Ductal Carcinoma In Situ (DCIS) Diagnosed by MRI-Guided Biopsy among BRCA1/BRCA2 Mutation Carriers.

Background: While BRCA1/BRCA2 pathogenic sequence variants (PSVs) clearly confer an increased risk for invasive breast cancer, the extent to which these mutant alleles increase DCIS risk is less clear. Objective: To assess the rate of detection over a 5-year period, and MRI imaging features of pure noncalcified DCIS in a cohort of Israeli BRCA1/BRCA2 PSV carriers attending a high-risk clinic from 2015 to 2020. Materials and Methods: All female BRCA1/BRCA2 PSV-carriers followed at the Meirav High-risk clinic from 2015 to 2020 were eligible if they underwent semiannual breast imaging (MRI/mammography) and MRI-guided biopsy-proven pure DCIS. Clinical data, pathology information, and imaging characteristics were retrieved from the computerized archiving system. Results: 18/121 (15.2%) participating BRCA1 PSV carriers and 8/81 (10.1%) BRCA2 PSV-carriers who underwent MRI-guided biopsy were diagnosed with DCIS. The median age of BRCA1 carriers and BRCA2 carriers was 49.8 years and 60.6 years, respectively (p = 0.55). Negative estrogen-receptor tumors were diagnosed in 13/18 (72%) BRCA1 and 2/8 (25%) BRCA2 PSV carriers (p < 0.05). Thirteen (13/18-72%) BRCA1 carriers had intermediate to high-grade or high-grade DCIS compared with 4/8 (50%) of BRCA2 carriers (p = 0.03). Over the 5-year study period, 29/1100 (2.6%) BRCA1/BRCA2 PSV carriers were diagnosed with DCIS seen on MRI only. Conclusion: MRI-detected noncalcified DCIS is more frequent in BRCA1 PSV carriers compared with BRCA2 carriers, unlike the BRCA2 predominance in mammography-detected calcified DCIS. BRCA1-related DCIS is diagnosed earlier, more likely to be estrogen receptor-negative and of higher grade compared with BRCA2-related DCIS. Future prospective studies should validate these results and assess the actual impact they might have on clinical management of BRCA PSV carriers.

Kelly Punch Punctoplasty and Simple Punctal Dilatation Are Equally Effective for Punctal Stenosis: A Prospective Study.

PURPOSE: To examine the clinical, imaging, and histopathologic differences between Kelly punch punctoplasty and punctal dilatation, both with mini Monoka stent insertion. METHODS: This is a prospective, comparative clinical study. Patients with bilateral punctal stenosis and for whom surgery was advised participated in the study. The right eye underwent Kelly punch punctoplasty and the left eye simple punctal dilatation, both with mini Monoka stents were participated. Data were collected and analyzed before and 3 months following the procedure and included the degree of epiphora (Munk score) and punctal size as measured by anterior segment optical coherence tomography (AC- OCT). All specimens removed by the Kelly punch punctoplasty were sent for histopathologic evaluation, including Masson's trichome muscle staining. RESULTS: The study included 46 eyes of 23 patients (4 males and 19 females) whose mean age at presentation was 60.43 ± 14.81 years (range 19-84 years). There was a significant decrease in the Munk score after both punctoplasties compared with baseline values (P < 0.01, matched pairs). There were no significant differences between groups in the delta Munk score. There was a significant increase in punctal size after both procedures compared with baseline values as measured by AS-OCT. Horner-Duverney's muscle was visible in only 3 of the 23 (13.04%) specimens from patients who underwent the Kelly punch punctoplasty. CONCLUSIONS: The Kelly punch punctoplasty and the simple dilator punctoplasty, both with stents, are equally effective treatments for epiphora due to acquired punctal stenosis. Only a few specimens removed during the Kelly punch method show muscle fibers.

Pregnancy Associated Breast Cancer Among Israeli BRCA1/BRCA2 Carriers in a High-Risk Clinic.

