A Rare Cause of Low Back Pain.

This is the case of a 60-year-old man with no known medical history who presented with progressively worsening lumbar pain and was found to have idiopathic dorsal epidural lipomatosis. The patient's condition improved significantly with pain management. Therefore, no surgical intervention was warranted at the time, but the patient was advised to keep close follow-up as an outpatient. Being familiar with this potential cause of lumbar pain is vital, as it can lead to severe morbidity if left unrecognized.

Caracterización clínica y epidemiológica de pacientes con trombosis venosa profunda y cáncer / Clinical and epidemiological characterization of patients with deep vein thrombosis and cancer

Introducción: La enfermedad tromboembólica venosa es un trastorno en el que se forma un trombo en el interior de las venas, que bloquea el flujo sanguíneo y produce diferentes sintomatologías en función de su localización. Objetivos: Definir las características clínicas y epidemiológicas de los pacientes con trombosis venosa profunda y cáncer. Métodos: Se realizó un estudio descriptivo y retrospectivo de los pacientes que ingresaron en el Servicio de Flebolinfología del Instituto Nacional de Angiología y Cirugía Vascular, con el diagnóstico de trombosis venosa profunda y cáncer, durante el período entre enero y diciembre de 2018. Se estudiaron las siguientes variables: grupos de edad, sexo, diagnóstico al ingreso, factores de riesgo, tipos de cáncer y localización de la trombosis según Eco-Doppler. Resultados: El grupo de edad predominante fue 60-69 años (30,8 por ciento) y prevaleció el sexo femenino (61,5 por ciento). Sobresalió la localización del cáncer en las mamas y la próstata con tres casos cada uno (23,1 por ciento). El factor de riesgo predominante resultó la edad (38,4 por ciento), seguido por la presencia de metástasis (23,1 por ciento). Como sector predominante, según Eco-Doppler, se halló el femoropoplíteo (58,8 por ciento). Conclusiones: La trombosis venosa profunda afecta en gran medida a los pacientes con cáncer. Los más afectados tienen entre 60 y 69 años. Los factores de riesgo predominantes fueron la edad y la presencia de metástasis; y la localización más frecuente, los miembros inferiores, en específico, a nivel del sector femoropoplíteo(AU)

Introduction: Venous thromboembolic disease is a disorder in which a thrombus forms inside the veins, which blocks blood flow and produces different symptoms depending on its location. Objectives: To define the clinical and epidemiological characteristics of patients with deep vein thrombosis and cancer. Methods: A descriptive and retrospective study of patients admitted in the Phlebolymphology Service of the National Institute of Angiology and Vascular Surgery, with the diagnosis of deep vein thrombosis and cancer, was conducted during the period between January and December 2018. The following variables were studied: age groups, sex, diagnosis upon admission, risk factors, types of cancer and location of thrombosis according to Eco-Doppler. Results: The predominant age group was 60-69 years (30.8 percent) and the female sex prevailed (61.5 percent). The location of cancer in the breasts and prostate stood out with three cases each (23.1 percent). The predominant risk factor was age (38.4 percent), followed by the presence of metastases (23.1 percent). As the predominant sector, according to Eco-Doppler, it was found the femoro-popliteal (58.8 percent). Conclusions: Deep vein thrombosis greatly affects cancer patients. The most affected are between 60 and 69 years old. The predominant risk factors were age and the presence of metastases; and the most frequent location, the lower limbs, specifically, at the level of the femoro-popliteal sector(AU)

Signos radiológicos en la neuroimagen de pacientes pediátricos con trastorno por estrés postraumático / Radiological signs in neuroimaging of pediatric patients with posttraumatic stress disorder

RESUMEN Introducción: El trastorno por estrés postraumático afectan la salud mental de los pacientes pediátricos, se considera muy común en estos pacientes. Estudios científicos apoyados en la resonancia magnética han fundamentado una estrecha relación entre el estrés postraumático y cambios estructurales en el cerebro. Se realizó una revisión bibliográfica en el periodo de abril a mayo de 2021, en los recursos disponibles en MEDLINE, SciELO, Pubmed y Elsevier. Del total de consultas se citaron 25 referencias. Objetivo: Describir los signos radiológicos en la neuroimagen de pacientes pediátricos con estrés postraumático. Desarrollo: Los estudios de neuroimagen en niños y adolescentes con trastorno por estrés postraumático se han centrado en estructuras anormales y la funcionalidad de algunas regiones individuales del cerebro; estas implican las regiones cerebrales asociadas con la fisiopatología, ellas son: la corteza prefrontal medial y dorsolateral; la corteza orbitofrontal; ínsula; núcleo lentiforme; amígdala; hipocampo y el parahipocampo; la corteza cingulada anterior y posterior; el precúneo; cúneo; el giro fusiforme y lingual y los tractos de materia blanca que conectan estas regiones cerebrales. Conclusiones: Los signos radiológicos en la neuroimagen de pacientes pediátricos con trastorno por estrés postraumático son: reducción de los volúmenes del hipocampo; del volumen cerebral e intracraneal y del volumen de la amígdala, así como una disminución del área total del cuerpo calloso. Además se observa que el volumen hipofisario y los volúmenes de materia gris cerebral fueron menores en los pacientes con estrés postraumático.

