El difícil camino al diagnóstico del paciente con atrofia muscular espinal / The difficult path to diagnosis of the patient with spinal muscular atrophy

Introducción. Con las nuevas terapias, el diagnóstico temprano de la atrofia muscular espinal (AME) es esencial. El objetivo de este estudio es analizar los distintos componentes que influyen en el retraso diagnóstico. Población y métodos. Se incluyeron pacientes con un diagnóstico molecular de AME tipo I, II y III. Se estudiaron varios parámetros, como la edad al momento de la aparición del primer signo, qué signo fue y el intervalo entre este y el diagnóstico confirmado. Neurólogos especialistas realizaron entrevistas que se complementaron con la revisión de historias clínicas cuando fue necesario. Resultados. Se entrevistaron 112 pacientes. AME I n = 40, AME II n = 48, AME III n = 24. La mediana de edad en meses al momento del reporte del primer signo fue AME I: 1,5 (R 0-7), AME II: 9 (R 2-20), AME III: 18 (R 8-180). Los primeros signos fueron reconocidos por los padres en el 75 % al 85 % de las veces en todos los subtipos. La mediana del tiempo transcurrido entre el primer signo y la primera consulta médica fue menor a un mes en los tres tipos. La mediana de tiempo transcurrido en meses entre el primer signo y el diagnóstico molecular confirmado fue en AME I: 2 (R 0-11), en AME II: 10 (3-46) y en AME III: 31,5 (R 4-288). Conclusiones. Existe un significativo retraso en el diagnóstico de la AME relacionado fundamentalmente a la falta de sospecha clínica. La demora es menor en AME I y mayor en AME III. Otros factores incluyen deficiencias en el sistema de salud.

Introduction. News treatments, make early diagnosis of spinal muscular atrophy (SMA) critical. The objective of this study is to analyze the different factors that influence delay in diagnosis. Population and methods. Patients with a molecular diagnosis of types I, II, and III SMA were included. Several parameters were studied, such as age at onset of first sign, what sign it was, and the time from recognition of first sign to confirmed diagnosis. Neurologists specialized in SMA conducted interviews, supported by the review of medical records when deemed necessary. Results. A total of 112 patients were interviewed. SMA I n = 40, SMA II n = 48, SMA III n = 24. The median age in months at the time of reporting the first sign was SMA I: 1.5 (R: 0­7), SMA II: 9 (R: 2­20), SMA III: 18 (R: 8­180). In all subtypes, first signs were identified by parents from 75% to 85% of the times. The median time from first sign to first medical consultation was less than a month in all 3 types. The median time in months, from first sign to confirmed molecular diagnosis in SMA I was: 2 (R: 0­11), in SMA II: 10 (R: 3­46), in SMA III: 31.5 (R: 4­288). Conclusions. There is a significant delay in SMA diagnosis mainly related to the absence of clinical suspicion. The delay is shorter in SMA I and longer in SMA III. Other factors include deficiencies in the health care system.

Consumo de tabaco en pacientes hospitalizados en Clínica Alemana de Santiago de Chile / Frequency of smoking among hospitalized patients

Background: Smoking is one of the most relevant public health problems worldwide and one of the main causes of preventable premature death. In-hospital treatment and subsequent follow-up are effective in terms of cessation. Aim: To determine the frequency of smoking habits among patients hospitalized at a private clinic in Santiago. Material and Methods: Hospitalized patients were invited to answer a structured and adapted questionnaire on smoking habits. Results: The survey was answered by 294 patients (56% women). Twenty three percent of respondents were smokers. Among smokers, 50% indicated a consumption from 1 to 5 cigarettes per day, 19% smoked during the first hour after waking, and 43% lived with another smoker in their home. Eighty three percent thought about quitting and made unsuccessful attempts to quit using different strategies. Conclusions: The percentage of smokers in this group of patients is lower than that reported in the national health survey. The high proportion of respondent that are attempted to quit and failed, justifies the availability of structured quitting programs at the hospital and follow-up strategies after discharge.

