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1.
Eur Arch Otorhinolaryngol ; 280(3): 1339-1342, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36169723

RESUMO

Pharyngoplasty represents one of the most widely performed surgical procedures for the treatment of obstructive sleep apnea (OSA) in the presence of palate-oropharyngeal collapse. The learning curve for pharyngoplasties is steep and success is conditional on the correct use of the sutures and the careful application of the surgical steps in a narrow surgical field. The use of synthetic models may be conveniently and safely employed for hands-on surgical practice in pharyngoplasties, especially when fresh frozen cadaveric specimens are not available. We present the "Pharyngolab", a new simulator for pharyngoplasties.


Assuntos
Faringe , Procedimentos de Cirurgia Plástica , Humanos , Resultado do Tratamento , Faringe/cirurgia , Orofaringe/cirurgia , Palato/cirurgia
2.
Int J Mol Sci ; 24(22)2023 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-38003562

RESUMO

Acquired hemophilia A (AHA) is a rare bleeding disorder caused by the presence of autoantibodies against factor VIII (FVIII). As with other autoimmune diseases, its etiology is complex and its genetic basis is unknown. The aim of this study was to identify the immunogenetic background that predisposes individuals to AHA. HLA and KIR gene clusters, as well as KLRK1, were sequenced using next-generation sequencing in 49 AHA patients. Associations between candidate genes involved in innate and adaptive immune responses and AHA were addressed by comparing the alleles, genotypes, haplotypes, and gene frequencies in the AHA cohort with those in the donors' samples or Spanish population cohort. Two genes of the HLA cluster, as well as rs1049174 in KLRK1, which tags the natural killer (NK) cytotoxic activity haplotype, were found to be linked to AHA. Specifically, A*03:01 (p = 0.024; odds ratio (OR) = 0.26[0.06-0.85]) and DRB1*13:03 (p = 6.8 × 103, OR = 7.56[1.64-51.40]), as well as rs1049174 (p = 0.012), were significantly associated with AHA. In addition, two AHA patients were found to carry one copy each of the low-frequency allele DQB1*03:09 (nallele = 2, 2.04%), which was completely absent in the donors. To the best of our knowledge, this is the first time that the involvement of these specific alleles in the predisposition to AHA has been proposed. Further molecular and functional studies will be needed to unravel their specific contributions. We believe our findings expand the current knowledge on the genetic factors involved in susceptibility to AHA, which will contribute to improving the diagnosis and prognosis of AHA patients.


Assuntos
Hemofilia A , Humanos , Hemofilia A/genética , Genótipo , Haplótipos/genética , Alelos , Frequência do Gene , Sequenciamento de Nucleotídeos em Larga Escala , Sistema Imunitário , Predisposição Genética para Doença
3.
Nutr Neurosci ; 25(12): 2627-2637, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34789070

RESUMO

Deregulations like the loss of sensitivity to insulin (insulin resistance) and chronic inflammation are alterations very commonly found in sporadic forms of neurodegenerative pathologies. Thus, finding strategies to protect against them, may lead to a reduction in the incidence and/or affectation of these pathologies. The grape seed-derived proanthocyanidins extract (GSPE) is a mixture of compounds highly enriched in polyphenols and flavonoids that have shown to have a wide range of therapeutic benefits due to their antioxidant and anti-inflammatory properties. OBJECTIVES: This study aimed to assess the protective effects of a short pre-treatment of GSPE in the hippocampus against a prolonged feeding with cafeteria diet. METHODS: GSPE was administered for 10 days followed by 12 weeks of cafeteria diet. We analyzed transcriptional activity of genes and protein expression of key mediators of neurodegeneration in brain samples. RESULTS: Results indicated that GSPE was able to protect against cellular damage through the activation of AKT, as well as promote the maintenance of mitochondrial function by conserving the OXPHOS complexes and upregulating the antioxidant SOD. DISCUSSION: We observed that GSPE decreased inflammatory activation as observed through the downregulation of JNK, IL6 and TNFα, just like the reduction in reactive profile of astrocytes. Overall, the data presented here offers an interesting and hopeful initial step for future long-term studies on the beneficial effects of a supplementation of common diets with polyphenol and flavonoid substances for the amelioration of typical early hallmarks of neurodegeneration.


