ABSTRACT
We report the case of a man in his late 30s who presented with a history of breathlessness and cough with haemoptysis. Complete blood counts revealed pancytopenia. High-resolution CT showed diffuse bilateral ground glass opacities. Sequential bronchoalveolar lavage confirmed alveolar haemorrhage. Bone marrow aspiration showed vacuoles in erythroid and myeloid precursor cells. The genome was sequenced, and the UBA1 gene revealed a c.121 A>G mutation (p.Met41Val), confirming vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome. The patient was managed with high-dose prednisolone pulse therapy. He improved with the complete resolution of the alveolar haemorrhage and an improvement in lung function and cytopenias.
Subject(s)
Hemoptysis , Hemorrhage , Myelodysplastic Syndromes , Skin Diseases, Genetic , Male , Humans , Hemorrhage/etiology , Hemoptysis/etiology , Cough , Dyspnea/etiology , MutationABSTRACT
OBJECTIVES: To study the clinical and demographic profile of HIV/AIDS patients diagnosed at a tertiary care centre. METHODS: The study was conducted on a group of 1141 patients suspected of having HIV/AIDS on clinical grounds. Screening was done using different Elisa's as advised by NACO and those confirmed as HIV positive were studied for their clinical spectrum and different demographic parameters. RESULTS: Out of 1141 patients tested, 26 proved to have HIV 1 infection with no case of HIV 2 detected. Mean age of presentation was 40.04 +/- 7 years, main age group affected 31-40 years and a male: female ratio of 4.2:1 was observed. More than 42% were non Kashmiris with armed forces outnumbering all other occupational classes. Heterosexual transmission was the commonest with married out numbering unmarried. Fever, asthenia and weight loss were the predominant symptoms and pulmonary tuberculosis and oropharnygeal candidiasis commonest opportunistic infections. CONCLUSION: The clinical and demographic profile of HIV/AIDS patients in Kashmir is largely similar to the rest of India. Kashmir no longer stands immune to the menace of HIV/AIDS. With increasing globalization, frequent travel and change in social values the state is likely to witness an alarming rise in new cases unless a multipronged approach is undertaken to control the spread.
