Hereditary non-syndromic hearing loss: influence of different variables

Non-syndromic hearing loss [NSHL] was studied in twenty-five patients using a clinical, audiological, cytogenetic and neurobiochemical evaluation. The study group was divided into five subgroups according to severity of hearing loss. Positive parental consanguinity was present in 84% of cases and similarly affected family members were present in 76%. All patients had no congenital malformations and were not dysmorphic. Patients possibly exposed to environmental factors were excluded from the study. Abnormal karyotyping was present in three cases, one case showed chromosome 15p 4, another case showed chromosomal del 11q22.1 and in the third case [47,XY] there was marker chromosome 15. Fluorescence in situ Hybridization [FISH] technique was performed on the case which showed marker. The study group showed significant lowering of five plasma amino acid levels [glutamic acid, aspartic acid, histidine, 3-methylhistidine and carnosine]. There was significant correlation between severity of hearing loss and each of the following: patient's age, glutamic acid, aspartic acid, 3-methylhistidine and carnosine. Identification of NSHL early after birth, as well as, amino acid screening is essential, to allow for faster therapeutic intervention and proper genetic counseling

Study of the cytokine transforming growth factor beta-1 in patients with chronic virus hepatitis

This work was conducted on 40 patients with chronic virus hepatitis [21 patients with chronic hepatitis C with bilharzial periportal fibrosis, 2 patients with combined chronic hepatitis B and C and 17 patients with chronic hepatitis C alone] in addition to 10 healthy age and sex matched control subjects. The objective of this work was to study the status of TGF- beta-1 among patients with chronic virus hepatitis and its relation to age and sex and to evaluate the effect of colchicine and oral enzyme therapy on the level of TGF- beta-1. Patients were divided into 2 groups, group I who received oral enzyme therapy and group II who received colchicine, plasma level of TGF- beta-1 was estimated by ELISA with [MEDGENIX TGF- beta-1, ELISA kit] before and after receiving the treatment. It was found that plasma TGF- beta-1 level was significantly higher in patients with chronic virus hepatitis than control group and this level is not related to age or sex. The plasma TGF- beta-1 level was significantly higher in patients with chronic hepatitis C infection with bilharzial periportal fibrosis of liver than in patient with chronic hepatitis C alone, also it was significantly higher in patient with ultrasonographic findings of cirrhosis than those without cirrhosis. The plasma TGF- beta-1 level had no correlation with liver function tests but had positive correlation with serum procollagen III. Before treatment there was no significant difference in clinical picture, laboratory investigations, serum procollagen III and plasma TGF- beta-1 level between group I and group H but after treatment, there was improvement in clinical picture, liver function tests and significant reduction of serum procollagen III and plasma TGF- beta-1 level in group I but not in group II. So it can be concluded that plasma TGF- beta-1 level is a good marker of liver fibrogenesis and oral enzyme therapy is anti-TGF- beta-1 and can reduce the hepatic fibrosis in patients with chronic viral hepatitis

Clinical and biochemical variability of the classical smith-lemli-opitz syndrome in Egyptians

Smith-Lemli-Opitz syndrome [SLO] is the first true metabolic malformation syndrome. The underlying defect is absent or deficient activity of 7-dehydrocholesterol reductase, which is the enzyme catalyzing the last step of cholesterol synthesis. We report on the first Egyptian cases [seven males] with SLO. We studied the clinical and biochemical variability of the syndrome and its relation to patients' age. Mental retardation, 2/3 toe syndactyly and genital anomalies were present in all patients. The distinct facial appearance became less obvious with age. All patients had marked elevation of plasma 7-dehydrocholesterol, which were measured by use of ultraviolet spectrometry. Plasma cholesterol measured by calorimetric method, were within the low normal range in most patients. Dietary cholesterol supplementation in two patients resulted in improvement of behaviour, better tolerance of infection, diminution of photosensitivity, pubertal progression and improvement in plasma sterol levels. The clinical phenotype of SLO is widely variable and plasma cholesterol levels are not reliable for detection of the syndrome. Therefore, diagnosis of SLO by demonstrating increased plasma concentrations of 7-dehydrocholesterol using ultraviolet spectrometry is a rapid and reliable method. Increased awareness of SLO is required for early diagnosis and dietary treatment of affected individuals

Chlamydia trachomatis as an aetiological agent in seropositive rheumatoid arthritis

The sera of 50 patients with rheumatoid arthritis [RA] diagnosed clinically and laboratory by positive latex test for rheumatoid factor were further subjected to Rose Waaler test to confirm the diagnosis. Using ELISA technique IgG antibodies against Chlamydia trachomatis, [CT] were not detected in the positive Rose Waaler samples [42 samples]. It was concluded that CT most probably is not involved in the etiology of seropositive RA in Egypt

in-vitro effect of albumin on platelet aggregation in patients with hypoalbuminaemia

Platelet aggregation induced by adenosine diphosphate [ADP] was studied in 25 patients with hypoalbuminaemia due to different pathology, before and after addition of 2 different volumes of concentrated albumin solution. The work revealed that the in vitro of addition of albumin to platelet rich plasma [PRP] to reach approximately the normal serum albumin level resulted in a significant decrease of maximum aggregation percent in patients with hypoalbuminaemia. No significant correlation was found between serum albumin level and maximum aggregation percent before the addition of albumin. It was concluded that the correction of hypoalbuminaemia by albumin infusion in nephrotic patients could be of great value to diminish the incidence of thrombotic complications in such patients

Effect of hemodialysis on antithrombin III and platelet function in Egyptian patients with renal failure

Platelet aggregation induced by Adenosine Diphosphate [ADP], Antithrombin III [AT III] activity and platelet count were assessed in 20 patients suffering from renal failure and maintained on regular haemodialysis. They were measured serially at the start, the middle and the end of dialysis sessions. The three parameters were significantly lower than those of an equivalent control group at the start of dialysis. Platelet aggregation and AT III activity increased by the end of dialysis, I they were still significantly less than of the control group. Platelet count, continued to decrease throughout the dialysis and this was most evident in the dialyzer effluent line than in the affluent one. The study concluded that platelet aggregation and AT III activity should be monitored periodically in patients maintained on haemodialysis. These parameters possibly offer a predictive appraisal as such patients might be at increased risk of serious haemorrhagic or thrombotic complications