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1.
Nature ; 577(7790): 364-369, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31816624

RESUMO

Mountains are the water towers of the world, supplying a substantial part of both natural and anthropogenic water demands1,2. They are highly sensitive and prone to climate change3,4, yet their importance and vulnerability have not been quantified at the global scale. Here we present a global water tower index (WTI), which ranks all water towers in terms of their water-supplying role and the downstream dependence of ecosystems and society. For each water tower, we assess its vulnerability related to water stress, governance, hydropolitical tension and future climatic and socio-economic changes. We conclude that the most important (highest WTI) water towers are also among the most vulnerable, and that climatic and socio-economic changes will affect them profoundly. This could negatively impact 1.9 billion people living in (0.3 billion) or directly downstream of (1.6 billion) mountainous areas. Immediate action is required to safeguard the future of the world's most important and vulnerable water towers.


Assuntos
Abastecimento de Água , Altitude , Conservação dos Recursos Naturais , Humanos , Fatores Socioeconômicos , Água
2.
Eur J Pediatr ; 183(1): 503-507, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37889290

RESUMO

This study describes 5 mediastinitis cases secondary to invasive group A Streptococcus (iGAS) disease in a recent outbreak in Spain. Among 398 iGAS cases between January 2019-March 2023, 5 (1.3%) were mediastinitis, 4 occurring in December 2022, all secondary to pneumonia or deep neck infection. We outline the clinical outcome with a review of the scarce pediatric literature.  Conclusion: mediastinistis is a rare but severe complication of iGAS and a high level of suspicion is required to diagnose it. What is Known: • Group A Streptococcus can cause invasive and severe infections in children. • Mediastinitis is a severe complication from some bacterial infections, mainly secondary due to deep-neck abscesses. What is New: • Mediastinitis is an unrecognized complication due to an invasive group A Streptococcus (iGAS) infection. • In cases of a deep-neck abscess or complicated pneumonia a high clinical suspicion of iGAS mediastinitis is required, especially when the clinical course is not favorable.


Assuntos
Mediastinite , Pneumonia , Infecções Estreptocócicas , Humanos , Criança , Mediastinite/etiologia , Mediastinite/complicações , Espanha/epidemiologia , Abscesso/etiologia , Abscesso/microbiologia , Streptococcus pyogenes , Infecções Estreptocócicas/complicações , Infecções Estreptocócicas/diagnóstico , Infecções Estreptocócicas/epidemiologia
3.
Exp Parasitol ; 260: 108725, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38458554

RESUMO

Duddingtonia flagrans is a nematophagous fungus which has shown promising results as a non-chemical parasitic control tool. The fungus disrupts the parasite's life cycle by trapping larvae in the environment through the networks generated from chlamydospores, thus preventing the reinfection of animals. One barrier to the development of a commercial product using this tool is the need to increase chlamydospore production in the laboratory for its administration to livestock. The purpose of this study was to evaluate the addition of mannitol to an enriched culture medium and the effect of adverse cultivation conditions on chlamydospore production. D. flagrans was cultivated on Petri dishes with corn agar for 4 weeks at 27 °C and 70% relative humidity (RH). Four groups were then formed, all with Sabouraud agar as a base, to which different growth inducers were added: GSA (glucose Sabouraud agar), GSA-MI (glucose Sabouraud agar + meso inositol), GSA-E (enriched glucose Sabouraud agar), and AE-M (enriched agar + mannitol). After 4 weeks, chlamydospores were recovered by washing the surface of each plate with distilled water and then quantified. The medium that yielded the highest amount of chlamydospores was subjected to different cultivation conditions: NC (normal conditions): 70% RH and 27 °C, AC (adverse conditions) 1: 20% RH and 40 °C, CA2: 60% RH and 27 °C, and CA3: 55% RH and 24 °C. It was determined that mannitol increases chlamydospore production (65x106 chlamydospores/plate), and when reducing humidity by 10% under cultivation conditions it resulted in an approximately 10% increase in chlamydospore production compared to the control group. These results suggest that the addition of polyols, as well as its cultivation under certain environmental conditions, can improve chlamydospore production on a laboratory scale.


