Synchronous Bilateral Breast Carcinoma in a Patient with Cowden Syndrome: A Case Report with Morphologic,Immunohistochemical and Genetic Analysis

Abstract: Synchronous bilateral breast carcinoma (SBBC) and early onset are important characteristics of hereditary cases. The lifetime risk for breast carcinoma in Cowden syndrome (CS) is estimated to be 25–50%. We reported a 44‐year‐old woman presenting SBBC and characteristic mucocutaneous lesions of CS, confirmed by PTEN gene mutation analysis. Bilateral modified mastectomy and axillary dissection were performed. Histopathologic examination revealed a moderate‐differentiated invasive ductal carcinoma with mixed features of luminal A immunophenotype (Estrogen and/or Progesterone Receptors >50% and/or Ki67 < 30% of positive cells). The skin lesions showed the characteristic findings of tricholemmoma. Lack of PTEN expression was observed in all specimens. Sequencing analysis confirmed the presence of PTEN splice‐acceptor site mutation in intron 8 (c.1027‐2A>G), a germline mutation which had not been previously reported in CS. The patient received adjuvant chemotherapy and tamoxifen for 5 years. After 5 years of follow‐up, she persists recurrence‐free. SBBC with early onset suggests a hereditary predisposition. Thus, analysis of PTEN expression abnormality, easily assessed by immunohistochemistry, may be of clinical value to screen those patients with CS.     

Impact of interpreters' approach on Latinas' use of amniocentesis.

Communication difficulties in multicultural clinical settings can be exacerbated by translators, but their actual impact on medical decisions has not been systematically evaluated. This study sought to determine the influence of translators participating in clinical encounters in which English-speaking clinicians offered amniocentesis to Spanish-speaking women by conducting systematic observations of 61 prenatal genetic consultations and recording translators' training and background characteristics and patients' amniocentesis decisions. Translators' behavioral styles were classified according to 10 inductively determined criteria. Translators' approaches were classified as Distant, Authoritative, or Missionary. Whereas the first category remained emotionally detached, the others sought to build rapport and trust with the patient. Quantitative analysis revealed statistically significant associations between translation styles that sought to engender trust and likelihood the pregnant woman agreed to amniocentesis. The authors conclude that translators' affective approaches can influence whether patients accept or decline amniocentesis.     

Patient expectations of radiology in noninteractive encounters

Open-ended interviews with 107 patients documented specific patient expectations of radiologic procedures during which there was no direct radiologist-patient interaction. Patient expectations could be classified into those related to the facility and those related to interactions with radiology staff. Among facility-related expectations, waiting time far outweighed all other concerns. Interpersonal skills were the predominant expectation of radiology staff. The role of the radiologist in fulfilling patient expectations was less clear. Only 10% of unprompted patients cited the radiologist as a factor in their expectations. When patients were specifically prompted to discuss the radiologist's role, communication skills, accuracy of interpretation, and interpersonal skills were the predominant concerns.     

Myocardial tagging in polar coordinates with use of striped tags

Regional deformation abnormalities in the heart wall provide a good indicator of ischemia. Myocardial tagging with magnetic resonance imaging is a new method of assessing heart wall motion during contraction. Current methods of myocardial tagging either do not provide two-dimensional information or lack a coordinate system well adapted to the morphology of the heart. In this article, the authors describe a new tagging method that provides a true polar coordinate system, with both radial and angular dimensions. This is accomplished with use of a section-selective version of spatially modulated magnetization resulting in striped tags (STAGs). These STAG planes are placed in the myocardium in a star pattern so that they intersect on the long axis of the heart and stripes appear through the width of the heart wall. In the short-axis view during contraction, rotation around the long axis yields angular information such as shear and twist, while separation of the stripes within the myocardium permits measurement of radial thickening. Therefore, this method provides a coordinate system for calculating two-dimensional strain that is adapted to the morphology of the left ventricle.     

Rate of bone loss is associated with mortality in older women: a prospective study.

