Cervicovaginal (Papanicolaou) smear findings in patients with malignant mixed Müllerian tumors

Malignant mixed Müllerian tumor is a rare neoplasm that occurs most frequently in elderly patients. It is characterized by a mixture of malignant epithelial and sarcomatous components. Little has been published about Papanicolaou smear findings pertaining to malignant mixed Müllerian tumors. We present our experience, with an emphasis on cytologic detail. Nine patients (median age, 65 yr) met our study criteria. All available smears and surgical specimens were reviewed. Four smears were positive for malignancy, with a sensitivity of 44% (3 adenocarcinoma, and 1 squamous-cell carcinoma, small-cell type). The results of our study showed that Papanicolaou smear findings pertaining to malignant mixed Müllerian tumors are seen in patients with advanced-stage disease with involvement of the lower uterine segment or cervix. The usual finding is large numbers of high-grade epithelial malignant cells in a necrotic background. The mesenchymal component rarely sheds cells visible on Papanicolaou smear.     

Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of facial development, which results from mutations in TCOF1. TCS comprises conductive hearing loss, hypoplasia of the mandible and maxilla, downward sloping palpebral fissures and cleft palate. Although, there is usually a reasonable degree of bilateral symmetry, a high degree of both inter- and intrafamilial variability is characteristic of TCS. The wide variation in the clinical presentation of different patients, together with the fact that more than 60% of cases arise de novo, can complicate the diagnosis of mild cases and genetic counselling. In the current study, we describe how molecular techniques have been used to facilitate pre- and postnatal disease diagnoses in 13 TCS families.     

Ethics education in U.S. medical schools: a study of syllabi.

PURPOSE: Despite attempts to describe the "ideal" medical ethics curriculum, few data exist describing current practices in medical ethics education to guide curriculum directors. This study aimed to determine the scope and content of required, formal ethics components in the curricula of U.S. medical schools. METHOD: A questionnaire sent to all curriculum directors of four-year medical schools in the U.S. (n = 121) requested course syllabi for all required, formal ethics components in the four-year curriculum. Syllabi were coded and analyzed to produce a profile of course objectives, teaching methods, course contents, and methods for assessing students. RESULTS: Questionnaires were returned by 87 representatives of the schools (72%). A total of 69 (79%) required a formal ethics course, and 58 (84%) provided their ethics course syllabi. Analysis and codification of all syllabi identified ten course objectives, eight teaching methods, 39 content areas, and six methods of assessing students. The means for individual schools were three objectives, four teaching methods, 13 content areas, and two methods of assessment. The 58 syllabi either required or recommended 1,191 distinct readings, only eight of which were used by more than six schools. CONCLUSIONS: Ethics education is far from homogeneous among U.S. medical schools, in both content and extensiveness. While the study of syllabi demonstrates significant areas of overlap with recent efforts to identify an "ideal" ethics curriculum for medical students, several areas of weakness emerged that require attention from medical educators.     

Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly,asymmetric polymicrogyria,and cutaneous pigmentary mosaicism: Case report and review of the literature

Genetic alterations leading to overactivation of mammalian target of rapamycin (mTOR) signaling result in brain overgrowth syndromes such as focal cortical dysplasia (FCD) and megalencephaly. Megalencephaly with cutis tri‐color of the Blaschko‐linear type pigmentary mosaicism and intellectual disability is a rare neurodevelopmental disorder attributed to the recurrent mosaic c.5930C > T (p.Thr1977Ile) MTOR variant. This variant was previously reported at low to intermediate levels of mosaicism in the peripheral blood of three unrelated individuals with consistent clinical findings. We report a fourth case of a 3‐year‐old female presenting with megalencephaly, obstructive hydrocephalus due to cerebral aqueductal stenosis, asymmetric polymicrogyria, dysgenesis of the corpus callosum, hypotonia, developmental delay, and cutaneous pigmentary mosaicism. Oligonucleotide and SNP chromosomal microarray (CMA), karyotype, and trio whole exome sequencing (WES) in the peripheral blood, as well as a targeted gene variant panel from fibroblasts derived from hyperpigmented and non‐hyperpigmented skin did not detect any abnormalities in MTOR or other genes associated with brain overgrowth syndromes. Unlike the previously reported cases, the de novo c.5930C > T (p.Thr1977Ile) MTOR variant was detected at 32% mosaicism in our patient only after WES was performed on fibroblast‐derived DNA from the hyperpigmented skin. This case demonstrates the tissue variability in mosaic expression of the recurrent p.Thr1977Ile MTOR variant, emphasizes the need for skin biopsies in the genetic evaluation of patients with skin pigmentary mosaicism, and expands the clinical phenotype associated with this pathogenic MTOR variant.     

Enhanced pancreatic and skin tumorigenesis in cabbage-fed hamsters and mice

Studies were conduded to evaluate the ability of dietary driedcabbage supplements to inhibit pancreatic carcinogenesis inhamsters and skin tumorigenesis in mice. Pancreatic cancer wasinduced by treatment with 40 mg/kg body wt N-nitrosobis-(2oxopropyl)amine(BOP). Cabbage was fed from before carcinogen treatment in lowfat diet and, beginning 1 week after BOP treatment, cabbagewas given in low fat and high fat diets in comparison with therespective non-cabbage containing diets. Dried cabbage was incorporatedat 9 and 11% levels into the low and high fat diets. Feedingcabbage in the high fat diet elevated the yield of BOP-inducedpancreatic ductular cardnoma (1.6 carcinomas/effedive animal)in comparison with that observed in hamsters fed cabbage ina low fat diet or in those given a high fat diet without cabbage, 0.6–0.8 carcinomaa/effedive animal (P 0.05). Furthermore,the incidence of BOP-induced gall bladder adenocadnomm was elevatedin cabbage-fed hamsters irrespedve of dietary fat intake. Effetsof dietary fat and cabbage on food consumption, body weight,and serum T₃ and T₄ values are described. Skin tumorigenesiswas induced in SENCAR mice by 10 nmd 7,12 dlmethylbenz[a]anthracene(DMBA) and promoted beginning 1 week later with twice weeklyapplications of 2 µg 12-O-tetradecanoyl-13-phorbol acetate(TPA). Dried cabbage was incorporated into AIN semi-purifieddiets from before DMBA treatment and throughout TPA treatment.Skin papilloma yield was elevated in DMBA-initiated TPA-promotedmice that were fed diets containing 10% cabbage. Mice fed cabbagedeveloped an average of 8.45 papillomas per mouse following22 weeks of promotion while mice given control diet developed7.25 papillomas per mouse (P < 0.001). Cabbage feeding didnot influence survival, food consumption or body weight of themice. These results suggest the need for further research onthe use of cabbage as a chemopreventive measure.     

Exploring professional identity in rehabilitation professions: a scoping review

Advances in Health Sciences Education - Professional identity is believed to foster self-confidence and resilience in health care professionals. While literature exists describing professional...