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1.
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2014; 24 (4): 285-287
em Inglês | IMEMR | ID: emr-142092

RESUMO

Congenital amegakaryocytic thrombocytopenia [CAMT] is a rare, autosomal recessive disorder induced by mutations of the gene coding for thrombopoietin [TPO] receptor [c-MPL] despite high levels of serum TPO. Patients initially present with isolated thrombocytopenia that subsequently progresses into pancytopenia. Although the mechanisms leading to aplasia are unknown, the age of onset has been reported to depend on the severity of the c-MPL functional defect. The primary treatment for CAMT is bone marrow transplantation. This report describes a newborn girl who presented to us with symptoms of sepsis but septic profile came negative except thrombocytopenia. Bone marrow biopsy was done for thrombocytopenia which revealed amegakaryocytic thrombocytopenia. She was given prednisolone.


Assuntos
Humanos , Feminino , Mutação , Receptores de Trombopoetina , Pancitopenia , Transplante de Medula Óssea
2.
Mother and Child. 2000; 38 (4): 126-129
em Inglês | IMEMR | ID: emr-54767

RESUMO

A study was conducted in of Sir Ganga Ram Hospital, Lahore to find out the prevalence and presentations of neonatal necrotizing enterocolitis [NEC]. The study population comprised of 786 consecutive newborns admitted in Neonatal Nursery during the study period of eight months I.e. 1st January 1999 to 31st August 1999. The neonates were screened for birth weight, gestational age, low Apgar scores, and eternal non-breast milk feeding. Seventy five neonates were labeled as suspected cases of NEC, representing 9.5 percent of all admissions. Low birth weight [defined as less than 2000 grams] and lack of breast- feeding were most commonly associated with NEC. Abdominal distension was the commonest presentation seen in 75 percent case


Assuntos
Humanos , Recém-Nascido , Doenças do Recém-Nascido , Enterocolite Necrosante/diagnóstico , Prevalência
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