HIV testing in a large community health center serving a multi-cultural patient population: A qualitative study of providers.

In the United States, 15% of HIV-positive individuals do not know their HIV serostatus. While CDC guidelines recommend HIV testing for individuals age 13-64 years, racial and ethnic minorities continue to experience delays in HIV diagnosis. We assessed providers' perspectives on HIV testing at an urban community health center serving racial/ethnic minority populations of low socioeconomic status. We conducted five focus groups from January 2017 to November 2017 with 74 health center staff: 20 adult medicine/primary care providers, 34 community health workers (CHWs) and community health administrators, six urgent care physicians, and fourteen behavioral health providers. Study staff analyzed transcripts using a grounded theory approach and used open coding to develop themes. We identified five themes affecting HIV testing: 1) provider perception of patients' preferences for HIV testing; 2) competing medical and social issues; 3) inter-professional communication; 4) knowledge of clinical indicators for HIV testing; and 5) knowledge of frequency of HIV testing. Primary care physicians desired mechanisms to easily identify patients for HIV testing and assistance with testing for non-English speakers. Training to improve comfort with HIV testing, integrating CHWs into routine practice, and focusing on patients' cultural beliefs may increase HIV testing in diverse community health centers..

Introduction to Human Genetic Epidemiology.

Human genetic epidemiology (HGP) is concerned with a knowledge of medicine, preventive medicine, public health, and epidemiology. In the modern era of genetic medicine, HGP must be concerned with human genetic diversity including mutation and polymorphism.

Diagnostic Hesitancy of Primary Care Physicians in Puerto Rico Toward Alzheimer's Disease and Related Dementias: Opportunities for Transformation.

OBJECTIVE: Migration of physicians in Puerto Rico makes it difficult to obtain specialized care for Alzheimer's disease and related dementias (ADRD). Primary care physicians (PCPs) can fill this gap, but there is limited information on how their beliefs and behaviors towards ADRD affect early diagnostic practices. Using the Theory of Planned Behavior (TPB), we addressed salient beliefs of PCPs that affect their intention to diagnose ADRD early, defined as "performing the recommended clinical testing to diagnose ADRD within 3 months from the patient's first subjective memory complaint". METHODS: This cross-sectional study included 103 Puerto Rican PCPs, surveyed at CME activities and online. We measured PCPs salient beliefs in terms of attitudes, pressure they feel from others, self-perception of ability to diagnose ADRD early, and intention to perform early diagnosis. Questionnaire measures were psychometrically acceptable. RESULTS: Structural equation modeling (PLS-SEM) analysis showed that, combined, framework constructs explained 35.7% of the variance, reflecting a moderate-to-strong intention of PCPs to diagnose early (R2 = 0.357, p < 0.001). Self-perception of skills was the strongest predictor of intention (ß= 0.378, p < 0.001). Hours in ADRD training and years of experience in medical practice were strongly correlated with the percentage of total diagnoses performed by PCPs. CONCLUSION: Training and years of experience may be key for PCPs to have a positive outlook of their skills for early ADRD diagnosis. Findings could be useful to design interventions to dispel myths about ADRD, reduce stigma, and reduce diagnostic hesitancy toward ADRD among PCPs.

The Use of Morning Urinary Gonadotropins and Sex Hormones in the Management of Early Puberty in Chinese Girls.

CONTEXT: Although gonadotropin-releasing hormone stimulation test (GnRHST) is the gold standard in diagnosing central precocious puberty (CPP), it is invasive, expensive, and time-consuming, requiring multiple blood samples to measure gonadotropin levels. OBJECTIVE: We evaluated whether urinary hormones could be potential biomarkers for prepuberty or postpuberty, aiming to simplify the current diagnosis and prognosis procedure. METHODS: We performed a cross-sectional study of a total of 355 girls with CPP in National Clinical Research Center for Child Health in China, including 258 girls with positive and 97 girls with negative results from GnRHST. Twenty patients received GnRH analogue (GnRHa) treatment and completed a 6-month follow up. We measured luteinizing hormone (LH), follicle-stimulating hormone (FSH), estradiol, prolactin, progesterone, testosterone, and human chorionic gonadotropin in the first morning voided urine samples. RESULTS: Their urinary LH levels and the ratios of LH to FSH increased significantly with the advancement in Tanner stages. uLH levels were positively associated with basal and peak LH levels in the serum after GnRH stimulation. A cutoff value of 1.74 IU/L for uLH reached a sensitivity of 69.4% and a specificity of 75.3% in predicting a positive GnRHST result. For the combined threshold (uLH ≥ 1.74 + uLH-to-uFSH ratio > 0.4), the specificity reached 86.6%. After 3 months of GnRHa therapy, the uLH and uFSH levels decreased accordingly. CONCLUSION: uLH could be a reliable biomarker for initial CPP diagnosis and screening; uLH could also be an effective marker for evaluating the efficacy of clinical treatment.

