Apollo Hospital, Indraprastha

About: Apollo Hospital, Indraprastha is a healthcare organization based out in New Delhi, India. It is known for research contribution in the topics: Health care & Population. The organization has 654 authors who have published 794 publications receiving 9139 citations.

An unusual clonal cytogenetic abnormality with t(15;17)(p11;q21) in a patient with severe aplastic anemia.

Abstract: Aplastic anemia is a rare, serious disease characterized by pancytopenia and hypocellular bone marrow. We present a case of severe aplastic anemia with a novel cytogenetic abnormality involving a balanced translocation between chromosomes 15p11 and 17q21. The breakpoint in chromosome 17q21 was similar to that involved in acute promyelocytic leukemia. A 68-yearold male presented with complaints of progressively increasing weakness and low-grade fever for 30 days. There was no bleeding from any site. Past medical history and family history were non-contributory. Clinical evaluation revealed palor with no lymphadenopathy or organomegaly. Hematological workup revealed pancytopenia with hemoglobin 6.8 g/dl, total leukocyte count 1.2 × 109/l, absolute neutrophil count 0.24 × 109/l, platelet count 26 × 109/l, and peripheral blood differential count with neutrophils 20% and lymphocytes 80%. Bone marrow biopsy revealed hypocellular marrow with overall cellularity less than 5%. There was no marrow dysplasia, tumor infi ltration, or myelofi brosis. Investigations for viral infections like hepatitis B virus, hepatitis C virus, human immunodefi ciency virus, and parvovirus B19 were negative. Chromosomal analysis revealed a male karyotype with the presence of translocation between chromosome 15 and 17 [46 XY, t(15;17)(p11;q21)] in all metaphases, detectable at the level of banding resolution (ISCN) 400. Paroxysmal nocturnal hemoglobinuria clone was ruled out by fl owcytometry on peripheral blood granulocytes. Prothrombin time and activated partial thromboplastin time were normal with no evidence of coagulopathy. He was given supportive treatment with packed red blood cell transfusion and started on oral cyclosporine 100 mg twice daily. Most cases of aplastic anemia are acquired and do not have any cytogenetic abnormalities though few patients have been described with these abnormalities at presentation ranging from 4% to 12%.[1-4] The relevance of cytogenetic abnormalities to the pathophysiology of AA is unknown in contrast to diseases like myelodysplastic syndrome and acute leukemias where diagnosis and treatment rests heavily on cytogenetic abnormalities. Both numerical and structural abnormalities have been reported in aplastic anemia. Numerical abnormalities include trisomies of chromosome 6, 7, 8, 13, 14 and 15 and monosomy 7 and 9 and structural abnormalities include t(3;11) and t(4;6).[1,2,4] Overall, the most common chromosomal abnormalities reported are trisomies of 6 and 8 and loss of chromosome 7.[1,4] Although unusual cytogenetics have been reported in patients with AA[5,6] including t(9;22) but t(15;17) has not been reported. The response to immunosuppressive therapy, durability of response, and progression to later clonal disorders in these patients did not appear to be different from patients with a normal karyotype though they might be at higher risk of progressing to myelodysplastic syndrome or acute myeloid leukemia.[2,4]

Importance of Mallampati score as an independent predictor of obstructive sleep apnea

Abstract: Introduction The Mallampatti Scoring System (MSS) was initially developed as a classification system of oro-pharyngeal opening and has been used to identify patients with potentially difficult intubation We conducted this prospective study to assess the utility of MSS in diagnosing Obstructive Sleep Apnoea (OSA) and to predict the severity of OSA Materials and Methods This prospective study was carried out at a tertiary care sleep referral centre in Northern India A total of 175 consecutive patients were enrolled and their symptoms and examination findings were noted A special note was taken of their Mallampatti Score Severity After overnight polysomnography, their Apnea-Hypopnoea Index (AHI) was correlated with the MSS Results The average age of the study population was 47 ± 62 years Average BMI was calculated to be 312 ± 84 kg/m2 and overall AHI was 42 ± 10 MSS was an independent predictor for presence of OSA but there was no significant correlation between severity of MSS and severity of OSA On average, for every 1-point increase in the Mallampati score, the odds of having Obstructive Sleep Apnea increased more than 2-fold (odds ratio [per 1-point increase] = 25; p Conclusion MSS is an important predictor for presence and absence of OSA and can be an important screening tool as well as is an important part of pre-test physical examination However, its role in predicting severity of OSA remains doubtful and needs further study