An unusual case of early onset opsoclonus-myoclonus syndrome: Case report and literature review.

Opsoclonus-myoclonus syndrome is a rare neurological condition characterized by opsoclonus, myoclonus, ataxia, irritability, and sleep disturbances. In pediatric patients, symptoms usually start between 16 and 18 months of age; opsoclonus-myoclonus syndrome presentation in children under 6 months is rare. Approximately 50% of cases are associated with neuroblastoma. We report an early onset presentation of opsoclonus-myoclonus syndrome in a previously healthy, 3-month-old female infant. The diagnostic workup revealed no abnormalities. The patient underwent monthly cycles of dexamethasone pulses and intravenous immunoglobulin with a favorable response. After a few months, the patient presented intermittent opsoclonus before the next scheduled pulse so from the 9th cycle onwards, the intravenous immunoglobulin dose was increased to 2 g/kg. After 9 months of treatment, she was diagnosed with a latent Mycobacterium tuberculosis infection. Due to this infection, dexamethasone pulses were discontinued, and intravenous immunoglobulin treatment was maintained with clinical improvement The patient received 18 intravenous immunoglobulin cycles, leaving her with a score of one on the Mitchell-Pike scale. Developmental milestones have been attained according to age. Despite the range of therapeutic options for managing opsoclonus-myoclonus syndrome described in the literature, the efficacy of these available therapies needs to be better established. A modified upfront approach with dexamethasone and intravenous immunoglobulin could be an option in settings where rituximab is unavailable.

Differences in Exercise Capacity, Ventilatory Efficiency, and Gas Exchange between Patients with Pulmonary Arterial Hypertension and Chronic Thromboembolic Pulmonary Hypertension Residing at High Altitude.

Background: Cardiopulmonary exercise testing (CPET) assesses exercise capacity and causes of exercise limitation in patients with pulmonary hypertension (PH). At altitude, changes occur in the ventilatory pattern and a decrease in arterial oxygen pressure in healthy; these changes are increased in patients with cardiopulmonary disease. Our objective was to compare the response to exercise and gas exchange between patients with pulmonary arterial hypertension (PAH) and chronic thromboembolic pulmonary hypertension (CTEPH) residing at the altitude of Bogotá (2640 m). Methods: All patients performed an incremental CPET with measurement of oxygen consumption ( VO 2 ), dead space (VD/VT), ventilatory equivalents (VE/ VCO 2 ), and alveolar-arterial oxygen gradient ( PA-aO 2 ). X 2 test and one-way analysis of variance were used for comparisons between PAH and CTEPH. Results: We included 53 patients, 29 with PAH, 24 with CTEPH, and 102 controls as a reference of the normal response to exercise at altitude. CTEPH patients had a higher New York Health Association (NYHA) functional class than PAH (p = 0.037). There were no differences between patients with PAH and CTEPH in hemodynamics and VO 2 % of predicted (67.8 ± 18.7 vs. 66.0 ± 19.8, p < 0.05), but those with CTEPH had higher dyspnea, VD/VT (0.36 ± 0.09 vs. 0.23 ± 0.9, p < 0.001), VE/ VCO 2 (45.8 ± 7.1 vs. 39.3 ± 5.6, p < 0.001), and PA-aO 2 (19.9 ± 7.6 vs. 13.5 ± 7.6, p < 0.001) than PAH patients. Conclusions: At altitude, patients with PH present severe alterations in gas exchange during exercise. There were no differences in exercise capacity between PAH and CTEPH, but patients with CTEPH had more dyspnea and greater alterations in gas exchange during exercise. CPET made it possible to identify alterations related to the pathophysiology of CTEPH that could explain the functional class and dyspnea in these patients.

Pharmacological Management and Potentially Inappropriate Prescriptions for Patients with Acne.