ABSTRACT Introduction: Post-traumatic stress disorder affects the mental health of pediatric patients; it is considered very common in these patients. Scientific studies supported by magnetic resonance imaging have established a close relationship between post-traumatic stress and structural changes in the brain. A bibliographic review was carried out in the period from April to May 2021, in the resources available in MEDLINE, SciELO, Pubmed and Elsevier. Of the total of consultations, 25 references were cited. Objective: To describe the radiological signs in the neuroimaging of pediatric patients with post-traumatic stress disorder. Development: Neuroimaging studies in children and adolescents with post-traumatic stress disorder have focused on abnormal structures and the functionality of some individual brain regions; these involve the brain regions associated with pathophysiology, they are: the medial and dorsolateral prefrontal cortex; the orbitofrontal cortex; insula; lentiform nucleus; amygdala; hippocampus and parahippocampus; the anterior and posterior cingulate cortex; the precuneus; cuneus; the fusiform and lingual gyrus and the white matter tracts that connect these brain regions. Conclusions: The radiological signs in the neuroimaging of pediatric patients with post-traumatic stress disorder are: reduction of the volumes of the hippocampus; brain and intracranial volume and amygdala volume, as well as a decrease in the total area of ​​the corpus callosum. In addition, it is observed that the pituitary volume and the volumes of cerebral gray matter were lower in patients with post-traumatic stress.

Lung Ultrasound Performed by Primary Care Physicians for Clinically Suspected Community-Acquired Pneumonia: A Multicenter Prospective Study.

PURPOSE: We investigated whether lung ultrasound (US) performed in primary care is useful and feasible for diagnosing community-acquired pneumonia (CAP) compared with chest radiography, as most previous research has been conducted in hospital settings. METHODS: We undertook a prospective observational cohort study of lung US performed in 12 primary care centers. Patients aged 5 years and older with symptoms suggesting CAP were examined with lung US (by 21 family physicians and 7 primary care pediatricians) and chest radiograph on the same day. We compared lung US findings with the radiologist's chest radiograph report as the reference standard, given that the latter is the most common imaging test performed for suspected CAP in primary care. The physicians had varied previous US experience, but all received a 5-hour lung US training program. RESULTS: The study included 82 patients. Compared with chest radiography, positive lung US findings (consolidation measuring >1 cm or a focal/asymmetrical B-lines pattern) showed a sensitivity of 87.8%, a specificity of 58.5%, a positive likelihood-ratio of 2.12, and a negative likelihood-ratio of 0.21. Findings were similar regardless of the physicians' previous US training or experience. We propose a practical algorithm whereby patients having consolidation measuring greater than 1 cm or normal findings on lung US could skip chest radiography, whereas patients with a B-lines pattern without consolidation (given its low specificity) would need chest radiography to ensure appropriate management. Lung US was generally performed in 10 minutes or less. CONCLUSION: Point-of-care lung US in primary care could be useful for investigating suspected CAP (avoiding chest radiography in most cases) and is likely feasible in daily practice, as short training programs appear sufficient and little time is needed to perform the scan.

Calidad de vida en cuidadores familiares de adultos mayores frágiles

Objetivo: Determinar el comportamiento de la calidad de vida relacionada con la salud de los cuidadores primarios de adultos mayores frágiles. Métodos: Estudio transversal correlacional desarrollado en el Hospital Clínico-Quirúrgico-Docente "Dr. León Cuervo Rubio", de Pinar del Río, entre 2018 y 2019. Fueron reclutados 276 cuidadores, mediante muestreo intencional, aplicándoseles varios instrumentos, para la obtención de información. Además de los métodos de estadística descriptiva, se empleó el análisis estadístico inferencial, para buscar la existencia de interacciones entre variables. Resultados: La edad del cuidador presentó una mediana de 47 años; desempeñándose el 53,6 %,más de cuatro años en labores de cuidado, dedicándole una media de 4,9 horas diarias a dicha labor, predominando los cuidadores sin adiestramiento previo (76,1 %) y con apoyo social inadecuado (57,6 %). Las dimensiones rol físico, función social, salud mental, vitalidad y rol emocional fueron las más afectadas. Las características sociodemográficas y vinculadas al cuidado mostraron asociación estadísticamente significativa (p<0,05), con la afectación a diferentes dimensiones de la encuesta SF-36, quienes fueron correlacionadas con la carga del cuidador, la antigüedad y la cantidad de horas diarias de cuidado. Conclusiones: Fue determinado el estado de la calidad de vida de los cuidadores, detallándose una mayor afectación del componente mental, que incluía las dimensiones función social, salud mental, vitalidad, rol emocional. A su vez, fueron identificadas las variables sociodemográficas asociadas a la afectación de la calidad de vida en cada una de sus dimensiones, así como se logró correlacionar la calidad de vida con variables asociadas al cuidador.

