Extra-Intestinal Manifestations of Familial Adenomatous Polyposis

Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disorder, which results from a germ line mutation in the APC (adenomatous polyposis coli) gene. FAP is characterized by the formation of hundreds to thousands of colorectal adenomatous polyps. Although the development of colorectal cancer stands out as the most prevalent complication, FAP is a multisystem disorder of growth. This means, it is comparable to other diseases such as the MEN syndromes, Von Hippel-Lindau disease and neurofibromatosis. However, the incidence of many of its clinical features is much lower. Therefore, a specialized multidisciplinary approach to optimize health care—common for other disorders—is not usually taken for FAP patients. Thus, clinicians that care for and counsel members of high-risk families should have familiarity with all the extra-intestinal manifestations of this syndrome. FAP-related complications, for which medical attention is essential, are not rare and their estimated lifetime risk presumably exceeds 30%. Affected individuals can develop thyroid and pancreatic cancer, hepatoblastomas, CNS tumors (especially medulloblastomas), and various benign tumors such as adrenal adenomas, osteomas, desmoid tumors and dental abnormalities. Due to improved longevity, as a result of better prevention of colorectal cancer, the risk of these clinical problems will further increase

Turner syndrome and sexual differentiation of the brain: implications for understanding male-biased neurodevelopmental disorders

Turner syndrome (TS) is one of the most common sex chromosome abnormalities. Affected individuals often show a unique pattern of cognitive strengths and weaknesses and are at increased risk for a number of other neurodevelopmental conditions, many of which are more common in typical males than typical females (e.g., autism and attention-deficit hyperactivity disorder). This phenotype may reflect gonadal steroid deficiency, haploinsufficiency of X chromosome genes, failure to express parentally imprinted genes, and the uncovering of X chromosome mutations. Understanding the contribution of these different mechanisms to outcome has the potential to improve clinical care for individuals with TS and to better our understanding of the differential vulnerability to and expression of neurodevelopmental disorders in males and females. In this paper, we review what is currently known about cognition and brain development in individuals with TS, discuss underlying mechanisms and their relevance to understanding male-biased neurodevelopmental conditions, and suggest directions for future research

Physician Language Ability and Cultural Competence: An Exploratory Study of Communication with Spanish-speaking Patients

OBJECTIVE: We studied physician–patient dyads to determine how physician self-rated Spanish-language ability and cultural competence affect Spanish-speaking patients’ reports of interpersonal processes of care. SETTING/PARTICIPANTS: Questionnaire study of 116 Spanish-speaking patients with diabetes and 48 primary care physicians (PCPs) at a public hospital with interpreter services. MEASURES: Primary care physicians rated their Spanish ability on a 5-point scale and cultural competence by rating: 1) their understanding of the health-related cultural beliefs of their Spanish-speaking patients; and 2) their effectiveness with Latino patients, each on a 4-point scale. We assessed patients’ experiences using the interpersonal processes of care (IPC) in diverse populations instrument. Primary care physician responses were dichotomized, as were IPC scale scores (optimal vs nonoptimal). We analyzed the relationship between language and two cultural competence items and IPC, and a summary scale and IPC, using multivariate models to adjust for known confounders of communication. RESULTS: Greater language fluency was strongly associated with optimal IPC scores in the domain of elicitation of and responsiveness to patients, problems and concerns [Adjusted Odds Ratio [AOR], 5.25; 95% confidence interval [CI], 1.59 to 17.27]. Higher score on a language-culture summary scale was associated with three IPC domains – elicitation/responsiveness (AOR, 6.34; 95% CI, 2.1 to 19.3), explanation of condition (AOR, 2.7; 95% CI, 1.0 to 7.34), and patient empowerment (AOR, 3.13; 95% CI, 1.2 to 8.19)—and not associated with two more-technical communication domains. CONCLUSION: Physician self-rated language ability and cultural competence are independently associated with patients’ reports of interpersonal process of care in patient-centered domains. Our study provides empiric support for the importance of language and cultural competence in the primary care of Spanish-speaking patients