Behavioural phenotype of a patient with a de novo 1.2 Mb chromosome 4q25 microdeletion

A female patient, 20 years of age, is reported with a history characterized by developmental and psychomotor delay, and during grammar-school period increasing learning problems, ritualistic behaviours and social withdrawal. Subsequently, challenging and autistic-like behaviours became prominent. The patient showed mild facial dysmorphisms, long thin fingers with bilateral mild short V metacarpals, and hyperlaxity of the joints. Neuropsychiatric examination disclosed obsessive, ritualistic behaviours and vague ideas of reference. Neuropsychological assessment demonstrated mild intellectual disability, mental inflexibility and incongruent affect. MRI-scanning of the brain showed no relevant abnormalities. Genome wide SNP array analysis revealed a 1.2 Mb de novo interstitial microdeletion in 4q25 comprising 11 genes, that was considered to be causative for the developmental delay, perseverative cognitive phenotype and dysmorphisms.To the authors knowledge, this is the first report of a de novo 4q25 microdeletion that presents with a specific behavioural phenotype.     

Whipple disease: a 15-year retrospective study on 36 patients with positive polymerase chain reaction for Tropheryma whipplei

Our institution has performed microbiological diagnosis of Tropheryma whipplei since 2001, initially with a PCR targeting 16S rRNA before the development of a quantitative PCR in 2012. Here we report the clinical characteristics of a cohort of patients suffering from Whipple disease (WD) and evaluate the impact of these molecular techniques. Patients with a positive PCR for T. whipplei between 2001 and 2016 were retrospectively collected from microbiological databases. Two infectious diseases specialists reviewed their medical records and classified them as definite WD, probable WD or carriage of T. whipplei without disease. A total of 1153 samples were tested for T. whipplei; 76 samples taken from 36 patients were positive. Fifteen were considered as presenting a definite WD, seven as a probable WD and 14 as carriers. Median age was 56.4 years (extremes, 6.6–76.1). Median time from symptoms to diagnosis was 3 years (2.5 months to 13.3 years). About 60% were immunosuppressed. The most frequent clinical presentations were joint pain (16/22), weight loss (15/22) and/or digestive tract disorder (15/22); 41% had neurological manifestations, 32% pulmonary involvement and 32% lymphadenopathies. Bacterial load in faeces or saliva were 88 425 copies/mL (IQR 6175-292 725) in definite and probable WD and 311 copies/mL (IQR 253–2090) in carriers, respectively. We observed a 90% PPV above 32 200 copies/mL in faeces. WD is a chronic multisystemic disease with frequent pulmonary involvement. Underlying immunodeficiency is commonly observed leading to more complex clinical presentation. Positive T. whipplei PCR in both stool and saliva has a high positive predictive value. Moreover, patients with WD present higher bacterial load in faeces with a threshold of >32 200 copies/mL predicting ongoing infection.     

512例胆管细胞癌的临床及预后特点

目的： 胆管细胞癌(cholangiocarcinoma，CCA)恶性程度较高，总体预后较差，初诊时分期较晚，治疗手 段有效率欠佳。本研究探索影响CCA发生、发展的临床特点及预后相关因素，以期为CCA的早期诊断及临床治疗提 供潜在的手段。方法： 回顾性分析中南大学湘雅二医院2002 年以来经病理确诊且临床资料完善的512 例CCA患者的 病历资料。利用Kaplan-Meier 法绘制生存曲线、log-rank 进行单因素分析，多元Cox回归法对有意义的变量进行多因 素分析。结果： CCA发病率≤60 岁者高于>60 岁者(61.13% vs 38.87%)，男性略高于女性(52.54% vs 47.46%)，糖类抗 原19-9(carbohydrate antigen 19-9，CA19-9)≥35 μg/L 者占66.21%，病理分期III 和IV 期患者居多(分别占49.22%和 17.58%)。单因素分析发现ALB，ALP，CA19-9 等因素与预后相关，多因素Cox 生存分析发现ALP，CA19-9，肿瘤 最大直径等是CCA预后独立影响因素。结论：CCA发病率≤60 岁人群较高，初诊时分期较晚，CA19-9 是较为敏感的 实验室指标。ALP，CA19-9，肿瘤最大直径，合并子瘤，肝硬化及TNM分期是影响CCA预后的独立因素。     

Ten‐year retrospective clinicohistological study of cutaneous lupus erythematosus in Korea