Objective: To determine the health-related quality of life behavior of primary caregivers of frail older adults. Methods: Cross-sectional correlational study developed at the "Dr. León Cuervo Rubio", from Pinar del Río, between 2018 and 2019. 276 caregivers were recruited, through intentional sampling, applying various instruments to obtain information. In addition to descriptive statistics methods, inferential statistical analysis was used to search for the existence of interactions between variables. Results: The age of the caregiver presented a median of 47 years; 53.6% performing, more than four years in care work, dedicating an average of 4.9 hours a day to this work, predominating caregivers without prior training (76.1%) and with inadequate social support (57.6 %). The physical role, social function, mental health, vitality and emotional role dimensions were the most affected. The sociodemographic and care-related characteristics showed a statistically significant association (p <0.05), with the effect on different dimensions of the SF-36 survey, which were correlated with the caregiver's burden, seniority and the number of hours per day of care. Conclusions: The state of the quality of life of the caregivers was determined, detailing a greater affectation of the mental component, which included the dimensions of social function, mental health, vitality, emotional role. In turn, the sociodemographic variables associated with the affectation of the quality of life in each of its dimensions were identified, as well as it was possible to correlate the quality of life with variables associated with the caregiver.

Homeopatía, necesidad de una superación continua de esta modalidad terapéutica en tiempos de pandemia / Homeopathy, the need for continuous improvement of this therapeutic modality in times of pandemic

Las enfermedades respiratorias infecciosas afectan con frecuencia a los pacientes que acuden a consultas; constituyen una de las más incapacitantes e incluso, si no se atienden adecuadamente generan una evolución tórpida y pueden comprometer la vida del paciente. En su tratamiento se emplean medicamentos alopáticos, así como modalidades terapéuticas de medicina natural y tradicional. Teniendo en cuenta el desarrollo de la homeopatía en Cuba en los últimos años, se propone como objetivo enfatizar en la importancia de la superación por parte de los profesionales de la salud en el uso de esta modalidad terapéutica, a fin de utilizarla en los diferentes niveles de atención por su pertinencia en tiempos de pandemia.

Infectious respiratory diseases frequently affect patients who attend consultations; they constitute one of the most incapacitating and even, if they are not taken care properly they generate a torpid evolution and can jeopardize the life of the patient. In its treatment allopathic medications are used, as well as therapeutic modalities of herbal and folk medicine. Taking into account the development of homeopathy in Cuba in recent years, it is proposed as an objective to emphasize the importance of improvement by health professionals in the use of this therapeutic modality, in order to use it at different levels of care for its relevance in times of pandemic.

Gérmenes bacterianos aislados con frecuencia en úlceras flebostáticas de pacientes ingresados / Bacterial germs frequently isolated in phlebostatic ulcers of admitted patients

Introducción: Las úlceras flebostáticas constituyen una patología importante en la práctica médica diaria en todos los niveles de asistenciales; después del dolor y del edema, las úlceras de los miembros inferiores representan el tercer problema más común en las consulta de angiología. Objetivo: Caracterizar los gérmenes bacterianos aislados con frecuencia en las úlceras flebostáticas de los pacientes ingresados. Métodos: Se realizó un estudio descriptivo retrospectivo de corte transversal en 60 pacientes ingresados por diagnóstico de úlceras flebostáticas entre julio de 2016 y junio de 2017. A todos se les hizo cultivo microbiológico de la lesión con el respectivo antibiograma. Se tuvieron en cuenta las variables: tipo de úlcera flebostática, gérmenes bacterianos aislados, antibióticos analizados in vitro y patrón de sensibilidad antibiótica. Se calcularon las frecuencias absolutas y relativas. Resultados: Se encontró un predominio de úlceras varicosas (67 por ciento). El germen bacteriano que más se aisló fue Pseudomas spp. (41,7 por ciento), con más frecuencia en las úlceras varicosas que en las postrombóticas (47,5 por ciento vs. 30 por ciento). Los mejores porcentajes de sensibilidad in vitro se mostraron ante los siguientes antibióticos: Clindamicina (100 por ciento), Tobramicina (79,2 por ciento), Ciprofloxacino (78,4 por ciento), Amikacina (68,4 por ciento), Cotrimoxazol (68,2 por ciento), Cefepime (67,6 por ciento), Doxiciclina (66,7 por ciento), Cloranfenicol (60 por ciento), Meropenem (62,1 por ciento), Penicilina G (57 por ciento) y Aztreonam (55,9 por ciento). Conclusiones: Pseudomas spp. fue el germen bacteriano que más se aisló en los pacientes con úlceras varicosas y postrombóticas; además, se manifestó sensibilidad a 11 de los 23 antibióticos que se probaron in vitro en más del 50 por ciento de los aislados a los que se enfrentaron(AU)

Introduction: Phlebostatic ulcers are an important pathology in daily medical practice at all levels of care; after pain and edema, lower limb ulcers are the third most common problem in angiology consultations. Objective: Characterize frequently isolated bacterial germs in the phlebostatic ulcers of admitted patients. Methods: A descriptive, cross-sectional, retrospective study was conducted in 60 patients admitted due to a diagnosis of phlebostatic ulcers from July 2016 to June 2017. It was made a microbiological cultivation of the lesion with the respective antibiogram to all the patients. Variables were taken into account, like: type of phlebostatic ulcer, isolated bacterial germs, antibiotics tested in vitro and antibiotic sensitivity pattern. The absolute and relative frequencies were calculated. Results: A predominance of varicose ulcers (67 percent) was found. The most isolated bacterial germ was Pseudomasspp. (41.7 percent), and it was more often in varicose ulcers than in post-thrombotic ulcers (47.5 percent vs. 30 percent). The best percentages of in vitro sensitivity were shown against the following antibiotics: Clindamycin (100 percent), Tobramycin (79.2 percent), Ciprofloxacin (78.4 percent), Amikacin (68.4 percent), Cotrimoxazol (68.2 percent), Cefepime (67.6 percent), Doxycycline (66.7 percent), Chloramphenicol (60 percent), Meropenem (62.1 percent), Penicillin G (57 percent), Aztreonam (55.9 percent). Conclusions: Pseudomasspp. was the most isolated bacterial germ in patients with varicose and post-thrombotic ulcers; in addition, sensitivity was present in 11 of the 23 antibiotics that were tested in vitro in more than 50 percent of the isolates they faced(AU)