Objective: Acne is a chronic inflammatory disease that involves the pilosebaceous follicle. Its pharmacological treatment involves topical and systemic medications, but a heterogeneous group of drugs may exacerbate or induce skin lesions. The aim of this study was to identify the pharmacological management and medications related to the exacerbation of skin lesions in patients diagnosed with acne. Methods: This was a cross-sectional study that identified the outpatient medication prescription patterns of patients with acne from a dispensing database of 8.5 million members of the Colombian Health System. Sociodemographic and pharmacological variables and the identification of prescriptions that were potentially inappropriate due to the risk of worsening acne were considered. Results: A total of 21,604 patients with acne were identified. Median age was 20.8 years (interquartile range: 17.3-27.3 years), and 60.7 percent were female. Treatment mainly involved antibiotics (79.9% of patients), especially doxycycline (66.0%), and retinoids (55.7%). A total of 17.2 percent of patients had potentially inappropriate prescriptions, predominantly progestogens with androgenic properties (8.9%). Female patients (odds ratio [OR]: 3.55; 95% confidence interval [CI]:3.24-3.90) and patients with pathologies such as systemic lupus erythematosus (OR: 18.61; 95% CI: 7.23-47.93) and rheumatoid arthritis (OR: 10.80; 95% CI: 5.02-23.23) were more likely to receive inappropriate prescriptions, and the risk increased with each year of life (OR: 1.02; 95% CI: 1.02-1.03). Limitations: Access to medical records was not obtained to verify clinical characteristics of acne. Conclusion: Patients with acne are excessively treated with systemic antibiotics, counter to clinical practice guidelines. Approximately one-fifth of these patients received some potentially inappropriate medication that could exacerbate their skin lesions.

Pattern of prescription drugs used for patients diagnosed with systemic vasculitis / Patrón de prescripción de medicamentos utilizados en pacientes con diagnóstico de vasculitis sistémicas

ABSTRACT Introduction: Vasculitis is a heterogeneous group of diseases characterized by inflammation of the blood vessel wall, which can cause thrombosis, stenosis, or occlusion. Its pharmacological management involves corticosteroids and conventional and biological disease-modifying antirheumatic drugs. Objectives: The objective was to determine the different types of systemic vasculitis and their pharmacological treatment in a group of patients from Colombia, 2019-2020. Materials and methods: This was a cross-sectional study that identified different types of systemic vasculitis and their pharmacological management in a group of patients from a drug-dispensing database of approximately 8.5 million people. Sociodemographic, comorbidity and pharmacological variables were considered. A descriptive analysis was performed. Results: A total of 621 patients with a diagnosis of systemic vasculitis were identified. The patients had a median age of 55.0 years, and 74.4% were women. The most common vasculitis types were those limited to the skin (30.1%), granulomatosis with polyangiitis (17.6%), and necrotizing vasculopathy (10.8%). A total of 81.0% of cases received corticosteroid prescriptions, 44.0% received azathioprine, and 24.0% received methotrexate; only 1.6% were prescribed biological antirheumatic drugs. Cardiovascular diseases were the most common comorbidity. Conclusions: The pattern of prescription medications used for patients diagnosed with systemic vasculitis is heterogeneous. Much of this population has associated comorbidities, which increases the use of medications according to the current management guidelines.

