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1.
Ment Health Clin ; 14(2): 92-96, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38694886

RESUMO

Introduction: Studies indicate that long-acting injectable antipsychotics (LAIAs) reduce the risk of relapse and hospitalization compared with oral antipsychotics (APs) in adults. Oral formulations of APs are well-studied in the pediatric population, but little is known regarding the off-label use of LAIAs in this population. Methods: This retrospective chart review evaluated readmission rates for pediatric patients admitted to a psychiatric ward in a large academic hospital between January 1, 2015, and December 1, 2022, requiring AP therapy. The experimental group included patients initiated on LAIA therapy, and the control group included patients initiated on a new oral AP. Patients were matched by several clinical factors. Results: Each group consisted of 38 patients. For the primary outcome, hospital readmission rates at 3 months, the LAIA group had a 13.2% readmission rate compared with 26.3% in the comparator group (p = .153). In months 4 through 6, there was a 5.3% versus 15.8% readmission rate, respectively (p = .139). In months 7 through 12, it was 7.9% versus 18.4% (p = .179). There were significantly fewer cumulative readmissions at the 1-year mark in the LAIA group (N = 9, 23.7%) compared with the oral AP group (N = 18, 47.4%) (p = .031). No statistically significant differences were seen in hospital length of stay although results numerically favored LAIA. Discussion: In a pediatric population, the administration of an LAIA when compared with the oral equivalent resulted in numerically fewer hospital readmissions, decreased length of stay, and fewer adverse effects, but these effects were not statistically significant except for cumulative readmissions at 1 year.

2.
Clin Oncol (R Coll Radiol) ; 36(2): 107-118, 2024 02.
Artigo em Inglês | MEDLINE | ID: mdl-38151439

RESUMO

AIMS: The aim of this network meta-analysis was to elucidate the efficacy and safety of various immune checkpoint inhibitors (ICIs) used in combination with chemotherapy for the treatment of non-small cell lung cancer (NSCLC). MATERIALS AND METHODS: Data from randomised controlled trials comparing perioperative ICI-chemotherapy and chemotherapy alone were acquired from the EMBASE, Web of Science, Cochrane Library databases, PubMed, and meeting abstracts from inception until August 2023. The endpoints for this analysis were pathological complete response, event-free survival and treatment-related adverse events of any grade or adverse events of grade 3 or higher. RESULTS: In total, six randomised controlled trials with 2538 NSCLC patients were selected for this network meta-analysis. Compared with other ICIs, toripalimab + chemotherapy demonstrated increased pathological complete response rates and prolonged event-free survival in NSCLC. In patients with negative/low PD-L1 expression or squamous cell pathology, toripalimab + chemotherapy was the most effective regimen. In contrast, nivolumab + chemotherapy was preferable for patients with high PD-L1 expression or non-squamous cell pathology. Among the analysed regimens, toripalimab + chemotherapy presented the highest risk of adverse events of any grade, whereas nivolumab + chemotherapy showed the highest risk of grade 3-4 adverse events. Conversely, durvalumab + chemotherapy exhibited the lowest risk of grade 3-4 adverse events. CONCLUSIONS: Among the evaluated perioperative immunochemotherapy regimens, toripalimab + chemotherapy indicated a significantly increased survival benefit for most resectable NSCLC patients. However, for high PD-L1 expression and non-squamous NSCLC patients, nivolumab + chemotherapy provided the most potent outcomes. Perioperative durvalumab + chemotherapy is a relatively safe treatment. The findings of this investigation are expected to assist clinicians in making informed decisions among promising treatment options.


Assuntos
Carcinoma Pulmonar de Células não Pequenas , Neoplasias Pulmonares , Humanos , Carcinoma Pulmonar de Células não Pequenas/tratamento farmacológico , Carcinoma Pulmonar de Células não Pequenas/cirurgia , Nivolumabe/uso terapêutico , Neoplasias Pulmonares/tratamento farmacológico , Neoplasias Pulmonares/cirurgia , Antígeno B7-H1 , Metanálise em Rede , Ensaios Clínicos Controlados Aleatórios como Assunto
3.
BMC Med Res Methodol ; 22(1): 229, 2022 08 16.
Artigo em Inglês | MEDLINE | ID: mdl-35971088