Assuntos
Ágar , Meios de Cultura , Duddingtonia , Manitol , Esporos Fúngicos , Manitol/farmacologia , Meios de Cultura/química , Esporos Fúngicos/crescimento & desenvolvimento , Duddingtonia/crescimento & desenvolvimento , Duddingtonia/fisiologia , Glucose/metabolismo , Animais , Inositol/farmacologia , Umidade , Temperatura , Agentes de Controle Biológico/farmacologia
4.
Public Health ; 230: 12-20, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38479163

RESUMO

OBJECTIVE: This article aims to estimate the differences in environmental impact (greenhouse gas [GHG] emissions, land use, energy used, acidification and potential eutrophication) after one year of promoting a Mediterranean diet (MD). METHODS: Baseline and 1-year follow-up data from 5800 participants in the PREDIMED-Plus study were used. Each participant's food intake was estimated using validated semi-quantitative food frequency questionnaires, and the adherence to MD using the Dietary Score. The influence of diet on environmental impact was assessed through the EAT-Lancet Commission tables. The influence of diet on environmental impact was assessed through the EAT-Lancet Commission tables. The association between MD adherence and its environmental impact was calculated using adjusted multivariate linear regression models. RESULTS: After one year of intervention, the kcal/day consumed was significantly reduced (-125,1 kcal/day), adherence to a MD pattern was improved (+0,9) and the environmental impact due to the diet was significantly reduced (GHG: -361 g/CO2-eq; Acidification:-11,5 g SO2-eq; Eutrophication:-4,7 g PO4-eq; Energy use:-842,7 kJ; and Land use:-2,2 m2). Higher adherence to MD (high vs. low) was significantly associated with lower environmental impact both at baseline and one year follow-up. Meat products had the greatest environmental impact in all the factors analysed, both at baseline and at one-year follow-up, in spite of the reduction observed in their consumption. CONCLUSIONS: A program promoting a MD, after one year of intervention, significantly reduced the environmental impact in all the factors analysed. Meat products had the greatest environmental impact in all the dimensions analysed.


Assuntos
Dieta Mediterrânea , Gases de Efeito Estufa , Humanos , Dieta , Meio Ambiente , Coleta de Dados
5.
Artigo em Inglês | MEDLINE | ID: mdl-36811840

RESUMO

BACKGROUND: Amoxicillin-clavulanic acid (AX-CL) is the most consumed betalactam antibiotic worldwide. We aimed to establish the different phenotypes of betalactam allergy in those referring a reaction with AX-CL and to investigate the differences between immediate and non-immediate onset. METHODS: Cross-sectional retrospective study performed at Hospital Clínico San Carlos (HCSC) and Hospital Regional Universitario de Málaga (HRUM) in Spain. Patients reporting reactions with AX-CL who completed the allergy workup between 2017 and 2019 were included. Data of reported reaction and allergy workup were collected. Reactions were classified as immediate and non-immediate with 1hour cut-off point. RESULTS: We included 372 patients (HCSC 208, HRUM 164). There were 90 (24.2%) immediate, 252 (67.7%) non-immediate reactions, and 30 (8.1%) with unknown latency. Allergy to betalactams was ruled-out in 266 (71.5%) and confirmed in 106 patients (28.5%). The final main diagnosis in the overall population were allergy to aminopenicillins (7.3%), to CL (7%), to penicillin (6.5%) and to betalactams (5.9%). Allergy was confirmed in 77.2% and 14.3% of immediate and non-immediate reactions respectively, with a relative risk of 5.06 (95%CI 3.64-7.02) of an allergy diagnosis in those reporting immediate reactions. Only 2/54 patients with late-positive intradermal test (IDT) to CL were diagnosed of CL allergy. CONCLUSION: Allergy diagnosis was confirmed in a minority of the whole study population, but 5 times more frequently in those reporting immediate reactions, making this classification useful in risk stratification. Late-positive IDT for CL has no diagnostic value and its late reading could be retrieved from the diagnosis work-up.

6.
Encephale ; 49(3): 254-260, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35012897

RESUMO

OBJECTIVES: Several studies have shown that in young children, behavioural and/or emotional disorders are more difficult to manage than regulatory disorders. Moreover, data are lacking on outcome predictive factors. This article presents a short synthesis of previous research about outcome predictive factors in child psychiatry. It also describes the protocol of a longitudinal observational European multicentre study the main objective of which was to identify predictive factors of behavioural and emotional disorder outcome in toddlers after parent-child psychotherapy. The secondary objectives were to study predictive factors of the outcome in parents (anxiety/depression symptoms) and parent-child relationship. METHOD: In order to highlight medium-effect size, 255 toddlers (age: 18 to 48 months) needed to be included. Outcomes will be assessed by comparing the pre- and post-therapy scores of a battery of questionnaires that assess the child's symptoms, the parents' anxiety/depression, and the parent-child relationship. Multivariate linear regression analysis will be used to identify predictive factors of the outcome among the studied variables (child age and sex, socio-economic status, life events, disorder type, intensity and duration, social support, parents' psychopathology, parents' attachment, parent-child relationships, therapy length and frequency, father's involvement in the therapy, and therapeutic alliance). EXPECTED RESULTS AND CONCLUSION: This study should allow identifying some of the factors that contribute to the outcome of externalizing and internalizing disorders, and distinguishing between pre-existing and treatment-related variables. It should also help to identify children at higher risk of poor outcome who require special vigilance on the part of the therapist. It should confirm the importance of therapeutic alliance. TRIAL REGISTRATION: ID-RCB 2008-A01088-47.