Older women with low bone density have an increased risk of fracture, cardiovascular disease, and mortality. However, it is not known whether this association is caused by ongoing bone loss or by lower bone mass earlier in life. To determine whether rate of bone loss is associated with total and cause-specific mortality, we prospectively studied 6046 women aged 65 years or older who had serial bone mineral density (BMD) measurements as a part of the Study of Osteoporotic Fractures. Rates (mean +/- SD) of loss of BMD at the heel (for a mean of 5.7 years) and hip (for a mean of 3.5 years) were estimated. Cause-specific mortality was ascertained from death certificates and hospital records. BMD loss at the heel was 5.9 +/- 6.0 mg/cm2 per year (1.5 +/- 1.5%) and BMD loss at the hip was 4.1 +/- 10.2 mg/cm2 per year (0.6 +/- 1.4%). During an average follow-up of 3.2 years after the second measurement of BMD, 371 deaths occurred. Each SD increase in BMD loss at the hip was associated with a 1.3-fold (95% CI, 1.1-1.4) increase in total mortality, adjusted for age, baseline BMD, diabetes, hypertension, incident fractures, smoking, physical activity, health status, weight loss, and calcium use. In particular, hip BMD loss was associated with increased mortality from coronary heart disease (relative hazard [RH] = 1.3 per SD; 95% CI, 1.0-1.8) and pulmonary diseases (RH = 1.6 per SD; 95% CI, 1.1-2.5). The findings were similar for bone loss at the heel, except there was no significant association with pulmonary mortality. These results raise the possibility that bone loss may share common etiologies with coronary and pulmonary diseases.     

Ethnicity, bioethics, and prenatal diagnosis: the amniocentesis decisions of Mexican-origin women and their partners.

Bioethical standards and counseling techniques that regulate prenatal diagnosis in the United States were developed at a time when the principal constituency for fetal testing was a self-selected group of White, well-informed, middle-class women. The routine use of alpha-fetoprotein (AFP) testing, which has become widespread since the mid-1980s, introduced new constituencies to prenatal diagnosis. These new constituencies include ethnic minority women, who, with the exception of women from certain Asian groups, refuse amniocentesis at significantly higher rates than others. This study examines the considerations taken into account by a group of Mexican-origin women who had screened positive for AFP and were deciding whether to undergo amniocentesis. We reviewed 379 charts and interviewed 147 women and 120 partners to test a number of factors that might explain why some women accept amniocentesis and some refuse. A woman's attitudes toward doctors, medicine, and prenatal care and her assessment of the risk and uncertainty associated with the procedure were found to be most significant. Case summaries demonstrate the indeterminacy of the decision-making process. We concluded that established bioethical principles and counseling techniques need to be more sensitive to the way ethnic minority clients make their amniocentesis choices.     

Radiation exposure to the surgeon during closed interlocking intramedullary nailing

During interlocking intramedullary nailing of twenty-five femoral and five tibial fractures, the primary surgeon wore both a universal film badge on the collar of the lead apron and a thermoluminescent dosimeter ring on the dominant hand to quantify the radiation that he or she received. When distal interlocking was performed, the first ring was removed and a second ring was used so that a separate recording could be made for this portion of the procedure. At the conclusion of the study, all of the recorded doses of radiation were averaged. The average amount of radiation to the head and neck during the entire procedure was 7.0 millirems of deep exposure and 8.0 millirems of shallow exposure. The average dose of radiation to the dominant hand during insertion of the intramedullary nail and the proximal interlocking screw was 13.0 millirems, while the average amount during insertion of the distal interlocking nail was 12.0 millirems. Both of these averages are well within the government guidelines for allowable exposure to radiation during one-quarter (three months) of a year. Precautions that are to be observed during this procedure are recommended.     

