Genetic services survey-experience of people with rare diseases and their families accessing genetic services in the Irish Republic.

Irish Health Service objectives state that patients with rare diseases should have timely access to genomic diagnostics with appropriate pre and post-test counselling. However, waiting times for clinical genetics outpatient appointments, during the study period, were up to two years as staffing levels remain low. A targeted public online survey was conducted in January 2022 to capture the experiences of Rare Disease families trying to access genetic testing and clinical genetic clinics in the Irish Republic.

What are the information needs of people with dementia and their family caregivers when they are admitted to a mental health ward and do current ward patient information leaflets meet their needs?

Introduction: An admission to a mental health ward is an uncertain and unexpected part of a person's journey with dementia and consequently, families require information about what to expect and how to prepare. This study aimed to establish the information needs of people with dementia and their families at the point of admission to a mental health ward and to collate existing ward information leaflets to explore if they meet these information needs.

Methods: This research was conducted in two parts: (1) a qualitative study using focus groups, one with people with dementia and family carers with lived experience of such an admission (n = 6), and another with Admiral Nurses (n = 6) to explore information needs at the point of admission.

Designing rare disease care pathways in the Republic of Ireland: a co-operative model.

Background: Rare diseases (RDs) are often complex, serious, chronic and multi-systemic conditions, associated with physical, sensory and intellectual disability. Patients require follow-up management from multiple medical specialists and health and social care professionals involving a high level of integrated care, service coordination and specified care pathways.

Methods And Objectives: This pilot study aimed to explore the best approach for developing national RD care pathways in the Irish healthcare system in the context of a lack of agreed methodology.

Rare Disease Research Partnership (RAinDRoP): a collaborative approach to identify research priorities for rare diseases in Ireland.

Rare diseases are individually rare, but collectively these conditions are common. Research on rare diseases are currently focused on disease-specific needs rather than a life-course perspective. The Rare Disease Research Partnership (RAinDRoP) was established in 2018 to bring together a wide variety of diverse voices in the rare disease community in Ireland and form a research partnership.

Making tuba in the Torres Strait Islands: the cultural diffusion and geographic mobility of an alcoholic drink.

There is relatively scant evidence of the Indigenous production and consumption of intoxicating drinks on the Australian mainland prior to the arrival of outsiders. Although Australian Aboriginal peoples had mastered fermentation in some regions, the Indigenous manufacture of much stronger drinks by distillation was unknown on the Australian mainland. However, following contact with Pacific Island and Southeast Asian peoples in the 19th century, Islanders in the Torres Strait adopted techniques for fermenting and distilling what became a quasi-indigenous alcoholic drink known as tuba.

Effect of seed sludge and operation conditions on performance and archaeal community structure of low-temperature anaerobic solvent-degrading bioreactors.

Two laboratory-scale expanded granular sludge bed (EGSB) anaerobic bioreactors (R1 and R2) were inoculated with biomass from different mesophilic (37 degrees C) treatment plants, and used for the treatment of an organic solvent-based wastewater at 9-14 degrees C at applied organic loading rates (OLRs) of 1.2-3.6kg chemical oxygen demand (COD)m(-3)d(-1).

Striking association between urinary cadmium level and albuminuria among Torres Strait Islander people with diabetes.

Objectives: Indigenous people of the Torres Strait (Australia) have greater potential for cadmium exposure and renal damage than other Australians due to high cadmium in some traditional seafood and a high prevalence of Type 2 diabetes, hypertension, smoking, and obesity. This study explored associations between albuminuria and an index of cadmium exposure (urinary cadmium excretion) in the presence and absence of Type 2 diabetes.

Research Design And Methods: Two population-based, cross-sectional studies were undertaken in the Torres Strait to obtain data on body mass index (BMI), blood pressure, chronic disease, smoking, urinary cadmium, and albumin creatinine ratio (ACR).

Exploring potential dietary contributions including traditional seafood and other determinants of urinary cadmium levels among indigenous women of a Torres Strait Island (Australia).

Indigenous people of the Torres Strait Islands have been concerned about the safety of their traditional seafoods since the discovery of high cadmium levels in the liver and kidney of dugong and turtle in 1996. This study explored links between urinary cadmium levels and consumption frequency of these traditional foods and piloted a community-based methodology to identify potential determinants of cadmium exposure and accumulation. Consultations led to selection of one community for study from which 60 women aged 30 to 50 years participated in health and food frequency survey, urine collection and a routine health check.

A sensitive non-isotopic assay for acetylcholine receptor autoantibodies.

