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1.
Genome Med ; 15(1): 81, 2023 10 07.
Artigo em Inglês | MEDLINE | ID: mdl-37805537

RESUMO

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impaired social and communication skills, restricted interests, and repetitive behaviors. The prevalence of ASD among children in Qatar was recently estimated to be 1.1%, though the genetic architecture underlying ASD both in Qatar and the greater Middle East has been largely unexplored. Here, we describe the first genomic data release from the BARAKA-Qatar Study-a nationwide program building a broadly consented biorepository of individuals with ASD and their families available for sample and data sharing and multi-omics research. METHODS: In this first release, we present a comprehensive analysis of whole-genome sequencing (WGS) data of the first 100 families (372 individuals), investigating the genetic architecture, including single-nucleotide variants (SNVs), copy number variants (CNVs), tandem repeat expansions (TREs), as well as mitochondrial DNA variants (mtDNA) segregating with ASD in local families. RESULTS: Overall, we identify potentially pathogenic variants in known genes or regions in 27 out of 100 families (27%), of which 11 variants (40.7%) were classified as pathogenic or likely-pathogenic based on American College of Medical Genetics (ACMG) guidelines. Dominant variants, including de novo and inherited, contributed to 15 (55.6%) of these families, consisting of SNVs/indels (66.7%), CNVs (13.3%), TREs (13.3%), and mtDNA variants (6.7%). Moreover, homozygous variants were found in 7 families (25.9%), with a sixfold increase in homozygous burden in consanguineous versus non-consanguineous families (13.6% and 1.8%, respectively). Furthermore, 28 novel ASD candidate genes were identified in 20 families, 23 of which had recurrent hits in MSSNG and SSC cohorts. CONCLUSIONS: This study illustrates the value of ASD studies in under-represented populations and the importance of WGS as a comprehensive tool for establishing a molecular diagnosis for families with ASD. Moreover, it uncovers a significant role for recessive variation in ASD architecture in consanguineous settings and provides a unique resource of Middle Eastern genomes for future research to the global ASD community.


Assuntos
Transtorno do Espectro Autista , Criança , Humanos , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/genética , Catar/epidemiologia , Genoma , Variações do Número de Cópias de DNA , Genômica , DNA Mitocondrial , Predisposição Genética para Doença
2.
BMC Psychiatry ; 23(1): 141, 2023 03 07.
Artigo em Inglês | MEDLINE | ID: mdl-36882727

RESUMO

BACKGROUND: Psychotic experiences are reported in the general population. The Questionnaire for Psychotic Experiences (QPE) was created to test the phenomenological features of these experiences and compare them with those reported in patients with psychiatric and other medical conditions. The aim of this study was to test the psychometric properties of the Arabic version of the QPE. METHODS: We recruited 50 patients with psychotic disorders from the Hamad Medical Hospital in Doha, Qatar. Patients underwent assessment over three sessions with trained interviewees using the Arabic versions of QPE, Positive and Negative Syndrome Scale (PANSS), Beck Depression Inventory (BDI), and the Global Assessment of Functioning Scale (GAF). Patients were also reassessed using the QPE and GAF after 14-days from the initial assessment in order to test for the stability of the scale. In this respect, this is the first study that assesses the test-retest reliability of the QPE. The psychometric properties including convergent validity, stability, and internal consistency met the benchmarked criteria. RESULTS: Results confirmed that the Arabic version of QPE accurately measured the experiences of patients that were also reported using the PANSS, an internationally accepted, well-established scale for measuring psychotic symptom severity. CONCLUSION: We propose the use of the QPE to describe the phenomenology of PEs across modalities in Arabic speaking communities.