RESUMEN Introducción: Las vasculitis son un grupo heterogéneo de enfermedades caracterizadas por la inflamación de la pared de los vasos sanguíneos, lo cual puede llegar a ocasionar trombosis, estenosis u oclusión. Su manejo farmacológico incluye corticoesteroides, antirreumáticos modificadores de enfermedad convencionales y biológicos. Objetivos: El objetivo de este estudio fue determinar los diferentes tipos de vasculitis sistémicas y su tratamiento farmacológico en un grupo de pacientes de Colombia. Materiales y métodos: Se trató de un estudio de corte transversal que identificó los diferentes tipos de vasculitis sistémicas y su manejo farmacológico en un grupo de pacientes, a partir de una base de datos de dispensación de medicamentos de aproximadamente 8,5 millones de personas. Se consideraron variables sociodemográficas, comorbilidades y variables farmacológicas, y se hizo un análisis descriptivo. Resultados: Se identificaron 621 pacientes con diagnóstico de vasculitis sistémicas, con una mediana de edad de 55,0 anos, el 74,4% mujeres, siendo las vasculitis más frecuentes las limitadas a la piel (30,1%), la granulomatosis con poliangeitis (17,6%) y la vasculopatía necrosante (10,8%). El 81,0% de los casos recibió corticoesteroides, el 44,0% azatioprina y el 24,0 metotrexate, mientras que solo el 1,6% tenía prescritos antirreumáticos biológicos. Las comorbilidades cardiovasculares fueron las más comunes. Conclusiones: El patrón de prescripción de medicamentos utilizados en pacientes con diagnóstico de vasculitis sistémicas es heterogéneo y acorde con las guías actuales de manejo. Gran parte de esta población cursa con comorbilidades asociadas, lo cual incrementa el uso de medicamentos.

Alteraciones Provocadas por el SARS-CoV-2 durante el 2020: Una Mirada a sus Secuelas. Revisión Narrativa / Alterations Caused by SARS-CoV-2 during 2020: A Look at its Aftermath. Narrative Review

Introducción. El 11 de marzo del 2020, la OMS declaró a la COVID-19 como pandemia. Hoy se han establecido diversas secuelas posteriores a la fase aguda por infección por SARS-CoV-2, y diversos autores han mostrado que esta enfermedad persiste en un gran número de personas luego de la fase aguda. Objetivo. Identificar y describir las características previas de pacientes que presentan secuelas post infección por COVID-19. Métodos. Se realizaron 2 búsquedas bibliográficas en diferentes bases de datos, donde se seleccionaron 15 artículos en total según criterios de inclusión y exclusión. Se hizo un análisis cualitativo de las referencias y fueron separadas según tipo de secuela reportada. Resultados. Dentro de las características demográficas de las personas que presentaron secuelas post infección por COVID-19 se encuentran la edad, sexo, comorbilidades preexistentes y, en algunos casos, el IMC. Dentro de las características clínicas se incluye la sintomatología presente en fase aguda, estado de gravedad, tiempo de estadio hospitalario, y resultados de exámenes imagenológicos y de laboratorio. Cada secuela fue especificada según el tipo asociado a alteración cardiovascular, músculo-esquelética, respiratoria y neurológica. Conclusión. La mayoría de los pacientes con secuelas tienen una edad media de 50 años, siendo las mujeres las que presentaron una mayor prevalencia. Los antecedentes de HTA y DM se encontraron en las cinco áreas analizadas, mientras que las enfermedades cardiovasculares y el EPOC sólo se encontraron en algunas secuelas. Los síntomas predominantes en la fase aguda de la enfermedad varían entre el grupo de secuelas neurológicas en comparación con los demás grupos.

Background. On March 11, 2020, WHO declared COVID-19 a pandemic. Today, several post-acute sequelae of SARS-CoV-2 infection have been established, but several authors have shown that this disease persists in many people after the acute phase. Objective. Identify and describe the previous characteristics of patients who present sequelae after infection with COVID-19. Methods. 2 bibliographic searches were performed in different databases, where a total of 15 articles were selected according to inclusion and exclusion criteria. A qualitative analysis of the references was made and they were separated according to the type of sequelae reported. Results. Among the demographic characteristics of the persons who presented sequelae after infection with COVID-19 were age, sex, pre-existing comorbidities, and in some cases BMI. The clinical characteristics include the symptoms present in the acute phase, state of severity, length of hospital stay, and results of imaging and laboratory tests. Each of them is specified according to the type of sequelae associated with cardiovascular, musculoskeletal, respiratory and neurological. Conclusion. The majority of patients with sequelae had a mean age of 50 years, with women presenting a higher prevalence. A history of hypertension and DM were found in all five areas analyzed, while cardiovascular disease and COPD were only found in some sequelae. The predominant symptoms in the acute phase of the disease varied among the neurological sequelae group compared to the other groups.

