Expanding the genetic and phenotypic relevance of CLCN4 variants in neurodevelopmental condition: 13 new patients.

OBJECTIVES: CLCN4 variations have recently been identified as a genetic cause of X-linked neurodevelopmental disorders. This study aims to broaden the phenotypic spectrum of CLCN4-related condition and correlate it with functional consequences of CLCN4 variants. METHODS: We described 13 individuals with CLCN4-related neurodevelopmental disorder. We analyzed the functional consequence of the unreported variants using heterologous expression, biochemistry, confocal fluorescent microscopy, patch-clamp electrophysiology, and minigene splicing assay. RESULTS: We identified five novel (p.R41W, p.L348V, p.G480R, p.R603W, c.1576 + 5G > A) and three known (p.T203I, p.V275M, p.A555V) pathogenic CLCN4 variants in 13 Chinese patients. The p.V275M variant is found at high frequency and seen in four unrelated individuals. All had global developmental delay (GDD)/intellectual disability (ID). Seizures were present in eight individuals, and 62.5% of them developed refractory epilepsy. Five individuals without seizures showed moderate to severe GDD/ID. Developmental delay precedes seizure onset in most patients. The variants p.R41W, p.L348V, and p.R603W compromise the anion/exchange function of ClC-4. p.R41W partially impairs ClC-3/ClC-4 association. p.G480R reduces ClC-4 expression levels and impairs the heterodimerization with ClC-3. The c.1576 + 5G > A variant causes 22 bp deletion of exon 10. CONCLUSIONS: We further define and broaden the clinical and mutational spectrum of CLCN4-related neurodevelopmental conditions. The p.V275M variant may be a potential hotspot CLCN4 variant in Chinese patients. The five novel variants cause loss of function of ClC-4. Transport dysfunction, protein instability, intracellular trafficking defect, or failure of ClC-4 to oligomerize may contribute to the pathophysiological events leading to CLCN4-related neurodevelopmental disorder.

Impacto del manejo multidisciplinario del pie diabético

Objetivo: Estudiar el efecto del manejo multidisciplinario (MMD) de úlcera de PD (UPD) en un Hospital de Chile durante el período 2017-2020. Materiales y Métodos: Estudio comparativo, observacional y retrospectivo, se analizó una base de datos disociada compuesta por 111 pacientes atendidos en el periodo 2017-2020 y se comparó con los datos de 121 pacientes con UPD atendidos en el mismo Hospital sin MMD en periodo 1998-2005. Para los estudios analíticos se usó prueba de Chi cuadrado, prueba exacta de Fisher, U de Mann Whitney y Kruskal Wallis. Resultados: La tasa de reamputaciones mayores con MMD fue de un 2,7%, el 91,2% de los pacientes atendidos con MMD lograron mejorar la condición clínica de la herida, sin embargo, en pandemia por SARCOV-2 la mejoría se redujo a un 78,2%. La tasa de cicatrización completa de la herida con MMD fue de 77,8% v/s 31,4% sin MMD (p < 0,0001) y la tasa de reamputación general sin MMD fue de 47,1% v/s 12,6% con MMD (< 0,0001). La recidiva fue de un 11,7% con MMD v/s 100% a los cuatro años sin MMD (p < 0,0001). Discusión y Conclusión: Observamos que el MMD de la UPD logra mejores tasas de efectividad de la intervención que pacientes sin MMD, mostrándose mejores tasas de cicatrización de la herida, tasa de reamputación mayor, y tasa de recidiva. Por lo tanto, un MMD podría contribuir, significativamente, al rescate de la extremidad afectada.

Objective: To assess the effect of a multidisciplinary approach on patients with diabetic foot ulcer (DFU) in a Hospital in Chile from 2017 to 2020. Material and Method: The study is observational, comparative, and retrospective. The data from 111 patients were analyzed anonymously during 2017-2020. It was compared with old data from a group of121 patients treated in the same hospital but without a multidisciplinary approach. To gather the data the Chi-square test, Fisher's exact test, the U of Mann Whitney, and the Kruskal Wallis were used. Results: It was found that the rate of major re-amputations in patients undergoing treatment with a multidisciplinary approach was 2.7%. Furthermore, 91.2% of patients treated with a multidisciplinary approach improved the clinical condition of the wound. However, During the SARCOV-2 pandemic, the improvement rate was reduced to 78.2%. The complete wound healing rate was 77.8% in patients treated with a multidisciplinary approach versus 31.4% without a multidisciplinary approach (p < 0.0001). The overall re-amputation rate on patients without a multidisciplinary approach was 47.1% versus 12.6% on patients with a multidisciplinary approach (< 0.0001). The recurrence rate was 11.7% in patients with a multidisciplinary approach versus 100% in patients without a multidisciplinary approach (p < 0.0001). Conclusion: We observed finally, we observed that a multidisciplinary approach helped the DFU patients to achieve better intervention effectiveness rates, showing better rates of wound healing, higher re-amputation rate, and recurrence rate. Therefore, a multidisciplinary approach could contribute significantly to the improvement of the affected limb.

