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1.
Rev. chil. endocrinol. diabetes ; 14(2): 90-94, 2021.
Article in Spanish | LILACS | ID: biblio-1283560

ABSTRACT

La diabetes mellitus tipo 2 (DM2), habitualmente asociada a adultos en edad media y adulto mayor, ha presentado un aumento en su incidencia en pacientes menores de 40 años, lo que se conoce como DM2 de inicio en paciente joven. Varios estudios sugieren que este tipo de diabetes presenta no sólo un deterioro más rápido de las células beta-pancreáticas en comparación con la DM2 de inicio más tardío, sino que también un mayor riesgo de complicaciones que pacientes con DM Tipo1, lo que sugiere una variable independiente de los años de exposición a la enfermedad y por tanto, un fenotipo más agresivo. Por otra parte, hay evidencia que afirma que existen grupos poblacionales en mayor riesgo de desarrollar esta patología, particularmente ciertas etnias. En el presente trabajo se exponen los principales hallazgos de una reciente revisión del tema y se los compara con los datos nacionales disponibles. Dada la alta prevalencia de DM2 en la población chilena y la escasa cantidad de estudios epidemiológicos de calidad que permitan conocer nuestro panorama con mayor precisión, es que se destaca la importancia de estos últimos para poder tomar medidas de salud pública adecuadas.


Type 2 diabetes mellitus type 2 (T2DM), commonly associated with the middle to old aged adults group, has shown an increase in incidence in patients younger than 40 years old, which is known as young-onset type 2 diabetes mellitus. Several studies suggest that this type of diabetes not only exhibits a faster deterioration of the beta-pancreatic cells in comparison with type 1 diabetes mellitus patients, but also a greater risk of complications not regarding the time of exposure to the disease, therefore a more aggressive phenotype. Otherwise, there is evidence which asserts that some population groups are in mayor risk of developing this disease, especially certain ethnics. In this work it is exposed the main findings of a recent review of the subject and it is contrasted with available national data. Given the high prevalence of T2DM in the chilean population and the little amount of epidemiological high-quality studies that allows us to know our outlook with greater precision, it is highlighted the need for them in order to make adequate public health decisions.


Subject(s)
Humans , Adult , Age Factors , Diabetes Mellitus, Type 2/epidemiology , Chile/epidemiology , Risk Factors , Age of Onset , Diabetes Mellitus, Type 2/complications , Diabetes Mellitus, Type 2/mortality , Diabetic Nephropathies/etiology , Diabetic Nephropathies/epidemiology , Diabetic Neuropathies/etiology , Diabetic Neuropathies/epidemiology
2.
Article in Chinese | WPRIM | ID: wpr-879549

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with autosomal dominant late-onset non-syndromic hearing loss (NSHL).@*METHODS@#Clinical data of the pedigree were collected. Genomic DNA was extracted from peripheral blood samples of the proband and other family members. Trio whole exome sequencing was carried out for 19 396 genes to identify potential pathogenic variants. Sanger sequencing was carried out to verify the candidate variant in the pedigree.@*RESULTS@#The proband and his father were found to carry a c.1183+1delG p.? variant of the DFNA5 gene. The variant was confirmed to be co-segregating with the disease phenotype in the pedigree.@*CONCLUSION@#The c.1183+1delG p.? variant of the DFNA5 gene probably underlay the late onset NSHL in this pedigree. Above finding has enabled accurate genetic counseling for this pedigree.


Subject(s)
Age of Onset , China , Hearing Loss, Sensorineural/genetics , Humans , Male , Mutation , Pedigree , Receptors, Estrogen/genetics
3.
Rev. bras. ortop ; 55(5): 637-641, Sept.-Oct. 2020. tab, graf
Article in English | LILACS | ID: biblio-1144205

ABSTRACT

Abstract Objective Congenital clubfoot (PTC) is a congenital orthopedic condition often requiring intensive treatment; little is known about the impact of such treatment on motor development. The present study assessed whether gait development is later in patients with PTC treated with the Ponseti method in comparison to a control group and analyzed possible related factors. Methods Patients born at term, < 6 months old, not submitted to previous treatment and with a minimum follow-up period of 24 months were included. The control group consisted of patients with no musculoskeletal disorders seen during the present study. Results The study group consisted of 97 patients, whereas the control group had 100 subjects. The mean age at gait start was 14.7 ± 3.2 months in the study group and 12.6 ± 1.5 months in the control group (p< 0.05). Factors related to late gait included age at beginning of treatment > 3 weeks, number of plaster cast changes > 7, recurrence and nonperformance of Achilles tenotomy. Age at beginning of treatment > 3 weeks was related to a greater number of plaster cast changes. Gender and laterality were not related to late gait development. Conclusion Congenital clubfoot patients treated with the Ponseti method show independent walking approximately 2 months later than the control group. Delayed treatment, higher number of plaster cast changes, recurrence and nonperformance of Achilles tenotomy were related to late gait.


Resumo Objetivo O pé torto congênito (PTC) é uma das alterações ortopédicas congênitas que mais frequentemente necessita tratamento intensivo, e pouco se sabe o impacto desse tratamento no desenvolvimento motor. O presente estudo buscou avaliar se pacientes portadores de PTC tratados pelo método de Ponseti desenvolvem a marcha mais tardiamente comparado a um grupo controle e analisar possíveis fatores relacionados. Métodos Incluídos pacientes nascidos a termo, com < 6 meses de idade, sem tratamento prévio e com seguimento mínimo de 24 meses. O grupo controle foi de pacientes sem alterações musculoesqueléticas, atendidos no mesmo período da realização do presente estudo. Resultados Um total de 97 pacientes formaram o grupo de estudo e 100 o grupo controle. A média de idade no início da marcha no grupo de estudo foi de 14,7 ± 3,2 meses, e 12,6 ± 1,5 meses (p< 0,05) no grupo controle. Fatores relacionados à marcha tardia foram: idade de início do tratamento > 3 semanas, número de trocas gessadas > 7, recidiva e não realização da tenotomia de Aquiles. Idade de início do tratamento > 3 semanas esteve relacionada a maior número de trocas de gessos. Gênero e lateralidade não tiveram relação com a marcha tardia. Conclusão Pacientes com PTC tratados com o método de Ponseti apresentam marcha independente aproximadamente 2 meses mais tarde do que o grupo controle. Início mais tardio do tratamento, maior número de trocas de gessos, recidiva e não realização da tenotomia de Aquiles foram relacionados com atraso da marcha.