Variantes citogenéticas en pacientes con síndrome de Turner diagnosticadas en un hospital de tercer nivel de atención en Ecuador / Cytogenetic variants in patients with Turner syndrome diagnosed in a third level care hospital in Ecuador

Resumen Introducción: El Síndrome de Turner (ST) es una alteración cromosómica sexual causada por la ausencia parcial o completa del cromosoma X, además de mosaicismos y otras alteraciones estructurales del cromosoma X o Y; está presente en 1 de 2500 nacidas vivas. Objetivo: Describir las variantes citogenéticas de pacientes con síndrome de Turner y evaluar su asociación con el fenotipo de presentación y la edad del diagnóstico. Método: Estudio retrospectivo de corte transversal de una serie de 82 casos de síndrome de Turner. Los cariotipos fueron realizados utilizando el medio RPMI-1640; las preparaciones de cromosomas se obtuvieron utilizando técnicas estándar y se analizaron mediante bandas GTG con una resolución de 400-450 bandas, donde se contó con 20-50 metafases para reducir la probabilidad de no detección de mosaicismo. Resultados: 45 (55.6%) fueron diagnosticadas, con monosomía clásica del cromosoma X, mientras 29 (35,8%) mostraron anomalías estructurales del cromosoma X y 7 (8,6%) se asociaron a mosaicos numéricos del cromosoma X. Solo 21 (26%) pacientes fueron diagnosticadas por debajo de los 12 años, mientras el resto 60 (74%) se detectaron entre la adolescencia y la adultez. La baja estatura fue una característica universal en todos los grupos de estudio. Conclusiones: Las fórmulas cromosómicas en el síndrome de Turner pueden ser muy variadas y tener diversas implicaciones en el fenotipo; se destaca la baja talla como un criterio clínico relevante en la sospecha clínica.

Abstract Introduction: Turner Syndrome (TS) is a sexual chromosomal alteration caused by the partial or complete absence of the X chromosome, in addition to mosaicisms and other structural alterations of the X or Y chromosome; It is present in 1 in 2,500 live births. Objective: To describe the cytogenetic variants of Turner syndrome patients and to evaluate their association with the phenotype at presentation and age at diagnosis. Methods: Retrospective cross-sectional study of a series of 82 cases of Turner syndrome. Karyotypes were performed using RPMI-1640 medium; Chromosome preparations were obtained using standard techniques and analyzed by GTG banding with a resolution of 400-450 bands where 20-50 metaphases were counted to reduce the probability of missing mosaicism. Results: 45 (55.6%) were diagnosed with classic monosomy of the X chromosome, while 29 (35.8%) showed structural abnormalities of the X chromosome and 7 (8.6%) were associated with numerical mosaics of the X chromosome. Only 21 (26%) patients were diagnosed under 12 years of age, while the rest 60 (74%) were detected between adolescence and adulthood. Short stature was a universal characteristic in all study groups. Conclusions: The chromosomal formulas in Turner syndrome can be variable and have different implications in the phenotype; short stature stands out as a relevant clinical criterion in clinical suspicion.

Nystagmus may be the first neurological sign in early stages of spinocerebellar ataxia type 3 / Nistagmo pode ser o primeiro sinal neurológico nos estágios precoces da ataxia espinocerebelar tipo 3

Abstract Background: Spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant spinocerebellar ataxia worldwide. Almost all patients with SCA3 exhibit nystagmus and/or saccades impairment. Objective: To investigate the presence of nystagmus as an early neurological manifestation, before ataxia, in some patients with SCA3 in the first six months of the disease. Methods: We evaluated a series of 155 patients with clinically and molecularly proven SCA3 between 2013 and 2020. Data regarding sex, age, age at onset, disease duration, CAG repeat expansion length, first symptom, presence of ataxia, scores on SARA and ICARS scales, and presence and characteristics of nystagmus were collected. Results: We identified seven patients with symptomatic SCA3 who presented with isolated nystagmus. In these seven individuals the age at onset ranged from 24 to 57 years, and disease duration from four to six months. Conclusions: Our study showed that nystagmus may be the first neurological sign in SCA3. This clinical observation reinforces the idea that the neurodegenerative process in SCA3 patients may start in vestibular system connections or in flocculonodular lobe. This study adds relevant information about pre-symptomatic features in SCA3 that may work as basis for a better understanding of brain degeneration and for future therapeutic clinical trials.

