Cryogenic burns from aerosol sprays: a report of two cases and review of the literature.

Cryogenic burns are uncommon. We present two patients who presented to a Regional Burns Unit on consecutive days with almost identical burn injuries caused by exposure to a unique source of sub-zero temperature, the spray from an aerosol deodorant. The clinical features and management of the cases are outlined, and we discuss the mechanism of a cryogenic burn.     

Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment

Though many hearing impairment genes have been identified, only a few of these genes have been screened in population studies. For this study, 168 Pakistani families with autosomal recessive hearing impairment not due to mutations in the GJB2 (Cx26) gene underwent a genome scan. Two-point and multipoint parametric linkage analyses were carried out. Twelve families had two-point or multipoint LOD scores of 1.4 or greater within the transmembrane cochlear expressed gene 1 (TMC1) region and were subjected to further screening with direct DNA sequencing. Five novel putatively functional non-synonymous sequence variants, c.830A>G (p.Y277C), c.1114G>A (p.V372M), c.1334G>A (p.R445H), c.2004T>G (p.S668R), and c.2035G>A (p.E679K), were found to segregate within seven families, but were not observed in 234 Pakistani control chromosomes. The variants c.830A>G (p.Y277C), c.1114G>A (p.V372M), and c.1334G>A (p.R445H) occurred at highly conserved regions and were predicted to lie within hydrophobic transmembrane domains, while non-synonymous variants c.2004T>G (p.S668R) and c.2035G>A (p.E679K) occurred in extracellular regions that were not highly conserved. There is evidence that the c.2004T>G (p.S668R) variant may have occurred at a phosphorylation site. One family has the known splice site mutation c.536 -8T>A. The prevalence of non-syndromic hearing impairment due to TMC1 in this Pakistani population is 4.4% (95%CI: 1.9, 8.6%). The TMC1 protein might have an important function in K(+) channels of inner hair cells, which would be consistent with the hypothetical structure of protein domains in which sequence variants were identified.     

Morbidity and Mortality Associated with Typhoid Fever Among Hospitalized Patients in Hyderabad District,Pakistan, 2017-2018: Retrospective Record Review

BackgroundHyderabad, Pakistan, was the first city to witness an outbreak of extensively drug resistant (XDR) typhoid fever. The outbreak strain is resistant to ampicillin, chloramphenicol, trimethoprim-sulfamethoxazole, fluoroquinolones, and third-generation cephalosporin, thus greatly limiting treatment options. However, despite over 5000 documented cases, information on mortality and morbidity has been limited.ObjectiveTo address the existing knowledge gap, this study aimed to assess the morbidity and mortality associated with XDR and non-XDR Salmonella serovar Typhi infections in Pakistan.MethodsWe reviewed the medical records of culture-confirmed typhoid cases in 5 hospitals in Hyderabad from October 1, 2016, to September 30, 2018. We recorded data on age, gender, onset of fever, physical examination, serological and microbiological test results, treatment before and during hospitalization, duration of hospitalization, complications, and deaths.ResultsA total of 1452 culture-confirmed typhoid cases, including 947 (66%) XDR typhoid cases and 505 (34%) non-XDR typhoid cases, were identified. Overall, ≥1 complications were reported in 360 (38%) patients with XDR typhoid and 89 (18%) patients with non-XDR typhoid (P<.001). Ileal perforation was the most commonly reported complication in both patients with XDR typhoid (n=210, 23%) and patients with non-XDR typhoid (n=71, 14%) (P<.001). Overall, mortality was documented among 17 (1.8%) patients with XDR S Typhi infections and 3 (0.6%) patients with non-XDR S Typhi infections (P=.06).ConclusionsAs this first XDR typhoid outbreak continues to spread, the increased duration of illness before hospitalization and increased rate of complications have important implications for clinical care and medical costs and heighten the importance of prevention and control measures.     

The Radiologic Features of Non-Neoplastic Tumors of Soft Tissue

Neoplasms of the soft tissues cause localized swelling and a variable degree of tissue response on the part of the host; these features they share with many non-neoplastic disorders. A spectrum of lesions that may simulate soft tissue neoplasms are described, with their radiologic appearances. The cellular nature of the matrix of a lesion cannot be identified absolutely as neoplastic by current imaging methods. Although sonography and magnetic resonance imaging can each produce valuable diagnostic information hitherto not provided by imaging the soft tissues, they do not per se show evidence of neoplasia. The differentiation of the two types of tumor, neoplastic and non-neoplastic, can only be achieved by a combination of clinical, radiologic and histologic information. Ultimately, biopsy with histologic examination may be required for the definitive diagnosis.     

