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2.
Nutr Neurosci ; 26(6): 525-534, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35499860

RESUMO

INTRODUCTION: Patients with acquired brain injury (ABI) may be at an increased risk of malnutrition due to the pathophysiology of their condition, which can affect their anthropometrical profile and therefore their quality of life. The present study analyzes the anthropometrical profile of these individuals, describes their dietary habits and nutrients intake and identifies the related risk factors influencing health status and quality of life. METHODS: Twenty-three volunteers with ABI from the province of Granada (Spain) were recruited for this cross-sectional study. Nutritional assessment was quantitatively and qualitatively performed using a 72-h dietary record and a food frequency questionnaire, respectively. Body composition parameters were evaluated by bioelectrical impedance. RESULTS: Low intakes of minerals related to bone health, extra virgin olive oil (EVOO) and fruits were reported. Moreover, women presented a poorer anthropometrical profile compared to men. With reference to age, a significant inverse correlation was observed with sarcopenic obesity, appendicular muscle mass index and Vitamin B6 intake [(r = -0.617, p < 0.01), (r = -0.475, p < 0.05) and (r = -0.498, p < 0.05), respectively]. Intake of EVOO was inversely correlated to body mass index (r = -0.767, p < 0.001). Lastly, a direct correlation was observed between the consumption of alcohol and sweets and snacks (r = 0.608, p < 0.01). CONCLUSION: The main findings support the existence of poor dietary quality and anthropometrical profile. Interdisciplinary team assessment would be beneficial to enhance the quality of life and attenuate the development of comorbidities in subjects with ABI.


Assuntos
Lesões Encefálicas , Avaliação Nutricional , Masculino , Humanos , Feminino , Estado Nutricional , Estudos Transversais , Qualidade de Vida
3.
Nutr Neurosci ; : 1-10, 2022 Dec 29.
Artigo em Inglês | MEDLINE | ID: mdl-36579765

RESUMO

Introduction: We aimed to analyze the anthropometric and body composition profiles of Down syndrome (DS) adults; to describe their dietary habits, nutrient intake, and physical activity patterns; and to identify the related risk factors which may influence their health status and quality of life.Methods: A cross-sectional study was conducted on a cohort of 23 DS adults (45% women) aged 21-44 years. Anthropometry and body composition were assessed by bioelectrical impedance. Dietary nutrient intake was assessed quantitatively using a 72-h recall. A food frequency questionnaire and the prevention with Mediterranean diet-PREDIMED questionnaire were used for qualitative rating.Results: Higher fat mass (FM) and lower lean mass (LM), bone mass (BM), and waist to hip ratio (WHR) were observed in women compared to men. LM and BM decreased, and body mass index (BMI), FM, and WHR increased with aging (all P < 0.05). Vitamin D and iodine intakes were not met by 70% and 60% of the studied participants, respectively. A total of 82% of the participants consumed less than 5 portions of fruits and vegetables per day and overconsumed food groups such as sweets and snacks and red meat (> 2 times per week). Protein intake showed a significant positive correlation with height (r = 0.489, P < 0.05), whereas fat intake was positively correlated with sweets and snacks (r = 0.521, P < 0.05).Conclusion: The present findings support the existence of poor anthropometric and body composition profiles, and diet quality, underscoring the need for an interdisciplinary team assessment to enhance health and quality of life in DS adults.

4.
Nutr. hosp ; 39(2): 247-255, mar.- abr. 2022. tab, ilus
Artigo em Inglês | IBECS | ID: ibc-209691

RESUMO

Introduction and objective: a study was made of the folic acid (Fol) and vitamin B12 (B12) serum concentrations in critical patients with septic shock upon admission and after three days of stay in the Intensive Care Unit (ICU), with an analysis of their association to inflammatory parameters and patient morbidity-mortality. Methods: a prospective analytical study was made of 30 critically ill patients with septic shock. Demographic data, comorbidities, clinical information and severity scores were recorded. Data collected included serum Fol and B12 levels using the DxI® Autoanalyzer (Beckman Coulter) based on a competitive electrochemoluminescence immunoassay. Results: mean serum Fol was within the reference range stipulated by the laboratory on the first day. Nevertheless, a total of 21.4 % of the patients had high Fol levels, with 14.2 % being Fol deficient. An association was observed between Fol (p < 0.012) status and 28-day mortality, and the number of days of mechanical ventilation, fraction of inspired oxygen (FiO2) and fibrinogen increased in patients with higher Fol levels (p < 0.05). In addition, 85.7 % of cases had B12 levels above the reference values, with a correlation being observed between B12 and Fol. Conclusions: this study proposes Fol as a novel morbidity-mortality biomarker in critical septic patients, and reinforces the usefulness of B12 as a morbidity biomarker. It is thus suggested that the measurement of Fol upon admission and over the first 72 hours of hospital stay could provide prognostic information about the clinical course and outcome of septic shock patients (AU)


