Fibroblast growth factor-23 and renin-angiotensin system levels in vitamin-D-dependent rickets type I.

BACKGROUND: As 1,25(OH)2D3 vitamin D3 induces fibroblast growth factor-23 (FGF-23) production and suppresses the renin-angiotensin-aldosterone system (RAAS), its absence in vitamin-D-dependent rickets type I (VDDR-I) may have adverse health consequences. CASE DESCRIPTION: An infant presented at age 8 months with hypocalcemia and rickets and very low 1,25(OH)2D3 levels. Genetic analysis confirmed VDRR-I, and calcitriol therapy was initiated. During periods of nonadherence to therapy, chemical measurements revealed detectable FGF-23 levels, with undetectable 1,25(OH)2D3, hypophosphatemia, low tubular reabsorption of phosphate, hypocalcemia, and very elevated parathyroid hormone (PTH) levels. These changes, in addition to elevated RAAS levels, normalized during calcitriol therapy despite elevated FGF-23 levels. At age 12 years, all rachitic manifestations were absent, and bone mineral density (BMD) and the echocardiogram were normal. CONCLUSIONS: Whereas 1,25(OH)2D3 is not indispensable for FGF-23 production, PTH in the absence of vitamin D may maintain FGF-23 secretion despite hypocalcemia. Normalization of urinary phosphate losses despite elevated FGF-23 during calcitriol-mediated suppression of secondary hyperparathyroidism points to a cardinal role of PTH as a cause of the phosphaturia in VDRR-I. Normalization of RAAS by calcitriol may conceivably prevent adverse cardiovascular outcomes.

Treatment variability and its relationships to outcomes among patients with Wernicke's encephalopathy: A multicenter retrospective study.

BACKGROUND: Despite guidelines and recommendations, Wernicke's encephalopathy (WE) treatment lacks evidence, leading to clinical practice variability. AIMS: Given the overall lack of information on thiamine use for WE treatment, we analyzed data from a large, well-characterized multicenter sample of patients with WE, examining thiamine dosages; factors associated with the use of different doses, frequencies, and routes; and the influence of differences in thiamine treatment on the outcome. METHODS: This retrospective study was conducted with data from 443 patients from 21 centers obtained from a nationwide registry of the Spanish Society of Internal Medicine (from 2000 to 2012). Discharge codes and Caine criteria were applied for WE diagnosis, and treatment-related (thiamine dosage, frequency, and route of administration) demographic, clinical, and outcome variables were analyzed. RESULTS: We found marked variability in WE treatment and a low rate of high-dose intravenous thiamine administration. Seventy-eight patients out of 373 (20.9%) received > 300mg/day of thiamine as initial dose. Patients fulfilling the Caine criteria or presenting with the classic WE triad more frequently received parenteral treatment. Delayed diagnosis (after 24h hospitalization), the fulfillment of more than two Caine criteria at diagnosis, mental status alterations, and folic acid deficiency were associated significantly with the lack of complete recovery. Malnutrition, reduced consciousness, folic acid deficiency, and the lack of timely thiamine treatment were risk factors for mortality. CONCLUSIONS: Our results clearly show extreme variability in thiamine dosages and routes used in the management of WE. Measures should be implemented to ensure adherence to current guidelines and to correct potential nutritional deficits in patients with alcohol use disorders or other risk factors for WE.

Ureaplasma parvum Septic Arthritis, a Clinic Challenge.

Ureaplasma parvum is usually part of the normal genital microbiota. Rarely, it can cause invasive infections such as septic arthritis or meningitis. A case of a 74-year-old woman with follicular lymphoma who developed cellulitis followed by elbow arthritis with negative routine bacterial cultures is described. U. parvum was identified in the synovial fluid using a broad-range 16S ribosomal RNA gene polymerase chain reaction (PCR) and also in vaginal fluid by a targeted PCR (Anyplex™ II STI-7). Multilocus Sequence Typing (MLST) revealed that isolates from both sources belonged to ST4, a worldwide distributed clone. Treatment consisted of surgery and targeted antibiotic therapy with doxycycline and azithromycin. Evolution showed initial clinical improvement in arthritis despite functional sequelae. Ureaplasma arthritis should be considered as a rare cause of arthritis in negative culture, especially in immunosuppressed patients. In these cases, the treatment is not well established, but according to this and previous works, patients could improve with doxycycline, azithromycin or fluoroquinolone therapy on a prolonged basis.

Alcoholic Liver Disease Among Patients with Wernicke Encephalopathy: A Multicenter Observational Study.

