7 research outputs found
Incidence of nocturnal enuresis and nocturia in children with tuberculosis
No full textNocturnal enuresis is a common problem and occurs in 15 to 20 percent of 5-year-old children. The etiology of nocturnal enuresis remains unknown and is probably multifactorial. In this study 52 children aged between 6-17 years with tuberculosis were questioned for nocturia and nocturnal enuresis, retrospectively. Nocturnal, enuresis was found in 12 (23%) and nocturia in 22 (42%) of the children, respectively. After specific treatment with antituberculosis drugs nocturnal enuresis and nocturia were improved in 5 and 21 children, respectively. However, it could not be explained why these disorders were much higher in children with tuberculosis than healthy children. The findings suggest that nocturnal enuresis and nocturia may be in a high frequency in children with tuberculosis; however, the authors think that prospective and more extensive studies should be performed to clarify these preliminary findings
Response to growth hormone treatment in very young patients with growth hormone deficiencies and mini-puberty
No full textPubMedID: 29353264The aim of the study was to assess the response to growth hormone (GH) treatment in very young patients with GH deficiency (GHD) through a national, multi-center study. Possible factors affecting growth response were assessed (especially mini-puberty). Medical reports of GHD patients in whom treatment was initiated between 0 and 3 years of age were retrospectively evaluated. The cohort numbered 67. The diagnosis age was 12.4±8.6 months, peak GH stimulation test response (at diagnosis) as 1.0±1.4 ng/mL. The first and second years length gain was 15.0±4.3 and 10.4±3.4 cm. Weight gain had the largest effect on first year growth response; whereas weight gain and GH dose were both important factors affecting second year growth response. In the multiple pituitary hormone deficiency (MPHD) group (n=50), first year GH response was significantly greater than in the isolated GH deficiency (IGHD) group (n=17) (p=0.030). In addition first year growth response of infants starting GH between 0 and 12 months of age (n=24) was significantly greater than those who started treatment between 12 and 36 months of age (n=43) (p<0.001). These differences were not seen in the second year. ? Length/height standard deviation score (SDS), ? body weight SDS, length/height SDS, weight SDS in MPHD without hypogonadism for the first year of the GH treatment were found as significantly better than MPHD with hypogonadism. Early onsets of GH treatment, good weight gain in the first year of the treatment and good weight gain-GH dose in the second year of the treatment are the factors that have the greatest effect on length gain in early onset GHD. The presence of the sex steroid hormones during minipubertal period influence growth pattern positively under GH treatment (closer to the normal percentage according to age and gender). © 2018 Walter de Gruyter GmbH, Berlin/Boston.22014Acknowledgments: For technical support, we would like to thank the ÇEDD-NET Web Registry System and its staff, as well as the Turkish Society of Endocrinology and Diabetes. Author contributions:S. Cetinkaya, F. Darendeliler: Concept, design, analysis, interpretation of data, writing the manuscript or revising it critically for content, S. Poyrazoglu, F. Baş, O. Ercan, M. Yıldız, E. Adal, A. Bereket, S. Abalı, Z. Aycan, Ş. Savaş Erdeve, M. Berberoglu, Z. Sıklar, M. Tayfun, Ş. Darcan, E. Mengen, İ. Bircan, F. M. Çizmecioğlu Jones, E. Şimşek, E. D. Papatya, M. N. Özbek, S. Bolu, A. Abacı, M. Büyükinan: Interpretation of data. All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission. Research funding: This work was supported by the Turkish Pediatric Endocrinology and Diabetes Society (Grant Number: 022014). Employment or leadership: None declared. Honorarium: None declared. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication
Distal vaginal atresia resulting in obstructive uropathy accompanied by acute renal failure.