Introducción y objetivo: se realizó un estudio de las concentraciones séricas de ácido fólico (Fol) y vitamina B12 (B12) en pacientes críticos con shock séptico al ingreso y después de tres días de estancia en la Unidad de Cuidados Intensivos (UCI), con un análisis de su asociación con los parámetros inflamatorios y la morbimortalidad de los pacientes. Método: se realizó un estudio analítico prospectivo de 30 pacientes críticos con shock séptico. Se registraron datos demográficos, comorbilidades, información clínica y puntuaciones de gravedad. Los datos recopilados incluyeron los niveles séricos de Fol y B12 utilizando el autoanalizador DxI® (Beckman Coulter) basado en un inmunoensayo de electroquimioluminiscencia competitivo. Resultados: la media de Fol sérico estuvo dentro del rango de referencia estipulado por el laboratorio el primer día. Sin embargo, el 21,4 % de los pacientes presentaban niveles altos de Fol y el 14,2 % presentaban deficiencia de Fol. Se observó una asociación entre el estado de Fol (p < 0,012) con la mortalidad a los 28 días, con el número de días de ventilación mecánica, con la fracción de oxígeno inspirado (FiO2) y con el fibrinógeno, que aumentaron en los pacientes con niveles de Fol más altos (p < 0,05). Además, el 85,7 % de los casos tenían niveles de B12 por encima de los valores de referencia, observándose una correlación entre B12 y Fol. Conclusiones: este estudio propone al Fol como nuevo biomarcador de morbimortalidad en los pacientes críticos con sepsis y refuerza la utilidad de la B12 como biomarcador de morbilidad. Por tanto, se sugiere que la medición de Fol al ingreso y durante las primeras 72 horas de estancia hospitalaria podría proporcionar información pronóstica sobre el curso clínico y el resultado de los pacientes con shock séptico (AU)


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Ácido Fólico/sangue , Vitamina B 12/sangue , Choque Séptico/sangue , Choque Séptico/mortalidade , Unidades de Terapia Intensiva , Estudos Prospectivos , Biomarcadores/sangue
5.
Rev Gastroenterol Mex (Engl Ed) ; 86(4): 328-334, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34518143

RESUMO

INTRODUCTION AND AIMS: The primary aim was to explore the epidemiologic trend of pediatric inflammatory bowel disease in Latin America, and the secondary aims were to obtain an overview of the diagnostic/therapeutic focus of the members of the LASPGHAN and examine the relation of case frequency to year, during the study period. MATERIALS AND METHODS: Latin American pediatric gastroenterologists participated in an online survey, conducted through the SurveyMonkey platform, that investigated the yearly frequency of new inflammatory bowel disease patients within the time frame of 2005-2016, their disease variety, the gastrointestinal segments affected, and the diagnostic and treatment methods utilized. The correlation of new case frequency with each study year was evaluated. RESULTS: A total of 607 patients were studied. The diagnoses were ulcerative colitis in 475 (78.3%) cases, Crohn's disease in 104 (17.1%), and inflammatory bowel disease D unclassified in 28 (4.6%). The trend in ulcerative colitis was a lineal increase in the frequency of new cases related to each study year, with a significant correlation coefficient. Pancolitis was found in 67.6% of the patients. The diagnostic methods included clinical data, endoscopy, and biopsies in more than 99% of the cases, and imaging studies were indicated selectively. Drug regimens were limited to 5-aminosalicylic acid derivatives, azathioprine, 6-mercaptopurine, infliximab, and adalimumab. CONCLUSIONS: Pediatric inflammatory bowel disease in Latin America appears to have increased during the years included in the study period, with a predominance of moderate or severe ulcerative colitis. That lineal trend suggests the predictive likelihood of a gradual increase in the coming years, with possible epidemiologic and clinical implications.


