Turner syndrome and associated problems in turkish children: A multicenter study

Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosi) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto’s thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan. © Journal of Clinical Research in Pediatric Endocrinology

Solitary and cnoidal wave scattering by a submerged horizontal plate in shallow water

Solitary and cnoidal wave transformation over a submerged, fixed, horizontal rigid plate is studied by use of the nonlinear, shallow-water Level I Green-Naghdi (GN) equations. Reflection and transmission coefficients are defined for cnoidal and solitary waves to quantify the nonlinear wave scattering. Results of the GN equations are compared with the laboratory experiments and other theoretical solutions for linear and nonlinear waves in intermediate and deep waters. The GN equations are then used to study the nonlinear wave scattering by a plate in shallow water. It is shown that in deep and intermediate depths, the wave-scattering varies nonlinearly by both the wavelength over the plate length ratio, and the submergence depth. In shallow water, however, and for long-waves, only the submergence depth appear to play a significant role on wave scattering. It is possible to define the plate submergence depth and length such that certain wave conditions are optimized above, below, or downwave of the plate for different applications. A submerged plate in shallow water can be used as a means to attenuate energy, such as in wave breakers, or used for energy focusing, and in wave energy devices

The psychosocial impact of home use medical devices on the lives of older people: a qualitative study

Background Increased life expectancy and the accompanying prevalence of chronic conditions have led to the focus and delivery of health care migrating from the hospital and into people’s homes. While previous studies have investigated the integration of particular types of medical devices into the home, it was our intention to describe how medical devices are integrated into the lives of older people. Methods Adopting a qualitative study design, 12 older people, who used medical devices in the home, took part in in-depth, semi structured interviews. In 7 of the interviews participants and their partners were interviewed together. These interviews were recorded, transcribed and analysed thematically. Results Two themes were constructed that describe how medical devices that are used in the home present certain challenges to older people and their partners in how the device is adopted and the personal adaptations that they are required to make. The first theme of 'self-esteem’ highlighted the psychological impact on users. The second theme of 'the social device' illustrated the social impact of these devices on the user and the people around them. Conclusions We found that these devices had both a positive and negative psychosocial impact on users’ lives. An improved understanding of these psychological and social issues may assist both designers of medical devices and the professionals who issue them to better facilitate the integration of medical devices into the homes and lives of older people

Longitudinal Auxological recovery in a cohort of children with Hyperinsulinaemic Hypoglycaemia

Background: Hypoglycaemia due to hyperinsulinism (HI) is the commonest cause of severe, recurrent hypoglycaemia in childhood. Cohort outcomes of HI remain to be described and whilst previous follow up studies have focused on neurodevelopmental outcomes, there is no information available on feeding and auxology. Aim: We aimed to describe HI outcomes for auxology, medications, feeding and neurodevelopmental in a cohort up to age 5 years. Method: We reviewed medical records for all patients with confirmed HI over a three-year period in a single centre to derive a longitudinal dataset. Results: Seventy patients were recruited to the study. Mean weight at birth was - 1.0 standard deviation scores (SDS) for age and sex, while mean height at 3 months was - 1.5 SDS. Both weight and height trended to the population median over the follow up period. Feeding difficulties were noted in 17% of patients at 3 months and this reduced to 3% by 5 years. At age 5 years, 11 patients (15%) had neurodevelopmental delay and of these only one was severe. Resolution of disease was predicted by lower maximum early diazoxide dose (p = 0.007) and being born SGA (p = 0.009). Conclusion: In a three-year cohort of HI patients followed up for 5 years, in spite of feeding difficulties and carbohydrate loading in early life, auxology parameters are normal in follow up. A lower than expected rate of neurodevelopmental delay could be attributed to prompt early treatment.This article is freely available via Open Access. Click on the Publisher URL to access it via the publisher's site.The study was supported by the Northern Congenital Hyperinsulinism (NORCHI) charitable fund, by the Manchester Academic Health Sciences Centre and by The University of Manchester MRC Confidence in Concept (CiC) Award (MC_PC_18056). KEC was funded by a Research Councils UK Academic Fellowship (https://www.ukri.org/). SEF has a Sir Henry Dale Fellowship jointly funded by the Wellcome Trust and the Royal Society (105636/Z/14/Z).published version, accepted versio

