Role of androgen metabolism genes CYP1B1, PSA/KLK3, and CYP11alpha in prostate cancer risk and aggressiveness.

Candidate genes involved with androgen metabolism have been hypothesized to affect the risk of prostate cancer. To further investigate this, we evaluated the relationship between prostate cancer and multiple potentially functional polymorphisms in three genes involved in androgen metabolism: CYP1B1 (two single nucleotide polymorphisms: 355G/T and 4326C/G), prostate-specific antigen (PSA/KLK3 (three single nucleotide polymorphisms: -158A/G, -4643G/A, and -5412C/T), and CYP11alpha [(tttta)(n) repeat], using a moderately large (n = 918) sibling-based case-control population. When looking at all subjects combined, no association was observed between any polymorphism-or their haplotypes-and prostate cancer risk. However, among men with more aggressive prostate cancer, the CYP1B1 355G/T variant was positively associated with disease: carrying one or two T alleles gave odds ratios (OR) of 1.90 [95% confidence interval (95% CI), 1.09-3.31; P = 0.02] and 3.73 (95% CI, 1.39-10.0; P = 0.009), respectively. Similarly, carrying the CYP1B1 355T-4326C haplotype was positively associated with prostate cancer among men with high aggressive disease (P = 0.01). In addition, the PSA -158G/-158G genotype was positively associated with prostate cancer among men with less aggressive disease (OR, 2.71; 95% CI, 1.06-6.94; P = 0.04). Our findings suggest that CYP1B1 and PSA variants may affect the risk of prostate cancer and tumor aggressiveness.     

Cephalic vein thrombosis

An 83‐year‐old male patient presented to the outpatient clinic with complaint of swelling at right antecubital area. Ultrasonographic examination of the right upper extremity revealed a mass lesion within the right cephalic vein, which was consistent with thrombus. A computed tomography (CT) venography showed contrast enhancement in cephalic vein at distal arm and an aneurysmatic thrombus area displaying regular borders with a size of 28*30 mm; there was no contrast enhancement at more proximal levels at the cephalic vein.     

A rare cause of retinal artery embolism: Accessory mitral valve tissue

A 42‐year‐old female patient was referred our clinic for investigation of a history of acute retinal artery occlusion. Transthoracic echocardiography showed a cyst‐like, mobile formation on posterior mitral valve leaflet. 2D and real time 3D transesophageal echocardiography showed a flexible circular mobile structure which was attached to posterior mitral valve leaflet. Echocardiographic appearance and morphological characteristics were suggestive of accessory mitral valve tissue.     

Open hemiarch versus clamped ascending aorta replacement for aortopathy during initial bicuspid aortic valve replacement

BackgroundThere is controversy regarding the extent of aortic resection necessary in patients with aortopathy related to bicuspid aortic valve disease. To address this issue, we reviewed our experience in patients undergoing ascending aorta replacement during bicuspid aortic valve replacement.MethodsWe reviewed 702 patients who underwent ascending aorta replacement at the time of initial nonemergent native bicuspid aortic valve replacement at our institution between January 2000 and June 2017. Treatment cohorts included an open hemiarch replacement group (n = 225; 32%) and a clamped ascending aorta replacement group (n = 477; 68%).ResultsMedian patient age was 60 years (interquartile range [IQR], 51-67 years), female sex was present in 113 patients (16%), ejection fraction was 62% (IQR, 56%-66%), and aortic arch diameter was 33 mm (IQR, 29-36 mm). Cardiopulmonary bypass time was longer in the hemiarch replacement group (188 minutes vs 97 minutes; P < .001). Procedure-related complications (36%) and mortality (<1%) were similar in the 2 groups; however, the hemiarch group had an increased odds of blood transfusion (odds ratio, 1.62; 95% confidence interval [CI], 1.15-2.28; P = .006). The median duration of follow-up was 6.0 years (95% CI, 5.3-6.8 years). Overall survival was 94 ± 1% at 5 years and 80 ± 2% at 10 years. Multivariable analysis demonstrated similar survival in the 2 groups (hazard ratio, 0.83; 95% CI, 0.51-1.33; P = .439). No repeat aortic arch operations were done for aortopathy over the duration of clinical follow-up.ConclusionsCompared with patients in the clamped ascending aorta replacement group, patients in the hemi-arch replacement group had longer cardiopulmonary bypass and aortic cross-clamp times, along with an increased risk of blood transfusion, but similar freedom from repeat aortic arch operation and survival. We identified no advantage of performing hemiarch replacement in the absence of aortic arch dilation.     