BACKGROUND: data regarding the association between Wernicke encephalopathy (WE) and alcoholic liver disease (ALD) are scarce in spite of alcohol consumption being the main risk factor for WE. AIMS: to describe the frequency of ALD in a cohort of patients diagnosed with WE and alcohol use disorders (AUDs) and to compare the characteristics of WE patients with and without ALD. METHODS: we conducted an observational study in 21 centers through a nationwide registry of the Spanish Society of Internal Medicine. WE Caine criteria were applied and demographic, clinical, and outcome variables were analyzed. RESULTS: 434 patients were included in the study, of which 372 were men (85.7%), and the mean age was 55 ± 11.8 years. ALD was present in 162 (37.3%) patients and we found a higher percentage of cases with tremor, flapping and hallucinations in the ALD group. A total of 22 patients (5.0%) died during admission (7.4% with ALD vs 3.7% without ALD; P = 0.087). Among the ALD patients, a relationship between mortality and the presence of anemia (Odds ratio [OR]=4.6 Confidence interval [CI]95% 1.1-18.8; P = 0.034), low level of consciousness (OR=4.9 CI95% 1.1-21.2; P = 0.031) and previous diagnosis of cancer (OR=10.3 CI95% 1.8-59.5; P = 0.009) was detected. Complete recovery was achieved by 27 patients with ALD (17.8%) and 71 (27.8%) without ALD (P = 0.030). CONCLUSION: the association of WE and ALD in patients with AUDs is frequent and potentially linked to differences in clinical presentation and to poorer prognosis, as compared to alcoholic patients with WE without ALD.

Fibroblast growth factor 23 and tubular sodium handling in young patients with incipient chronic kidney disease.

BACKGROUND: Experimental studies have shown fibroblast growth factor 23 (FGF23)-mediated upregulation of the distal tubule sodium/chloride (Na+Cl-) co-transporter leading to increased Na reabsorption, volume expansion and hypertension. However, data on the associations of FGF23 with renal Na regulation and blood pressure (BP) are lacking in young CKD patients. METHODS: FGF23 and other determinants of mineral metabolism, plasma renin activity (PRA), fractional excretion of Na (FENa) and BP, were analyzed at a single center in 60 patients aged 5-22 years with CKD Stages 1 (n = 33) and Stages 2-3 (n = 27) defined by cystatin C- and creatinine-based estimating equations (estimated glomerular filtration rate, eGFR). Associations between FGF23 and renal Na handling were explored by regression analysis. RESULTS: Median FGF23 levels were higher in CKD Stages 2-3 versus CKD 1 (119 versus 79 RU/mL; P < 0.05), with hyperparathyroidism [parathyroid hormone (PTH) >69 pg/mL] in only few subjects with CKD Stages 2-3. Median FENa was comparable in both subgroups, but with proportionally more values above the reference mean (0.55%) in CKD Stages 2-3 and 3-fold higher (1.6%) in CKD Stage 3. PRA was higher in CKD Stages 2-3 (P < 0.05). Meanwhile in CKD Stage 1, FGF23 did not associate with FENa, and in CKD Stages 2-3 FGF23 associated positively with FENa (r = 0.4; P < 0.05) and PTH (r = 0.45; P < 0.05), and FENa associated with FE of phosphate (r = 0.6; P < 0.005). Neither FGF23 nor FENa was associated with systolic or diastolic BP in either subgroup. The negative association of eGFR by cystatin with FENa remained the strongest predictor of FENa by multivariable linear regression in CKD Stages 2-3. CONCLUSIONS: The elevated FGF23, FENa and PRA and the positive association of FGF23 with FENa do not suggest FGF23-mediated increased tubular Na reabsorption and volume expansion as causing hypertension in young patients with incipient CKD.

Knee chondral lesions treated with autologous chondrocyte transplantation in a tridimensional matrix: clinical evaluation at 1-year follow-up.

BACKGROUND: Despite the many studies on chondral injury repair, no outcomes have been evaluated with the Western Ontario and McMaster (WOMAC) Universities osteoarthritis index, the Knee Injury and Osteoarthritis Outcome Score (KOOS), and the Oxford Knee Score, all of which are specific for evaluating the presence of osteoarthritis. MATERIALS AND METHODS: We evaluated the clinical progress of patients following autologous chondrocyte implantation (ACI) performed by our Bone and Tissue Bank using a technique in which cells, instead of being introduced to the articular defect in a liquid form, are implanted into a tridimensional matrix of semisolid collagen (Condrograft((R))). A total of 22 patients underwent the procedure, 15 of whom were available for a 1-year follow-up that included clinical evaluation by WOMAC score before and after surgery and KOOS and the Oxford Knee Score after surgery. RESULTS: The results were improved WOMAC score from 56.4 before surgery to 16.2 after surgery (P < 0.002), average KOOS score of 83.6, and average Oxford Knee Score of 18.8. CONCLUSIONS: These results indicate that our tridimensional matrix technique effectively improved patients' quality of life, at least in the short term, and delayed any subsequent procedure. Long-term assessment is necessary to determine the true value of this technique.

