The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series.

Context: 17α-Hydroxylase/17,20-lyase deficiency (17OHD) caused by mutations in the CYP17A1 gene is a rare form of congenital adrenal hyperplasia typically characterised by cortisol deficiency, mineralocorticoid excess and sex steroid deficiency.

Objective: To examine the phenotypic spectrum of 17OHD by clinical and biochemical assessment and corresponding in silico and in vitro functional analysis.

Design: Case series.

Migratory earthquake precursors are dominant on an ice stream fault.

Simple fault models predict earthquake nucleation near the eventual hypocenter (self-nucleation). However, some earthquakes have migratory foreshocks and possibly slow slip that travel large distances toward the eventual mainshock hypocenter (migratory nucleation). Scarce observations of migratory nucleation may result from real differences between faults or merely observational limitations.

Slow slip source characterized by lithological and geometric heterogeneity.

Slow slip events (SSEs) accommodate a significant proportion of tectonic plate motion at subduction zones, yet little is known about the faults that actually host them. The shallow depth (<2 km) of well-documented SSEs at the Hikurangi subduction zone offshore New Zealand offers a unique opportunity to link geophysical imaging of the subduction zone with direct access to incoming material that represents the megathrust fault rocks hosting slow slip. Two recent International Ocean Discovery Program Expeditions sampled this incoming material before it is entrained immediately down-dip along the shallow plate interface.

Vital Signs: Status of Human Immunodeficiency Virus Testing, Viral Suppression, and HIV Preexposure Prophylaxis - United States, 2013-2018.

Background: Approximately 38,000 new human immunodeficiency virus (HIV) infections occur in the United States each year; these infections can be prevented. A proposed national initiative, Ending the HIV Epidemic: A Plan for America, incorporates three strategies (diagnose, treat, and prevent HIV infection) and seeks to leverage testing, treatment, and preexposure prophylaxis (PrEP) to reduce new HIV infections in the United States by at least 90% by 2030. Targets to reach this goal include that at least 95% of persons with HIV receive a diagnosis, 95% of persons with diagnosed HIV infection have a suppressed viral load, and 50% of those at increased risk for acquiring HIV are prescribed PrEP.

Vital Signs: Human Immunodeficiency Virus Testing and Diagnosis Delays - United States.

Background: Persons unaware of their human immunodeficiency virus (HIV) infection account for approximately 40% of ongoing transmissions in the United States. Persons are unaware of their infection because of delayed HIV diagnoses that represent substantial missed opportunities to improve health outcomes and prevent HIV transmission.

Methods: Data from CDC's National HIV Surveillance System were used to estimate, among persons with HIV infection diagnosed in 2015, the median interval (and range) from infection to diagnosis (diagnosis delay), based on the first CD4 test after HIV diagnosis and a CD4 depletion model indicating disease progression and, among persons living with HIV in 2015, the percentage with undiagnosed infection.

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease-associated variants (December 2016) for: WFS1 (n = 309), CISD2 (n = 3), ALMS1 (n = 268), and SLC19A2 (n = 48) for Wolfram type 1, Wolfram type 2, Alström, and Thiamine-responsive megaloblastic anemia syndromes, respectively; and included 23 previously unpublished novel germline variants in WFS1 and 17 variants in ALMS1. We then investigated genotype-phenotype relations for the WFS1 gene.

Vital Signs: Trends in HIV Diagnoses, Risk Behaviors, and Prevention Among Persons Who Inject Drugs - United States.

Background: Persons who inject drugs (PWID) are at increased risk for poor health outcomes and bloodborne infections, including human immunodeficiency virus (HIV), hepatitis C virus and hepatitis B virus infections. Although substantial progress has been made in reducing HIV infections among PWID, recent changes in drug use could challenge this success.

Methods: CDC used National HIV Surveillance System data to analyze trends in HIV diagnoses.

Low coseismic friction on the Tohoku-Oki fault determined from temperature measurements.

The frictional resistance on a fault during slip controls earthquake dynamics. Friction dissipates heat during an earthquake; therefore, the fault temperature after an earthquake provides insight into the level of friction. The Japan Trench Fast Drilling Project (Integrated Ocean Drilling Program Expedition 343 and 343T) installed a borehole temperature observatory 16 months after the March 2011 moment magnitude 9.

Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations.

Background: Activating mutations in the GLUD1 gene (which encodes for the intra-mitochondrial enzyme glutamate dehydrogenase, GDH) cause the hyperinsulinism-hyperammonaemia (HI/HA) syndrome. Patients present with HA and leucine-sensitive hypoglycaemia. GDH is regulated by another intra-mitochondrial enzyme sirtuin 4 (SIRT4).

Engaging black older adults and caregivers in urban communities in health research.

The under-representation of the Black population in research may lead to poor health outcomes for them and a decreased capacity to generalize results to Black populations. This article describes ways in which sensitivity to cultural distinctions of Black older adults and their current or future caregivers can enhance their recruitment and retention in research. Cultural mores play an important role in the shaping of one's perceptions, definitions, responses to disease, and participation in health regimens.

Changes in inpatient psychiatric utilization and quality of care performance measures in a capitated HMO population, 1989-1999.

Managed behavioral health care approaches have significantly reduced inpatient utilization and related cost of care, but the relationship between decreased utilization and cost of care to changes in quality of care performance over time remains in question. The trends in utilization and quality of care performance measures over the course of 10 years of the Tufts Health Plan Designated Facility Program, a model health maintenance organization capitated program for inpatient behavioral health care, are presented. The results indicate that substantial decreases in inpatient utilization were sustained while quality of care measures improved over time.

A program to help staff cope with psychological sequelae of assaults by patients.

Mental hospital staff who are assaulted by patients are at risk of developing symptoms associated with posttraumatic stress disorder. The Assaulted Staff Action Program (ASAP), a voluntary program, offers support to staff victims of patient assaults in a state mental hospital. ASAP team members debrief assault victims, assessing the victim's sense of control, social supports, and ability to make sense of the incident.

The effect of renal ischemia on cyclosporine clearance in rabbits.

The renal handling of cyclosporine was studied in ischemically damaged kidneys in New Zealand White rabbits and nonischemic control animals. CsA, 25 mg/kg/day, was administered intravenously for 10 days starting with the day of operation. Blood CsA (B CsA) was higher in the ischemic group compared with the controls (median: 285 micrograms/L, range 95-785 micrograms/L vs.

Colonic diverticulosis in patients with colorectal cancer and in controls.

The barium enemas of 119 patients with colorectal cancer and 119 age-matched controls were examined for evidence of diverticula. Amongst men, 39.6% of patients with colorectal cancer had diverticulosis, compared with 50% in the control group.