Congenital leukaemia in Down Syndrome--a case report

A 17 days old male infant, who had features of Down Syndrome, presented with fever, refusal to feed and seizures. He had papular, crusted skin lesions, moderate hepatosplenomegaly and a rapid downhill course. Peripheral blood and bone marrow aspirate showed features of acute leukaemia. Congenital Leukaemia is a rare malignancy associated with a very poor prognosis. Paradoxically, many cases of Congenital Leukaemia, especially in infants with Down Syndrome, show spontaneous remission.     

Distinctive Mutation Spectrum of the HBB Gene in an Urban Eastern Indian Population

Hemoglobinopathies such as β-thalassemia (β-thal) and sickle cell anemia (or Hb S [β6(A3)Glu→Val]) impose a major health burden in the Indian population. To determine the frequencies of the HBB gene mutations in eastern Indian populations and to compare with the available data, a comprehensive molecular analysis of the HBB gene was done in the normal Odisha State population. Using polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP), amplification refractory mutation system (ARMS) and DNA sequencing techniques, β-thal and sickle cell anemia mutations were characterized in 267 healthy individuals. Entire HBB gene sequencing showed 63 different mutations including 11 new ones. The predominant mutation HBB: c.9T?>?C was observed at a high frequency (19.57%) in the normal population. In the urban population of Odisha State, India, carrier frequency of hemoglobinopathies was found to be 18.48%, and for β-thal, the carrier rate was 14.13%, which is very high indeed. In the absence of a complete cure by any expensive treatment and drug administration, this information would be helpful for planning a population screening program and establishing prenatal diagnosis of β-thal in order to reduce the burden of such a genetic disease.     

Risk factors for progressive cartilage loss in the knee: a longitudinal magnetic resonance imaging study in forty-three patients

OBJECTIVE: To evaluate the rate of progression of cartilage loss in the knee joint using magnetic resonance imaging (MRI) and to evaluate potential risk factors for more rapid cartilage loss. METHODS: We evaluated baseline and followup MRIs of the knees in 43 patients (minimum time interval of 1 year, mean 1.8 years, range 52-285 weeks). Cartilage loss was graded in the anterior, central, and posterior regions of the medial and lateral knee compartments. Knee joints were also evaluated for other pathology. Data were analyzed using analysis of variance models. RESULTS: Patients who had sustained meniscal tears showed a higher average rate of progression of cartilage loss (22%) than that seen in those who had intact menisci (14.9%) (P 相似文献   

Clinical profile of acute kidney injury in a pediatric intensive care unit from Southern India: A prospective observational study

Background:

Although the term acute renal failure was replaced by acute kidney injury (AKI) recently, there is a paucity of data on the incidence and profile of AKI in critically ill children from the developing world.

Objectives:

The objective of this study is to determine the incidence, etiology, short term outcome and predictors of fatality in critically ill children admitted to the pediatric intensive care unit (PICU) with AKI, aged 1 month to 13 years.

Materials and Methods:

In this prospective observational study, from June 2010 to March 2011, 215 children admitted to the PICU were screened for AKI, defined according to the AKI Network criteria. The patients with AKI were followed-up until discharge/death. Their clinical and biochemical data were recorded.

Results:

The incidence of AKI among 215 patients screened was 54 (25.1%). The common etiologies were infections, [34 (62.9%)], acute glomerulonephritis (7.6%), snake envenomation (5.7%), hemolytic uremic syndrome (3.8%) and congestive cardiac failures (3.8%). Among infections, pneumonia and septicemia constituted 26.5% each, meningoencephalitis accounted for 23.5%, and dengue, scrub typhus, tuberculosis and malaria constituted 9.3% of children with AKI. 27.8% of patients required dialysis. Overall mortality was 46.3%. On logistic regression analysis, requirement of mechanical ventilation was an independent predictor of fatality in AKI.

Conclusions:

Besides the high incidence of AKI in critically ill-children admitted to the PICU (25.1%), the condition was associated with adverse outcomes, including high mortality (46.3%) and need for dialysis (27.8%). Infections dominated the etiological profile. Requirement of mechanical ventilation predicted an adverse outcome in our patient population.     

COMPLEMENTARY NUCLEAR RNA''S OF MURINE SARCOMA-LEUKEMIA VIRUS COMPLEX IN TRANSFORMED CELLS

The high molecular weight RNA (S(20,w) = 69S) of murine sarcomaleukemia virus (MSV-MLV) complex dissociated into 37S subunits when heated to 95 degrees C for 2 minutes. Specific annealing tests revealed that the viral RNA had complementarity with two heterogeneous RNA species from the nuclei of cells (78 A1) transformed by and chronically infected with this virus complex. The two nuclear RNA species that hybridized with the viral RNA had sedimentation constants ranging from 31-36S and 18-22S, respectively. There was no specific annealing between viral RNA and the cytoplasmic RNA of the 78 A1 cells. The detection of the complementary RNA strands of MSV-MLV suggests that this oncogenic virus complex may replicate in a fashion similar to that of the non-oncogenic RNA viruses, but may differ in that the complementary strands are found in the nucleus rather than in the cytoplasm of the transformed cells.