RESUMO

An increasing number of large-scale multi-modal research initiatives has been conducted in the typically developing population, e.g. Dev. Cogn. Neur. 32:43-54, 2018; PLoS Med. 12(3):e1001779, 2015; Elam and Van Essen, Enc. Comp. Neur., 2013, as well as in psychiatric cohorts, e.g. Trans. Psych. 10(1):100, 2020; Mol. Psych. 19:659-667, 2014; Mol. Aut. 8:24, 2017; Eur. Child and Adol. Psych. 24(3):265-281, 2015. Missing data is a common problem in such datasets due to the difficulty of assessing multiple measures on a large number of participants. The consequences of missing data accumulate when researchers aim to integrate relationships across multiple measures. Here we aim to evaluate different imputation strategies to fill in missing values in clinical data from a large (total N = 764) and deeply phenotyped (i.e. range of clinical and cognitive instruments administered) sample of N = 453 autistic individuals and N = 311 control individuals recruited as part of the EU-AIMS Longitudinal European Autism Project (LEAP) consortium. In particular, we consider a total of 160 clinical measures divided in 15 overlapping subsets of participants. We use two simple but common univariate strategies-mean and median imputation-as well as a Round Robin regression approach involving four independent multivariate regression models including Bayesian Ridge regression, as well as several non-linear models: Decision Trees (Extra Trees., and Nearest Neighbours regression. We evaluate the models using the traditional mean square error towards removed available data, and also consider the Kullback-Leibler divergence between the observed and the imputed distributions. We show that all of the multivariate approaches tested provide a substantial improvement compared to typical univariate approaches. Further, our analyses reveal that across all 15 data-subsets tested, an Extra Trees regression approach provided the best global results. This not only allows the selection of a unique model to impute missing data for the LEAP project and delivers a fixed set of imputed clinical data to be used by researchers working with the LEAP dataset in the future, but provides more general guidelines for data imputation in large scale epidemiological studies.


Assuntos
Transtorno Autístico , Transtorno Autístico/genética , Teorema de Bayes , Criança , Coleta de Dados/métodos , Humanos
4.
J Physician Assist Educ ; 33(2): 114-118, 2022 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-35511459

RESUMO

PURPOSE: The purpose of this study was to assess the effect of Team Strategies and Tools to Enhance Performance and Patient Safety (TeamSTEPPS) on student self-perceived competencies and perceptions of interprofessional (IP) communication and teamwork in a clinical case review activity. TeamSTEPPS is an evidence-based curriculum that is used to enhance and support IP healthcare communication. METHODS: A repeated-measures, pretest/posttest study evaluated physician assistant students' and student pharmacists' perceptions of TeamSTEPPS. Students completed Performance Assessment for Communication and Teamwork (PACT) surveys, evaluating teamwork, knowledge, attitudes, and skills perceptions before and after a TeamSTEPPS lecture and associated activity with peer feedback. RESULTS: Overall, 87.4% (n = 429) completed pre- and post-PACT surveys. Apart from the Mutual Support domain (p = .898), all changes were significantly positive (p < .004), with the greatest improvements occurring in the Attitudes and Perceived Skills domains. CONCLUSION: TeamSTEPPS IP education, application, and peer feedback improved students' perceptions of multiple domains, including effective communication. Using TeamSTEPPS tools in IP formats enabled the students to safely practice and collaborate in preparation for clinical practice.


Assuntos
Farmácia , Assistentes Médicos , Comunicação , Humanos , Educação Interprofissional , Relações Interprofissionais , Equipe de Assistência ao Paciente , Assistentes Médicos/educação , Estudantes
5.
J Ultrasound Med ; 41(6): 1455-1463, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34529280

RESUMO

OBJECTIVES: The aim of our study was to compare the live birth rate following fresh embryo transfer (ET) during in vitro fertilization (IVF) in women with or without endometrial compaction in thickness and volume between the day of human chorionic gonadotrophin (hCG) and the ET day. METHODS: This is a retrospective analysis of infertile women undergoing the first IVF cycle with fresh ET. A single operator performed all the ultrasound measurements for endometrial thickness and endometrial volume using three-dimensional ultrasound. Endometrial compaction was calculated as the difference of the measurement between the hCG day and ET day. The predictive values of age of women, number of embryos transferred, and endometrial compaction in thickness and volume on live birth were studied. RESULTS: A total of 268 women who underwent the first IVF cycle with fresh ET between June 2005 and August 2006 were included in this retrospective analysis. Endometrial thickness was significantly higher on the ET day than the hCG day while endometrial volume was significantly smaller on the ET day than the hCG day. Women with a live birth were younger, had a higher serum estradiol level on the hCG day, and similar absolute or percentage change of endometrial thickness and volume when compared to those without a live birth. CONCLUSION: Endometrial thickness and volume compaction was not a significant predictor of live birth in the multivariate logistic regression model. Endometrial thickness and volume compaction did not affect the live birth rate in the fresh IVF cycle.


