Qualitative needs assessment for paediatric emergency care in Kampala, Uganda.

INTRODUCTION: Acute childhood illnesses, such as malaria, pneumonia, and diarrhoea, represent the leading causes of under-five mortality in Uganda. Given that most early child deaths are treatable with timely interventions, emergency units dedicated to paediatric populations have been established in the country. In light of recent developments, the department of paediatrics at Makerere University requested a needs assessment in the paediatric acute care unit (PACU) at Mulago National Referral Hospital, which could guide the development of a new training curriculum for medical providers. METHODS: We administered a survey for medical providers working in the PACU at Mulago Hospital, which assessed their self-rated comfort levels with paediatric assessment, treatment, and teamwork skills. We also conducted focus groups with a smaller subset of medical providers to understand barriers and facilitators to paediatric emergency and critical care. RESULTS: Of 35 paediatric assessment, treatment, and teamwork skills, 29 (83%) questions had the median comfort rating of 6 or 7 on a 7-point Likert scale. The remaining 6 (17%) skills had a median comfort rating of 5 or lower. Focus groups identified a number of major barriers to caring for critically ill children, including limited resources and staffing, training gaps, and challenges with interprofessional teamwork. In terms of training development, focus group participants suggested continuous training for all medical providers working in the PACU led by local leaders. DISCUSSION: This study identified the need and desirability of continuous trainings in the PACU. Key components include objective skills assessment, simulation-based scenarios, and interprofessional teamwork. Training development should be augmented by increases in resources, staffing, and training opportunities in collaboration with the Uganda Ministry of Health.

Dipeptidase-1 Is an Adhesion Receptor for Neutrophil Recruitment in Lungs and Liver.

A hallmark feature of inflammation is the orchestrated recruitment of neutrophils from the bloodstream into inflamed tissue. Although selectins and integrins mediate recruitment in many tissues, they have a minimal role in the lungs and liver. Exploiting an unbiased in vivo functional screen, we identified a lung and liver homing peptide that functionally abrogates neutrophil recruitment to these organs. Using biochemical, genetic, and confocal intravital imaging approaches, we identified dipeptidase-1 (DPEP1) as the target and established its role as a physical adhesion receptor for neutrophil sequestration independent of its enzymatic activity. Importantly, genetic ablation or functional peptide blocking of DPEP1 significantly reduced neutrophil recruitment to the lungs and liver and provided improved survival in models of endotoxemia. Our data establish DPEP1 as a major adhesion receptor on the lung and liver endothelium and identify a therapeutic target for neutrophil-driven inflammatory diseases of the lungs.

Obsessive-compulsive behavior disappearing after left capsular genu infarction.

This case report describes a 74-year-old woman with obsessive-compulsive behaviors that disappeared following a left capsular genu infarction. The patient's capsular genu infarction likely resulted in thalamocortical disconnection in the cortico-basal ganglia-thalamocortical loop, which may have caused the disappearance of her obsessive-compulsive symptoms. The fact that anterior capsulotomy has been demonstrated to be effective for treating refractory obsessive-compulsive disorder further supports this hypothesis.

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia linked to VCP p.Arg155Cys in a Korean family.

BACKGROUND: Missense mutations in the valosin-containing protein (VCP) gene on chromosome 9p13.3-p12 cause inclusion body myopathy with Paget disease of bone and frontotemporal dementia (hereafter referred to as IBMPFD; OMIM 167320). OBJECTIVE: To describe detailed clinical, electrophysiological, biochemical, and neuroimaging findings in IBMPFD linked to VCP p.Arg155Cys in a Korean family. DESIGN: Case series. Clinical, electrophysiological, biochemical, and neuroimaging findings were obtained by direct evaluation and from previous medical records. SETTING: Tertiary referral hospital. PARTICIPANTS: Three affected family members in a Korean family. RESULTS: The clinical features of myopathy, Paget disease of bone, and semantic dementia (a clinical subtype of frontotemporal dementia) in our patients were similar to those of previously reported cases. However, the brain magnetic resonance imaging features in our patients, including asymmetric anterior and lateral temporal and inferior parietal atrophy with ventricular dilatation on the affected side, differed from those of previously published features in patients with IBMPFD and in patients with typical semantic dementia who show anterior temporal and frontal atrophy. CONCLUSION: To our knowledge, this report provides the first documented IBMPFD family in Asia and broadens the phenotypic spectrum of VCP mutation-associated frontotemporal dementia.

Familial Creutzfeldt-Jakob disease with V180I mutation.

Creutzfeldt-Jakob disease (CJD) is an uncommon neurodegenerative disorder with an incidence of 1 per 1000,000 per year typically characterized by rapidly progressive dementia, ataxia, myoclonus and behavioral changes. Genetic prion diseases, which develop due to a mutations in the prion protein gene (PRNP), account for an estimated 10 to 15% of all CJD cases. We report a 75-yr-old woman with familial CJD carrying a V180I mutation which features late onset, slow progression, no periodic sharp wave complexes on electroencephalography, and extensive cortical ribboning with spared the cerebellum and the medial occipital lobes posterior to the parieto-occipital sulcus on MRI. To our knowledge, this is the first documented case of a point mutation at codon 180 in South Korea.

Isolated monocular visual loss as an initial manifestation of polycythemia vera.

A 25-year-old man developed prolonged loss of vision in the left eye. Examination revealed that visual acuity was 20/20 in the right eye and 10/20 in the left eye, with a left relative afferent pupillary defect. Fundoscopy showed multiple cotton wool spots in the left whole retina with normal optic disc. Fluorescein angiography (FA) revealed markedly delayed arterial, venous and recirculation time in the left eye without retinal arterial or venous occlusion. Bone marrow aspirate confirmed polycythemia vera. After the patient underwent phlebotomy, his visual acuity markedly improved and cotton wool spots in the retina disappeared. On follow-up FA, delayed arterial and venous filling, and recirculation time also became normalized. This case suggests that ischemic damage of the retina due to the great viscosity of blood may be a possible mechanism of monocular visual loss in polycythemia vera. Clinicians should be aware that isolated monocular visual loss may be an initial manifestation of polycythemia vera, since if untreated, polycythemia vera carries a high risk of permanent complications due to intravascular thrombosis.

Identification of an anti-aldolase autoantibody as a diagnostic marker for diabetic retinopathy by immunoproteomic analysis.

Circulating autoantibodies specific for retinal proteins are associated with retinal destruction in patients with diabetic retinopathy (DR). In this study, we screened diabetic sera for the presence of anti-retinal autoantibodies with an aim of developing diagnostic markers for DR. Immunoblot analysis of DR patients' sera with human retinal cytosolic proteins revealed a higher incidence of anti-retinal autoantibodies, compared to normal blood donors or diabetic patients without DR. Anti-retinal protein autoantibody profiles of DR patient sera were obtained by 2-DE immunoblot analysis. Specifically, 20 protein spots reactive with DR patient sera were identified by ESI-MS/MS. Of these spots, 14 were specific for DR patients, and 4 reacted with both non-proliferative DR (non-PDR) and PDR sera. The anti-aldolase autoantibody was selected as a DR marker candidate, and specific reactivity of DR patient sera was confirmed by immunoblot analysis with rabbit aldolase. The serum anti-aldolase autoantibody level was measured by ELISA. DR patients showed significantly higher autoantibody levels than normal donors or diabetic patients without retinopathy. However, no significant differences were observed between non-PDR and PDR patients, suggesting that the level of anti-aldolase autoantibody is not determined by the severity of retinopathy in diabetic patients. Our data collectively demonstrate that the anti-aldolase autoantibody serves as a useful marker for DR diagnosis.