Phenotypic Variability in a Mexican Mestizo Family with Retinal Vasculopathy with Cerebral Leukodystrophy and TREX1 Mutation p.V235Gfs*6.

BACKGROUND: Retinal vasculopathy with cerebral leukodystrophy (RVCL) is an adult-onset, autosomal dominant disease involving microvessels of the brain and eye resulting in central nervous system degeneration with visual disturbances, stroke, motor impairment, and cognitive decline. Frameshift mutations at the C-terminus of TREX1 gene are the molecular cause of this disorder. OBJECTIVES: The objective of this study is to present the different clinical manifestations of RVCL in three-related patients and to investigate the presence of TREX1 mutation in the extended genealogy. METHODS: Multidisciplinary testing was performed in three related patients. Based on their family history, the study was extended to 34 relatives from the same small community. Neurological evaluation, sequencing of TREX1, and presymptomatic diagnosis were offered to all participants. RESULTS: The patients exhibited the heterozygous TREX1 mutation p.V235Gfs*6, but with phenotypic variability. In addition, 15 relatives were identified as pre-manifest mutation carriers. The remaining participants did not carry the mutation. CONCLUSIONS: This is the figrst report of a large Mexican genealogy with RVCL, where the same TREX1 mutation causes a variation in organ involvement and clinical progression. The early identification and follow-up of individuals at risk may help provide insights into the basis for this variability in presentation.

IgG4-Related Fibrous Thyroiditis (Riedel's Thyroiditis): A Case Report.

BACKGROUND Riedel's thyroiditis is a rare form of immunoglobulin G (IgG) 4-related invasive fibrosis of the thyroid gland; given its scarce incidence, standardized therapeutic guidelines are unavailable. Although complications are unusual, obstructive symptoms produced by the stony-hard goiter may put patients' lives at risk. The diagnosis must be biopsy-proven, and treatment consists of thyroid hormone replacement and anti-inflammatory drugs, although sometimes thyroidectomy may be required. CASE REPORT A 69-year-old woman presented with a 7-month history of progressive hypothyroidism and obstructive dysphagia. On physical examination, she had a large, stony-hard goiter. A Doppler ultrasound study revealed a massive, avascular enlargement of the thyroid gland. A computed tomography scan failed to demonstrate any extrathyroidal extension of the abnormal tissue. A Tru-Cut biopsy of the thyroid was performed. Extensive replacement of thyroid follicles by prominent bands of fibrous tissue was observed, with follicular obliteration and mild focal occlusive phlebitis. A lymphoplasmacytic infiltrate was clearly identified; no oxyphilic nor giant cells were found. On immunohistochemistry, the immunoglobulin G (IgG) 4/IgG ratio in the plasma cell infiltrate was 40%; increased serum IgG4 levels were also found, supporting the diagnosis of Riedel's thyroiditis. The patient was successfully treated with levothyroxine replacement and tamoxifen with prompt resolution of obstructive symptoms. CONCLUSIONS Fibrous thyroiditis should be considered in the differential diagnosis of primary hypothyroidism in a patient with a stony-hard goiter. Although steroids are often used as a therapeutic strategy for this disease, our patient had an excellent therapeutic response to tamoxifen, avoiding adverse effects associated with steroid therapy, the higher cost of monoclonal antibody therapy, and surgery-associated risks.

Detección de nudos críticos para la disminución del tiempo de espera en atención de prolapso de órganos pélvicos en hospital público chileno / Detecting critical knots to decrease the waiting time when caring the pelvic organ prolapse in a chilean public hospital

Resumen Introducción: El problema que se presenta en la atención de salud en los hospitales públicos es la alta cantidad de pacientes, generando un sostenido crecimiento en las listas de espera y provocando un aumento del tiempo de espera, generando un impacto negativo en los usuarios. Objetivo: Mejorar el proceso clínico de atención del prolapso de órganos pélvicos de un hospital público chileno. Metodología: Se identifican nudos críticos mediante diagramas de flujo, realizando un diagnóstico del proceso desde el ingreso del paciente hasta su alta del hospital. Resultados: Se identifican cada uno de los puntos críticos y se proponen soluciones para agilizar el proceso y con ello mejorar la atención a las usuarias, lo que en definitiva llevó a una disminución del tiempo de espera y, lo más relevante, a una disminución en la cantidad de personas en la lista de espera.

Abstract Introduction: The high number of patients is a common issue in public hospitals that causes a negative impact on the users due to the increment in the waiting lists and in the waiting time to be treated. Objective: To improve the clinical process for caring pelvic organ prolapse in a chilean public hospital. Methodology: The methodology was focused on identifying critical knots using flowcharts and diagnosing the patient's process from their admission until their discharge from the hospital. Results: Some solutions were proposed for each critical point identified so as to accelerate the process, thus improving users' health caring. As a result, the high number of people in the waiting lists and the waiting time decreased substantially.