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1.
Arch Phys Med Rehabil ; 104(1): 27-33, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-35926570

RESUMO

OBJECTIVE: To describe the function of patients with COVID-19 admitted to an acute care hospital early in the pandemic and to characterize change in function among those admitted to intensive care units (ICU) and to non-critical care services. DESIGN: This descriptive, retrospective cohort study examined patients infected with SARS-CoV-2 admitted to a tertiary care medical center during the first wave of the pandemic in 2020. Included patients were stratified into 4 cohorts based on whether or not they received therapy during their hospitalization and whether or not their hospitalization included time in the ICU. Data on demographic characteristics, functional impairments, medical interventions, and functional outcomes were collected. SETTING: Hospital. PARTICIPANTS: 432 adult patients were included in this study (N=432). RESULTS: ICU patients receiving therapy were more likely to have impaired cognition, impaired strength, and impaired sensation than non-ICU patients receiving therapy. Patients made improvements from evaluation to discharge on the Functional Status Score for the ICU, Activity Measure for Post-Acute Care Daily Activity, and AM-PAC Basic Mobility Short Forms. CONCLUSION: Patients admitted with COVID-19 experienced significant functional impairments but also demonstrated improvement during the course of their hospitalizations. This study can facilitate health care provider awareness of the detrimental functional effects of COVID-19 and the potential role of rehabilitation services for these patients.


Assuntos
COVID-19 , Adulto , Humanos , SARS-CoV-2 , Estudos Retrospectivos , Hospitalização , Modalidades de Fisioterapia , Unidades de Terapia Intensiva
2.
Genet Med ; 19(12)2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-28771246

RESUMO

Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition resulting in hepatic failure with comorbidities involving the renal and neurologic systems and long term risks for hepatocellular carcinoma. An effective medical treatment with 2-[2-nitro-4-trifluoromethylbenzoyl]-1,3-cyclohexanedione (NTBC) exists but requires early identification of affected children for optimal long-term results. Newborn screening (NBS) utilizing blood succinylacetone as the NBS marker is superior to observing tyrosine levels as a way of identifying neonates with HT-1. If identified early and treated appropriately, the majority of affected infants can remain asymptomatic. A clinical management scheme is needed for infants with HT-1 identified by NBS or clinical symptoms. To this end, a group of 11 clinical practitioners, including eight biochemical genetics physicians, two metabolic dietitian nutritionists, and a clinical psychologist, from the United States and Canada, with experience in providing care for patients with HT-1, initiated an evidence- and consensus-based process to establish uniform recommendations for identification and treatment of HT-1. Recommendations were developed from a literature review, practitioner management survey, and nominal group process involving two face-to-face meetings. There was strong consensus in favor of NBS for HT-1, using blood succinylacetone as a marker, followed by diagnostic confirmation and early treatment with NTBC and diet. Consensus recommendations for both immediate and long-term clinical follow-up of positive diagnoses via both newborn screening and clinical symptomatic presentation are provided.


Assuntos
Tirosinemias/diagnóstico , Tirosinemias/terapia , Canadá , Cicloexanonas/uso terapêutico , Dietoterapia , Gerenciamento Clínico , Feminino , Aconselhamento Genético , Genótipo , Humanos , Recém-Nascido , Transplante de Fígado , Adesão à Medicação , Triagem Neonatal/métodos , Nitrobenzoatos/uso terapêutico , Fenótipo , Gravidez , Complicações na Gravidez , Tirosinemias/complicações , Tirosinemias/etiologia , Estados Unidos
3.
Orphanet J Rare Dis ; 10: 17, 2015 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-25758373

RESUMO

Patients with Phenylketonuria (PKU) reportedly have decreased bone mineral density (BMD). The primary aim of this study was to perform a systematic review and meta-analysis to determine the extent and significance of low BMD in early treated patients with PKU. Secondary aims were to assess other bone status indicators including bone turnover markers (BTM) and to define areas for future research. Two research teams (Amsterdam, Netherlands and Atlanta, USA) performed literature searches for articles reporting data on BMD, osteopenia and osteoporosis, BTM or other bone indicators in patients with PKU. Included articles were compared between research teams and assessed for quality and risk of bias. A total of 13 unique articles were included; 11/13 articles reported BMD including a total of 360 patients. Ten out of 11 articles found BMD was significantly lower in patients with PKU. Meta-analyses for total BMD (TBMD; 3 studies; n = 133), lumbar spine BMD (LBMD; 7 studies; n = 247), and femoral neck BMD (FBMD; 2 studies; n = 78) Z-scores were performed. Overall effect sizes were: TBMD -0.45 (95% CI -0.61, -0.28); LBMD -0.70 (95% CI -0.82, -0.57); FBMD -0.96 (95% CI -1.42, -0.49). Definitions of osteopenia and osteoporosis were highly heterogeneous between studies and did not align with World Health Organization standards and the International Society for Clinical Densitometry positions on BMD measurement. Despite individual study findings of low BMD indicating higher risk of osteoporosis, pooled available data suggest reduction in BMD is not clinically important when using standard definitions of low BMD. Results from studies evaluating BTM are inconclusive. Phenylalanine concentration, vitamin D, PTH, and nutrient intake do not correlate with BMD or BTM. We recommend forthcoming studies use standard definitions of low BMD to determine clinical implications of BMD Z-scores below 0, explore cause of low BMD in the subset of patients with low BMD for chronological age (Z-score < -2) and assess fracture risk in patients with PKU.


Assuntos
Densidade Óssea/fisiologia , Fenilcetonúrias/complicações , Envelhecimento , Fraturas Ósseas , Humanos
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