RESUMO Antecedentes: A ataxia espinocerebelar tipo 3 (SCA3) é a ataxia espinocerebelar de herança autossômica dominante mais comum em todo o mundo. Quase todos os pacientes com SCA3 têm nistagmo e/ou comprometimento das sácades. Objetivo: Investigar a presença de nistagmo como manifestação neurológica precoce, antes do surgimento da ataxia, em alguns pacientes com SCA3 nos primeiros seis meses de doença. Métodos: Foram avaliados 155 pacientes com diagnóstico clínico e molecular de SCA3, entre 2013 e 2020, em relação a sexo, idade, idade de início, duração da doença, expansão da repetição CAG, primeiro sintoma, presença de ataxia, pontuações nas escalas SARA e ICARS, e presença e caracterização de nistagmo. Resultados: Identificamos sete pacientes com SCA3 que apresentavam nistagmo isolado. A idade de início da doença nesses pacientes variou de 24 a 57 anos e a duração da doença variou de quatro a seis meses. Conclusões: O nosso estudo mostrou que o nistagmo pode ser o primeiro sinal neurológico na SCA3. Essa observação clínica reforça a ideia de que o processo neurodegenerativo nos pacientes com SCA3 pode se iniciar nas conexões do sistema vestibular ou no lobo floculonodular. Este estudo adiciona informações relevantes sobre características pré-sintomáticas na SCA3 e que podem servir de base para melhor entendimento da degeneração cerebral e para futuras terapias.

Risk factors for radiological hip involvement in patients with ankylosing spondylitis

SUMMARY OBJECTIVE: Our study aimed to explore the potential risk factors for radiological hip joint involvement in patients with ankylosing spondylitis (AS). METHODS: This cross-sectional convey collected the clinical data, laboratory indicators, and radiographic data of patients with AS. Radiographic hip joint involvement was defined as a Bath Ankylosing Spondylitis Radiology Hip Index (BASRI-hip) score ≥2. Multivariate logistic regression analyses were conducted to explore the potential risk factors for radiological hip involvement in patients with AS. RESULTS: Based on BASRI-hip score, all enrolled 386 patients with AS were classified as patients involving with radiological hip joint involvement (BASRI-hip ≥2; n=203) and those without it (BASRI-hip ≤1; n=183). Mean age of enrolled patients with AS were 36.7±11.9 years, and 320 (82.9%) patients were male. Mean course of disease was 10.7±8.3 years, and 349 (90.4%) patients were with a positive HLAB27. Multivariate analyses indicated that Juvenile onset (onset age ≤16 years) (odds ratio [OR]=4.159, 95% confidence interval [CI], 1.779-9.721, p<0.001), body mass index (BMI) <18.5 kg/m2 (OR=1.986, 95%CI 1.187-3.323, p=0.009), continuous nonsteroidal anti-inflammatory drug (NSAID) use (OR=0.351, 95%CI 0.155-0.794, p=0.012), and bone mass below the expected range for age (Z score ≤-2) (OR=2.791, 95%CI 1.456-5.352, p=0.002) were independently associated with radiological hip joint involvement in patients with AS. CONCLUSIONS: The potential risk factors for radiological hip joint involvement were juvenile onset, lower BMI, and bone mass below the expected range for age. Furthermore, continuous NSAID use was the protective factor for radiological hip joint involvement in these population.