Pharmacological management, and potentially inappropriate prescriptions in patients with osteoporosis.

BACKGROUND: The treatment of osteoporosis involves medications that reduce the risk of fractures, but some medications can decrease bone density. The aim was to identify the treatments, comorbidities, and prescriptions related to reducing bone mineral density in patients with osteoporosis. RESEARCH DESIGN AND METHODS: A cross-sectional study that identified patterns of anti-osteoporotic drug prescriptions for outpatient use and potentially inappropriate prescriptions for patients with osteoporosis based on the drug-dispensing database of 8.5 million people in Colombia. All patients ≥65 years with a diagnosis of osteoporosis were included. RESULTS: A total of 16,362 patients with osteoporosis were identified. They had a median age of 74.4 years, and 47.9% received anti-osteoporotic therapy, especially bisphosphonates (41.6%), and 86.5% received calcium and/or vitamin D supplement. 41.6% of those who had a history of bone fractures were prescribed anti-osteoporotic drugs. Potentially inappropriate prescriptions, especially corticosteroids at doses greater than 5mg prednisolone equivalent (4.4%), were found in 41.4% of cases and were more common in older patients and those with a history of fractures or with cardiovascular, digestive, neurological, psychiatric or neoplastic comorbidities. CONCLUSIONS: A significant proportion of patients had potentially inappropriate prescriptions, especially older patients, those with certain comorbidities, and those receiving comedication with antirheumatic drugs.

Use of antibiotics in patients who were attacked by animals that can transmit rabies.

Animal bites have a high probability of becoming infected. In high-risk wounds, the use of antibiotics that kill the associated microorganisms is recommended. The aim of this study was to determine the use of inappropriate antibiotics in patients in different regions of Colombia who were attacked in 2020 by animals that can transmit rabies. This was a retrospective follow-up study of a cohort of patients with wounds caused by animals; the patients were affiliated with the Colombian Health System. Sociodemographic, clinical and pharmacological data were collected. A total of 280 patients were analysed. The median age was 28.0 years, and 52.1% were men. The attacks were attributed to dogs (85.0%) and cats (15.0%), and 9.6% were classified as severe exposure. Antibiotics were used in 71.1% of cases for prophylaxis and in 4.3% of the cases for the treatment of superinfection; cephalexin (37.5%), amoxicillin/clavulanic acid (15.7%) and dicloxacillin (10.4%) were the predominant antibiotics used. A total of 72.0% of patients who received antibiotics received inadequate prescriptions, and 49.2% had no indication to receive prophylaxis. Being treated in the Caribbean region (OR: 4.09; 95% CI: 1.79-9.30) and receiving analgesics (OR: 3.15; 95% CI: 1.25-7.94) were associated with a greater probability of being prescribed antibiotics inadequately; attacks resulting in severe exposure were associated with a lower probability (OR: 0.40; 95% CI: 0.16-0.98). A significant proportion of patients had no indication for prophylactic antibiotics or was prescribed antibiotics not recommended by clinical practice guidelines. There was a low prevalence of prescriptions for amoxicillin/clavulanic acid, the most recommended antibiotic.

Potentially inappropriate prescriptions of antipsychotic and anticholinergic drugs in patients with Parkinson's disease.

Aim: The objective was to determine the prevalence of the potentially inappropriate antipsychotics and anticholinergics used in patients with Parkinson's disease. Materials & methods: A cross-sectional study identified the prescription of antipsychotics, anticholinergics and drugs for the treatment of Parkinson's disease. The anticholinergic burden was evaluated, and quetiapine and clozapine were considered to be adequate antipsychotics. Results: 2965 patients with Parkinson's disease were identified. The presence of psychiatric disorders and other neurological pathologies was associated with a greater probability of receiving potentially inappropriate antipsychotic prescriptions. The presence of greater number of comorbidities was associated with a greater probability of receiving anticholinergics. Conclusion: Older age and associated comorbidities, especially psychiatric and neurological comorbidities, increase the likelihood of patients with Parkinson's disease being prescribed antipsychotics and anticholinergics.