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.

PURPOSE: Germline heterozygous mutations of GATA2 underlie a variety of hematological and clinical phenotypes. The genetic, immunological, and clinical features of GATA2-deficient patients with mycobacterial diseases in the familial context remain largely unknown. METHODS: We enrolled 15 GATA2 index cases referred for mycobacterial disease. We describe their genetic and clinical features including their relatives. RESULTS: We identified 12 heterozygous GATA2 mutations, two of which had not been reported. Eight of these mutations were loss-of-function, and four were hypomorphic. None was dominant-negative in vitro, and the GATA2 locus was found to be subject to purifying selection, strongly suggesting a mechanism of haploinsufficiency. Three relatives of index cases had mycobacterial disease and were also heterozygous, resulting in 18 patients in total. Mycobacterial infection was the first clinical manifestation in 11 patients, at a mean age of 22.5 years (range: 12 to 42 years). Most patients also suffered from other infections, monocytopenia, or myelodysplasia. Strikingly, the clinical penetrance was incomplete (32.9% by age 40 years), as 16 heterozygous relatives aged between 6 and 78 years, including 4 older than 60 years, were completely asymptomatic. CONCLUSION: Clinical penetrance for mycobacterial disease was found to be similar to other GATA2 deficiency-related manifestations. These observations suggest that other mechanisms contribute to the phenotypic expression of GATA2 deficiency. A diagnosis of autosomal dominant GATA2 deficiency should be considered in patients with mycobacterial infections and/or other GATA2 deficiency-related phenotypes at any age in life. Moreover, all direct relatives should be genotyped at the GATA2 locus.

Implicit attitudes towards risky driving behaviors: Evidence of validity for the implicit association test.

INTRODUCTION: Attitudes toward risky driving behaviors are commonly evaluated through direct self-report measures. Nevertheless, these instruments have limitations, such as socially-desirable responding. This study examines the validity of the Implicit Association Test (IAT) as an indirect measure of attitudes towards risky driving. An IAT with "risky" vs. "safe" driving behaviors categories was evaluated. METHOD: A sample of 100 participants (ranging from 18 to 70 years of age) completed the IAT and measures of attitudes, driving styles, personality traits, risk-taking (IOWA Gambling Task), and social desirability (Driver Social Desirability Scale). RESULTS: A high level of internal consistency was found for IAT scores. The IAT was correlated with driving styles (risky, dissociative, and careful dimensions), risk-related personality traits (impulsive/sensation seeking and aggression/hostility) and risk-taking measures. IAT scores were also associated with self-reported risky driving behaviors (r = 0.33). As expected, a higher level of negative implicit attitudes was found among young drivers. The driver social desirability scale was correlated with most self-report measures, but not with the IAT. CONCLUSION: The present study provides reliability and validity evidence for the IAT as an indirect measure of attitudes towards risky driving. The IAT can serve as an important complement to conventional self-report measures of driving attitudes. Practical Applications: Potential use of global measure of implicit attitudes toward risky driving behaviors in the evaluation, education, and training of drivers are discussed.

Enfermedad cerebrovascular en pacientes ingresados en cuidados intensivos / Cerebrovascular disease in patients admitted to intensive care

RESUMEN Introducción: las enfermedades cerebrovasculares son un problema de salud mundial y representan la tercera causa de muerte, la primera de discapacidad y segunda de demencia. Objetivo: caracterizar clínica y epidemiológicamente la enfermedad cerebrovascular en pacientes ingresados con cuidados intensivos. Métodos: estudio observacional, descriptivo y transversal, efectuado en el Hospital General Docente "Comandante Pinares"", de la provincia de Artemisa, entre 2016 y 2018. De forma probabilística, aleatoria simple, fue seleccionada una muestra de 200 pacientes con enfermedad cerebrovascular. El estudio de las historias clínicas permitió la obtención de información que dio salida a las variables estudiadas, se emplearon para su presentación, métodos de estadística descriptiva. Se respetó la ética médica. Resultados: predominaron los pacientes con 80 años y más (26 %), del sexo masculino (56 %). Fueron frecuentes los accidentes cerebrovasculares isquémicos (83 %) de tipo trombótico (33 %), donde la hipertensión arterial (93,5 %) y el tabaquismo (82 %) fueron los principales factores de riesgo; se tuvo la ventana terapéutica de tres a seis horas (73,5 %) como la más común, predominaron los pacientes vivos, con secuelas al egreso hospitalario (48,5 %). Conclusiones: los pacientes mayores de 80 años y masculinos con factores de riesgos como la hipertensión arterial y tabaquismo, fueron los más propensos al accidente cerebrovascular; los isquémicos y de tipo trombóticos los más comunes, con ventana terapéutica de tres a seis horas en la mayoría de los casos. El mayor número llegó obnubilado y fueron egresados vivos con secuelas.

