Biomedical subjects
G Garewal
Publications and source records attributed to G Garewal.
Acute myeloid leukemia in a hemophilic--a serendipitous coexistence.
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Bone marrow involvement in embryonal rhabdomyosarcoma.
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Establishment of prenatal diagnosis for beta-thalassaemia: a step towards its control in a developing country.
Beta-thalassaemia constitutes a major health burden on the limited health resources of India and prenatal diagnosis is seen as an important preventive measure to reduce the burden of the disease. Prenatal diagnosis has been offered to 99 women in 112 pregnancies by fetal DNA analysis, using a PCR-based Amplification Refractory Mutation System (ARMS) for the common and uncommon Indian mutations. Restriction fragment length polymorphism (RFLP) for the beta-globin gene was used when the mutation remained unidentified in one of the parents or to complement the ARMS result. In 53 cases the fetus tested had beta-thalassaemia trait (betaTT) (47.3%), 22 were normal (19.6%) and 31 had thalassaemia major (27.6%). In five cases (4.5%), a definitive report could not be given due to maternal contamination. In one case (0.9%), there was a misdiagnosis. Pitfalls encountered in the diagnosis were maternal contamination and occasional non-amplification of the primers. Having established a regional centre for the prenatal diagnosis for thalassaemia, the screening programmes will be enlarged both to identify carriers and prevent the birth of further homozygous children, even during the first pregnancy.
Accelerated phase at initial presentation: an uncommon occurrence in Chédiak-Higashi syndrome.
The authors describe an Indian child, who presented in the accelerated phase of the Chédiak-Higashi syndrome. The disease usually presents in early childhood with recurrent skin and mucosal infections. This patient had subtle pigmentary abnormalities and no family history of the disease, which made the clinical diagnosis difficult. The cytopenias, hepatosplenomegaly, lymphohistiocytic infiltrate in the bone marrow, and the characteristic granules in the leucocytes clinched the diagnosis. This case underscores the importance of a bone marrow examination in patients with unusual presentations of rare disorders.
The psuedo-Chediak-Higashi anomaly: an unusual staining pattern in an Indian child with acute myeloid leukemia.
The authors describe the psuedo-Chediak-Higashi anomaly in a 12-year-old boy with acute myeloid leukemia (AML-M2). There were large purple granules in the blasts, promyelocytes, and myelocytes. Instead of the previously described patterns, the authors observed a unique rim pattern staining of the granules in both the May-Grunwald-Giemsa and the myeloperoxidase stains. Moreover, many of the granules had central vacuoles with strong myeloperoxidase positivity at the periphery. The bone marrow had a much higher positivity for these mega-granules as compared to the peripheral blood. On remission, these granules were no longer seen. To the best of the authors' knowledge, this pattern of staining has not been previously reported in the literature.
Childhood myelofibrosis: transformation to acute lymphoblastic leukemia.
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Acute febrile neutrophilic dermatosis (Sweet's syndrome) in myelodysplastic syndrome.
This is the first report of the rare association of acute febrile neutrophilic dermatosis (Sweet's syndrome) and myelodysplastic syndrome (MDS) in a child. The skin lesions showed a dramatic response to colchicine.
Haematological abnormalities in patients of sarcoidosis.
OBJECTIVE: To study the presence and pattern of haematological abnormalities in patients with sarcoidosis in India. METHODS: Haematological investigations including complete blood cell counts, ESR and peripheral smear examination were carried out in 30 consecutive freshly diagnosed cases of sarcoidosis and compared with equal number of age and sex matched healthy controls. Coagulation parameters such as prothrombin time (PT), prothrombin index (PTI), partial thromboplastin time (PTTK) and fibrinogen levels were also studied. RESULTS: There were 15 men (mean age 40.4 +/- 10.15 years) and equal number of women (mean age 38.6 +/- 12.14 years) in the study group. Haematological abnormalities were present in 11 (36.66%) of the patients. Four cases (13.33%, all females) were found to have anaemia and in three of them no other cause for this was evident. Lymphopenia (lymphocyte count <1500/cu mm) was present in eight (26.66%) patients and three (10%) controls (P<0.05). Only one patient (3.3%) had leucopenia. Number of subjects with raised ESR and the mean ESR was higher in the study group as compared to the controls. No coagulation abnormalities were encountered. CONCLUSIONS: Different haematological manifestations in total are common in Indian patients, leucopenia is relatively rare while anaemia, lymphopenia and raised ESR are common
Acute erythroleukemia (AML-M6)--a study of clinicohematological, morphological and dysplastic features in 10 cases.
Acute erythroleukemia is a relatively rare form of acute myelogenous leukemia. In the present study we analysed ten cases of acute erythroleukemia. All the patients were anemic and nine were thrombocytopenic at the time of diagnosis. Peripheral blood showed blasts in nine cases. Dyserythropoiesis was seen in all the cases whereas dysmegakaryopoiesis was seen in five cases. Dysplasia in the granulocytic series was seen in five cases. Based on the overall features this study concludes that acute erythroleukemia is associated with dysplasia of variable degree.
Hairy cell leukaemia with T-cell marker.
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