Double Heterotopic Pregnancies with Live Intrauterine Pregnancy after Ovarian Stimulation.

Heterotopic pregnancies, although rare in natural conceptions, have increased in incidence with use of assisted reproductive techniques (ART). Double heterotopic pregnancy in addition to an intrauterine pregnancy is exceedingly rare. In this case, we present a patient who underwent ovulation induction and intrauterine insemination (IUI) and was found on ultrasound to have a live heterotopic pregnancy. Intraoperatively, both fallopian tubes were grossly swollen and engorged. Bilateral salpingectomy was performed. Pathology identified gestational products in both fallopian tubes consistent with a double heterotopic pregnancy. Postoperatively, the intrauterine pregnancy resulted in a live birth. Although double heterotopic pregnancy and an intrauterine pregnancy is exceedingly rare, this case emphasizes the importance of routinely inspecting the contralateral fallopian tube at the time of surgery for an ectopic pregnancy, particularly in patients undergoing ovulation induction.

Predictores de dolor anterior de rodilla en pacientes operados de artroplastia total de rodilla sin reemplazo patelar / Predictors of anterior knee pain in patients operated of arthroplasty total knee without patellar replacement

Osteoarthrosis of the knee is one of the most important causes of disability around the world, being total knee arthroplasty (TKA) a cost-effective surgical procedure for treating its severe stage when all knee compartments are compromised. Despite the good functional results and good survival of the implants and of the patients, still, 15 to 20% of the patients are dissatisfied after surgery. One of the causes of dissatisfaction is persistent pain located in the anterior part of the knee, which leads to controversy over whether to perform the patellar replacement. Advantages and complications are described in both scenarios, and neither is superior to the other in pain and implant survival. In the case of TKA without patellar replacement, the position of the femoral component plays a crucial role in achieving normal patellar tracking. The current challenge is to determine those clinical and radiological variables that allow us to predict the absence of long-term anterior pain in patients who require TKA and who do not undergo patellar replacement. (AU)

Regulation of telomere homeostasis and genomic stability in cancer by N 6-adenosine methylation (m6A).

The role of RNA methylation on N 6-adenosine (m6A) in cancer has been acknowledged, but the underlying mechanisms remain obscure. Here, we identified homeobox containing 1 (HMBOX1) as an authentic target mRNA of m6A machinery, which is highly methylated in malignant cells compared to the normal counterparts and subject to expedited degradation upon the modification. m6A-mediated down-regulation of HMBOX1 causes telomere dysfunction and inactivation of p53 signaling, which leads to chromosome abnormalities and aggressive phenotypes. CRISPR-based, m6A-editing tools further prove that the methyl groups on HMBOX1 per se contribute to the generation of altered cancer genome. In multiple types of human cancers, expression of the RNA methyltransferase METTL3 is negatively correlated with the telomere length but favorably with fractions of altered cancer genome, whereas HMBOX1 mRNA levels show the opposite patterns. Our work suggests that the cancer-driving genomic alterations may potentially be fixed by rectifying particular epitranscriptomic program.

MRI estimated changes in visceral adipose tissue and liver fat fraction in patients with obesity during a very low-calorie-ketogenic diet compared to a standard low-calorie diet.

