A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23

Renal cell carcinoma (RCC) is the most lethal urologic cancer. Only two common susceptibility loci for RCC have been confirmed to date. To identify additional RCC common susceptibility loci, we conducted an independent genome-wide association study (GWAS). We analyzed 533 191 single nucleotide polymorphisms (SNPs) for association with RCC in 894 cases and 1516 controls of European descent recruited from MD Anderson Cancer Center in the primary scan, and validated the top 500 SNPs in silico in 3772 cases and 8505 controls of European descent involved in the only published GWAS of RCC. We identified two common variants in linkage disequilibrium, rs718314 and rs1049380 (r(2) = 0.64, D?' = 0.84), in the inositol 1,4,5-triphosphate receptor, type 2 (ITPR2) gene on 12p11.23 as novel susceptibility loci for RCC (P = 8.89 × 10(-10) and P = 6.07 × 10(-9), respectively, in meta-analysis) with an allelic odds ratio of 1.19 [95% confidence interval (CI): 1.13-1.26] for rs718314 and 1.18 (95% CI: 1.12-1.25) for rs1049380. It has been recently identified that rs718314 in ITPR2 is associated with waist-hip ratio (WHR) phenotype. To our knowledge, this is the first genetic locus associated with both cancer risk and WHR.     

Treatment of hypertension in the Hispanic community: cultural case studies

This patient had good command of English, so most of the interactions and teaching that he participated in was conducted in English. Over time, the patient developed a very good relationship with the doctor's office and relied on that relationship to support making changes that would ensure he was maintaining good health. The involvement of the patient's daughter was absolutely essential, since he had started drinking and neglecting his health following the death of his wife. Involving his daughter in the treatment plan gave him someone else outside of the office on whom he could rely for guidance and support, and so that she, in turn, could oversee his compliance with the plan. Two other issues deserve mention. First, drug-resistant hypertension is defined as BP > 140/90 mm Hg on 3 or more medications. One of the causes of refractory hypertension is inadequate diuresis, often secondary to reduced glomerular filtration. Since this patient appears to have responded to furosemide over a thiazide diuretic, a 24-hour creatinine clearance should be performed. Second, the glycohemoglobin was abnormal at 6.2 corresponding to a mean blood glucose of 120. This is strongly suspicious for metabolic syndrome, and a waistline measurement should be obtained. If this patient is overweight, a 5% weight loss could reduce this patient's chance of developing diabetes by 58%.     

Comparison of manual and gravity stress radiographs for the evaluation of supination-external rotation fibular fractures

BACKGROUND: Isolated distal fibular fractures most commonly result from a supination-external rotation injury of the ankle. Deltoid ligament ruptures can also be associated with these injuries, resulting in an unstable ankle fracture due to incompetent lateral and medial restraints. We hypothesized that a gravity stress radiograph is equivalent to a manual stress radiograph for the detection of deltoid ligament injury in association with an isolated fibular fracture. METHODS: All patients presenting to a level-1 trauma hospital emergency department with an isolated fibular fracture were screened. Ankle stability was determined on the basis of radiographic measurements of the medial clear space and talar shift. A manual stress radiograph and a gravity stress radiograph of the injured ankle were made for each patient. The manual stress radiograph was used to determine whether the ankle was stable or unstable. RESULTS: A total of twenty-five patients (thirteen with a supination-external rotation type-II fracture and twelve with a supination-external rotation type-IV-equivalent injury) were enrolled in the study. In the type-II group, the average medial clear space was 4.15 and 4.26 mm on the manual and gravity stress radiographs, respectively (p = 0.50). In the type-IV group, the average medial clear space was 5.21 and 5.00 mm on the manual and gravity stress radiographs, respectively (p = 0.69). CONCLUSIONS: The gravity stress radiograph is equivalent to the manual stress radiograph for determining deltoid ligament injury in association with an isolated distal fibular fracture, and thus it can be used to determine ankle stability in patients who present with an isolated distal fibular fracture.     

Malignant peritoneal mesothelioma tumours. Evolution, treatment, prognosis

Malignant mesothelioma of the peritoneum is a rare neoplasm with a rapidly fatal course. The median survival range is from 5 to 12 months in untreated cases with little improvement seen in patients receiving multimodality therapy. Although most cases occur in the fifth and sixth decades, peritoneal mesothelioma can be seen in any age group. Approximately 30% of all mesotheliomas arise solely from the peritoneum. Asbestos exposure, primarily of the crocidolite variety, has been implicated in the pathogenesis of this malignancy, as was established in South Africa in the 1960s. Half of reported cases have a history of asbestos exposure. The diagnosis of peritoneal mesothelioma is often delayed, in part because of the usually long latent period (peaking at 40-45 years from the time of initial exposure to asbestos) and because the common presenting symptoms of weight loss, usually with a full abdomen, malaise, and abdominal discomfort, are mild and nonspecific. This paper aim is to present a case report regarding a patient diagnosed with malignant peritoneal mesothelioma with an unpredictable evolution.     

The ostomy support team. A reality for ostomates

Stoma is a Greek word meaning mouth or opening. There are many types of surgical stomas and they may be raised on many areas of the abdominal wall. A stoma may be temporary or permanent, may be needed in any age group and may be sited on any part of the abdomen. The specific digestive pathology that could have as result of the surgical management a stoma is represented by colon, rectal and anal cancer, diverticular disease of the colon and rectum, Crohn's disease, ischaemic bowel, volvulus, trauma, Hirschprung disease, imperforate anus, fecal incontinence. This paper aim is to asses the management of fecal stomas and the necessity of a trained ostomy support team.     