An understanding of the differences in clinical manifestations and laboratory abnormalities between subtypes of cutaneous lupus erythematosus (CLE) is still lacking. The purpose of this study was to analyze demographic, clinical and histological features of CLE according to three main presentation subsets: acute (ACLE), subacute (SCLE) and chronic (CCLE). A 10‐year retrospective analysis was performed on data from patients who were diagnosed with CLE between March 2005 and September 2015 in a Korean tertiary referral dermatology clinic. We compared demographic data and clinical and histological findings between three different CLE groups. An overall sample of 220 patients with CLE consisted of 67 patients with ACLE, 25 patients with SCLE and 135 patients with CCLE. Patients with CCLE regardless of systemic lupus erythematosus (SLE) presence had lower prevalence of anemia, urinary abnormalities and elevated erythrocyte sedimentation rate. Furthermore, CCLE patients who only had skin lesions showed lower female predominance, lower extracutaneous manifestation, fewer laboratory and immunological abnormalities including low antinuclear antibody titers and the lowest positivity for C3, C4 and anti‐dsDNA, anti‐Ro, anti‐Sm and anti‐RNP antibodies, and more prominent perieccrine inflammation and dermal fibrosis in histological findings. Considering distinct cutaneous manifestations of LE, a comprehensive awareness of each CLE subtype is important for achieving a favorable prognosis through appropriate diagnosis and management. This study provides comparative clinical and histological profiles of patients with different CLE subtypes in Korea.     

Inflammatory features of melasma lesions in Asian skin

Melasma is triggered by various factors including ultraviolet radiation and estrogen; however, its pathogenesis is unclear. To investigate the inflammatory features of melasma lesions as triggers for this disorder, 197 women with melasma who attended Asan Medical Center and Kangskin Clinic, Seoul, from June 2011 to October 2011 completed a questionnaire concerning triggering or aggravating factors. These cases were divided into “non‐inflammatory” and “inflammatory” groups. Skin biopsies and immunostaining for CD68, CD117, and leukocyte common antigen (LCA) were performed in the lesional and peri‐lesional skin of ten cases in the non‐inflammatory group and nine cases in the inflammatory group. Among the 197 subjects (mean age, 41.5 years; mean age of melasma onset, 33.8 years), 50 patients (25.4%) were categorized into the inflammatory group. This group comprised cases that had inflammatory symptoms and events that triggered the melasma lesions. The lesional dermis contained more CD68⁺ melanophages, CD117⁺ mast cells, and LCA⁺ leukocytes in the inflammatory group than in the non‐inflammatory group. Inflammatory clinical features and an increased number of inflammatory cells in the lesion may be involved in the development of melasma in Asian skin.     

A qualitative exploration of mothers' and fathers' experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis

Klinefelter syndrome (KS) is a common genetic condition that is currently under-diagnosed. The phenotype is broad, with physical, medical and psychosocial features ranging from mild to severe. When a child is diagnosed with KS, the parents may spend months to years searching for a diagnosis. This study used a qualitative methods approach to explore parents'' experiences of having a child with KS and receiving a diagnosis. Fifteen semistructured one-to-one in-depth interviews were conducted to explore their experiences and views. The interviews were then transcribed, coded and thematically analysed. The interviews revealed that parents had diverse experiences related to: the timing of the diagnosis of their child and reasons why their child was investigated for KS; the information that was provided at the time of diagnosis; the supports that were available and the concerns that parents held for the future of their child. The conclusions from this study were that parents'' experiences of having a child with KS and receiving a diagnosis were complex and multifaceted. This experience was shaped by the timing of when the diagnosis was received, who provided the diagnosis, what information was provided from health-care professionals and that which parents may have encountered on the internet. The long-term experiences for parents were also impacted by the level of support they received. These findings have implications for the process by which KS is recognised by the health-care community and supports available for families.     

九年制岐黄国医实验班中医诊断学教学特色

九年制岐黄国医实验班是北京中医药大学中医学专业首次推出以9年直博为特色的教学实验班,在全国尚属首例,也是我校学制最长、培养要求最高的班级。通过9年的学习,直接获得博士学位,最终目标为培养从事中医医疗、预防、保健等工作的中医药临床精英人才。为了实现这一目标,中医诊断学课程的教授面临着更大的挑战,无论从教学大纲的制定、教学时数的安排、教学方法的采用和教学内容的教授上,我们都进行了深入探索、改革和提高,具有不同于其他学制（如五年制、八年制）的教学特色,通过2届的教授和教学研究,均取得了良好的教学效果,达到了预期的中医诊断学教学目标和要求,为探索如何培养中医高精尖人才进行了有益尝试,积累了一定的经验。     

硬膜下积脓的临床特点及治疗分析

目的探讨硬膜下积脓(Subdural empyema,SDE)的临床特点,为临床治疗提供借鉴。方法回顾性分析本科保守治疗的硬膜下积脓病例1例,并对已有文献报道进行综述,总结其临床、影像学表现及治疗。结果文献报道共50例患者,48例外科手术治疗,2例内科保守治疗。SDE起病急,主要临床表现为大脑镰综合征、抽搐,意识障碍。头磁共振表现:大脑镰及小脑幕下积脓呈长T1,长T2信号,FLAIR呈高信号,DWI呈高信号,积脓周围脑膜强化。治疗上主要以外科手术为主,少数病例通过合理的抗菌药物治疗也可好转。结论镰幕硬膜下积脓的临床特点是大脑镰综合征和镰幕下积脓;以外科治疗为主,内科保守治疗也是一种可行的治疗方法。