RATIONALE AND OBJECTIVES: Female carriers of pathogenic sequence variants (PSVs) in the BRCA1 /BRCA2 (Breast Cancer gene - BRCA) genes are at a substantially high-risk for developing breast cancer (BC), hence are offered active surveillance scheme based on semiannual breast exam and imaging from age 25 years to facilitate BC early detection (mammography/breast ultrasound depending on the age, and MRI). However, there are not specific guidelines for screening in case of pregnancy or lactation. In the current study, we summarize the experience at the largest high-risk clinic in Israel. MATERIALS AND METHODS: Data of consecutive BRCA-PSV carriers undergoing surveillance as well as diagnostic ultrasound at the Meirav high-risk clinic from January 2014 to 2021 who were pregnant and/or breastfeeding at time of follow-up were identified. Relevant clinical data including results of breast exam, breast ultrasonography, biopsies and histological results were retrieved. Percentage of biopsies with malignancy, cancer detection rate and positive predictive values were calculated. Data is presented in descriptive statistics. RESULTS: A total of 263 BRCA-carriers were included. Of these, 593 breast-ultrasonograms were performed in 263 BRCA-carriers for 292 pregnancies and 409 breast-ultrasonograms for 175 breastfeeding carriers. Of 36 breast biopsies in 292 pregnancies, 4 (PPV = 11%) had BC diagnosed (high grade invasive). Of 175 breastfeeding women, 25 biopsies were performed and 2 (PPV = 8%) were high grade invasive BC. Five of 6 BC were diagnosed in BRCA1 carriers, and 4/6 were screen detected. The rate of pregnancy-associated breast cancer was 6/292 (2.05%). CONCLUSION: The overall detection rate of pregnancy-associated BC in BRCA-carriers is relatively low (2.05%), but still much higher than that in the general population. Two thirds of the BC were detected by screening. Therefore, despite the changes of the glandular breast tissue at time of pregnancy and breastfeeding, screening plays an important role in early detection. Ultrasound should be considered as a screening tool during this period of life of high-risk patients.

The clinical and histopathological characteristics of Kelly punch punctoplasty.

PURPOSE: To examine the clinical presentation, histopathological characteristics and surgical success of patients that underwent Kelly punch punctoplasty. METHODS: A retrospective consecutive case series of all patients diagnosed with punctal stenosis and referred to Kelly punch punctoplasty and mini-monoka insertion between January 2017 and December 2017. The demographic, clinical and prognosis parameters were retrieved and analyzed. Moreover, a histopathological examination was performed on the tissue retrieved from the Kelly punch at the end of the procedure in order to evaluate the presence of muscle in the tissue, as well as chronic inflammation. RESULTS: The series was composed of 44 eyes of 28 patients. All patients' complaints prior to surgery were epiphora: 18 patients had bilateral epiphora, 5 presented with right-eye epiphora and 5 with left-eye epiphora. The average Munk degree of epiphora before surgery was 3 and at least 3 months after surgery 1.04 (matched pairs, p < 0.0001). Two patients underwent the second punctoplasty. In haematoxylin and eosin staining, the Riolan muscle was not visible in the mucosal layer in 40 specimens. In four specimens, the muscle was observed. A Masson's trichrome staining ensured that the Riolan muscle existed only in those four specimens. DISCUSSION: Kelly punch punctoplasty is a simple and minimally invasive procedure for punctal dilation with high functional success rate. Moreover, in histopathological specimens, in all but four of the cases there was no muscle indicated. Intact Riolan muscle enables the punctum to stay in the right circular shape and position, and the lacrimal pump to maintain its pressure gradient.

Outcomes after Surgery for Early Stage Breast Cancer in Women Staged With Preoperative Breast Magnetic Resonance Imaging According to Breast Tissue Density.

PURPOSE: To determine surgical outcomes and breast cancer disease-free survival outcomes of women with early stage breast cancer with and without use of preoperative breast MRI according to breast tissue density. METHODS: Women with early stage breast cancer diagnosed from 2004 to 2009 were classified into 2 groups: 1) those with dense and heterogeneously dense breasts (DB); 2) those with nondense breasts (NDB) (scattered fibroglandular and fatty replaced tissue). The 2 groups were reviewed to determine who underwent preoperative MRI. Breast tissue density was determined with mammography according to ACR BI-RADS. Patients were compared according to tumor size, grade, stage, and treatment. Survival analysis was performed using Kaplan-Meier estimates. RESULTS: In total, 261 patients with mean follow-up of 85 months (25-133) were included: 156 DB and 105 NDB. Disease-free survival outcomes were better in the DB group in patients with MRI than in those without MRI: patients with MRI had significantly fewer local recurrences (P < 0.016) and metachronous contralateral breast cancers (P < 0.001), but this was not the case in the NDB group. Mastectomies were higher in the DB group with preoperative MRI than in those without MRI (P < 0.01), as it was in the NDB group (P > 0.05). CONCLUSIONS: Preoperative breast MRI was associated with reduced local recurrence and metachronous contralateral cancers in the DB group, but not in the NDB group; however, the DB patients with MRI had higher mastectomy rates.

