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A hemophiliac boy was hospitalized due to head injury in the previous sixteen days. On asmission the consciousness decreased and visus of both eyes was 1/oo. CT scan showed blood clot in the area of dorsomedial of medial cerebral arteria and sign of hydrocephalus. A surgical procedure could not be taken due to lack of facilities (antihemophilic factor supply and assay of factor VIII activity). …
A diagnosis of thalassemia has advanced from clinical to molecular in concordance with the advances in molecular biology. Since the introduction of polymerase chain reaction procedure-a practical in vitro procedure of deoxyribonucleic acid amplification-various diagnostic methods have been developed, to detects either gene deletions or point mutations. In a population where the spectrum of muta…
The clinical diagnosis of thalassemia syndrome is not difficult to establish with relatively simple Investigations, but molecular study is needed to determine the genotype and for the prenatal diagnosis. In the molecular study, the DNA should be first amplifed and among the amplification techniques polymerase chain reaction is the simplest and the most rapid one. The procedure can in vitro ampl…
Beta-thalasemia is mainly caused by point mutation of Beta-gene. There are more than 130 mutations, while only a little more than 20 haplotypes in Beta-gene. Many types of mutation are associated with one haplotype. On the other hand, one type of mutation may be associated with more than one chromosome haplotypes. The association of mutation and haplotype raises many questions. An analysis of h…
During April 1991-June 1993 PTMC (Inoue method) was performed on 102 subjects with symptomatic mitral stenosis, consist of 32 males and 70 females. Mean of age was 33.12 plus/minus 10.50 years. Atrial fibrillation was found in 42.2 percent of patients. All patients had mitral valve score (Wilkins) less than and equal 8 and 53 percent patients had moderate-severe pulmonary hypertension. Mitral r…
Sterile culture results were quite often found in corneal ulcer patients. This condition usualy related to insufficient material available for culture. In order to increase bacterial isolation rate, improvement of the microbiological isolation method using enriched media prior to the isolation were perfomed. The results showed that, using this method, sterile culture results were significantly …