Assuntos
Colite Ulcerativa , Doença de Crohn , Gastroenterologia , Doenças Inflamatórias Intestinais , Criança , Colite Ulcerativa/diagnóstico , Humanos , Doenças Inflamatórias Intestinais/diagnóstico , América Latina/epidemiologia
6.
Am J Ophthalmol Case Rep ; 22: 101100, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33997470

RESUMO

PURPOSE: To describe a case series of scleritis associated with IgA vasculitis (IgAV) at a tertiary referral center. OBSERVATIONS: Three men with scleritis associated with IgAV were identified: one with anterior scleritis alone, one with anterior scleritis and peripheral ulcerative keratitis (sclerokeratitis), and one with anterior and posterior scleritis. Visual acuity was preserved except from the patient who developed posterior scleritis. Ocular pain was the main symptom at presentation. All patients had a previous history of palpable purpura, but only one was aware of his underlying IgAV. Laboratory results revealed microhematuria and proteinuria with normal urinary ß2 microglobulin levels and negative serum ANCAs. Skin or kidney biopsy demonstrated leukocytoclastic vasculitis or glomerulonephritis with dominant IgA immune deposits. CONCLUSIONS AND IMPORTANCE: Although uncommon, IgAV should be included in the differential diagnosis of anterior scleritis alone or associated with peripheral ulcerative keratitis or posterior scleritis, even in systemically asymptomatic patients. Urinalysis should not be underestimated in assessment of scleritis to detect early stages of glomerular disease. Scleritis may be the first manifestation whose study may lead to the diagnosis of IgAV. Multidisciplinary approach is necessary to prevent irreversible organ damage such as renal failure.

7.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-33223251

RESUMO

INTRODUCTION AND OBJECTIVES: The primary aim was to explore the epidemiologic trend of pediatric inflammatory bowel disease in Latin America, and the secondary aims were to obtain an overview of the diagnostic/therapeutic focus of the members of the LASPGHAN and examine the relation of case frequency to year, during the study period. MATERIALS AND METHODS: Latin American pediatric gastroenterologists participated in an online survey, conducted through the SurveyMonkey platform, that investigated the yearly frequency of new inflammatory bowel disease patients within the time frame of 2005 to 2016, their disease variety, the gastrointestinal segments affected, and the diagnostic and treatment methods utilized. The correlation of new case frequency with each study year was evaluated. RESULTS: A total of 607 patients were studied. The diagnoses were ulcerative colitis in 475 (78.3%) cases, Crohn's disease in 104 (17.1%), and inflammatory bowel disease D unclassified in 28 (4.6%). The trend in ulcerative colitis was a lineal increase in the frequency of new cases related to each study year, with a significant correlation coefficient. Pancolitis was found in 67.6% of the patients. The diagnostic methods included clinical data, endoscopy, and biopsies in more than 99% of the cases, and imaging studies were indicated selectively. Drug regimens were limited to 5-aminosalicylic acid derivatives, azathioprine, 6-mercaptopurine, infliximab, and adalimumab. CONCLUSIONS: Pediatric inflammatory bowel disease in Latin America appears to have increased during the years included in the study period, with a predominance of moderate or severe ulcerative colitis. That lineal trend suggests the predictive likelihood of a gradual increase in the coming years, with possible epidemiologic and clinical implications.

8.
Actas Urol Esp (Engl Ed) ; 44(6): 400-407, 2020.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-32475689

RESUMO

INTRODUCTION: The use of biomarkers in the detection of prostate cancer (PC) can decrease overdiagnosis and overtreatment of non-significant PC. We analyze the usefulness and applicability of the SelectMDx® marker in a routine clinical practice setting. MATERIAL AND METHODS: Retrospective study of 48 patients evaluated by the SelectMDx® test between July 2017 and April 2019. Patients were stratified into two groups according to the risk estimated by the clinically significant CP test (CS-PC): <2% or 'very low risk', and >2%. Results were expressed based on previous prostate biopsy (PB) and multi-parametric magnetic resonance imaging (mpMRI) outcomes. RESULTS: Patients with negative PB and normal/doubtful mpMRI had <2% risk in 7/9 cases. Patients without PB and normal/doubtful mpMRI had <2% risk in 12/18 cases, and 2/6 cases with a >2% risk presented CS-PC. Of the 14 patients with no previous PB or mpMRI, 9 had <2% risk, and 2 cases were diagnosed with PC from the group of patients (5) with risk >2%. The number of patients in the remaining subgroups is too small to draw any conclusions. In all cases with pathological digital rectal examination, the test showed a >2% PC risk. CONCLUSION: SelectMDx® is a promising test for detecting patients with a very low risk of CS-PC, especially in patients with suspected PC, with or without negative PB, with normal/doubtful mpMRI. The presence of a pathological digital rectal examination may condition the result of the test.


