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The US Secretary of Health and Human Services recommended in February 2016 that mucopolysaccharidosis type 1 (MPS I) be added to the recommended uniform screening panel for state newborn screening programs. One of the key factors in this decision was the evidence suggesting that earlier treatment with hematopoietic cell transplantation (HCT) for the most severe form, Hurler syndrome (MPS IH), would lead to improved cognitive outcomes. Consistent evidence from peer-reviewed studies suggests that transplantation in the first year of life is associated with improved developmental quotient or intelligence quotient and continued cognitive growth, with earlier age of treatment associated with improved outcomes. However, available evidence suggests that cognitive functioning and attention can still lag behind unaffected age-matched children, leading to the need for special education services. Verbal and nonverbal cognitive abilities outcomes may be affected differently by HCT. With the recent addition of MPS I to the recommended uniform screening panel, future work is needed to evaluate the impact of earlier, presymptomatic detection and treatment initiation and other supportive therapies on cognitive outcomes.Genet Med advance online publication 26 January 2017.

The secretary of the US Department of Health and Human Services in February 2016 recommended that X-linked adrenoleukodystrophy (X-ALD) be added to the recommended uniform screening panel for state newborn screening programs. This decision was informed by data presented on the accuracy of screening from New York, the only state that currently offers X-ALD newborn screening, and published and unpublished data showing health benefits of earlier treatment (hematopoietic stem cell transplantation and adrenal hormone replacement therapy) for the childhood cerebral form of X-ALD. X-ALD newborn screening also identifies individuals with later-onset disease, but poor genotype-phenotype correlation makes predicting health outcomes difficult and might increase the risk of unnecessary treatment. Few data are available regarding the harms of screening and presymptomatic identification. Significant challenges exist for implementing comprehensive X-ALD newborn screening, including incorporation of the test, coordinating follow-up diagnostic and treatment care, and coordination of extended family testing after case identification.Genet Med 19 1, 121-126.

Sericothrips staphylinus was introduced to New Zealand as a biological control agent for gorse, Ulex europaeus (Fabales: Fabaceae), an invasive weed of European origin, but has proven to be an ineffective agent. We investigated and compared the functional responses of a predatory mite found on gorse in New Zealand, Amblyseius herbicolus, with two well-known mite predators of thrips: Amblydromalus limonicus, and Neoseiulus cucumeris when fed on varying densities (2, 4, 8, 16, and 24/491 mm2) of S. staphylinus first instar larvae. We also compared the functional response of A. herbicolus on S. staphylinus with previously published data for mite predators of thrips. Amblyseius herbicolus, A. limonicus, and N. cucumeris all exhibited a type II functional response. A. herbicolus generally exhibited higher capture rates and lower handling times than those reported for other predatory mites that are effective biocontrol agents of pest thrips on crops, except for A. limonicus. These results indicate that the presence of A. herbicolus on gorse in New Zealand is a likely explanation for the failure of S. staphylinus as a weed biocontrol agent.

The US Secretary of Health and Human Services provides guidance to state newborn screening programs about which conditions should be included in screening (i.e., the “Recommended Uniform Screening Panel”). This guidance is informed by evidence-based recommendations from the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. This report describes the Advisory Committee’s revised decision-making process for considering conditions nominated to the panel. An expert panel meeting was held in April 2012 to revise the decision matrix, which helps to guide the recommendation process. In January 2013, the Advisory Committee voted to adopt the revised decision matrix. The revised decision matrix clarifies the approach to rating magnitude and certainty of the net benefit of screening to the population of screened newborns for nominated conditions, and now includes the consideration of the capability of state newborn screening programs for population-wide implementation by evaluating the feasibility and readiness of states to adopt screening for nominated conditions. The revised decision matrix will bring increased quality, transparency, and consistency to the process of modifying the recommended uniform screening panel and will now allow formal evaluation of the challenges that state newborn screening programs face in adopting screening for new conditions. Genet Med 16 2, 183–187.

