Entrando en el manejo 2.0 de la cistinuria con una herramienta médica digital para monitorizar el pH de la orina: un estudio prospectivo y aleatorizado / Entering into 2.0 cystinuria management with a medical digital tool to monitor urine pH: A prospective, randomized study

Introducción y objetivos Las personas con cistinuria pueden experimentar eventos recurrentes de litiasis debido a la relativa insolubilidad de la cistina en el pH fisiológico de la orina, lo que resulta en deterioro de la función renal. El pHmetro Lit-Control® es un dispositivo médico que permite la automedición precisa del pH de la orina. El objetivo principal de este estudio fue comparar la usabilidad del pHmetro Lit-Control® con las tiras reactivas para la automonitorización domiciliaria del pH urinario por parte de pacientes con cistinuria, y su satisfacción general con cada herramienta.Pacientes y métodosSe incluyeron 28 pacientes (9 mujeres y 19 varones, de 19 a 76 años), que fueron asignados aleatoriamente a monitorizar su pH urinario con tiras reactivas (n=17) o el pHmetro Lit-Control® (n=11).ResultadosDespués de 6 meses de uso, la satisfacción con los 2 métodos fue similarmente alta, pero los pacientes calificaron (en una escala de 0 a 10) mejor el pHmetro en términos de facilidad de aprendizaje (media± DE, 8,11±0,60 vs. 7,06±1,18; p=0,038), facilidad de preparación (8,22±0,67 vs. 7,25±1,18; p=0,034) y facilidad de uso (8,22±0,67 vs. 7,25±1,39; p=0,062). En general, los pacientes no alcanzaron los objetivos de alcalinización (pH entre 7,0 y 8,0).ConclusionesEl pHmetro Lit-Control® demostró ser un dispositivo fácil de usar que puede facilitar el control del pH urinario en los pacientes con cistinuria. Queda justificado un estudio prospectivo para evaluar la correlación entre la monitorización del pH de la orina, una estrategia de tratamiento por objetivo y la recurrencia de los cálculos de cistina. (AU)

Background and objectives Individuals with cystinuria can experiment recurrent lithiasis events due to the relative insolubility of cystine at physiological urine pH, resulting in renal function decline. The Lit-Control® pH Meter is a medical device that accurately allows urine pH self-monitoring. The main objective of this study was to compare the usability of the Lit-Control® pH Meter with the reactive strips for self-monitoring of urinary pH at home by patients with cystinuria, and their overall satisfaction with each tool.Patients and methodsWe included 28 patients (9 females and 19 males, age 19-6 years), who were randomly assigned to monitor their urine pH with reactive strips (n=17) or the Lit-Control® pH Meter (n=11).ResultsAfter six months of use, the satisfaction with the two methods was similarly high, but the patients rated (0-10 scale) the pH meter better in terms of ease of learning (mean±SD, 8.11±0.60 vs. 7.06±1.18; P=.038), ease to prepare (8.22±0.67 vs. 7.25±1.18; P=0.034), and ease of use (8.22±0.67 vs. 7.25±1.39; P=.062). Overall, patients did not reach the alkalinization goals (pH between 7.0 and 8.0).ConclusionsThe Lit-Control® pH Meter demonstrated to be an easy-to-use device that can facilitate urinary pH control by cystinuric patients. A prospective study is warranted to assess the correlation between urine pH monitoring, a treat to target approach, and the recurrence of cystine stones. (AU)

Entering into 2.0 cystinuric management with a medical digital tool to monitor urine pH: a prospective, randomized study.

BACKGROUND AND OBJECTIVES: Individuals with cystinuria can experiment recurrent lithiasis events due to the relative insolubility of cystine at physiological urine pH, resulting in renal function decline. The Lit-Control® pH Meter is a medical device that accurately allows urine pH self-monitoring. The main objective of this study was to compare the usability of the Lit-Control® pH Meter with the reactive strips for self-monitoring of urinary pH at home by patients with cystinuria, and their overall satisfaction with each tool. PATIENTS AND METHODS: We included 28 patients (9 females and 19 males, age 19-76 years), who were randomly assigned to monitor their urine pH with reactive strips (n = 17) or the Lit-Control® pH-meter (n = 11). RESULTS: After six months of use, the satisfaction with the two methods was similarly high, but the patients rated (0-10 scale) the pH meter better in terms of ease of learning (mean ±â€¯SD, 8.11 ±â€¯0.60 vs. 7.06 ±â€¯1.18; P = 0.038), ease to prepare (8.22 ±â€¯0.67 vs. 7.25 ±â€¯1.18; P = 0.034), and ease of use (8.22 ±â€¯0.67 vs. 7.25 ±â€¯1.39; P = 0.062). Overall, patients did not reach the alkalinization goals (pH between 7.0 and 8.0). CONCLUSIONS: The Lit-Control® pH Meter demonstrated to be an easy-to-use device that can facilitate urinary pH control by cystinuric patients. A prospective study is warranted to assess the correlation between urine pH monitoring, a treat to target approach, and the recurrence of cystine stones.

