Read more about the article Familial discrete subaortic stenosis.
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Familial discrete subaortic stenosis.

Abstract Discrete subaortic stenosis (DSS) accounts for 8 to 20% of all cases of congenital left ventricular outflow tract obstruction. There have been few scattered reports of left ventricular obstructive…

Continue ReadingFamilial discrete subaortic stenosis.
Read more about the article Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.
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Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.

Abstract Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in one of three genes: PKD1 on chromosome 16 accounts for approximately 85% of cases whereas PKD2 on chromosome…

Continue ReadingGerminal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.
Read more about the article Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1.
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Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1.

Abstract Loss of heterozygosity (LOH) is a molecular phenomenon that denotes the loss of one of the two alleles at a specific locus. It is frequently associated with tumour suppressor…

Continue ReadingLoss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1.
Read more about the article Oxcarbazepine versus carbamazepine treatment and induction of serum lipid abnormalities.
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Oxcarbazepine versus carbamazepine treatment and induction of serum lipid abnormalities.

Abstract Long-term treatment with carbamazepine is associated with many metabolic changes, including elevations in serum cholesterol, high-density lipoprotein, low-density lipoprotein, and triglyceride levels. Oxcarbazepine has been reported to be a…

Continue ReadingOxcarbazepine versus carbamazepine treatment and induction of serum lipid abnormalities.
Read more about the article Identification of a novel beta0-thalassemia mutation, codons 80/81 (-C), in an Iranian family.
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Identification of a novel beta0-thalassemia mutation, codons 80/81 (-C), in an Iranian family.

Abstract

Continue ReadingIdentification of a novel beta0-thalassemia mutation, codons 80/81 (-C), in an Iranian family.
Read more about the article Radial nerve F-waves: normative values with surface recording from the extensor indicis muscle.
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Radial nerve F-waves: normative values with surface recording from the extensor indicis muscle.

Abstract In the present study we set out to obtain normative values for radial nerve F-waves, with surface recording from the extensor indicis muscle.Forty-nine patients with unrelated complaints were tested.…

Continue ReadingRadial nerve F-waves: normative values with surface recording from the extensor indicis muscle.
Read more about the article The Kleine-Levin syndrome. Report of a case and review of the literature.
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The Kleine-Levin syndrome. Report of a case and review of the literature.

Abstract Kleine-Levin syndrome is a rare self-limited disorder which usually affects adolescent males and is characterized by episodic hypersomnia, increased appetite, and behavioral/psychiatric disturbances. Individuals are normal between the attacks.…

Continue ReadingThe Kleine-Levin syndrome. Report of a case and review of the literature.
Read more about the article Normative values for high voltage electrical stimulation across the brachial plexus.
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Normative values for high voltage electrical stimulation across the brachial plexus.

Abstract To obtain normative values for High Voltage Electrical Stimulation across the brachial plexus between Erb's point, C8 root and T1 root. A case study of probable true thoracic outlet…

Continue ReadingNormative values for high voltage electrical stimulation across the brachial plexus.
Read more about the article Hb Limassol [beta8(A5)Lys–>Asn]: a new hemoglobin variant.
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Hb Limassol [beta8(A5)Lys–>Asn]: a new hemoglobin variant.

Abstract

Continue ReadingHb Limassol [beta8(A5)Lys–>Asn]: a new hemoglobin variant.
Read more about the article Familial homozygous hypercholesterolemia: effective long-term treatment with cascade double filtration plasmapheresis.
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Familial homozygous hypercholesterolemia: effective long-term treatment with cascade double filtration plasmapheresis.

Abstract Homozygous familial hypercholesterolemia (FH) is a rare disease with an incidence of 1 in 1 million births. It is characterized by blood cholesterol levels over 600 mg/dl and the…

Continue ReadingFamilial homozygous hypercholesterolemia: effective long-term treatment with cascade double filtration plasmapheresis.