Assuntos
Transtornos Mentais , Pré-Escolar , Humanos , Lactente , Transtornos Mentais/epidemiologia , Transtornos Mentais/terapia , Estudos Multicêntricos como Assunto , Relações Pais-Filho , Pais/psicologia , Estudos Prospectivos , Psicoterapia
7.
Opt Express ; 30(4): 4978-4987, 2022 Feb 14.
Artigo em Inglês | MEDLINE | ID: mdl-35209469

RESUMO

Due to the high intensity and MHz repetition rate of photon pulses generated by the European X-ray Free-Electron Laser, the heat load on silicon crystal monochromators can become large and prevent ideal transmission in Bragg diffraction geometry due to crystal deformation. Here, we present experimental data illustrating how heat load affects the performance of a cryogenically cooled monochromator under such conditions. The measurements are in good agreement with a depth-uniform model of X-ray dynamical diffraction taking beam absorption and heat deformation of the crystals into account.

8.
Clin Exp Dermatol ; 47(4): 700-708, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34762763

RESUMO

BACKGROUND: Calciphylaxis is a life-threatening cutaneous ulcerative/necrotic disease characterized by vascular calcification/occlusion. It occurs most commonly in end-stage kidney disease (ESKD), known as uraemic calciphylaxis (UC) but can also occur in patients with chronic kidney disease (CKD) and normal kidney function (nonuraemic calciphylaxis; NUC). There are few large series of NUC in the literature. AIM: To compare the clinicopathological features of UC and NUC. METHODS: We retrospectively compared the clinicopathological features of 35 patients with NUC during the period 2010-2020 with those of 53 patients with UC (control group). Cases were classified as NUC in the absence of all of the following: ESKD, significant CKD (defined as serum creatinine > 3 mg/dL or creatinine clearance < 15 mL/min) and acute kidney injury requiring kidney replacement therapy or kidney transplantation. RESULTS: NUC represented 40% of the total cases, and there was a higher number of women (P < 0.01) and a higher median body mass index (P = 0.06) compared with the control UC group. Elevated parathyroid hormone was present in 44% of patients with NUC. Most of the tested patients were positive for lupus anticoagulants (56%). NUC biopsies showed a higher rate of extravascular calcium deposits (73% vs. 47%, P = 0.03). Dermal reactive vascular proliferation was the most common dermal change (32%). CONCLUSIONS: NUC is more common than previously reported and shows a higher predilection for obese postmenopausal women. Undiagnosed hyperparathyroidism shows a possible association with NUC. Lupus anticoagulants were positive in most patients. NUC biopsies are more likely than UC biopsies to display extravascular calcium deposition.


Assuntos
Calciofilaxia , Falência Renal Crônica , Insuficiência Renal Crônica , Calciofilaxia/diagnóstico , Feminino , Humanos , Falência Renal Crônica/complicações , Falência Renal Crônica/terapia , Insuficiência Renal Crônica/complicações , Estudos Retrospectivos , Fatores de Risco
9.
J Eur Acad Dermatol Venereol ; 36(10): 1774-1783, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35460287

RESUMO

BACKGROUND: Limited data are available on long-term efficacy and safety of biologics in patients with psoriasis and metabolic syndrome (MetS), a common comorbidity. OBJECTIVES: This analysis updates tildrakizumab efficacy and safety for up to 5 years in patients with and without MetS. METHODS: This was a post hoc analysis of the double-blind, randomized, placebo-controlled, phase 3 reSURFACE 1 (NCT01722331) and reSURFACE 2 (NCT01729754) trials in adult patients with moderate to severe chronic plaque psoriasis. Analyses included data through Week 244 from patients who continuously received tildrakizumab 100 (TIL100) or 200 mg (TIL200) and entered the extension studies, stratified by baseline MetS status. Efficacy was assessed via Psoriasis Area and Severity Index (PASI) scores. Safety was evaluated from exposure-adjusted incidence rates (EAIRs) of treatment-emergent adverse events (TEAEs). RESULTS: reSURFACE 1 and reSURFACE 2 analyses included 26 and 44 TIL100-treated patients with MetS, 98 and 167 TIL100-treated patients without MetS, 34 and 30 TIL200-treated patients with MetS, and 111 and 130 TIL200-treated patients without MetS, respectively. There were no clinically relevant differences in PASI 75/90/100 response rates at Week 244 between patients with vs without MetS. The proportion of patients with vs without MetS achieving absolute PASI score <3 at Week 244 was 53.8% vs 69.4% and 77.3% vs 80.8% in reSURFACE 1 and 2, respectively, for TIL100-treated patients and 58.8% vs 72.1% and 63.3% vs 72.3%, respectively, for TIL200-treated patients. In both studies, median reduction from baseline PASI score at all time points in patients with vs without MetS was >83% vs >89% for TIL100 and >85% vs >90% for TIL200. Pooled EAIRs of TEAEs, serious TEAEs, and TEAEs of special interest were similar in patients with and without MetS. CONCLUSIONS: Tildrakizumab maintains efficacy and a favorable safety profile over 5 years in patients with psoriasis regardless of MetS status.