Assuntos
Transtornos Psicóticos , Humanos , Benchmarking , Hospitais , Transtornos Psicóticos/diagnóstico , Reprodutibilidade dos Testes
3.
Am J Clin Pathol ; 157(4): 573-577, 2022 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-34788366

RESUMO

OBJECTIVES: Bone marrow collections are often difficult, and creating quality smears and touch preparations at the bedside can prove challenging. The objective of this study is to compare the quality of bone marrow specimens between unassisted and assisted bone marrow collections by a bone marrow technologist. METHODS: Data for this study were collected from 422 hematopathology reports over 14 months. We recorded the bone marrow quality of the different parts (aspirate smears, touch imprints, core biopsy, and clot/particle sections) as adequate, suboptimal, or inadequate. Student t test statistical analysis was performed between the corresponding parts in the two groups. RESULTS: Our results demonstrate that the quality of assisted bone marrow specimens is significantly better compared with unassisted specimens, particularly for the aspirate smears (P < .0001) and touch imprints (P < .0001). Notably, the quality of aspirate smears was improved, which is important for cytologic evaluation. CONCLUSIONS: We conclude that assistance by a bone marrow technologist resulted in a significant improvement in the quality of bone marrow collection.


Assuntos
Medula Óssea , Medula Óssea/patologia , Exame de Medula Óssea , Humanos
4.
Int J Mol Sci ; 22(12)2021 Jun 18.
Artigo em Inglês | MEDLINE | ID: mdl-34207213

RESUMO

Autism spectrum disorder (ASD) is a multifaced neurodevelopmental disorder that becomes apparent during early childhood development. The complexity of ASD makes clinically diagnosing the condition difficult. Consequently, by identifying the biomarkers associated with ASD severity and combining them with clinical diagnosis, one may better factionalize within the spectrum and devise more targeted therapeutic strategies. Currently, there are no reliable biomarkers that can be used for precise ASD diagnosis. Consequently, our pilot experimental cohort was subdivided into three groups: healthy controls, individuals those that express severe symptoms of ASD, and individuals that exhibit mild symptoms of ASD. Using next-generation sequencing, we were able to identify several circulating non-coding RNAs (cir-ncRNAs) in plasma. To the best of our knowledge, this study is the first to show that miRNAs, piRNAs, snoRNAs, Y-RNAs, tRNAs, and lncRNAs are stably expressed in plasma. Our data identify cir-ncRNAs that are specific to ASD. Furthermore, several of the identified cir-ncRNAs were explicitly associated with either the severe or mild groups. Hence, our findings suggest that cir-ncRNAs have the potential to be utilized as objective diagnostic biomarkers and clinical targets.


Assuntos
Transtorno do Espectro Autista/sangue , Ácidos Nucleicos Livres/sangue , RNA Longo não Codificante/sangue , Pequeno RNA não Traduzido/sangue , Adolescente , Transtorno do Espectro Autista/diagnóstico , Biomarcadores/sangue , Criança , Pré-Escolar , Feminino , Humanos , Masculino
5.
Artigo em Inglês | MEDLINE | ID: mdl-32899918

RESUMO

The incidence of enteric viruses in treated wastewater and their potential release into the environment or use for agriculture are very critical matters in public health. In our study, PCR (polymerase chain reaction) analysis of enteric viruses was performed on 59 samples of influents and effluents collected from Tubli wastewater treatment plant (Water Pollution Control Center (WPCC)) and Tubli Bay, where the effluents were discharged, in Kingdom of Bahrain during two sampling periods. Four clinically essential waterborne enteric viruses were examined: enterovirus (EV), hepatitis A virus (HAV), astroviruses (AV), and rotaviruses (RV) and compared to standard bacterial and bacteriophages indicators of fecal pollution. Detection rates of EV, AV, HAV, and RV in the influent samples were 100%, 75%, 12.5%, and 12.5%, respectively, while 50% of the effluent samples from Tubli WPCC contained only EV RNA. None of the tested enteric viruses could be detected in any of the samples collected directly from Tubli Bay. Effluent samples from Tubli plant did not show significant seasonal differences. Since detection of enteric viruses genome does not necessarily indicate infectivity, the infectivity of these viruses was evaluated through isolation and growth of indictor bacteria and bacteriophages. High concentration of fecal bacteriological indicators was detected in all effluents samples (100%): 3.20 × 103 cfu/mL for E. coli, 1.32 × 103 cfu/mL for Salmonella spp., and 1.92 × 103 cfu/mL for Shigella spp. E. coli and Salmonella specific bacteriophages were also detected in the effluent samples in high titers. The combined results of PCR and bacterial enumeration point to a probable public health risk via the use of these wastewaters in agriculture or their discharge into the sea. Continuous surveillance of viral and bacterial prevalence and their resistance to sewage disinfection procedures could contribute to a better control of risks associated with the recycling of effluent wastewater and its release into the environment.


