Phenotypic and molecular characteristics of androgen insensitivity syndrome patients / 亚洲男科学杂志(英文版)

Androgen insensitivity syndrome (AIS), an X-linked recessive genetic disorder of sex development, is caused by mutations in the androgen receptor (AR) gene, and is characterized by partial or complete inability of specific tissues to respond to androgens in individuals with the 46,XY karyotype. This study aimed to investigate AR gene mutations and to characterize genotype-phenotype correlations. Ten patients from unrelated families, aged 2-31 years, were recruited in the study. Based on karyotype, altered hormone profile, and clinical manifestations, nine patients were preliminarily diagnosed with complete AIS and one with partial AIS. Genetic analysis of AR gene revealed the existence of 10 different mutations, of which five were novel (c.2112 C>G[p.S704R], c.2290T>A[p.Y764N], c.2626C>T[p.Q876X], c.933dupC[p.K313Qfs∗28], and c.1067delC[p.A356Efs∗123]); the other five were previously reported (c.1789G>A[p.A597T], c.2566C>T[p.R856C], c.2668G>A[p.V890M], c.2679C>T[p.P893L], and c.1605C>G[p.Y535X]). Regarding the distribution of these mutations, 60.0% were clustered in the ligand-binding domain of AR gene. Exons 1 and 8 of AR gene each accounted for 30.0% (3/10) of all mutations. Most of the truncation mutations were in exon 1 and missense mutations were mainly located in exons 4-8. Our study expands the spectrum of AR gene mutations and confirms the usefulness of AR gene sequencing to support a diagnosis of AIS and to enable prenatal or antenatal screening.

Infective endocarditis during pregnancy

Infective Endocarditis [IE] during pregnancy is a rare but grave condition. The diagnosis and management can be challenging, especially when the pregnant patient warrants a cardiac operation under cardiopulmonary bypass. The present article describes IE during pregnancy based on a series of published case reports in the literature. IE during pregnancy often causes embolic events and mycotic aneurysms. Two-thirds of IE in the pregnant patients requires timely or urgent cardiac surgery to alleviate patients' deterioration. At least a 3-week antibiotic therapy is mandatory before cardiac surgery aiming at improving the patients' conditions. During cardiac surgery, fetal heart rates may temporarily be slowed down but may gradually recover to normal after the operation. The fetal and maternal mortalities were 16.7% and 3.3%, respectively. The fetal deaths were apparently associated with a cardiac surgery during early pregnancy. Cardiopulmonary bypass, hypothermia and rewarming can adversely affect both the mother and the fetus by triggering placental deficits, fetal hypoxia and uterine contraction. Avoidance of cardiac operations before 24[th] gestation week and preferably deferred until after 28[th] gestation week have been a plausible argument as per the possible fetal deaths related to immaturity

Heparin-induced thrombocytopenia associated with cardiopulmonary bypass: Preliminary attempt with recombinant human thrombopoietin therapy

Recombinant human thrombopoietin [rhTPO] is popularly used for the treatment of chemotherapy-induced thrombocytopenia. However, rhTPO therapy for heparin-induced thrombocytopenia relating to cardiopulmonary bypass has not been previously described. A young patient developed heparin-induced thrombocytopenia during open-heart surgery. Postoperative rhTPO therapy [15000 units injection hypodermatica once daily for consecutive 3 days] made a quick platelet recovery without any side effects. Heparin-induced thrombocytopenia associated with cardiopulmonary bypass is more likely to be benign, and is curable to rhTPO therapy. The preliminary rhTPO administration of heparin-induced thrombocytopenia in association with cardiopulmonary bypass shows satisfactory pharmaceutical effects with lower dose, shorter duration treatment and shorter platelet increase time and recovery time in comparison with those for the treatment of chemotherapy-induced thrombocytopenia. rhTPO therapy does not produce any side effects and it could avoid or minimize necessary blood product infusions

Warfarin use and dose adjustment in a patient with mitral valve replacement

Warfarin is an anticoagulant suppressing the synthesis of the specific vitamin K-dependent coagulation factors II, VII, IX and X as well as two vitamin K-dependent plasma proteins C and S. Warfarin therapy may bring about severe consequences including warfarin embryopathy associated with maternal warfarin ingestion, warfarin resistance, excessive anticoagulation and warfarin reversal. A 51-year-old female patient experienced warfarin resistance as well as subsequent excessive coagulation and warfarin reversal. With regulation of warfarin dosage and close monitoring of the international normalized ratio, she eventually obtained a proper target international normalized ratio with stable warfarin dose. The patient was more likely to have an acquired warfarin resistance. To regulate dietary habit might be a good solution for the resistance to this drug. In addition, individualized regimen for warfarin use should be established based on the conditions of individual patient including patient's age, gender, body surface area, dietary habit and target international normalized ratio, etc