AIM: To compare the changes in visceral adipose tissue (VAT), liver fat fraction, and liver stiffness using quantitative magnetic resonance imaging (MRI) during a very-low-calorie ketogenic (VLCK) diet and a standard low-calorie diet (LC). MATERIALS AND METHODS: The study involved secondary analysis of prospective collected clinical data. Patients undergoing weight loss interventions were randomised to either a LC or a VLCK diet. VAT, liver fat fraction, and stiffness were measured at baseline and after 2 months. RESULTS: Forty-six patients were included; 39 patients were evaluated at baseline and at 2 months follow-up. Mean weight loss was -9.7±3.8 kg (interquartile range [IQR]: -12.3; -7 kg) in the VLCK group and -1.67±2.2 kg (IQR: -3.3, -0.1 kg) in the LC group (p<0.0001). Mean VAT reductions were -39.3±40 cm2 (IQR: -52, -10 cm2) and -12.5±38.3 cm2 (IQR: -29, 5 cm2; p=0.0398), and mean liver proton density fat fraction (PDFF) reductions were -4.77±4.2% (IQR: -7.3, -1.7%) and -0.79±1.7%, (IQR: -1.8, -0.4%; p<0.005) in the VLCK group and in the LC group, respectively. No significant changes in liver stiffness occurred from baseline to follow-up. CONCLUSION: A VLCK diet resulted in greater weight loss than a standard low-calorie diet and in significantly greater reduction in liver PDFF. As anthropometric measurements may not correlate with liver fat changes, it may be advantageous to include quantitative MRI to the monitoring strategies of patients undergoing weight-loss programmes.

Microdeletion 22q11.2 syndrome: Does thymus incidental surgical resection affect its immunological profile?

BACKGROUND: The del22q11 syndrome patients present immunological abnormalities associated to thymus alterations. Up to 75% of them present cardiopathies and thymus is frequently removed during surgery. The thymectomy per se has a deleterious effect concerning lymphocyte subpopulations, and T cell function. When compared to healthy controls, these patients have higher infections propensity of variable severity. The factors behind these variations are unknown. We compared immunological profiles of del22q11.2 Syndrome patients with and without thymectomy to establish its effect in the immune profile. METHODS: Forty-six del22q11.2 syndrome patients from 1 to 16 years old, 19 of them with partial or total thymectomy were included. Heart disease type, heart surgery, infections events and thymus resection were identified. Immunoglobulin levels, flow cytometry for lymphocytes subpopulations and TREC levels were determined, and statistical analyses were performed. RESULTS: The thymectomy group had a lower lymphocyte index, both regarding total cell count and when comparing age-adjusted Z scores. Also, CD3+, CD4+ and CD8+ lower levels were observed in this group, the lowest count in those patients who had undergone thymus resection during the first year of life. Their TREC level median was 23.6/µL vs 16.1µL in the non-thymus group (p=0.22). No differences were identified regarding immunoglobulin levels or infection events frequencies over the previous year. CONCLUSION: Patients with del22q11.2 syndrome subjected to thymus resection present lower lymphocyte and TREC indexes when compared to patients without thymectomy. This situation may be influenced by the age at the surgery and the time elapsed since the procedure.

Fibroadenoma vulvar: a propósito de un caso clínico / Vulvar fibroadenoma: about a clinical case

RESUMEN El fibroadenoma vulvar es un tumor benigno poco frecuente con muy pocos casos descritos en la literatura. Por lo general, se diagnostica entre los 20 y 70 años. Tiene un buen pronóstico y rara vez recurre después de la escisión. Presentamos un caso de fibroadenoma vulvar, en una mujer de 33 años, manifestado como un tumor localizado, bien definido de partes blandas en el labio mayor izquierdo. La lesión fue extirpada completamente y la histología confirmó un fibroadenoma con marcador de estrógeno positivo.

ABSTRACT Vulvar fibroadenoma is a rare benign tumor with few cases reported in the literature. It usually occurs between 20 and 70 years of age. It has a good prognosis and rarely recurs following excision. We present a case of vulvar fibroadenoma as a localized, well-defined soft tissue mass in the left labium majus of a 33-year-old woman. The mass was excised completely, and histology demonstrated a fibroadenoma positive for estrogen receptor.

