Novel pathogenic variants in an Indian cohort with epidermolysis bullosa: Expanding the genotypic spectrum

BackgroundEpidermolysis bullosa (EB) is a genodermatosis characterized by skin fragility and blisters with variable severity. Patients with Dystrophic EB (DEB) or Junctional EB (JEB) mainly present to clinic due to greater functional impairment. Pathogenic sequence variations in COL7A1 are implicated in DEB.ObjectiveWe have tried to decipher the molecular spectrum and genotype phenotype correlation of 21 Indian patients with EB.MethodsNext generation sequencing (NGS) was performed to determine the pathogenic variants. Sanger sequencing was also done for validation of the variants in eleven individuals.ResultsPathogenic variants were detected in 20 individuals (diagnostic yield of 95%). Majority of them (90%) had sequence variation in COL7A1 while two had pathogenic variants in ITGB4 and KRT14 respectively. Out of the 18 patients confirmed to have DEB, 3 had Dominant DEB (DDEB) whereas 15 patients had Recessive DEB (RDEB). Amongst 23 sequence variations identified, 12 were found to be novel (3 were missense, 5 were premature termination codon variants while 4 were splice-site changes).ConclusionGenotype phenotype correlation was noted with milder manifestations in those with dominant inheritance types. Exact molecular diagnosis can be ascertained by NGS in majority of cases.     

Gastric Cancer and Paraneoplastic Pemphigus

Paraneoplastic pemphigus is a relatively rare but significant acquired autoimmune mucocutaneous disorder that is characterised by diffuse erythema, painful blistering and sores of the skin and mucus membranes. The underlying pathogenesis is believed to be triggered by altered immune system in response to underlying neoplasm. The manifestations can predate, occur at the same time or after the diagnosis of cancer. Associations with gastric cancer have only been reported twice. A 78-year-old lady presented with a month’s history of extensive skin lesions that started off as bullous lesions and biopsy revealed bullous pemphigus. Endoscopy for anemia revealed gastric cancer. This case reinforced the need to consider underlying malignancy in elderly patient with new onset dermatological presentation.     

膀胱肿瘤切除术后尿路感染病原学和危险因素

目的观察膀胱肿瘤切除术后患者尿路感染发生情况与病原学特征,分析诱发尿路感染的危险因素,并提出合理且具备针对性的冲洗对策,为未来膀胱肿瘤切除术后尿路感染的预防提供合理参考。方法回顾性分析连云港市第一人民医院2016年1月-2019年1月接受经尿道膀胱肿瘤切除术治疗的451例膀胱肿瘤患者的临床资料,收集患者病例资料,全部患者术后均定期取尿液标本进行细菌培养,参照相关标准判定患者尿路感染情况,记录患者一般情况,包括一般人口学资料(性别、年龄、体质量、受教育程度等),同时记录患者糖尿病的疾病合并情况,将术后尿路感染可能的危险因素纳入初步分析,Logistic多因素回归分析膀胱肿瘤切除术后发生尿路感染的危险因素。结果451例膀胱肿瘤切除术患者术后第3天尿液中细菌培养阳性例数为80例,阳性率为17.74%,在使用抗菌药物后,患者尿液中细菌培养阳性率逐渐降低,各时点尿液细菌阳性培养率比较,差异有统计学意义(P<0.05);经多因素Logistic回归分析检验证实,高龄、血糖水平控制不佳、术前留置导尿管、多发肿瘤是膀胱肿瘤切除术后尿路感染的危险因素(OR>1,P<0.05);80例术后尿液细菌培养阳性患者共分离出87株菌株,其中革兰阴性菌66株占75.86%,革兰阳性球菌21株占24.14%。结论膀胱肿瘤切除术后患者有较高的尿路感染风险,革兰阴性菌是主要的感染病原菌,年龄、基础疾病、肿瘤位点、术前导尿管留置等是影响因素,这类患者应引起临床高度重视。     