Assuntos
Coeficiente de Natalidade , Infertilidade Feminina , Gonadotropina Coriônica , Transferência Embrionária , Feminino , Fertilização in vitro/métodos , Humanos , Infertilidade Feminina/diagnóstico por imagem , Infertilidade Feminina/terapia , Nascido Vivo , Gravidez , Taxa de Gravidez , Estudos Retrospectivos
6.
Ment Health Clin ; 11(6): 347-357, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34824959

RESUMO

Stimulant use disorder (SUD) is a public health problem in the United States that is associated with increased morbidity and mortality. Psychosocial interventions, such as cognitive behavioral therapy and contingency management, are the main treatment modality for SUDs and no pharmacotherapy is currently FDA approved for this indication. Although some medications show promising data for the treatment of SUD, the evidence remains inconsistent, and the clinical application is limited due to the heterogenicity of the population and the lack of studies in patients with various comorbidities. Selection of pharmacotherapy treatment for methamphetamine intoxication, persistent methamphetamine-associated psychosis with methamphetamine use disorder, and cocaine use disorder in patients with co-occurring OUD are discussed in 3 patient cases.

8.
Am J Manag Care ; 26(4 Suppl): S85-S90, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32282178

RESUMO

Up to 10% of the US adult population will experience chronic insomnia, with women and elderly individuals at particularly high risk. Cognitive behavioral therapy is the core treatment for insomnia. When cognitive behavioral therapy is not enough, medications can help patients overcome the barriers and learned behaviors that prevent a good night's sleep. Benzodiazepines and nonbenzodiazepine GABA-A receptor agonists are the traditional medications used to treat insomnia. More recently, orexin inhibitors have been introduced that may have fewer adverse effects, including the development of dependence. To date, only suvorexant and lemborexant have been approved for the treatment of insomnia. However, several other agents are in later stages of development. This article will review the available pharmacotherapeutic options for treating insomnia.


Assuntos
Distúrbios do Início e da Manutenção do Sono , Idoso , Benzodiazepinas/uso terapêutico , Feminino , Humanos , Hipnóticos e Sedativos/uso terapêutico , Sono/efeitos dos fármacos , Distúrbios do Início e da Manutenção do Sono/tratamento farmacológico
9.
Zhonghua Er Ke Za Zhi ; 57(7): 526-531, 2019 Jul 02.
Artigo em Chinês | MEDLINE | ID: mdl-31269552

RESUMO

Objective: To investigate the effect of the endoscopic selective varices devascularization (ESVD) for the esophageal gastric varices bleeding (EGVB) in children. Methods: The clinical data of the patients diagnosed with EGVB and treated with ESVD from January 2018 to March 2018 were retrospectively analyzed. The effects, safety and complications of ESVD were evaluated. Results: There were five patients (including 2 males and 3 females, age ranged from 4 to 7 years) in the study. No rebleeding was found at the first follow-up on one week post operation. Three patients were treated with the endo-therapy at the twice follow-up (3 months after surgery): 2 patients had ESVD again and 1 patient had resection under endoscopy due to stenosis caused by surgical scar. After the second procedure, there was no rebleeding but one patient had abdominal pain caused by mesenteric thrombosis, cured with low molecular weight heparin. Conclusion: The ESVD for EGVB is safe and effective, but the long-term curative effect should be further studied.


Assuntos
Procedimentos Cirúrgicos do Sistema Digestório/métodos , Esôfago/cirurgia , Hemorragia Gastrointestinal/cirurgia , Veias/cirurgia , Criança , Pré-Escolar , Endoscopia , Varizes Esofágicas e Gástricas/complicações , Varizes Esofágicas e Gástricas/diagnóstico por imagem , Varizes Esofágicas e Gástricas/cirurgia , Esôfago/irrigação sanguínea , Feminino , Seguimentos , Hemorragia Gastrointestinal/etiologia , Humanos , Masculino , Recidiva , Estudos Retrospectivos , Resultado do Tratamento
10.
Ment Health Clin ; 9(3): 133-137, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31123661

RESUMO

Designer products, a term referring to analogs of known chemical compounds with no established medical use, represent an easily accessible alternative to prescription-only products. During the past decade, designer benzodiazepines have become widely available on the online forums. Although these agents offer individuals an inexpensive and accessible alternative to prescription-only products, they are not without risk. Because of the lack of federally enforced quality standards, these designer products come with an intrinsic risk of unpredictable and potentially toxic adverse effects. This article presents a 36-year-old male with prolonged bradycardia resulting from the use of flubromazolam, a designer benzodiazepine purchased from the Internet. A PubMed search was conducted for flubromazolam, designer benzodiazepine, and flumazenil. This article will summarize the available literature regarding flubromazolam and the role of flumazenil in managing these overdoses.

