腓骨肌萎缩症X型临床、电生理及Connexin 32新突变一例

目的报告1例X连锁型腓骨肌萎缩症(CMTX),探讨其临床表现、电生理特点和连接蛋白32(Cx32)基因突变特点。方法对1例临床诊断CMT患者进行详细的病史采集和临床查体,分析其电生理和神经活检检查结果,同时进行周围髓鞘结构蛋白22(PMP22)基因重复和Connexin32(Cx32)基因突变检测。结果患者临床表现为经典的遗传性感觉运动神经病,肌电图检查提示脱髓鞘损害伴轴索损害,同时出现传导阻滞;神经活检示脱髓鞘性周围神经损害;基因检测发现Cx32基因编码序列第414位碱基发生单碱基错义突变(414C>G),造成其编码的第138位的氨基酸由丝氨酸突变为精氨酸(Ser138Arg)。结论 414C>G突变为Cx32基因新突变,国内外文献未见报道。该基因型没有产生特殊的临床表现,但电生理表现为脱髓鞘为主的混合性周围神经病变,且具有传导阻滞的特点。Cx32基因不同的突变位点和形式可能是导致CMTX临床异质性的原因之一。     

Oral chronic graft‐versus‐host disease: current pathogenesis,therapy, and research

Optimal management of complex autoimmune diseases requires a multidisciplinary medical team including dentists to care for lesions of the oral cavity. In this review, we discuss the presentation, prevalence, diagnosis, and treatment of oral manifestations in chronic graft‐versus‐host disease (cGVHD), which is a major late complication in patients treated by allogeneic hematopoietic stem cell transplantation. We assess current general knowledge of systemic and oral cGVHD and present general treatment recommendations based on literature review and our clinical experience. Additionally, we review areas where the understanding of oral cGVHD could be improved by further research and address tools with which to accomplish the long‐term goal of providing better health and quality of life to patients with cGVHD.     

Ovarian Lymphoma and Hydronephrosis

Introduction:

Ovarian lymphoma is a rare entity, and hydronephrosis from lymphoma is even rarer. Most reports describe a laparoscopic approach to the disease, but we report a case of hydroureteronephrosis associated with ovarian lymphoma managed completely by mini-invasive techniques.

Case Report:

A 51-year-old woman was referred to us for back pain and renal colic and computed tomography scan findings of right hydroureteronephrosis and a mass in the right mesorectum and uterosacral ligament.After magnetic resonance imaging was performed, the patient underwent laparoscopic adnexectomy and ureterolysis after ureteroscopy and stenting. Histology results showed diffuse B-cell lymphoma of the ovary occluding the ureter without infiltration. The patient has undergone 6 cycles of chemotherapy.

Discussion:

This is the first report to describe ovarian lymphoma and hydroureteronephrosis managed completely by laparoscopic surgery and endoscopy. Frequency in clinical practice, differential diagnosis, and endoscopic approach are discussed. The advantages of a multidisciplinary endoscopic team are underlined.     

A preliminary study of manipulation under anaesthesia for secondary frozen shoulder following breast cancer treatment

Introduction

The aim of this paper is to present the results of manipulation under anaesthesia (MUA) and injection of local anaesthetic and corticosteroid followed by a physiotherapy regime for secondary frozen shoulder after breast cancer treatment (surgery, radiotherapy), and to compare them with a control group.

Methods

Patients referred to the senior author for secondary frozen shoulder following breast cancer treatment over a ten-year period were investigated. Recorded data included age, treatment for breast cancer, length of symptoms, Oxford shoulder score (OSS) and range of motion before and after shoulder MUA. These data were compared with a control group of patients with frozen shoulder.

Results

A total of 263 patients were referred with 281 frozen shoulders. Of these, 7 patients (7 shoulders) had undergone previous breast cancer treatment and the remaining 256 patients (274 shoulders) formed the control group. None of the patients were diabetic. The mean preoperative OSS was 31 for the study group and 27 for the control group, improving to 43 for both groups following MUA. Forty-two per cent of the study group and fifteen per cent of the control group had a second MUA subsequently. At the long-term follow-up appointment, 71% of the study group patients were satisfied with their result.

Conclusions

The results of this preliminary study suggest that MUA, corticosteroid injection and subsequent physiotherapy have achieved good final results in a series of patients with frozen shoulder secondary to breast cancer treatment. Members of the multidisciplinary team looking after breast cancer patients should be aware of this management option and, on manifestation of this pathology, should refer the patient to an orthopaedic surgeon.     