Differences Between Alcoholic and Nonalcoholic Patients With Wernicke Encephalopathy: A Multicenter Observational Study.

OBJECTIVE: To analyze the differences in characteristics and prognosis between alcoholic and nonalcoholic patients with Wernicke encephalopathy (WE). PATIENTS AND METHODS: A retrospective observational cohort of 468 patients diagnosed with WE with at least 2 Caine criteria was selected from all patients discharged with a diagnosis of WE from 21 medical centers in Spain from January 1, 2000, through December 31, 2012. Demographic, clinical, and outcome variables were described. RESULTS: Among the 468 patients, the most common risk factor was alcoholism (n=434 [92.7%]). More than one-third of patients (n=181 [38.7%]) had the classic WE triad of symptoms (ocular signs, cerebellar dysfunction, and confusion). Among 252 patients for whom magnetic resonance imaging data were available, 135 (53.6%) had WE-related lesions and 42 (16.7%) had cerebellar lesions. Of the 468 patients, 25 (5.3%) died during hospitalization. Alcoholic patients presented more frequently than nonalcoholic patients with cerebellar signs (P=.01) but less frequently with ocular signs (P=.02). Alcoholic patients had a significantly higher frequency of hyponatremia (P=.04) and decreased platelet count (P=.005) compared with nonalcoholics. Alcoholic patients were diagnosed earlier than nonalcoholics (median time to diagnosis, 1 vs 4 days; P=.001) and had shorter hospitalizations (13 vs 23 days; P=.002). CONCLUSION: Compared with nonalcoholic patients, alcoholic patients with WE are more likely to present with cerebellar signs and less likely to have ocular signs. Diagnosis may be delayed in nonalcoholic patients. Mortality in the present series was lower than described previously.

Infección por SARS-CoV-2 asociada a diplopía y anticuerpos antirreceptor de acetilcolina / SARS-CoV-2 infection associated with diplopia and anti-acetylcholine receptor antibodies

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Behavior of plasma hemoglobin in an experimental model of occlusive mesenteric ischemia.

The difficulties in establishing the diagnosis of mesenteric ischemia are responsible for the high mortality rate that is associated with this clinical condition. We studied the behavior of plasma hemoglobin in an experimental model of occlusive mesenteric ischemia in mice. Our results showed a clear relationship between the duration of ischemia and plasma hemoglobin levels. With regard to the time frames studied (3 hours, 6 hours, 12 hours, and 24 hours), comparison with control groups produced calculated P values of less than 0.01 for all time frames with the exception of the 3-hour group. This test may have the potential to aid in the diagnosis of mesenteric ischemia as well as the follow-up of its course after various therapeutic approaches.

Open tracheostomy in patients with dual platelet aggregation inhibitors: case series / Traqueostomía abierta en pacientes con antiagregación plaquetaria dual: Serie de casos

Abstract Introduction: Tracheostomy is the most common surgical procedure performed in the intensive care unit (ICU). There is a paucity of evidence regarding complications in patients on dual anti-platelet therapy. Objective: To describe the complications arising in critically ill patients on dual antiplatelet therapy who are subjected to open tracheostomy. Method: Descriptive observational study of a retrospective case series of patients admitted to the ICU between June 2011 and December 2016, scheduled to undergo open tracheostomy. Results: Overall, 52 patients met the inclusion criteria and, of them, 14 were excluded. Postoperatively, 4 patients (10.5%) had major bleeding and 2 (5.3%) had minor bleeding. Only 1 patient (2.6%) required transfusion secondary to tracheostomy-related bleeding. No patient required fiberoptic bronchoscopy due to bleeding. Reintervention was needed in 10.5% of patients (n=4). No tracheostomy-related mortality was reported. Conclusion: Although 10.5% of patients had major bleeding, there was no impact on mortality. This study showed that, in patients with recent major cardiovascular events, there is no need to discontinue dual antiplatelet therapy or delay tracheostomy.