ABSTRACT Introduction: cerebrovascular diseases are a global health problem and represent the third cause of death, the first cause of disability and the second cause of dementia. Objective: to characterize clinical and epidemiologically cerebrovascular disease in patients admitted to intensive care. Methods: observational, descriptive and cross-sectional study was conducted at "Comandante Pinares" General Hospital, Artemisa province, for the period of 2016-2018. A probabilistic and at simple random sample of 200 patients suffering from cerebrovascular disease was chosen. The study of the clinical histories allowed the collection of output information to the studied variables, using for its presentation methods of descriptive statistics. Medical ethics was respected. Results: patients from 80 years and older predominated (26 %), male sex (56 %). Ischemic cerebrovascular strokes (83 %), thrombotic type (33 %) were frequent, where hypertension (93,5 %) and smoking (82 %) stated as the main risk factors, having the therapeutic window of 3-6 hours (73,5 %) as the most common, alive patients with sequelae at hospital discharged predominated (48,5 %). Conclusions: patients older than 80 years and male, with hypertension and smoking addiction were prone to cerebrovascular stroke, where ischemic and thrombotic types were the most common, with a therapeutic window of three to six hours in the ajority of the cases. The greatest number of patients was admitted with obnubilation and they were discharged alive with sequelae.

Tratamientos utilizados en los pacientes hospitalizados por úlceras flebostáticas / Treatments Used in Patients Hospitalized for Phlebostatic Ulcers

Introducción: Las úlceras flebostáticas son de difícil curación, no existe un tratamiento único y efectivo, por lo que hay que combinarlos en un mismo paciente. Objetivo: Identificar los tratamientos utilizados en los pacientes ingresados por úlceras flebostáticas y la relación entre el tiempo de estadía hospitalaria, el tratamiento recibido y el estado de las úlceras al egreso hospitalario. Métodos: Estudio descriptivo ambispectivo en 121 ingresos hospitalario con el diagnóstico de úlceras flebostáticas. Las variables de estudio fueron: tratamientos recibidos, estado de la lesión al egreso y estadía hospitalaria. Se asociaron las variables entre sí utilizando la prueba Ji-cuadrada no paramétrica para variables independientes. Resultados: En los 121 ingresos se realizó tratamiento convencional, el 93,4 por ciento recibió antibióticos; el 60,3 po ciento tratamiento compresivo; y quirúrgico en el 56,2 por ciento, con predominio del injerto libre de piel en 72,1 por ciento de estos tratamientos quirúrgicos. El 42,2 por ciento egresó con la lesión curada (tratamiento quirúrgico). Se encontraron asociaciones directas entre el tratamiento quirúrgico con la estadía hospitalaria (( 2 = 31,22; p= 0,0001), con la cura de la lesión (( 2 = 19,92; p= 0,0100) y con su estado al alta hospitalaria (( 2 = 36,07; p= 0,0001). Conclusiones: El tratamiento más empleado es el quirúrgico y dentro de estos, el autoinjerto dermo-epidérmico es el más utilizado, puesto que presenta los mejores resultados en cuanto a la curación de la lesión pero mayor estadía hospitalaria en los pacientes(AU)

Introduction: Phlebostatic ulcers are difficult to heal; there is no single and effective treatment, so several treatments must be combined in the same patient. Objective: To identify the treatments used in patients admitted for phlebostatic ulcers and the relationship between hospital stay, treatment received, condition of the ulcers at hospital discharge. Methods: Ambispective descriptive study of 121 hospital admissions with the diagnosis of phlebostatic ulcers. The study variables were treatments received, status of the injury at discharge, and hospital stay. The variables were associated with each other, using the non-parametric Chi-square test for independent variables. Results: The 121 admissions received conventional treatment. 93.4 percent received antibiotics; 60.3 percent, compression treatment; and 56.2 percent, surgical treatment, with predominance of free skin grafting in 72.1 percent of these surgical treatments. 42.2 percent was discharged with the lesion healed (by surgical treatment). Direct associations were found between surgical treatment with hospital stay (( 2 = 31.22; p = 0.0001), with the cure of the lesion (( 2 = 19.92; p=0.0100), and with the ulcer state at hospital discharge (( 2 =36.07; p= 0.0001). Conclusions: The most used treatment is the surgical one, specifically the dermo-epidermal autograft, which presented the best outcome regarding the healing of the injury, but a longer hospital stay for the patients(AU)

Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency.

