The primary pathological mechanism for paraneoplastic neurological syndromes is believed to be a form of onconeural immunity where the cancer causes a cross-immune reaction with the neurons. In a previous study, using a proteomic approach, we detected an anti-brain-type creatine kinase antibody that was associated with paraneoplastic cerebellar degeneration. Using immunohistochemistry, we showe...

Evidence is increasing that the creatine/phosphocreatine shuttle system plays an essential role in energy homeostasis in the brain and retina to ensure proper development and function. Thus, our understanding of the mechanism of creatine supply and creatine usage in the brain and retina and of creatine supplementation in patients with creatine deficiency syndromes is an important step towards i...

Fahmi Nasrallah, Hanene Benrhouma, Ichraf Kraoua, Gilbert Briand, Souheil Omar, Ilhem Turki Ben Youssef, Naziha Kaabachi 1 Department of Biology, School of Medicine, Laboratory of Biochemistry, Rabta Hospital, Jebbari, 1007 Tunis, Tunisia 2 Department of Child and Adolescent Neurology, School of Medicine, Mongi Ben Hmida Institute of Neurology, 1700 Tunis, Tunisia 3 Department of Biochemistry a...

recombinant human growth hormone (hgh) was given for 6 months or longer to 68 patients with gh deficiency, 6 with turner's syndrome and 5 with achondroplasia, during 1986-1994 in a prospective study. the total weekly administered dose of gh was 0.6 u/kg. by random sampling, 29 of 68 gh deficient patients (42.6%) received twice weekly (2 iw) intramuscular (im) injections, 17 (25%) received ...

objective: leukocyte adhesion deficiency(lad) is a scarce, autosomal recessive inherited disorder . lad-i which is the most common type occurs due to mutations on the cd18 gene. this mutation leads to absence or severe reduction of leukocyte cell surface expression of ß2 integrin molecules which are necessary for the adhesion of the leukocytes to the endothelial cells, transendothelial migratio...

Rhabdomyolysis constitutes an uncommon cause of acute kidney injury (AKI). A large variety causes with different pathogenic mechanisms may involve skeletal muscles resulting in rhabdomyolysis or without injury. Crush syndrome and unaccustomed physical exertion are the most common rhabdomyolysis. This study reports local cases AKI secondary to that presented a tertiary care centre over period fo...

Abstract: Infantile Tremor Syndrome is a clinical state, characterized by anemia, skin depigmentation, tremors and developmental delay in children between age 5 months to 3 years. Nutritional deficiency one of the most accepted theories, usually seen among breastfeeding vegetarian mothers. The present case report describes demographic, clinical, laboratory profile treatment outcome infantile tr...