Tiroidectomía en polineuropatía desmielinizante aguda para paciente con enfermedad de Graves: a propósito de un caso / Thyroidectomy in acute demyelinating polyneuropathy for a patient with Graves' disease: a case report

RESUMEN Existen pocos estudios que describan las complicaciones neuromusculares del hipertiroidismo. Presentamos el caso de una mujer de 36 años con antecedente de enfermedad de Graves en manejo médico, quien presentó compromiso motor y sensitivo progresivo en extremidades inferiores hasta comprometer la marcha. La electromiografía fue compatible con polineuropatía desmielinizante aguda, la resonancia nuclear magnética sugirió síndrome de Guillain-Barré. Se proporcionó manejo con plasmaféresis y se ajustó tratamiento tiroideo presentando mejoría transitoria. Posteriormente presentó deterioro neurológico con debilidad ascendente y compromiso deglutorio; a pesar de inicio de ciclo de inmunoglobulina persistió empeoramiento clínico con requerimiento de soporte ventilatorio; se decidió realizar tiroidectomía, que resultó en mejoría clínica y resolución del cuadro.

ABSTRACT There are few studies that describe the neuromuscular complications of hyperthyroidism. We present the case of a 36-year-old woman with a history of Graves' disease in medical management, who presented motor and sensitive involvement in the lower limbs until compromising gait. Electromyography was compatible with acute demyelinating polyneuropathy, nuclear magnetic resonance suggested Guillain-Barré syndrome. Management with plasmapheresis was indicated, and thyroid therapy was adjusted with transient improvement. Subsequently, she presented neurological deterioration with ascending weakness and swallowing compromise; despite an immunoglobulin cycle regimen, clinical worsening persisted with the requirement of ventilatory support; thyroidectomy was performed resulting in clinical improvement and resolution of the condition.

[Prevalence and risk factors for periventricular leukomalacia in preterm infants. A systematic review]. / Prevalencia y factores de riesgo de leucomalacia periventricular en recien nacidos prematuros. Revision sistematica.

INTRODUCTION: There is a huge disparity in the description of the prevalence and risk factors of periventricular leukomalacia in preterm infants. AIMS: To describe and compare, through a systematic review of the literature, the prevalence of periventricular leukomalacia in preterm infants, as well as to determine the main risk factors associated with its presentation. SUBJECTS AND METHODS: A systematic review was conducted consulting multiple databases of the last 20 years. The search terms were: periventricular leukomalacia, prevalence, risk factors and premature birth. We included all studies that mention or led to the prevalence of periventricular leukomalacia and those that referred to its risk factors. RESULTS: Of the 209 studies identified, we selected 107 studies in which the prevalence of periventricular leukomalacia was mentioned or the risk factors were described. A stratified analysis was performed for the diagnostic technique and gestational age, in addition to a narrative synthesis. Ultrasound detected a prevalence of 14.7% and magnetic resonance of 32.8%. Prevalence in children under 28 weeks was 39.6%; 27.4% in children under 32 weeks and 7.3% in children under 37 weeks. Risk factors include gestational age, intrauterine infection, premature rupture of membranes and chorioamnionitis. CONCLUSIONS: The prevalence of periventricular leukomalacia in preterm infants is heterogeneous, increases according to the degree of prematurity and is better detected by magnetic resonance. There are multiple factors related to its presentation, the main factor is gestational age.

TITLE: Prevalencia y factores de riesgo de leucomalacia periventricular en recien nacidos prematuros. Revision sistematica.Introduccion. Existe una enorme disparidad en cuanto a la descripcion de la prevalencia y los factores de riesgo de la leucomalacia ventricular en los prematuros. Objetivos. Describir y comparar, a traves de una revision sistematica de la bibliografia, la prevalencia y los factores de riesgo de la leucomalacia periventricular en los prematuros. Sujetos y metodos. Se realizo una revision sistematica consultando multiples bases de datos de los ultimos 20 anos. Los terminos de busqueda fueron: leucomalacia periventricular, prevalencia, factores de riesgo y recien nacidos prematuros. Se incluyeron todos los estudios que senalaran o condujeran a la obtencion de la prevalencia de la leucomalacia periventricular y los que hicieran referencia a sus factores de riesgo. Resultados. Se seleccionaron 107 estudios en los que se menciono o condujo a la obtencion de la prevalencia de la leucomalacia periventricular o en los que se describian los factores de riesgo. Se efectuo un analisis estratificado para la tecnica de diagnostico y la edad gestacional, ademas de una sintesis narrativa. Ecograficamente se detecto una prevalencia del 14,7%, y con resonancia magnetica, del 32,8%. La prevalencia en menores de 28 semanas fue del 39,6%; en menores de 32 semanas, del 27,4%; y en menores de 37 semanas, del 7,3%. Entre los factores de riesgo destacan la edad gestacional, infeccion intrauterina, ruptura prematura de membranas y corioamnionitis. Conclusiones. La prevalencia de la leucomalacia periventricular en prematuros es heterogenea, aumenta segun el grado de prematuridad y se detecta mejor con resonancia magnetica; existen multiples factores relacionados con su presentacion, y el principal es la edad gestacional.