Assuntos
Anticorpos Monoclonais Humanizados , Síndrome Metabólica , Psoríase , Adulto , Anticorpos Monoclonais Humanizados/efeitos adversos , Método Duplo-Cego , Humanos , Síndrome Metabólica/complicações , Síndrome Metabólica/tratamento farmacológico , Psoríase/complicações , Psoríase/tratamento farmacológico , Resultado do Tratamento
10.
Rev Epidemiol Sante Publique ; 70(3): 103-108, 2022 Jun.
Artigo em Francês | MEDLINE | ID: mdl-35562295

RESUMO

INTRODUCTION: General practitioners are the first prescribers of speech therapy in France, a country in which speech therapists can practice only on medical prescription. The objective of this study was to measure general practioner's knowledge on means of prescribing speech therapy. METHOD: Cross-sectional study by self-questionnaires for general practitioners and residents in general practice in France. The test assessed five types of knowledge conducive to correct prescription of speech therapy: requirements for prescription, indications, prescription wording, ages of treatment eligibility, and reimbursement. The questionnaires were tested on an expert population, whose median score was used as a cut-off to separate doctors who knew the modalities of speech therapy prescription from those whose knowledge was insufficient. The characteristics differentiating the two groups were compared by multiple logistic regression. RESULTS: Five hundred and three general practitioners and five hundred and two residents in general medicine were included; 82.3% of the physicians having written a thesis and 86.2% of the residents had insufficient knowledge of the modalities of speech therapy prescription. Age, number of years since acquisition of a medical diploma and urban practice all had a negative impact on general practitioners' knowledge of speech therapy. CONCLUSION: French general practitioners' knowledge of speech therapy prescription seems insufficient. It is consequently necessary to improve the initial and continuing training of doctors. Collaborative work between general practitioners and speech therapists should be carried on, developed and strengthened.


Assuntos
Medicina Geral , Clínicos Gerais , Estudos Transversais , Humanos , Padrões de Prática Médica , Fonoterapia , Inquéritos e Questionários
11.
Bull Environ Contam Toxicol ; 109(3): 436-442, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35871684

RESUMO

We evaluated feathers as a non-destructive biomonitoring tool documenting organochlorine pesticides (OCP) in liver and checked possible trends in pesticide use in two areas based on OCP concentrations in barn owls (Tyto alba). We measured the concentrations of 16 OCP in 15 primary feathers and 15 livers from barn owl carcasses collected on roadsides in Tagus Valley and Évora regions, south Portugal. Total OCP mean concentration was 8 120 ng g-1 in feathers and 178 ng g-1 in livers. All compounds were detected in feathers while in livers δ-HCH, endosulfan sulphate, p,p'-DDT and p,p'-DDD were not detected. The high ß-HCH and heptachlor concentrations in feathers most likely derived from external endogenous contamination. P,p'-DDE was the OCP with the highest hepatic concentration. Both matrices indicated an exposure to recently released heptachlor. The differing OCP concentrations between Tagus Valley and Évora seem to reflect differences in land-use and pesticide use histories of the two locations, and/or faster degradation of OCP in the Tagus area.


Assuntos
Hidrocarbonetos Clorados , Praguicidas , Estrigiformes , Animais , DDT , Diclorodifenil Dicloroetileno , Monitoramento Ambiental , Plumas/química , Heptacloro , Hidrocarbonetos Clorados/análise , Fígado/metabolismo , Praguicidas/análise , Portugal , Estrigiformes/metabolismo
12.
Aust Crit Care ; 35(3): 302-308, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-34419341