No full textCO exposure and puff topography are associated with Lebanese waterpipe dependence scale score
No full textIntroduction: Waterpipe tobacco smoking involves self-administration of the dependence-producing drug nicotine. Few studies have examined if dependence in waterpipe smokers influences toxicant exposure and smoking behavior. Method: Current waterpipe tobacco smokers were categorized based on Lebanese Waterpipe Dependence Scale-11 (LWDS-11) score (LWDS-11: LOW 7; N = 59; HIGH 13; N = 59). Participants abstained from smoking for 12 hr and then completed a single 30-min waterpipe tobacco smoking episode. Expired-air carbon monoxide (CO) was measured before and 5 min after smoking and puff topography was measured during smoking. Results: Total mean smoking time was 30.9 min (SD = 3.5) and did not differ significantly by LWDS-11 score. CO boost was greater for participants in the HIGH versus LOW groups (62.3 vs. 43.6 ppm, p .01). Similarly, those in the HIGH versus LOW group took more puffs (198.6 vs. 157.1 puffs, p .01), longer duration puffs (2.7 vs. 2.3 s, p .05), puffs with lower flow rate (10.3 vs. 12.6 L-min, p .01), and less time between puffs (8.0 vs. 12.4 s, p .001). Conclusion: The puff topography of waterpipe tobacco smokers can be predicted by LWDS-11 score, with those scoring higher taking longer duration and lower velocity puffs at a higher frequency. These behavioral differences may underlie the 40percent greater CO exposure observed for those with higher LWDS-11 scores. To the extent that waterpipe dependence is associated with more smoke inhalation, more dependent smokers will be exposed to greater amounts of toxic smoke constituents. © The Author 2013. Published by Oxford University Press on behalf of the Society for Research on Nicotine and Tobacco. All rights reserved.Akl EA, 2010, INT J EPIDEMIOL, V39, P834, DOI 10.1093-ije-dyq002; Al Rashidi M, 2008, FOOD CHEM TOXICOL, V46, P3546, DOI 10.1016-j.fct.2008.09.007; Alsatari ES, 2012, INT J OCCUP MED ENV, V25, P218, DOI 10.2478-S13382-012-0027-5; Blank MD, 2011, DRUG ALCOHOL DEPEN, V116, P102, DOI 10.1016-j.drugalcdep.2010.11.026; Eissenberg T, 2009, AM J PREV MED, V37, P518, DOI 10.1016-j.amepre.2009.07.014; Fagerstrom K, 2012, NICOTINE TOB RES, V14, P1382, DOI 10.1093-ntr-nts007; Hakim F, 2011, CHEST, V139, P775, DOI 10.1378-chest.10-1833; Hammal F, 2008, Tob Control, V17, pe3, DOI 10.1136-tc.2007.020529; Jackson D, 2008, BMC PUBLIC HEALTH, V8, DOI 10.1186-1471-2458-8-174; Jacob P, 2011, CANCER EPIDEM BIOMAR, V20, P2345, DOI 10.1158-1055-9965.EPI-11-0545; Khabour OF, 2012, INHAL TOXICOL, V24, P667, DOI 10.3109-08958378.2012.710918; Khabour OF, 2011, ENVIRON MOL MUTAGEN, V52, DOI 10.1002-em.20601; Maziak W, 2008, ADDICTION, V103, P1763, DOI 10.1111-j.1360-0443.2008.02327.x; Neergaard J, 2007, NICOTINE TOB RES, V9, P987, DOI 10.1080-14622200701591591; Parna K, 2008, BMC PUBLIC HEALTH, V8, DOI 10.1186-1471-2458-8-392; Poyrazoglu S, 2010, UPSALA J MED SCI, V115, P210, DOI 10.3109-03009734.2010.487164; Primack BA, 2013, NICOTINE TOB RES, V15, P29, DOI 10.1093-ntr-nts076; Raad D, 2011, CHEST, V139, P764, DOI 10.1378-chest.10-0991; Radwan G, 2013, NICOTINE TOB RES, V15, P130, DOI 10.1093-ntr-nts099; Rastam S, 2011, ADDICT BEHAV, V36, P555, DOI 10.1016-j.addbeh.2011.01.021; Salameh P, 2008, NICOTINE TOB RES, V10, P149, DOI 10.1080-14622200701767753; Saleh R, 2008, FOOD CHEM TOXICOL, V46, P1461, DOI 10.1016-j.fct.2007.12.007; Shaikh R B, 2008, J Prev Med Hyg, V49, P101; Shihadeh A, 2005, FOOD CHEM TOXICOL, V43, P655, DOI 10.1016-j.fct.2004.12.013; Shihadeh A, 2012, FOOD CHEM TOXICOL, V50, P1494, DOI 10.1016-j.fct.2012.02.041; WALD NJ, 1981, THORAX, V36, P366, DOI 10.1136-thx.36.5.366; Ward KD, 2005, NICOTINE TOB RES, V7, P149, DOI 10.1080-14622200412331328402; Zielińska-Danch Wioleta, 2010, Przegl Lek, V67, P103313