Cladosporium cladosporioides and Cladosporium pseudocladosporioides as potential new fungal antagonists of Puccinia horiana Henn., the causal agent of chrysanthemum white rust.

Puccinia horiana Hennings, the causal agent of chrysanthemum white rust, is a worldwide quarantine organism and one of the most important fungal pathogens of Chrysanthemum × morifolium cultivars, which are used for cut flowers and as potted plants in commercial production regions of the world. It was previously reported to be controlled by Lecanicillium lecanii, Cladosporium sphaerospermum, C. uredinicola and Aphanocladium album, due to their antagonistic and hyperparasitic effects. We report novel antagonist species on Puccinia horiana. Fungi isolated from rust pustules in a commercial greenhouse from Villa Guerrero, México, were identified as Cladosporium cladosporioides and Cladosporium pseudocladosporioides based upon molecular analysis and morphological characters. The antagonism of C. cladosporioides and C. pseudocladosporioides on chrysanthemum white rust was studied using light and electron microscopy in vitro at the host/parasite interface. Cladosporium cladosporioides and C. pseudocladosporioides grew towards the white rust teliospores and colonized the sporogenous cells, but no direct penetration of teliospores was observed; however, the structure and cytoplasm of teliospores were altered. The two Cladosporium spp. were able to grow on media containing laminarin, but not when chitin was used as the sole carbon source; these results suggest that they are able to produce glucanases. Results from the study indicate that both Cladosporium species had potential as biological control agents of chrysanthemum white rust.

Carcinoma epidermoide de cuello uterino con extensión superficial a endometrio / Squamous cell carcinoma of the cervix with superficial extension to the endometrium

El cáncer de cuello uterino es la neoplasia más frecuente del tracto genital femenino, que en su forma avanzada puede invadir localmente a tejido paracervical, vagina, vejiga y recto. Se presenta un caso, muy poco frecuente, de carcinoma cervical con extensión endometrial como neoplasia in situ, en una paciente de 76 años y que se manifestó clínicamente como piometra.

Cervical cancer is the most common malignant tumor of the female genital tract, which in its advanced stage can invade locally paracervical tissue, vagina, bladder and rectum. A case extremely rarely is reported of cervical carcinoma with in situ carcinoma involving to endometrium in a patient of 76 years old and clinically manifested as pyometra.

Articulando la academia con la intervención comunitaria en salud mental: experiencia desde una terapia ocupacional social / Articulating the academy with community intervention in mental health: the experience from a socialoccupational therapy

Este documento sistematiza la experiencia desarrollada por el equipo docente de la escuela de Terapia Ocupacional, los estudiantes y los equipos de salud mental del Servicio de Salud Talcahuano, en los cuales se han instalado Terapeutas Ocupacionales para desarrollar funciones docentes asistenciales, en el marco de un convenio Marco entre ambas instituciones. Desde una epistemología socioconstruccionista, se presentan los fundamentos de una Terapia Ocupacional Social, al mismo tiempo, se describe una metodología de trabajo, basada en un instrumento para la intervención social, denominado Diagnóstico situacional. En este caso aplicado al campo de la salud mental, desde la Terapia Ocupacional (TO) Social. La experiencia otorga una visión compleja sobre los desafíos que se presentan en el ejercicio de la Terapia Ocupacional Social, rescatando los elementos éticos-políticos de esta perspectiva y su materialización, en consideración a los diversos actores e intereses involucrados en la construcción y configuración de los problemas que los sujetos de intervención, equipos de trabajo y estudiantes deben enfrentar. Se concluye con algunos de los principales logros y metas alcanzados con esta propuesta, destacando la posibilidad de encontrar espacios de transformación social, cuando se articulan adecuadamente las miradas de los actores...