Assuntos
Biomarcadores Tumorais/urina , Neoplasias da Próstata/diagnóstico , Neoplasias da Próstata/urina , Idoso , Humanos , Biópsia Líquida , Masculino , Pessoa de Meia-Idade , Próstata/patologia , Estudos Retrospectivos , Urinálise/métodos
9.
Actas Urol Esp (Engl Ed) ; 44(3): 148-155, 2020 Apr.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-31866160

RESUMO

Prostate cancer (PCa) is the second leading cause of cancer-related mortality and the most frequently diagnosed male malignant disease among men. The manifestation of PCa ranges from indolent to highly aggressive disease and due to this high variation in PCa progression, the diagnosis and subsequent treatment planning can be challenging. The current diagnostic approach with PSA testing and digital rectal examination followed by transrectal ultrasound biopsies lack in both sensitivity and specificity in PCa detection and offers limited information about the aggressiveness and stage of the cancer. Scientific work supports the rapidly growing use of multiparametric magnetic resonance imaging as the most sensitive and specific imaging tool for detection, lesion characterization and staging of PCa. Therefore, we carried out an updated review of magnetic resonance imaging in the diagnostic PCa reviewing the latest papers published in PubMed.


Assuntos
Imageamento por Ressonância Magnética , Neoplasias da Próstata/diagnóstico por imagem , Europa (Continente) , Previsões , Humanos , Masculino , Guias de Prática Clínica como Assunto , Sociedades Médicas , Urologia
10.
Neth J Med ; 77(9): 346, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31814593
11.
Eur J Pain ; 23(1): 35-45, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-29882614

RESUMO

BACKGROUND: Wide international variation in the prevalence of disabling low back pain (LBP) among working populations is not explained by known risk factors. It would be useful to know whether the drivers of this variation are specific to the spine or factors that predispose to musculoskeletal pain more generally. METHODS: Baseline information about musculoskeletal pain and risk factors was elicited from 11 710 participants aged 20-59 years, who were sampled from 45 occupational groups in 18 countries. Wider propensity to pain was characterized by the number of anatomical sites outside the low back that had been painful in the 12 months before baseline ('pain propensity index'). After a mean interval of 14 months, 9055 participants (77.3%) provided follow-up data on disabling LBP in the past month. Baseline risk factors for disabling LBP at follow-up were assessed by random intercept Poisson regression. RESULTS: After allowance for other known and suspected risk factors, pain propensity showed the strongest association with disabling LBP (prevalence rate ratios up to 2.6, 95% CI: 2.2-3.1; population attributable fraction 39.8%). Across the 45 occupational groups, the prevalence of disabling LBP varied sevenfold (much more than within-country differences between nurses and office workers), and correlated with mean pain propensity index (r = 0.58). CONCLUSIONS: Within our study, major international variation in the prevalence of disabling LBP appeared to be driven largely by factors predisposing to musculoskeletal pain at multiple anatomical sites rather than by risk factors specific to the spine. SIGNIFICANCE: Our findings indicate that differences in general propensity to musculoskeletal pain are a major driver of large international variation in the prevalence of disabling low back pain among people of working age.