Assuntos
DNA Viral/isolamento & purificação , Enterovirus/isolamento & purificação , Escherichia coli/isolamento & purificação , RNA Viral/isolamento & purificação , Esgotos/virologia , Águas Residuárias/microbiologia , Águas Residuárias/virologia , Bactérias/genética , Baías , Enterovirus/genética , Escherichia coli/genética , Humanos , RNA Viral/metabolismo , Vírus/genética , Água , Microbiologia da Água
6.
Medicina (Kaunas) ; 56(5)2020 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-32344807

RESUMO

Hepatitis E Virus (HEV) is emerging as the primary cause of acute viral hepatitis in humans. The virus is commonly transmitted by the fecal-oral route via contaminated water in endemic regions or through the consumption of inadequately cooked swine products or game meats in industrialized regions. HEV genotypes 1 and 2 are predominantly associated with waterborne transmission in developing countries, whereas HEV3 and HEV4 are mainly zoonotically transmitted in industrialized countries. Seroprevalence in populations determined by detecting anti-HEV antibodies and serum HEV RNA is commonly used to analyze the presence of HEV. Although HEV RNA-based detection is now standardized, there is a lack of agreement between the assaying methods used for gathering seroprevalence data. Since 2004, HEV has been considered as a transmissible infectious agent through blood transfusion. Recent seroprevalence studies in European countries indicate an underestimated risk for blood transfusion and hence warrant testing the blood supply. HEV infection is usually self-limiting and spontaneously cleared. However, in about 60% of recipients of solid organ transplants, HEV progresses to chronic hepatitis. Immunosuppressive drugs such as tacrolimus are a major cause of chronic hepatitis and reducing its dosage results in viral clearance in about 30% of patients. In hemodialysis patients, the parenteral route is implicated as an important mechanism of transmission. In this review, we explore the clinical and epidemiological characteristics of various HEV genotypes in blood donors, hemodialysis patients, and transplant recipients.


Assuntos
Transfusão de Sangue/métodos , Hepatite E/complicações , Transplante de Órgãos/tendências , Diálise Renal/métodos , Transfusão de Sangue/tendências , Hepatite E/fisiopatologia , Vírus da Hepatite E/patogenicidade , Humanos , Transplante de Órgãos/métodos , Diálise Renal/tendências
7.
J Phys Conf Ser ; 1294(6): 062097, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32288777

RESUMO

Middle East Respiratory Syndrome Corona Virus (MERSCoV) have been reported in Arabian peninsula and sporadic cases in Europe and Asia. This study was conducted to evaluate the genetic analysis of this virus in human and camel at the first time in Iraq. Two hundred samples were collected from camels and human who suffering from respiratory symptoms, these samples treated with RNA extraction kit then amplification the genetic material by PCR which give 5% positive results. The amplicon then sequenced, registration in gene bank of NCBI for getting accession numbers. The local strains give close relationship with neighbor countries as Saudi Arabia and Jordan strains when using MEGA analysis software.

8.
Int Orthod ; 16(2): 314-327, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29673688

RESUMO

AIM: The aim of the study was to assess the reliability and validity of cephalometric variables from MicroScribe-3DXL. MATERIALS AND METHODS: Seven cephalometric variables (facial angle, ANB, maxillary depth, U1/FH, FMA, IMPA, FMIA) were measured by a dentist in 60 Malay subjects (30 males and 30 females) with class I occlusion and balanced face. Two standard images were taken for each subject with conventional cephalometric radiography and MicroScribe-3DXL. All the images were traced and analysed. SPSS version 2.0 was used for statistical analysis with P-value was set at P<0.05. RESULTS: The results revealed a significant statistic difference in four measurements (U1/FH, FMA, IMPA, FMIA) with P-value range (0.00 to 0.03). The difference in the measurements was considered clinically acceptable. The overall reliability of MicroScribe-3DXL was 92.7% and its validity was 91.8%. CONCLUSION: The MicroScribe-3DXL is reliable and valid to most of the cephalometric variables with the advantages of saving time and cost. This is a promising device to assist in diverse areas in dental practice and research.