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants : findings from the international SF1next study
No full textBackground Oligogenic inheritance has been suggested as a possible mechanism to explain the broad phenotype observed in individuals with differences of sex development (DSD) harbouring NR5A1/SF-1 variants. Methods We investigated genetic patterns of possible oligogenicity in a cohort of 30 individuals with NR5A1/SF-1 variants and 46,XY DSD recruited from the international SF1next study, using whole exome sequencing (WES) on family trios whenever available. WES data were analysed using a tailored filtering algorithm designed to identify rare variants in DSD and SF-1-related genes. Identified variants were subsequently tested using the Oligogenic Resource for Variant Analysis (ORVAL) bioinformatics platform for a possible combined pathogenicity with the individual NR5A1/SF-1 variant. Findings In 73% (22/30) of the individuals with NR5A1/SF-1 related 46,XY DSD, we identified one to seven additional variants, predominantly in known DSD-related genes, that might contribute to the phenotype. We found identical variants in eight unrelated individuals with DSD in DSD-related genes (e.g., TBCE, FLNB, GLI3 and PDGFRA) and different variants in eight genes frequently associated with DSD (e.g., CDH23, FLNB, GLI2, KAT6B, MYO7A, PKD1, SPRY4 and ZFPM2) in 15 index cases. Our study also identified combinations with NR5A1/SF-1 variants and variants in novel candidate genes. Interpretation These findings highlight the complex genetic landscape of DSD associated with NR5A1/SF-1, where in several cases, the use of advanced genetic testing and filtering with specific algorithms and machine learning tools revealed additional genetic hits that may contribute to the phenotype. Funding Swiss National Science Foundation and Boveri Foundation Zurich. Copyright (c) 2025 The Author(s). Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).Background Oligogenic inheritance has been suggested as a possible mechanism to explain the broad phenotype observed in individuals with differences of sex development (DSD) harbouring NR5A1/SF-1 variants. Methods We investigated genetic patterns of possible oligogenicity in a cohort of 30 individuals with NR5A1/SF-1 variants and 46,XY DSD recruited from the international SF1next study, using whole exome sequencing (WES) on family trios whenever available. WES data were analysed using a tailored filtering algorithm designed to identify rare variants in DSD and SF-1-related genes. Identified variants were subsequently tested using the Oligogenic Resource for Variant Analysis (ORVAL) bioinformatics platform for a possible combined pathogenicity with the individual NR5A1/SF-1 variant. Findings In 73% (22/30) of the individuals with NR5A1/SF-1 related 46,XY DSD, we identified one to seven additional variants, predominantly in known DSD-related genes, that might contribute to the phenotype. We found identical variants in eight unrelated individuals with DSD in DSD-related genes (e.g., TBCE, FLNB, GLI3 and PDGFRA) and different variants in eight genes frequently associated with DSD (e.g., CDH23, FLNB, GLI2, KAT6B, MYO7A, PKD1, SPRY4 and ZFPM2) in 15 index cases. Our study also identified combinations with NR5A1/SF-1 variants and variants in novel candidate genes. Interpretation These findings highlight the complex genetic landscape of DSD associated with NR5A1/SF-1, where in several cases, the use of advanced genetic testing and filtering with specific algorithms and machine learning tools revealed additional genetic hits that may contribute to the phenotype. Funding Swiss National Science Foundation and Boveri Foundation Zurich. Copyright (c) 2025 The Author(s). Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).A