Assuntos
Atividades Cotidianas , Internacionalidade , Dor Lombar/epidemiologia , Dor Musculoesquelética/epidemiologia , Adulto , Feminino , Humanos , Dor Lombar/fisiopatologia , Masculino , Pessoa de Meia-Idade , Dor Musculoesquelética/fisiopatologia , Doenças Profissionais/epidemiologia , Doenças Profissionais/fisiopatologia , Prevalência , Análise de Regressão , Fatores de Risco , Adulto Jovem
12.
Drugs Today (Barc) ; 54(9): 519-533, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30303493

RESUMO

Tolvaptan is an orally active antagonist of vasopressin (antidiuretic hormone [ADH]) V2 receptors. By blocking water reabsorption in kidney collecting ducts, it prompts renal free-water excretion and has been used for the treatment of hyponatremia, both euvolemic due to the syndrome of inappropriate ADH secretion, and hypervolemic due to liver cirrhosis and congestive heart failure. In the past few years, it has been shown that vasopressin and its second messenger cyclic adenosine monophosphate (cAMP) play an important role in the pathogenesis of autosomal dominant polycystic kidney disease (ADPKD). This has been the rationale for the use of tolvaptan to halt the progression of ADPKD, mainly through slowing kidney growth and decline in renal function. Two major randomized clinical trials have demonstrated the benefits of tolvaptan in slowing the progression of ADPKD in terms of kidney growth and decline in renal function at 1 and 3 years (REPRISE and TEMPO). However, the long-term effectiveness of treatment with tolvaptan remains to be determined.


Assuntos
Antagonistas dos Receptores de Hormônios Antidiuréticos/uso terapêutico , Rim Policístico Autossômico Dominante/tratamento farmacológico , Tolvaptan/uso terapêutico , Ensaios Clínicos como Assunto , Interações Medicamentosas , Humanos , Tolvaptan/efeitos adversos , Tolvaptan/farmacocinética , Tolvaptan/farmacologia
13.
Oncoimmunology ; 7(7): e1445952, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29900063

RESUMO

Direct stimulation of the antitumor activity of immune system through checkpoint inhibitors (ICIs) has demonstrated efficacy in the treatment of different cancer types. The activity of these antibodies takes place in the immunological synapse blocking the binding of the negative immunoregulatory proteins, thus leading to the finalization of the immune response. Despite having a favorable toxicity profile, its mechanism of action impedes the negative regulation of the immune activity which can potentially favor autoimmune attacks to normal tissues. Renal toxicity has been described in several ICI but not with atezolizumab, an IgG1 monoclonal antibody targeting PD-L1 (programmed death ligand 1), approved by FDA as a second-line therapy for advanced urothelial carcinoma. Here we present a patient with a single kidney and metastatic renal cell carcinoma treated with atezolizumab and bevacizumab combination, with biopsy-proven acute interstitial nephritis, who had a complete resolution of renal dysfunction after steroid therapy.

14.
Clin Rheumatol ; 37(4): 1065-1074, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29520673

RESUMO

The classification of anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) remains controversial. The main objective of this study was to define the respective values of ANCA serotype-based classification, clinicopathological classification, and histopathological classification in predicting patient and renal outcomes in a Spanish cohort of patients with ANCA with specificity for myeloperoxidase, MPO-ANCA, versus ANCA with specificity for proteinase 3, PR3-ANCA. Two hundred and forty-five patients with ANCA-AAV and biopsy-proven renal involvement diagnosed between 2000 and 2104 were recruited in 12 nephrology services. Clinical and histologic data, renal outcomes, and mortality were analyzed. We applied the Chapel Hill Consensus Conference definition with categories for granulomatosis with the polyangiitis (GPA) and microscopic polyangiitis (MPA), the classification based on ANCA specificity, and the histopathological classification proposed in 2010. Eighty-two percent were MPO-ANCA positive and 18.0% PR3-ANCA positive. Altogether, 82.9% had MPA and 17.1% GPA. The median follow-up was 43.2 months (0.1-169.3). Neither ANCA-based serological nor clinical classification was predictive of renal outcomes or patient survival on bivariate or multivariate Cox regression analysis. Histopathological classification was found to predict development of end-stage renal disease (p = 0.005) in Kaplan-Meier analysis. ANCA specificity was more predictive of relapse than clinicopathological classification in multivariate analysis (HR 2.086; 95% CI 1.046-4.158; p = 0.037). In our Spanish cohort, a majority of patients had an MPO-ANCA-AAV. A classification based on ANCA specificity has a higher predictive value for relapse occurrence and could be used for decision-making with respect to induction treatment and maintenance therapies.