This document systematizes the experience developed by the faculty of the School of Occupational Therapy, students and mental health teams Talcahuano Health Service, in which are installed care Occupational Therapists to develop teaching duties as part of a Framework agreement between the two institutions. From a social constructionist epistemology, the foundations of Occupational Therapy Social occur at the same time, a methodology, based on an instrument for social intervention, called Situational diagnosis is described. In this case applied to the field of mental health, since the Occupational Therapy (OT) Social. The experience gives a complex insight into the challenges that arise in the exercise of Social Occupational Therapy, rescuing this ethical-political perspective and its realization, considering the various actors and interests involved in the construction and configuration of the elements problems that subjects intervention teams and students must face. It concludes with some major accomplishments and goals achieved with this proposal, noting the possibility of finding spaces for social transformation, when the eyes of the actors adequately articulated...

Análisis preliminares de la versión adaptada en población chilena de la escala de adherencia terapéutica en diabetes mellitus tipo 2 - EATDM-III / Psychometric properties of the diabetes mellitus 2 treatment adherence scale version III (EATDM-III) adapted for Chilean patients

Background: The Diabetes Mellitus 2 treatment adherence scale version III (EATDM-III) was devised in Costa Rica. Its seven factors are family support, community organization and support, physical exercise, medical control, hygiene and self-care and assessment of physical condition. Aim: To assess the psychometric properties of the scale in Chilean patients. Material and Methods: The results of the EATDM-III scale, applied to 274 patients with Diabetes Mellitus 2 aged 59 ± 11 years (59% women), were analyzed. Reliability, item, exploratory and confirmatory factorial analyses were carried out both in the initial and the proposed model. Results: We propose a version of 30 items grouped in six dimensions, improving the fit indices obtained with the original scale. The review of item factor loadings shows that all are appropriate both in magnitude and statistical significance, with values between 0.46 and 0.93. Internal consistency measured by Cronbach s alpha, was 0.85 for the total scale. Conclusions: The adapted EATDM-III scale is reliable and can be used to assess treatment adherence in Chilean patients.

Asociación entre diastematomielia y meduloepitelioma: reporte de un caso y revisión de la literatura / Association between diastematomyelia and medullo epithelioma: case report and literature review

Aim: Case report of association between diastematomyelia and medulloepithelioma. Method: 14-year-old patient with lower back pain and recent neurological deficit in extremities. CT and MRI scans of the thoracolumbar spine revealed a diastematomyelia. Intraoperative examination confirmed the presence of a spinal dysraphism and associated tumor, which was almost completely resected. Result: Histopathological and immunohistochemical findings were consistent with medulloepithelioma. Her postoperative course was uneventful. Conclusion: Diastematomyelia may manifest during adolescence as lower back pain and neurological deficit. The association of this malformation with a neoplasia is extremely rare; the present case describes concomitance with medulloepithelioma.

Reporte de un caso de asociación de diastematomielia y meduloepitelioma. Método: Paciente de 14 años con dolor lumbar y déficit neurológico en extremidades de reciente instalación. En TAC y RNM de columna dorsolumbar se pesquisa una diastematomielia. La exploración intraoperatoria, comprueba la presencia de una disrafia espinal y un tumor asociado al defecto, que se reseca casi en su totalidad. Resultado: Los hallazgos histopatológicos e inmunohistoquímicos son concordante con meduloepitelioma. La paciente tuvo un postoperatorio satisfactorio. Conclusión: La diastematomielia se puede manifestar durante la adolescencia como dolor lumbar y déficit neurológico. La asociación de esta malformación, con una neoplasia es muy poco frecuente, el presente caso describe la concomitancia con un meduloepitelioma.

Síndrome de Guillain Barré asociado a enfermedadde Graves: rol de la plasmaféresis en la patologíatiroidea autoinmune / Guillain Barré syndrome associated with Graves disease: the role of plasmapheresis in autoimmune thyroid disease

Mujer de 36 anos ˜que ingresa en el servicio de urgencias por paresia en miembros inferiores,asociada a diarrea y dolor abdominal en los 10 días previos. Al examen neurológico seencuentra fuerza proximal 4/5 y distal 3/5 en todos los grupos musculares, con hiporreflexiaen miembro inferior izquierdo. La electromiografía reporta neuropatía motora desmielinizante,de predominio en miembros inferiores, confirmando la sospecha diagnóstica deGuillain Barré. Durante la hospitalización la paciente presenta niveles suprimidos de TSH,T4 libre elevada con un incremento de la captación tiroidea con Tc-99m pertecnetato, diagnosticandouna enfermedad de Graves asociada. Ambas enfermedades son causadas porautoinmunidad, por lo que la plasmaferésis se usó, siendo buena la respuesta en el controlde los síntomas neurológicos por Guillain Barré. Pero sin ningún control bioquímico tiroideo,cuestionando el rol de la plasmaféresis en el tratamiento de la enfermedad tiroideaautoinmune...