应用Heath-Carter体型法分析辽西地区城市汉族儿童青少年1263名体型特征

目的:分析辽西地区城市汉族儿童青少年的体型发育规律和特点,为体质人类学补充必要的数据。方法:按整群分层抽样法,抽取2001-07/2003-09辽西地区城市7所中小学7～19岁经学校正常体质检查证明身体健康的汉族学生,按性别分两大组,每大组按年龄分12小组,7～18岁每岁为1个年龄组,18～19岁为1个年龄组,每小组45～86名,共分24组,搜集完整资料1263名(男657名,女606名)。采用Heath-Carter体型法,每项指标测量2次,取平均值,10项指标由专人负责,测试数据按年龄和性别在微机中建立数据库,依次计算出各年龄组的内因子、中因子和外因子,体型图上的X,Y坐标值,身高/体质量1/3,样本中平均体型点到所有体型点空间距离的均数,三维空间中两个体型点间的差异,体脂含量和各类体型分布频数。结果:参加调查1263名,均进入结果分析。①7～17岁儿童青少年身高、体质量随年龄的增加而增长。平均身高、体质量男生大于女生。身高/体质量1/3指数除14,16和17岁外,各年龄组女生>男生,平均值女生>男生。体脂含量11岁以前男生>女生,12岁以后女生>男生。②辽西地区城市汉族男生的平均体型值为3.9-3.5-3.4,属中间型,女生平均体型值为4.3-2.9-3.6,属偏外胚层的内胚层体型。体型频数的变化提示辽西城市汉族男生体型分布较散,女生分布较集中,主要在内胚层体型。③内因子男生在3.18～4.81,女生在3.05～5.33,11岁以前男生>女生,12岁以后女生>男生;中因子男生在3.02～4.23,女生在2.54～3.42,除16岁男女相差不多外,其他年龄组男生>女生,外因子男生在2.64～4.22,女生在2.92～4.14,13岁以前女生>男生,14岁以后男生>女生。因此,男生较女生骨骼粗壮,肌肉发达,随着年龄的增长,女生的皮下脂肪更发达,体态丰满,男生的身体相对瘦高程度增长,身材修长。男女各年龄组间体型比较,7～,8～,9～,10～,11～,12～,13～,14～,15～,16～,17～,18～19岁三维空间中两个体型点间的差异值分别为0.95,0.85,1.10,1.06,1.37,0.43,0.87,1.44,1.42,1.12,1.11,1.33,7～,8～,12～,14～,17～,18～19年龄组男女间体型差异有显著性(t=2.07,4.09,3.12,3.86,3.39,3.99,P<0.05)。④与国内汉族及其他少数民族相比,辽西汉族男生体脂最多,骨骼肌肉不发达,身体相对矮小;辽西地区汉族女生体脂较多,骨骼肌肉不发达,体型修长。结论:辽西地区城市男生较女生骨骼粗壮,肌肉发达,随着年龄的增长,女生的皮下脂肪更发达,体态丰满,男生的身体相对瘦高程度增长,身材修长。与国内汉族及其他少数民族相比,辽西地区城市汉族儿童青少年体脂发育较好,骨骼肌肉欠发达,青春期是形成健壮体型的关键时期,辽西地区城市儿童青少年应注意合理饮食和加强体育锻炼。     

Multilocus Analyses Reveal Involvement of the ESR1, ESR2, and FSHR Genes in Migraine

Objective.— Female hormone genes have been investigated in migraine in recent years. Research in this field has been controversial, especially in regard to ESR1 gene findings. None of the reports have yet to approach the problem from a multigenic point of view. Methods.— We investigated 5 polymorphisms implicated in female hormone metabolism (FSHR, CYP19A1, ESR1, NRIP1, and ESR2) in a cohort of 730 subjects matched for age and sex. The effect of gene–gene interaction was assessed using the set association approach, and the corresponding haplotypes were studied with PM Plus software. To corroborate initial results, we analyzed the selected markers using a cohort of 134 families in which 168 trios were suitable for transmission‐disequilibrium test (TDT) analysis under the migraine with aura (MA) phenotype. Results.— A total of 356 consecutive migraine patients (198 with MA [76% females] and 158 migraine without aura [MO, 74% females], and 374 matched controls [71% females]) were genotyped. In the 2‐point analyses, the ESR1 and ESR2 polymorphisms showed nominal association under MA/MO phenotype, and this association was higher with the FSHR polymorphism in MA females (P = .004, uncorrected). Using the SUMSTAT program, we observed ESR2‐ESR1‐FSHR significant gene–gene interaction, suggesting association with the MA/MO phenotype (P = .005; P = .003 in females), and with MA alone (P = .021; P = .030 for females). We corroborated that ESR2‐ESR1‐FSHR haplotypes interacted for migraine under a model‐free hypothesis (empirical P = .010 for the whole sample; P = .001 for females), and the association was stronger for the MA phenotype alone (empirical P = 5.0e‐4, under the heterogeneity model; P = .001 for females). These results were corroborated using family‐based association approaches. We observed nominal association for ESR2 and ESR1 (P = .031 and .034, respectively) in the TDT study, and significant association for ESR1 using family‐based association test statistics. Haplotype‐TDT analyses showed further significant gene–gene interaction for ESR1‐ESR2 (global P = .009), ESR2‐FSHR (global P = .011), and nominally significant interaction for ESR2‐ESR1‐FSHR genes (global P = .037). Conclusion.— We found significant association of female hormone metabolism polymorphisms under the perspective of multigene approach.