Assuntos
Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/fisiopatologia , Anticorpos Anticitoplasma de Neutrófilos/imunologia , Rim/fisiopatologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/imunologia , Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/patologia , Feminino , Humanos , Rim/imunologia , Rim/patologia , Masculino , Pessoa de Meia-Idade , Mieloblastina/imunologia , Estudos Retrospectivos , Espanha , Adulto Jovem
15.
Artigo em Inglês | MEDLINE | ID: mdl-29031393

RESUMO

OBJECTIVE: To determine whether maternal diet supplementation with omega-3 long chain polyunsaturated fatty acids (omega-3 LC-PUFAs) during the last trimester of pregnancy and the breastfeeding period influences the levels of inflammatory cytokines in mother and infants. MATERIAL AND METHOD: This registered, double-blind randomized study included 46 pregnant women, who were randomly allocated to either an experimental group receiving 400mL/day of a fish oil-enriched dairy drink [320mg docosahexaenoic acid (DHA) + 72mg eicoapentaenoic acid] (FO group, n = 24) or to a control group receiving 400mL/day of a non-supplemented dairy drink (CT group, n = 22), from week 28 of pregnancy until the fourth month of lactation. During the study, maternal dietary patterns were monitored by a nutritionist, who encouraged compliance with current recommendations of fatty acids intake. DHA concentrations and cytokine levels (GM-CSF, IL-2, IL-4, IL-6, IL-10, INF-γ and TNF-α) were measured in maternal plasma at the moment of recruitment and in maternal (n = 46) and infant (n = 46) plasma at birth and 2.5 months after birth. RESULTS: Maternal plasmatic IL-4 levels were higher in FO than in CT subjects (p = 0.009). Additionally, a tendency was observed to higher IL-10 and IL-2 in the FO group. Plasmatic IL-6 however, was higher in CT mothers (p = 0.001). TNF-α was higher in CT infants at birth and 2.5 months after birth (p = 0.005). An analysis of possible relationships between DHA and the concentrations of different cytokines revealed negative correlation between maternal plasmatic IL-6 and DHA (higher plasmatic DHA corresponded to lower IL-6). CONCLUSIONS: Maternal dietary omega-3 LC-PUFAs supplementation during critical periods like pregnancy, lactation and early newborn development may influence the levels of certain inflammatory cytokines, reducing pro-inflammatory cytokines and promoting an anti-inflammatory "environment".


Assuntos
Ácidos Graxos Ômega-3/administração & dosagem , Fenômenos Fisiológicos da Nutrição Materna , Mães , Terceiro Trimestre da Gravidez/efeitos dos fármacos , Adulto , Aleitamento Materno , Criança , Citocinas/sangue , Suplementos Nutricionais , Ácidos Docosa-Hexaenoicos/sangue , Feminino , Óleos de Peixe/administração & dosagem , Humanos , Lactente , Recém-Nascido , Lactação/efeitos dos fármacos , Leite Humano/efeitos dos fármacos , Leite Humano/metabolismo , Gravidez , Terceiro Trimestre da Gravidez/sangue
16.
Pediatr. aten. prim ; 19(75): 267-270, jul.-sept. 2017.
Artigo em Espanhol | IBECS | ID: ibc-166638

RESUMO

El síndrome de Alagille es una patología poco frecuente. Afecta a uno de cada 100 000 recién nacidos vivos. Se caracteriza por una hipoplasia de vías biliares que se asocia a otras malformaciones. Se presenta el caso de un niño chino de cuatro años al que se le diagnosticó esta patología tras ser adoptado a los 11 meses de edad (AU)


Alagille syndrome is an uncommon pathology. It is found in 1/100,000 live births. It is characterized by biliary duct hypoplasia associated with other malformations. We report the case of a four-year-old Chinese child who was diagnosed with this pathology after being adopted at 11 months of age (AU)


Assuntos
Humanos , Masculino , Lactente , Síndrome de Alagille/dietoterapia , Síndrome de Alagille/patologia , Doenças dos Ductos Biliares/complicações , Colestase/complicações , Atenção Primária à Saúde , Hipertelorismo/complicações , Cardiopatias/complicações , Cardiopatias , Tomografia Computadorizada de Emissão/métodos , Tomografia Computadorizada de Emissão
18.
Clin Genet ; 92(3): 306-317, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28255985