BACKGROUND: Cytomegalovirus (CMV) can cause severe disease in children and adults with a variety of inherited or acquired T-cell immunodeficiencies, who are prone to multiple infections. It can also rarely cause disease in otherwise healthy persons. The pathogenesis of idiopathic CMV disease is unknown. Inbred mice that lack the gene encoding nitric oxide synthase 2 (Nos2) are susceptible to the related murine CMV infection. METHODS: We studied a previously healthy 51-year-old man from Iran who after acute CMV infection had an onset of progressive CMV disease that led to his death 29 months later. We hypothesized that the patient may have had a novel type of inborn error of immunity. Thus, we performed whole-exome sequencing and tested candidate mutant alleles experimentally. RESULTS: We found a homozygous frameshift mutation in NOS2 encoding a truncated NOS2 protein that did not produce nitric oxide, which determined that the patient had autosomal recessive NOS2 deficiency. Moreover, all NOS2 variants that we found in homozygosity in public databases encoded functional proteins, as did all other variants with an allele frequency greater than 0.001. CONCLUSIONS: These findings suggest that inherited NOS2 deficiency was clinically silent in this patient until lethal infection with CMV. Moreover, NOS2 appeared to be redundant for control of other pathogens in this patient. (Funded by the National Center for Advancing Translational Sciences and others.).

Síndrome de Behçet complicado con trombosis venosas profundas en miembros inferiores / Behçet syndrome complicated with deep vein thrombosis in lower limbs

En este trabajo se presentó a un paciente de 32 años que ingresó por pérdida de peso, decaimiento, orinas turbias y dolor en región inguinal derecha. Se describió la evolución clínica, los estudios imagenológicos y de laboratorio que permitieron diagnosticar la presencia del Síndrome de Behçet. Los principales signos presentados por el paciente fueron: ulceraciones bucales recurrentes, la presencia de uveítis anterior y trombosis venosas profundas en miembros inferiores. El cuadro clínico del paciente y la valoración conjunta de varias especialidades médicas constituyeron los factores claves para establecer el diagnóstico definitivo. La evolución del paciente fue satisfactoria con el tratamiento de prednisona y anticoagulantes(AU)

This paper reports a 32-year-old male patient who was hospitalized for weight loss, decay, cloudy urine and pain in the right inguinal region. The clinical evolution, imaging and laboratory studies allowed diagnosing Behçet Syndrome. The patient showed main signs as recurrent mouth ulcerations, anterior uveitis and deep vein thrombosis in the lower limbs. The clinical condition of this patient and the joint assessment of various medical specialties were the key factors in establishing the definitive diagnosis. The patient´s evolution was satisfactory treated with prednisone and anticoagulants(AU)

Caracterización de los pacientes hospitalizados por úlceras flebostáticas / Characterization of the patients hospitalized due to phlebostatic ulcers

Introducción: Las úlceras en los miembros inferiores se relacionan desde los tiempos antiguos con las venas varicosas; es aceptado que dichas úlceras son una enfermedad frecuente y un grave problema de salud pública en todo el mundo y que la gran mayoría es el resultado de una insuficiencia venosa crónica. Objetivo: Caracterizar a los a los pacientes hospitalizados por úlceras flebostáticas. Métodos: Se realizó un estudio ambispectivo en 81 pacientes ingresados con el diagnóstico de úlceras flebostáticas. Las variables de estudio fueron: edad, sexo, cantidad de ingresos y estadía hospitalaria. Resultados: Se encontró un predominio del sexo femenino y de los mayores de 60 años en los 121 ingresos realizados. El 72,8 por ciento ingresó una sola vez y el 18,2 por ciento en más de una ocasión. La estadía hospitalaria fue de más de 21 días en el 55,4 por ciento. Conclusiones: Los pacientes hospitalizados con úlceras flebostáticas son predominantemente adultos mayores del sexo femenino, presentan una baja frecuencia de reingresos y una estadía hospitalaria prolongada(AU)

Introduction: The ulcers in the lower limbs are related from the old times with the varicose veins; it is accepted that the same ones are a frequent illness and a serious problem of public health in the world, and the great majority is the result of chronic venous insufficiency. Objective: To characterize the patients hospitalized due to phlebostatic ulcers. Methods: It was carried out an ambispective study in 81 patients admitted with the diagnosis of phlebostatic ulcers. The study variables were: age, sex, quantity of hospital admissions and hospital stay. Results: It was predominant in the 121 of the hospital admission: the female sex and people older than 60 years. 72.8 percent of the patients were admitted one time and 18.2 percent in more than one occasion. The hospital demurrage was of more than 21 days in 55.4 percent of the cases. Conclusions: The patients hospitalized due to phlebostatic ulcers are predominantly female elder people. It was possible to characterize the patients hospitalized with a low frequency of hospital re-admission and hospital demurrage(AU)

Post K-Pg diversification of the mammalian order Eulipotyphla as suggested by phylogenomic analyses of ultra-conserved elements.

The origin of the mammalian order Eulipotyphla has been debated intensively with arguments around whether they began diversifying before or after the Cretaceous-Palaeogene (K-Pg) boundary at 66 Ma. Here, we used an in-solution nucleotide capture method and next generation DNA sequencing to determine the sequence of hundreds of ultra-conserved elements (UCEs), and conducted phylogenomic and molecular dating analyses for the four extant eulipotyphlan lineages-Erinaceidae, Solenodontidae, Soricidae, and Talpidae. Concatenated maximum-likelihood analyses with single or partitioned models and a coalescent species-tree analysis showed that divergences among the four major eulipotyphlan lineages occurred within a short period of evolutionary time, but did not resolve the interrelationships among them. Alternative suboptimal phylogenetic hypotheses received consistently the same amount of support from different UCE loci, and were not significantly different from the maximum likelihood tree topology, suggesting the prevalence of stochastic lineage sorting. Molecular dating analyses that incorporated among-lineage evolutionary rate differences supported a scenario where the four eulipotyphlan families diversified between 57.8 and 63.2 Ma. Given short branch lengths with low support values, traces of rampant genome-wide stochastic lineage sorting, and post K-Pg diversification, we concluded that the crown eulipotyphlan lineages arose through a rapid diversification after the K-Pg boundary when novel niches were created by the mass extinction of species.

Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.

Juvenile-onset recurrent respiratory papillomatosis (JRRP) is a rare and debilitating childhood disease that presents with recurrent growth of papillomas in the upper airway. Two common human papillomaviruses (HPVs), HPV-6 and -11, are implicated in most cases, but it is still not understood why only a small proportion of children develop JRRP following exposure to these common viruses. We report 2 siblings with a syndromic form of JRRP associated with mild dermatologic abnormalities. Whole-exome sequencing of the patients revealed a private homozygous mutation in NLRP1, encoding Nucleotide-Binding Domain Leucine-Rich Repeat Family Pyrin Domain-Containing 1. We find the NLRP1 mutant allele to be gain of function (GOF) for inflammasome activation, as demonstrated by the induction of inflammasome complex oligomerization and IL-1ß secretion in an overexpression system. Moreover, patient-derived keratinocytes secrete elevated levels of IL-1ß at baseline. Finally, both patients displayed elevated levels of inflammasome-induced cytokines in the serum. Six NLRP1 GOF mutations have previously been described to underlie 3 allelic Mendelian diseases with differing phenotypes and modes of inheritance. Our results demonstrate that an autosomal recessive, syndromic form of JRRP can be associated with an NLRP1 GOF mutation.

Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines.

Vaccination against measles, mumps, and rubella (MMR) and yellow fever (YF) with live attenuated viruses can rarely cause life-threatening disease. Severe illness by MMR vaccines can be caused by inborn errors of type I and/or III interferon (IFN) immunity (mutations in IFNAR2, STAT1, or STAT2). Adverse reactions to the YF vaccine have remained unexplained. We report two otherwise healthy patients, a 9-yr-old boy in Iran with severe measles vaccine disease at 1 yr and a 14-yr-old girl in Brazil with viscerotropic disease caused by the YF vaccine at 12 yr. The Iranian patient is homozygous and the Brazilian patient compound heterozygous for loss-of-function IFNAR1 variations. Patient-derived fibroblasts are susceptible to viruses, including the YF and measles virus vaccine strains, in the absence or presence of exogenous type I IFN. The patients' fibroblast phenotypes are rescued with WT IFNAR1 Autosomal recessive, complete IFNAR1 deficiency can result in life-threatening complications of vaccination with live attenuated measles and YF viruses in previously healthy individuals.

Inherited IL-18BP deficiency in human fulminant viral hepatitis.

Fulminant viral hepatitis (FVH) is a devastating and unexplained condition that strikes otherwise healthy individuals during primary infection with common liver-tropic viruses. We report a child who died of FVH upon infection with hepatitis A virus (HAV) at age 11 yr and who was homozygous for a private 40-nucleotide deletion in IL18BP, which encodes the IL-18 binding protein (IL-18BP). This mutation is loss-of-function, unlike the variants found in a homozygous state in public databases. We show that human IL-18 and IL-18BP are both secreted mostly by hepatocytes and macrophages in the liver. Moreover, in the absence of IL-18BP, excessive NK cell activation by IL-18 results in uncontrolled killing of human hepatocytes in vitro. Inherited human IL-18BP deficiency thus underlies fulminant HAV hepatitis by unleashing IL-18. These findings provide proof-of-principle that FVH can be caused by single-gene inborn errors that selectively disrupt liver-specific immunity. They also show that human IL-18 is toxic to the liver and that IL-18BP is its antidote.

Acoustic emissions of Sorex unguiculatus (Mammalia: Soricidae): Assessing the echo-based orientation hypothesis.

Shrew species have been proposed to utilize an echo-based orientation system to obtain additional acoustic information while surveying their environments. This system has been supported by changes in vocal emission rates when shrews encounter different habitats of varying complexity, although detailed acoustic features in this system have not been reported. In this study, behavioral experiments were conducted using the long-clawed shrew (Sorex unguiculatus) to assess this orientation system. Three experimental conditions were set, two of which contained obstacles. Short-click, noisy, and different types of tonal calls in the audible-to-ultrasonic frequency range were recorded under all experimental conditions. The results indicated that shrews emit calls more frequently when they are facing obstacles or exploring the experimental environment. Shrews emitted clicks and several different types of tonal calls while exploring, and modified the use of different types of calls for varying behavior. Furthermore, shrews modified the dominant frequency and duration of squeak calls for different types of obstacles, that is, plants and acrylic barriers. The vocalizations emitted at short inter-pulse intervals could not be observed when shrews approached these obstacles. These results are consistent with the echo-based orientation hypothesis according to which shrews use a simple echo-orientation system to obtain information from their surrounding environments, although further studies are needed to confirm this hypothesis.

