Benign Hereditary Chorea: An Update

Benign hereditary chorea (BHC) is a childhood-onset, hyperkinetic movement disorder normally with little progression of motor symptoms into adult life. The disorder is caused by mutations to the NKX2.1 (TITF1) gene and also forms part of the “brain–lung–thyroid syndrome”, in which additional developmental abnormalities of lung and thyroid tissue are observed. In this review, we summarize the main clinical findings in “classical” BHC syndrome and discuss more recently reported atypical features, including non-choreiform movement phenotypes. We highlight additional non-motor characteristics such as cognitive impairment and psychiatric symptoms, while discussing the evidence for BHC as a developmental disorder involving impaired neural migration and other multisystem developmental abnormalities. Finally, we will discuss the efficacy of available therapies in both affected pediatric and adult cohorts. Delineation of the BHC disease spectrum will no doubt expand our understanding of this disorder, facilitating better targeting of genetic testing and establish a framework for future clinical trials

Hafnium carbide formation in oxygen deficient hafnium oxide thin films

On highly oxygen deficient thin films of hafnium oxide (hafnia, HfO$_{2-x}$) contaminated with adsorbates of carbon oxides, the formation of hafnium carbide (HfC$_x$) at the surface during vacuum annealing at temperatures as low as 600 {\deg}C is reported. Using X-ray photoelectron spectroscopy the evolution of the HfC$_x$ surface layer related to a transformation from insulating into metallic state is monitored in situ. In contrast, for fully stoichiometric HfO$_2$ thin films prepared and measured under identical conditions, the formation of HfC$_x$ was not detectable suggesting that the enhanced adsorption of carbon oxides on oxygen deficient films provides a carbon source for the carbide formation. This shows that a high concentration of oxygen vacancies in carbon contaminated hafnia lowers considerably the formation energy of hafnium carbide. Thus, the presence of a sufficient amount of residual carbon in resistive random access memory devices might lead to a similar carbide formation within the conducting filaments due to Joule heating

Liquid Crystalline Behaviour of Some Schiff Bases Derived from 4-n-Alkoxy-l-naphthaldehydes & p-(n-Amyloxy)aniline

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The use of pedicled prepucial skin flap urethroplasty for proximal bulbomembraneous urethral stricture in children: an easy alternative to transpubic urethroplasty

Objective: Pediatric urethral strictures are not uncommon, and a myriad of treatment options is available. The use of pedicled prepucial skin to augment a narrowed urethra is one of the useful methods. In this study, we describe the successful use of this technique in three children with stricture of the proximal bulbomembranous urethra.Materials and methods: In this study, we reviewed three children aged 4, 7, and 10 years, respectively, with proximal bulbomembranous urethral stricture, who were treated at Christian Medical College, Vellore, India, between 2012 and 2014, using a pedicled prepucial skin flap.Results: The mean follow-up time was 28 months (range: 20–41 months). There were no intraoperative or postoperative complications. All three children were symptom-free with a good urinary stream at last follow-up.Conclusion: The pedicled prepucial flap technique for proximal bulbomembranous urethral stricture in children is simple and easy to perform with good overall outcome.Keywords: children, prepucial flap, urethral stricture, urethroplast

Impact of breast cancer subtypes on 3-year survival among adolescent and young adult women.