11.
Cell Metab ; 30(1): 190-200.e6, 2019 07 02.
Artigo em Inglês | MEDLINE | ID: mdl-31105043

RESUMO

Mitochondrial abundance and function are tightly controlled during metabolic adaptation but dysregulated in pathological states such as diabetes, neurodegeneration, cancer, and kidney disease. We show here that translation of PGC1α, a key governor of mitochondrial biogenesis and oxidative metabolism, is negatively regulated by an upstream open reading frame (uORF) in the 5' untranslated region of its gene (PPARGC1A). We find that uORF-mediated translational repression is a feature of PPARGC1A orthologs from human to fly. Strikingly, whereas multiple inhibitory uORFs are broadly present in fish PPARGC1A orthologs, they are completely absent in the Atlantic bluefin tuna, an animal with exceptionally high mitochondrial content. In mice, an engineered mutation disrupting the PPARGC1A uORF increases PGC1α protein levels and oxidative metabolism and confers protection from acute kidney injury. These studies identify a translational regulatory element governing oxidative metabolism and highlight its potential contribution to the evolution of organismal mitochondrial function.


Assuntos
Regiões 5' não Traduzidas/genética , Fases de Leitura Aberta/genética , Coativador 1-alfa do Receptor gama Ativado por Proliferador de Peroxissomo/metabolismo , Animais , Dípteros , Feminino , Células HEK293 , Humanos , Imunoprecipitação , Masculino , Camundongos , Mutação/genética , Coativador 1-alfa do Receptor gama Ativado por Proliferador de Peroxissomo/genética , Filogenia , Processamento de Proteína Pós-Traducional/genética , Atum , Peixe-Zebra
12.
JCI Insight ; 52019 03 14.
Artigo em Inglês | MEDLINE | ID: mdl-30870143

RESUMO

Because injured mitochondria can accelerate cell death through the elaboration of oxidative free radicals and other mediators, it is striking that proliferator gamma coactivator 1-alpha (PGC1α), a stimulator of increased mitochondrial abundance, protects stressed renal cells instead of potentiating injury. Here we report that PGC1α's induction of lysosomes via transcription factor EB (TFEB) may be pivotal for kidney protection. CRISPR and stable gene transfer showed that PGC1α knockout tubular cells were sensitized to the genotoxic stressor cisplatin whereas transgenic cells were protected. The biosensor mtKeima unexpectedly revealed that cisplatin blunts mitophagy both in cells and mice. PGC1α not only counteracted this effect but also raised basal mitophagy, as did the downstream mediator nicotinamide adenine dinucleotide (NAD+). PGC1α did not consistently affect known autophagy pathways modulated by cisplatin. Instead RNA sequencing identified coordinated regulation of lysosomal biogenesis via TFEB. This effector pathway was sufficiently important that inhibition of TFEB or lysosomes unveiled a striking harmful effect of excess PGC1α in cells and conditional mice. These results uncover an unexpected effect of cisplatin on mitophagy and PGC1α's exquisite reliance on lysosomes for kidney protection. Finally, the data illuminate TFEB as a novel target for renal tubular stress resistance.


Assuntos
Injúria Renal Aguda/genética , Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos/metabolismo , Cisplatino/toxicidade , Túbulos Renais/metabolismo , Lisossomos/metabolismo , Mitocôndrias/metabolismo , Biogênese de Organelas , Coativador 1-alfa do Receptor gama Ativado por Proliferador de Peroxissomo/genética , Injúria Renal Aguda/induzido quimicamente , Injúria Renal Aguda/metabolismo , Animais , Autofagia/efeitos dos fármacos , Autofagia/genética , Sistemas CRISPR-Cas , Técnicas de Transferência de Genes , Túbulos Renais/citologia , Camundongos , Camundongos Knockout , Camundongos Transgênicos , Mitofagia/genética , NAD/metabolismo , Estresse Oxidativo/genética , Coativador 1-alfa do Receptor gama Ativado por Proliferador de Peroxissomo/metabolismo , Análise de Sequência de RNA
13.
Nat Med ; 24(9): 1351-1359, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30127395

