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M. Mačkić

Društvene mreže:

Sanita Maleškić, Nina Jurić, M. Mačkić, Đurović

Aim: Evaluation of the significance of micronuclei (MN) as biomarkers for evaluation the risk of malignant transformation in uterine cervix. MN are intracytoplasmic inclusion bodies from chromatin fragments or whole chromosomes. Their presence in cells is a reflection of chromosomal aberration during cellular mitosis. Patients and methods: MN screening was done in all selected cytopathological smears (conventional Papanicolaou test) by counting 1000 cervical squamous cells with a light microscope at a magnification of 1000x. Results: Comparisons between women with progressive increases in cervical intraepithelial neoplasia (CIN) and control group. The MN frequencies observed were significantly higher in the groups with cellular changes compared to the control group. Conclusion: The results described that the MN test in cervix smears could be incorporated into routine screening procedures as an additional criterion for early detection of cytopathologocal damage. However, additional detailed, systematic studies are needed to confirm this suggestion.

Wolf-Hirschhorn Syndrome: Report of two Cases in Bosnia and Herzegovina Wolf-Hirschhorn syndrome (WHS) is a rare developmental disorder caused by a partial deletion of the short arm of chromosome 4 (4p-). The main phenotypic characteristics of WHS are: intrauterine growth retardation, mental retardation, typical facial dysmorphism, microcephaly and midline fusion defects (cleft lip or palate, cardiac septal defects). Other abnormalities, such as agenesis of the corpus callosum, dysplastic kidneys, iris coloboma and skeletal abnormalities have occasionally been described. We describe two female newborn babies with a 4p deletion, who have a majority of the main phenotypic features of WHS. Prenatal diagnosis of the syndrome is very important, because dysmorphologic features are associated with profound mental retardation. Postnatal recognition of the syndrome requires genetic counseling of the parents and supportive multidisciplinary treatment.

Fryns syndrome is an extremely rare developmental disorder associated with deletion of long arm of chromosome 16. Characteristics of the Fyns syndrome are: craniofacial dysmorfism, diaphragmatic defects with lung hypoplasia, distal digital hypoplasia, brain and urogenital abnormalities and other developmental disturbances. After the first description in two stillborn sisters by Fryns (1971), new reports appeared with descriptions included disorders which have not described previously. We described a case of female live born with deletion of long arm of chromosome 16. Our patient had a typical craniofacial dysmorfism, brain abnormalities (Dandy Walker malformation), cardiac defects (artial septal defect and persistent ductus arteriosus), renal hypoplasia, gastrointestinal problems, hypotonia and feeding difficulties. Our patient had no diaphragmatic hernia and he survived neonatal period with severe neurological impairment.

Wolf-Hirschhorn syndrome (WHS) is a rare developmental disorder associated with hemizygous deletion of short arm of chromosome 4. Main phenotype characteristics of WHS are: intrauterine growth retardation, mental retardation, typical facial dysmorphism ("Greek warrior helmet"), microcephaly and midline fusion defects (cleft lip or palate, cardiac septal defects). Other abnormalities, like agenesis of corpus callosum, dysplastic kidneys, coloboma iris, skeletal abnormalities have been described occasionally. We described female newborn baby with 4p deletion, who had most of the phenotype characteristics of Wolf-Hirschhorn syndrome: intrauterine growth retardation, microcephaly, facial dysmorphism, congenital hypotonia and seizures in neonatal period. Other abnormalities included: hypoplastic cervical vertebra C4-C5, renal cyst and partial agenesis of corpus callosum. Patient had not cardiac septal defect. Due to a broad spectrum of possible morphologic abnormalities followed by mental retardation, prenatal diagnosis is very important. Postnatal recognition of the syndrome requires genetic counseling of parents and supportive multidisciplinary treatment.

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