Assuntos
Cefalometria/métodos , Face/anatomia & histologia , Processamento de Imagem Assistida por Computador/métodos , Imageamento Tridimensional/métodos , Má Oclusão Classe I de Angle/diagnóstico por imagem , Maxila/anatomia & histologia , Adolescente , Adulto , Pontos de Referência Anatômicos/diagnóstico por imagem , Cefalometria/instrumentação , Cefalometria/estatística & dados numéricos , Análise Custo-Benefício , Face/diagnóstico por imagem , Feminino , Humanos , Processamento de Imagem Assistida por Computador/instrumentação , Processamento de Imagem Assistida por Computador/estatística & dados numéricos , Imageamento Tridimensional/instrumentação , Malásia , Masculino , Mandíbula/anatomia & histologia , Maxila/diagnóstico por imagem , Reprodutibilidade dos Testes , Software , Fatores de Tempo , Adulto Jovem
10.
Autops Case Rep ; 7(3): 13-19, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29043205

RESUMO

BRAF protein is a serine/threonine kinase with 766 amino acids. Approximately 15% of human cancers harbor BRAF mutations as well as other BRAF anomalies (amplifications, fusions). Somatic mutations mainly occur in the catalytic kinase domain (CR3), and the predominant mutation is p.V600E which is the substitution of glutamic acid (E) for valine (V) as result of a mutation at codon 600 of the kinase domain. To our knowledge, the vast majority of the cancers have non-germline BRAF mutations. Here we describe a case of a 60-year-old female with a history of hairy cell leukemia (HCL) who presented with aphasia and forgetfulness. A follow-up Brain CT scan showed three distinct brain lesions which were found to be diagnostic of melanoma (confirmed by immunohistochemistry) with no evidence of a concurrent brain involvement by a B-cell neoplasm. Molecular studies confirmed the same BRAF p.V600E mutation in both malignancies (hairy cell leukemia and melanoma). Thereafter the patient was started on BRAF inhibitor treatment and is now symptom-free after one year of follow up. Having two concurrent malignancies with a shared BRAF mutation is extremely rare and makes this an excellent example of a genomic marker-driven treatment in two histologically and immunophenotypically distinct tumors.

11.
Autops. Case Rep ; 7(3): 13-19, July.-Sept. 2017. ilus
Artigo em Inglês | LILACS | ID: biblio-905311

RESUMO

BRAF protein is a serine/threonine kinase with 766 amino acids. Approximately 15% of human cancers harbor BRAF mutations as well as other BRAF anomalies (amplifications, fusions). Somatic mutations mainly occur in the catalytic kinase domain (CR3), and the predominant mutation is p.V600E which is the substitution of glutamic acid (E) for valine (V) as result of a mutation at codon 600 of the kinase domain. To our knowledge, the vast majority of the cancers have non-germline BRAF mutations. Here we describe a case of a 60-year-old female with a history of hairy cell leukemia (HCL) who presented with aphasia and forgetfulness. A follow-up Brain CT scan showed three distinct brain lesions which were found to be diagnostic of melanoma (confirmed by immunohistochemistry) with no evidence of a concurrent brain involvement by a B-cell neoplasm. Molecular studies confirmed the same BRAF p.V600E mutation in both malignancies (hairy cell leukemia and melanoma). Thereafter the patient was started on BRAF inhibitor treatment and is now symptom-free after one year of follow up. Having two concurrent malignancies with a shared BRAF mutation is extremely rare and makes this an excellent example of a genomic marker-driven treatment in two histologically and immunophenotypically distinct tumors.


Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Leucemia de Células Pilosas/tratamento farmacológico , Melanoma/tratamento farmacológico , Proteínas Proto-Oncogênicas B-raf/uso terapêutico , Encéfalo/patologia , Proteínas Proto-Oncogênicas B-raf/antagonistas & inibidores
12.
Clin Case Rep ; 5(6): 1013-1017, 2017 06.
Artigo em Inglês | MEDLINE | ID: mdl-28588858

RESUMO

15q deletions have been described in association with intellectual disability and autism spectrum disorder (ASD). Previous reports have supported the role of 15q24 low copy repeats (LCRs) in mediating alternatively sized genomic rearrangements. Based on our reported finding of a 15q24 deletion coinciding with two LCR regions in a patient with epilepsy and ASD, we recommend that patients with 15q24 deletions be evaluated for ASD for early institution of therapy.

13.
Neurol Sci ; 38(8): 1505-1508, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28478496

RESUMO

The study aimed to evaluate safety and efficacy of shifting stimulation settings from constant-voltage (CV) to constant-current (CC) programming in patients with Parkinson's disease (PD) and chronic subthalamic nucleus deep brain stimulation (STN DBS). Twenty PD patients with chronic STN DBS set in CV programming were shifted to CC and followed for 3 months; the other stimulation settings and the medication regimen remained unchanged. Side effects, motor, non-motor, executive functions, and impedance were assessed at baseline and during follow-up. No adverse events were observed at time of shifting or during CC stimulation. Motor and non-motor measures remained unchanged at follow-up despite impedance decreased. Compared to baseline, inhibition processes improved at follow-up. The shifting strategy was well tolerated and the clinical outcome was maintained with no need to adjust stimulation settings or medications notwithstanding a decrease of impedance. Improvement of inhibition processes is a finding which needed further investigation.


Assuntos
Estimulação Encefálica Profunda/métodos , Doença de Parkinson/terapia , Feminino , Seguimentos , Humanos , Inibição Psicológica , Masculino , Testes Neuropsicológicos , Estudos Prospectivos , Estatísticas não Paramétricas , Núcleo Subtalâmico/fisiologia
14.
Acta Diabetol ; 54(5): 499-507, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28238190

RESUMO

AIMS: The anti-inflammatory effects of the polyphenol resveratrol in patients with type 2 diabetes mellitus (T2DM) are controversial. Its role on pentraxin 3 (PTX3) concentrations, a human acute phase protein, has never been evaluated. Our aim was to determine whether a two-dosage resveratrol supplementation (500 and 40 mg/day) has an impact on PTX3 values in T2DM patients from a double-blind randomized placebo-controlled trial. Variations in total antioxidant status (TAS) were evaluated too. METHODS: A total of 192 T2DM patients were randomized to receive resveratrol 500 mg/day (Resv 500 arm), resveratrol 40 mg/day (Resv 40 arm) or placebo for 6 months. At baseline and at the trial end, PTX3 and TAS values were determined. RESULTS: A dose-dependent increase in PTX3 concentrations of 4.7% (Resv 40 arm) and 26.3% (Resv 500 arm), and 8.0% reduction after placebo were found. Adjusted mean differences of change versus placebo were 0.16 (95% CI 0.01-0.32) and 0.25 (0.09-0.42) in the Resv 40 and Resv 500 arms, respectively. At subgroup analyses, lower diabetes duration, aspirin, alcohol use, younger age, female gender, smoking (Resv 500 arm) and female gender and aspirin use (Resv 40 arm) were associated with higher PTX3 increments. A dose-dependent increment in TAS values in the resveratrol arms (1.4 and 6.4% for Resv 40 and Resv 500, respectively), and a reduction in placebo arm (-8.9%) were observed. Adjusted mean differences of change were 28.5 (95% CI 10.1-46.8) and 44.8 (25.4-64.1) in the Resv 40 and Resv 500 arms, respectively. CONCLUSION: Resveratrol supplementation increased PTX3 and TAS levels in a dose-dependent manner in T2DM patients. At present, potential clinical implications of these results remain unclear. CLINICALTRIALS. GOV IDENTIFIER: NCT02244879.