Resumen Introducción: La traqueostomía es el procedimiento quirúrgico más frecuentemente realizado en la Unidad de Cuidado Intensivo. La evidencia respecto a las complicaciones en pacientes con antiagregación plaquetaria dual es escasa. Objetivo: Describir las complicaciones que se presentan en pacientes críticos en manejo con terapia antiagregante plaquetaria dual, sometidos a traqueostomía abierta. Método: Estudio observacional descriptivo, serie de casos retrospectiva de pacientes hospitalizados en la Unidad de Cuidado Intensivo desde junio de 2011 hasta diciembre de 2016, programados para traqueostomía abierta. Resultados: 52 pacientes cumplieron criterios de inclusión, de los cuales se excluyó a 14. No se presentaron complicaciones durante la realización de la traqueostomía. En el posoperatorio, cuatro pacientes (10.5%) presentaron sangrado mayor y dos (5.3%) presentaron sangrado menor. Solo un paciente (2.6%) requirió transfusión secundaria a sangrado por traqueostomía. Ningún paciente requirió fibrobroncoscopia por sangrado. En un 10.5% de los pacientes (n:4) hubo necesidad de reintervención. No se reportó mortalidad por causa de la traqueostomía. Conclusiones: Aunque el 10.5% de los pacientes presentaron sangrado mayor, no hubo impacto en la mortalidad. El presente estudio mostró que en pacientes con evento cardiovascular mayor reciente no es necesario suspender la antiagregación dual ni diferir la realización de la traqueostomía.

Descripción de la jerarquía de controles frente al peligro químico por exposición a compuestos orgánicos volátiles generados por procesos de pintura en el sector industrial / Description of the Hierarchy of Controls Regarding Chemical Hazard for Exposure to Volatile Organic Compounds Generated by Painting Processes in Industry / Descrição da jerarquia de controles pela exposição ao perigo quimico por compostos orgánicos voláteis gerados de processos de pintura no setor industrial

En los procesos de pintura de las industrias automotriz, metalmecánica, transformación de madera y construcción se utilizan varias sustancias químicas generadoras de compuestos orgánicos volátiles (COV), las cuales producen efectos adversos en la salud humana y están relacionadas con el grado de toxicidad del agente químico y del tiempo de exposición. El objetivo de este trabajo fue describir la jerarquía de controles existentes frente al peligro químico, por exposición a COV en las industrias mencionadas, con el fin de orientar a las partes interesadas en la implementación de medidas en el ambiente de trabajo y en el individuo, que lleven a un manejo seguro y que permita mitigar los efectos adversos derivados del uso de los COV. La metodología se fundamentó en recopilar y analizar la información existente en higiene industrial y salud en el trabajo de organizaciones como American Conference of Industrial Hy-gienists, National Institute for Occupational Safety and Health, Occupational Safety and Health Administration, International Agency for Research on Cancer, American National Standards Institute, entre otras. Como resultado, se identificaron 107 sustancias químicas como las principales componentes de los productos usados en los procesos de pintura, de los cuales 59 son COV, 12 están en los incluidos dentro de los grupos 1 y 2 de la International Agency for Research on Cancer, 24 cuentan con valor límite permisible por debajo de 100 partes por millón y 19 se encuentran sobre dicho valor; por ello se requieren controles de sustitución, ingeniería e intervenciones de tipo administrativo.

In the painting process of the industries such as automotive, metalworking, woodworking and construction different kind of chemicals are used. Some of them produce volatile organic compounds (VOC) and cause adverse effects on human health, which are related to the degree of toxicity of the chemical and the time of exposure. The target was describe the hierarchy of controls that were performed against chemical hazards related to exposure to volatile organic compounds, in order to advice stakeholders in the implementation of measures at individual and work environment that lead to the safe handling and counteract the adverse effects from the use of VOCs. The methodology was based on collecting and analyzing information from Industrial Hygiene and Health at work of organizations such as American Conference of Industrial Hygienists, National Institute for Occupational Safety and Health, Occupational Safety and Health Administration, International Agency for Research on Cancer, American National Standards Institute, among others. The result of this research identified 107 chemicals as the main components of the products used in the painting process. Among them 59 are VOC, 12 are in groups 1 and 2 of International Agency for Research on Cancer, 24 have TLV below 100 ppm and 19 are on that value, therefore, controls of substitution, engineering and administrative interventions are required.