Concurrent cisplatin and radiotherapy in advanced head and neck cancer

Management of Head and Neck Cancers poses a challenge inspite of several advances because of poor success in terms of response rate, survival and reduced morbidity of the patients. In the present study 30 untreated histologically proven cases of head and neck cancers were subjected to weekly radiotherapy with adjuvant chemotherapy (cisplatin 30 mg/m² intravenously). This study group was compared with a group of 30 patients who were given only radiotherapy. Results have shown that combination of chemotherapy with radiotherapy gives a significantly better results in tumour as well as nodal response with minimal toxicities.     

手术对Ⅳ期胆囊癌预后的影响

目的分析不同手术方式对Ⅳ期胆囊癌预后的影响.方法对1997年6月～2001年5月间上海市172例Ⅳ期胆囊癌病例进行临床病理分析,并对获得随访的164例的预后与手术方式的关系进行探讨.数据分析采用Kaplan-Meier法.结果 172例中未手术者44例(25.6%),手术者128例(74.4%),其中包括单纯胆囊切除术45例(35.1%)、胆囊癌根治性切除术17例(13.3%)、胆囊癌扩大根治性切除术5例(3.9%)和剖腹探查术61例(47.7%).在行根治性切除者中,Ⅳa和Ⅳb期的1年生存率分别为69.2%和40.7%,明显好于胆囊未切除或单纯切除者,在Ⅳa和Ⅳb期中各有2例存活期超过5年.结论有选择地进行Ⅳ期胆囊癌病例根治性或扩大根治性手术,有助于改善预后.     

上海市胆道癌病理形态特征的初步观察:附487例分析

目的研究上海市区居民胆道癌病理形态特征和鉴别诊断.方法自1997年6月～2001年5月在上海市区开展基于全人群的胆道癌病例-对照研究,总共收集病理切片1 228例,包括胆道癌487例(其中胆囊癌322例,肝外胆管癌105例和壶腹癌60例),胆道结石和胆囊炎对照病例721例,胆道腺瘤20例,由中、美资深病理医师复查,按世界卫生组织1991年胆囊和肝外胆管肿瘤组织学分型进行分类.结果病理标本以切除标本为主,肿瘤大小为多数小于4 cm,组织学类型中70%以上为腺癌,肿瘤组织学分级以高分化和中分化占绝大多数,TNM分期中0～Ⅱ期的胆囊癌和肝外胆管癌约占1/3,壶腹癌近2/3.病理复查结果显示诊断过头占1.8%,诊断不足占0.6%,漏诊占0.1%;随访结果显示根治术后的5年生存率:胆囊癌40.7%、肝外胆管癌11.1%和壶腹癌26.9%.结论病理复查可以统一诊断标准,提高确诊率,为全人群病例-对照研究和多学科协作积累经验.     

Mechanical pulmonic valve thrombosis: expanding role of cardiac CT and multimodality imaging

We report a case of a 44-year-old man with a clinical history of Tetralogy of Fallot status post staged surgical correction with mechanical pulmonic valve replacement who presented with progressive exertional dyspnea in the setting of non-compliance with anticoagulation. In the context of this suggestive clinical presentation, the diagnosis of mechanical pulmonic valve thrombosis (MPVT) was made possible via multimodality imaging, including transthoracic echocardiogram and cardiac computed tomography angiography. Due to the uncommon nature of the condition, the patient was treated with systemic thrombolysis and anticoagulation using evidence-based guidelines, largely extrapolated from left-sided mechanical valve thrombosis. Our case underscores the importance of anticoagulation in MPVT and recognizing the features of MPVT on clinical history, physical examination, and multimodality imaging. It is essential to understand the pivotal role of multimodality imaging in the assessment of MPVT and realize the limitations of available data regarding the management of MPVT in the current era.     

When muscle quivers and undulates

We describe a patient who presented with fatigue and pulling sensation in his lower limbs. He had continuous muscle contractions over his trunk (myokymia) which pointed towards the diagnosis of Isaacs syndrome which was confirmed by strongly positive CASPR2 antibodies in blood.