RESUMO

Nicotinamide adenine dinucleotide (NAD+) extends longevity in experimental organisms, raising interest in its impact on human health. De novo NAD+ biosynthesis from tryptophan is evolutionarily conserved yet considered supplanted among higher species by biosynthesis from nicotinamide (NAM). Here we show that a bottleneck enzyme in de novo biosynthesis, quinolinate phosphoribosyltransferase (QPRT), defends renal NAD+ and mediates resistance to acute kidney injury (AKI). Following murine AKI, renal NAD+ fell, quinolinate rose, and QPRT declined. QPRT+/- mice exhibited higher quinolinate, lower NAD+, and higher AKI susceptibility. Metabolomics suggested an elevated urinary quinolinate/tryptophan ratio (uQ/T) as an indicator of reduced QPRT. Elevated uQ/T predicted AKI and other adverse outcomes in critically ill patients. A phase 1 placebo-controlled study of oral NAM demonstrated a dose-related increase in circulating NAD+ metabolites. NAM was well tolerated and was associated with less AKI. Therefore, impaired NAD+ biosynthesis may be a feature of high-risk hospitalizations for which NAD+ augmentation could be beneficial.


Assuntos
Injúria Renal Aguda/metabolismo , Vias Biossintéticas , NAD/biossíntese , Injúria Renal Aguda/tratamento farmacológico , Injúria Renal Aguda/urina , Idoso , Animais , Procedimentos Cirúrgicos Cardíacos , Humanos , Isquemia/urina , Camundongos , Pessoa de Meia-Idade , Niacinamida/administração & dosagem , Niacinamida/uso terapêutico , Pentosiltransferases/metabolismo , Projetos Piloto , Ácido Quinolínico/metabolismo , Ácido Quinolínico/urina , Resultado do Tratamento , Triptofano/urina
14.
Zhonghua Er Ke Za Zhi ; 56(7): 500-504, 2018 Jul 02.
Artigo em Chinês | MEDLINE | ID: mdl-29996182

RESUMO

Objective: To summarize the clinical data including manifestations, diagnosis, treatment and prognosis of eosinophilic gastroenteritis (EGE) in children. Methods: A retrospective analysis was performed in 71 patients with pathologically proven EGE at Beijing Children's Hospital Affiliated to Capital Medical University from January 2008 to January 2017. Their clinical manifestations, laboratory and imaging examinations, endoscopic findings, histopathological examinations, and treatment were collected and analyzed. Results: Among 71 EGE cases, 47 (66%) cases were male and 24 (34%) cases were female, and the median age was 9.2 (0.2-16.5) years old. The main clinical manifestations included abdominal pain (76%, 54/71), vomiting (68%, 48/71), anorexia (54%, 38/71), weight loss (38%, 27/71), and diarrhea (37%, 26/71). There were 27 cases (38%) with a history of allergic diseases or family history. The median absolute value of eosinophil in peripheral blood of the 71 patients was 0.4 (0-36.8)×10(9)/L, and 27 cases (38%) showed an increase in eosinophil counts. Serum IgE was measured in 52 patients (104.3 (3.4- 3 000.0)×10(3) U/L), and 30 patients (58%) showed an increase in serum IgE. A large number of eosinophils ((41.0±8.5)/HP) were found in 3 patients' ascites. The endoscopic examination of upper gastrointestinal tract revealed hyperemic edema in 62 cases (87%), plaque in 44 cases (62%), erosion in 17 cases (24%) and ulceration in 16 cases (23%). Histopathologically, in 8 cases (11%) the disease involved both stomach and duodeneum, in 21 cases (30%) involved stomach only, and in 37 cases (52%) involved duodeneum only. In addition, in 6 cases (8%) the disease involved esophagus and in 10 cases (14%) involved colorectum. Microscopically, eosinophil counts averaged 67/HP, 33/HP, 40/HP and 38/HP in esophageal, gastric, duodenal and colorectal mucosa respectively. A total of 34 cases were treated with glucocorticoid, and all these patients had alleviation of symptoms, which occurred within 14.9 days on average, but EGE recurred in 11 cases (32%). Conclusions: The clinical symptoms and endoscopic findings of EGE are diverse and nonspecific. Histopathological examination of gastrointestinal mucosa is particularly important for the diagnosis. Glucocorticoid treatment is effective, but the patients with EGE are prone to relapse.