Assuntos
Proantocianidinas , Ratos , Animais , Proantocianidinas/farmacologia , Antioxidantes/farmacologia , Ratos Wistar , Dieta , Polifenóis/farmacologia , Hipocampo , Mitocôndrias
4.
Actas Esp Psiquiatr ; 49(4): 194-195, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34195973

RESUMO

Covid-19 disease has been linked to a high risk of hyper- coagulability that can severely condition the evolution of this respiratory syndrome in the acute phase; and also due to the possible sequelae of a chronic thrombosis, as is the case of chronic pulmonary thromboembolism; or due to complications associated with anticoagulant treatment such as bleeding.


Assuntos
COVID-19/complicações , SARS-CoV-2 , Esquizofrenia/complicações , Esquizofrenia/mortalidade , Trombofilia/complicações , Humanos
5.
Int J Mol Sci ; 19(2)2018 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-29470411

RESUMO

Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) caused by mutations in CACNA1A (encoding CaV2.1 channel). The underlying pathomechanisms are unknown. We analyze clinical variables to detect risk factors for SLE in a series of 43 PMM2-CDG patients. We explore the hypothesis of abnormal CaV2.1 function due to aberrant N-glycosylation as a potential novel pathomechanism of SLE and ataxia in PMM2-CDG by using whole-cell patch-clamp, N-glycosylation blockade and mutagenesis. Nine SLE were identified. Neuroimages showed no signs of stroke. Comparison of characteristics between SLE positive versus negative patients' group showed no differences. Acute and chronic phenotypes of patients with PMM2-CDG or CACNA1A channelopathies show similarities. Hypoglycosylation of both CaV2.1 subunits (α1A and α2α) induced gain-of-function effects on channel gating that mirrored those reported for pathogenic CACNA1A mutations linked to FHM and ataxia. Unoccupied N-glycosylation site N283 at α1A contributes to a gain-of-function by lessening CaV2.1 inactivation. Hypoglycosylation of the α2δ subunit also participates in the gain-of-function effect by promoting voltage-dependent opening of the CaV2.1 channel. CaV2.1 hypoglycosylation may cause ataxia and SLEs in PMM2-CDG patients. Aberrant CaV2.1 N-glycosylation as a novel pathomechanism in PMM2-CDG opens new therapeutic possibilities.


Assuntos
Doenças Cerebelares/complicações , Canalopatias/complicações , Fosfotransferases (Fosfomutases)/deficiência , Acidente Vascular Cerebral/complicações , Adolescente , Sequência de Aminoácidos , Canais de Cálcio/genética , Doenças Cerebelares/diagnóstico por imagem , Canalopatias/diagnóstico por imagem , Criança , Pré-Escolar , Eletroencefalografia , Feminino , Glicosilação , Células HEK293 , Humanos , Ativação do Canal Iônico/efeitos dos fármacos , Imageamento por Ressonância Magnética , Masculino , Mutação/genética , Fosfotransferases (Fosfomutases)/química , Fosfotransferases (Fosfomutases)/metabolismo , Acidente Vascular Cerebral/diagnóstico por imagem , Tunicamicina/farmacologia
7.
Nutrients ; 16(7)2024 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-38612989

RESUMO

Insulin resistance (IR)-related miRNAs have been associated with the development and progression of Alzheimer's disease (AD). The dietary modulation of these miRNAs could become a potential strategy to manage AD. The aim of this study was to evaluate the effect of a high-fat diet (HFD), which aggravates AD-related pathogenic processes, on serum, cortex and hippocampus IR-related miRNA expression. C57BL/6J WT and APPSwe/PS1dE9 mice were fed either an HFD or a conventional diet till 6 months of age. The mice fed with the HFD showed a significant increase in body weight and worsening glucose and insulin metabolism. miR-19a-3p was found to be up-regulated in the cortex, hippocampus and serum of APP/PS1 mice and in the serum and hippocampus of WT mice fed with the HFD. miR-34a-5p and miR-146a-5p were up-regulated in the serum of both groups of mice after consuming the HFD. Serum miR-29c-3p was overexpressed after consuming the HFD, along with hippocampal miR-338-3p and miR-125b-5p, only in WT mice. The HFD modulated the expression of peripheral and brain miRNAs related to glucose and insulin metabolism, suggesting the potential role of these miRNAs not only as therapeutic targets of AD but also as peripheral biomarkers for monitoring AD.