Histological evidence concerning the osseointegration of titanium implants in the fractured rabbit femur

Stabilization of the broken bone is achieved using biocompatible materials. Since histology is still considered the gold standard technique for the assessment of bone formation around metallic implants, this report investigated the titanium implant integration in the accidentally broken bone in rabbits. The experimental protocol was reviewed and approved by the Ethical Committee of the Faculty of Medicine and Pharmacy Oradea, Romania. Holes were drilled in the diaphysis of the femur, and titanium implants were inserted in the created bone defect. In two subjects, fractures occurred on days two and three after the metallic alloy implantation. The other two rabbits presented no fractures following the surgical procedure. The rabbits were euthanized and the bones (with metallic implants) were harvested for histopathological investigation. Following decalcification, the bone samples were processed using the standard paraffin technique and stained by Goldner’s trichrome procedure. In subjects with a perfect immobilization of the titanium implants, the osseointegration occurred with minimal callus formation (i.e. primary cortical healing). In rabbits with bone fractures, the callus was more exuberant. A progressive replacement of the granulation tissue with hyaline cartilage and woven bone occurred soon after. The former aspects suggested an indirect metaplasia in the created callus. In all subjects, no inflammatory cells were identified in the created callus. The bone regeneration occurred either by primary cortical healing (in perfectly immobilized titanium implants) or by a process similar to the endochondral ossification (in poorly immobilized titanium implants following accidental post-implantation bones fracture).     

Human papillomavirus infection in the oromaxillofacial area: Clinical anatomy and histological considerations

Clinical manifestations of human papillomavirus (HPV) infection in the head and neck can range from benign lesions, which are the most frequent, to malignant lesions. The prevalence of head and neck cancer is increasing, despite currently decreasing trends in known risk factors such as smoking and alcohol use. A new patient profile has appeared in recent practice: most frequently a middle‐aged male patient who does not smoke or drink alcohol, is sexually active (possibly having multiple partners), and presents with oral or cervicofacial lesions requiring diagnosis and treatment. Another risk factor that should be considered in these patients is HPV infection. The association of oral potentially malignant disorders (OPMD) with HPV is a challenge for the medical practitioner. The gold standard for diagnosis is histopathological examination, which can also yield evidence suggesting HPV infection. Determination of the viral genotype provides additional data for assessing the oncological risk of an HPV infection. Treatment of these patients is aimed at removing the lesions, in association or not with antiviral treatment and recurrence control. Clin. Anat. 28:1002–1007, 2015. © 2015 Wiley Periodicals, Inc.     

Incidence of Appropriate Shock in Implantable Cardioverter-Defibrillator Patients With Improved Ejection Fraction

BackgroundHeart failure with recovered ejection fraction (EF) is a recently described clinical entity. There is insufficient information on the management of implantable-cardioverter defibrillator (ICD) patients with improved EF at generator replacement.Methods and ResultsWe examined the incidence of appropriate shocks in 91 consecutive patients with ICDs for primary prevention of sudden death who underwent generator replacement. Improved EF was defined as both EF >35% at generator replacement and increase in EF by ≥10% since original implantation. Patients were 70 ± 11 years old, and 76% had ischemic cardiomyopathy. At generator replacement, 25 patients (27%) had improved EF (0.49 ± 0.08 vs 0.31 ± 0.07 at baseline; P < .0001). Over 6.2 ± 2.2 years of follow-up after original implantation, 9 patients (36%) with improved EF versus 19 (29%) with unchanged EF had appropriate ICD shocks (P = .51). Incidence of appropriate ICD shocks was similar between the two groups before (P = .90) and after (P = .97) generator replacement. Of the 9 improved EF patients with appropriate shock, 4 had shocks before generator replacement, 2 had shocks before and after generator replacement, and 3 patients, who never had shocks before, had their first shock after generator replacement.ConclusionsSome ICD patients whose EF improves to >35% at generator replacement remain at risk for appropriate ICD shocks.     

Spark Plasma Sintered Soft Magnetic Composite Based on Fe-Si-Al Surface Oxidized Powders

Soft magnetic composites (SMCs) need a stable matrix to apply heat treatments for enhancing their magnetic characteristics. A stable matrix can be offered by alumina, but the densification of the ferromagnetic particles covered by this oxide (by sintering) can be very difficult. This paper proposes a feasible synthesis route for obtaining alumina matrix SMCs. An Fe-Si-Al alloy with nominal composition Fe85Si9Al6 was obtained by mechanical alloying of elemental Fe, Si, and Al powders, and further, the as-milled powders were superficially oxidized by immersion in HCl solution. The oxide layer was composed of iron, silicon, and aluminum oxides, as the Fourier-transform infrared spectroscopy technique revealed. The Fe-Si-Al@oxide powder was densified by the spark plasma sintering technique—SPS. Upon sintering, a continuous matrix of oxide (mainly alumina) was formed by the reaction of the Fe-Si-Al powder coreswith their oxide layer. The main part of the composite compacts after sintering consisted of an Fe₃Si-ordered phase dispersed in an oxide matrix. The DC and AC tests of magnetic composite compacts showed that upon increasing the sintering temperature, the density, magnetic induction, and magnetic permeability increased. The initial magnetic permeability was constant in the entire range of testing frequencies and the magnetic losses increased linearly. The stability of the magnetic characteristics in frequency is promising for developing further such types of magnetic composite.