CYB5R3 homozygous pathogenic variant as a rare cause of cyanosis in the newborn.

Detailed below is a very illustrative case of a rare pathology of recessive congenital methemoglobinemia. The patient, a newborn female, was homozygous for c.535G > A, p.(Ala179Thr) a pathogenic variant in the CYB5R3 gene. The reported population frequency of the allele is 0.853%, demonstrating why it is remarkable to find both parents are heterozygous carriers without consanguinity. A brief review of previously published cases is also presented.

Update of the SFMV (French society of vascular medicine) guidelines on the conditions and safety measures necessary for thermal ablation of the saphenous veins and proposals for unresolved issues.

Venous insufficiency is a very common disease affecting about 25% of the French population (if we combine all stages of its progression). It is a complex disease and its aetiology has not yet been fully elucidated. Some of its causes are well known, such as valvular dysfunction, vein wall defect, and the suctioning effect common to all varicose veins. These factors are generally associated and together lead to dysfunction of one or more of the saphenous veins. Saphenous vein dysfunction is revealed by ultrasound scan, a reflux lasting more than 0.5 seconds indicating venous incompetence. The potential consequences of saphenous vein dysfunction over time include: symptoms (heaviness, swellings, restlessness, cramps, itching of the lower limbs), acute complications (superficial venous thrombosis, varicose bleeding), chronic complications (changes in skin texture and colour, stasis dermatitis, eczema, vein atresia, leg ulcer), and appearance of unaesthetic varicose veins. It is not possible to repair an incompetent saphenous vein. The only therapeutic options at present are ultrasound-guided foam sclerotherapy, physical removal of the vein (saphenous stripping), or its thermal ablation (by laser or radiofrequency treatment), the latter strategy having now become the gold standard as recommended by international guidelines. Recommendations concerning thermal ablation of saphenous veins were published in 2014 by the Société française de médecine vasculaire. Our society has now decided to update these recommendations, taking this opportunity to discuss unresolved issues and issues not addressed in the original guidelines. Thermal ablation of an incompetent saphenous vein consists in destroying this by means of a heating element introduced via ultrasound-guided venous puncture. The heating element comprises either a laser fibre or a radiofrequency catheter. The practitioner must provide the patient with full information about the procedure and obtain his/her consent prior to its implementation. The checklist concerning the interventional procedure issued by the HAS should be validated for each patient (see the appended document).

Obstrucción intestinal como manifestación del síndrome de Pallister-Killian / Intestinal obstruction as a manifestation of Pallister-Killian syndrome

El síndrome de Pallister-Killian (SPK) es una alteración genética rara, no hereditaria y esporádica, que se produce por un mosaicismo para la tetrasomía del brazo corto del cromosoma 12. Se manifiesta con un fenotipo típico, que se caracteriza por un aspecto facial tosco, el labio de Pallister, una nariz corta con narinas antevertidas, un puente nasal plano, hipertelorismo, orejas de implantación baja y malformadas, alopecia en la región bitemporal, anomalías en las extremidades, pigmentación irregular con manchas acrómicas e hipercrómicas y uñas hipoplásicas. Se asocia frecuentemente a hernia diafragmática, alteraciones cardiovasculares y malformaciones anorrectales. Presentamos el primer caso descrito en la literatura de SPK que se manifiesta con un cuadro de obstrucción intestinal (AU)

Pallister-Killian syndrome (PKS) is a rare, non-hereditary, sporadic mosaicism genetic disorder, caused by tetrasomy of the short arm of chromosome 12. It is expressed with a typical phenotype characterized by coarse face with broad, Pallister lip, short nose with anteverted nostrils, flat nasal bridge, hypertelorism, low and malformed ears implantation, bitemporal alopecia, limb abnormalities, irregular pigmentation with achromic and hyperchromic spots and hypoplasic nails. Frequently associated with diaphragmatic hernia, cardiovascular and anorectal malformations. We report the first case in the literature of PKS with associated symptoms of functional intestinal obstruction (AU)

