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S R Phadke

Publications and source records attributed to S R Phadke.

At least 19 recordsLinked to original sources
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↗
PubMed1998

Further delineation of a new (Van Den Ende-Gupta) syndrome of blepharophimosis contractural arachnodactyly, and characteristic face.

We report on 2 unrelated Indian girls with blepharophimosis, arachnodactyly, digital contractures which improved spontaneously, elbow deformity, beaked nose, everted lips, and large ears, findings similar to those in 2 cases reported previously by Van Den Ende et al. [1992, Am J Med Genet 42:467-469] and Gupta et al. [1995, J Med Genet 32:809-812], thus delineating a new syndrome of contractural arachnodactyly with characteristic facial anomalies.

Blepharophimosis↗
PubMed1997

Mseleni and Handigodu familial osteoarthropathies: syndromic identity?

Mseleni joint disease (MJD) and Handigodu joint disease (HJD) are familial skeletal disorders that affect several hundred persons in northern Zululand, South Africa and in the Shimoga district of southern India, respectively. Severe precocious, progressive degenerative osteoarthropathy, which occurs in both conditions, causes marked physical handicap by adulthood. The clinical and radiological manifestations of MJD and HJD are very similar and it is possible that they represent the same entity. HJD appears to be inherited as an autosomal dominant trait, while MJD clusters in families without a definite Mendelian pattern. It is possible that an environmental factor is active in the pathogenesis of both disorders and comparative investigations would be fruitful. The predominance of severe degenerative osteoarthropathy in both disorders may have important implications for the elucidation of the pathogenesis of the common conventional forms of osteoarthropathy.

Body Height↗