Prognostic factors that affect the response to topical treatment in patchy alopecia areata

Background Alopecia areata (AA) is an organ‐specific, T‐cell‐mediated autoimmune disease that is characterized by non‐scarring hair loss. Objective We aimed to find the factors that may affect the response to topical therapy in AA. Methods The study included a total of 60 patients with AA and 30 healthy control patients. The AA patients were randomized into two groups. 40 patients used 0.05% clobetasol propionate cream, and 20 patients used petrolatum (placebo). Both groups applied topical treatments to their lesions twice daily for 12 weeks. Results The mean extent of AA was 21.88 ± 16.75% in patients with autoantibodies and 12.16 ± 13.55% in those who were negative for autoantibodies (P = 0.021). Ophiasic pattern and nail involvement were observed more frequently in patients with atopy (P < 0.05). Relapse was more frequent in patients with atopy (P = 0.002) and nail involvement (P = 0.02). Conclusions We observed that the presence of autoantibodies was associated with more extensive AA, and that ophiasic hair loss pattern and nail dystrophy were significantly associated with atopy. Topical clobetasol propionate treatment produced a modest advantage in hair regrowth as compared with placebo. Notably, atopic AA patients have a higher risk of relapse and redevelopment of AA after completing a course of topical corticosteroid treatment.     

A rare complication of mechanical aortic valve replacement: Separation in the region of the mitral‐aortic intervalvular fibrosa

A 28‐year‐old man was admitted to our emergency service with a shortness of breath and palpitation. On admission, his blood pressure was high and he was in hypertensive pulmonary edema. His physical examination showed rales in both lungs and pansystolic murmur at mitral focus. His medical history included aortic valve replacement (AVR) because of native aortic valve infective endocarditis. Transthoracic echocardiography (TTE) showed normal functional aortic valve. Color flow imaging demonstrated severe mitral regurgitation with posterior eccentric jet. To examine in detail, transesophageal echocardiography (TEE) and three‐dimensional (3D) echocardiography were performed. TEE disclosed a separation in the subaortic curtain leading to severe mitral regurgitation from the left ventricle to the left atrium. In addition to severe mitral regurgitation with posterior eccentric jet, 26‐mm‐long pouch was seen in mitral‐aortic intervalvular fibrosa (MAIVF) at 120° TEE view. This pouch was separated from the mitral anterior leaflet junction releasing the mitral anterior leaflet and causing prolapse and chorda rupture in the A2 scallop of the mitral anterior leaflet. The MAIVF connects the anterior mitral leaflet to the posterior portion of the aortic annulus. The separation of the MAIVF represents a complication of the aortic valve replacement.     

Two Cases of Mayer-Rokitansky-Kuster-Hauser Syndrome with Situs Inversus Totalis: Coincidence or Co-Existence?

Congenital absence of uterus and vagina, the Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS), results from defective müllerian duct development during female embryogenesis; it is the second most common cause of primary amenorrhea. Atypical forms of MRKHS (type B) represent a heterogeneous group of disorders with associated anomalies of other organ systems which frequently includes the renal and skeletal systems and several individually occurring malformations.We report two cases with MRKHS in which we diagnosed situs inversus totalis incidentally during radiologic examinations. Abdominal situs inversus describes the mirror-image arrangement of the intra-abdominal organs in the abdominal cavity and it is characterized by the presence of multiple congenital anomalies.In this report we attempt to question whether the association between MRKHS and situs inversus is a rare feature of the müllerian dysgenetic spectrum or whether it is the result of random association.