Trends and correlates of the sex distribution among U.S. assisted reproductive technology births.

OBJECTIVE: To assess national trends in the sex distribution of live-born infants in the assisted reproductive technology (ART) and general population and to identify factors correlated with offspring sex. DESIGN: Retrospective cohort study. SETTING: Fertility treatment centers. PATIENTS: All live-born infants included in the National Vital Statistics System and resulting from ART cycles reported to the National ART Surveillance System during 2006-14. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURE(S): Trends in the proportion of male infants in the general population and proportion of males from fresh ART cycles among all ART live-born infants and singletons after single ET. RESULT(S): There were 214,274 live-born infants resulting from fresh ART cycles; 53.5% (5,492/10,266) of infants resulting from PGD/PGS cycles were male, as compared with 50.6% (103,228/204,008) in the non-PGD/PGS group. Among non-PGD/PGS cycles, blastocyst transfer was positively associated with male infants (adjusted risk ratio [aRR] = 1.03; 95% confidence interval [CI], 1.02-1.04). Intracytoplasmic sperm injection was negatively associated with male infants (aRR = 0.94; 95% CI, 0.93-0.95) and for singletons after single ET (aRR = 0.93; 95% CI, 0.90-0.95), as was transfer of two embryos (aRR 0.98; 95% CI, 0.97-0.99) or three or more embryos (aRR = 0.98; 95% CI, 0.96-0.99) among all live births from cycles without PGD/PGS use. CONCLUSION(S): The proportion of male live-born infants among ART population did not change during 2006-14, ranging from 50.5% to 51.2%. Factors such as blastocyst transfer, intracytoplasmic sperm injection use, embryo stage, and number of embryos transferred may be associated with infant sex; further investigation is needed to understand possible underlying causes.

Non-invasive pre-implantation aneuploidy screening and diagnosis of beta thalassemia IVSII654 mutation using spent embryo culture medium.

BACKGROUND: Cell-free nuclear DNA has been isolated from spent embryo culture medium. Whether this small amount of DNA can be amplified at the whole genome level and the concordance rate of karyotypes and specific alleles between biopsied cells and media has not been evaluated. METHODS: Seven couples were recruited, 88 donated embryos and their corresponding media were collected for whole genome amplification (WGA). The efficiency of WGA, the concordance of chromosome status, and the HBB gene IVSII654 allele between biopsied cells and media were investigated. RESULTS: After WGA, the DNA detection rate was 90.90% with a mean concentration of 26.15 ng/µl. The full chromosome concordance rate between biopsied cells and medium was 64.52%, and it increased to 90.00% for diploid blastocyst samples. Analysis of the mutated IVSII654 locus and SNP linkage verified that the DNA present in the medium originated from embryonic cells. CONCLUSION: We confirmed that nuclear DNA is present in spent culture medium and that the majority of this DNA can be amplified for subsequent analysis. Our results showed that non-invasive embryo genetic testing at the chromosomal-level using medium can concordant to the biopsied cells, but it needs further optimized before use in clinical applications. KEY MESSAGES The aggressive biopsy step during PGD/PGS procedure would have a negative effect on the future development of the embryo. Cell-free nuclear DNA has been observed in spent embryo culture medium, which holds promise for the development of non-invasive PGD/PGS approaches. The presence of DNA in medium, its efficiency for WGA, and the concordance between chromosome status and the HBB gene IVSII654 allele as diagnosed from biopsied cells or medium were investigated. Non-invasive embryo genetic testing at the chromosomal-level and allele site using medium can concordant to the biopsied cells, but it needs further optimized before use in clinical applications.

Diagnosis and management of bipolar disorder in primary care: a DSM-5 update.

This review discusses the diagnosis and detection of bipolar disorder in the primary care population with recent changes introduced by Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition and the pharmacotherapy and psychosocial management of this psychiatric condition.