Publications by authors named "A Sallai"
"Characterized by both intrauterine and postnatal growth retardation, and consequent small stature, Silver–Russell syndrome is associated with typical minor anomalies (relative macrocephalia, protruding forehead, downturned corners of mouth, micrognathia, low set ears, facial, skeletal and limb asymmetry) and findings involving mainly the endocrine system. The molecular background of the syndrome is complex, but it is most often caused by the involvement of critical regions of chromosome 11 and/or chromosome 7. Beside the molecular diagnosis, the Netchine–Harbison clinical scoring system aims to contribute to the successful diagnosis of Silver–Russell syndrome.
View Article and Find Full Text PDFÖsszefoglaló. A gyermekkorban kialakuló Cushing-szindróma ritka betegség, a leggyakrabban exogén szteroidadás következményeként jelentkezik. A daganatos betegségek közül a hypophysis kortikotropint szekretáló adenomája, illetve a mellékvesekéreg-tumorok okoznak a leggyakrabban Cushing-szindrómát.
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- The study investigates genetic causes of 46,XY disorders/differences of sex development (DSD), particularly gonadal dysgenesis and testis regression syndrome (TRS), which often have unknown origins.
- Researchers used exome and Sanger sequencing on 145 individuals, discovering pathogenic variants in the DHX37 gene that are linked to these conditions.
- The findings suggest that DHX37 variants contribute to an autosomal dominant form of 46,XY DSD, indicating a potential connection between these conditions and ribosomopathies.
Angioid streaks are defined as the special morphological alteration of the fundus; the most common clinical manifestations are irregular, reddish brownish stripes around the optic nerve head or on the posterior pole. On the basis of histological examination, the cause of this phenomenon is the breaks and continuity deficiencies in the thin layer of Bruch membrane caused by the degeneration of elastic fibers. The aim of this study is to present the ocular complication of this rare entity through the description of three cases, and to draw attention to systemic diseases in the background.
View Article and Find Full Text PDFIntroduction: Early diagnosis of sex chromosome abnormalities is important because of prevention, family planning and optimal therapy.
Aim: Investigation of the relationship between phenotype, age at time of diagnosis and therapeutic options in sex chromosome aberrations.
Method: Processing data of 51 children with sex chromosome abnormalities who were diagnosed between 2009 and 2014 and examined at the 2nd.