Subject(s)
Humans , Male , Female , Infant , Clubfoot , Casts, Surgical , Control Groups , Walking , Treatment Outcome , Age of Onset , Lower Extremity Deformities, Congenital , Time-to-Treatment , Gait , Gender Identity , Functional Laterality , Manipulation, Orthopedic
4.
Medicina (B.Aires) ; 80(1): 10-16, feb. 2020. graf, tab
Article in Spanish | LILACS | ID: biblio-1125032

ABSTRACT

La miastenia gravis (MG) es una enfermedad autoinmune mediada por anticuerpos dirigidos contra proteínas post sinápticas de la unión neuromuscular. El objetivo de este estudio fue describir los aspectos clínicos, epidemiológicos y serológicos de pacientes con MG en un Hospital Público de la Ciudad de Buenos Aires. Se realizó un análisis retrospectivo sobre 190 enfermos con diagnóstico de MG. La edad media de inicio de la enfermedad fue de 38 años; 57 (30%) fueron MG de inicio tardío (inicio de síntomas > 50 años). La relación mujer/hombre fue 1.7/1. La enfermedad se inició más tempranamente en las mujeres que en los hombres, media 32 vs. 48 años (p < 0.0001). La MG familiar autoinmune representó el 3.2 % (6 casos). La forma más común de presentación fue con manifestaciones oculares puras (52%). El 12.1% (23/190) fue considerada MG ocular en el seguimiento. La MG asociada a timoma se presentó en 22 casos (11.6%). El 27.1% presentó otra enfermedad autoinmune asociada, siendo las tiroideas las más frecuentes. El 81.4% tuvo anticuerpos anti-receptores de acetilcolina (ACRA) positivos y 22.7% de los ACRA negativos fueron positivos para anticuerpos anti-tirosina quinasa musculo especifica (anti-MusK). La evolución clínica fue favorable, hallándose más de la mitad de los casos en remisión o manifestaciones mínimas en la última visita. La mayoría requirió inmunosupresión para control de la sintomatología, el 78% recibió corticoides y el 48% un inmunosupresor no esteroideo.


Myasthenia gravis (MG) is an antibody-mediated autoimmune disease of the neuromuscular junction. The aim of this study was to evaluate clinical, epidemiological and serological features of patients with MG in a Public Hospital of Buenos Aires City. A retrospective analysis of 190 patients diagnosed with MG was performed. The mean age of MG onset was 38 years, 30% had late-onset MG (onset age > 50 years). The female/male ratio was 1.7 / 1. Disease started earlier in women than in men, mean 32 vs. 48 years (p < 0.0001). Familial autoimmune MG represented 3.2% of the cases. Most of the patients initiated their disease with a pure ocular form (52%). 12.1% (23/190) were considered ocular MG at follow-up. Thymoma-associated MG represented 11.6% of cases. 27.1% had other associated autoimmune disease, thyroid disorders were the most frequent. 81.4% were anti-acetylcholine receptor antibody (AChR-ab) positive MG; 22.7% of AChR-ab negatives were positive for anti-muscle specific kinase (MusK) antibodies. Clinical outcome was relatively good; more than half of cases were in remission or minimal manifestations at the last visit. The majority of patients required immunosuppression to control the symptoms, 78% received corticosteroids and 48%, a non-steroidal immunosuppressant.


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Aged , Aged, 80 and over , Young Adult , Myasthenia Gravis/epidemiology , Argentina/epidemiology , Autoimmune Diseases/epidemiology , Sex Factors , Prevalence , Retrospective Studies , Receptors, Cholinergic/immunology , Sex Distribution , Receptor Protein-Tyrosine Kinases/immunology , Age of Onset , Age Distribution , Myasthenia Gravis/immunology
5.
Article in Chinese | WPRIM | ID: wpr-781704

ABSTRACT

At present, non-standard use of antibiotics remains a common phenomenon in the treatment of preterm infants with early-onset sepsis (EOS) in China. The expert panel of neonatologists in Hunan Province formulated a consensus on the diagnosis and use of antibiotics for EOS in preterm infant [Chin J Contemp Pediatr, 2020, 22(1): 1-6], which has a positive effect on the rational use of antibiotics. Based on this consensus, this article points out that in order to use antibiotics accurately, it is necessary to accurately identify EOS in preterm infants, accurately understand their clinical manifestations and medical history, and accurately evaluate the laboratory test results. Also, this article offers suggestions for the use of antibiotics in preterm infants with EOS.


Subject(s)
Age of Onset , Anti-Bacterial Agents , Therapeutic Uses , China , Humans , Infant, Newborn , Infant, Premature , Infant, Premature, Diseases , Risk Factors , Sepsis , Drug Therapy
6.
Asia Pacific Allergy ; (4): 9-2020.
Article in English | WPRIM | ID: wpr-785456

ABSTRACT

BACKGROUND: Recently, the prevalence of food allergies during childhood is increasing, with fruits being common allergens. However, data on allergens that cause fruit and vegetable allergies and pollen-food allergy syndrome (PFAS) in childhood are relatively few. This study aimed to examine the allergens in fruit and vegetable allergies in pediatric patients and to determine the association between fruit and vegetable allergies and PFAS.OBJECTIVE: This study aimed to examine the current status of fruit and vegetable allergies in Japanese children.METHODS: This was a multicenter case series observational study. The participants included children aged <15 years who developed allergic symptoms after eating fruits and vegetables and subsequently received treatment in the Pediatric Department of 6 hospitals in the Osaka Prefecture in Japan during the study period from August 2016 to July 2017. Participants' information was obtained using a questionnaire, and data were obtained by performing several types of allergy tests using blood samples.RESULTS: A total of 97 children (median age, 9 years; 56 males) were included in the study. Apple was the most common allergen, followed by peach, kiwi, cantaloupe, and watermelon. A total of 74 participants (76%) exhibited allergic symptoms due to PFAS; moreover, pathogenesis-related protein-10 (PR-10) was the most common allergen superfamily. On the contrary, in the group where neither PR-10 nor profilin was sensitized, kiwi and banana were the most common allergens, and the age of onset was lower than that in the PFAS group. Specific antibody titer was significantly associated with Birch for Bet v1 and latex for Bet v2 (r = 0.99 and r = 0.89).CONCLUSION: When we examine patients with fruit and vegetable allergies, we should first consider PFAS even in childhood specifically for children greater than 4 years old.