RESUMO

BACKGROUND: Acute respiratory failure (ARF) has become one of the most prevalent serious pathologies encountered in the emergency medical service (EMS). In hospital settings, noninvasive ventilation (NIV) therapy prevents complications from more aggressive treatments for that condition. However, the scarce evidence on the benefits of NIV in prehospital EMS (i.e., during transport to the hospital) is inconclusive. OBJECTIVES: To determine whether the administration of NIV during prehospital EMS in cases of ARF reduces in-hospital mortality compared with starting NIV on arrival to in-patient EMS. METHODS: This is a multicentre, observational, prospective cohort study. We recruited a total of 317 patients from the Madrid region (Spain) who were prescribed NIV for their ARF using a nonprobabilistic consecutive sampling method. Analyses of the main outcome (in-hospital mortality) and secondary outcomes (length of hospital stay, readmissions, percentage of intensive care unit admissions, and cost-effectiveness) will include descriptive analyses of patients' characteristics, as well as bivariate and multivariate analyses and cost-effectiveness analysis. DISCUSSION: This study will provide data on NIV management in prehospital and in-patient EMS in patients with ARF. Results will contribute to the existing evidence on the benefits of NIV in the context of prehospital EMS while underlining the importance of a standardized formal training for physicians and nurses working in prehospital and in-patient EMSs. CONCLUSION: The VentilaMadrid study will provide valuable data on the clinical factors of patients receiving NIV in prehospital EMS. Further, were our hypothesis to be confirmed, our results would strongly suggest that the administration of NIV in prehospital EMS by medical and nursing profesionals formally trained in the technique reduces mortality and improves prognoses.


Assuntos
Serviços Médicos de Emergência , Ventilação não Invasiva , Síndrome do Desconforto Respiratório , Estudos de Coortes , Serviços Médicos de Emergência/métodos , Humanos , Estudos Multicêntricos como Assunto , Ventilação não Invasiva/métodos , Estudos Observacionais como Assunto , Estudos Prospectivos , Espanha
13.
Foot Ankle Surg ; 28(1): 134-137, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33674194

RESUMO

Sport injuries of the first metatarsophalangeal joint are well described, especially with traumatic hallux valgus and turf toe reports. However, there is no description of infraclinical medial laxity and following articular disorders. We report the case of a thirty-year-old runner who suffered a sprain initially treated with retentive dressing and local injection. He developed microinstability of the first ray and quickly a bone cyst, pushing us to suggest surgical treatment. After one year of follow up after surgery, he returned to previous high-performance sport. This case highlights the probable undervaluation of post traumatic stability of the first metatarsophalangeal joint, and its potential consequences for the return to sport. LEVEL OF CLINICAL EVIDENCE: Level 4.


Assuntos
Traumatismos do Pé , Hallux Valgus , Hallux , Instabilidade Articular , Articulação Metatarsofalângica , Adulto , Humanos , Instabilidade Articular/etiologia , Instabilidade Articular/cirurgia , Masculino , Articulação Metatarsofalângica/diagnóstico por imagem , Articulação Metatarsofalângica/cirurgia
14.
Actas Dermosifiliogr ; 113(4): 354-362, 2022 Apr.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-35623725

RESUMO

BACKGROUND AND OBJECTIVE: Accurate information on the incidence of melanoma by stage and a better understanding of transition between stages are important for determining the burden of disease and assessing the impact of new adjuvant therapies on recurrence and survival. The aim of this study was to estimate the incidence rates of the various stages of melanoma in Spain and to estimate the number of patients with stage III disease who are eligible for adjuvant systemic therapies. MATERIALS AND METHOD: We built an epidemiological model using prospectively collected data from patients diagnosed with de novo or recurrent melanoma between 2012 and 2016 in the melanoma units of 4 public hospitals. RESULTS: The estimated crude incidence rates for stage I and II melanoma were 7 and 2.9 cases per 100,000 person-years, respectively. The corresponding rates for stage III and IV melanoma were 1.9 and 1.3 cases per 100,000 person-years; 25.8% of patients with stage III melanoma were stage IIIA, 47% were stage IIIB, and 27.3% were stage IIIC. The respective estimated incidence rates for recurrent stage III and IV melanoma were 1.1 and 0.9 cases per 100,000 person-years. Overall, 54% of patients with recurrent stage III melanoma had progressed from stage I or II; the other cases corresponded to changes in substage. Of the patients with stage III melanoma, 85% of those with a de novo diagnosis and 80% of those who had relapsed had resectable disease, meaning they were eligible for adjuvant therapy; 47% of these patients had a BRAF mutation. CONCLUSIONS: The above estimates could have a major impact on health care resource planning. Assessing the number of patients with melanoma who are eligible for adjuvant therapies in melanoma could help decision-makers and clinicians anticipate future needs for the management of this disease.


