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Biomedical subjects

Sameer Bakhshi

Publications and source records attributed to Sameer Bakhshi.

27 records · Page 2Linked to original sources

Thrombocytopenic purpura as a presenting manifestation of tubercular lymphadenitis.

A 11-year-old girl presented with thrombocytopenic purpura along with cervical lymphadenopathy. There was no hepatosplenomegaly; no evidence of microangiopathy; bone marrow examination was normal. Acid fast bacilli were seen in fine needle aspiration cytology of the lymph node. A diagnosis of tubercular lymphadenitis in association with immune thrombocytopenia was made, and the platelet count recovered with antitubercular therapy. This report illustrates immune thrombocytopenia as a rare manifestation of childhood tuberculosis; the authors also discuss other causes of thrombocytopenia in childhood tuberculosis.

Child↗

t(5;9)(q11;q34): a novel familial translocation involving Abelson oncogene and association with hypereosinophilia.

A 6-year-old girl with hypereosinophilia was found to have a familial constitutional translocation t(5;9)(q11;q34). Flow cytometry and gene rearrangement studies did not show any clonal T-helper cell proliferation. Presence of cryptic Philadelphia translocation was ruled out by reverse transcription polymerase chain reaction. Abelson oncogene translocation on chromosome 5 was confirmed by fluorescent in situ hybridization. This is the first example of a familial translocation involving the abelson oncogene and association with hypereosinophilia. The authors discuss a novel mechanism of hypereosinophilia involving the hybrid product of the abelson oncogene with an unknown partner gene on chromosome 5 (probably granzyme-A).

Child↗

Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome.

A 3-year-old child with microcephaly, facial dysmorphism, growth retardation, and developmental delay was diagnosed with medulloblastoma. Craniospinal irradiation resulted in severe radiation-induced dermatitis and gastroesophagitis, unresponsive to further medical therapy. Colony survival assay on the patient's transformed lymphocytes revealed a high degree of radiosensitivity ex vivo. The presence of radiation sensitivity, both clinically and ex vivo, in association with microcephaly and growth retardation, prompted a diagnostic workup for Nijmegen breakage syndrome. The patient was confirmed to have a compound heterozygote genotype for the common founder mutation of NBS1 675del5 in exon 6, and 1142delC in exon 10. Because irradiation is an important component of therapy for brain tumors, caution should be exercised in cancer patients with associated microcephaly and growth retardation, as they may turn out to have the rare diagnosis of Nijmegen breakage syndrome.

Cerebellar Neoplasms↗

Diagnosis and treatment of disseminated intravascular coagulation.

Disseminated intravascular coagulation (DIC) is a complex clinical syndrome with activation of the procoagulant and fibrinolytic systems along with inhibitor consumption. We discuss regarding the controversies in diagnosis and management of DIC. Bleeding is a more common manifestation of DIC but most of the morbidity and mortality of DIC is due to microvascular thrombosis. Routinely performed tests for DIC such as platelet count and prothrombin time may be normal in chronic DIC. There is no single test that would diagnose DIC, however, estimation of D-dimer appears to be the most sensitive and specific test. Therapy of DIC aims at treating the primary cause. Fresh frozen plasma and platelet concentrates are recommended only in bleeding patients and have the potential risk of adding procoagulant material to the already activated procoagulant system. Role of heparin and antithrombin in patients with sepsis and DIC is discussed.

Disseminated Intravascular Coagulation↗

Acute myeloid leukemia presenting simultaneously in two siblings.

The rare occurrence of acute myeloid leukemia simultaneously in two siblings, 3-year male and 1-year female, in the absence of any known predisposing condition is reported. We speculate that an initial in-utero genetic alteration followed by subsequent environmental exposure to some unknown toxin may have resulted in leukemogenesis.

Child, Preschool↗

Infantile fibrosarcoma associated with urticaria pigmentosa.

The authors report the case of an infant with urticaria pigmentosa who developed infantile fibrosarcoma. The tumor was successfully resected but the skin lesions have persisted. This is the first report of a fibrosarcoma in association with urticaria pigmentosa. A brief review is presented of the available medical literature on associations of solid tumors with mastocytosis.

Fibrosarcoma↗

Atypical pyoderma gangrenosum as a manifestation of childhood acute lymphoblastic leukemia.

Pyoderma gangrenosum is a neutrophilic dermatosis that may occur idiopathically or in association with various systemic diseases and malignancy. Although the association of this entity with myeloid malignancies is well known, its association with lymphoid malignancy is extremely rare. We describe atypical pyoderma gangrenosum in association with acute lymphoblastic leukemia in a 2-year-old child, an occurrence not reported before.

Anti-Bacterial Agents↗