Subject(s)
Age of Onset , Allergens , Asian Continental Ancestry Group , Betula , Child , Citrullus , Clinical Study , Cucumis melo , Eating , Food Hypersensitivity , Fruit , Humans , Hypersensitivity , Japan , Latex , Musa , Observational Study , Prevalence , Profilins , Prunus persica , Rhinitis , Rhinitis, Allergic, Seasonal , Vegetables
7.
Rev. colomb. reumatol ; 27(1): 26-36, 2020. tab
Article in English | LILACS | ID: biblio-1144397

ABSTRACT

ABSTRACT Background: Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease in the paediatric age. It is estimated that between 30-60% of adults patients persist with active disease, which leads to sequelae and complications as well as a decrease functional capacity and reduced quality of life. Objectives: To evaluate the health-related quality of life in adult patients diagnosed with juvenile idiopathic arthritis. Methodology: A cross-sectional study was performed, using a search for adult patients diagnosed with JIA between 1996 and 2018. Clinical records were reviewed during the paediatric age, and clinical parameters were evaluated for activity (JADASc-71), and joint (JADI-A) and extra-articular (JADI-E) damage, functional capacity (HAQ), and quality of life (SF-36). Relationships were determined by non-conditional logistic regression. Results: A total of 69 patients were included. The most frequent subtype of JIA was enthesitis-related arthritis (ERA) (33%). Active disease was observed in 33%. Polyarticular JIA RF (+) was associated with active disease (P = .007), high values of JADASc-71 (P = .003), and HAQ (P = .001). Age of onset after 5 years reduced risk of joint damage (OR = 0.16) and extra-articular damage (OR = 0.03). Poor therapeutic adherence was associated with joint damage (P = .00) and JADASc-71 (P = .004). A high score of JADI-E was associated with functional dis-ability (OR = 5.75). Joint damage (P = .003) and extra-articular damage (P = .024), and functional disability (OR = 7.05) were associated with low values in the SF-36. Conclusions: JIA is not a disease limited to the paediatric age. Persistence of active disease, joint, and extra-articular damage are associated with functional disability and a decrease in H-RQoL.


RESUMEN Introducción: La artritis idiopática juvenil (AIJ) permanece activa en el 30-60% de los pacientes adultos, conduciendo a complicaciones articulares, extraarticulares, disminución en la capacidad funcional y reducción en la calidad de vida. Objetivos: Evaluar la calidad de vida relacionada con la salud en pacientes adultos con diagnóstico de AIJ. Metodología: Estudio corte transversal; se realizó una búsqueda de pacientes adultos con diagnóstico de AIJ entre 1996 y 2018. Se revisaron historias clínicas durante la edad pediátrica y se evaluaron parámetros clínicos para actividad (JADASc-71), daño articular (JADI-A) y extraarticular (JADI-E), capacidad funcional (HAQ) y calidad de vida (SF-36). Asociaciones determinadas por regresión logística no condicional. Resultados: Se incluyó a 69 pacientes. El subtipo de AIJ más frecuente fue la artritis relacionada con la entesitis (ARE) (33%). El 33% de los pacientes tenían enfermedad activa. La AIJ poliarticular FR positivo se asoció a enfermedad persistentemente activa (p = 0,007), altos valores del JADASc-71 (p = 0,003) y HAQ (p = 0,001). La edad de inicio posterior a 5 años redujo el riesgo de daño articular (OR = 0,16) y extraarticular (OR = 0,03). La mala adherencia terapéutica se asoció a daño articular (p = 0,00) y JADASc-71 (p = 0,004). La alta puntuación del JADI-E se asoció a discapacidad funcional (OR = 5,75). El daño articular (p = 0,003) y extraarticular (p = 0,024) y discapacidad funcional (OR = 7,05) se asociaron a bajos valores en SF-36. Conclusiones: La AIJ no es una enfermedad limitada a edad pediátrica. La persistencia de enfermedad activa y el daño articular y extraarticular se asocian a discapacidad funcional y disminución en la calidad de vida relacionada con la salud.


Subject(s)
Humans , Adult , Middle Aged , Arthritis, Juvenile , Quality of Life , Rheumatic Diseases , Age of Onset
8.
Article in Chinese | WPRIM | ID: wpr-879793

ABSTRACT

OBJECTIVE@#To study the clinical features of @*METHODS@#A retrospective analysis was performed on the medical data of children with immunodeficiency and @*RESULTS@#The onset age in the PID group was significantly lower than those in the control and SID groups (@*CONCLUSIONS@#Children with immunodeficiency and


Subject(s)
Age of Onset , Child , Humans , Immunologic Deficiency Syndromes/diagnosis , Male , Retrospective Studies , Tuberculin Test , Tuberculosis/epidemiology
9.
Int. braz. j. urol ; 45(6): 1227-1237, Nov.-Dec. 2019. tab, graf
Article in English | LILACS | ID: biblio-1056325

ABSTRACT

ABSTRACT Introduction: Children with a solitary post-nephrectomy kidney (SNK) are at potential risk of developing kidney disease later in life. In response to the global decline in the number of nephrons, adaptive mechanisms lead to renal injury. The aim of this study was to determine the prevalence and time of onset of high blood pressure (HBP), proteinuria, glomerular filtration rate (GFR) disruption and renal tubular acidosis (RTA) in children with SNK. Materials and methods: After obtaining the approval from our institution's ethics committee, we reviewed the medical records of patients under 18 years of age who underwent unilateral nephrectomy between January 2005 and December 2015 in three university hospitals. Results: We identified 43 patients, 35 (81.4%) cases of unilateral nephrectomy (UNP) were due to a non-oncologic pathology and Wilm's tumor was identified in 8 (18.6%) cases. In patients with non-oncologic disease, 9.3% developed de novo hypertension, with an average time of onset of 7.1 years, 25% developed proteinuria de novo, with an average time of onset of 2.2 years. For GFR, 21.8% presented deterioration of the GFR in an average time of 3.4 years. Ten (43.5%) patients developed some type of de novo renal injury after UNP. Patients with oncologic disease developed the conditions slowly and none of them developed proteinuria. Conclusions: Taking into account the high rate of long term postoperative renal injury, it can be considered that nephrectomy does not prevent this disease. The follow-up of children with SNK requires a multidisciplinary approach and long-term surveillance to detect renal injury.


