Pseudo hypoaldosteronism type 1B due to novel deletion mutation in SCNN1A gene

Pseudo hypoaldosteronism type 1B (PHA1B) is a systemic form of salt wasting. Children present after the first week of life with typical symptoms of an adrenal crisis. PHA1B is caused by autosomal recessive homozygous mutations in genes encoding epithelial sodium channels (ENaC) subunits ?, ? and ?. ENaC are widespread and present in renal tubules, airways, colon, sweat and salivary glands. Electrolyte imbalance is significant with severe hyponatremia, hyperkalemia and metabolic acidosis. In early life until approximately one year of age electrolytes remain unstable despite active management but then gradually improve. The mainstay of treatment is high dose salt replacement, sodium bicarbonate and sodium polystyrene therapy. The adequate treatment and monitoring can result in normal physical and psychomotor development. We present a case of PHA1B with severe intractable electrolyte imbalances in neonatal period. The genetic sequence revealed a novel homozygous deletion mutation in exon 4 of the SCNN1A gene (c.942delC, p.N315Tfs*16).

Frequency of severe carotid artery stenosis in diabetic patients undergoing coronary artery bypass grafting

Background: Prevalence of carotid artery stenosis is high in patients with coronary artery disease in the western countries as well as in some Asian nations and this increases the risk of stroke in the coronary artery disease patients while undergoing coronary artery bypass grafting [CABG]

Objective: The objective of this study was to determine the frequency of severe carotid artery stenosis in diabetic patients undergoing coronary artery bypass grafting

Patients and Methods: It was a cross-sectional study, conducted in Cardiology department, Punjab Institute of Cardiology, Lahore, from 15[th] December 2006 to 15[th] June 2007. One hundred consecutive diabetic patients undergoing CABG were included in the study. They were diagnosed diabetic on history [previously diagnosed and taking medicine for diabetes] and new diabetic patients diagnosed on laboratory investigations by using criteria; [fasting plasma glucose level 126 mg/dl or higher on more than one occasion]. Type of diabetes, physical examination [carotid bruit] and coronary angiogram findings were noted. Carotid Doppler scan was done in all study population and the severe carotid artery stenosis was diagnosed with the help of Doppler diagnostic criteria that was peak systolic velocity of > 2.3 ml sec of ICA or peak diastolic velocity of >0.75 m/sec of ICA or ICA/CCA systolic ratio of >3 and confirmed by two cardiologists. Data was entered on the proforma, and analyzed in SPSS version 11

Results: The mean age of study subjects was 59.5 +/- 8.4 years, total of 100 patients were included in study. Severe carotid artery stenosis i.e. > 70% stenosis in the carotid arteries was diagnosed in 7% of the study population which were at higher risk for the perioperative neurological complications. Out of these 7 patients, > 70% right carotid stenosis was seen in 2 patients while the remaining 5 patients showed > 70% stenosis of the left carotid artery. We also observed that 7 patients who were diagnosed with severe carotid artery stenosis also had significant associated LMS disease. Out of these, 4 patients [57.1 %] had severe LMS while 2 patients [28.6 %] had moderate LMS disease

Conclusion: A high incidence of severe carotid artery disease was found by using Doppler ultrasound in diabetic patients with TVD or LMCA disease. There was significant association of severe carotid artery stenosis in patients who had severe LMCA disease. Carotid doppler can be used as a screening test to rule out significant carotid artery disease

Metabolic syndrome in patients with ischemic heart disease

To determine the frequency of metabolic syndrome in patients with Ischemic Heart Disease [IHD]. Cross-sectional, descriptive study. Cardiology Department of Punjab Institute of Cardiology, Lahore, from June 2006 to June 2007. A total of 100 subjects with ischemic heart disease, fulfilling the inclusion criteria, were enrolled in the study. Demographic data [age and gender] and the 5 component conditions of the metabolic syndrome were noted. Subjects were physically assessed for the abdominal obesity, based on waist circumference. Fasting blood samples for glucose and lipid profile in first 24 hours after acute coronary insult were drawn and tested in central laboratory. Variables were processed for descriptive statistics. In this study population, 68% were male and 32% were female with mean age of 52 +/- 13.6 years in men and 56 +/- 12.5 years in women. Frequency of metabolic syndrome was 32% in men and 28% in women. It increased with age. The highest rate of metabolic syndrome was in men diagnosed as STEMI [odds ratio: 3.39, 95% Cl=1.36-8.41]. Frequency of metabolic syndrome was high among the patients with IHD. It supports the potential for preventive efforts in persons with high-risk of IHD