Cutaneous mastocytosis. Getting beneath the skin of the issue: a case report

An eleven month old girl presented with chronic urticaria since three months of age. There was a generalised hyperpigmented maculo-papular rash. Darier sign was positive. The skin biopsy showed plenty of spindle shaped mast cells with eosinophilic cytoplasm infiltrating the dermis and the appendiceal structures. The diagnosis of cutaneous mastocytosis (urticaria pigmentosa) was made. The child received symptomatic relief with chronic oral hydroxyzine and ranitidine therapy. Automated epinephrine self-injectors usually prescribed in this condition for self-management of anaphylactic episodes were not available. Intramuscular administration of (1:1000) diluted adrenaline via a disposable tuberculin syringe was taught to the mother. A medical bracelet containing her diagnosis and instructions in emergency was custom-made for her

Clinical profile and molecular diagnosis in patients of facioscapulohumeral dystrophy from Indian subcontinent

Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscular dystrophy. We retrospectively studied three families (two Indian, one Nepalese) with 12 affected members (male:female-7:5). Mean age at onset of weakness was 17.63 + 5.48 years. Patients were classified according to muscle groups affected (F-face, S-scapula, H-humeral, PG-pelvic girdle, P-peroneal, A-loss of independent ambulation): FSH-A (2), four FSH (4), SH (3), FSH-PG (2) and one: F (1). Progression of weakness was classified as F>S>P>PG in eight cases, S> F>P in one, static in three. Eleven patients had electromyographic findings suggestive of myopathy and one had features of neurogenic involvement. Molecular diagnosis was done by southern blotting using probe p13E-ni11 after digestion of genomic DNA with EcoRI and/or EcoRI/BlnI for twelve patients and three unaffected relatives. No EcoRI fragment smaller than 35 Kb was seen in unaffected subjects. Size of EcoRI fragment varied between 17 kb to 27 kb in affected subjects and was constant for affected members of the same family. Molecular diagnosis by southern blotting has helped to provide genetic counseling for the families

Chronic myeloid leukemia in case of Klinefelter syndrome

Klinefelter syndrome (KS) is a sex chromosome disorder and has been reported to be associated with increased risk for malignancies. We report a 22-year-old male patient who was diagnosed to have chronic myeloid leukemia in chronic phase. Bone marrow cytogenetic examination revealed karyotype 47, XXY, t (9; 22)(q34, q11) suggestive of KS with presence of Philadelphia chromosome. The patient was treated with oral imatinib mesylate (400 mg/day). Complete hematological response was achieved after 2 months of therapy. The bcr-abl/abl transcript percentage measured from peripheral blood at baseline, 1 and 2 years after imatinib were 97%, 1.99%, 0.007%, respectively. He remains in complete hematological and major molecular remission after 2 years of continued imatinib therapy

Lipoid proteinosis: Histopathological characterization of early papulovesicular lesions

The success of parallel computing in solving real-life computationally-intensive problems relies on their efficient mapping and execution on large-scale multiprocessor architectures. Many important applications are both unstructured and dynamic in nature, making their efficient parallel implementation a daunting task. This paper presents the parallelization of a dynamic unstructured mesh adaptation algorithm using three popular programming paradigms on three leading supercomputers. We examine an MPI message-passing implementation on the Cray T3E and the SGI Origin2000, a shared-memory implementation using cache coherent nonuniform memory access (CC-NUMA) of the Origin2000, and a multithreaded version on the newly-released Tera Multithreaded Architecture (MTA). We compare several critical factors of this parallel code development, including runtime, scalability, programmability, and memory overhead. Our overall results demonstrate that multithreaded systems offer tremendous potential fo..