Assuntos
Antioxidantes/administração & dosagem , Proteína C-Reativa/metabolismo , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/tratamento farmacológico , Componente Amiloide P Sérico/metabolismo , Estilbenos/administração & dosagem , Adulto , Idoso , Diabetes Mellitus Tipo 2/diagnóstico , Relação Dose-Resposta a Droga , Método Duplo-Cego , Esquema de Medicação , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Resveratrol , Resultado do Tratamento
15.
Pharmacol Res ; 111: 896-905, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27520400

RESUMO

The polyphenol resveratrol is considered to exert many beneficial actions, such as antioxidant, anti-inflammatory, insulin-sensitizer and anticancer effects. Its benefits in patients with type 2 diabetes mellitus (T2DM) are controversial. Our aims were to determine whether resveratrol supplementation at two different dosages (500 and 40mg/day) for 6 months i) reduced the concentrations of C-reactive-protein (CRP) and ii) ameliorated the metabolic pattern of T2DM patients. In the present double-blind, randomized, placebo-controlled trial, 192 T2DM patients were randomized to receive resveratrol 500mg/day (Resv500arm), resveratrol 40mg/day (Resv40arm) or placebo for 6-months. At baseline and at the trial end, CRP values, anthropometric, metabolic and liver parameters were determined. No serious adverse event occurred. A dose-dependent, though not significant, CRP decrease of 5.6% (Resv40arm) and 15.9% (Resv500arm) was observed vs placebo. We failed to detect significant differences in weight, BMI, waist circumference, and values of arterial blood pressure, fasting glucose, glycated hemoglobin, insulin, C-peptide, free fatty acids, liver transaminases, uric acid, adiponectin, interleukin-6, in both the Resv500 and Resv40 arms vs placebo. Total cholesterol and triglycerides slightly increased in the Resv500arm. Subgroup analyses revealed that lower diabetes duration (in both Resv500 and Resv40arms), and, in the Resv500arm, younger age, aspirin use and being a smoker were associated with a significantly higher CRP reduction vs placebo. The supplementations with 40mg/day or 500mg/day resveratrol did neither reduce CRP concentrations, nor improve the metabolic pattern of T2DM patients.


Assuntos
Diabetes Mellitus Tipo 2/tratamento farmacológico , Suplementos Nutricionais , Estilbenos/administração & dosagem , Biomarcadores/sangue , Proteína C-Reativa/metabolismo , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/fisiopatologia , Suplementos Nutricionais/efeitos adversos , Método Duplo-Cego , Nível de Saúde , Humanos , Mediadores da Inflamação/sangue , Itália , Resveratrol , Estilbenos/efeitos adversos , Fatores de Tempo , Resultado do Tratamento
16.
J Wound Care ; 25(Sup7): S18-S25, 2016 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-29027848

RESUMO

OBJECTIVE: The objective of this prospective, multicentre clinical study is to assess the application of MatriStem MicroMatrix (MSMM) and MatriStem Wound Matrix (MSWM) (porcine urinary bladder derived extracellular matrix) compared with Dermagraft (DG) (human fibroblast-derived dermal substitute) for the management of non-healing diabetic foot ulcers (DFUs). METHOD: A randomised, multicentre study was conducted at thirteen centers throughout the US. It was designed to evaluate the incidence of ulcer closure, rate of ulcer healing, wound characteristics, patient quality of life, cost-effectiveness, and recurrence. Those subjects whose DFUs decreased in size by ≤30% or increased by ≤50% during the standard of care (SOC) phase were randomised into the treatment phase of the study. The study evaluated complete wound closure by eight weeks with weekly device application. A two-week post treatment SOC phase followed the treatment phase for any wounds that did not heal by the end of eight weeks, and wound closure was also evaluated at the end of that period. Ulcer recurrence at 6 months post-treatment was evaluated in the subjects that showed wound healing by the end of the post-treatment SOC phase. Standard adjunctive therapy, including debridement, saline irrigation and foot off-loading, was provided to both arms during the four-week screening period, after which eligible subjects were randomised in a 1:1 ratio, to either the MatriStem (MS) or DG treatment arm. This study was developed to evaluate the hypothesis that the wound outcomes observed after wound management with MS were non-inferior to those of DG after eight weeks. The authors present the planned interim results of this study after one half of the projected enrolment was completed. RESULTS: There were 95 subjects consented and entered into the SOC four-week screening phase of the trial and 56 were randomised into the treatment phase. At the planned interim analysis, there was a significantly lower cost per subject and significant improvement in patient quality of life for the subjects treated with MS compared with those managed with DG. However, there was not a statistically significant difference found during the analysis of the interim data between the two study groups for rate of wound healing or number of subjects with complete wound closure. CONCLUSION: The data from this interim analysis show that MSMM and MSWM provide results for healing DFUs that are similar to the results obtained for DG at a significant quality of life and economic advantage. DECLARATION OF INTEREST: The opinions expressed are those of the authors and not necessarily those of the Department of Veterans Affairs or the United States Government. T.W. Gilbert is employed as the Chief Science Officer and is a stockholder in ACell, Inc., which commercializes MatriStem Wound Matrix and MicroMatrix. None of the other authors have a conflict of interest to declare.


