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Chandler Holst posted an update 3 weeks, 5 days ago
BACKGROUND Two loci (CHD7 and SOX10) underlying Kallmann syndrome (KS) were discovered through clinical and genetic analysis of CHARGE and Waardenburg syndromes, conditions that include congenital anosmia caused by olfactory bulb defects (CA/OBs) and congenital hypogonadotropic hypogonadism (CHH). We hypothesized that other candidate genes for KS could be discovered by analyzing rare syndromes presenting with these signs. STUDY DESIGN, SIZE, DURATION We first investigated a family with Gorlin-Goltz syndrome (GGS) in which affected members exhibited clinical signs suggesting KS. PARTICIPANTS/MATERIALS, METHODS Proband and family members underwent detailed clinical assessment. The proband received detailed neuroendocrine evaluation. Genetic analyses included sequencing the PTCH1 gene at diagnosis, followed by exome analyses of causative or candidate KS/CHH genes, in order to exclude contribution to the phenotypes of additional mutations. GCN2iB Exome analyses in additional 124 patients with KS/CHH probands with no add. CONCLUSION This family suggests that the two main signs of KS can be included in GGS associated with PTCH1 mutations. Our data combined with mice models suggest that PTCH1 could be a novel candidate gene for KS/CHH and reinforce the role of the Hedgehog signaling pathway in pathophysiology of KS and GnRH neuron migration. © 2020 S. Karger AG, Basel.INTRODUCTION Weight stigmatization is reflected in anti-fat attitudes and stereotypical perceptions of people who are overweight; it has been demonstrated to be prevalent in many segments of society across multiple countries. Studies examining the prevalence of weight stigmatization use different research tools, which can hinder inter-study comparisons. There is also evidence indicating weight stigmatization among registered physical therapists, although its magnitude differs between studies. Limited information exists regarding the attitudes and beliefs of physical therapy (PT) students toward individuals with obesity. Examining weight stigmatization among PT students is particularly important for developing appropriate educational interventions that may influence the professional lives of future physical therapists. OBJECTIVE This study aims to characterize and compare the stigmatizing attitudes and beliefs of PT students and certified physical therapists regarding people with obesity in Israel. Its secondaasel.OBJECTIVE Previous studies have reported that propofol has anti-tumor, anti-inflammatory, and anti-oxidative effects in addition to its anesthetic properties. To confirm this, a retrospective investigation was conducted to determine whether different anesthetic agents-in particular, propofol and inhalation anesthetic agent-have an effect on the recurrence of hepatocellular carcinoma (HCC) in patients who were diagnosed with primary HCC and underwent laparoscopic hepatectomy. SUBJECTS AND METHODS Patients with Barcelona Clinic Liver Cancer stages 0, A, and B HCC, who underwent laparoscopic hepatic resection, were enrolled in this study. Postoperative HCC recurrence, which was determined from postoperative liver computed tomography, was evaluated for 24 months postoperatively according to the main anesthetic agents. The characteristics of HCC and other patient- or surgery-related variables were evaluated together. RESULTS AND CONCLUSION During a 24-month period after hepatic resection, there was less recurrence of HCC in the propofol group than in the inhalation group (P = 0.046). The mean time to recurrence was 20.8 months (95% CI, 19.7-22.0) and 19.1 months (95% CI, 17.8-20.4) in the propofol and the inhalation group, respectively. In addition, multivariable Cox proportional regression analysis revealed that the propofol group showed significantly decreased recurrence rate than did the inhalation group (hazard ratio, 0.57; 95% CI, 0.47-0.69; P = 0.029). When propofol had been used as the main general anesthetic agent for laparoscopic hepatic resection, the postoperative two-year recurrence rate had decreased in early- and intermediate-stage HCC. © 2020 The Author(s). Published by S. Karger AG, Basel.INTRODUCTION Following the digital progress and the availability of online streaming services, binge-watching (in the literature often defined as watching >2 episodes of a TV series in one sitting) has become a popular viewing pattern. Concerns about possible negative consequences of this behaviour have arisen and its proximity to behavioural addictions is discussed. The aim of the present study was to explore how depressive symptoms, impulsivity and their potential interaction are related to the consequences of binge-watching. In addition, the possible association of the Big 5 personality traits neuroticism, conscientiousness, extraversion, agreeableness, and openness with consequences from binge-watching was assessed. METHOD An online survey including the assessment of intensity of and negative consequences from binge-watching (with an adapted version of the Short-Internet-Addiction Test and a newly developed questionnaire) and questionnaires on depressive symptoms (i.e., General Depression Scale), impulsivity (i.e., Barratt Impulsiveness Scale) and personality traits (i.e., short version of the Big 5 Inventory) was completed by 228 participants. RESULTS Regression analysis indicated that impulsivity was associated with loss of control and neglect of duties, while depressive symptoms led to neglect of duties and social problems. No significant interaction effects were observed. Conscientiousness was the only personality trait that explained a significant proportion of the variance of consequences from binge-watching. DISCUSSION/CONCLUSION Our findings suggest that depressive symptoms and impulsivity are 2 independent pathways to negative consequences from binge watching. However, given the rather low proportion of variance proportion explained, future studies are warranted to enhance our understanding of other individual characteristics and to further clarify the proximity to behavioural addictions. © 2020 S. Karger AG, Basel.Pathologies involving the pituitary stalk are generally revealed by the presence of diabetes insipidus (DI). The availability of MRI provides a major diagnostic contribution by enabling visualization of the site of the culprit lesion, especially when it is small. However, when only an enlarged pituitary stalk is found, the etiological workup may be difficult, particularly because the biopsy of the stalk is difficult, harmful and often not contributive. The pathological proof of the etiology thus needs to be obtained indirectly. The aim of this article was to provide an accurate review of the literature about pituitary stalk enlargement in adults describing the differences between the numerous etiologies involved and consequent different diagnostic approaches. The etiological diagnostic procedure begins with the search for possible other lesions suggestive of histiocytosis, sarcoidosis, tuberculosis or other etiologies elsewhere in the body that could be more easily biopsied. We usually perform neck, thorax, abdomen, and pelvis CT scan; PET scan; bone scan; or other imaging methods when we suspect generalized lesions.