Hallazgos capilaroscópicos y características clínicas en pacientes con fenómeno de Raynaud primario y secundario / Capillaroscopic findings and clinical characteristics in patients with primary and secondary Raynaud's phenomenon

Objetivos: describir hallazgos de videocapilaroscopía (VCP) en pacientes con fenómeno de Raynaud primario (FRP) y secundario (FRS); comparar características demográficas y clínicas entre ambos. Materiales y métodos: estudio observacional, analítico, transversal. Se documentaron edad, ocupación, tiempo de evolución del FR, enfermedad del tejido conectivo (ETC) y características capilaroscópicas. Las VCP se informaron como patrón normal, inespecífico o SD temprano, activo y tardío. Se realizó estadística descriptiva. Para variables categóricas se empleó Chi² o test exacto de Fisher; para variables continuas, t test o Man Whitney, considerando estadísticamente significativa p<0,05. Resultados: se realizaron 290 VCP. En pacientes con FRP (n:122), 18% (n:23) fue normal y 81% (n:99) con patrón inespecífico. En pacientes con FRS (n:168), 8% fue normal, 42% con patrón inespecífico y 51% con patrón SD (25% temprano, 44% activo, 31% tardío). Se hallaron diferencias estadísticamente significativas: tiempo de evolución de FR en meses (12 vs 36, p<0,01), VCP normal (18,85% vs 7,4%, p<0,01), patrón inespecífico (81,14% vs 41%, p<0,01) en pacientes con FRP vs. FRS. Conclusiones: en pacientes con FRS predominó el patrón SD, mientras que en aquellos con FRP fue superior el patrón normal e inespecífico. El FRS se asoció a mayor tiempo de evolución.

Objectives: to describe videocapillaroscopy (VCP) findings in patients with primary Raynaud's phenomenon (PRP) and secondary (SRP); compare demographic and clinical characteristics between both. Materials and methods: observational, analytical, cross-sectional study. Age, occupation, evolution time of RP, connective tissue disease (CTD) and capillaroscopic characteristics were documented. The VCP were reported as normal, nonspecific or early, active, and late SD pattern. Descriptive statistics were performed. Chi² or Fisher's exact test were used for categorical variables; for continuous variables t test or Man Whitney, considering statistically significant p<0.05. Results: 290 VCP were performed. In patients with PRP (n:122), 18% (n:23) were normal and 81% (n:99) non-specific. In patients with SRP (n:168), 8% were normal, 42% non-specific and 51% with SD pattern (25% early, 44% active, 31% late). We found statistically significant differences: time of evolution of RP in months (12 vs. 36, p<0.01), normal VCP (18.85% vs 7.4%, p<0.01), non-specific pattern (81.14% vs 41%, p<0.01) in patients with PRP vs SRP. Conclusions: in patients with FRS predominated the SD pattern, while in those with FRP the normal and nonspecific pattern was superior. FRS was associated with a longer evolution time.

Diabetes de inicio precoz en pacientes con fibrosis quística, a propósito de 3 casos / Early-onset diabetes in patients with cystic fibrosis, about 3 cases

INTRODUCCIÓN. La diabetes es la complicación extrapulmonar más frecuente en adultos con fibrosis quística. Existen escasas publicaciones de diabetes relacionada a la fibrosis quística en preescolares a nivel mundial. En Chile se desconoce su prevalencia. MÉTODO. Reportamos una serie de tres casos de niños con fibrosis quística (FQ) y diagnóstico de diabetes a muy temprana edad. RESULTADOS. Caso 1: Niño de 8 años, con diagnóstico de fibrosis quística a los 3 meses de vida por test de sudor y estudio genético p.Phe508del /-. Presenta hiperglicemia no cetósica desde los 6 meses de edad, con colonización traqueal de Staphylococcus Aureus (SA) y Pseudomona Aeruginosa (PA) y debut de diabetes a los 2 años 1 mes. Caso 2: Niño de 16 años, a los 7 meses de vida se diagnostica FQ por test de sudor y estudio genético p.Phe508del /-. Presenta colonización traqueal por SA y múltiples infecciones por PA. A los 5 años 7 meses se diagnostica diabetes presentando cetosis al debut. Caso 3: Niño de 13 años, con diagnóstico de FQ a los 7 meses de vida mediante test de sudor y estudio genético p.Phe508del/-. Presenta colonización traqueal por SA y múltiples infecciones por PA, se realiza diagnóstico de diabetes a los 2 años 7 meses de edad. DISCUSIÓN: La diabetes asociada a fibrosis quística es una complicación frecuente en adultos con fibrosis quística, pero puede presentarse desde edades tempranas. Se debe tener alto nivel de sospecha para el diagnóstico oportuno y óptimo manejo.