Factores de riesgo en complicaciones tromboembólicas cerebrales de pacientes con fibrilación auricular permanente no valvular / Fatores de risco em complicações tromboembólicas cerebrais em pacientes com fibrilação atrial permanente não valvuvar / Risk factors in cerebral thromboembolic complications in patients with non-valvular permanent atrial fibrillation

Introducción: la fibrilación auricular es la arritmia cardiaca más frecuente que se trata en la práctica clínica y produce un 33 por ciento de las hospitalizaciones asociadas a arritmias. Objetivo: identificar factores de riesgo de complicaciones tromboembólicas cerebrales en pacientes con fibrilación auricular permanente no valvular y tratamiento anticoagulante oral entre los años 2015 y 2018. Método: se realizó un estudio de casos y controles en el Hospital General Docente "Dr. Agostinho Neto" en el periodo octubre entre 2015 y abril del 2018. El universo estuvo conformado 213 pacientes, 71 casos con fibrilación auricular permanente que sufrieron complicaciones tromboembólicas cerebrales bajo tratamiento con warfarina y 142 controles con fibrilación auricular permanente, con igual, pero sin las complicaciones antes mencionadas. Se seleccionaron dos controles por cada caso (2:1) para incrementar el poder estadístico del estudio. Se analizaron variables sociodemográficas, clínicas, ecocardiográficas, labilidad del INR (índice internacional normalizado) y adherencias terapéuticas. El análisis de los datos se presentó en tablas de datos de doble entrada. Se estimaron Chi cuadrado, intervalos de confianza y Odds ratio. Resultados: resultaron significativas el grupo de edad de 75 o más años, el sexo masculino, la hipertensión arterial, la presencia de placas de ateromas en aorta y carótidas, la diabetes mellitus, el INR subóptimo, la mala adherencia terapéutica. Conclusiones: el grupo etario de 75 o más años, sexo masculino, fumar, hipertensión arterial, diabetes mellitus, placas de ateroma en aorta y carótidas, INR subóptimo y mala adherencia terapéutica constituyen factores de riesgo significativos para la aparición de complicaciones tromboembólicas cerebrales(AU)

Introduction: atrial fibrillation is the most frequent cardiac arrhythmia that is treated in clinical practice and produces 33 percent of hospitalizations associated with arrhythmias. Objective: to identify risk factors for cerebral thromboembolic complications in patients with permanent nonvalvular atrial fibrillation and oral anticoagulant treatment between 2015 and 2018. Method: a case-control study was conducted in the General Teaching Hospital "Dr. Agostinho Neto" in the period October between 2015 and April 2018. The universe consisted of 213 patients, 71 cases with permanent atrial fibrillation who suffered cerebral thromboembolic complications under treatment with warfarin and 142 controls with permanent atrial fibrillation, with the same, but without the aforementioned complications. Two controls were selected for each case (2:1) to increase the statistical power of the study. We analyzed sociodemographic, clinical, echocardiographic variables, lability of the INR (international normalized index) and therapeutic adhesions. The analysis of the data was presented in double entry data tables. Chi square, confidence intervals and Odds ratio were estimated. Results: the age group of 75 or more years, the male sex, arterial hypertension, the presence of plaques of atheroma in the aorta and carotids, diabetes mellitus, suboptimal INR, poor therapeutic adherence were significant. Conclusions: the age group of 75 years or older, male sex, smoking, high blood pressure, diabetes mellitus, atheromatous plaques in the aorta and carotids, suboptimal INR and poor therapeutic adherence constitute significant risk factors for the appearance of cerebral thromboembolic complications(AU)

Introdução: a fibrilação atrial é a arritmia cardíaca mais frequente que é tratada na prática clínica e produz 33 por cento das internações associadas a arritmias. Objectivo: Para identificar os fatores de risco para as complicações tromboembólicas cerebrais em pacientes com não-valvular fibrilação atrial permanente e terapia anticoagulante oral, entre 2015 e 2018. Método: Um estudo de casos e controlos foi realizada no Hospital Universitario Dr. Agostinho Neto no período de outubro 2015 a abril de 2018. o grupo de estudo consistiu de 213 pacientes, 71 casos com fibrilação atrial permanente que sofreram sob cerebral complicações varfarina tromboembólica e 142 controles de fibrilação atrial permanente com igual, mas sem as complicações acima. Dois controles foram selecionados para cada caso (2:1) para aumentar o poder estatístico do estudo. Foram analisadas variáveis sociodemográficas, clínicas, ecocardiográficas, labilidade do INR (índice internacional normalizado) e adesões terapêuticas. A análise dos dados foi apresentada em tabelas de dados de dupla entrada. Qui-quadrado, intervalos de confiança e Odds ratio foram estimados. Resultados: foram grupo significativo idade de 75 anos, sexo masculino, a hipertensão, a presença de placas ateromatosas nas artérias aorta e carótida, diabetes mellitus, INR sub-óptima, a baixa adesão. Conclusões: o grupo de idade de 75 anos, sexo masculino, fumar, hipertensão, diabetes mellitus, placas aterosclericas na aorta e carótida, INR sub-tima e a fraca adesão constituem factores de risco importantes para a ocorrência de complicações tromboembólicas cerebrais(AU)