Digital Measures of Postural Sway Quantify Balance Deficits in Spinocerebellar Ataxia.

Background: Maintaining balance is crucial for independence and quality of life. Loss of balance is a hallmark of spinocerebellar ataxia (SCA).

Objective: The aim of this study was to identify which standing balance conditions and digital measures of body sway were most discriminative, reliable, and valid for quantifying balance in SCA.

Engraftment and Measurable Residual Disease Monitoring after Hematopoietic Stem Cell Transplantation: Comparison of Two Chimerism Test Strategies, Next-Generation Sequencing versus a Combination of Short-Tandem Repeats and Quantitative PCR.

Chimerism testing supports the study of engraftment and measurable residual disease (MRD) in patients after allogeneic hematopoietic stem cell transplant. In chimerism MRD, relapse can be predicted by increasing mixed chimerism (IMC), recipient increase ≥0.1% in peripheral blood, and proliferating recipient cells as a surrogate of tumor activity.

Machine-Learning Classification of Bacteria Using Two-Dimensional Tandem Mass Spectrometry.

Biothreat detection has continued to gain attention. Samples suspected to fall into any of the CDC's biothreat categories require identification by processes that require specialized expertise and facilities. Recent developments in analytical instrumentation and machine learning algorithms offer rapid and accurate classification of Gram-positive and Gram-negative bacterial species.

Placental syndromes and maternal cardiovascular health.

The placental syndromes gestational hypertension, preeclampsia and intrauterine growth restriction are associated with an increased cardiovascular risk to the mother later in life. In this review, we argue that a woman's pre-conception cardiovascular health drives both the development of placental syndromes and long-term cardiovascular risk but acknowledge that placental syndromes can also contribute to future cardiovascular risk independent of pre-conception health. We describe how preclinical studies in models of preeclampsia inform our understanding of the links with later cardiovascular disease, and how current pre-pregnancy studies may explain relative contributions of both pre-conception factors and the occurrence of placental syndromes to long-term cardiovascular disease.

Experiences and perceptions of everyday decision-making in the lives of adults with intellectual disabilities, their care partners and direct care support workers.

Decisional support is important to people with intellectual disabilities. This review explores: i) how everyday decision-making is perceived and/or experienced by adults with intellectual disability, their care partners and direct care support workers (DCSWs); ii) techniques/approaches used to support everyday decision-making; and iii) barriers/facilitators encountered. PRISMA systematic review methodology using PsycInfo, PubMED, Web of Science, CINAHL and Scopus.

Cultural Influences on the Creation and Use of Psychiatric Advance Directives.

Little published research exists on how culture influences mental health service users when they create or use psychiatric advance directives (PADs). This column reports the results of a study (N=38 participants) of cultural factors that might encourage New Zealand Māori who engage in mental health services to make greater use of PADs in their care. The most important factor identified was the inclusion of family and friends in decision making during PAD creation and use.

HLA-C*07:985:01:02Q, a novel allele with an acceptor splice site mutation.

HLA-C*07:985:01:02Q differs from HLA-C*07:985:01 by one nucleotide substitution at the Intron 1 splicing acceptor site.

Impact of preeclampsia on cardiovascular events: An analysis of the Generation Scotland: Scottish family health study.

Preeclampsia is a recognised cause of an increased risk of major adverse cardiovascular events when compared to the background risk in women who did not have hypertensive disorders during pregnancy. The Generation Scotland: Scottish Family Health Study (GS:SFHS) is a population cohort of more than 20,000 members of the Scottish population. Using the Scottish Morbidity Records, we linked the women in the GS:SFHS cohort to validated maternity and inpatient admission data.

Spherulitic Lead Calcium Apatite Minerals in Lead Water Pipes Exposed to Phosphate-Dosed Tap Water.

Phosphate dosing is the principle strategy used in the United Kingdom to reduce the concentration of lead in tap waters supplied by lead water pipes. The mechanisms of phosphate-mediated lead control are not fully understood, but solid solutions of lead calcium apatite are thought to play an important role. This study investigated the microstructure of a lead pipe, supplied with high-alkalinity tap water, in which the lead calcium apatite crystals were spherulitic having rounded and dumb-bell-shaped morphologies.