Ciliated hepatic foregut cyst with high intra-cystic carbohydrate antigen 19-9 level.

A ciliated hepatic foregut cyst (CHFC) is a rare foregut developmental malformation usually diagnosed in adulthood. Five percent of reported cases of CHFC transform into squamous cell carcinoma. We report the presentation, evaluation, and surgical management of a symptomatic 45-year-old male found to have a 6.2 cm CHFC. Contrast tomography-guided fine-needle aspiration demonstrated columnar, ciliated epithelium consistent with the histologic diagnosis of CHFC. The intracystic levels of carbohydrate antigen (CA) 19-9 and carcinoembryonic antigen (CEA) were extremely high (978118 U/mL and 973 µg/L, respectively). Histologically, the wall of the cyst showed characteristic pseudopapillae lined with a ciliated stratified columnar epithelium, underlying smooth muscle, an outer fibrous layer and no atypia. Immunohistochemistry for CA19-9 and CEA was positive. This is the first case report of a CHFC in which levels of CA 19-9 and CEA were measured. Our findings suggest that a large sized multilocular cyst and elevated cyst CA19-9 and CEA levels do not exclude a CHFC from consideration in the diagnosis. CHFCs should be included in the differential diagnosis of hepatic lesions. Accurate diagnosis of a CHFC is necessary given its potential for malignant transformation, and surgical excision is recommended.

Adenocarcinoma de yeyuno: a propósito de un caso / Yeyuno adenocarcinoma: to purpose of a case

Los tumores primarios malignos del intestino delgado son un grupo heterogéneo y poco comunes comparados a tumores en otras localizaciones de tracto gastrointestinal. Son asociados tradicionalmente a un pobre pronóstico. Presentamos un caso de ADC yeyunal, en el cual se evidenció la presentación tardía de los síntomas, con un diagnóstico difícil por métodos convencionales. Se revisa literatura médica

Diabetes mellitus como factor de riesgo para la disfunción sexual erectil en pacientes de 30 a 60 años de edad del Hospital Universitario de Caracas en el período 1999-2002 / Diabetes mellitus with risk factor for the sexual inpotence in patients of 30 to 60 year of age of Caracas Universitary Hospital in the period 1999-2002

La disfunción sexual eréctil se define como la incapacidad de tener o mantener una erección del pene que sea suficiente para la penetración vaginal y para permitir un acto sexual satisfactorio. Para que esta erección se logre deben interactuar varios factores vasculares, neurológicos y bioquímicos. Las enfermedades que provoquen alteración de estos factores conllevan a la aparición de disfunción eréctil, entre ellas tenemos a la diabetes mellitus, causante de trastornos microvasculares, neurológicos, bioquímicos, hormonales y metabólicos. Existen referencias de que en un 30 por ciento y cincuenta por ciento de los hombres diabéticos desarrollan disfunción sexual, eréctil, tras 10 años de evolución, independientemente del tipo de diabetes que tengan. Se propuso como objetivo determinar la asociación de diabetes mellitusy disfunción sexual eréctil, a través de un estudio prospectivo de casos y controles, demostrándose que la diabetes aumentaba el riesgo de adquirir la disfunción eréctil entre 2,47 y 13,6 veces, con un RR= 5,8, y se le calculó un riesgo atribuible de 0,187, concluyendo que la diabetes mellitus es un fuerte factor de riesgo para el desarrollo de la enfermedad, causante de 18,7 por ciento de los casos de la disfunción eréctil, cifra inferior a los de otros estudios anteriores (30-50 por ciento)