Assuntos
Doença de Alzheimer , Resistência à Insulina , MicroRNAs , Animais , Camundongos , Insulina , Camundongos Endogâmicos C57BL , Dieta Hiperlipídica/efeitos adversos , Doença de Alzheimer/genética , Encéfalo , Glucose , MicroRNAs/genética
8.
Foot Ankle Int ; 34(8): 1152-7, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23524860

RESUMO

BACKGROUND: The purpose of this study was to evaluate the clinical and radiological results in a group of patients who underwent first metatarsophalangeal joint arthrodesis with an endomedullary screw fixation technique (MPA-E). METHODS: Between 2003 and 2009, 101 metatarsophalangeal arthrodesis were performed in 76 patients. There were 64 women and 12 men with an average age of 68 years. The indication for surgery was osteoarthritis with severe pain and functional limitation. Patients were evaluated radiologically and with the American Orthopaedic Foot & Ankle Society scoring system (AOFAS) at an average follow-up of 32 months (range, 24-92 months). RESULTS: The success rate was 93%, with an increase of the average preoperative AOFAS from 38.5 points to 85.5 points postoperatively (P < .0001). The consolidation rate after radiological evaluation was 90.1%; there were 5 cases (5.0%) with asymptomatic nonunion and 5 cases (5.0%) with poor results because of symptomatic nonunion. Screw removal was needed in 4 feet (4.0%), and 2 feet (2.0%) had acute postoperative superficial infection. No implant cutout was observed. CONCLUSION: The MPA-E technique provided consistent and high functional outcomes. This valid and effective alternative should be considered as an option for hallux metatarsophalangeal arthrodesis. LEVEL OF EVIDENCE: Level IV, retrospective case series.


Assuntos
Artrodese/métodos , Parafusos Ósseos , Hallux/cirurgia , Articulação Metatarsofalângica/cirurgia , Idoso , Estudos de Coortes , Feminino , Hallux Rigidus/cirurgia , Hallux Valgus/cirurgia , Humanos , Masculino , Articulação Metatarsofalângica/diagnóstico por imagem , Osteoartrite/cirurgia , Complicações Pós-Operatórias , Radiografia , Estudos Retrospectivos , Resultado do Tratamento
9.
Biomed Pharmacother ; 155: 113709, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36126456

RESUMO

Protein tyrosine phosphatase 1B (PTP1B) is a typical member of the PTP family, considered a direct negative regulator of several receptor and receptor-associated tyrosine kinases. This widely localized enzyme has been involved in the pathophysiology of several diseases. More recently, PTP1B has attracted attention in the field of neuroscience, since its activation in brain cells can lead to schizophrenia-like behaviour deficits, anxiety-like effects, neurodegeneration, neuroinflammation and depression. Conversely, PTP1B inhibition has been shown to prevent microglial activation, thus exerting a potent anti-inflammatory effect and has also shown potential to increase the cognitive process through the stimulation of hippocampal insulin, leptin and BDNF/TrkB receptors. Notwithstanding, most research on the clinical efficacy of targeting PTP1B has been developed in the field of obesity and type 2 diabetes mellitus (TD2M). However, despite the link existing between these metabolic alterations and neurodegeneration, no clinical trials assessing the neurological advantages of PTP1B inhibition have been performed yet. Preclinical studies, though, have provided strong evidence that targeting PTP1B could allow to reach different pathophysiological mechanisms at once. herefore, specific interventions or trials should be designed to modulate PTP1B activity in brain, since it is a promising strategy to decelerate or prevent neurodegeneration in aged individuals, among other neurological diseases. The present paper fails to include all neurological conditions in which PTP1B could have a role; instead, it focuses on those which have been related to metabolic alterations and neurodegenerative processes. Moreover, only preclinical data is discussed, since clinical studies on the potential of PTP1B inhibition for treating neurological diseases are still required.


