Genetic study in congenital heart defects

Background: Congenital heart diseases (CHD) are relatively common with a prevalence ranging from 3.7 to 17.5 per 1000 live births. Little is known about genetic link with respect to congenital heart disease. Iroquoise (Irx) homeobox genes have been widely studied and their expression in both developing and adult heart. Author tried to study the role of irx4 and irx5 genes in structural congenital heart disease, keeping the focus on study reported by Cheng Z et al.Methods: Author studied reported mutation site sequences in 25 various congenital heart disease patients and control healthy relatives of patients. It is a unique study and there has not been such a study reported in literature till date. Besides comparison with healthy related controls, author took cardiac tissue biopsy in patients while doing corrective cardiac surgery. However, blood samples were taken from controls due to ease of feasibility.Results: Although, there were no sequence variations in the studied exon regions, but author got a base pair sequence change at 6 bp intron region, which is near the exon splice site in irx4 gene. Besides two ASD patient’s male children (one child each) had ASD prompting us to believe some role of sex linkage. However later needs pedigree analysis and sex chromosome studies for further analysis.Conclusions: Gene sequence in the Kashmiri population is unique. There is possibility of role of irx genes in CHD. ASD might have sex linkage in some.

Lung contusion: a clinico-pathological entity with unpredictable clinical course

Lung contusion is an entity involving injury to the alveolar capillaries, without any tear or cut in the lung tissue. This results in accumulation of blood and other fluids within the lung tissue. The excess fluid interferes with gas exchange leading to hypoxia. The pathophysiology of lung contusion includes ventilation/perfusion mismatching, increased intrapulmonary shunting, increased lung water, segmental lung damage, and a loss of compliance. Clinically, patient's presents with hypoxiemia, hypercarbia and increase in laboured breathing. Patients are treated with supplemental oxygen and mechanical ventilation whenever indicated. Treatment is primarily supportive. Computed tomography [CT] is very sensitive for diagnosing pulmonary contusion. Pulmonary contusion occurs in 25-35% of all blunt chest traumas

diagnostic efficacy of adenosine deaminase in tubercular effusion

This study aims to evaluate the diagnostic efficacy of adenosine deaminase in tubercular effusions. This study was conducted at the Department of General Medicine and Cardiovascular and Thoracic Surgery, SKIMS, for a period of two years between November 2008 and November 2010. A total of 57 patients presenting with pleural effusions during the two-year study period, who presented with clinical manifestations suggestive of tuberculosis [i.e., the presence of productive cough, low-grade fever, night sweats, weight loss, and chest pain, especially if these symptoms last >/= 4 weeks] were included in the study. If the patients presented with less than two of these symptoms, and especially if the clinical manifestations were of <4 weeks duration, they were excluded from the study. The mean adenosine deaminase activity level in all the 57 patients was 109 U/L while the mean adenosine deaminase activity levels in pleural TB patients was 80 U/L, and 64 U/L in the controls [p=0.381]. Considering 40 U/L as the cut off, the results were positive in 35 out of 39 tuberculosis patients and 9 out of 18 controls. The sensitivity of adenosine deaminase for tubercular effusions worked out to be 90%, with only 50% specificity. This study suggests that the estimation of adenosine deaminase activity in pleural fluid is a rapid diagnostic tool for differentiation of tubercular and non tubercular-effusions. The sensitivity and specificity of adenosine deaminase for tubercular effusions in this study was 90% and 50% respectively.

Ureteric nephrogenic adenoma: A report of two cases.

Nephrogenic adenoma is a rare, benign, metaplastic lesion predominantly seen in urinary bladder, which occurs even more rarely in the ureters. We report two such cases, arising in the ureter. Both patients were young adult males. Histology of both cases was similar, showing tubules lined by columnar cells with hobnailing of nuclei. Immunohistochemically, both cases resembled their counterparts in urinary bladder. These lesions are important to recognize, since they can easily be confused with several malignancies.