Sucla2 Knock-Out in Skeletal Muscle Yields Mouse Model of Mitochondrial Myopathy With Muscle Type-Specific Phenotypes.

Background: Pathogenic variants in subunits of succinyl-CoA synthetase (SCS) are associated with mitochondrial encephalomyopathy in humans. SCS catalyses the conversion of succinyl-CoA to succinate coupled with substrate-level phosphorylation of either ADP or GDP in the TCA cycle. This report presents a muscle-specific conditional knock-out (KO) mouse model of Sucla2, the ADP-specific beta subunit of SCS, generating a novel in vivo model of mitochondrial myopathy.

Loss of succinyl-CoA synthetase in mouse forebrain results in hypersuccinylation with perturbed neuronal transcription and metabolism.

Lysine succinylation is a subtype of protein acylation associated with metabolic regulation of succinyl-CoA in the tricarboxylic acid cycle. Deficiency of succinyl-CoA synthetase (SCS), the tricarboxylic acid cycle enzyme catalyzing the interconversion of succinyl-CoA to succinate, results in mitochondrial encephalomyopathy in humans. This report presents a conditional forebrain-specific knockout (KO) mouse model of Sucla2, the gene encoding the ATP-specific beta isoform of SCS, resulting in postnatal deficiency of the entire SCS complex.

Characterization of a novel deep-intronic variant in identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III.

Biallelic pathogenic variants in are the cause of short-rib thoracic dysplasia type III with or without polydactyly (OMIM #613091), a skeletal ciliopathy characterized by thoracic hypoplasia due to short ribs. In this report, we review the case of a patient who was admitted to the Neonatal Intensive Care Unit (NICU) of Indiana University Health (IUH) for respiratory support after experiencing respiratory distress secondary to a small, narrow chest causing restrictive lung disease. Additional phenotypic features include postaxial polydactyly, short proximal long bones, and ambiguous genitalia were noted.

Anticipatory care planning for community-dwelling older adults at risk of functional decline: a feasibility cluster randomized controlled trial.

Objectives: To determine the feasibility, implementation and outcomes of an Anticipatory Care Planning (ACP) intervention in primary care to assist older adults at risk of functional decline by developing a personalized support plan.

Design: Feasibility cluster randomized control trial.

Setting And Participants: Eight primary care practices (four in Northern Ireland, United Kingdom and four in the Republic of Ireland) were randomly assigned to either intervention or control arm.

Untargeted Metabolomics of Slc13a5 Deficiency Reveal Critical Liver-Brain Axis for Lipid Homeostasis.

Though biallelic variants in are known to cause severe encephalopathy, the mechanism of this disease is poorly understood. SLC13A5 protein deficiency reduces citrate transport into the cell. Downstream abnormalities in fatty acid synthesis and energy generation have been described, though biochemical signs of these perturbations are inconsistent across SLC13A5 deficiency patients.

Estimating and examining the costs of inpatient diabetes care in an Irish Public Hospital.

Aim: To estimate and examine hospitalisation costs of Type 1 and Type 2 diabetes in an Irish public hospital.

Methods: A retrospective audit of hospital inpatient admissions over a 5-year period was undertaken, and a wide range of admission-related data were collected for a sample of 7,548 admissions. Hospitalisations were costed using the diagnosis-related group methodology.

Successful implementation of a trans-jurisdictional, primary care, anticipatory care planning intervention for older adults at risk of functional decline: interviews with key health professionals.

Background: Aging populations present a challenge to health systems internationally, due to the increasing complexity of care for older adults living with functional decline. This study aimed to elicit expert views of key health professionals on effective and sustainable implementation of a nurse-led, person-centred anticipatory care planning (ACP) intervention for older adults at risk of functional decline in a primary care setting.

Methods: We examined the feasibility of an ACP intervention in a trans-jurisdictional feasibility cluster randomized controlled trial consisting of home visits by research nurses who assessed participants' health, discussed their health goals and devised an anticipatory care plan following consultation with participants' GPs and adjunct clinical pharmacist.

Anticipatory care planning intervention for older adults at risk of functional decline: study protocol for a primary care cluster feasibility randomised trial.

Background: The treatment and management of long-term health conditions is the greatest challenge facing health systems around the world today. Innovative approaches to patient care in the community such as Anticipatory Care Planning (ACP), which seek to help with the provision of high-quality comprehensive care to older adults at risk of functional decline, require evaluation. This study will evaluate one approach that will include primary care as the setting for ACP.

Use of the PET ligand florbetapir for in vivo imaging of pancreatic islet amyloid deposits in hIAPP transgenic mice.

Aims/hypothesis: Islet amyloid deposits contribute to beta cell dysfunction and death in most individuals with type 2 diabetes but non-invasive methods to determine the presence of these pathological protein aggregates are currently not available. Therefore, we examined whether florbetapir, a radiopharmaceutical agent used for detection of amyloid-β deposits in the brain, also allows identification of islet amyloid in the pancreas.

