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Biomedical subjects

Ratna Dua Puri

Publications and source records attributed to Ratna Dua Puri.

7 recordsLinked to original sources
PubMed2005

Leber's hereditary optic neuropathy with molecular characterization in two Indian families.

PURPOSE: Leber's hereditary optic neuropathy (LHON) presents in early adulthood with painless progressive blindness of one or both eyes. Usually there is a positive family history of similar disease on the maternal side. Definitive diagnosis can be established by finding the change in the mitochondrial gene. No molecular studies have been reported from India. MATERIAL AND METHODS: Clinical, ophthalmologic and molecular studies were carried out in two patients from different families and available first degree relatives. The subjects were tested for the three common mutations seen in LHON by molecular techniques of polymerase chain reaction using mutation specific primers. RESULTS: The mutations G3460A and G11778A in the mitochondrial genes MTND1 and MTND4, known to be causative for LHON, were found in one family each. CONCLUSION: Diagnosis of LHON should be considered in familial cases and in young adults with optic atrophy. Confirmation of diagnosis should be sought by molecular gene analysis. Genetic counselling should be offered to all 'at risk' relatives of a patient harbouring the mutation.

Adolescent↗
PubMed2004

Dysmorphology diagnosis.

A patient with multiple malformations poses a diagnostic dilemma to the pediatrician. There are thousands of malformation syndromes described and diagnosis of a syndrome appears a daunting task. An approach to diagnosis of a malformation syndrome is presented. Relevant details in the history and examination, important investigations, the process of differential diagnosis, and search engines used to aid in diagnosis of a malformation syndrome are described.

Child↗
PubMed2004

Genetic counseling: the impact in Indian milieu.

OBJECTIVE: To assess the impact of genetic counseling in Indian milieu. METHODS: A study of 83 Indian consultants who were provided genetic counseling was carried out to understand their expectations, satisfaction with genetic counseling and its effects on reproductive decision. RESULTS: Most of the families were referred for the diagnosis and the treatment of the disorder in the proband. The consultants understood the medical facts about risk of recurrence and were satisfied with genetic counseling. There was no change in reproductive plan after genetic counseling in most of the cases. CONCLUSION: The reproductive decision was mainly correlating with the presence or absence of normal live children in the family and availability of prenatal diagnosis.

Genetic Counseling↗
PubMed2003

Catel-Manzke syndrome without cleft palate: a case report.

We report a boy who presented with mild facial dysmorphism, pectus excavatum, bilateral brachydactyly and ulnar deviation of both index fingers. Radiological examination of the hands showed abnormal proximal phalanges of the second digits. This case differs from the classical Catel-Manzke syndrome in having isolated hand malformations without any other malformations such as cleft palate or cardiac abnormalities.

Abnormalities, Multiple↗
PubMed2002

Further delineation of mandibulofacial dysostosis: Toriello type.

We report a boy who presented with mild mandibulofacial dysostosis, growth retardation with microcephaly, bilateral hearing loss, thoracic deformity with a cardiac valvular lesion and bilateral cryptorchidism. The pattern of malformations differs from the classical Treacher Collins syndrome. We consider it to be mandibulofacial dysostosis (MFD), Toriello type with some additional features.

Adolescent↗
PubMedDate not supplied

Polymorphisms in the apolipoprotein B-100 gene: association with plasma lipid concentration and coronary artery disease.

BACKGROUND: The aim of this study was to investigate the association of apolipoprotein B gene polymorphisms with coronary artery disease and lipid levels in Indians. METHODS AND RESULTS: One hundred patients of angiographically proven atherosclerotic coronary artery disease and one hundred age- and sex-matched control subjects (treadmill negative) were included in the study. Serum lipids including cholesterol, triglycerides, high-density lipoprotein, low-density lipoprotein, very low-density lipoprotein, and apolipoprotein B were analyzed. Genomic DNA was extracted and the apolipoprotein B 3' hypervariable region amplified by polymerase chain reaction. Regions carrying Xba1, EcoR1, and Msp1 restriction sites present in the apolipoprotein B gene were amplified and digested separately by the respective enzymes. Restriction fragment length polymorphism analysis showed that EcoR1 with the R+/R+ genotype was significantly more common in patients with coronary artery disease. Overall, the genotypes EcoR1+/+, Msp1+/+, Xba1+/+ and Eco R1+/+ Msp1+/-, Xba1-/- were significantly more common in patients as compared to controls (p<0.05). When gene polymorphisms were compared with lipid abnormalities, the genotypes EcoR1+/+, Xba1-/-, and Msp1+/+ were more frequent in patients with elevated apolipoprotein B and very low-density lipoprotein levels. On the other hand, these genotypes were less common in patients with increased total cholesterol and low-density lipoprotein levels. When we studied the individual alleles of the variable number of tandem repeats region, we observed that allele 34 was significantly increased in patients with coronary artery disease as compared to controls. Allele 36 was present with a frequency of 1% in controls while it was totally absent in patients. CONCLUSIONS: This study identifies the apolipoprotein B gene polymorphism associated with coronary artery disease. An association between apolipoprotein B gene polymorphisms and elevated apolipoprotein B and very low-density lipoprotein levels was observed. However, there was no positive association with other elevated lipid levels in North Indians from Uttar Pradesh.

Apolipoprotein B-100↗