A homozygote TREX1 mutation in two siblings with different phenotypes: Chilblains and cerebral vasculitis

Three prime repair exonuclease 1 degrades single and double stranded DNA with 3′-5′ nuclease activity and its mutations are related to type 1 IFN mediated autoinflammation due to accumulated intracellular nucleic acids. To date, several cases of systemic lupus erythematosus, Aicardi-Goutieres syndrome, familial chilblain lupus, retinal vasculopathy-cerebral leukodystrophy have been reported with TREX1 mutations.Chilblain lupus is a skin disease characterized by blue-reddish coloring, swelling or ulcers on acral regions of body such as fingertips, heels, nose and auricles. Central nervous system vasculitis is a prominent cause of childhood strokes.10 families with familial chilblain lupus related to TREX1 mutations were reported previously in the literature, in which homozygote D18N variant in TREX1 gene was related to chilblains with cerebral vasculitis.In this report, whole-exome-sequencing revealed a homozygote R114C mutation in TREX1 gene was shown in two siblings with recurrent chilblains whom one of them was the second case accompanied by cerebral vasculitis in the literature. As a result, the approach of WES in clinical use revealed a novel mutation in clinically heterogenous patients to provide genetic counseling.     

EFNS guidelines on diagnosis and management of neuromyelitis optica

Background and purpose: Neuromyelitis optica (NMO) or Devic′s disease is a rare inflammatory and demyelinating autoimmune disorder of the central nervous system (CNS) characterized by recurrent attacks of optic neuritis (ON) and longitudinally extensive transverse myelitis (LETM), which is distinct from multiple sclerosis (MS). The guidelines are designed to provide guidance for best clinical practice based on the current state of clinical and scientific knowledge. Search strategy: Evidence for this guideline was collected by searches for original articles, case reports and meta‐analyses in the MEDLINE and Cochrane databases. In addition, clinical practice guidelines of professional neurological and rheumatological organizations were studied. Results: Different diagnostic criteria for NMO diagnosis [Wingerchuk et al. Revised NMO criteria, 2006 and Miller et al. National Multiple Sclerosis Society (NMSS) task force criteria, 2008] and features potentially indicative of NMO facilitate the diagnosis. In addition, guidance for the work‐up and diagnosis of spatially limited NMO spectrum disorders is provided by the task force. Due to lack of studies fulfilling requirement for the highest levels of evidence, the task force suggests concepts for treatment of acute exacerbations and attack prevention based on expert opinion. Conclusions: Studies on diagnosis and management of NMO fulfilling requirements for the highest levels of evidence (class I–III rating) are limited, and diagnostic and therapeutic concepts based on expert opinion and consensus of the task force members were assembled for this guideline.     

Basal and residual lower esophageal pressures increase in old age in classic achalasia,but not vigorous achalasia

Background and Aim: The relationship between age and esophageal motility parameters (i.e. basal and residual pressure of the lower esophageal sphincter [LES]) remains to be established in achalasia patients, possibly because most previous studies did not distinguish between classic and vigorous achalasia patients. We investigated the relationship between age and esophageal motility parameters in both classic and vigorous achalasia patients. Methods: A retrospective review of esophageal manometry data in a single center was undertaken. Basal and residual pressure for LES was analyzed. A total of 103 achalasia patients were enrolled, comprising 84 classic and 19 vigorous types. They were subdivided into three different age groups as follows: 21–40 years old (group A), 41–60 years old (group B), and over 60 years old (group C). Results: In classic achalasia patients (M : F = 27:57, mean age = 44 ± 15 years old) the older age group showed a significantly higher basal LES pressure (49.62 ± 19.63 mmHg) than the younger age group (P < 0.0001). Moreover, the older age group also showed significantly high residual LES pressure (20.46 ± 8.61 mmHg) than the younger age group (P = 0.0006). In contrast, in vigorous achalasia patients (M : F = 12:7, mean age: 47 ± 15 years old) there were no difference between age and motility indices (all P > 0.05). Conclusion: In classic achalasia patients there appears to be a correlation between age and esophageal motility indices, especially basal and residual LES pressure. Such correlations do not appear to exist for vigorous achalasia patients.     

Advance of autophagy in chronic kidney diseases

Autophagy, a highly conserved mechanism for cell survival, emerges as an important pathway in many biological processes and diseases conditions. Studies of cultured renal cells, human kidney tissues and experimental animal models implicate that autophagy regulation is the critical aspects in chronic kidney diseases (CKD). Here, we summarize the current studies on the role of autophagy in CKD. Unveiling the precise regulation mechanism of autophagy in CKD is essential for developing potential prevention, diagnostic and therapeutic targets of these sticky clinical challenges.     

Pseudoxanthoma Elasticum: A Streamlined,Ethnicity‐based Mutation Detection Strategy

Pseudoxanthoma elasticum (PXE), an autosomal recessive multisystem disorder, is caused by mutations in the ABCC6 gene, and approximately 300 distinct mutations representing >1,000 mutant alleles have been disclosed thus far. Few population‐based studies have reported mutational hotspots in some geographic areas. In this study, we attempted to correlate recurring mutations with the individuals’ ethnic origin. Specifically, we plotted our international database of 70 families from distinct or mixed ethnic backgrounds against their mutations. The frequent p.R1141X mutation was distributed widely across Europe, while deletion of exons 23–29 (del23–29) was encountered in Northern Europe and in Northern Mediterranean countries. p.R1138W may be a marker for French descent, evidenced by its presence also in French Canadians. The splice site transition mutation 3736–1G→A was seen in the neighboring countries Greece and Turkey, whereas 2542 delG occurs only in the Japanese. Two mutations seem to be present worldwide without evidence of a founder effect, p.Q378X and p.R1339C, suggesting the presence of mutational hotspots. Knowledge of this distribution will allow us to streamline mutation screening through a targeted, stepwise approach when the ethnicity of a patient is known. This will facilitate the identification of individuals at risk, improving their care to prevent ophthalmological and vascular disease. Clin Trans Sci 2010; Volume 3: 295–298     

