Partial trisomy 4(q31qter) due to maternal 4;5 balanced translocation in a neonate

WOS: 000248411700001PubMed: 17710868We describe a male neonate with a duplication of4(q31.3qter) due to unbalanced segregation of a maternal translocation (4;5)(31.3;p15.1). He has a high broad nasal bridge, large, low-set ears, epicanthal folds, long philtrum, retrognathia, high arched palate, wide-spaced nipples, bilateral single transverse palmar creases, bilateral clinodactyly of the fifth finger, right cryptorchidism, and ventricular and secundum type atrial septal defect

Partial trisomy 1(q25qter) due to a de novo unbalanced 1;19 translocation in a neonate

WOS: 000252605500007PubMed: 18286822We describe a male neonate with a duplication of 1(q25qter) due to de novo unbalanced translocation (1;19)(q25;pter). He had macrocephaly, wide sutures and wide anterior fontanelle, bilateral temporoparietal bossing, downward slanting palpebral fissures, low set, posteriorly rotated ears, downturned mouth corners, thin upper lip, retrognathia, high arched palate, triangular face, widely spaced nipples, bilateral single transverse palmar creases, bilateral partial syndactyly between second and third toes, ventricular dilatation,, corpus callosum hypoplasia, and cavum septi pellucidi and cavum vergae, ventricular and atrial septal defects

The Prevalence of Goiter and Hypothyroidism among School Children 6 Years after Introduction of a Mandatory Salt Iodination Program in a Severely Iodine-Deficient Area of the West Black Sea Region of Turkey

WOS: 000340684700009PubMed: 24519672The objective of the current study was to determine the prevalence and the degree of iodine deficiency after mandatory salt iodization in Yigilca's school-aged children. A total of 806 school children aged 6-19 years were evaluated. The prevalence of goiter in children aged 6-12 and 13-19 years was 20.3 and 23.8%, respectively. The prevalence of hypothyroidism in children aged 6-12 and 13-19 years was 10.4 and 18.9%, respectively. The median serum free tetraiodothyronine (fT4) levels in children aged 6-12 and 13-19-years were 1.16 ng/dL and 0.91 ng/dL, respectively. The median urinary iodine concentration levels in children aged 6-12 and 13-19 years were 83 mu g/l and 78 mu g/l, respectively. The frequency of autoimmune thyroid disease was 2.1% in Yigilca's SAC. Goiter and iodine deficiency problems remain in rural areas of the West Black Sea Region of Turkey

Do baby wet wipes change periurethral aerobic flora?

WOS: 000248492400019PubMed: 17642540There is massive enteric bacterial colonization in the periurethral region during infancy. Fecal soiling is considered to be responsible for this colonization. We hypothesized that baby wet wipes containing chemical cleansing compounds, which are used for the cleaning of babies after diaper soiling, could be a contributing factor in this colonization. Thus, the effect on periurethral flora of two different methods of baby cleaning was compared. Periurethral culture samples were obtained from 173 infants who were cleaned with baby wet wipes (Group A, n = 96) or water and napkins (Group B, n = 77) after diaper soiling. The colonization of uropathogens and the presence of flora were analyzed. The results of the periurethral cultures were similar in both groups. The rates of uropathogen colonization only, uropathogen and skin flora colonization, and skin flora only or no growth in Groups A and B were 18.7, 61.5, and 19.8%, and 14.3, 66.2, and 19.5, respectively. The differences between the groups were statistically insignificant (P > 0.05); however, there was no significant difference in the frequency of uropathogen isolation between males and females. We therefore concluded that baby wet wipes are as safe as water for the cleaning of babies after diaper soiling

A novel thyroid hormone receptor-beta mutation that fails to bind nuclear receptor corepressor in a patient as an apparent cause of severe, predominantly pituitary resistance to thyroid hormone

Lahiri, Sharon/0000-0003-0678-6262WOS: 000237330000042PubMed: 16464943Context: Resistance to thyroid hormone ( RTH) is a dominantly inherited syndrome of variable tissue hyporesponsiveness to thyroid hormone ( TH). Objective: We report a newborn who presented with severe RTH ( Mkar) with serum TSH 1500 mU/ liter and free T-3 greater than 50 p(M) ( normal 3.1 - 9.4) and free T-4 25.3 pM ( normal 12 - 22). We hypothesized that the RTH was due to reduced ligand binding and/ or abnormal interaction with nuclear cofactors. Design: These were prospective in vivo and in vitro studies. Setting: The study was conducted at a tertiary care university hospital. Patients: Patients included a newborn child and two other subjects with RTH. Intervention: The effect of various TH- lowering agents in the subject with RTH was studied. In vitro studies including EMSA and mammalian two- hybrid assay as well as in vitro transfection studies were conducted. Main Outcome Measures: Sequencing of the TH receptor ( TR)beta and in vitro measurements of receptor- cofactor interaction were measured. Results: Sequencing of the TR beta demonstrated a de novo heterozygous mutation, 1590_ 1591insT, resulting in a frameshift producing a mutant TR beta( mutTR)-beta with a 28- amino acid ( aa) nonsense sequence and 2- amino acid carboxyl- terminal extension. The Mkar mutation was evaluated in comparison to three other TR beta frameshift mutations in the carboxyl terminus. EMSA demonstrated that the Mkar mutTR beta 1 had impaired ability to recruit nuclear receptor corepressor but intact association with silencing mediator of retinoid and thyroid receptor ( SMRT). Conclusion: Our data suggest that alterations in codons 436 - 453 in helix 11 result in significantly diminished association with nuclear eceptor corepressor but not SMRT. This novel mutTR beta demonstrates nuclear corepressor specificity that results in severe predominantly pituitary RTH due to impaired release of SMRT.NCRR NIH HHSUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Center for Research Resources (NCRR) [RR00055, RR18372]; NIDDK NIH HHSUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Diabetes & Digestive & Kidney Diseases (NIDDK) [DK15070, DK07011