Emotional design and human-robot interaction

Recent years have shown an increase in the importance of emotions applied to the Design field - Emotional Design. In this sense, the emotional design aims to elicit (e.g., pleasure) or prevent (e.g., displeasure) determined emotions, during human product interaction. That is, the emotional design regulates the emotional interaction between the individual and the product (e.g., robot). Robot design has been a growing area whereby robots are interacting directly with humans in which emotions are essential in the interaction. Therefore, this paper aims, through a non-systematic literature review, to explore the application of emotional design, particularly on Human-Robot Interaction. Robot design features (e.g., appearance, expressing emotions and spatial distance) that affect emotional design are introduced. The chapter ends with a discussion and a conclusion.info:eu-repo/semantics/acceptedVersio

Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families

PubMedID: 25262569Objective: The spectrum of genetic alterations in cases of hypogonadotropic hypogonadism continue to expand. However, KISS1R mutations remain rare. The aim of this study was to understand the molecular basis of normosmic idiopathic hypogonadotropic hypogonadism. Methods: Clinical characteristics, hormonal studies and genetic analyses of seven cases with idiopathic normosmic hypogonadotropic hypogonadism (nIHH) from three unrelated consanguineous families are presented. Results: One male presented with absence of pubertal onset and required surgery for severe penoscrotal hypospadias and cryptorchidism, while other two males had absence of pubertal onset. Two of four female cases required replacement therapy for pubertal onset and maintenance, whereas the other two had spontaneous pubertal onset but incomplete maturation. In sequence analysis, we identified a novel homozygous nonsense (p.Y323X) mutation (c.C969A) in the last exon of the KISS1R gene in all clinically affected cases. Conclusions: We identified a homozygous nonsense mutation in the KISS1R gene in three unrelated families with nIHH, which enabled us to observe the phenotypic consequences of this rare condition. Escape from nonsense-mediated decay, and thus production of abnormal proteins, may account for the variable severity of the phenotype. Although KISS1R mutations are extremely rare and can cause a heterogeneous phenotype, analysis of the KISS1R gene should be a part of genetic analysis of patients with nIHH, to allow better understanding of phenotype-genotype relationship of KISS1R mutations and the underlying genetic basis of patients with nIHH. © 2014 John Wiley & Sons Ltd

Serum C-Reactive Protein, Erythrocyte Sedimentation Rate, and White Blood Cell Count in Romanov Sheep with Infectious Keratoconjunctivitis

ΔΕΝ ΥΠΑΡΧΕΙ ΠΕΡΙΛΗΨΗThis study aimed to evaluate the use of erythrocyte sedimentation rate (ESR), C-reactive protein (CRP) and white blood cell count (WBC) as markers of the severity of inflammation in the eyes of the Romanov breed sheep with infectious keratoconjunctivitis. A total of 10 Romanov breed sheep between the 1.5 and 2 years of age, including the ones carrying infectious keratoconjunctivitis (G1, n = 5) and healthy ones (G2, n = 5), which were housed under the same care and nutrition conditions were examined, in a sheep breeding enterprise within the boundaries of Siirt province. Staphylococcus aureus sp., Clostridium spp., and Penicillium spp. were detected based on the microscopic morphology of the colonies in swabs collected from the eyes of sick animals. Biochemical tests were performed relevant to the suspected agents while no growth was detected in the swabs of the control group. There was a statistically significant difference in serum CRP and WBC levels between the G1 and G2 groups (p<0.05). No statistically significant difference was found between the values of the other parameters tested. Higher levels of CRP and WBC were determined in sheep having infectious keratoconjunctivitis, are compared to those in healthy animals