Assuntos
Enterite , Eosinofilia , Gastrite , Adolescente , Criança , Pré-Escolar , Enterite/complicações , Enterite/diagnóstico , Enterite/terapia , Eosinofilia/complicações , Eosinofilia/diagnóstico , Eosinofilia/terapia , Feminino , Gastrite/complicações , Gastrite/diagnóstico , Gastrite/terapia , Gastroenterite , Humanos , Lactente , Masculino , Estudos Retrospectivos
15.
Am J Physiol Renal Physiol ; 314(1): F1-F8, 2018 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-28931521

RESUMO

Acute kidney injury (AKI) arising from diverse etiologies is characterized by mitochondrial dysfunction. The peroxisome proliferator-activated receptor γ coactivator-1alpha (PGC1α), a master regulator of mitochondrial biogenesis, has been shown to be protective in AKI. Interestingly, reduction of PGC1α has also been implicated in the development of diabetic kidney disease and renal fibrosis. The beneficial renal effects of PGC1α make it a prime target for therapeutics aimed at ameliorating AKI, forms of chronic kidney disease (CKD), and their intersection. This review summarizes the current literature on the relationship between renal health and PGC1α and proposes areas of future interest.


Assuntos
Injúria Renal Aguda/metabolismo , Nefropatias Diabéticas/metabolismo , Rim/metabolismo , Coativador 1-alfa do Receptor gama Ativado por Proliferador de Peroxissomo/metabolismo , Insuficiência Renal Crônica/metabolismo , Injúria Renal Aguda/terapia , Animais , Nefropatias Diabéticas/terapia , Humanos , Biogênese de Organelas , Insuficiência Renal Crônica/terapia
16.
Zhonghua Er Ke Za Zhi ; 55(12): 937-941, 2017 Dec 02.
Artigo em Chinês | MEDLINE | ID: mdl-29262475

RESUMO

Objective: To analyze the clinical manifestations, diagnosis, treatment and prognosis of intestinal lymphangiectasia (IL) in children in order to improve the skills of diagnosis and treatment of IL. Method: Clinical manifestations, laboratory findings, gastroscopic findings, histopathological examinations and lymphatic radionuclide imaging assessments were analyzed retrospectively among 47 IL patients who were hospitalized in the Gastroenterology Department of Beijing Children's Hospital Affiliated to Capital Medical University from June 2007 to December 2015. All patients were followed up by telephone. According to the various causes, the patients were divided into the primary intestinal lymphangiectasia (PIL) group and secondary IL group, and their clinical manifestations were compared by t test, Rank sum test or Chi-square test. Result: In 47 IL patients, there were 38 children (81%) younger than 3 years old. There were 43 PIL patients (91%) and 4 secondary IL patients (9%). Between PIL and secondary IL, there were statistical differences in serum albumin (t=-3.950, P<0.005) , globulin(t=-2.850, P=0.007), age of onset(U=27.000, P=0.024), age at diagnosis(U=29.000, P=0.030) and course of disease(U=26.500, P=0.023), whereas there were no statistical differences in lymphocyte count, IgG, lymphatic radionuclide imaging, histopathology and gender(all P>0.05). Edema (44 cases, 94%), diarrhea (42 cases, 89%), accompanied with infection (35 cases, 74%) and ascites (30 cases, 64%) were the main clinical manifestations. In 47 IL patients, 45 patients were done gastroscopy and histopathological examinations, and there were 31 patients' histopathological examinations(69%) were positive. Forty patients were done lymphatic radionuclide imaging, and there was evidence of protein losing from gut via lymphatic radionuclide imaging in 39 patients(98%). Among 47 patients, 35 patients (74%) were followed up, 32 patients had good prognosis, 2 patient failed to show evidence of improvement, 1 patient died and no patient experienced a relapse till the end of the follow-up. In 35 patients, 28 patients were treated with medium chain triglycerides (MCT) dietary therapy, 26 patients showed improvement in symptoms, and 2 patients had no improvement. Among 35 patients with follow-up, there were 6 patients received surgical treatment, and their symptoms were improved. Conclusion: PIL are the majority of IL in children younger than 3 years old. The main clinical manifestations are edema, diarrhea, accompanied with infection and ascites. For the patients without the evidence of lymphangiectasia from duodenum histopathological examination, further consideration of lymphatic radionuclide imaging, clinical manifestations, and laboratory studies are needed to make a final diagnosis. MCT dietary therapy is the cornerstone of IL medical management.


