUSIONS: Our results suggest that both autosomal dominant and recessive patterns of HS are seen in India and the clinical profile of the Indian HS patients is similar to that described in other populations. HS presenting in childhood is also not uncommon. However, the predominant underlying protein defect in Indian patients needs to be characterized.

Adolescent↗
PubMed2001

Carrier detection in non-deletional Duchenne/Becker muscular dystrophy families using polymorphic dinucleotide (CA) repeat loci of dystrophin gene.

BACKGROUND & OBJECTIVES: Carrier detection and prenatal diagnosis is of great importance for families with one or more sons affected with Duchenne/Becker muscular dystrophy (D/BMD). In about 35-40 per cent of these patients, the causative mutation does not involve gross rearrangement in the structure of dystrophin gene. In these non-deletional families, genetic counselling can be provided only by linkage analysis. The aim of the present study was to determine the carrier status of female relatives in north Indian families with non-deletional D/BMD using highly polymorphic intragenic dinucleotide (CA) repeat markers. METHODS: Six short tandem repeats (STRs) spanning 5' (1), central (4) and 3' regions of the dystrophin gene were used to analyse 14 unrelated families comprising 68 individuals with 12 female siblings at risk of being carriers. RESULTS: Five female siblings inherited at risk STR haplotype, six inherited normal haplotype and one had meiotic recombination. The intragenic recombinations were observed in three families at the central region STR loci and in one family between the proximal and central regions of the gene. INTERPRETATION & CONCLUSIONS: Our study suggested that at least 6 STR markers spanning 5', central and 3' regions of the dystrophin gene are essential to ascertain one or more informative loci and to rule out recombinations in non-deletional D/BMD families for carrier analysis.

Dinucleotide Repeats↗
PubMed2000

Linear catch-up growth.

Chronic diseases and malnutrition cause growth failure in childhood and adolescence. Correction of the cause of a growth deficiency is usually followed by catch-up growth. Capacity to catch-up is not only variable in different phases of growth, it is also different in different diseases and among different individuals suffering from the same disease. Catch-up growth is of three types. In type 1 catch-up growth, height deficit is swiftly eliminated after the growth restriction ceases. In type 2, after growth restriction ceases growth continues for longer than usual and growth arrest is compensated. Type 3 is a mixture of type 1 and type 2. Repeated episodes of growth inhibitory conditions result in lower catch-up rates in the subsequent periods. Although the exact mechanism regulating catch-up growth still remains a mystery, monitoring catch-up growth remains an important measure of the efficacy of the therapy and therefore of immense clinical importance.

Adolescent↗
PubMed1999

Pachygyria/hypogenitalism: A monogenic syndrome.

We describe the clinical and neuroimaging findings of two severely retarded boys born to consanguineous parents. This appears to be a monogenic condition of abnormal neuronal migration associated with hypogenitalism. Reports of other monogenic syndromes of neuronal migration abnormalities are reviewed.

Cell Movement↗
PubMed1999

Complex camptopolydactyly: an unusual hand malformation.

Different types of polydactylies and other hand malformations are commonly seen. Here, we describe a very unusual type of hand malformation characterised by campto-polydactyly with totally disorganised configuration of digits. The role of possible genes involved in development of hands and digits is discussed.

Bone Morphogenetic Proteins↗
PubMed1999

Oral-facial-digital syndrome with acromelic short stature: a new variant--overlap with Ellis Van Creveld syndrome.

The Oral-Facial-Digital syndromes (OFDS) are a heterogeneous group of disorders having common oral, facial, and digital malformations. Here, we report a consanguineous family with a new variety of OFDS associated with acromelic short stature and genu valgum; the features overlapping with Ellis Van Creveld syndrome. One of the sibs has urinary incontinence and growth hormone deficiency, which has not been reported earlier in any type of OFDS in the literature.

Body Height↗