Biallelic mutations in neuromuscular disease and epileptic encephalopathy.

Objectives: Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian ethnicity presenting with neonatal hypotonia, bradycardia, and recurrent seizures, were evaluated for the causative gene mutation.

Methods And Results: Homozygosity mapping and whole exome sequencing (WES) identified damaging homozygous variants in , namely c.4514C>T; p.

A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil.

Objective: Monogenic autoinflammatory diseases are disorders of Mendelian inheritance that are characterized by mutations in genes that regulate innate immunity and whose typical features are systemic inflammation without high-titer autoantibodies or antigen-specific T cells. Skin and bone inflammation in the newborn period have been described in 3 of these autoinflammatory disorders: neonatal-onset multisystem inflammatory disease, Majeed syndrome, and deficiency of interleukin-1 (IL-1) receptor antagonist (DIRA) syndrome. This study was undertaken to present the characteristics of the DIRA syndrome in 2 cases from Brazil, and describe a novel mutation in IL1RN.

Golgi-type I and Golgi-type II neurons in the ventral anterior thalamic nucleus of the adult human: morphological features and quantitative analysis.

The morphological and quantitative features of neurons in the adult human ventral anterior thalamic nucleus were studied in Golgi preparations. Two neuronal types were found and their quantitative features were studied. Golgi-type I neurons were medium to large cells with dense dendritic trees and dendritic protrusions and short hair-like appendages.

Serum sex hormones in premenopausal women with coronary heart disease.

Objectives: The objectives of this study were to investigate the relationship between the incidence of coronary heart diseases in premenopausal women and plasma level of total and free testosterone, estrogen, androstenedione and sex hormone binding globulin with coronary risk factors: fasting plasma concentration of glucose, triglyceride, total cholesterol, high and low density lipoproteins.

Methods: The study was conducted in Faculty of Medicine, Jordanian University of Science/Irbid Jordan and Technology and department of cardiology in Queen Alia Heart Institute/Amman Jordan during the period from April 2003 to March 2004. Serum sex hormones levels were measured in fifty-three premenopausal women; 25 women with coronary heart disease who had hypertension and/or diabetes mellitus and 28 women without coronary heart disease.

Homozygous AMN mutation in hereditary selective intestinal malabsorption of vitamin B12 in Jordan.

Objective: Juvenile megaloblastic anemia is a rare and often hereditary disorder of cobalamin absorption, transport or intracellular metabolism. Several syndromes present with megaloblastic anemia such as congenital megaloblastic anemia due to intrinsic factor defect and juvenile megaloblastic anemia with proteinuria due to defects in the cubilin or the amnionless protein.

Methods: We identified a large kindred with juvenile megaloblastic anemia.

Bcl-2 gene rearrangement in Jordanian follicular and diffuse large B-cell lymphomas.

Objective: Follicular lymphoma (FL), a common subtype of non-Hodgkin's lymphoma (NHL) in the West, represents a rare subtype in Jordan. Bcl-2 gene rearrangement plays a crucial role in the biology of the vast majority of FL and a substantial number of diffuse large B-cell lymphoma (DLBCL) in the West; but its presence has not been studied in Jordan. Our aims are to document if bcl-2 gene rearrangement exists in Jordanian FL and DLBCL, and if present to determine whether its frequency among these lymphomas is different from the West and therefore may be responsible for some of the epidemiological differences seen between Jordan and the West.

Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population.

Objective: Familial Mediterranean Fever (FMF) is an autoinflammatory periodic disorder characterized by febrile and painful attacks due to inflammation involving the serosal membranes. The gene implicated in this disorder, MEFV, has been cloned and mutations in its coding regions have been identified. We aimed at identifying the frequency of MEFV mutations and carrier frequency in a mixed Arabic population.

Nuclear zinc in liver of cadmium and zinc treated rats.

X-ray microanalysis was performed to detect quantitatively, the variation of the nuclear zinc in the liver cells of rats. The nuclear zinc concentration showed statistical decrease and increase in response to cadmium and zinc treatments, respectively. The results suggest that the liver responds differently to cadmium and zinc treatments.

Linkage analysis of a large inbred family with congenital megaloblastic anemia.

Objective: Megaloblastic anemia during infancy and early childhood often reflects a hereditary disorder of cobalamin's absorption, transport, or intracellular metabolism. There are 3 well defined autosomal recessive syndromes manifesting with megaloblastic anemia due to defects in cobalamin absorption or transport, namely congenital pernicious anemia, Imerslund-Grasbeck syndrome and Transcobalamin II deficiency. The genes responsible for the 3 disorders are gene intrinsic factor (GIF), MGA1 and TCN2, as well as the gene for Transcobalamin I, TCN1 are mapped or cloned, or both.

Zinc in normal and pathological human prostate gland.

Objective: This study is conducted to detect quantitatively zinc in the nuclei and cytoplasm of epithelial cells of the prostate from normal, acute prostatitis, benign prostatic hyperplasia and adenocarcinoma.

Methods: Prostatic tissues from normal, acute prostatitis, benign prostatic hyperplasia and adenocarcinoma were obtained from patients and processed for zinc detection using x-ray microanalysis technique. The samples were collected over a period of 2-3 years and were processed at Jordan University of Science and Technology, Irbid, Jordan.