Assuntos
Melanoma , Neoplasias Cutâneas , Adjuvantes Imunológicos , Terapia Combinada , Humanos , Melanoma/diagnóstico , Melanoma/epidemiologia , Melanoma/terapia , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/terapia , Espanha/epidemiologia , Melanoma Maligno Cutâneo
15.
Hum Genet ; 140(12): 1665-1678, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34448047

RESUMO

Syndromic retinal diseases (SRDs) are a group of complex inherited systemic disorders, with challenging molecular underpinnings and clinical management. Our main goal is to improve clinical and molecular SRDs diagnosis, by applying a structured phenotypic ontology and next-generation sequencing (NGS)-based pipelines. A prospective and retrospective cohort study was performed on 100 probands with an a priori diagnosis of non-Usher SRDs, using available clinical data, including Human Phenotype Ontology annotation, and further classification into seven clinical categories (ciliopathies, specific syndromes and five others). Retrospective molecular diagnosis was assessed using different molecular and bioinformatic methods depending on availability. Subsequently, uncharacterized probands were prospectively screened using other NGS approaches to extend the number of analyzed genes. After phenotypic classification, ciliopathies were the most common SRD (35%). A global characterization rate of 52% was obtained, with six cases incompletely characterized for a gene that partially explained the phenotype. An improved characterization rate was achieved addressing prospective cases (83%) and well-recognizable syndrome (62%) subgroups. The 27% of the fully characterized cases were reclassified into a different clinical category after identification of the disease-causing gene. Clinical-exome sequencing is the most appropriate first-tier approach for prospective cases, whereas whole-exome sequencing and bioinformatic reanalysis increases the diagnosis of uncharacterized retrospective cases to 45%, mostly those with unspecific symptoms. Our study describes a comprehensive approach to SRDs in daily clinical practice and the importance of thorough clinical assessment and selection of the most appropriate molecular test to be used to solve these complex cases and elucidate novel associations.


Assuntos
Oftalmopatias Hereditárias/diagnóstico , Ontologia Genética , Sequenciamento de Nucleotídeos em Larga Escala , Doenças Retinianas/diagnóstico , Ciliopatias/genética , Estudos de Coortes , Oftalmopatias Hereditárias/genética , Feminino , Estudos de Associação Genética , Testes Genéticos , Humanos , Masculino , Técnicas de Diagnóstico Molecular , Mutação , Fenótipo , Estudos Prospectivos , Doenças Retinianas/genética , Estudos Retrospectivos , Síndrome
16.
Br J Surg ; 108(5): 574-582, 2021 05 27.
Artigo em Inglês | MEDLINE | ID: mdl-34043778

RESUMO

BACKGROUND: Attempts to improve limb preservation for transplantation using ex vivo perfusion have yielded promising results. However, metabolic acidosis, aberrant perfusate biochemistry and significant perfusion-induced oedema are reported universally. Optimizing perfusion protocols is therefore essential for maintaining tissue health. METHODS: A randomized, two-stage open preclinical trial design was used to determine the optimal temperature and mean arterial pressure for machine perfusion. Conditions compared were: normothermic machine perfusion at 70 mmHg (NMP-70); subnormothermic perfusion (28°C) at 70 mmHg; subnormothermic (28°C) perfusion at 50 mmHg; and hypothermic perfusion (10°C) at 30 mmHg. Following this, a head-to-head experiment was undertaken comparing the optimal machine perfusion with static cold storage. Paired bilateral limbs (10 in total) were randomized to either 8 h of static cold storage, or 2 h of static cold storage and 6 h of optimal machine perfusion. Both groups of limbs were then reperfused on a circuit primed with matched blood from unrelated donors for 4 h without immunosuppression. RESULTS: NMP-70 resulted in less tissue injury and stable perfusion biochemistry. Assessing reperfusion outcomes, static cold storage resulted in acidosis with increased lactate and a worsening electrolyte profile, necessitating bolus infusions of bicarbonate to prevent graft loss. Conversely, NMP-70 was associated with haemodynamic and biochemical stability. Histologically, on reperfusion with allogeneic whole blood, limbs subjected to static cold storage exhibited multifocal ischaemic injury and increased inflammation, which was absent with NMP-70. Static cold storage also resulted in significant oedema compared with NMP-70. CONCLUSION: Normothermic perfusion resulted in superior graft preservation and less reperfusion injury compared with the current static cold storage protocol.


