Frequency of Cystic Fibrosis Transmembrane Conductance Regulator Variants in Individuals Evaluated for Primary Ciliary Dyskinesia.

OBJECTIVE: To evaluate whether cystic fibrosis transmembrane conductance regulator (CFTR) variants are more common among individuals tested for primary ciliary dyskinesia (PCD) compared with controls. STUDY DESIGN: Data were studied from 1021 individuals with commercial genetic testing for suspected PCD and 91 777 controls with genetic testing at the same company (Invitae) for symptoms/diseases unrelated to PCD or CFTR testing. The prevalence of CFTR variants was compared between controls and each of 3 groups of individuals tested for PCD (PCD-positive, -uncertain, and -negative molecular diagnosis). RESULTS: The prevalence of 1 pathogenic CFTR variant was similar among the individual groups. When combining the PCD-uncertain and PCR-negative molecular diagnosis groups, there was a higher prevalence of single pathogenic CFTR variants compared with controls (P = .03). Importantly, >1% of individuals who had negative genetic testing results for PCD had 2 pathogenic CFTR variants (8 of 723), and the incidence of cystic fibrosis (CF) (2 pathogenic variants) is roughly 1 in 3000 individuals of Caucasian ethnicity (∼0.03%). This incidence was also greater than that of 2 pathogenic CFTR variants in the control population (0.09% [84 of 91 777]; P = 9.60 × 10-16). These variants correlate with mild CFTR-related disease. CONCLUSIONS: Our results suggest that a single pathogenic CFTR variant is not likely to be a PCD-mimetic, but ongoing studies are needed in individuals in whom PCD is suspected and genetic testing results are uncertain or negative. Furthermore, CF may be misdiagnosed as PCD, reflecting phenotypic overlap. Among individuals evaluated for PCD, CF should be considered in the differential even in the CF newborn screening era.

Assessment of graduate public health education in Nepal and perceived needs of faculty and students.

BACKGROUND: Despite the large body of evidence suggesting that effective public health infrastructure is vital to improving the health status of populations, many universities in developing countries offer minimal opportunities for graduate training in public health. In Nepal, for example, only two institutions currently offer a graduate public health degree. Both institutions confer only a general Masters in Public Health (MPH), and together produce 30 graduates per year. The objective of this assessment was to identify challenges in graduate public health education in Nepal, and explore ways to address these challenges. METHODS: The assessment included in-person school visits and data collection through semi-structured in-depth interviews with primary stakeholders of Nepal's public health academic sector. The 72 participants included faculty, students, alumni, and leaders of institutions that offered MPH programs, and the leadership of one government-funded institution that is currently developing an MPH program. Data were analyzed through content analysis to identify major themes. RESULTS: Six themes characterizing the challenges of expanding and improving graduate public health training were identified: 1) a shortage of trained public health faculty, with consequent reliance on the internet to compensate for inadequate teaching resources; 2) teaching/learning cultures and bureaucratic traditions that are not optimal for graduate education; 3) within-institution dominance of clinical medicine over public health; 4) a desire for practice-oriented, contextually relevant training opportunities; 5) a demand for degree options in public health specialties (for example, epidemiology); and 6) a strong interest in international academic collaboration. CONCLUSION: Despite an enormous need for trained public health professionals, Nepal's educational institutions face barriers to developing effective graduate programs. Overcoming these barriers will require: 1) increasing the investment in public health education and 2) improving the academic environment of educational institutions. Long term, committed academic collaborations with international universities may be a realistic way to: 1) redress immediate inadequacies in resources, including teachers; 2) encourage learning environments that promote inquiry, creativity, problem-solving, and critical thinking; and 3) support development of the in-country capacity of local institutions to produce a cadre of competent, well-trained public health practitioners, researchers, teachers, and leaders.

Effect of an STD/HIV behavioral intervention on women's use of the female condom.

OBJECTIVES: This study assessed the effectiveness of a sexually transmitted disease (STD)/HIV behavior change intervention in increasing women's use of the female condom. METHODS: A total of 604 women at high risk for STDs and HIV in New York City, Baltimore, Md, and Seattle, Wash, enrolled in a randomized controlled trial of a small-group, skills-training intervention that included information and skills training in the use of the female condom. RESULTS: In a logistic regression, the strongest predictors of use were exposure to the intervention (odds ratio [OR] = 5.5; 95% confidence interval [CI] = 2.8, 10.7), intention to use the female condom in the future (OR = 4.5; 95% CI = 2.4, 8.5), having asked a partner to use a condom in the past 30 days (OR = 2.3; 95% CI = 1.3, 3.9), and confidence in asking a partner to use a condom (OR = 1.9; 95% CI = 1.1, 3.5). CONCLUSIONS: Clinicians counseling women in the use of the female condom need to provide information, demonstrate its correct use with their clients, and provide an opportunity for their clients to practice skills themselves.

La mujer es mucho más que un útero / Women are much more than a uterus

El útero es el gran protagonista de la historia del ser mujer no sólo en la concepción de la ciencia médica, sino en el discurso dominante de las teorías filosóficas, políticas y religiosas de las sociedades patriarcales. Cuando estamos a punto de ingresar al tercer milenio, la genitalidad de la mujer y su función reproductiva continúa siendo ejes de la definición de lo femenino