INTRODUCTION: Diabetes is the most common extra pulmonary complication in adults with cystic fibrosis (CF). There are few reports of diabetes related to (CF) in preschool children worldwide. Prevalence in Chile is unknown. MÉTODO: We report ta serie of three cases of children with CF and diagnosis of diabetes at an early age. Case 1: Boy 8 year old, CF diagnosed at the age of 3 months by sweat test and genetic study p.Phe508del/-. He presented non-ketotic hyperglycemia since he was 6 months old, with tracheal colonization of Staphylococcus Aureus (SA) and Pseudomona Aeruginosa (PA) , and diagnosis of diabetes at the age of 2 years 1 month. Case 2: Boy patient, 16 years old, with diagnosis of CF at the of age 7 months by sweat test and genetic study p.Phe508del/-. He presents tracheal colonization by SA and multiple PA infections. At the age 5 years 7 months, diabetes is diagnosed, presenting ketosis at the beginning. Case 3: Boy 13 years diagnosed with CF at the age of 7 months, presented sweat test and genetic study p.Phe508del/-. He presents tracheal colonization by SA and multiple infections. DISCUSSION: CF related diabetes is common in adults with cystic fibrosis, but it can be diagnosed in early childhood. A high level of suspicious is required for a proper and timely diagnosis

Hemosiderosis pulmonar idiopática: seguimiento de pacientes durante 25 años (1995-2019) / Idiopathic pulmonary hemosiderosis: follow-up of patients for 25 years (1995-2019)

La hemosiderosis pulmonar idiopática (HPI) es una causa de hemorragia alveolar difusa. OBJETIVO: describir la evolución de niños con HPI en nuestra institución. Se realizó una revisión retrospectiva con protocolo de seguimiento. Se reclutaron 13 pacientes, 7 hombres. Procedentes de una zona agrícola (6/13). No todos presentaron la tríada diagnóstica completa: infiltrados algodonosos (9/13), anemia (11/13), hemoptisis (9/13). Todos evidenciaron un recuento de hemosiderófagos sobre 30% en el lavado broncoalveolar. Tomografía computada de tórax: normal (5/13), patrón intersticial (5/13), vidrio esmerilado (2/13) y fibrosis (1/13). Espirometría: normal (7/13), restrictiva (4/13), obstructiva (1/13) y no efectuada (1/13). Tratamiento durante la fase aguda: bolos de metilprednisolona (7/13) o prednisona (6/13) o hidrocortisona (1/13). En la fase de mantención se administró: prednisona (13/13) más un inmunosupresor, azathioprina (12/13), hidroxicloroquina (1/13), micofenolato (1/13), más budesonida MDI (13/13). Ocho pacientes detuvieron los sangrados. Dos pacientes fallecieron y hubo cinco embarazos de curso fisiológico en 3 adolescentes. Se observó: a) diferentes modalidades de presentación que retrasaron el diagnóstico; b) gran exposición a pesticidas; c) mejor pronóstico si el diagnóstico y el tratamiento eran precoces, también en niñas adolescentes; d) la mayoría detuvo los episodios de sangrado.