Assuntos
Aloenxertos Compostos , Perfusão/métodos , Temperatura , Animais , Pressão Sanguínea , Sobrevivência de Enxerto , Modelos Animais , Distribuição Aleatória , Traumatismo por Reperfusão/prevenção & controle , Manejo de Espécimes , Suínos
17.
Diabet Med ; 38(5): e14377, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-32750175

RESUMO

AIMS: Disparities persist on the prevalence of undiagnosed type 2 diabetes in racial/ethnic minorities in the USA. This study evaluated the association between BMI and incident type 2 diabetes risk by racial/ethnic group, to determine whether BMI and presence of type 2 diabetes risk factors may help clinicians better target type 2 diabetes screening. METHODS: This prospective cohort analysis included 5659 adults free of type 2 diabetes at baseline from the Multi-Ethnic Study of Atherosclerosis (MESA), a population-based cohort (2000-2011). BMI was measured at baseline and time-updated at subsequent visits. Incident type 2 diabetes was defined as fasting glucose ≥ 7.0 mmol/l, or use of any diabetes medications. RESULTS: The mean (sd) age was 62 (10) years and 42% of participants were white, 26% African American, 20% Hispanic and 12% Chinese American. During follow-up, 696 (12%) new type 2 diabetes cases were observed. In age- and sex-adjusted models, in the presence of one or more type 2 diabetes risk factors (the most common scenario), a 10% risk of incident type 2 diabetes was observed at a BMI of 21.7 kg/m2 [95% confidence interval (CI) 20.1 to 22.8] in Chinese Americans, 23.8 kg/m2 (22.7 to 24.9) in Hispanics, 24.7 kg/m2 (23.7 to 25.6) in African Americans and 26.2 kg/m2 (25.1 to 26.9) in white participants. CONCLUSIONS: This study supports including BMI and presence of type 2 diabetes risk factors as action points for clinicians to prioritize which adults aged ≥ 45 years should be screened. The application of race/ethnicity-specific BMI thresholds may reduce the disparity of undiagnosed type 2 diabetes observed in minority groups.


Assuntos
Índice de Massa Corporal , Diabetes Mellitus Tipo 2/epidemiologia , Minorias Étnicas e Raciais/estatística & dados numéricos , Adulto , Idoso , Idoso de 80 Anos ou mais , Aterosclerose/epidemiologia , Aterosclerose/etnologia , Estudos de Coortes , Diabetes Mellitus Tipo 2/etnologia , Etnicidade/estatística & dados numéricos , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Prevalência , Determinantes Sociais da Saúde/etnologia , Estados Unidos/epidemiologia
18.
Eur J Neurol ; 28(1): 358-360, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32997868

RESUMO

COVID-19 can occasionally be associated with cranial nerve involvement, but facial palsy, particularly if bilateral, is exceptional. We here report a patient who presented with severe bilateral facial palsy and evidence of SARS-CoV-2 infection preceded by upper respiratory symptoms. He also had serological evidence of coinfection with Epstein-Barr virus, which could have also played a role in his neurological manifestations. PCR in the cerebrospinal fluid was negative for both EBV and SARS-CoV-2, which suggests an indirect, immune-mediated mechanism rather than direct, viral-induced damage. The patient was treated with prednisone 60 mg/24h with a tapering schedule and had a favorable outcome, with an almost complete recovery in 3 weeks. SARS-CoV-2 adds to the list of infectious agents causative of bilateral facial palsy. Coinfection with SARS-CoV-2 is not rare and should be considered in the differential diagnosis.


Assuntos
COVID-19/complicações , Infecções por Vírus Epstein-Barr/complicações , Paralisia Facial/etiologia , Anti-Inflamatórios/uso terapêutico , Paralisia Facial/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Masculino , Prednisona/uso terapêutico , Recuperação de Função Fisiológica , Infecções Respiratórias/etiologia , Infecções Respiratórias/fisiopatologia , Resultado do Tratamento , Adulto Jovem
19.
J Endocrinol Invest ; 44(7): 1457-1464, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33043415

RESUMO

PURPOSE: To identify presurgical and surgical factors associated with the development of diabetes insipidus (DI) after pituitary adenoma (PA) resection through an endoscopic endonasal transsphenoidal approach. METHODS: Data from 231 patients with functioning and non-functioning PAs who underwent an endoscopic endonasal transsphenoidal approach in the last ten years. RESULTS: 231 patients with 241 pituitary surgeries were included. Eighty-five percent harbored macroadenomas and 38.1% of them were invasive. After pituitary surgery, 12.5% (n = 30) developed transient DI and 5.0% (n = 12) permanent DI. The global risk of DI was higher in patients younger than 65 years (OR = 2.94, p = 0.029), with total tumoral resection (OR = 2.86, p = 0.007) and with diaphragm opening during pituitary resection (OR = 3.63, p = 0.0003). Once postoperative DI developed, the risk of permanent DI increased in those patients with larger PA (OR = 1.07 for each mm of craniocaudal diameter, p = 0.020), especially in those greater than 30 mm (OR = 8.33, p = 0.004). Moreover, diaphragm opening during pituitary resection (OR = 28.3, p = 0.018) predicted long-term DI independently of pituitary tumor size. The risk of permanent DI increased as PA craniocaudal diameter increased (r = 0.20, p = 0.002). CONCLUSION: In patients with PAs younger than 65 years, in whom diaphragm has been opened during pituitary surgery and/or with a total tumor resection, special hydric balance monitoring should be maintained in the postoperative period due to the increased risk of developing DI. The risk of permanent DI increases as PA craniocaudal diameter increased.