Lay abstract People with Parkinson's disease have movement disorders, and some of them will frequently have medical problems such as constipation, urinary incontinence, cognitive impairment, depression and anxiety, among others. Many medications can make these symptoms worse, so they can be considered potentially inappropriate prescriptions. From a drug dispensing database, we found 2965 patients with a diagnosis of Parkinson's disease, in which more than a third of them presented this type of potentially inappropriate prescriptions, especially those patients of older age and those who had other neurological or psychiatric diseases.

Síndrome H: primer caso pediátrico reportado en América Latina / H syndrome: First reported paediatric case in Latin America

Introducción: El síndrome H es una enfermedad genética extremadamente rara de compromiso multisistémico, el cual clínicamente puede ser reconocido de forma precoz, ofreciendo de manera oportuna un seguimiento, tratamiento específico y asesoramiento genético. Objetivo: Presentar un caso con características «típicas del síndrome H¼ para favorecer su identificación precoz. Caso clínico: Varón de 8 años de edad, evaluado por tumoraciones testiculares, lesiones dérmicas tipo hiperpigmentación con hipertricosis, retraso del lenguaje, talla baja, deformidades articulares, hipoacusia neurosensorial bilateral, anemia, hipergammaglobulinemia y alteraciones óseas. En los estudios histológicos de la piel y las masas testiculares se observó infiltración linfoplasmocitaria. El secuenciamiento del gen SLC29A3 detectó una mutación homocigota c.1087 C>T (p.Arg363Trp; rs387907067) concluyente con el síndrome H, la cual ha sido reportada previamente. Conclusiones: Este es el primer caso reportado en Latinoamérica del síndrome H, cuyas características descritas son parte del espectro clínico. El hallazgo clínico principal, que orienta al diagnóstico, es la hiperpigmentación acompañada de hipertricosis.

Introduction: H Syndrome is an extremely rare genetic disease, with a multisystemic character and which can be identified in early childhood, offering the opportunity of specific treatment and genetic counselling. Objective: To present a clinical case with "typical" characteristics of H Syndrome. Clinical case: The case is presented of an 8-year-old male patient who presented with testicular tumours and skin lesions characterised by hyperpigmentation with hypertrichosis, language delay, short stature, and joint deformities. He also presented with bilateral sensorineural hearing loss, anaemia, hypergammaglobulinaemia, and bone disorders. Histopathology studies of the skin and testicular masses reported lymphoplasmacytic infiltration. Sequencing analysis of gene SLC29A3 showed the homozygote mutation c.1087 C>T (p.Arg363Trp; rs387907067). Conclusions: These findings are consistent with H syndrome, and this is the first reported case in Latin America. The key to the diagnosis is the finding of hyperpigmentation with hypertrichosis.

[H syndrome: First reported paediatric case in Latin America]. / Síndrome H: primer caso pediátrico reportado en América Latina.

INTRODUCTION: H Syndrome is an extremely rare genetic disease, with a multisystemic character and which can be identified in early childhood, offering the opportunity of specific treatment and genetic counselling. OBJECTIVE: To present a clinical case with "typical" characteristics of H Syndrome. CLINICAL CASE: The case is presented of an 8-year-old male patient who presented with testicular tumours and skin lesions characterised by hyperpigmentation with hypertrichosis, language delay, short stature, and joint deformities. He also presented with bilateral sensorineural hearing loss, anaemia, hypergammaglobulinaemia, and bone disorders. Histopathology studies of the skin and testicular masses reported lymphoplasmacytic infiltration. Sequencing analysis of gene SLC29A3 showed the homozygote mutation c.1087 C>T (p.Arg363Trp; rs387907067). CONCLUSIONS: These findings are consistent with H syndrome, and this is the first reported case in Latin America. The key to the diagnosis is the finding of hyperpigmentation with hypertrichosis.