应用噬菌体控制假单胞菌的研究进展

假单胞菌属细菌中的部分菌株是动植物和人类的致病菌，也是食品的腐败菌，会导致动植物和人类的高死亡率和严重的食品安全事故。噬菌体作为一种细菌性病毒，特异性高、自我增殖快且无副作用。这些特性使其成为了解决细菌性问题的新思路和新方法。本文就利用噬菌体防控假单胞菌属致病菌和腐败菌在食品、水产、植物、医疗等方面的研究和应用进行综述，以便为后期的深入研究提供一定的参考。     

Treatment of oral manifestations of toxic epidermal necrolysis with low‐level laser therapy in a pediatric patient

Drug‐induced reactions are complications associated with high mortality and significant morbidity. Stevens–Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN) are examples of these conditions, which are characterized by skin and mucous lesions. Here, we report a case of a 9‐year‐old girl who presented with blisters associated with an extensive vesicular rash and multiple ulcerations on the lips and oral cavity. A drug‐induced hypersensitivity reaction to antibiotics was suspected, and a diagnosis of TEN was made. The patient was managed with withdrawal of the suspected causative agent, and the oral lesions were treated with low‐level laser therapy (LLLT) and oral hygiene. This case highlights that TEN requires interdisciplinary intervention with dental assistance and follow‐up to improve symptoms, nutrition, systemic condition, and quality of life.     

84例产褥感染的临床特点及常见致病微生物耐药性分析

目的 研究产褥感染的危险因素及常见致病微生物耐药情况，为临床治疗提供参考。方法 回顾性分析我院2017 年1 月～2019 年12 月发生的84 例产褥感染病例的临床资料，与同时期未发生产褥感染的200 例产妇进行对照研究，分析产褥感染的影响因素，并对分离获得的致病微生物进行耐药性分析。结果 感染组妊娠糖尿病、产钳助产、宫口开全后中转剖宫产患者的分布率高于对照组，差异有统计学意义（P＜0.05）；经多因素Logistic 回归分析，妊娠糖尿病是产褥感染的独立影响因素（P＜0.05）。本研究中共检出致病微生物40 株，其中革兰阴性菌13 株（占32.50%），革兰阳性菌10 株（占25.00%），支原体16 株（占40.00%），衣原体1 株（占2.50%），革兰阴性菌中以大肠埃希菌最常见，对二代头孢菌素类抗生素耐药率20%。革兰阳性菌以金黄色葡萄球菌最常见，对青霉素及头孢菌素耐药率高，未发现对亚胺培南及万古霉素耐药。结论 产钳助产、妊娠糖尿病、宫口开全后中转剖宫产是产褥感染可能的危险因素，其中，妊娠糖尿病是产褥感染的独立危险因素。目前临床常见致病微生物谱及耐药率未发生明显变化。     

39例化脓性关节炎临床分析

目的 提高临床对化脓性关节炎(SA)尤其是不典型病例的认识.方法 回顾性分析我院近十年收治的39例SA的临床表现、实验室及辅助检查和治疗经过.结果 临床主要表现为发热、畏寒和关节局部红、肿、热和压痛,以膝关节受累最常见,其次为髋和踝关节,12例关节局部症状不典型,容易漏诊,3例并发败血症,金黄色葡萄球菌是最常见的致病菌.结论 临床上SA大多表现不典型,应尽早完善关节滑液常规、滑液及血细菌培养、滑膜病理检查等明确诊断,旱期使用抗生素和关节局部处理可改善预后.     

狂犬病病毒致病机制研究概况

狂犬病病毒（RV）是一种高度嗜神经性病毒，由RV引发的狂犬病通常是一种急性致死性神经系统损伤性疾病。RV通过周围神经末梢和中枢神经系统（CNS）的神经元进行病毒的复制和传播。绝大多数狂犬病例CNS病理学表现为急性脑脊髓炎，常常没有显著的显微镜下改变，脑部可以轻度肿胀，脑膜和脑实质血管轻度充血并伴有少量炎症细胞浸润，这也是其他急性病毒性脑炎常见的共同表现。