Assuntos
Diabetes Mellitus Tipo 2 , Doenças do Sistema Nervoso , Humanos , Idoso , Proteína Tirosina Fosfatase não Receptora Tipo 1 , Leptina , Diabetes Mellitus Tipo 2/tratamento farmacológico , Fator Neurotrófico Derivado do Encéfalo , Insulina/uso terapêutico , Doenças do Sistema Nervoso/tratamento farmacológico , Anti-Inflamatórios/uso terapêutico , Tirosina , Inibidores Enzimáticos/farmacologia
10.
Front Biosci (Landmark Ed) ; 27(5): 146, 2022 05 06.
Artigo em Inglês | MEDLINE | ID: mdl-35638413

RESUMO

The increases in population ageing and growth are leading to a boosting in the number of people living with dementia, Alzheimer's disease (AD) being the most common cause. In spite of decades of intensive research, no cure for AD has been found yet. However, some treatments that may change disease progression and help control symptoms have been proposed. Beyond the classical hypotheses of AD etiopathogenesis, i.e., amyloid beta peptide (Aß) accumulation and tau hyperphosphorylation, a trend in attributing a key role to other molecular mechanisms is prompting the study of different therapeutic targets. Hence, drugs designed to modulate inflammation, insulin resistance, synapses, neurogenesis, cardiovascular factors and dysbiosis are shaping a new horizon in AD treatment. Within this frame, an increase in the number of candidate drugs for disease modification treatments is expected, as well as a focus on potential combinatory multidrug strategies.The present review summarizes the latest advances in drugs targeting Aß and tau as major contributors to AD pathophysiology. In addition, it introduces the most important drugs in clinical studies targeting alternative mechanisms thought to be involved in AD's neurodegenerative process.


Assuntos
Doença de Alzheimer , Doença de Alzheimer/tratamento farmacológico , Peptídeos beta-Amiloides , Progressão da Doença , Humanos
11.
Microorganisms ; 10(11)2022 Nov 14.
Artigo em Inglês | MEDLINE | ID: mdl-36422326

RESUMO

The emergence of drug-resistant strains of the parasite Leishmania infantum infecting dogs and humans represents an increasing threat. L. infantum genomes are complex and unstable with extensive structural variations, ranging from aneuploidies to multiple copy number variations (CNVs). These CNVs have recently been validated as biomarkers of Leishmania concerning virulence, tissue tropism, and drug resistance. As a proof-of-concept to develop a novel diagnosis platform (LeishGenApp), four L. infantum samples from humans and dogs were nanopore sequenced. Samples were epidemiologically typed within the Mediterranean L. infantum group, identifying members of the JCP5 and non-JCP5 subgroups, using the conserved region (CR) of the maxicircle kinetoplast. Aneuploidies were frequent and heterogenous between samples, yet only chromosome 31 tetrasomy was common between all the samples. A high frequency of aneuploidies was observed for samples with long passage history (MHOM/TN/80/IPT-1), whereas fewer were detected for samples maintained in vivo (MCRI/ES/2006/CATB033). Twenty-two genes were studied to generate a genetic pharmacoresistance profile against miltefosine, allopurinol, trivalent antimonials, amphotericin, and paromomycin. MHOM/TN/80/IPT-1 and MCRI/ES/2006/CATB033 displayed a genetic profile with potential resistance against miltefosine and allopurinol. Meanwhile, MHOM/ES/2016/CATB101 and LCAN/ES/2020/CATB102 were identified as potentially resistant against paromomycin. All four samples displayed a genetic profile for resistance against trivalent antimonials. Overall, this proof-of-concept revealed the potential of nanopore sequencing and LeishGenApp for the determination of epidemiological, drug resistance, and pathogenicity biomarkers in L. infantum.