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Solitary Kidney/physiopathology , Solitary Kidney/epidemiology , Nephrectomy/adverse effects , Postoperative Period , Prognosis , Proteinuria/physiopathology , Proteinuria/epidemiology , Acidosis, Renal Tubular/physiopathology , Acidosis, Renal Tubular/epidemiology , Prevalence , Retrospective Studies , Risk Factors , Follow-Up Studies , Colombia/epidemiology , Age of Onset , Renal Insufficiency, Chronic/physiopathology , Renal Insufficiency, Chronic/epidemiology , Glomerular Filtration Rate/physiology , Hypertension/physiopathology , Hypertension/epidemiology
10.
Arch. endocrinol. metab. (Online) ; 63(6): 592-600, Nov.-Dec. 2019. tab
Article in English | LILACS | ID: biblio-1055015

ABSTRACT

ABSTRACT Growth hormone (GH) deficiency (GHD) in adults is well-characterized and includes abnormal body composition, reduced bone mass, an adverse cardiovascular risk profile, and impaired quality of life. In the early 1990s, it was also shown that patients with hypopituitarism without GH replacement therapy (GHRT) had excess mortality. Today, GHRT has been shown to decrease or reverse the negative effects of GHD. In addition, recent papers have shown that mortality and morbidity are approaching normal in hypopituitary patients with GHD who receive modern endocrine therapy including GHRT. Since the first dose-finding studies, it has been clear that efficacy and side effects differ substantially between patients. Many factors have been suggested as affecting responsiveness, such as sex, age, age at GHD onset, adherence, and GH receptor polymorphisms, with sex and sex steroid replacement having the greatest impact. Therefore, the individual tailoring of GH dose is of great importance to achieve sufficient efficacy without side effects. One group that stands out is women receiving oral estrogen replacement, who needs the highest dose. Serum insulin-like growth factor-1 (IGF-1) is still the most used biochemical biomarker for GH dose titration, although the best serum IGF-1 target is still debated. Patients with GHD due to acromegaly, Cushing's disease, or craniopharyngioma experience similar effects from GHRT as others. Arch Endocrinol Metab. 2019;63(6):592-600


Subject(s)
Humans , Male , Female , Adult , Human Growth Hormone/administration & dosage , Human Growth Hormone/deficiency , Hormone Replacement Therapy/methods , Medication Adherence , Precision Medicine , Quality of Life , Age of Onset
11.
Trends psychiatry psychother. (Impr.) ; 41(3): 292-296, July-Sept. 2019. tab
Article in English | LILACS | ID: biblio-1043529

ABSTRACT

Abstract Objectives To assess the sociodemographic, psychiatric and criminal profile of adolescent offenders complying with temporary custody for homicide/homicide attempt and to compare it to that of the population of adolescents in custody for other crimes. Methods This cross-sectional study was based on the review of the medical records of 74 juvenile offenders in temporary custody at socioeducational agency Fundação de Atendimento Sócio-Educativo do Rio Grande do Sul. For the analysis, variables that presented p < 0.2 were included in multivariate adjustment through logistic regression. Results The sample comprised males only, mostly with white skin color (55.6 vs. 57.9% for homicidal and non-homicidal, respectively) and with a high prevalence of school failure (77.8 vs. 91.2%). There was a high prevalence of family history of delinquency (88 vs. 81%). Only years of study and belonging or not to a criminal organization remained statistically significant in the multivariate model. Conclusion The results show that having fewer years of study and denying belonging to a criminal organization are predictive factors of homicidal behavior in adolescent offenders (both with statistical relevance). The other variables were not statistically significant for this outcome. The present study may serve as a basis for further research, which may improve our understanding of risk factors for juvenile homicide.


Resumo Objetivos Avaliar o perfil sociodemográfico, psiquiátrico e criminal de adolescentes infratores que cumprem internação provisória por homicídio ou tentativa de homicídio e compará-los aos adolescentes privados de liberdade por outros atos infracionais. Métodos Este estudo transversal baseou-se na revisão dos prontuários médicos de 74 adolescentes infratores em internação provisória na Fundação de Atendimento Sócio-Educativo do Rio Grande do Sul. Para a análise, variáveis que apresentaram p <0,2 foram incluídas no ajuste multivariado por meio de regressão logística. Resultados A amostra foi composta apenas por homens, a maioria de pele branca (55,6 versus 57,9% para homicidas e não-homicidas, respectivamente) e com alta prevalência de reprovações escolares (77,8 vs. 91,2%). Houve alta prevalência de antecedentes familiares de delinquência (88 versus 81%). Apenas anos de estudo e pertencimento ou não a uma organização criminosa permaneceram estatisticamente significantes no modelo multivariado. Conclusão Os resultados mostram que ter menos anos de estudo e negar pertencer a uma organização criminosa foram fatores preditivos de comportamento homicida em adolescentes infratores (ambos com relevância estatística). As demais variáveis não foram estatisticamente significativas para esse desfecho. O presente estudo pode servir como base para futuras pesquisas, o que pode melhorar nossa compreensão dos fatores de risco para o homicídio juvenil.