Ortner [Cardio-vocal] syndrome: a collective review

To understand the concept of Ortner's [cardio-vocal] syndrome [OCVS], it is necessary to present the up-to-date clinical features and potential management strategies of cardiovascular hoarseness. The medical literature on OCVS published between 1980 and 2011 was comprehensively retrieved and analyzed. The patients who had cardiovascular hoarseness included a total of 256 patients. Hoarseness was the only symptom in 91 [35.27%] patients. The secondary symptoms of patients varied greatly, with dyspnea and dysphagia being the most common manifestations. OCVS is uncommon. Aortic aneurysms of various etiologies are the most common risk factors leading to cardiovascular hoarseness. When a patient presents with hoarseness, one should never overlook the cardiovascular causes, so that misdiagnosis can be avoided and an immediate therapy is started

vitro flow visualization of the pulmonary circulation

Flow field of the pulmonary circulation has been investigated by in vitro pulsatile and steady flow visualization in simulation models. A couple of counter-rotating secondary flows were symmetric about the centerline in the normal valve. As the pulmonic valve became more stenotic, the two counter-rotating secondary flows in both the left pulmonary arteries [LPA] and right pulmonary arteries [RPA] were no longer symmetric. With a normal Hancock porcine aortic valve inside the extracardiac conduit, the flow of the proximal conduit was spiral, and that of the distal portion was axial. In stenosed Hancock porcine aortic valve loaded conduit, the flow was a continuous spiral. Studies on cavopulmonary connection models showed that energy savings were more evident at the 50:50 right / left pulmonary artery ratio, and the energy losses increased in proportion to total flow rates. A 60° to 90° anastomotic angle between the subclavian artery and the graft of Blalock-Taussig shunt could result in favorable pulmonary artery flow distribution and peak pressure. Simulations in the Norwood circulation model showed that larger shunts rendered an increased cardiac output to the lungs. In order to determine the idealistic cardiac surgical technical conditions, in vitro flow visualization study is a primarily useful tool in optimizing the flow and diminishing the energy losses

reappraisal of saphenous vein grafting

Autologous saphenous vein grafting has been broadly used as a bypass conduit, interposition graft, and patch graft in a variety of operations in cardiac, thoracic, neurovascular, general vascular, vascular access, and urology surgeries, since they are superior to prosthetic veins. Modified saphenous vein grafts [SVG], including spiral and cylindrical grafts, and vein cuffs or patches, are employed in vascular revascularization to satisfy the large size of the receipt vessels or to obtain a better patency. A loop SVG helps flap survival in a muscle flap transfer in plastic and reconstructive surgery. For dialysis or transfusion purposes, a straight or loop arteriovenous fistula created in the forearm or the thigh with an SVG has acceptable patency. The saphenous vein has even been used as a stent cover to minimize the potential complications of standard angioplasty technique. However, the use of saphenous vein grafting is now largely diminished in treating cerebrovascular disorders, superior vena cava syndrome, and visceral revascularization due to the introduction of angioplasty and stenting techniques. The SVG remains the preferable biomaterial in coronary artery bypass, coronary ostioplasty, free flap transfer, and surgical treatment of Peyronie disease. Implications associated with saphenous vein grafting in vascular access surgery for the purpose of dialysis and chemotherapy are considerable. Vascular cuffs and patches have been developed as an important and effective means of enhancing the patency rates of the grafts by linking the synthetic material to the receipt vessel. In addition, saphenous veins can be a cell source for tissue engineering. We review the versatile roles that saphenous vein grafting has played as well as its current status in therapy

The bicuspid aortic valve and its relation to aortic dilation

BACKGROUND: A bicuspid aortic valve (BAV) is a common congenital heart disease, which affects 1-2 percent of the population. However, the relationship between BAVs and aortic dilation has not been sufficiently elucidated. METHODS: A total of 241 BAV patients who were referred to this hospital for cardiac surgey over a 4.75-year period were included in this study. In addition to the clinical characteristics of the included patients, the morphological features of the aortic valve and aorta, the length of the left main coronary artery, and the laboratory findings (the coagulation and hematological parameters as well as the total cholesterol concentration) were determined and compared with those of the tricuspid aortic valve (TAV) patients. RESULTS: The BAV patients were younger than the TAV patients for a valve surgery in the last 3 months of the study period. The BAV patients were predominantly male. Most of the BAVs that were surgically treated were stenotic, regurgitant, or combined, and only 19 (7.88 percent) were normally functioning valves. According to echocardiography or operative records, 148 (78.31 percent) were type A, 31 (16.40 percent) were type B, and 10 (5.29 percent) were type C. The left main coronary artery was much shorter in the BAV patients than it was in the TAV patients. There was no significant difference between BAV and TAV patients in the total cholesterol concentrations; whereas differences were noted between patients receiving lipid-lowering therapy and those not receiving lipid-lowering therapy. The dimensions of the aortic root, sinotubular junction, and ascending aorta were beyond normal limits, while they were significantly smaller in the BAV patients than in the TAV patients. They were also much smaller in patients receiving statin therapy than those not receiving statin therapy in both groups. Moreover, the aortic dilation in the BAV group was found to be significantly associated with patient age. CONCLUSIONS: ...