Assuntos
Pé Diabético/terapia , Engenharia Tecidual , Cicatrização/fisiologia , Animais , Humanos , Estudos Prospectivos , Qualidade de Vida , Pele Artificial , Suínos
17.
Case Rep Hematol ; 2015: 318545, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26798525

RESUMO

Most myelodysplastic syndromes (MDS) present with loss or gain of chromosomal material and less commonly show translocations as a sole abnormality. In addition, certain translocations are more commonly seen in MDS than others, but to our knowledge, the presence of t(6;15) has not been reported in MDS, specifically therapy-related MDS (t-MDS) cases. Patients with t-MDS, a group of heterogeneous stem cell related disorders resulting as a latent complication of cytotoxic and/or radiation therapy, generally tend to have a poorer prognosis than de novo MDS. We present a unique case of a patient who initially presented with acute myeloid leukemia (AML) with a normal karyotype and FLT3-ITD and NPM1 mutations. The patient was successfully treated with chemotherapy and an autologous bone marrow transplant but subsequently developed a new FLT3-ITD negative t-MDS with a unique translocation, t(6;15)(q12;q15), three years after transplant. To our knowledge, this unique sole translocation has never been reported in MDS or t-MDS and given her successful response to treatment and remission, presence of this translocation may have some prognostic value.

18.
Biomed Res Int ; 2014: 724718, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25215291

RESUMO

Epidemiologic evidence has demonstrated significant associations between atherosclerosis and Porphyromonas gingivalis (Pg). We had investigated the effect of andrographolide (AND) on atherosclerosis induced by Pg in rabbits. For experimental purpose, we separated thirty male white New Zealand rabbits into 5 groups. Group 1 received standard food pellets; Groups 2-5 were orally challenged with Pg; Group 3 received atorvastatin (AV, 5 mg/kg), and Groups 4-5 received 10 and 20 mg/kg of AND, respectively, over 12 weeks. Groups treated with AND showed significant decrease in TC, TG, and LDL levels (P<0.05) and significant increase in HDL level in the serum of rabbits. Furthermore, the treated groups (G3-G5) exhibited reductions in interleukins (IL-1ß and IL-6) and C-reactive protein (CRP) as compared to atherogenicgroup (G2). The histological results showed that the thickening of atherosclerotic plaques were less significant in treated groups (G3-G5) compared with atherogenicgroup (G2). Also, alpha-smooth muscle actin (α-SMA) staining decreased within the plaques of atherogenicgroup (G2), while it was increased in treated groups (G3-G5). Lastly, groups treated with AV and AND (G3-G5) showed significant reduction of CD36 expression (P<0.05) compared to atherogenicgroup (G2). These results substantially proved that AND contain antiatherogenic activity.