Subject(s)
Humans , Male , Adolescent , Criminals/psychology , Homicide/psychology , Social Control, Formal , Brazil , Cross-Sectional Studies , Age of Onset , Conduct Disorder/psychology , Conduct Disorder/epidemiology , Criminals/legislation & jurisprudence , Criminals/statistics & numerical data , Homicide/legislation & jurisprudence , Homicide/statistics & numerical data , Juvenile Delinquency/legislation & jurisprudence , Juvenile Delinquency/psychology , Juvenile Delinquency/statistics & numerical data
12.
J. pediatr. (Rio J.) ; 95(5): 593-599, Sept.-Oct. 2019. tab, graf
Article in English | LILACS | ID: biblio-1040360

ABSTRACT

Abstract Objective: The purpose of this study was to illustrate the association between vascular endothelial growth factor level and pulmonary artery hypertension in children with β-thalassemia major. Method: This case-control study was conducted on 116 children with β-thalassemia major; 58 of them had pulmonary artery hypertension. They were compared to 58 healthy children who were age and sex-matched (control group). Serum levels of vascular endothelial growth factor and echocardiographic assessment were done for all children. Results: Vascular endothelial growth factor serum level was significantly higher in children with β-thalassemia major with pulmonary artery hypertension than in those without pulmonary artery hypertension, as well as in control groups (p < 0.001). Vascular endothelial growth factor serum level had a significant positive correlation with pulmonary artery pressure and serum ferritin, as well as a significant negative correlation with the duration of chelation therapy. Logistic regression analysis revealed that elevated vascular endothelial growth factor (Odd Ratio = 1.5; 95% Confidence Interval, 1.137-2.065; p = 0.005) was an independent risk factor of pulmonary artery hypertension in such children. Vascular endothelial growth factor serum level at a cutoff point of >169 pg/mL had 93.1% sensitivity and 93.1% specificity for the presence of pulmonary artery hypertension in children with β-thalassemia major. Conclusion: Elevated vascular endothelial growth factor serum level is associated with pulmonary artery hypertension in children with β-thalassemia.


Resumo: Objetivo: A finalidade deste estudo foi exemplificar a associação entre o nível de fator de crescimento endotelial vascular e a hipertensão arterial pulmonar em crianças com talassemia beta maior. Método: Este estudo caso-controle foi realizado em 116 crianças com talassemia beta maior; 58 das quais apresentaram hipertensão arterial pulmonar em comparação com 58 crianças saudáveis pareadas por idade e sexo (grupo de controle). Os níveis séricos do fator de crescimento endotelial vascular e a avaliação ecocardiográfica foram realizados em todas as crianças. Resultados: O nível sérico do fator de crescimento endotelial vascular foi significativamente maior em crianças com talassemia beta maior com hipertensão arterial pulmonar que as crianças sem hipertensão arterial pulmonar e os grupos de controle (p < 0,001). O nível sérico do fator de crescimento endotelial vascular apresentou uma correlação positiva significativa com a pressão arterial pulmonar e a ferritina sérica e correlação negativa significativa com a duração da terapia de quelação. A análise de regressão logística revelou que o fator de crescimento endotelial vascular elevado (RC = 1,5; IC de 95%: 1,137-2,065; p = 0,005) foi um fator de risco independente de hipertensão arterial pulmonar nessas crianças. O nível sérico do fator de crescimento endotelial vascular no ponto de corte > 169 (pg/mL) apresentou 93,1% de sensibilidade e 93,1% de especificidade na presença de hipertensão arterial pulmonar em crianças com talassemia beta maior. Conclusão: O nível sérico do fator de crescimento endotelial vascular elevado está associado à hipertensão arterial pulmonar em crianças com talassemia beta.


Subject(s)
Humans , Male , Female , Child , Adolescent , beta-Thalassemia/blood , Vascular Endothelial Growth Factor A/blood , Hypertension, Pulmonary/blood , Reference Values , Splenectomy , Time Factors , Echocardiography, Doppler , Case-Control Studies , Risk Factors , ROC Curve , Analysis of Variance , beta-Thalassemia/physiopathology , Age of Onset , Statistics, Nonparametric , Hypertension, Pulmonary/physiopathology
13.
Rev. Círc. Argent. Odontol ; 78(228): 5-8, ago. 2019. tab, graf
Article in Spanish | LILACS | ID: biblio-1122917

ABSTRACT

Introducción: La caries dental es una de las enfermedades infecciosas más comunes que afectan a los niños y la afección bucal más prevalente a nivel mundial. En niños preescolares, la caries dental puede presentarse con distintos niveles de severidad, desde la lesión incipiente de mancha blanca hasta procesos de caries rampantes, denominadas caries temprana de la infancia (CTI). La CTI es considerada un problema de salud pública y se define como la presencia de una o más piezas primarias con lesiones de caries cavitadas o no, perdidas por caries o restauradas en niños menores de 6 años. Objetivo: Evaluar la prevalencia de CTI en niños de hasta 6 años de edad que concurrieron al Hospital de Odontología Infantil Don Benito Quinquela Martín para su atención. Materiales y métodos: Se seleccionó una muestra de 223 niños que presentaban dentición temporaria sin erupción de primeros molares permanentes que asistieron al Servicio de Clínica y Orientación entre septiembre de 2017 y abril de 2018. Se realizó la inspección bucal al niño y se determinó el índice ceos y la presencia de CTI según severidad. Resultados: Del total de niños evaluados el 58,7% fue de sexo masculino y el 41,3% de sexo femenino. El promedio de edad fue de 3,48 años (DS 1,25). La prevalencia de CTI fue del 76%. Conclusión: La CTI es un serio problema de salud pública en el ámbito hospitalario y se debe trabajar con las familias para implementar medidas preventivas y de promoción de la salud que logren disminuir la prevalencia de esta enfermedad infecciosa (AU)


Introduction: Dental caries is one of the most common infectious diseases that affect children and the most prevalent oral affection in the world. In preschool children, dental caries can present with different levels of severity, from the incipient lesion of white spot to processes of rampant caries, called early childhood caries (ECC). ECC is considered a Public Health problem and it is defined as the presence of 1 or more decayed (noncavitated or cavitated lesions), missing (due to caries), or filled tooth surfaces in any primary tooth in a child under the age of 6. Objective: To evaluate the prevalence of ECC in children up to 6 years of age who attended the Don Benito Quinquela Martín Children's Dentistry Hospital for their care. Materials and methods: A sample of 223 children who presented temporary dentition without eruption of first permanent molars who attended the Clinical and Guidance Service between September 2017 and April 2018 were selected. The oral inspection was performed on the child and the ceos index and the presence of ECC according to severity was determined. Results: From the total of children evaluated, 58.7% were male and 41.3% were female. The average age was 3.48 years (SD 1.25). The prevalence of ECC was 76%. Conclusion: ECC is a serious public health problem in the hospital environment and we must work with the families to implement preventive and health promotion measures that reduce the prevalence of this infectious disease (AU)


