ABSTRACT
BACKGROUND: Chronic myeloid leukemia (CML) is a clonal myeloproliferative expansion of primitive hematopoietic progenitor cells. MATERIALS AND METHODS: In the present study, CML samples were collected from various hospitals in Amritsar, Jalandhar and Ludhiana. RESULTS: Chromosomal alterations seen in peripheral blood lymphocytes of these treated and untreated cases of CML were satellite associations, double minutes, random loss, gain of C group chromosomes and presence of marker chromosome. No aberrations were observed in control samples. Karyotypic abnormalities have also been noted in the Ph-negative cells of some patients in disease remission. CONCLUSION: This is a novel phenomenon whose prognostic implications require thorough and systematic evaluation.
Subject(s)
Child , Female , Hematopoietic Stem Cells , Hospitals , Humans , India , Karyotyping/methods , Leukemia, Myeloid, Chronic-Phase/genetics , Male , Leukemia, Myeloid, Chronic-Phase/drug therapy , Leukemia, Myeloid, Chronic-Phase/therapy , Philadelphia Chromosome , Piperazines/therapeutic use , Pyrimidines/therapeutic useABSTRACT
Pyknodysostosis is a rare autosomal recessive osteosclerosing skeletal disorder caused by mutations in the CTSK gene situated at 1q21 that codes for cathepsin K - a lysosomal cysteine protease. Mutations in this gene affect the metabolism of skeletal system. This causes problems in bone resorption and remodelling and craniofacial abnormalities. In this article we report a case of 12 year old female from Punjab with pyknodysostosis having hepatosplenomegaly and simian crease.
Subject(s)
Abnormalities, Multiple/diagnosis , Cathepsins/genetics , Child , Craniofacial Dysostosis/complications , Female , Follow-Up Studies , Hand Deformities, Congenital/complications , Hepatomegaly/complications , Humans , Risk Assessment , Splenomegaly/complicationsABSTRACT
It is a well known fact that the sex can be determined from the pulp tissue in living as well as dead, but up to what postmortem interval it can be determined accurately is still a matter of controversy amongst different authors. An attempt has been made in this regard, keeping in view the effect of environment i.e. Role of temperature and humidity on pulp tissue after the extraction of teeth.