Idiopathic pulmonary hemosiderosis (IPH) is a cause of diffuse alveolar hemorrhage. OBJECTIVE: to describe the evolution of children with IPH in our institution. Retrospective monitoring with a follow-up protocol was carried out. 13 patients, seven males, were recruited. From an agricultural area (6/13). Not all of patients had the complete diagnostic triad: cotton infiltrates (9/13), anemia (11/13), hemoptysis (9/13). Hemosiderin-laden macrophages counting in the bronchoalveolar lavage fluid was over 30% in all the patients. Computed chest tomography was informed as normal (5/13), interstitial pattern (5/13), ground glass (2/13) and fibrosis (1/13). Spirometry: normal (7/13), restrictive (4/13), obstructive (1/13) and not performed (1/13). Treatment during the acute phase: bolus of methylprednisolone (7/13) or prednisone (6/13) or hydrocortisone (1/13). In the maintenance phase: prednisone (13/13) plus an immunosuppressant, azathioprine (12/13), hydroxychloroquine (1/13), mycophenolate (1/13), plus budesonide MDI (13/13). Eight patients stopped the bleeding episodes. Two patients died and there were five physiological pregnancies in 3 adolescents. It was observed:(a) different modes of IPH presentation that delayed its diagnosis; (b) large exposure to pesticides; (c) prognosis improved if diagnosis and treatment were early, also in adolescent girls; (d) most of the patients stopped the bleeding episodes.

Gynecological/Obstetric Background and Rheumatoid Arthritis: A Cross-sectional Study in Brazilian Patients / Antecedentes ginecológicos/obstétricos e artrite reumatoide: Um estudo transversal em pacientes brasileiros

Abstract Objective To study a sample of rheumatoid arthritis (RA) patients for their gynecological/obstetric history and compare them to controls to determine their influences on number of pregnancies, menarche, menopause and reproductive years following RA onset. Methods This is a cross-sectional study of 122 RA patients and 126 controls. Patients and controls were questioned about age of menarche, age of menopause, number of pregnancies and abortions. Reproductive years were calculated as the difference between age at menopause and age at menarche. For comparison, we used the Mann-Whitney, unpaired t, chi-squared, and Spearman tests. The adopted significance was 5%. Results In the RA patients with disease beginning in the postmenopausal years, the period of reproductive years (age at menopause - age of menarche) showed a positive correlation with age at disease onset (rho=0.46; 95% confidence interval [CI]=0.20- 0.55 with p=0.0008). The number of pregnancies was higher in patients with postmenopausal disease onset when compared with those with premenopausal disease onset (median of 3 with interquartile range [IQR]=2-4 versus median of 2 with IQR=1-3; p=0.009), and RA patients had more pregnancies than controls (p=0.0002). Conclusion The present study shows that, in our population, the duration of reproductive years and the number of pregnancies are linked to the onset of RA.

Resumo Objetivo Estudar uma amostra de pacientes com artrite reumatoide (AR), com investigação da história ginecológica e obstétrica, comparando-a com controles, visando conhecer suas influências no número de gestações, menarcas, menopausa e anos reprodutivos no início da AR. Métodos Trata-se de um estudo transversal de 122 pacientes com AR e 126 controles. Pacientes e controles foram questionados sobre idade da menarca, idade da menopausa, número de gestações e abortos. Os anos reprodutivos foram calculados com a diferença entre a idade da menopausa e a idade da menarca. Para comparação, foram utilizados Mann Whitney, Teste t não pareados, Teste qui-quadrado e teste de Spearman. A significância adotada foi de 5%. Resultados Nas pacientes comAR e início da doença na pós-menopausa, o período de anos reprodutivos (idade da menopausa - idade da menarca) apresentou correlação positiva com a idade de início da doença (rho=0,46; intervalo de confiança de 95% [IC95%]=0,20-0,55 com p=0,0008). O número de gestações foi maior nas pacientes cominício da doença no período pós-menopausa quando comparadas às pacientes em pré-menopausa (mediana de 3 comintervalo interquartil [IIQ]=2-4 versusmediana de 2 com IIQ=1-3; p=0,009). Nas pacientes com AR, foi observado ummaior número de gestações do que no grupo controle (p=0,0002). Conclusão O presente estudo mostra que, em nossa população, a diminuição dos anos reprodutivos e o alto número de gestações estão relacionados ao surgimento da AR.