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Age of Onset , Dental Care for Children , Dental Caries/epidemiology , Dental Service, Hospital , Argentina , Tooth, Deciduous , DMF Index , Health Education, Dental , Statistical Analysis , Early Diagnosis , Age and Sex Distribution
14.
Arq. neuropsiquiatr ; 77(5): 341-345, Jun. 2019. tab, graf
Article in English | LILACS | ID: biblio-1011337

ABSTRACT

ABSTRACT Objective: To describe the employment status of Brazilians with multiple sclerosis (MS). Methods: Analysis of a cross-sectional online survey including questions on demographic and occupational status at the time of diagnosis and survey completion, and time from the first symptom to diagnosis. Results: Of those who answered the survey, 804 Brazilians with MS were included. Median age of onset and current age were 28.3 and 36.2 years; median time to diagnosis and disease duration were 2.7 and 7.9 years; 67% held a university degree and 29% finished high school; 94% had a paid occupation contributing to the family income at least once in their lives, 77% were employed at the time of diagnosis but only 59% were employed at the time of survey. Longer disease duration, longer time to diagnosis and younger age at the first symptom, were identified as factors correlated with being unemployed. Conclusions: The rate of unemployment doubled after the first symptoms of MS, and only 59% of highly-educated people with MS in their productive years were employed. The longer time to diagnosis may imply treatment delay, and strategies focusing on early diagnosis and adequate treatment may favor employment retention and reduce disability related costs, such as social benefits and pension fund use.


RESUMO Objetivo: Descrever o estado de empregabilidade de uma amostra brasileira de pessoas com esclerose múltipla (EM). Métodos: Estudo transversal incluindo informações demográficas e ocupacionais no momento do diagnóstico e atual, e o tempo do primeiro sintoma ao diagnóstico. Resultados: Foram incluídos 804 pacientes com EM, com mediana de idade de início dos sintomas e atual de 28,3 e 36,2 anos; tempo mediano para diagnóstico e duração da doença de 2,7 e 7,9 anos. Desta amostra, 67% possuíam diploma universitário e 29% terminaram o ensino médio. No total, 94% tiveram uma ocupação remunerada pelo menos uma vez na vida, 77% estavam empregados no diagnóstico, mas apenas 59% estavam empregados no momento da pesquisa. Maior duração de doença, maior tempo para o diagnóstico e menor idade no 1° sintoma foram os fatores relacionados ao desemprego. Conclusões: A taxa de desemprego dobra após os primeiros sintomas da EM, e apenas 59% das pessoas com alto nível educacional com EM em seus anos produtivos estão empregados. Maior tempo para o diagnóstico pode implicar atraso no tratamento, e estratégias com foco no diagnóstico precoce e tratamento adequado podem favorecer a retenção de emprego e reduzir os custos relacionados à doença, como benefícios sociais e uso de fundos de pensão.


Subject(s)
Humans , Male , Female , Adult , Employment/statistics & numerical data , Social Determinants of Health/statistics & numerical data , Multiple Sclerosis/epidemiology , Socioeconomic Factors , Time Factors , Brazil/epidemiology , Cross-Sectional Studies , Surveys and Questionnaires , Disabled Persons/statistics & numerical data , Age of Onset , Statistics, Nonparametric , Delayed Diagnosis , Multiple Sclerosis/physiopathology
15.
Säo Paulo med. j ; 137(3): 234-240, May-June 2019. tab
Article in English | LILACS | ID: biblio-1020961

ABSTRACT

ABSTRACT BACKGROUND: There are still few studies on predictors of smoking cessation in Brazilian samples. Experimentation with tobacco during adolescence (ETA) may be one of the important predictors. OBJECTIVE: This study aimed, within the context of a treatment-seeking group of subjects, to test the hypothesis that ETA negatively affects the outcome of smoking cessation during adulthood. DESIGN AND SETTING: Retrospective (historic) cohort study conducted at a psychosocial care center in São Paulo, Brazil, between 2007 and 2010. METHODS: Data on sociodemographics, smoking and medical profiles were obtained through self-report questionnaires that were completed at the baseline and at any follow-up appointment. Logistic regression models were constructed to describe factors associated with the outcome of smoking cessation, measured according to the self-reported four-week success rate among 367 outpatient smokers. RESULTS: ETA was found to be associated with not quitting smoking through the treatment (odds ratio = 0.57; 95% confidence interval = 0.33-0.96; P < 0.05), even after adjustment for dependence level, sociodemographics, nicotine patch use and number of years of smoking. CONCLUSIONS: Early exposure to nicotine may lead to higher risk of continuing smoking after treatment, in adulthood.


Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Cognitive Behavioral Therapy , Adolescent Behavior , Smoking Cessation/psychology , Socioeconomic Factors , Retrospective Studies , Cohort Studies , Age of Onset
16.
Salud pública Méx ; 61(2): 136-146, Mar.-Apr. 2019. tab, graf
Article in Spanish | LILACS | ID: biblio-1058966

ABSTRACT

Resumen: Objetivo: Evaluar la dependencia física y psicológica de los fumadores mexicanos y su asociación con factores físicos, psicológicos y sociales. Material y métodos: A partir de la Encuesta Nacional de Consumo de Drogas, Alcohol y Tabaco 2016 (n=7 331), se analizó la escala de dependencia física a la nicotina de Fagerström (FTND) y la escala corta de dependencia psicológica al tabaco (TAPDSc). Se realizaron análisis bivariados y regresiones logísticas ordinales generalizadas para evaluar los factores asociados. Resultados: 82.3% de fumadores diarios y 98.8% de ocasionales reportaron dependencia física leve, mientras que 47.9 y 37.9%, respectivamente, presentaron dependencia psicológica moderada. La edad de inicio temprana de consumo de tabaco, uso de drogas, consumo alto de alcohol y malestar emocional se asociaron con niveles altos de dependencia psicológica en todos los fumadores. Conclusión: El uso exclusivo de FNTD no permite evaluar adecuadamente a los fumadores mexicanos. La dependencia física y psicológica al tabaco debe ser diagnosticada con escalas independientes y validadas en esta población.