La Unidad de Neonatología del Hospital Universitario Miguel Servet en la actualidad. Nuevos retos / Neonatology Unit of the Hospital Universitario Miguel Servet at present: new challenges

La presente revisión resume las características de la actual Unidad de Neonatología del Hospital Universitario Miguel Servet en Zaragoza. La Unidad de Neonatología es una unidad de nivel IIIB de acuerdo con la clasificación del Comité de Estandares y la Junta Directiva de la Sociedad Espñola de Neonatología de 2013, siendo la unidad neonatal de referencia de la Cornunidad Autónoma de Aragón. En una primera aproximación, se describen la misión, visión y valores, seguido de una resña estructural y de la cartera de servicios de la Unidad de Neonatología. La actividad asistencia de la Unidad de Neonatología se presenta teniendo en cuenta tanto la hospitalización neonatal como el seguimiento ambulatorio en el área de consultas externas. La actividad docente e investigadora son otros aspectos importantes a considerar en la actual Unidad de Neonatología. Finalmente se revisan los retos de la Unidad de Neonatología para los proximos afios (AU)

This review summarizes the characteristics of the current Neonatology Unit of the Universitary Hospital Miguel Servet in Zaragoza. The Neonatology Unit is a type IIIB unit according to the classification of the Standards Committee and the Board of the Spanish Society of Neonatology in 2013, being the reference neonatal unit for the Autonomous Community of Aragon. In a first approximation, the mission, vision and values are described, followed by a structural review and all the services that de Neonatology Unit provides. The health care activity of the Neonatology Unit is presented taking care of neonatal hospitalization and its subsequent follow-up out patient clinic. The teaching and investigation activity is another important aspect to consider in the current Neonatology Unit. Finally, the challenges of the Neonatology Unit for the next years are been reviewed (AU)

Utilidad de la oximetría cerebral en el manejo de la persistencia del conducto arterioso / Cerebral oximetry in the management of ductus arteriosus

No disponible

Síndrome de CHARGE: una nueva mutación en el gen CHD7 / CHARGE syndrome: A new mutation in the CHD7 gene

No disponible

[Development of a professional social responsibility questionnaire for physicians]. / Construcción y análisis psicométrico de un cuestionario para evaluar el comportamiento médico socialmente responsable.

BACKGROUND: Professional Social Responsibility is now imperative for the practice of medicine. However, there are no instruments to assess it among physicians. AIM: To construct and evaluate the factorial structure and reliability of a questionnaire designed to measure socially responsible behavior in physicians. MATERIAL AND METHODS: The Questionnaire on Medical Socially Responsible Behavior, consisting of 34 items, was constructed. It was applied to 284 physicians and medical students. After eliminating respondents who omitted questions, a valid sample of 214 individuals aged 23 to 67 years (51.4% males) was obtained. We assessed the factorial structure, reliability, discriminative ability of the items and correlation between factors. RESULTS: Exploratory factorial analysis, conducted using the principal axis method, identified the presence of three factors and considered 30 items. The reliability of the factors, assessed using Cronbach's alpha, ranged from 0.73 to 0.89. Only one item had a low correlation of 0.3. Correlations between the three factors were direct and high. CONCLUSIONS: The developed questionnaire presents a definite factorial structure, with internally consistent and correlated factors and with adequate psychometric properties.

Atresia de esófago: estudio descriptivo de una serie de 34 pacientes / Oesophageal atresia: descriptive study of a 34 patients serie

Introducción: La atresia de esófago (AE) comprende un grupo de malformaciones congénitas digestivas por un defecto en la continuidad del esófago. Supone una urgencia quirúrgica neonatal, y requiere un diagnóstico y un tratamiento inmediatos. La incidencia en las distintas series revisadas es de 1:2.500-3.500 recién nacidos. Objetivos: Conocer la epidemiología, la clínica y la evolución de los pacientes con AE tratados en nuestro centro. Pacientes y métodos: Estudio descriptivo y retrospectivo de pacientes ingresados por AE en un hospital terciario en los últimos 6 años. Resultados: Se incluyeron 34 recién nacidos, 15 de los cuales nacieron intramuros (incidencia de 1:1.833); un 61,8% eran varones y un 38,2% mujeres (relación de 1,5:1); la media de la edad gestacional fue de 37,12 ± 2,6 semanas, y la media de peso de 2.516,56 ± 599 g; la edad materna media se situó en 32,76 ± 5,78 años; el 11,8% presentó diabetes gestacional y un 38,2% abortos previos. En las ecografías prenatales, el 47,1% presentó polihidramnios. La distribución por tipo de AE fue la siguiente: I (14,7%), III (82,4%) y IV (2,9%). El síntoma guía principal fue la hipersalivación (38,2%). Un 30% presentó complicaciones postoperatorias; el esofagograma postintervención fue normal en un 80% de los casos. Un 38,2% de los pacientes asoció otras malformaciones; el número medio de días que los pacientes permanecieron sometidos a ventilación asistida fue de 7,66 ± 6,34, y el promedio de días que recibieron nutrición parenteral de 11,27 ± 7. La tasa de fallecimientos fue del 11,8%. Conclusiones: En nuestro medio encontramos una incidencia mayor que la documentada en la bibliografía, aunque una concordancia en la distribución según el tipo de atresia, el sexo y las malformaciones asociadas. También fueron mayores las tasas de diabetes gestacional y abortos previos en nuestra serie. La mortalidad dependió del peso del recién nacido y las malformaciones cardiacas asociadas; en nuestro estudio encontramos uno o ambos factores en los fallecimientos de nuestra serie (AU)