12.
Clin Appl Thromb Hemost ; 28: 10760296221074348, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35108125

RESUMO

OBJECTIVE: To evaluate the efficacy and safety of a plasma-derived factor VIII concentrate containing von Willebrand Factor (pdVWF/FVIII) in standard clinical practice in von Willebrand Disease (VWD) patients. METHODS: A retrospective, multicentric, observational study of VWD patients treated with Fanhdi®, a pdVWF/FVIII concentrate, from January 2011 to December 2017 was conducted at 14 centers in Spain. Efficacy and safety were evaluated for acute bleeding episodes, for prevention of bleeding in surgeries, and for secondary long-term prophylaxis. RESULTS: Seventy-two eligible patients, type 1, 2, 3 VWD (25%/38.9%/36.1%) were treated for spontaneous and traumatic bleeding (140 episodes, n = 41 patients), to prevent surgical bleeding (69 episodes, n = 43 patients); and for secondary long-term prophylaxis (18 programs, n = 13 patients). Replacement therapy with pdVWF/FVIII showed an excellent to good clinical efficacy in 96.7% of the bleeding episodes, 100% during surgical procedures and 100% during prophylaxis. No adverse events (AEs), nor serious AEs related to the product were observed. CONCLUSIONS: Fanhdi® was effective, safe and well tolerated in the management of bleeding episodes, the prevention of bleeding during surgeries, and for secondary long-term prophylaxis in VWD patients.


Assuntos
Fator VIII/uso terapêutico , Hemorragia/tratamento farmacológico , Hemorragia/etiologia , Hemostáticos/uso terapêutico , Doenças de von Willebrand/complicações , Fator de von Willebrand/uso terapêutico , Adolescente , Adulto , Idoso , Perda Sanguínea Cirúrgica/prevenção & controle , Criança , Combinação de Medicamentos , Fator VIII/administração & dosagem , Feminino , Hemostáticos/administração & dosagem , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Espanha , Adulto Jovem , Fator de von Willebrand/administração & dosagem
13.
Blood Coagul Fibrinolysis ; 32(2): 122-131, 2021 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-33337623

RESUMO

The aim of the study was to determine whether platelet hyperaggregability correlates with short closure times (PFA-100) and if hyperaggregability is associated with the risk of venous thrombosis in a Spanish population. Case--control study (RETROVE project) involving 400 patients with venous thrombosis and 400 healthy controls. We determined platelet aggregation in platelet-rich plasma (PRP) by light transmission aggregometry. Various concentrations of two aggregation agonists [ADP and epinephrine (EPI)] were tested to determine the percentage of maximal aggregation and the percentage area under the curve (AUC). Venous thrombosis risk associated with platelet hyperaggregability was calculated by logistic regression. We estimated the crude and adjusted (by sex and age) odds ratios (OR) for venous thrombosis risk. An agonist concentration of 0.5 µmol/l differentiated between hypo-responders and hyper-responders at the following AUC cut-off values: EPI: the 50th percentile for aggregation with 0.5 µmol/l of EPI (EPI_AUC) was 22.53% (>22.53% = hyper-EPI); the crude risk for venous thrombosis was statistically significant (OR = 1.37; 95% CI 1.03-1.82); ADP: the 75th percentile for aggregation with 0.5 µmol/l of ADP (ADP_AUC) was 29.6% (>29.6% = hyper-ADP), with a significant crude risk for venous thrombosis (OR = 1.44; 95% CI 1.05-1.98). However, after adjustment for confounders (age), the ORs for EPI or ADP aggregation were no longer significant. EPI_AUC and PFA-100 values with the EPI agonist were significantly correlated (R = -0.342, P < 0.01). Only 12% of the PFA-100 values were explained by platelet aggregation. In this case--control study, platelet hyperaggregability was not associated with the risk of developing venous thrombosis.


Assuntos
Agregação Plaquetária , Trombose Venosa/etiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Plaquetas/citologia , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Testes de Função Plaquetária , Fatores de Risco , Trombose Venosa/sangue
14.
Curr Opin Environ Sci Health ; 24: 100308, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34849439

RESUMO

SARS-CoV-2 variants are emerging worldwide, and monitoring them is key in providing early warnings. Here, we summarize the different analytical approaches currently used to study the dissemination of SARS-CoV-2 variants in wastewater and discuss their advantages and disadvantages. We also provide preliminary results of two sensitive and cost-effective approaches: variant-specific reverse transcription-nested PCR assays and a nonvariant-specific amplicon deep sequencing strategy that targets three key regions of the viral spike protein. Next-generation sequencing approaches enable the simultaneous detection of signature mutations of different variants of concern in a single assay and may be the best option to explore the real picture at a particular time. Targeted PCR approaches focused on specific signature mutations will need continuous updating but are sensitive and cost-effective.