Diabetes mellitus tipo 2 de inicio en paciente joven: implicancias en la población chilena / Young-onset type 2 diabetes mellitus: implications in the chilean population

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.

Does the Presence of Clubfoot delay the Onset of Walking? / A presença do pé torto congênito atrasa o início da marcha?

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.

Uso de sustancias psicoactivas en estudiantes de escuelas secundarias de Rosario (Argentina) / Psychoactive Drugs Use Among High-School Students In Rosario (Argentina)

Resumen El consumo de Sustancias psicoactivas (SPs) es un problema de salud mundial que afecta particularmente a los adolescentes. Por lo tanto, el conocimiento del contacto que los jóvenes tienen con las SPs, permitirá el desarrollo de políticas de prevención. El objetivo del trabajo fue evaluar el contacto con SPs de estudiantes secundarios de Rosario y alrededores. Entre el 2013 y el 2016, contestaron de forma anónima un cuestionario 1064 estudiantes, observándose un aumento significativo del consumo de SPs en el año 2016. Cuando se excluyen el consumo de tabaco y alcohol (SPs legales) el porcentaje permanece constante. El aumento observado se debe al consumo de SPs tales como alcohol y tabaco. Se observó una disminución de la edad de inicio así como un cambio en los porcentajes y patrones de consumo. La SP más consumida fue el alcohol seguida de tabaco o marihuana. Los cambios observados podrían estar relacionados con las edades y los años de cursado de los estudian tes encuestados.

Abstract. Adolescence is characterized by anxiety, peer-pressure, identity search, etc. All these features contribute to experiment with Psychoactive Drugs (P.D.). P.D. use is a global health problem that has its onset during adolescence. The developing of prevention policies according to a specific population needs the knowledge of the levels and patterns of P.D. use. The goal of the present work was to evaluate P.D.'s level of contact and patterns of use among high school students in Rosario (Argentina). Between 2013 and 2016, a total of 1064 students were surveyed. The results showed that P.D. use (at least once in a lifetime) was significantly higher in 2016 compared to previous years. However, when the use of legal vs illegal P.D. was discriminated we found that such increase was due to higher use of alcohol and tobacco; while the illegal P.D. use remained constant. Moreover, in 2016 we found a decrease in the age of onset as well as a change in the patterns of P.D use. However, all these results must be analyzed taking into account intrinsic differences of the sample.

Relación entre tiempo de pesquisa de alteraciones del neurodesarrollo por parte de cuidadores y diagnóstico de TEA de alto funcionamiento / Relationship between time of detection of neurodevelopmental alterations by caregivers and diagnosis of high functioning ASD

INTRODUCCIÓN: La intervención precoz en el trastorno del espectro autista (TEA) ha demostrado ser fundamental para un mejor pronóstico a largo plazo. Se han descrito importantes latencias entre la pesquisa de sintomatología y el diagnóstico, retardando el inicio de terapia. OBJETIVO: Correlacionar el tiempo entre la pesquisa de alteración del neurodesarrollo por parte de los cuidadores y el diagnóstico de TEA. METODOLOGÍA: Estudio observacional retrospectivo de pacientes diagnosticados con TEA en el Centro de Terapia del Comportamiento. RESULTADOS: 28 pacientes (24 hombres) con diagnóstico de TEA. Mediana de edad de inicio de síntomas de 24 meses y de diagnóstico de 62,5 meses. No existe una correlación entre la edad de pesquisa de síntomas y del diagnóstico (r2=0,1). CONCLUSIONES: No hubo relación entre edad de pesquisa de síntomas por los cuidadores y diagnóstico de TEA. Este estudio refleja la necesidad de ampliar el conocimiento poblacional sobre sintomatología temprana de TEA, siendo una herramienta de salud pública para lograr el manejo precoz y mejorar el pronóstico de estos sujetos.