Introduction: Oesophageal atresia (OA) comprises a group of digestive malformations caused by a defect in the continuity of the oesophagus. It entails a neonatal surgical emergency, requiring immediate diagnosis and treatment. The revised incidence in different series is 1:2500-3500 newborns. Objectives: To determine the epidemiology and clinical course of patients with OA treated in our center. Patients and methods: Retrospective and descriptive study of patients admitted for OA in a tertiary hospital in the last 6 years. Results: 34 infants, 15 of whom were born in our hospital (incidence 1:1,833), 61.8% male, 38.2% female (ratio 1.5:1); gestational age 37.12 ± 2.6 weeks; weight at birth 2,516.56 ± 599 g, the average age of their mothers was 32.76 ± 5.78 years; 11.8% had gestational diabetes and 38.2% had previous abortions. In prenatal ultrasound, 47.1% had polyhydramnios. The distribution by type of OA was: I (14.7%), III (82.4%), IV (2.9%). The main guiding symptom was hypersalivation (38.2%). 30% presented postoperative complications; postintervention esophagogram was normal in 80%. 38.2% of patients had other malformations; they pointed an average of assisted ventilation were 7.66 ± 6.34 days and parenteral nutrition 11.27 ± 7 days. Exitus rate: 11.8%. Conclusions: In our area we found a greater incidence than reported in literature with consistency in distribution by type of atresia, sex and associated malfomations. Gestational diabetes and previous abortions rates were higher. Mortality depends on birth weight and associated cardiac malformations, finding one or both criteria in the exitus of our serie (AU)

Proteinuria y litiasis renal: ¿asociación causal o casual? / Proteinuria and renal stones: A causal or casual relationship?

No disponible

Factors predicting distress among parents/caregivers of children with neurological disease and home enteral nutrition.

BACKGROUND & AIMS: Caregivers of children with chronic diseases included in a home enteral nutrition (HEN) programme are at risk of experiencing a feeling of burden, high level of anxiety and psychological distress. The aims of this study were: first, to examine the prevalence of symptoms of anxiety-depression in caregivers of children with neurological diseases requiring HEN by gastrostomy tube (GT); second, to compare the characteristics of caregivers with high or low risk of exhibiting symptoms of anxiety-depression; and third, to investigate possible associations to child disease severity and nutrition support mode. METHODS: A cross-sectional observational study was performed in 58 caregivers of children (31 boys, aged 0.3-18 years) with neurological diseases and GT feeding. The characteristics of caregivers with high or low risk of presenting symptoms of anxiety-depression were compared regarding the following variables: socio-demographic characteristics, the primary caregiver's intrapsychic factors, anthropometric parameters of the child, length of HEN, type of nutrients delivered by GT and infusion regime. RESULTS: All primary caregivers were mothers. Fifty-three per cent of them showed high risk of exhibiting symptoms of anxiety-depression. Mothers with high or low risk of presenting symptoms of anxiety-depression were comparable in age and family socio-economic status. They were also similar in terms of age, anthropometric conditions and length of HEN in their children.No differences were found between the two groups of mothers according to the level of the child's motor function impairment, type of nutrients delivered by GT and infusion regime. Higher levels of psychological distress and perception of burden overload were found in mothers with high risk of exhibiting symptoms of anxiety-depression. CONCLUSIONS: This study found a high prevalence of symptoms of anxiety-depression, perception of burden overload and psychological distress in caregivers of children with HEN. Thus, greater practical and emotional support is required for these families.