Abstract: Objective: To evaluate the physical and psychological dependence to tobacco of Mexican smokers and its association with physical, psychological and social factors. Materials and methods: The 2016 National Alcohol and Tobacco Drug Consumption Survey (n=7 331) was analyzed using the Fagerström nicotine physical dependence scale (FTND) and the short scale of psychological dependence on tobacco (TAPDSc). Bivariate analyzes and generalized ordinal logistic regressions were performed to evaluate the associated factors. Results: 82.3% of daily smokers and 98.8% of occasional smokers reported mild physical dependence, while 47.9 and 37.9% respectively reported moderate psychological dependence. The age of initiation of tobacco use, drug use, high alcohol consumption and high emotional distress were associated with high levels of psychological dependence in all smokers. Conclusion: The exclusive use of FTND does not allow to adequately evaluate Mexican smokers. The physical and psychological dependence on tobacco should be assessed with independent and validated scales in this population.


Subject(s)
Humans , Adolescent , Adult , Middle Aged , Aged , Young Adult , Tobacco Use Disorder/psychology , Smokers/psychology , Tobacco Use Disorder/epidemiology , Alcohol Drinking/psychology , Smoking/psychology , Smoking/epidemiology , Logistic Models , Health Surveys/statistics & numerical data , Age of Onset , Nicotinic Agonists , Substance-Related Disorders/psychology , Smokers/statistics & numerical data , Mexico/epidemiology , Nicotine
17.
Arq. neuropsiquiatr ; 77(3): 179-183, Mar. 2019. tab
Article in English | LILACS | ID: biblio-1001344

ABSTRACT

ABSTRACT Objective: To determine the prevalence of bruxism and related factors in patients with multiple sclerosis (MS). Methods: Diagnosed with relapsing-remitting MS under the 2010-revised McDonald diagnostic criteria, 182 patients without MS exacerbations during the previous three months were included in the patient group, and 145 healthy individuals made up the control group in the study. Demographic data of the participants in both groups were determined. In the patient and control groups, the diagnosis of definite bruxism was made using the International Classification of Sleep Disorders (Diagnosis and Coding Manual, Second Edition). Results: Bruxism was found in 29.7% (n = 54) of the patients and in 12.4% (n = 18) of the controls, and the difference was statistically significant (p < 0.001). Of all patients, the onset of bruxism was found in 70.4% (n = 38) after the diagnosis and in 29.6% (n = 169) prior to the diagnosis of MS. Compared with those without bruxism, the mean age (p = 0.031) and the score of the Expanded Disability Status Scale (p = 0.001) were also significantly higher among MS patients with bruxism. Between MS patients with and without bruxism, no significant differences were found in terms of sex, marital status, educational status, employment, cigarette smoking, total number of exacerbations, number of exacerbations within the previous year, and drugs used. Conclusions: The frequency of bruxism was found to be higher in the patients with MS than in the controls. Bruxism is associated with age and the Expanded Disability Status Scale score in MS patients.


RESUMO Objetivo: Neste estudo, pretendeu-se determinar a prevalência de bruxismo e fatores relacionados em pacientes com esclerose múltipla (EM). Métodos: Diagnosticados com EM remitente recidivante sob os critérios de McDonald Diagnostic revisados em 2010, 182 pacientes sem ataques de EM durante os últimos três meses foram incluídos no grupo de pacientes, e 145 indivíduos saudáveis constituíram o grupo de controle no estudo. Os dados demográficos dos participantes dos dois grupos foram determinados. Nos grupos de pacientes e controle, o diagnóstico de bruxismo definitivo foi feito usando a Classificação Internacional de Distúrbios do Sono (1) (Manual de Diagnóstico e Codificação Segunda Edição). Resultados: O bruxismo foi detectado em 29,7% (n = 54) dos pacientes e observado dentro de 12,4% (n = 18) dos controles, e a diferença foi estatisticamente significante (p <0,001). De todos os pacientes, o tempo inicial de bruxismo foi encontrado em 70,4% (n = 38) após o diagnóstico e em 29,6% (n = 169) antes do diagnóstico. Em comparação com aqueles sem bruxismo, os níveis de idade média (p = 0,031) e o escore da Escala de Status de Incapacidade Expandida (p = 0,001) também foram significativamente maiores entre os pacientes com esclerose múltipla com bruxismo. Entre os pacientes com esclerose múltipla com e sem bruxismo, não foi encontrada diferença significativa em termos de sexo, estado civil, status educacional, emprego, tabagismo, número total de ataques, número de ataques no último ano e medicamentos utilizados. Conclusões: A freqüência de bruxismo foi maior em pacientes com esclerose múltipla do que nos controles. O bruxismo está associado à idade e ao escore da Escala de Status de Incapacidade Expandida (EDSS) em pacientes com EM.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Bruxism/epidemiology , Multiple Sclerosis, Relapsing-Remitting/epidemiology , Socioeconomic Factors , Turkey/epidemiology , Severity of Illness Index , Bruxism/etiology , Bruxism/physiopathology , Case-Control Studies , Prevalence , Age of Onset , Statistics, Nonparametric , Multiple Sclerosis, Relapsing-Remitting/complications , Multiple Sclerosis, Relapsing-Remitting/physiopathology , Disability Evaluation , Symptom Flare Up
18.
Arq. neuropsiquiatr ; 77(2): 96-100, Feb. 2019. tab, graf
Article in English | LILACS | ID: biblio-983891