Introduction and aims Shear wave elastography (SWE) is an emerging ultrasound-related technology for assessment of liver fibrosis. The usefulness and reliability of SWE is unclear relative to other markers of liver fibrosis. We compared the clinical usefulness of SWE relative to transient elastography (TE), liver ultrasound and other standard biochemical markers of chronic liver disease in patients with varied liver disorders. Methods SWE assessment was performed using a Toshiba Aplio 500 or Canon Aplio i800 machine, concurrently with liver ultrasound on 421 adult patients. Amongst these patients 227 also had liver transient elastography (TE). Patient age, gender, body mass index (BMI), alcohol history, liver disease diagnosis, and laboratory results were recorded. Associations between SWE, TE and patient factors were sought. Suspected significant liver fibrosis was defined by liver stiffness measurement interpretation of ≥ F2 equivalent using Metavir staging. Results Patients were predominantly male (67.5%). Males and females were matched as regards age and BMI. The indications for SWE included nonalcoholic fatty liver disease (10%), chronic hepatitis B (22%), chronic hepatitis C (38%), alcohol-related liver disease (18%) and others (12%). 23%The mean (standard deviation) age was 53 (14) years, body mass index 27.7 (6.3) kg/m2, ultrasound-measured skin to liver capsule distance 20.0 (7.3)mm, serum ALT 39(27) U/L and AST 48(32) U/L. The median (IQR) liver stiffness was 9.9 (6.4-20.0) kPa with SWE and 9.2 (5.8-20.9) kPa with TE. Patients with suspected significant liver fibrosis determined by SWE, compared with patients not suspected of having significant fibrosis, were significantly older, had higher BMI, skin to liver capsule distance, TE liver stiffness measurement, alcohol consumption, and blood based assessments AST (but not ALT), AST/ALT ratio, AST to platelet ratio index (APRI), Fibrosis-4 index (FIB-4), Hepascore and NAFLD fibrosis score (NFS), but lower platelet count and serum albumin (p Conclusions SWE was found to be a useful test for suspected liver fibrosis in various liver disorders, and results were found to correlate with TE liver stiffness measurement plus clinically relevant anthropometric and laboratory parameters.

Gay (N = 52) and lesbian (N = 48) alcohol use disorder (AUD) patients and their nonsubstance-abusing same-sex relationship partners were randomly assigned to equally intensive interventions consisting of: (a) behavioral couples therapy plus individual-based treatment (BCT); or (b) individual-based treatment only (IBT). This study reports two separate trials, one with gay male participants and one with lesbian female participants. For both gay and lesbian AUD patients, those who received BCT had a significantly lower percentage of days of heavy drinking during the year after treatment than patients who received IBT only. In addition, both gay and lesbian couples who received BCT reported higher levels of relationship adjustment at the end of treatment and in the year after treatment than those who received IBT only. Thus, the response of gay and lesbian couples with an alcoholic member to BCT was consistent with what has been observed with heterosexual couples.

Objective: This study examined factors that influenced caregiver status for African–American mothers who use crack cocaine but are not receiving drug treatment and participated in an HIV prevention study in North Carolina. Method: Caregiver mothers who were living with at least one of their children at intake ( n = 257) were compared with non-Caregivers who were separated from all of their children ( n = 378). Bivariate analyses and logistic regression were used to compare these mothers at intake on current drug use, risky sex practices, psychological symptoms, victimization, and aggression. Results: Compared with Caregiver mothers, non-Caregivers reported higher frequencies of drug use, risky sex practices, psychological distress, and victimization experiences. Caregiver mothers were more likely than non-Caregiver mothers to have health insurance, but were less likely to have received drug treatment. Logistic regression found that non-Caregiver mothers were significantly more likely than Caregiver mothers to be older, to have been physically abused as children, to trade sex more frequently, to be homeless, and to have no health insurance. Recent crack use, psychological symptoms, and victimization were not significantly related to caregiver status. Conclusions: Findings that socio-environmental factors were more strongly associated with caregiver status than crack use underscore the importance of contextual issues such as housing, victimization history, and resources in serving maternal crack users. Community outreach and interventions that engage mothers who use drugs and live with their children may be more effective strategies than formal office-based services to link mothers who use crack and their children to needed drug treatment and family and child services.