Epidemiological characteristics of a Spanish cohort of patients diagnosed with squamous cell carcinoma of head and neck: distribution of risk factors by tumor location

Purpose

Head and neck cancer is a highly heterogeneous disease comprising a large number of tumors located in the cervicofacial area. This study aimed to determine the epidemiological characteristics of squamous-cell carcinomas of the head and neck in the Spanish population, and the distribution of risk factors based on tumor locations.

Methods/patients

A cohort of 459 patients (75 oral cavity, 167 oro-/hypopharyngeal and 217 laryngeal cancers) recruited in 19 hospitals participating in the Spanish head and neck cancer cooperative group were included over 3 years (2012–2014). Epidemiological parameters and risk factors were obtained from a self-administered questionnaire, and tumor characteristics were obtained from clinical records. Multivariate multinomial logistic regression was used to assess factors associated with tumor location.

Results

Most patients were males (88.4 %), smokers (95 %) and drinkers (76.5 %). Relative to laryngeal cancer, pharyngeal cancer and oral cancer were more common in women than men (OR 3.58, p = 0.003 and 4.33, p = 0.001, respectively); pharyngeal cancer was more associated with rural environment (OR 1.81, p = 0.007) and weekly alcohol intake (10–140 g: OR 2.53, p = 0.012; 141–280 g: OR 2.47, p = 0.023; >280 g: OR 3.20, p = 0.001) and less associated with pack-years of smoking (21–40 packs: OR 0.46, p = 0.045; 41–70 packs: OR 0.43, p = 0.023; ≥71 packs: OR 3.20, p = 0.015).

Conclusions

The distribution of these tumors differs between the sexes, with a higher proportion of oral cavity and pharyngeal tumors in women than in men. Oro-/hypopharyngeal cancers were more strongly associated with rural areas and with alcohol consumption, although less strongly associated with smoking than laryngeal tumors.

     

Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women

Background

PALB2 has recently been identified as a breast cancer susceptibility gene. PALB2 mutations are rare causes of hereditary breast cancer but may be important in countries such as Finland where a founder mutation is present. We sought to estimate the contribution of PALB2 mutations to the burden of breast cancer in French Canadians from Quebec.

Methods

We screened all coding exons of PALB2 in a sample of 50 French-Canadian women diagnosed with either early-onset breast cancer or familial breast cancer at a single Montreal hospital. The genetic variants identified in this sample were then studied in 356 additional women with breast cancer diagnosed before age 50 and in 6,448 newborn controls.

Results

We identified a single protein-truncating mutation in PALB2 (c.2323 C>T, resulting in Q775X) in 1 of the 50 high-risk women. This variant was present in 2 of 356 breast cancer cases and in none of 6,440 newborn French-Canadian controls (P = 0.003). We also identified two novel new non-synonymous single nucleotide polymorphisms in exon 4 of PALB2 (c.5038 A>G [I76V] and c.5156 G>T [G115V]). G115V was found in 1 of 356 cases and in 15 of 6,442 controls (P = 0.6). The I76V variant was not identified in either the extended case series or the controls.

Conclusion

We have identified a novel truncating mutation in PALB2. The mutation was found in approximately 0.5% of unselected French-Canadian women with early-onset breast cancer and appears to have a single origin. Although mutations are infrequent, PALB2 can be added to the list of breast cancer susceptibility genes for which founder mutations have been identified in the French-Canadian population.     

Common sports‐related musculoskeletal injuries presenting to the emergency department

Young athletes are specialising in sports at a younger age, placing the developing musculoskeletal system under considerable stress. Overuse injuries such as apophysitis are chronic in nature and account for a large proportion of musculoskeletal injuries suffered by young athletes; however, with an increased emphasis on success in sport, tendinopathy and fatigue fractures are now being reported with increasing frequency, in the adolescent population. Correct diagnosis and early protection, rest, ice, compression and elevation therapy is critical, along with supervised rehabilitation an expert in paediatric and adolescent sports medicine. Acute traumatic knee injury and ankle sprain account for most acute injuries. Although most are soft tissue in nature, radiography may be useful in specific situations before early initiation of protection, rest, ice, compression and elevation therapy. These injuries will also require follow‐up by an expert in paediatric and adolescent sports medicine to confirm the diagnosis and instigate ongoing rehabilitation and/or orthopaedic referral. Many of these injuries are preventable and due consideration should be given to simple prevention strategies.     