Classification of anemia for gastroenterologists

Most anemia is related to the digestive system by dietary deficiency, malabsorption, or chronic bleeding. We review the World Health Organization definition of anemia, its morphological classification （microcytic, macrocytic and normocytic） and pathogenic classification （regenerative and hypo regenerative）, and integration of these classifications. Interpretation of laboratory tests is included, from the simplest （blood count, routine biochemistry） to the more specific （iron metabolism, vitamin B12, folic acid, reticulocytes, erythropoietin, bone marrow examination and Schilling test）, in the text and various algorithms, we propose a hierarchical and logical way to reach a diagnosis as quickly as possible, by properly managing the medical interview, physical examination, appropriate laboratory tests, bone marrow examination, and other complementary tests. The prevalence is emphasized in all sections so that the gastroenterologist can direct the diagnosis to the most common diseases, although the tables also include rare diseases. Digestive diseases potentially causing anemia have been studied in preference, but other causes of anemia have been included in the text and tables. Primitive hematological diseases that cause anemia are only listed, but are not discussed in depth. The last section is dedicated to simplifying all items discussed above, using practical rules to guide diagnosis and medical care with the greatest economy of resources and time.     

Young Women's Beliefs About the Terms Sexually Transmitted Disease and Sexually Transmitted Infection

Objective: To determine whether young women differentiate between the terms sexually transmitted disease and sexually transmitted infection and if they do whether their reasons are consistent with those of health care providers.
Design: Secondary analysis of cross-sectional, survey data.
Setting: Four women's health clinics and one university classroom.
Patient/Participants: Three hundred and two women aged 18 to 24.
Methods: The women completed a survey that measured beliefs about seven sexually transmitted diseases, a demographic and sexually transmitted disease health information questionnaire, and a single item assessing whether the terms sexually transmitted disease and sexually transmitted infection were interchangeable.
Results: Fifty-seven percent ( n =155) responded that sexually transmitted disease and sexually transmitted infection do not mean the same thing, 28% ( n =76) responded that sexually transmitted disease and sexually transmitted infection mean the same thing, and 15% ( n =42) responded they do not know. Beliefs about sexually transmitted disease stigma and symptoms were not related to sexually transmitted disease terminology; beliefs about curability were related but not in the hypothesized direction.
Conclusions: A majority of the young women do differentiate between the terms sexually transmitted disease and sexually transmitted infection; however, the rationale for doing so is not consistent with the rationale used by health care providers. Professionals should clarify their use of the terms sexually transmitted disease and sexually transmitted infection when talking with patients as a means to improve health communication and subsequently improve sexually transmitted disease health care.     

Characteristics of cytomegalovirus enterocolitis in patients with or without inflammatory bowel diseases

Objectives: Cytomegalovirus (CMV) disease is more common in immunocompromised patients but may occur in people with normal immune function. In addition, CMV enterocolitis can aggravate inflammatory bowel diseases (IBD), but there was little knowledge of differences in clinical and endoscopic features of CMV enterocolitis between patients with IBD and without IBD. The aim of this study was to determine the difference in clinical implication in CMV enterocolitis between the IBD patients and non-IBD patients.

Methods: This was a retrospective study of 82 patients with CMV enterocolitis based on the pathologic findings at two tertiary referral hospitals from 2003 to 2013. Clinical and endoscopic characteristics and clinical course were analyzed according to the presence of IBD.

Results: Of the 82 patients, 25 (30.5%) had IBD and 57 (69.5%) did not have IBD. Hematochezia was more common in IBD patients (84.0% vs. 35.1%; p = .001), but fever and positive CMV antigenemia were more common in non-IBD patients (50.9% vs. 12.0%; p = .001; 54.4% vs. 28.0; p = .027). Endoscopic findings showed more ulcer with inflammation in IBD patients (68.0% vs. 35.2%; p = .005). Sixty-four patients were treated with antiviral agents and 12 patients who did not receive antiviral agents recovered spontaneously. All naturally healed patients were in normal immune status.

Conclusions: Hematochezia is more common in IBD patients and fever/CMV antigenemia is more common in patients without IBD. In patients without IBD, the natural resolution of CMV enterocolitis is expected at least in normal immune function.     

暗娼行为学及主要STD的感染状况调查

目的　了解强制状态下暗娼的行为学特征及主要性传播疾病 (STD)的感染状况 ,为实施有效的干预措施提供信息。方法　对劳教所内 30 4名暗娼进行匿名问卷调查和血标本采集 ,对入所 <1个月的 5 0名暗娼另取宫颈分泌物。结果　 (1)调查对象平均年龄 2 9 7± 7 3岁 ,卖淫 <1年占 73 9% ;卖淫时从不使用安全套的占 34 8% ,最后一次性交对象 85 3%来自丈夫 /男友、情人和固定性伴侣 ,而最后一次安全套使用率仅 4 6 7%。 (2 )淋球菌、梅毒螺旋体、沙眼衣原体的感染率分别是 4 0 %、31 1%、18 0 % ,未发现艾滋病病毒 (HIV)感染者。结论　暗娼存在高危性行为 ,应尽快推广针对娱乐场所小姐的STD/艾滋病 (AIDS)干预项目 ,以阻断AIDS/STD经性途径传播。