木犀草素对重症急性胰腺炎小鼠胰腺的保护作用及可能的分子机制#br#

目的 探讨木犀草素对重症急性胰腺炎（SAP）小鼠胰腺的保护作用及其可能的分子机制。方法 将60只SPF级健康雄性C57BL/6小鼠随机分为3组,对照组、SAP模型组和治疗组,每组各20只。采用雨蛙素法构建模型,成功构建SAP模型后,应用ELASA法检测脂肪酶、淀粉酶、血红素加氧酶（HO)-1、肿瘤坏死因子（TNF）-α、丙二醛（MDA）及超氧化物歧化酶（SOD）水平。使用Western blotting和Real-time PCR测定各组小鼠核因子（NF）-κB、P38及p-P38 蛋白和mRNA水平。结果 与对照组比较,模型组和治疗组小鼠胰腺干湿重比、脂肪酶及淀粉酶、TNF-α水平、氧化应激指标HO-1及MDA水平均明显升高,SOD水平明显降低（P<0.05）;与模型组小鼠比较,治疗组小鼠胰腺干湿重比、脂肪酶及淀粉酶,TNF-α、MDA水平均明显降低,HO-1、SOD水平均明显升高（P<0.05）。与对照组比较,模型组和治疗组小鼠NF-κB、p-P38蛋白和mRNA水平明显升高（P<0.05）,P38蛋白和mRNA表达水平无显著变化（P>0.05）;与模型组小鼠比较,治疗组小鼠NF-κB、p-P38蛋白和mRNA水平均明显降低（P<0.05）。结论 木犀草素对SAP小鼠胰腺具有一定的保护作用,其可能的分子机制为缓解炎症应激和氧化应激,下调NF-κB及p-P38 蛋白的表达。     

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

Xq22 deletions that encompass PLP1 (Xq22‐PLP1‐DEL) are notable for variable expressivity of neurological disease traits in females ranging from a mild late‐onset form of spastic paraplegia type 2 (MIM# 312920), sometimes associated with skewed X‐inactivation, to an early‐onset neurological disease trait (EONDT) of severe developmental delay, intellectual disability, and behavioral abnormalities. Size and gene content of Xq22‐PLP1‐DEL vary and were proposed as potential molecular etiologies underlying variable expressivity in carrier females where two smallest regions of overlap (SROs) were suggested to influence disease. We ascertained a cohort of eight unrelated patients harboring Xq22‐PLP1‐DEL and performed high‐density array comparative genomic hybridization and breakpoint‐junction sequencing. Molecular characterization of Xq22‐PLP1‐DEL from 17 cases (eight herein and nine published) revealed an overrepresentation of breakpoints that reside within repeats (11/17, ~65%) and the clustering of ~47% of proximal breakpoints in a genomic instability hotspot with characteristic non‐B DNA density. These findings implicate a potential role for genomic architecture in stimulating the formation of Xq22‐PLP1‐DEL. The correlation of Xq22‐PLP1‐DEL gene content with neurological disease trait in female cases enabled refinement of the associated SROs to a single genomic interval containing six genes. Our data support the hypothesis that genes contiguous to PLP1 contribute to EONDT.     

插管注入开塞露在妇科便秘患者中的应用

目的:探讨插管注入开塞露对缓解妇科患者便秘的效果。方法:将140例妇科便秘患者随机分为对照组和试验组各70例,对照组采用传统的方法将开塞露直接纳肛,试验组用50ml注射器连接16号吸痰管轻插入肛门15-20cm,注入同等量开塞露通便,比较两者患者用药效果。结果:实验组患者排便时间明显比对照组提前(P<0.01);实验组排便效果优于对照组,差异有显著意义(P<0.01)。结论:插管注入开塞露纳肛在缓解妇产科便秘患者中安全、实用、可靠,优于传统方法。     

Intestinal epithelial barrier and neuromuscular compartment in health and disease

A number of digestive and extra-digestive disorders, including inflammatory bowel diseases, irritable bowel syndrome, intestinal infections, metabolic syndrome and neuropsychiatric disorders, share a set of clinical features at gastrointestinal level, such as infrequent bowel movements, abdominal distension, constipation and secretory dysfunctions. Several lines of evidence indicate that morphological and molecular changes in intestinal epithelial barrier and enteric neuromuscular compartment contribute to alterations of both bowel motor and secretory functions in digestive and extra-digestive diseases. The present review has been conceived to provide a comprehensive and critical overview of the available knowledge on the morphological and molecular changes occurring in intestinal epithelial barrier and enteric neuromuscular compartment in both digestive and extra-digestive diseases. In addition, our intent was to highlight whether these morphological and molecular alterations could represent a common path(or share some common features) driving the pathophysiology of bowel motor dysfunctions and related symptoms associated with digestive and extra-digestive disorders. This assessment might help to identify novel targets of potential usefulness to develop original pharmacological approaches for the therapeutic management of such disturbances.