RESUMO

BACKGROUND: Tyrosinemia type II, also known as Richner-Hanhart Syndrome, is an extremely rare autosomal recessive disorder, caused by mutations in the gene encoding hepatic cytosolic tyrosine aminotransferase, leading to the accumulation of tyrosine and its metabolites which cause ocular and skin lesions, that may be accompanied by neurological manifestations, mostly intellectual disability. AIMS: To update disease-causing mutations and current clinical knowledge of the disease. MATERIALS AND METHODS: Genetic and clinical information were obtained from a collection of both unreported and previously reported cases. RESULTS: We report 106 families, represented by 143 individuals, carrying a total of 36 genetic variants, 11 of them not previously known to be associated with the disease. Variants include 3 large deletions, 21 non-synonymous and 5 nonsense amino-acid changes, 5 frameshifts and 2 splice variants. We also report 5 patients from Gran Canaria, representing the largest known group of unrelated families sharing the same P406L mutation. CONCLUSIONS: Data analysis did not reveal a genotype-phenotype correlation, but stressed the need of early diagnosis: All patients improved the oculocutaneous lesions after dietary treatment but neurological symptoms prevailed. The discovery of founder mutations in isolated populations, and the benefits of early intervention, should increase diagnostic awareness in newborns.


Assuntos
Efeito Fundador , Estudos de Associação Genética , Mutação , Fenótipo , Tirosinemias/diagnóstico , Tirosinemias/genética , Adolescente , Idade de Início , Alelos , Criança , Pré-Escolar , Feminino , Loci Gênicos , Genótipo , Humanos , Lactente , Recém-Nascido , Masculino , Linhagem , Polimorfismo de Nucleotídeo Único , Tirosina Transaminase/genética , Tirosinemias/dietoterapia , Adulto Jovem
19.
Eur J Obstet Gynecol Reprod Biol ; 206: 12-21, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27612214

RESUMO

BACKGROUND: Postpartum haemorrhage (PPH) is an unpredictable obstetric emergency that requires a multidisciplinary approach. Pelvic arterial embolization (PAE) is considered as a second-line treatment, although the published results have not been reviewed systematically since 2007. OBJECTIVES: To evaluate success and complication rates of PAE to treat PPH in the study hospital between 2009 and 2015, and to perform a systematic review of the literature on the reported efficacy and safety of PAE for the management of PPH. SEARCH STRATEGY: A systematic review of articles on PAE in English or Spanish was conducted using Medline and the Cochrane Library. SELECTION CRITERIA: All published articles assessing success and complication rates of PAE in cases of PPH. The search was restricted to articles published in English or Spanish between 2000 and 2015, with at least 25 cases. DATA COLLECTION AND ANALYSIS: Obstetric variables, maternal haemodynamic state, pre-/postembolization management, technique-related variables, post-PAE evolution and complications were recorded in the case series study. Study characteristics, success rates and PAE-related complication rates were recorded in the systematic review. MAIN RESULTS: The case series included 29 patients. The majority of these patients were primiparous, with singleton term pregnancies and spontaneous labour. Caesarean section was performed in 62.1% of patients undergoing PAE for PPH. PAE was successful in 89.6% [95% confidence interval (CI) 78.3-100] of cases. Twenty studies were included in the systematic review, providing data from 1739 patients. PAE was successful in 89.4% (95% CI 87.9-90.9) of cases. The mortality rate was 0.9%, and other major complications were uncommon (1.8%). CONCLUSIONS: PAE was found to be a minimally invasive, highly successful and safe technique for the management of PPH. It should be considered in PPH refractory to initial treatment.


Assuntos
Embolização Terapêutica/métodos , Pelve/irrigação sanguínea , Hemorragia Pós-Parto/terapia , Feminino , Humanos , Gravidez , Resultado do Tratamento
20.
Chem Commun (Camb) ; 52(20): 3974-6, 2016 Mar 11.
Artigo em Inglês | MEDLINE | ID: mdl-26886579

RESUMO

A quadruply bonded complex W2(DippF)2K2 with a W2(0) core was synthesized and structurally characterized. The observed W-W distance of 2.407(1) Å and DFT calculations are consistent to the unprecedented electronic structure in D(2h) symmetry of σ(2)π(2)π(2)δ(2)δ(2)δ*(2) where the HOMO is the δ* orbital.


Assuntos
Compostos Organometálicos/química , Teoria Quântica , Tungstênio/química , Ligantes , Estrutura Molecular , Compostos Organometálicos/síntese química
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