Natural killer (NK) cell activity and antibody dependent cell-mediated cytotoxicity (ADCC) was measured in 62 untreated cervical carcinoma patients and 25 normal healthy women, using a short-term chromium release assay. A significant reduction in NK and ADCC activity was observed in disseminated disease than in localized disease, when compared with normal donors. The majority of the patients received radiotherapy and both NK and ADCC activity recovered after therapy. Furthermore, interferon-alpha was demonstrated to augment NK activity of peripheral blood mononuclear cells from healthy donors as well as patients. Also large granular lymphocytes separated on Percoll density gradient were the same in number in both the populations studied, although in cervical cancer there seemed to be a defect in killing activity.

In a cohort of 40 consecutive patients with dystrophinopathy, 29 (72.5%) showed dystrophin gene deletions. Five (17.2%) of these deletions had two non-contiguous deletions involving proximal and central hotspot regions i.e. double deletions. Patients with double deletions tended to have superior functional grading than those with single or no deletion. Double deletions within the dystrophin gene form an interesting feature of this cohort of Indian patients. Sporadic cases amounted to 75% (30/40). Deletions in the sporadic Duchenne muscular dystrophy patients were localized to the central hotspot region. The proximal hotspot mutations were seen exclusively in the families with affected siblings. Clinical course of affected siblings was largely concordant, except for one family. One family with intrafamilial phenotypic variability is reported. The three male cousins in this family had phenotypes varying from Duchenne muscular dystrophy, Becker's muscular dystrophy to cramp myalgia.

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