15.
J Clin Med ; 10(9)2021 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-33925376

RESUMO

Study Objectives: Evaluating daytime neuromuscular electrical training (NMES) of tongue muscles in individuals with Primary Snoring and Mild Obstructive Sleep Apnea (OSA). Methods: A multicenter prospective study was undertaken in patients with primary snoring and mild sleep apnea where daytime NMES (eXciteOSA® Signifier Medical Technologies Ltd., London W6 0LG, UK) was used for 20 min once daily for 6 weeks. Change in percentage time spent snoring was analyzed using a two-night sleep study before and after therapy. Participants and their bed partners completed sleep quality questionnaires: Epworth Sleepiness Scale (ESS) and Pittsburgh Sleep Quality Index (PSQI), and the bed partners reported on the nighttime snoring using a Visual Analogue Scale (VAS). Results: Of 125 patients recruited, 115 patients completed the trial. Ninety percent of the study population had some reduction in objective snoring with the mean reduction in the study population of 41% (p < 0.001). Bed partner-reported snoring reduced significantly by 39% (p < 0.001). ESS and total PSQI scores reduced significantly (p < 0.001) as well as bed partner PSQI (p = 0.017). No serious adverse events were reported. Conclusions: Daytime NMES (eXciteOSA®) is demonstrated to be effective at reducing objective and subjective snoring. It is associated with effective improvement in patient and bed partner sleep quality and patient daytime somnolence. Both objective and subjective measures demonstrated a consistent improvement. Daytime NMES was well tolerated and had minimal transient side effects.

16.
Cell Biosci ; 11(1): 141, 2021 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-34294142

RESUMO

BACKGROUND: Several studies stablished a relationship between metabolic disturbances and Alzheimer´s disease (AD) where inflammation plays a pivotal role. However, mechanisms involved still remain unclear. In the present study, we aimed to evaluate central and peripheral effects of dexibuprofen (DXI) in the progression of AD in APPswe/PS1dE9 (APP/PS1) female mice, a familial AD model, fed with high fat diet (HFD). Animals were fed either with conventional chow or with HFD, from their weaning until their sacrifice, at 6 months. Moreover, mice were divided into subgroups to which were administered drinking water or water supplemented with DXI (20 mg kg-1 d-1) for 3 months. Before sacrifice, body weight, intraperitoneal glucose and insulin tolerance test (IP-ITT) were performed to evaluate peripheral parameters and also behavioral tests to determine cognitive decline. Moreover, molecular studies such as Western blot and RT-PCR were carried out in liver to confirm metabolic effects and in hippocampus to analyze several pathways considered hallmarks in AD. RESULTS: Our studies demonstrate that DXI improved metabolic alterations observed in transgenic animals fed with HFD in vivo, data in accordance with those obtained at molecular level. Moreover, an improvement of cognitive decline and neuroinflammation among other alterations associated with AD were observed such as beta-amyloid plaque accumulation and unfolded protein response. CONCLUSIONS: Collectively, evidence suggest that chronic administration of DXI prevents the progression of AD through the regulation of inflammation which contribute to improve hallmarks of this pathology. Thus, this compound could constitute a novel therapeutic approach in the treatment of AD in a combined therapy.

17.
Blood Adv ; 5(19): 3821-3829, 2021 10 12.
Artigo em Inglês | MEDLINE | ID: mdl-34521101

RESUMO

The Spanish Acquired Hemophilia A (AHA) Registry is intended to update the status of AHA in Spain. One hundred and fifty-four patients were included and retrospectively followed for a median of 12 months. Patients were predominantly male (56.3%), with median age at diagnosis of 74 years. AHA was more frequently idiopathic (44.1%) and autoimmune disorder-associated (31.7%). Thirty-four percent of patients were on antithrombotic therapy at diagnosis. Hemostatic treatment was used in 70% of patients. Recombinant activated factor VII was more frequently infused (60.3% vs 20.6% activated prothrombin complex concentrate). Only 1 patient did not achieve control of hemorrhage. Complete remission (CR) was achieved by 84.2% of cases after immunosuppressive therapy. Steroids alone were less efficient than the other strategies (68.2% vs 87.2%, P = .049), whereas no differences existed among these (steroids/cyclophosphamide, 88.5%, vs steroids/calcineurin inhibitors, 81.2%, vs rituximab-based regimens, 87.5%). Female sex and high inhibitor levels influenced CR negatively. Thirty-six deaths (23.8%) were reported. Main causes of death were infection (15 patients, 9.9%) and hemorrhage (5 patients, 3.3%). All hemorrhage-related and half the infection-related deaths occurred within 2 months of diagnosis. Prior antithrombotic therapy was inversely associated with survival, irrespective of age. Median age of nonsurvivors was significantly higher (79 vs 73 years in survivors). Patients dying of infection were older than the other nonsurvivors (85 vs 78 years). In summary, fatal infection in the first months is common in our series. Antithrombotic therapy is associated with mortality. Particular care should be taken to avoid misdiagnosis.


