Search

Izhodišče. Sladkorna bolezen tipa 1 (SBT1) je kronična avtoimunska bolezen, pri kateri hiperglikemija ter zvišana raven oksidativnega stresa in končnih produktov glikacije skupaj z genetskimi in okoljskimi dejavniki privedeta do nastanka diabetičnih zapletov. Krajše dolžine telomerov so povezane s hiperglikemičnimi epizodami in nižjimi serumskimi vrednostmi vitamina D.

Izhodišča. Razlike v številu aktivnih kopij gena SHOX (short stature homeoboxcontaining gen) so najpomembnejši monogenetski vzrok nizke rasti. Vpliv gena SHOX je opredeljen pri razvoju nizke rasti v sklopu Turnerjevega sindroma ali Leri-Weillove dishondrosteoze ter je lahko vzrok nesindromske idiopatske nizke rasti. Namen raziskave je določiti frekvenco delecij in mutacij gena SHOX v skupini slovenskih otrok z nizko rastjo ter opredeliti smernice za presejalno testiranje mutacij v genu SHOX.

Uvod. Razvojni zaostanek in displastične znake ugotavljamo pri 1-3% otrok. Molekularne citogenetske tehnike z visoko ločljivostjo (CGH- in SNP-mikromreže) so v zadnjih letih postale ključna preiskava v rutinski klinični diagnostiki pri preiskovancih z razvojnim zaostankom, displastičnimi znaki in drugimi nepravilnostmi. Metode in rezultati. V prispevku želimo prikazati klinične prednosti molekularnega citogenetskega pristopa v diagnostičnem postopku dveh otrok z razvojnim zaostankom, displastičnimi znaki in drugimi nepravilnostmi. Potrditev kromosomske preureditve z metodo FISH je potrebna za opredelitev točne kromosomske lokacije in mehanizma nastanka kromosomske nepravilnosti. Zaključek. V prispevku predstavljamo dva tipa kromosomskih nepravilnosti, ki smo jih ugotovili in potrdili z različnimi molekularnimi metodami. Poudariti želimo pomen potrjevanja in analize pri starših za opredelitev izvora nastanka kromosomske preureditve. Rezultati genetske preiskave so ključni pri genetskem svetovanju prizadetim posameznikom in njihovim družinam.

Antibody deficiency is common finding in patients with Jacobsen syndrome (JS). In addition, there have been few reports of T-cell defects in this condition, possibly because most of the reported patients have not been specifically evaluated for T-cell function. In this article, we present a child with an 11q deletion and combined immunodeficiency and we perform a literature overview on immunodeficiency in JS. Our patient presented with recurrent bacterial and prolonged viral infections involving the respiratory system, as well as other classic features of the syndrome. In addition to low IgM, IgG4, and B-cells, also low recent thymic emigrants, helper and naïve T-cells were found. We propose that patients with Jacobsen syndrome need thorough immunological evaluations as T-cell dysfunction might be more prevalent than previously reported. Patients with infections consistent with T-cell defects should be classified as having combined immunodeficiency. [ABSTRACT FROM AUTHOR]

Background: X-linked ocular albinism type 1 is difficult to differentiate clinically from other forms of albinism in young patients. X-linked ocular albinism type 1 is caused by mutations in the GPR143 gene, encoding melanosome specific G-protein coupled receptor. Patients typically present with moderately to severely reduced visual acuity, nystagmus, strabismus, photophobia, iris translucency, hypopigmentation of the retina, foveal hypoplasia and misrouting of optic nerve fibers at the chiasm. Materials and Methods: Following clinical ophthalmological evaluation, GPR143 gene mutational analyses were performed in a cohort of 15 pediatric male patients with clinical signs of albinism. Results: Three different mutations in the GPR143 gene were identified in four patients, including a novel c.886G>A (p.Gly296Arg) mutation occurring 'de novo' and a novel intronic c.360 + 5G>A mutation, identified in two related boys. Conclusions: Four patients with X-linked ocular albinism type 1 were identified from a cohort of 15 boys with clinical signs of albinism using mutation detection methods. Genetic analysis offers the possibility of early definitive diagnosis of ocular albinism type 1 in a significant portion of boys with clinical signs of albinism. [ABSTRACT FROM AUTHOR]

Short stature is a common growth disorder defined as a body height two standard deviations (SD) or more below the mean for a given age, gender, and population. A large part of the cases remains unexplained and is referred to as having idiopathic short stature (ISS). One of the leading genetic causes of short stature is variants of short stature homeobox-containing gene (SHOX) and is considered to be responsible for 2–15% of ISS. We aimed to analyse the regulatory and coding region of SHOX in Slovenian children and young adults with ISS and to investigate the pathogenicity of detected variants. Our cohort included 75 children and young adults with ISS. Multiplex ligation-dependent probe amplification (MLPA) was performed in all participants for the detection of larger copy number variations (CNVs). Sanger sequencing was undertaken for the detection of point variants, small deletions, and insertions. A total of one deletion and two duplications were discovered using the MLPA technique. Only one of these four variants was identified as disease-causing and occurred in one individual, which represents 1.3% of the cohort. With Sanger sequencing, two variants were discovered, but none of them appeared to have a pathogenic effect on height. According to the results, in the Slovenian population of children and young adults with ISS, SHOX deficiency is less frequent than expected considering existing data from other populations. [ABSTRACT FROM AUTHOR]