Documento de consenso sobre el manejo de la patología renal en pacientes con infección por VIH / Consensus document on the management of renal disease in HIV-infected patients

OBJETIVO: Actualizar las recomendaciones sobre la evaluación y el manejo de la afectación renal en pacientes con infección por el virus de la inmunodeficiencia humana (VIH). MÉTODOS: Este documento ha sido consensuado por un panel de expertos del Grupo de Estudio de Sida (GESIDA) de la Sociedad Española de Enfermedades Infecciosas y Microbiología Clínica (SEIMC), de la Sociedad Española de Nefrología (S.E.N.) y de la Sociedad Española de Química Clínica y Patología Molecular (SEQC). Para la valoración de la calidad de la evidencia y la graduación de las recomendaciones se ha utilizado el sistema Grading of Recommendations Assessment, Development and Evaluation (GRADE). RESULTADOS: La evaluación renal debe incluir la medida de la concentración sérica de creatinina, la estimación del filtrado glomerular (ecuación chronic kidney disease epidemiological collaboration [CKD-EPI]), la medida del cociente proteína/creatinina en orina y un sedimento urinario. El estudio básico de la función tubular ha de incluir la concentración sérica de fosfato y la tira reactiva de orina (glucosuria). En ausencia de alteraciones, el cribado será anual. En pacientes tratados con tenofovir o con factores de riesgo para el desarrollo de enfermedad renal crónica (ERC), se recomienda una evaluación más frecuente. Se debe evitar el uso de antirretrovirales potencialmente nefrotóxicos en pacientes con ERC o factores de riesgo para evitar su progresión. En este documento se revisan las indicaciones de derivación del paciente a Nefrología y las de la biopsia renal, así como las indicaciones y la evaluación y el manejo del paciente en diálisis o del trasplante renal. CONCLUSIONES: La función renal debe monitorizarse en todos los pacientes con infección por el VIH y este documento pretende optimizar la evaluación y el manejo de la afectación renal.(AU)

OBJECTIVE: To update the 2010 recommendations on the evaluation and management of renal disease in HIV-infected patients. METHODS: This document was approved by a panel of experts from the AIDS Working Group (GESIDA) of the Spanish Society of Infectious Diseases and Clinical Microbiology (SEIMC), the Spanish Society of Nephrology (S.E.N.), and the Spanish Society of Clinical Chemistry and Molecular Pathology (SEQC). The quality of evidence and the level of recommendation were evaluated using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) system. RESULTS: The basic renal work-up should include measurements of serum creatinine, estimated glomerular filtration rate by CKD-EPI, Urine protein-to-creatinine ratio, and urinary sediment. Tubular function tests should include determination of serum phosphate levels and urine dipstick for glucosuria. In the absence of abnormal values, renal screening should be performed annually. In patients treated with tenofovir or with risk factors for chronic kidney disease (CKD), more frequent renal screening is recommended. In order to prevent disease progression, potentially nephrotoxic antiretroviral drugs are not recommended in patients with CKD or risk factors for CKD. The document advises on the optimal time for referral of a patient to the nephrologist and provides indications for renal biopsy. The indications for and evaluation and management of dialysis and renal transplantation are also addressed. CONCLUSIONS: Renal function should be monitored in all HIV-infected patients. The information provided in this document should enable clinicians to optimize the evaluation and management of HIV-infected patients with renal disease.(AU)

Recomendaciones dietéticas en la litiasis de oxalato cálcico / Dietary recommendations in calcium oxalate lithiasis

La dieta puede afectar a los enfermos con litiasis oxálica, aumentando los factores de riesgo para la formación. Una vez completado el estudio metabólico se deben dar algunas normas dietéticas basadas en los datos científicos disponibles. Existen pocos trabajos que hayan analizado de forma completa el contenido de oxalatos en los alimentos de la dieta humana. Se debe insistir en la ingesta hídrica abundante, la reducción de sal y de proteínas animales, manteniendo un correcto aporte de calcio. En el presente trabajo se adjuntan algunas tablas de contenidos de oxalato en diversos alimentos. Los más ricos en oxalato (acelgas, espinacas, coliflor, té, cacao, kiwis) deben ser restringidos

Diet affect oxalic lithiasis patients, increasing the risk factors for stone formation. Upon completion of the metabolic study should give some dietary guidelines based on scientific data. Few studies have analyzed completely the oxalate content in foods of the human diet. It must be emphatized abundant fluid intake, reducing salt and animal protein, maintaining proper calcium intake. In this paper, some tables about oxalate content in various foods are attached. Most rich in oxalate (chard, spinach, cauliflower, tea, cocoa, kiwis) must be restricted