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AIM The present study is carried out to evaluate the risk of giving birth to children with Down syndrome in a family with Robertsonian translocation 14q;21q, and to find the dermatoglyphic changes present in carriers of this translocation. METHODS Cytogenetics diagnosis has been made according to Moorhead and Seabright method, while the analysis of prints(More)
The Klotho gene was identified as an 'aging suppressor' in mice. Overexpression of the Klotho gene extends lifespan and defective Klotho results in rapid aging and early death. Both the membrane and secreted forms of Klotho have biological activity that include regulatory effects on general metabolism and a more specific effect on mineral metabolism that(More)
AIM The purpose of the present research was a presentation of case report of Robertsonian translocation composed of homologous chromosomes 21q;21q and reproductive risk found in the family affected by this type oftranslocation. METHODS Cytogenetic diagnosis has been done on chromosome preparations of lymphocytes cultured from peripheral blood by Moorhead(More)
AIM The aim of this work has been to present the frequency, etiology and several other socio-demographic characteristics of acute poisoning in children. THE TREATED PATIENTS AND METHODS OF WORK: The treated patients were children of all age groups hospitalized in the Pediatric Clinic of Prishtina during year 2009. The study was done retrospectively. The(More)
AIM The aim of this study was the evaluation of risk among the couples various types of Robertsonian translocations. METHODS Cytogenetic diagnosis has been carried out according to the Moorhead and Seabright method. RESULTS Cytogenetics diagnosis was performed in 17 couples having Robertsonian translocations. Among our examined cases, the most frequent(More)
AIM THE AIM OF WORK HAS BEEN THE PRESENTATION OF THE RATE AND TIME TRENDS OF SOME INDICATORS OF THE HEATH CONDITION OF MOTHERS AND CHILDREN IN KOSOVO: fetal mortality, early neonatal mortality, perinatal mortality, infant mortality, natality, natural growth of population etc. The treated patients were the newborn and infants in the post neonatal period,(More)
CONFLICT OF INTEREST none declared. AIM The aim of this research was to ascertain the frequency of three basic cytogenetical types of Down syndrome among Kosova Albanian population and to evaluate the maternal age effect on the frequency of births of children with Down syndrome. METHODS Cytogenetics diagnosis has been made according to the standard(More)
AIM The aim of this work the report of one case with vitamin D-dependent rickets, type II. METHODS Diagnosis has been established based on anamnesis, physical examination, laboratory findings and radiological examination. RESULTS A female child (age 25 months) has been hospitalized due to bone deformity, bone pain, alopecia and walking difficulties. The(More)
AIM The aim of work was presentation of several socio-demographic, clinical and laboratory characteristics of gastroenteritis caused by rotavirus. THE EXAMINEES AND METHODS The examinees were children under the age of five years treated at the Pediatric Clinic due to acute gastroenteritis caused by rotavirus. Rotavirus is isolated by method(More)
Hypospadia is the most common congenital malformation of the urinary tract. It is a malformation with the opening of the urethra proximally from the usual site. The meatal opening can be anywhere alone the shaft of the penis, or in more severe forms, within the scrotum, or in the perineum. Consequently the hypospadias can be distal, medial and proximal. The(More)