ABSTRACT

ABSTRACT Transthyretin amyloidosis (ATTR) is characterized by the deposit of mutant or wild-type transthyretin that forms amyloid fibrils, which are extracellularly deposited within tissues and organs. Clinical manifestations of familial amyloid polyneuropathy vary according to the mutation, age at onset and geographical location. This study aimed to describe baseline disease characteristics of Brazilian patients with transthyretin familial amyloid polyneuropathy (ATTR-FAP) enrolled in the Transthyretin Amyloidosis Outcome Survey (THAOS). Methods: The THAOS is an international, noninterventional, longitudinal, observational, web-based registry designed to characterize ATTR. The outcome measures included demographics (age at symptom onset, gender, time from onset of symptoms to diagnosis, family history), genotype, and clinical characteristics (presence of amyloid deposit, frequency of misdiagnosis, presenting symptomatology). The analysis was conducted in a dataset from Brazilian patients (from November 2008 to January 2016). Results: One hundred and sixty participants (52.5% male) were included in the analysis. The majority of participants (90.6%) reported a positive family history of ATTR-FAP Median age at symptom onset was 32.5 years. Val30Met mutation was found in 91.9%. Misdiagnosis was observed in 26.6% of symptomatic patients. Over one-third (35.3%) of the misdiagnosed patients experienced a delay of more than one year before receiving a correct diagnosis. At presentation, 79.7% of the patients had motor, 87.5% sensory and 93.8% autonomic symptoms. Conclusion: ATTR-FAP in Brazil starts early, has a strong family history and the majority has Val30Met mutation. Misdiagnosis is common and the most common presentation is of a sensorimotor and autonomic neuropathy.


RESUMO Amiloidose ligada à transtirretina (ATTR) é caracterizada por depósito de transtirretina que forma fibrilas amiloides, que são depositadas extracelularmente dentro de tecidos e órgãos. As manifestações clínicas de polineuropatia amiloidótica familiar (ATTR-PAF) variam de acordo com a mutação, idade de início e localização geográfica. Este estudo tem como objetivo descrever as características dos pacientes com ATTR no Brasil, com base nos dados coletados no THAOS. Métodos: THAOS é um registro internacional longitudinal observacional desenhado para caracterizar ATTR. As medidas de desfecho incluíram dados demográficos (idade do início dos sintomas, gênero, tempo do início dos sintomas até diagnóstico, histórico familiar), genotipagem e características clínicas (presença de depósito amiloide, frequências de diagnósticos errôneos, sintomatologia presente). Esta analise foi conduzida com dados de pacientes brasileiros registrados no THAOS de Novembro 2008 a Janeiro de 2016. Resultado: Cento e sessenta pacientes (52,5% homens) foram incluídos na análise. Na maioria dos casos (90,6%) observou-se história familiar positiva de ATTR-FAP A idade média de inicio dos sintomas foi 32,5 anos. A mutação Val30Met foi encontrada em 91,9%. Erros diagnósticos foram observados em 26,6% dos casos sintomáticos. Aproximadamente um terço dos pacientes diagnosticados erroneamente tiveram atraso de mais de um ano para receber um diagnostico correto. No momento do diagnóstico 79,7% dos pacientes possuíam sintomas motores, 87,5% sintomas sensitivos e 93,8% sintomas autonômicos. Conclusão: No brasil a ATTR-FAP tem início precoce, historia familiar fortemente positiva e em sua maioria são portadores da mutação Val30Met. Erros diagnósticos são comuns e a apresentação mais comum é polineuropatia sensitivo-motora com disautonomia.


Subject(s)
Humans , Male , Female , Adult , Surveys and Questionnaires , Amyloid Neuropathies, Familial/diagnosis , Amyloid Neuropathies, Familial/genetics , Brazil , Age of Onset , Amyloid Neuropathies, Familial/physiopathology , Amyloid Neuropathies, Familial/pathology , Diagnostic Errors , Mutation
19.
Arq. neuropsiquiatr ; 77(2): 73-79, Feb. 2019. tab, graf
Article in English | LILACS | ID: biblio-983882

ABSTRACT

ABSTRACT Mutations of the GBA gene have been reported in patients with Parkinson's disease (PD) from a number of different countries, including Brazil. In order to confirm this pattern in a sample of PD patients from northern Brazil, we conducted a case-control study of the occurrence of the two most common mutations of the GBA gene (c.1226A>G; p.N370S and c.1448T>C; p.L444P) in a group of 81 PD patients and 81 control individuals, using PCR-RFLP, confirmed by the direct sequencing of the PCR products. In the patient group, three patients (3.7%) were heterozygous for the GBA c.1226A>G; p.N370S mutation, and three (3.7%) for GBA c.1448T>C; p.L444P Neither mutation was detected in the control group (p =0.0284). Patients with the c.1448T>C; p.L444P mutation showed a tendency to have an earlier disease onset, but a larger sample number is required to confirm this observation. Our results suggest an association between the GBA c.1226A>G; p.N370S and c.1448T>C; p.L444P mutations and the development of PD in the population of patients from the Northern Brazil.


RESUMO Mutações no gene GBA têm sido reportadas em pacientes com doença de Parkinson (DP) em diferentes países, incluindo o Brasil. Com o objetivo de confirmar esse padrão em uma amostra de pacientes com DP provenientes do Norte brasileiro, foi conduzindo esse estudo caso-controle investigando a frequência das duas mutações mais comuns do gene GBA (c.1226A>G; p.N370S e c.1448T>C; p.L444P) em um grupo de 81 pacientes com DP e 81 controles, usando PCR-RFLP e confirmado pelo sequenciamento direto de produtos de PCR. No grupo experimental, três pacientes (3,7%) foram heterozigotos para a mutação c.1226A>G; p.N370S e três (3,7%), para a mutação c.1448T>C; p.L444P Nenhuma das duas mutações foi detectada no grupo controle (p =0,0284). Pacientes com a mutação c.1448T>C; p.L444P demonstraram uma tendência a apresentar os sintomas mais precocemente, porém um número amostrai maior é necessário para confirmar essa observação. Nossos resultados sugerem uma associação entre essas duas mutações no gene GBA e o desenvolvimento de DP na população de pacientes do norte Brasileiro.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Aged, 80 and over , Parkinson Disease/genetics , Glucosylceramidase/genetics , Mutation/genetics , Polymorphism, Restriction Fragment Length , Brazil , Case-Control Studies , Polymerase Chain Reaction , Cross-Sectional Studies , Risk Factors , Age of Onset , Genetic Association Studies
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