A 36 year old woman was seen in the emergency service due to paresis in the lower limbs,combined with diarrhea and abdominal pain in the previous ten days. The neurologicalexamination showed proximal strength 4/5 and distal strength 3/5 in all the musculargroups, with hyporeflexia in the lower left limb. The electromyography showed demyelinatingmotor neuropathy with predominance in the lower limbs, confirming Guillain-Barré...

Relación entre la presencia de tiroiditis linfocítica con la gravedad y recurrencia/persistencia del carcinoma diferenciado de tiroides / Relationship Between the Presence of Lymphocytic Thyroiditis with the Severity and Recurrence/Persistence of Differentiated Thyroid Carcinoma

Introducción: Para el sistema endocrino la neoplasia más frecuente es el cáncer diferenciado de tiroides, con un claro incremento en su incidencia. Es importante encontrar asociaciones que posteriormente permitan establecer factores de riesgo y/o protectores claves en la estrategia terapéutica futura. Por lo que se investigó la relación entre la presencia de tiroiditis linfocítica con la gravedad y persistencia/recurrencia del carcinoma diferenciado de tiroides Materiales y métodos: se hizo un estudio comparativo a través de una serie de casos de carcinoma diferenciado de tiroides llevados a cirugía entre enero de 1997 y diciembre de 2012 en una clínica especializada de nivel IV ubicada en Bogotá, Colombia. Se evaluó la asociación entre la presencia de factores clínico-patológicos y la presencia de persistencia/recurrencia usando pruebas de asociación chi cuadrado y odds ratios. Para evaluar la presencia de asociación a nivel multivariado se utilizaron modelos de regresión binaria con enlace log log complementario. Resultados: no se observó asociación estadística entre presencia de tiroiditis linfocítica y la presencia de variables de severidad clínico-patológica. Sin embargo, fue posible evidenciar asociación entre tiroiditis linfocítica con persistencia/recurrencia en presencia invasión vascular (OR 6,6 IC95% 1,4-32), invasión linfática (OR 5,4 IC95% 1,3-22,1) y compromiso ganglionar en el vaciamiento lateral (OR 58 IC95% 7,1-476) independiente de la edad y el sexo. Conclusión: Es posible que la tiroiditis linfocítica no se relacione con la presencia de marcadores de severidad clínico-patológica pero sí con una mayor persistencia/recurrencia de la enfermedad. Rev Argent Endocrinol Metab 51:169-177, 2014 Los autores declaran no poseer conflictos de interés.

Introduction: Differentiated thyroid cancer is the most common malignancy and it shows an increased incidence. It is important to find associations that may allow for identification of key risk and/or protective factors for the development of future therapeutic strategies. Thus, we investigated the relationship between the presence of lymphocytic thyroiditis with severity and persistence / recurrence. Materials and methods: We conducted a comparative study using data from patients with differentiated thyroid carcinoma who had undergone total or partial thyroidectomy between January 1997 and December 2012 at a Level IV specialized institution located in Bogotá, Colombia. We evaluated the association between the presence of clinical and pathological factors and the presence of persistence/recurrence using chi-square tests and OR. For multivariate analysis a binary regression model with complementary log-log link was used. Results: No statistically significant relationship was observed between lymphocytic thyroiditis and the presence of clinical-pathological severity factors. However, lymphocytic thyroiditis was associated with persistence / recurrence in the presence of vascular invasion (OR 6.6 95 % CI 1.4-32), lymphatic invasion (OR 5.4 95 % CI 1.3-22.1) and positive lateral neck nodes (OR 58 95 % CI 7.1-476), independently of gender and age. Conclusion: Lymphocytic thyroiditis may not be associated with the presence of markers of clinical-pathological factors but it is effectively associated with a higher persistence/recurrence of disease. Argent Endocrinol Metab 51:169-177, 2014 No financial conflicts of interest exist.