Assuntos
Hemofilia A , Idoso , Autoanticorpos , Fator VIII , Feminino , Hemofilia A/diagnóstico , Hemofilia A/tratamento farmacológico , Hemofilia A/epidemiologia , Humanos , Masculino , Sistema de Registros , Estudos Retrospectivos
18.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-30616837

RESUMO

In November 2014 the Spanish Society of Otolaryngology, the Spanish Sleep Society and the Spanish Society of Maxillofacial Surgery proposed and endorsed the development of a Clinical Practice Guideline on the physical examination of the upper airway in patients with obstructive sleep apnoea. The Guideline strictly followed the recommendations of the manual for the preparation of clinical practice guidelines of the National Health System 2007 and 2009 and the manual of the Scottish Intercollegiate Guidelines Network (SIGN) 2015. The final document could be highly useful for the purposes that were originally proposed: to act as a reference to unify the regions that should be explored in patients with obstructive sleep apnoea-hypopnoea syndrome, the type of examination and how to grade it, and specific to all the care areas to which these patients have access. The conclusions and recommendations are based on a thorough and up-to-date review of the literature with a high level of evidence, as well as the experience and knowledge demonstrated by all the members of the drafting group. This group was formed bearing in mind at all times the transversality of the project, and, therefore, specialists from all the involved areas participated (maxillofacial surgery, family medicine, pneumology, clinical neurophysiology, odontology and otolaryngology). The external reviewers of the final text were selected along the same lines.


Assuntos
Exame Físico/normas , Apneia Obstrutiva do Sono/diagnóstico , Adulto , Antropometria , Cefalometria , Endoscopia , Feminino , Humanos , Hipnóticos e Sedativos/farmacologia , Masculino , Má Oclusão/complicações , Obstrução Nasal/complicações , Obstrução Nasal/diagnóstico , Nasofaringe/patologia , Nariz/patologia , Exame Físico/métodos , Rinite/complicações , Rinite/diagnóstico , Rinomanometria , Apneia Obstrutiva do Sono/fisiopatologia
19.
Thromb Res ; 181: 99-105, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31382081

RESUMO

INTRODUCTION: Platelet hyper-reactivity has been associated with thrombosis and high levels of human vesicle-associated membrane protein 8 (VAMP8) and serotonin transporter (SERT). Two polymorphisms (rs1010 of VAMP8 gene and in SERT gene (SLC6A4)) are associated with arterial thrombosis. AIM: To determine if levels of serotonin, SERT and/or VAMP8 and these polymorphisms are associated with the risk of venous thrombosis. MATERIAL AND METHODS: A total of 324 individuals were included in the RETROVE Study (Riesgo de Enfermedad TROmboembólica VEnosa). VAMP8, SERT and serotonin were determined by ELISA; polymorphisms of SLC6A4 and VAMP8 by polymerase chain reaction (PCR) and real time PCR. The venous thrombotic risk was calculated by a logistic regression method to estimate the crude and adjusted OR (adjusted for sex, age, body mass index and venous thrombosis risk co-factors). RESULTS: Statistically significant high levels of VAMP8 and SERT were found in patients, but not in controls. In contrast, serotonin showed lower levels in patients than in controls. When individuals were studied by gender, only women exhibited a statistically significant difference: the OR for VAMP8 was 3.25 (1.61-6.56 95% CI). The adjusted OR did not change. The OR for SERT was 2.76 (1.36-5.60 95% CI), the adjusted OR was maintained also. For serotonin with OR of 2.62 (1.40-4.92 95% CI), the adjusted OR was not significant. In contrast males did not show significant differences. No statistically differences between patients and controls were found for both polymorphisms. CONCLUSIONS: VAMP8 and SERT levels are associated with venous thrombosis in a female Spanish population.


