Two novel mutations in exon 3 and 4 of low density lipoprotein [LDL] receptor gene in patients with heterozygous familial hypercholesterolemia

To determine the common mutation of low density lipoprotein receptor in hypercholesterolemja patients requiring screening for heterozygous familial hypercholesterolemia [HeFH] in Karachi. Case-series. Dr. Ziauddin Hospital Laboratory and Dr. Rubina Ghani's Pathological and Molecular Laboratories, Karachi, for the PCR bench work from June 2008 to October 2009. All the patients selected for this study were from Dr. Ziauddin Hospital and National Institute of Cardiovascular Diseases. All the patients having high total cholesterol and LDL-cholesterol were included in this study with premature coronary artery diseases or a family history of hypercholesterolemia. Exclusion criteria included Diabetes mellitus, hypertension, renal disease, hypothyroidism and steroid therapy. After lipid profile with overnight fasting, DMA was extracted from whole blood collected in EDTA [ethylenediamine tetra acetic acid] tube and multiplex PCR [polymerase chain reaction] using forward and reverse primers of exons 3, 4, 9 and 14 of base pairs 162, 431, 550 and 496 respectively. Out of total of 120 hypercholesterolemia cases, 42 patients were classical cases of HeFH [heterozygous familial hypercholesterolemia] with xanthomas, xanthelasmas and LDL-C > 160 mg/dl. The total cholesterol [260 +/- 57 mg/dL] and LDL-C [192 +/- 39 mg/dL] of cases was significantly high as compared to, controls having total cholesterol [184 +/- 27 mg/dL] and LDL-C [105 +/- 22 mg/dL], p > 0.001. Two novel point mutations were noted in exon 3 and exon 4. The other 78 cases were probable with raised LDL-C [low density lipoprotein cholesterol] and family history of premature coronary heart diseases. The frequency of HeFH was 35% classical and 65% probable cases out of total 120 hypercholesterolemia patients from two tertiary care hospitals in Karachi. The point mutation on exon 3 and exon 4 of LDLR gene was the most common. PCR is useful for the detection of large re-arrangements in the LDL-receptor gene and is a rapid and reliable method for diagnosis of familial hypercholesterolemia

Carotid intima-media thickness correlation with lipid profile in patients with familial hypercholesterolemia versus controls

To determine the variations in carotid intima-media thickness [CIMT] in familial hypercholesterolemia [FH] patients and its use as predictive marker for premature cardiovascular diseases. National Institute of Cardiovascular Diseases and Dr. Ziauddin Hospital, Karachi, from June 2008 to October 2009. Familial hypercholesterolemia was clinically diagnosed by premature coronary diseases, xanthomas, arcus cornealis and family history of premature coronary heart diseases. Controls were age matched normal individuals without hypercholesterolemia. Their lipid profile was tested after overnight fasting. CIMT was measured in mm using B-mode ultrasonography using linear probe. Student t-test was applied to compare mean CIMT of cases and the control. The mean CIMT values of the FH cases were correlated with LDL using Pearson's correlation test. Forty cases with hypercholesterolemia gave consent to participate in the study. These patients had total cholesterol >200 mg/dL and LDL >/= 160 mg/dL as compared to twenty controls of similar age with total cholesterol

survey of multiple prescriptions dispensed in Saudi Arabia

A study of out-patient prescriptions in King Fahad Hospital, Al-Baha, Saudi Arabia was undertaken. Prescribing patterns of 200 doctors were surveyed. For each doctor ten out-patient prescriptions were randomly selected for analysis during month of January 2000. The prescriptions were coded and analysed. Multivitamins and antibiotics were the drugs most frequently prescribed: a finding that suggests either a high degree of malnutrition and infectious disease or misuse of those drugs. Other commonly prescribed drugs are also discussed