Assuntos
Anti-Inflamatórios , Aterosclerose , Infecções por Bacteroidaceae , Diterpenos , Porphyromonas gingivalis , Animais , Anti-Inflamatórios/administração & dosagem , Anti-Inflamatórios/farmacologia , Anti-Inflamatórios/toxicidade , Anticolesterolemiantes/administração & dosagem , Anticolesterolemiantes/farmacologia , Anticolesterolemiantes/toxicidade , Aterosclerose/metabolismo , Aterosclerose/microbiologia , Aterosclerose/patologia , Atorvastatina , Infecções por Bacteroidaceae/metabolismo , Infecções por Bacteroidaceae/microbiologia , Infecções por Bacteroidaceae/patologia , Proteína C-Reativa/análise , Citocinas/sangue , Diterpenos/administração & dosagem , Diterpenos/farmacologia , Diterpenos/toxicidade , Feminino , Ácidos Heptanoicos/administração & dosagem , Ácidos Heptanoicos/farmacologia , Ácidos Heptanoicos/toxicidade , Lipídeos/sangue , Masculino , Músculo Liso/efeitos dos fármacos , Pirróis/administração & dosagem , Pirróis/farmacologia , Pirróis/toxicidade , Coelhos , Túnica Íntima/efeitos dos fármacos
20.
Infection ; 36(3): 231-6, 2008 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-18463787

RESUMO

INTRODUCTION: Highly active antiretroviral therapy (HAART) has deeply modified HIV/AIDS related morbidity and mortality. However, bacterial community acquired pneumonia (BCAP) still represents one of the most frequent causes of morbidity in HIV-infected patients with an inpatient 10% mortality rate. OBJECTIVES: We retrospectively studied the characteristics of BCAP in consecutive HIV-infected inpatients hospitalized from 1999 to 2004 and evaluated the presence of risk factors and the influence of combination antiretroviral therapy receipt on BCAP outcomes. RESULTS: We studied 84 BCAP episodes in 76 HIV-infected inpatients (63 males and 13 females) aged 27-80 years. Thirty-two (42.1%) patients were receiving combination antiretroviral treatment (CART) while 44 (57.9%) were not treated (NART). BCAP incidence progressively increased from 1999 to 2004. The overall percentage of injection drug users was >84%, of smokers >88% and alcohol abusers >32% with no statistical difference between CART and NART. Streptococcus pneumoniae was the most frequently identified pathogen (60%). Time to clinical stability was significantly longer in NART in respect of CART (p=0.011). In multivariate analysis, CDC stage C, CD4 cell count <100 x 10(6) cells/l, and S. pneumoniae etiology were predictors for time to clinical stability >7 days, while receipt of antiretroviral therapy was protective. The percentage of deaths did not differ between CART and NART; most patients had a CD4 count <200 x 10(6) cells/l or severe concomitant diseases. CONCLUSIONS: The incidence of BCAP was high in HIV-infected inpatients observed in the present study mainly due to HIV infection itself, IVDU, alcohol abuse and smoking habit. A longer time to clinical stability was associated with advanced HIV infection and with S. pneumoniae etiology, while receipt of antiretroviral therapy was protective. Injection drug abuse treatment, alcohol abuse and smoking cessation programs, antiretroviral treatment adherence support and pneumococcal vaccination should be implemented to reduce the incidence and to improve the outcomes of BCAP in HIV-infected patients.


Assuntos
Infecções Oportunistas Relacionadas com a AIDS , Terapia Antirretroviral de Alta Atividade , Infecções Comunitárias Adquiridas , Infecções por HIV/complicações , Pneumonia Bacteriana , Infecções Oportunistas Relacionadas com a AIDS/epidemiologia , Infecções Oportunistas Relacionadas com a AIDS/microbiologia , Infecções Oportunistas Relacionadas com a AIDS/mortalidade , Adulto , Idoso , Idoso de 80 Anos ou mais , Infecções Comunitárias Adquiridas/complicações , Infecções Comunitárias Adquiridas/epidemiologia , Infecções Comunitárias Adquiridas/microbiologia , Infecções Comunitárias Adquiridas/mortalidade , Feminino , Infecções por HIV/tratamento farmacológico , Infecções por HIV/epidemiologia , Infecções por HIV/virologia , HIV-1/efeitos dos fármacos , Humanos , Incidência , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Pneumonia Bacteriana/complicações , Pneumonia Bacteriana/epidemiologia , Pneumonia Bacteriana/microbiologia , Pneumonia Bacteriana/mortalidade , Fatores de Risco , Resultado do Tratamento
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