Assuntos
Linfangiectasia Intestinal/diagnóstico , Criança , Pré-Escolar , Diarreia/etiologia , Edema/etiologia , Feminino , Humanos , Linfangiectasia , Linfangiectasia Intestinal/complicações , Linfangiectasia Intestinal/terapia , Masculino , Estudos Retrospectivos , Triglicerídeos
17.
Fa Yi Xue Za Zhi ; 33(3): 271-276, 2017 Jun.
Artigo em Chinês | MEDLINE | ID: mdl-29230993

RESUMO

OBJECTIVES: To study the genetic polymorphisms of 30 insertion/deletion (InDel) loci and evaluate their forensic application in Ewenki ethnic group from Inner Mongolia. METHODS: Peripheral blood samples were collected from 87 unrelated healthy individuals in Ewenki ethnic group. Genomic DNA were extracted, and 30 InDel loci of the samples were multiplex amplified and genotyped. Hardy-Weinberg balance tests were preformed for all loci and genetic parameters were calculated by modified PowerStats v1.2 software. The linkage disequilibrium between loci were tested by SNPAnalyzer v2.0 software. Based on the allele frequencies of 30 InDel loci, the genetic relationships between Ewenki ethnic group and other populations were evaluated by analysis of molecular variance, principal component analysis and phylogenetic reconstruction. RESULTS: After correction, 30 InDel loci conformed to Hardy-Weinberg equilibrium. It was found that the pairwise InDel loci were in linkage equilibrium after Bonferroni correction. The results of population genetics indicated that Ewenki ethnic group had close genetic relationships with Henan Han and Beijing Han populations; whereas it was significantly different from several populations in Europe and Mexico. CONCLUSIONS: There are relatively high genetic polymorphisms on 30 InDel loci of Ewenki ethnic group from Inner Mongolia, which can be used as a helpful supplement application for STR detection system.


Assuntos
Povo Asiático/genética , Loci Gênicos , Mutação INDEL , Desequilíbrio de Ligação , Polimorfismo Genético , Povo Asiático/etnologia , Pequim , China/epidemiologia , DNA , Etnicidade/genética , Frequência do Gene , Genética Populacional , Genótipo , Humanos , Repetições de Microssatélites , Filogenia , Comportamento Social
18.
Nature ; 531(7595): 528-32, 2016 Mar 24.
Artigo em Inglês | MEDLINE | ID: mdl-26982719

RESUMO

The energetic burden of continuously concentrating solutes against gradients along the tubule may render the kidney especially vulnerable to ischaemia. Acute kidney injury (AKI) affects 3% of all hospitalized patients. Here we show that the mitochondrial biogenesis regulator, PGC1α, is a pivotal determinant of renal recovery from injury by regulating nicotinamide adenine dinucleotide (NAD) biosynthesis. Following renal ischaemia, Pgc1α(-/-) (also known as Ppargc1a(-/-)) mice develop local deficiency of the NAD precursor niacinamide (NAM, also known as nicotinamide), marked fat accumulation, and failure to re-establish normal function. Notably, exogenous NAM improves local NAD levels, fat accumulation, and renal function in post-ischaemic Pgc1α(-/-) mice. Inducible tubular transgenic mice (iNephPGC1α) recapitulate the effects of NAM supplementation, including more local NAD and less fat accumulation with better renal function after ischaemia. PGC1α coordinately upregulates the enzymes that synthesize NAD de novo from amino acids whereas PGC1α deficiency or AKI attenuates the de novo pathway. NAM enhances NAD via the enzyme NAMPT and augments production of the fat breakdown product ß-hydroxybutyrate, leading to increased production of prostaglandin PGE2 (ref. 5), a secreted autacoid that maintains renal function. NAM treatment reverses established ischaemic AKI and also prevented AKI in an unrelated toxic model. Inhibition of ß-hydroxybutyrate signalling or prostaglandin production similarly abolishes PGC1α-dependent renoprotection. Given the importance of mitochondrial health in ageing and the function of metabolically active organs, the results implicate NAM and NAD as key effectors for achieving PGC1α-dependent stress resistance.