No processo de pintura automotiva, metalurgia, marcenaria e construção, várias substancias químicas que geram compostos orgánicos voláteis (COV) são usados que causam efeitos adversos na saúde humana, que estão relacionadas com o grau de toxicidade do produto químico e o tempo de exposição. O objetivo era fazer com que a descrição da hierarquia de controles em frente ao perigo químico, exposição a compostos orgánicos voláteis nas indústrias mencionadas acima, a fim de orientar as partes interessadas na implementação de medidas no ambiente de trabalho e do indivíduo, que levam a uma condução segura e ajudar a mitigar os efeitos adversos decorrentes da utilização de compostos orgánicos voláteis. A metodologia foi baseada na coleta e análise de inforniações sobre higiene industrial e saúde no trabalho de organizações como a Conferencia Americana de Higienistas Industriais, Instituto Nacional de Seguranca e Saúde Ocupacional, Occupational Safety and Health Administration, Agencia Internacional para Pesquisa em Cáncer, American National Standards Institute, entre outros. Como resultado, 107 substáncias químicas como os principais componentes dos produtos utilizados no processo de pintura, dos quais 59 são compostos orgánicos voláteis, 12 estão em incluidos nos grupos 1 e 2 Agencia Internacional para Pesquisa em Cáncer, 24 tem TLV abaixo identificado 100 ppm e 19 de mentir sobre esse valor, segundo o qual as intervenções controles de nivel de substituição, engenharia e administrativas necessárias.

Polimiositis como manifestación paraneoplásica de un cáncer gástrico / Polymiositis as a paraneoplastic manifestation of stomach cancer

Se presenta el caso clínico de un hombre de 55 años de edad, en quien se diagnosticó en vida una polimiositis como manifestación paraneoplásica; sin embargo, como no mejoró con el tratamiento esteroideo, se complicó y falleció. El resultado de la necropsia confirmó la presencia de una neoplasia gástrica.

The clinical case of a man aged 55 undergoing polymiositis diagnosis as a paraneoplastic manifestation when he was alive is presented. Nonetheless, his health condition got worse and he died even after receiving the steroid therapy. The necropsy result confirmed the presence of gastric neoplasm.

Fisiopatología de la nutrición en la insuficiencia renal crónica / pathophysiologic of the nutrition in the renal chronic

Se hace una revisión de los principales elementos fisiopatológicos de la nutrición en niños con insuficiencia renal crónica no terminal. Se exponen las dificultades para definir la dieta ideal para estos pacientes, favoreciendo los principios establecidos de ofrecer una carga calórica adecuada que permite el mejor aprovechamiento del tenor proteico calculado bajo restricción. Se analiza la utilidad de los suplementos de aminoacidos de cadena ramificada y de ácidos grasos poliinsaturados. Se explica la importancia de mantener el ambiente bioquímico y metabólico lo mejor controlado, para que los esfuerzos dietéticos cumplan su misión. La acidosis metabólica y los desajustes hormonales son grandes complices en el éxito nutricional, el cual intenta lograr, segun la etiología de la enfermedad, el retardo de otros tratamientos como lo son la diálisis y el trasplante renal

Síndrome de difenilhidantoina fetal / Fetal dyphenylhydantoin syndrome

Se hace la descripción de un neonato con antecedentes familiares importantes de epilepsia, incluyendo a la madre, la cual recibió tratamiento con fenobarbital y difenilhidantonia, durante la gestación, sin obtenerse control de su cuadro convulsivo. Se describen múltiples malformaciones congénitas representativas del síndrome. Se realiza una breve revisión de la literatura mundial, a partir del primer reporte de esta entidad, por Meadow (Inglaterra) en 1968. Se puntualizan los probables factores etiopatogénicos: genético-hereditario, acción específica de la o las drogas anticonvulsivantes, y convulsiones durante el embarazo. Se trata del primer caso en la literatura pediátrica venezolana, altamente representativo por sus manifestaciones clínicas. Se plantea un plan de trabajo sistematizado, para lograr el diagnóstico, que dado a la característica multifactorial de su etiología, es por descarte. Finalmente, se exponen tanto el riesgo genético, como recomendaciones obstétricas y pediátricas, para el manejo de esta situación clínica

Insuscepción: A propósito del caso en un escolar. Revisión de factores relacionados / Intususuception: a purpose of the case of scholar. Revision of related factors

Presentamos un caso de intususcepción íleo-ilea en un escolar de 12 años, de raza blanca, masculino, con historia de hemorragia digestiva inferior rutilante (rectorragia), y dolor abdominal intermitente, cuyo mayor diagnóstico no fue realizado en forma inmediata debido a la concurrencia clínica de hipertensión arterial, eritrocituria intacta e hiperglicemia. Por otra parte, la ecosonografía abdominal no arrojó signos sugestivos. El diagnóstico fue preoperatorio y secundario a pseudopólipo inflamatorio. Se hace revisión bibliográfica sobre la incidencia, clínica, patológica diferencial, factores relacionados y métodos de diagnósticos y tratamiento. Se indican recomendaciones con relación a esta entidad, infrecuente en grupos etarios por encima de los dos años, y la importancia de la ecosonografía, así como las técnicas hidroneumáticas como tratamiento