紫外分光光度法测定盐酸噻氯匹定片的含量

目的：建立紫外分光光度法测定盐酸噻氯匹定片的含量。方法：以０．１ｍｏｌ／Ｌ盐酸溶液为溶剂,测定波长为２３３ｎｍ,盐酸噻氯匹定为对照品。结果：盐酸噻氯匹定的检测线性范围为５－３０μｇ／ｍｌ,相关系数为０．９９９９,平均回收率为１００．２０％。结论;本法准确,快速,简便,可作为盐酸噻氯匹定片的含量测定方法。     

Spectrum of chronic kidney disease in HIV-infected patients

Objectives

The aim of the study was to investigate the prevalence and aetiology of chronic kidney disease (CKD) and trends in estimated glomerular filtration rate (eGFR) in HIV‐infected patients.

Methods

Ascertainment and review of CKD cases among patients attending King's College and Brighton Hospitals, UK were carried out. CKD was defined as eGFR <60 mL/min for ≥3 months. Longitudinal eGFR slopes were produced to examine trends in renal function before, during and after exposure to indinavir (IDV) or tenofovir (TFV).

Results

CKD prevalence was 2.4%. While HIV‐associated nephropathy accounted for 62% of CKD in black patients, 95% of CKD in white/other patients was associated with diabetes mellitus, hypertension, atherosclerosis and/or drug toxicity. Exposure to IDV or TFV was associated with an accelerated decline in renal function (4.6‐fold and 3.7‐fold, respectively) in patients with CKD. In patients initiating IDV, age ≥50 years increased the odds of CKD [odds ratio (OR) 4.9], while in patients initiating TFV, age ≥50 years (OR 5.4) and eGFR 60–75 mL/min (OR 17.2) were associated with developing CKD.

Conclusion

This study highlights the importance of metabolic and vascular disease to the burden of CKD in an ageing HIV‐infected cohort. In patients who developed CKD, treatment with IDV or TFV was associated with an accelerated decline in renal function.     

细胞因子中白细胞介素1β、白细胞介素1Ra及γ-氨基丁酸B受体与癫痫的发病

目的:综述细胞因子中的白细胞介素1β、白细胞介素1Ra及γ-氨基丁酸B受体在癫痫发病中的作用及其与癫痫的关系。资料来源:应用计算机检索PubMed数据库1990-01/2006-10相关文章,检索词“epilepsy,IL-1β,IL-1Ra,GABABR”,并限定文章语言种类为English;同时计算机检索CNKI数据库1990-01/2006-10相关文章,检索词“癫痫,白细胞介素1β,白细胞介素1受体拮抗剂,γ-氨基丁酸B受体”,限定文章语言种类为中文。资料选择:对资料进行初审,纳入标准:①随机对照研究。②基础或临床研究。排除标准:重复研究、重复临床报道的文献、个案报告。资料提炼:共收集到51篇关于癫痫,白细胞介素1β,白细胞介素1受体拮抗剂,γ-氨基丁酸B受体的随机和未随机试验,30个试验符合纳入标准。资料综合:①癫痫的发病有免疫学机制参与。白细胞介素1作为一种重要的细胞因子,在中枢神经系统中的作用尤为突出,在一些神经系统疾病有不同程度的升高,内源性增高的白细胞介素1可明显促进这些疾病所导致的脑损伤。内源性细胞介素1β增多及外源性给予白细胞介素1β与癫痫的形成有密切关系。白细胞介素1受体拮抗剂是白细胞介素1受体的天然拮抗剂。白细胞介素1β与其受体结合后,通过细胞内信息传递途径,多环节调节中枢神经系统的兴奋性,最终影响癫痫的发病过程。②γ-氨基丁酸是中枢神经系统中最主要的抑制性神经递质,各类癫痫的发生几乎都与脑内γ-氨基丁酸的功能变化有关。结论:细胞因子中的白细胞介素1β、神经递质中的γ-氨基丁酸B受体在癫痫的发病过程中均起着重要的作用。但二者在癫痫发病机制中的关系有待于进一步研究。     

HIV,highly active antiretroviral therapy and the heart: a cellular to epidemiological review

The advent of potent highly active antiretroviral therapy (HAART) for persons infected with HIV‐1 has led to a “new” chronic disease with complications including cardiovascular disease (CVD). CVD is a significant cause of morbidity and mortality in persons with HIV infection. In addition to traditional risk factors such as smoking, hypertension, insulin resistance and dyslipidaemia, infection with HIV is an independent risk factor for CVD. This review summarizes: (1) the vascular and nonvascular cardiac manifestations of HIV infection; (2) cardiometabolic effects of HAART; (3) atherosclerotic cardiovascular disease (ASCVD) risk assessment, prevention and treatment in persons with HIV‐1 infection.     

The metalloproteinase inhibitor GI5402 inhibits endotoxin-induced soluble CD27 and CD16 release in healthy humans

Metalloproteinases have been implicated in the cleavage of a number of cell surface immune receptors. Oral administration of the metalloproteinase inhibitor GI5402 attenuated the release of soluble CD27 and CD16 into the circulation after intravenous endotoxin injection in healthy humans.