Background: Detection and measurement of serum acetylcholine receptor autoantibodies (AChRAb) are useful in the diagnosis and management of myasthenia gravis (MG). An immunoprecipitation assay (IPA) based on AChR labelled with 125I-alpha bungarotoxin is widely used for measurement of AChRAb, but a non-isotopic assay of sensitivity and specificity comparable to IPA is not available as yet.

Methods: A new AChRAb ELISA, which is based on the ability of AChRAb to compete with 3 different AChR monoclonal antibodies (MAbs 1-3) for binding sites on affinity purified fetal and adult-type AChR preparations, is described.

Isolation and characterisation of a human monoclonal autoantibody to the islet cell autoantigen IA-2.

A hybridoma secreting a human monoclonal autoantibody to the islet cell autoantigen IA-2 was prepared from peripheral lymphocytes of a patient with type 1 diabetes and Graves' disease using EBV infection followed by fusion with a mouse/human hybrid cell line. The monoclonal antibody (M13) is an IgG1/kappa and in an immunofluorescence test M13 at 1 microg/mL showed islet cell antibody reactivity equivalent to 40 JDF units. M13 IgG bound (35)S-labelled IA-2 (26% at 100 microg/mL) and (125)I-labelled IA-2 (34% at 100 microg/mL) in an immunoprecipitation assay and reacted well with IA-2 in western blotting analysis.

Muscle-specific receptor tyrosine kinase autoantibodies--a new immunoprecipitation assay.

Background: It has been reported that measurement of autoantibodies to a muscle-specific receptor tyrosine kinase (MuSK) may be useful in the assessment and management of patients with acetylcholine receptor antibody (AChRAb)-negative myasthenia gravis (MG).

Methods: A new and convenient assay for MuSKAb measurement based on 125I-labeled purified recombinant MuSK is described. In the assay, serum samples (5 microl) were incubated with 50 microl of 125I-MuSK and any immune complexes formed precipitated with antihuman IgG (50 microl).

Autoantibodies to human tryptophan hydroxylase and aromatic L-amino acid decarboxylase.

Objective: To assess the prevalence of autoantibodies (Abs) to tryptophan hydroxylase (TPH) and aromatic l-amino acid decarboxylase (AADC) in patients with different autoimmune diseases and to analyse their respective epitopes.

Design: TPH and AADC Abs were measured in an immunoprecipitation assay using (35)S-labelled full-length and fragments of TPH and AADC.

Methods: Patients with different autoimmune adrenal diseases (n=84), non-adrenal autoimmune diseases (n=37), idiopathic vitiligo (n=8) and 56 healthy blood donors were studied.

Evolution of the laparoscopic gastric bypass.

Obesity is recognized as a health problem of epidemic proportions. Surgical intervention for the treatment of obesity is a well-studied and effective method. Various procedures have been utilized over the past decades.

The importance of follow-up: why is it my responsibility?

Like poor communication, poor office management can create ill-will among patients and can actually contribute to negligence itself. It is imperative that every office have a system for tracking test results and referrals to ensure that patients do not "fall though the cracks". There are several types of effective tracking systems.

The interaction of TSH receptor autoantibodies with 125I-labelled TSH receptor.

Detergent-solubilized porcine TSH receptor (TSHR) has been labeled with 125I using a monoclonal antibody to the C-terminal domain of the receptor. The ability of sera containing TSHR autoantibody to immunoprecipitate the labeled receptor was then investigated. Sera negative for TSHR autoantibody (as judged by assays based on inhibition of labeled TSH binding to detergent-solubilized porcine TSHR) immunoprecipitated about 4% of the labeled receptor, whereas sera with high levels of receptor autoantibody immunoprecipitated more than 25% of the labeled receptor.

Rectal trauma: management based on anatomic distinctions.

Principles of rectal wound management, including routine diversion, injury repair, presacral drainage and distal washout, evolved from World War II and the Vietnam conflict and have been questioned in recent years. We believe significant confusion arises because of imprecise definition of injury location relative to retroperitoneal involvement. Our 5-year experience with penetrating rectal injuries at a Level I trauma center was analyzed.

Media-dependent oxidase reaction in a strain of Aeromonas hydrophila.

A strain of Aeromonas hydrophila isolated from bile was oxidase positive only when grown on nonselective media. The isolate was oxidase negative when grown on gram-negative selective and/or differential media. It is proposed that oxidase tests on gram-negative rods be performed on colonies grown on nonselective media to assure valid results.