Use of advance directives to promote supported decision-making in mental health care: Implications of international trends for reform in New Zealand.

Advance directives are advocated, in many jurisdictions, as a way to promote supported decision-making for people who use mental health services and to promote countries' compliance with their obligations under the United Nations Convention on the Rights of Persons with Disabilities. The United Nations Convention on the Rights of Persons with Disabilities promotes the use of tools to further personal autonomy which would include integrating the use of advance directives into mental health law, to clarify the effect (or force) an advance directive carries when its maker comes under the relevant mental health legislation. In addition, securing the active use of advance directives requires adoption of certain supportive practices and policies within health services.

Gait Variability in Spinocerebellar Ataxia Assessed Using Wearable Inertial Sensors.

Background: Quantitative assessment of severity of ataxia-specific gait impairments from wearable technology could provide sensitive performance outcome measures with high face validity to power clinical trials.

Objectives: The aim of this study was to identify a set of gait measures from body-worn inertial sensors that best discriminate between people with prodromal or manifest spinocerebellar ataxia (SCA) and age-matched, healthy control subjects (HC) and determine how these measures relate to disease severity.

Methods: One hundred and sixty-three people with SCA (subtypes 1, 2, 3, and 6), 42 people with prodromal SCA, and 96 HC wore 6 inertial sensors while performing a natural pace, 2-minute walk.

HLA-DQA1*03:03:01:16Q, a novel allele with an acceptor splice site mutation.

DQA1*03:03:01:16Q differs from DQA1*03:03:01:01 by one nucleotide at the Intron 3 splicing acceptor site.

Sex steroids receptors, hypertension, and vascular ageing.

Sex hormone receptors are expressed throughout the vasculature and play an important role in the modulation of blood pressure in health and disease. The functions of these receptors may be important in the understanding of sexual dimorphism observed in the pathophysiology of both hypertension and vascular ageing. The interconnectivity of these factors can be exemplified in postmenopausal females, who with age and estrogen deprivation, surpass males with regard to hypertension prevalence, despite experiencing significantly less disease burden in their estrogen replete youth.

Help and Hindrances to Completion of Psychiatric Advance Directives.

Psychiatric advance directives (PADs) allow service users to participate in their own mental health care in the event that they have a future mental health crisis and are deemed incompetent to make decisions, but few patients complete these documents. This Open Forum reports on factors that have helped or hindered completion of PADs in New Zealand. Perceived barriers to completion include resource limitations, procedural issues, access and storage problems, and mistrust between clinicians and service users regarding implementation.

A novel null allele, HLA-DPA1*01:35N in a European American Male from Pennsylvania, USA.

A non-sense mutation in either DPA1*01:03:01:02 or DPA1*01:03:01:05/01:03:01:15 results in the novel allele, HLA-DPA1*01:35N.

Unexpected Short-Tandem-Repeat Patterns in Posttransplant Chimerism Testing: Investigation of 3 Cases with Help from Forensic Science.

Chimerism testing by short tandem repeats (STRs) is used to monitor engraftment after allogeneic hematopoietic stem cell transplantation (HSCT). Generally, STR alleles are stable and transferred from parent to child or from donor to recipient. However, 3 cases did not follow this norm.

The content of Mental Health Advance Preference statements (MAPs): An assessment of completed advance directives in one New Zealand health board.

Background: Mental health advance directives support service users' autonomy and provide a voice in their care choices when they may not have capacity to give informed consent. New Zealand's Southern District Health Board has recently introduced advanced directives in mental health services.

Method: Completed advance directives (n = 53) and additional demographic data were accessed from clinical records.

Service user, whānau and peer support workers' perceptions of advance directives for mental health.

Advance directives allow users of mental health services to make statements for their future care. In New Zealand, use of advance directives is supported by the Health and Disability Commissioner and was identified in the 2012 Blueprint as a key mechanism for service users to advocate for responses they find most helpful. This study used a qualitative descriptive methodology involving focus groups to explore the perceptions of service users, whānau and peer support workers concerning advance directives.