Methods: Saturation binding assays were used to determine the affinity of florbetapir for human islet amyloid polypeptide (hIAPP) aggregates in vitro.

MLH1-rheMac hereditary nonpolyposis colorectal cancer syndrome in rhesus macaques.

Over the past two decades, 33 cases of colonic adenocarcinomas have been diagnosed in rhesus macaques () at the nonhuman primate colony of the Keeling Center for Comparative Medicine and Research at The University of Texas MD Anderson Cancer Center. The distinctive feature in these cases, based on PET/computed tomography (CT) imaging, was the presence of two or three tumor lesions in different locations, including proximal to the ileocecal juncture, proximal to the hepatic flexure, and/or in the sigmoid colon. These colon carcinoma lesions selectively accumulated [F]fluorodeoxyglucose ([F]FDG) and [F]fluoroacetate ([F]FACE) at high levels, reflecting elevated carbohydrate and fatty acid metabolism in these tumors.

Kirschner Wire Breakage during Removal Requiring Retrieval.

Kirschner wires (K-wires) are widely used for fixation of fractures and dislocations in the hand as they are readily available, reliable, and cost-effective. Complication rates of up to 18% have been reported. However, K-wire breakage during removal is rare.

Bilateral closed flexor pollicis longus musculotendinous junction ruptures.

We present a case of bilateral closed flexor pollicis longus musculotendinous junction ruptures. Our case suggests multifactorial aetiology and provides further evidence for genetic influences in musculotendinous junction injuries.

Reconstruction of complex orbital exenteration defects: a single center's experience with a five-year follow-up.

Background: Orbital exenteration presents a challenge to the reconstructive surgeon. Defects may be treated with split skin grafts, local advancement flaps, or free flap coverage. There are few published series showing the long-term outcomes of reconstruction.

Improvised External Fixation-a Modification.

A modification is presented to a commonly used type of improvised external fixator for hand fractures. Our modified fixator is easy to apply and allows fracture manipulation in three dimensions after application, before the cement sets.

Skin graft meshing, over-meshing and cross-meshing.

Introduction: Split skin grafts (SSGs) are often meshed to increase their size and allow exudate to escape. We investigated the expansion obtained with meshing, and the possibility of re-meshing skin that has already been meshed ("overmeshing"). Both useful and inadvisable permutations are illustrated.

Epitendinous suture techniques in extensor tendon repairs--an experimental evaluation.

Purpose: The tension-band principle might be relevant to extensor tendon repairs, and a dorsal-only Silfverskiöld epitendinous repair is stronger and stiffer than more conventional techniques in vitro. We aimed to evaluate the strength and stiffness of the strongest epitendinous sutures described, using an in vitro model that subjects the repair to angular force over a pulley, thereby creating a tension-band model.

Methods: Silfverskiöld dorsal-only epitendinous extensor tendon repairs in porcine foot tendons (n = 8) were compared to reverse (buried) Silfverskiöld (n = 8), Halsted (n = 8), and interrupted horizontal mattress (IHM) repairs (n = 6) in vitro with a tensiometer around a 45° pulley.

Inflammatory posterior interosseous nerve palsy in a patient with psoriatic arthropathy.

Psoriasis is a chronic, relapsing, inflammatory skin disorder with a strong genetic basis. Five patterns of psoriatic arthritis have been identified: asymmetrical oligoarticular arthritis, symmetrical polyarthritis, distal interphalangeal arthropathy, arthritis mutilans and spondylitis with or without sacroiliitis. Extra-articular disease is uncommon.

The prevalence of multimorbidity in primary care and its effect on health care utilization and cost.

Introduction: Multimorbidity is common among the heterogeneous primary care population, but little data exist on its association with health care utilization or cost.

Objective: The aim of this observational study was to examine the prevalence and associated health care utilization and cost of patients with multimorbidity.

Methods: All patients >50 years of age were eligible for the study which took place in three primary care practices in the West of Ireland.

Scarring occurs at a critical depth of skin injury: precise measurement in a graduated dermal scratch in human volunteers.

Background: The association between scarring and the depth of dermal injury or burn is clinically recognized but not quantified. The authors tested the hypothesis that there is a critical depth beyond which a fibrous scar develops.

Methods: A novel jig produced a wound that was deep dermal at one end and superficial dermal at the other.

Topical radiant heating in wound healing: an experimental study in a donor site wound model*.

The importance of temperature in the wound-healing process is rapidly being recognised as a novel way in which to manipulate the wound-healing environment. In this study, we aimed to investigate the direct effect of topical radiant heating (TRH), using a novel bandaging system (Warm-Up, Arizant Health care Inc., Eden Prairie MN, USA; Augustine Medical, USA), on wound healing at a physiological and cellular level.