Síndrome de calcificación cerebral asociado a hipoparatiroidismo / Cerebral calcification syndrome associated with hypoparathyroidism

Las calcificaciones cerebrales agrupan diversas entidades patológicas que frecuentemente han sido referidas como enfermedad de Fahr. Estas tienen una presentación clínica variada, desde el curso subclínico hasta manifestaciones motoras convulsivas e inclusive demenciales. Se presenta el caso de una mujer de 46 años con una crisis epiléptica convulsiva generalizada, asociada a calcificaciones difusas por hipoparatiroidismo postquirúrgico, en quien se inicia reposición de calcio, logrando resolución del cuadro convulsivo. Este reporte destaca el abordaje fisiopatológico de las calcificaciones cerebrales por hipoparatiroidismo, la importancia de una definición más general de cómo sería el síndrome de calcificación cerebral teniendo en cuenta las diferentes entidades patológicas conocidas asociadas con diferente espectro clínico y, por último, pone en evidencia la carencia de investigaciones sobre el tema.

Brain calcifications group diverse pathological entities that have often been referred to as Fahr disease. These have a clinical presentation which varies from subclinical course to several motor manifestations and dementia. We report the case of a 46 year old woman with generalized seizures associated with diffuse calcifications on postoperative hypoparathyroidism in whom calcium supplementation starts achieving resolution of the symptoms. This report highlights the pathophysiological approach by hypoparathyroidism brain calcifications, the importance of a general definition as in the brain calcification syndrome considering different known disease entities associated with different clinical spectrum and, finally, demonstrates the lack of research on the subject.

Evaluación de la función ejecutiva en una población escolar con síntomas de déficit de atención e hiperactividad / Evaluating executive function in schoolchildren with symptoms of attention deficit hyperactivity disorder

Objetivo: Determinar las alteraciones de las funciones ejecutivas (FE) en niños con trastorno por déficit de atención e hiperactividad (TDAH). Sujetos y métodos: Se realizó un estudio de casos y controles con una muestra de estudiantes de colegios de Bogotá, Colombia, pertenecientes a los estratos socioeconómicos bajos. El diagnóstico de TDAH se realizó con la lista de chequeo del DSM IV y la escala multidimensional de BASC. Se descartaron los niños que presentaban trastornos cognitivos. Se evaluó el desempeño en 6 medidas de funciones ejecutivas. Se realizaron un análisis bivariado entre variables, un estudio multivariado controlado por sexo y edad, y una regresión logística condicional. Resultados: Se estudió a 119 niños con síntomas de TDAH y 85 controles con edades comprendidas entre 6 y 13 años. Cuando se controlaron por sexo, edad y tipo de colegio, los niños con TDAH tuvieron un mayor compromiso que los controles en las medidas de FE correspondientes a fluidez verbal y gráfica, figura compleja de Rey-Osterrieth y flexibilidad cognitiva. Cuando se compararon los subgrupos de TDAH, no hubo diferencias entre el grupo mixto con el general. Los casos con inatención sola e hiperactividad-impulsividad sola presentaron dificultades en fluidez gráfica. Conclusiones: Los niños con síntomas de TDAH presentan mayores problemas en medidas de las FE especialmente en planeación, inhibición, memoria de trabajo y control cognitivo. Parece existir posiblemente una heterogeneidad entre el trastorno de las FE respecto del sexo y la edad (AU)

Objective: To identify impairment of executive functions (EF) in children with attention deficit hyperactivity disorder (ADHD). Subjects and methods: A case-control study was performed on a sample of schoolchildren with low socioeconomic levels in Bogota, Colombia. ADHD was diagnosed using the DSM IV checklist and the Behavior Assessment System for Children scale. Children with cognitive deficits were excluded. We evaluated scores from six measurements of executive function (EF). We conducted a bivariate statistical analysis to compare the variables, a multivariate study controlled by sex and age, and a logistic regression analysis. Results: The study sample included 119 children with ADHD and 85 controls, all aged between 6 and 12 years. Controlling by sex, age, and type of school showed that EF measurements in children with ADHD were significantly more impaired than in controls, especially for measurements of verbal and graphic fluency, Rey-Osterrieth Complex Figure, and cognitive flexibility. Comparison of ADHD subgroups showed that results in children with multiple deficits were similar to those in the global ADHD group. Graphic fluency impairment was the sole impairment in cases with only attention deficit or only hyperactivity-impulsivity manifestations. Conclusions: EF measures in children with ADHD revealed more problems, particularly those having to do within planning, inhibition, working memory and cognitive control. Age and sex may affect the degree of EF impairment (AU)