نتایج جستجو برای: alport syndrorme
تعداد نتایج: 843 فیلتر نتایج به سال:
Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4 (recessive) genes. This study examined 754 previously- unpublished variants in these genes from individuals referred for genetic testing in 12 accredited diagnostic laboratories worldwide, in addition to all published COL4A5, COL4A3 and COL4A4 variants in the LOVD databases. It also determined genotype-phenotype co...
Background: Cochlear implants are now an acceptable therapeutic option for those patients with irreversible hearing loss and deaf-mutism. The surgery is time consuming and complicated. Hence, the technique of anaesthesia plays a crucial role in success of cochlear implant surgery. Cochlear implant patients have various types of syndromes which are important from anaesthetic as well as surgical ...
Alport syndrome (AS) is a hereditary disease that causes hearing impairment, kidney failure, and ocular abnormalities. Because AS rare disease, it might remain undetected, meaning impacted individuals their kin have low chances of being screened receiving timely genetic counseling. Also, diagnosing requires high expertise complex technology, which are expensive for most patients. These limitat...
The syndrome of hereditary nephritis and perceptive deafness was first recognized by Alport (1927), although reports suggestive of this association date from the latter part of the i8th century. The syndrome has since been widened to include certain ocular defects, such as lenticonus, microspherophakia, and lens opacities, and about IOO families have been described in the world literature. In r...
The detection of microscopic hematuria in a child's urine prompts evaluation for renal and urinary bladder causes. Microscopic hematuria identified during a routine physical examination by the pediatrician is much more common than macroscopic hematuria. Persistent microscopic hematuria is particularly worrisome and may require a percutaneous needle core kidney biopsy to determine whether the et...
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