Assuntos
Injúria Renal Aguda/metabolismo , Rim/metabolismo , NAD/biossíntese , Fatores de Transcrição/metabolismo , Ácido 3-Hidroxibutírico/metabolismo , Injúria Renal Aguda/tratamento farmacológico , Tecido Adiposo/efeitos dos fármacos , Tecido Adiposo/metabolismo , Aminoácidos/metabolismo , Animais , Citocinas/metabolismo , Dinoprostona/biossíntese , Dinoprostona/metabolismo , Humanos , Isquemia/tratamento farmacológico , Isquemia/metabolismo , Rim/efeitos dos fármacos , Rim/fisiologia , Rim/fisiopatologia , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Mitocôndrias/metabolismo , Niacinamida/deficiência , Niacinamida/farmacologia , Niacinamida/uso terapêutico , Nicotinamida Fosforribosiltransferase/metabolismo , Oxirredução , Coativador 1-alfa do Receptor gama Ativado por Proliferador de Peroxissomo , Transdução de Sinais/efeitos dos fármacos , Estresse Fisiológico , Fatores de Transcrição/deficiência
19.
AJNR Am J Neuroradiol ; 37(6): 1044-9, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26869469

RESUMO

BACKGROUND AND PURPOSE: A high incidence of cardiac-type Fabry disease with an α-galactosidase A mutation, IVS4 + 919 G>A, has been identified in the Taiwanese population. The neurologic manifestation has not been understood in this specific cardiac variant. This study aimed to investigate the typical imaging features of classic Fabry disease in patients with IVS4 Fabry disease. MATERIALS AND METHODS: Twenty-six patients with IVS4-type Fabry disease (20 men and 6 women; age range, 43-71 years; median age, 61 years) and 26 age- and sex-matched healthy controls (age range, 44-68 years; median age, 60 years) were analyzed for white matter hyperintensities, the pulvinar sign, and basilar artery diameter. The volumes of white matter hyperintensities were calculated by comparison with an in-house data base of 276 controls. RESULTS: Infarctions were found in 9 patients with IVS4 Fabry disease (35%) and in none of the healthy controls (P = .001). A pulvinar sign was found in 8 patients with IVS4 Fabry disease (30%) and in none of the healthy controls (P = .002). No significant difference was found in Fazekas scale scores for white matter hyperintensities; however, white matter hyperintensity volume in the deep white matter was higher in patients with IVS4 Fabry disease than in those from the healthy control data base (P = .004). CONCLUSIONS: Along with its involvement of the cardiac system, IVS4-type Fabry disease has features similar to those of classic Fabry disease and a higher frequency of deep white matter hyperintensities and a higher incidence of infarctions and pulvinar signs than in healthy controls.


Assuntos
Encéfalo/diagnóstico por imagem , Doença de Fabry/diagnóstico por imagem , Doença de Fabry/genética , Cardiopatias/diagnóstico por imagem , Cardiopatias/genética , alfa-Galactosidase/genética , Adulto , Idoso , Artéria Basilar/diagnóstico por imagem , Infarto Cerebral/diagnóstico por imagem , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Mutação , Pulvinar/diagnóstico por imagem , Caracteres Sexuais , Substância Branca/diagnóstico por imagem
20.
Ment Health Clin ; 6(4): 171-177, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29955466

RESUMO

INTRODUCTION: Many psychotropic medications carry a risk of prolonging the QT interval and increasing the risk of developing Torsade de pointes (TdP). The goal of this study was to evaluate whether patients taking psychotropic agents with a known risk of TdP are being monitored at a community hospital through the use of electrocardiograms (EKGs). METHODS: This was a retrospective chart review of 100 adult patients-50 from general medicine floors and 50 from psychiatric units-who were taking at least one psychotropic agent with a known risk of TdP during hospitalization. RESULTS: The mean number of medications with QT-prolongation risk administered to the psychiatric and general medicine patients was 4.2 ± 1.7 and 3.9 ± 2.0, respectively (P = .7484). Thirty-two of the psychiatric patients (64%) and 48 of the general medicine patients (96%) received EKGs during their hospitalization (P < 0.0001). Of those newly starting the target medications, 58% (18 of 31) of the psychiatric patients and 71% (5 of 7) of the general medicine patients received a baseline EKG. The difference was not statistically significant (P = .6807). Overall, 8 patients (8%) had corrected QT (QTc) intervals >500 ms. Four had repeat EKGs performed, and none had medication changes made to decrease TdP risk. DISCUSSION: Many inpatients on psychiatric medications received multiple medications with a risk of TdP, but not all received monitoring through baseline or repeat EKGs when warranted. Patients with QTc intervals >500 ms were not appropriately managed to lower their risk of TdP. Pharmacists thus can help improve the monitoring and management of QT prolongation.

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