Assuntos
Adenoma/cirurgia , Diabetes Insípido/patologia , Endoscopia/efeitos adversos , Procedimentos Neurocirúrgicos/efeitos adversos , Neoplasias Hipofisárias/cirurgia , Complicações Pós-Operatórias/patologia , Osso Esfenoide/cirurgia , Adenoma/patologia , Diabetes Insípido/etiologia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Hipofisárias/patologia , Complicações Pós-Operatórias/etiologia , Prognóstico , Estudos Retrospectivos
20.
Can J Psychiatry ; 66(12): 1042-1050, 2021 12.
Artigo em Francês | MEDLINE | ID: mdl-33563032

RESUMO

INTRODUCTION: Childhood-Onset Schizophrenia (COS) is a rare (1/40000), severe and neurodevelopmental form of schizophrenia beginning before 13 years of age. Little is known about comorbidities and specific COS-related disorders. Thus, the objective of our study was to evaluate them from a psychiatric, neurodevelopmental and somatic perspective. METHOD: This is an ancillary study of the GenAuDiss protocol. A standardized psychiatric interview (K-SADS-PL DSM5) and a neuropsychological assessment (WISC-V/WAIS-IV) were carried out in outpatients with COS as well as a medical history collection concerning pregnancy, perinatal period, development, biography and medical and psychiatric, personal, and family history. RESULTS: 20 outpatients were included. The mean age of onset of COS was 8.90 years (+/- 2.30). Psychiatric comorbidities (DSM5) were Attention Deficit Hyperactivity Disorder (15/20 patients), Anxiety Disorders (14/20) and Autism Spectrum Disorder (13/20). The average IQ was 70.26 (+/- 18.09). A language delay and a break in school career were noted in 18/20 patients. Finally, the main associated somatic disorder was asthma (15/20 patients). DISCUSSION: We highlighted in our patients with COS a high frequency of comorbidities including at least one systematic psychiatric disorder. However, although COS is a severe condition impacting the patient, his family and society, its management remains essentially symptomatic. In clinical practice, it is necessary to look for all these comorbidities and to manage them in order to improve the overall quality of care.


INTRODUCTION: La schizophrénie très précoce (STP) est une forme rare (1/40000), grave et neurodéveloppementale de schizophrénie débutant avant 13 ans. Les comorbidités et atteintes associées spécifiques des STP étant peu étudiées, l'objectif de notre étude a été de les évaluer sur le plan psychiatrique, neurodéveloppemental et somatique. MÉTHODE: Il s'agit d'une étude ancillaire du protocole GenAuDiss. Un entretien psychiatrique standardisé (K-SADS-PL DSM5) et un bilan neuropsychologique (WISC-V/WAIS-IV) ont été effectués chez les patients atteints de STP ainsi qu'une anamnèse concernant la grossesse, la périnatalité, le développement, la biographie et les antécédents médicaux et psychiatriques, personnels et familiaux. RÉSULTATS: 20 sujets ont été inclus. L'âge moyen de début du trouble était de 8,90 ans (+/−2,30). Les comorbidités psychiatriques (DSM5) étaient le Trouble Déficitaire de l'Attention avec Hyperactivité (15/20 patients), les troubles anxieux (14/20) et le Trouble du Spectre de l'Autisme (13/20). Le QI moyen était de 70,26 (+/−18,09). Un retard de langage et une rupture de parcours scolaire étaient notés chez 18/20 patients. Enfin, l'affection somatique principale associée était l'asthme (15/20 patients). DISCUSSION: Nous avons mis en évidence chez nos patients atteints de STP une fréquence élevée de comorbidités dont au moins un trouble psychiatrique systématique. Or, bien que la schizophrénie infantile soit une pathologie de pronostic sévère impactant le patient, sa famille et la société, sa prise en charge demeure essentiellement symptomatique. En pratique clinique, il apparaît nécessaire de rechercher systématiquement ces comorbidités et de les prendre en charge pour améliorer la qualité globale des soins.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Espectro Autista , Transtorno Autístico , Transtornos do Neurodesenvolvimento , Esquizofrenia Infantil , Esquizofrenia , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Espectro Autista/epidemiologia , Criança , Comorbidade , Feminino , Humanos , Transtornos do Neurodesenvolvimento/epidemiologia , Gravidez , Esquizofrenia/epidemiologia , Esquizofrenia Infantil/epidemiologia
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