Assuntos
Proteínas R-SNARE/metabolismo , Proteínas da Membrana Plasmática de Transporte de Serotonina/metabolismo , Trombose Venosa/metabolismo , Feminino , Humanos , Pessoa de Meia-Idade , Fatores de Risco , Espanha , Trombose Venosa/patologia
20.
Rev Neurol ; 68(12): 503-509, 2019 Jun 16.
Artigo em Espanhol | MEDLINE | ID: mdl-31173330

RESUMO

INTRODUCTION: Late preterm infants currently constitute 70% of preterm infant births. They present greater comorbidity, including neurodevelopment disorders, which may not manifest until the school age. AIM: To identify the existence of difficulties in the neurodevelopment at the age of two years. SUBJECTS AND METHODS: The psychomotor development was performed at two years of age in late preterm infants and term control group born at our center between January and September 2014, with Brunet-Lezine Revised test and Ages and Stages Questionnaires (ASQ-3) questionnaire. RESULTS: 88 children were included. Late preterm infants had lower scores in the language area and postural developmental. Girls achieved better results than males at global developmental age, oculo-motor coordination, language area and sociability. The ASQ-3 questionnaire detected differences in communication and socio-individual. Prematurity and male sex were identified as an independent risk factor to present a developmental disorder, prematurity for language impairment and male sex for younger developmental age and language impairment. The correlation between language assessment with the Brunet-Lezine Revised test and the ASQ-3 questionnaire was good, with a Pearson correlation coefficient of 0.7 (p < 0.001), showing the usefulness of the questionnaire. CONCLUSIONS: Late preterm infants have a lower developmental age in the language area at two years. Prematurity and male sex are risk factors for developmental disorder. Language assessment with the ASQ-3 questionnaire may be a useful tool to detect disorders and intervene early.


TITLE: Desarrollo psicomotor en prematuros tardios a los dos años de edad: comparacion con recien nacidos a termino mediante dos herramientas diferentes.Introduccion. Los prematuros tardios constituyen actualmente el 70% de los nacimientos prematuros. Presentan mayor comorbilidad, incluyendo las alteraciones del neurodesarrollo, que pueden no manifestarse hasta la escolarizacion. Objetivo. Identificar dificultades en el desarrollo neurologico a los dos años de edad. Sujetos y metodos. Se valoro el desarrollo psicomotor a los dos años de los prematuros tardios y del grupo control a termino nacidos en nuestro centro entre enero y septiembre del año 2014 mediante la escala de Brunet-Lezine revisada y el cuestionario de edades y etapas para la deteccion de trastornos del neurodesarrollo Ages and Stages Questionnaires (ASQ-3). Resultados. Se incluyo a 88 niños. Los prematuros tardios presentaron puntuaciones inferiores en el lenguaje y el desarrollo postural. Las niñas obtuvieron resultados superiores en la edad de desarrollo global, la coordinacion oculomotriz, el lenguaje y la sociabilidad. El cuestionario ASQ-3 detecto las diferencias en comunicacion y socioindividuales. Se identificaron como factores de riesgo para presentar alteracion del desarrollo la prematuridad, para alteracion del lenguaje, y el sexo masculino, para menor edad de desarrollo y alteracion del lenguaje. La correlacion entre la valoracion del lenguaje con la escala de Brunet-Lezine revisada y el cuestionario ASQ-3 fue buena, con un coeficiente de correlacion de Pearson de 0,7 (p < 0,001), lo que muestra la utilidad del cuestionario. Conclusiones. Los prematuros tardios presentan menor desarrollo del lenguaje a los dos años. La prematuridad y el sexo masculino son factores de riesgo para presentar alteracion. La valoracion del lenguaje con el cuestionario ASQ-3 puede ser util para detectar alteraciones.


Assuntos
Recém-Nascido Prematuro/crescimento & desenvolvimento , Transtornos do Neurodesenvolvimento/epidemiologia , Desempenho Psicomotor/fisiologia , Pré-Escolar , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Fatores de Risco , Inquéritos e Questionários , Nascimento a Termo
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