Dysphagia,an unrecognized handicap

The aim of this study was to examine whether esophageal dysphagia can be described as a handicap and to grade the severity of handicap as the discrepancy between the subject's own eating goals and his or her eating disability. The severity of the disability-goal-handicap (DGH) regarding dysphagia was expressed on a scale ranging from 0 to 48 points. Nineteen patients with dysphagia of differing causes were selected from a patient register at a laboratory for diagnostic procedures of the esophagus. The severity of handicap for the 19 patients was, on average, 33 points (range, 20–44). The DGH score correlated significantly with the patients' own evaluation of the severity of their dysphagia (p=0.008). The DGH scores did not differ markedly based on patient's sex, age, or cause of dysphagia. Patients who were operated upon because of dysphagia had significantly more points on the DGH scale prior to operation than patients who were not (p=0.001). Denial of dysphagia (N=18), concealment of dysphagia (N=18), and lack of confirmation by the patient's physician (N=15) were common but did not influence the severity of handicap as assessed by the DGH scale. It was shown that dysphagia affects all aspects of life as expressed by reduction in self-esteem (N=13), security (N=16), work capacity (N=8), exercise (N=7), and leisure time (N=6). Esophageal dysphagia may therefore be regarded as a handicap when assessed using the DGH code described in this study.     

Is mis-swallowing or smoking a cause of respiratory symptoms in patients with gastroesophageal reflux disease?

Respiratory symptoms were studied in 119 patients operated on for fundoplication and crural repair because of gastroesophageal reflux disease (GERD). The effect of antireflux surgery and of smoking habits on their respiratory symptoms was evaluated. A questionnaire was completed before and after surgery in connection with esophageal investigations. Chronic bronchitis was present in 20% of the patients, 38% of whom were smokers. In the rest of the patients, 18% were smokers. Cough was reported by 34% and expectoration by 21%. After surgery the number of patients with cough and chronic bronchitis was reduced significantly in nonsmokers and to some extent in smokers. It is believed that fundoplication with distal anchoring of the longitudinal esophageal muscle will improve pharyngoesophageal function and thereby decrease aspiration and respiratory symptoms due to mis-swallowing.     

A GCH1 haplotype confers sex‐specific susceptibility to pain crises and altered endothelial function in adults with sickle cell anemia

GTP cyclohydrolase (GCH1) is rate limiting for tetrahydrobiopterin (BH4) synthesis, where BH4 is a cofactor for nitric oxide (NO) synthases and aromatic hydroxylases. GCH1 polymorphisms are implicated in the pathophysiology of pain, but have not been investigated in African populations. We examined GCH1 and pain in sickle cell anemia where GCH1 rs8007267 was a risk factor for pain crises in discovery (n = 228; odds ratio [OR] 2.26; P = 0.009) and replication (n = 513; OR 2.23; P = 0.004) cohorts. In vitro, cells from sickle cell anemia subjects homozygous for the risk allele produced higher BH4. In vivo physiological studies of traits likely to be modulated by GCH1 showed rs8007267 is associated with altered endothelial dependent blood flow in females with SCA (8.42% of variation; P = 0.002). The GCH1 pain association is attributable to an African haplotype with where its sickle cell anemia pain association is limited to females (OR 2.69; 95% CI 1.21–5.94; P = 0.01) and has the opposite directional association described in Europeans independent of global admixture. The presence of a GCH1 haplotype with high BH4 in populations of African ancestry could explain the association of rs8007267 with sickle cell anemia pain crises. The vascular effects of GCH1 and BH4 may also have broader implications for cardiovascular disease in populations of African ancestry. Am. J. Hematol. 89:187–193, 2014. © 2013 Wiley Periodicals, Inc.     

Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature

The main factor influencing the sex determination of an embryo is the genetic sex determined by the presence or absence of the Y chromosome. However, some individuals carry a Y chromosome but are phenotypically female (46,XY females) or have a female karyotype but are phenotypically male (46,XX males). 46,XX maleness is a rare sex reversal syndrome affecting 1 in 20,000 newborn males. Molecular analysis of sex-reversed patients led to the discovery of the SRY gene (sex-determining region on Y). The presence of SRY causes the bipotential gonad to develop into a testis. The majority of 46, SRY-positive XX males have normal genitalia; in contrast SRY-negative XX males usually have genital ambiguity. A small number of SRY-positive XX males also present with ambiguous genitalia. Phenotypic variability observed in 46,XX sex reversed patients cannot be explained only by the presence or absence of SRY despite the fact that SRY is considered to be the major regulatory factor for testis determination. There must be some other genes either in the Y or other autosomal chromosomes involved in the definition of phenotype. In this article, we evaluate four patients with 46,XX male syndrome with various phenotypes. Two of these cases are among the first reported to be diagnosed prenatally.     

More efficient exchange of sickle red blood cells can be achieved by exchanging the densest red blood cells: An ex vivo proof of concept study

Background

In sickle cell disease (SCD), red blood cells (RBCs) containing hemoglobin S can be denser than RBCs containing wild-type hemoglobin, especially when dehydrated. We hypothesize that targeting denser RBCs during red blood cell (RBC) exchange for SCD could result in more efficient removal of dehydrated, sickled RBCs and preservation of non-sickled RBCs.

丙型肝炎病毒蛋白酶抑制剂研发现状分析

为全面系统地了解国内外丙型肝炎病毒NS3/4A蛋白酶抑制剂的研发现状,笔者调研了国内外处于临床研究阶段和已上市的蛋白酶抑制剂.目前仅有2种丙型肝炎病毒NS3/4A蛋白酶抑制剂上市,即2011年美国食品和药物管理局批准的Vertex公司研发的药物Telaprevir和默克公司研发的药物Boceprevir.Telaprevir和Boceprevir需与目前的丙型病毒性肝炎标准疗法联合使用,临床治愈率高于标准疗法,Telaprevir的临床效果略微优于Boceprevir.部分处于临床开发状态的第2代蛋白酶抑制剂与Telaprevir和Boceprevir相比,在安全性、耐受性、服用便利性、疗效上更胜一筹.     

Examining attitudes, beliefs and knowledge of effective practices in psychiatric rehabilitation in a hospital setting

OBJECTIVE: This brief report presents a staff training program based on psychiatric rehabilitation principles used in a hospital setting. The training program intervention significantly promoted the belief that mental illness does not necessarily limit functioning and also improved awareness of research findings, evidence-based practices and community services. METHODS: A randomized controlled study assessed the impact of the program on the staff's attitudes regarding psychiatric rehabilitation and recovery. RESULTS: Findings suggest that in-service training programs within a hospital setting can change staff attitudes in order to support psychiatric rehabilitation. CONCLUSIONS: A psychiatric rehabilitation forum, made up of representatives from all disciplines, including the medical directors of every ward, was set up in the hospital following the training program and has become the main avenue to disseminate information, messages, and goals to the staff at large and to the hospital administration. It is the forum that creates the shared vision about psychiatric rehabilitation within the hospital and has the task of facilitating implementation of services according to that vision.     

Foreign bodies in the esophagus. A study of causative factors

Two hundred and twenty-nine patients were studied in an attempt to determine the main causative factors behind their having a residual foreign body in the esophagus. Strictures were present in 13%. Fifty-two percent of the patients with stricture had been hospitalized more than once for treatment of foreign body impaction; this was the case in only 8.5% of the rest of the patients (p<0.001). More than half of the patients aged 15 years or younger had a foreign body in the hypopharynx. This location was extremely uncommon in adults (p<0.001). The hypothesis of spasm distal to an esophageal foreign body as the cause for obstruction in patients without esophageal stricture was supported by the following findings: spontaneous disimpaction occurred in more than one-third of the patients and became more frequent as time progressed; 63% of 16 patients given spasmolytic drugs experienced spontaneous disimpaction of the foreign body; half of the patients had the foreign body in the proximal esophagus distal to the narrower passage of the upper esophageal sphincter; foreign body impaction in the esophagus turned out to be a once-only event in 86% of the patients; and 21% of the patients had a disorder of the central nervous system and had been hospitalized significantly more often because of food impaction than the other patients. The findings indicate that adults with a history of impaction of foodstuff lacking sharp bones and who do not have stricture suffer food impaction because of spasm of the esophageal smooth muscle, and can be treated accordingly.