IntroductionYoung women have poorer survival after breast cancer than do older women. It is unclear whether this survival difference relates to the unique distribution of hormone receptor (HR) and human epidermal growth factor receptor 2 (HER2)-defined molecular breast cancer subtypes among adolescent and young adult (AYA) women aged 15 to 39 years. The purpose of our study was to examine associations between breast cancer subtypes and short-term survival in AYA women, as well as to determine whether the distinct molecular subtype distribution among AYA women explains the unfavorable overall breast cancer survival statistics reported for AYA women compared with older women.MethodsData for 5,331 AYA breast cancers diagnosed between 2005 and 2009 were obtained from the California Cancer Registry. Survival by subtype (triple-negative; HR+/HER2-; HR+/HER2+; HR-/HER2+) and age-group (AYA versus 40- to 64-year-olds) was analyzed with Cox proportional hazards regression with follow-up through 2010.ResultsWith up to 6 years of follow-up and a mean survival time of 3.1 years (SD = 1.5 years), AYA women diagnosed with HR-/HER + and triple-negative breast cancer experienced a 1.6-fold and 2.7-fold increased risk of death, respectively, from all causes (HR-/HER + hazard ratio: 1.55; 95% confidence interval (CI): 1.10 to 2.18; triple-negative HR: 2.75; 95% CI, 2.06 to 3.66) and breast cancer (HR-/HER + hazard ratio: 1.63; 95% CI, 1.12 to 2.36; triple-negative hazard ratio: 2.71; 95% CI, 1.98 to 3.71) than AYA women with HR+/HER2- breast cancer. AYA women who resided in lower socioeconomic status neighborhoods, had public health insurance, and were of Black, compared with White, race/ethnicity experienced worse survival. This race/ethnicity association was attenuated somewhat after adjusting for breast cancer subtypes (hazard ratio, 1.33; 95% CI, 0.98 to 1.82). AYA women had similar all-cause and breast cancer-specific short-term survival as older women for all breast cancer subtypes and across all stages of disease.ConclusionsAmong AYA women with breast cancer, short-term survival varied by breast cancer subtypes, with the distribution of breast cancer subtypes explaining some of the poorer survival observed among Black, compared with White, AYA women. Future studies should consider whether distribution of breast cancer subtypes and other factors, including differential receipt of treatment regimens, influences long-term survival in young compared with older women

Marital quality in alcohol dependance syndrome: a comparative study between first time and repeatedly hospitalised patients

Background: Marital quality is considered as a significant part of social well-being. Poor marital quality adversely affects physical and mental health as well as the overall quality of life. Moreover, it can significantly affect the course of alcohol dependance syndrome. The aim this study was to compare the marital quality among patients with alcohol dependance syndrome who are admit-ted for the first time and patients with alcohol dependance syndrome (ADS) who are admitted for multiple times.Methods: The sample consisted of each 30 patients with alcohol dependance syndrome who are admitted for the first time and patients with alcohol dependance syndrome who are admitted for multiple times, diagnosed as per international classification of diseases-10 diagnostic criteria for research. The sample population was evaluated using Severity of Alcohol Dependence Questionnaire and The Marital Quality Scale. The data was analysed using SPSS-16.0.Results: The severity of alcohol dependance was found to be significantly higher in the repeatedly hospitalised group when compared to first time admitted patients with ADS (p<0.01). The repeatedly hospitalised patients are found to be having significantly poor Marital Quality in the domains of Understanding, Rejection, Satisfaction, Affection, Despair, Decision Making, Dominance, Self-Disclosure, Trust and Role Functioning, when compared to first time admitted patients (p<.001).Conclusions: How problem use of alcohol affect marital quality is not settled in research till date, though most of the studies suggest a negative correlation. There are contradictory hypotheses regarding the effects of alcohol use on marital quality. Our study showed that patients with severe degrees alcoholism and who are admitted repeatedly have poor marital quality when compared to patients with lesser severity of alcoholism and admitted for the first time in Indian context

A rare case of urethral triplication in association with tethered cord and vertebral anomalies

In this manuscript, we describe the case of a 5-year-old boy with Y triplication of the urethra in association with fatty filum terminale, tethered cord and vertebral anomalies. Unlike a Y duplication in which the penile meatus is hypoplastic, a Y triplication can have a penile meatus of adequate calibre, which can be used as a functional conduit. Most patients with urethral triplication have been found to have associated malformations. To our knowledge, this is the first reported case of urethral triplication seen in association with fatty filum terminale, tethered cord and vertebral anomalies.Keywords: rectus flap, tethered cord, urethral triplication, vertebral anomal