INTRODUCTION: Early intervention in autism spectrum disorder (ASD) has shown to be essential for better long-term prognosis. Significant delays have been described between symptom assessment and diagnosis, deferring therapy initiation. OBJECTIVE: To relate the moment of symptom detection by caregivers and the medical diagnosis of ASD. METHODOLOGY: Observational retrospective study, including patients diagnosed with ASD at a private behavioral therapy center. Results: 28 patients (24 male) with diagnosis of ASD. Median age of symptom assessment was at 24 months and of diagnosis at 62.5 months. There is no relation between the age of symptoms assessment and diagnosis (r2 = 0.1). CONCLUSIONS: There was no relationship between the age at which symptoms were detected by caregivers and medical diagnosis of ASD. This study reflects the need to increase the awareness about early symptoms of ASD, being a public health tool to achieve early management and improve the prognosis of these subjects.

Association of CYP2J2 polymorphism with susceptibility to psoriasis in Turkish population: a case-control study

Abstract Background: Cytochrome P450 2J2 is mostly expressed in extrahepatic tissues; it metabolizes arachidonic acid to epoxyeicosatrienoic acids, with various cardio protective and anti-inflammatory effects. CYP2J2 polymorphism has been identified as a risk factor for cardiovascular diseases, but its association with psoriasis remains unknown. Objective: To evaluate CYP2J2 polymorphism as a risk factor for psoriasis in the Turkish population. Methods: There were 94 patients with psoriasis and 100 age- and sex-matched healthy controls included in the study. Detailed demographic and clinical characteristics were recorded, and Psoriasis Area and Severity Index (PASI) scores were calculated for psoriasis patients. Venous blood samples were collected from all the participants and CYP2J2 50G>T (rs890293) polymorphism was analyzed using polymerase chain reaction (PCR). Results: Both T allele and TT + GT genotype frequencies were increased in psoriasis vulgaris patients compared to the control group (p = 0.024 and p = 0.029 respectively, OR = 2.82, 95% CI: 1.11-7.15) No association between CYP2J2 polymorphism and clinical features of psoriasis was identified. Study limitations: A limited number of patients were included in the study. Conclusion: CYP2J2 50G>T (rs890293) polymorphism was associated with an increased risk for PsV in the Turkish population.

Miastenia gravis: Registro de 190 casos en un centro único / Myasthenia gravis. Register of 190 cases in a single center

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.

Health-related quality of life in adults with juvenile idiopathic arthritis / Calidad de vida relacionada con la salud en pacientes adultos con artritis idiopática juvenil

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.

Personalized approach to growth hormone replacement in adults

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

The natural history of solitary post-nephrectomy kidney in a pediatric population

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.

Genetic approach in amyotrophic lateral sclerosis

The superoxide dismutase type 1 (SOD1) gene is the first responsible gene mapped in amyotrophic lateral sclerosis type 1 (ALS1), and it codes for the enzyme SOD1, the function of which is to protect against damage mediated by free radicals deriving from oxygen. Its pathophysiological mechanism in ALS1 is related to ischemia. Several molecular studies of the SOD1 gene show that point mutations are the most frequent. The most common mutations in familial cases are p.A4V, p.I113Y, p.G37R, p.D90A and p.E100G, which account for more than 80% of cases, although intronic mutations have also been described as responsible for ALS1. Sporadic cases are explained by mutations in other genes such as SETX and C9orf72. ALS1 is a complex disease with genetic heterogeneity. On the other hand, familial and sporadic cases have a different etiology, which is explained by molecular heterogeneity and multiple pathogenic mechanisms that lead to ALS1; oxidative stress and ischemia are not the only cause. In Mexico, ALS molecular genetics studies are scarce. Clinical studies show an increase in cytokines such as adipsin in cerebrospinal fluid.

Youth homicide: a study of homicide predictor factors in adolescent offenders in custody in the south of Brazil / Homicídio juvenil: fatores preditores em adolescentes privados de liberdade no sul do Brasil

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.