Down Syndrome and Thyroid Gland

Down Syndrome (DS) or trisomy 21 (T21) is the most frequent and the best known malformation syndrome associated with mental deficiency that appears in human,. Average incidence of this syndrome is about 1:700 newborns. Numerous researchers noted thyroid disorders in people with Down Syndrome but, clinical symptoms of thyroid dysfunction are difficult to separate from DS phenotype. The aim of this study was to examine the thyroid function in the patients with DS. Our results confirmed higher frequency of thyroid dysfunction in DS patients. Higher values of TSH were found in 60,34% of the examined DS patients, which is significantly higher value comparing with the control group (p<0,01). Compensated hypothyroidism was established in 27,92% of the examined DS patients, and most of those (63,23%) were younger than 6 years. The conclusions emphasize the necessity of implementation of thyroid function screening program in persons with DS, and the need for adequate treatment of its dysfunction. Thus, the symptoms of the disease would be alleviated and better physical and mental fitness ensured

Down Syndrome and Thyroid Gland

Down Syndrome (DS) or trisomy 21 (T21) is the most frequent and the best known malformation syndrome associated with mental deficiency that appears in human,. Average incidence of this syndrome is about 1:700 newborns. Numerous researchers noted thyroid disorders in people with Down Syndrome but, clinical symptoms of thyroid dysfunction are difficult to separate from DS phenotype. The aim of this study was to examine the thyroid function in the patients with DS. Our results confirmed higher frequency of thyroid dysfunction in DS patients. Higher values of TSH were found in 60,34% of the examined DS patients, which is significantly higher value comparing with the control group (p<0,01). Compensated hypothyroidism was established in 27,92% of the examined DS patients, and most of those (63,23%) were younger than 6 years. The conclusions emphasize the necessity of implementation of thyroid function screening program in persons with DS, and the need for adequate treatment of its dysfunction. Thus, the symptoms of the disease would be alleviated and better physical and mental fitness ensured

Neonatal bacterial meningitis: Results from a cross-sectional hospital based study

Objective. The aim of the study was to determine the epidemiological characteristics of bacterial meningitis observed in neonates born in the Department of Gynaecology and Obstetrics, University Clinical Centre Tuzla, Bosnia and Herzegovina, admitted to Intensive care unit (NICU) or readmitted, because of suspected infection, after discharge from the nursery. Subjects and methods. This study was carried out from July 1, 2012 to June 30, 2013. During this period 4136 neonates were born. All neonates admitted to the Intensive care unit with signs and symptoms of systemic infections, and neonates readmitted to the Intensive care unit, after discharge from the nursery for sepsis work up were included in the study. Results. Eighteen of 200 neonates (9%) admitted or readmitted to the NICU developed meningitis. 61% cases were late onset meningitis. The overall incidence was 4.4/1000 live births. The mortality rate was 11.1%. The mean age of symptom presentation was 8.7 days. The most common clinical features were: fever, respiratory distress and jaundice. Significant risk factors for acquiring meningitis were: male gender, Caesarean delivery, stained amniotic fluid. Positive CSF finding were detected in 6/18 (33.3%) of cases. Gram-positive bacteria were more frequently responsible for confirmed meningitis. In all neonates with meningitis blood culture was examined and 5 (50%) yielded Gram-negative bacteria. Conclusion. The high rates of neonatal meningitis with predominant late onset may suggest nosocomial origin. Measures to improve antenatal, intrapartum and delivery care and measures during NICU hospitalisation are necessary to lower the risk of nosocomial infections

Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss

<div><p>Hereditary hearing loss (HL) is a common sensory disorder, with an incidence of 1–2 per 1000 newborns, and has a genetic etiology in over 50% of cases. It occurs either as part of a syndrome or in isolation and is genetically very heterogeneous which poses a challenge for clinical and molecular diagnosis. We used exome sequencing to seek a genetic cause in a group of 56 subjects (49 probands) with HL: 32 with non-syndromic non-<i>GJB2</i> HL and 17 with syndromic HL. Following clinical examination and clinical exome sequencing, an etiological diagnosis was established in 15 probands (15/49; 30%); eight (8/17;47%) from the syndromic group and seven (7/32; 21%) from the non-syndromic non-<i>GJB2</i> subgroup. Fourteen different (half of them novel) non-<i>GJB2</i> variants causing HL were found in 10 genes (<i>CHD7</i>, <i>HDAC8</i>, <i>MITF</i>, <i>NEFL</i>, <i>OTOF</i>, <i>SF3B4</i>, <i>SLC26A4</i>, <i>TECTA</i>, <i>TMPRSS3</i>, <i>USH2A</i>) among 13 probands, confirming the genetic heterogeneity of hereditary HL. Different genetic causes for HL were found in a single family while three probands with apparent syndromic HL were found to have HL as a separate clinical feature, distinct from the complex phenotype. Clinical exome sequencing proved to be an effective tool used to comprehensively address the genetic heterogeneity of HL, to detect clinically unrecognized HL syndromes, and to decipher complex phenotypes in which HL is a separate feature and not part of a syndrome.</p></div

Disease causing variants and variants of uncertain significance in HL probands.

<p>Disease causing variants and variants of uncertain significance in HL probands.</p

Clinical characteristics of HL probands with rare variants.

<p>Clinical characteristics of HL probands with rare variants.</p

Primary cohort characteristics (n = 49 probands).

<p>Primary cohort characteristics (n = 49 probands).</p

Exome sequencing outcome in the cohort of probands with non-syndromic and syndromic HL.

<p>Exome sequencing outcome in the cohort of probands with non-syndromic and syndromic HL.</p