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).

[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.

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.

[Bronchopulmonary dysplasia: definitions and classifications]. / Displasia broncopulmonar: definiciones y clasificación.

Bronchopulmonary dysplasia is the most common sequelae related to very low birth weight infants, mostly with those of extremely low birth weight. Even with advances in prevention and treatment of respiratory distress syndrome associated with prematurity, there is still no decrease in the incidence in this population, although a change in its clinical expression and severity has been observed. There are, however, differences in its frequency between health centres, probably due to a non-homogeneously used clinical definition. In this article, the Committee of Standards of the Spanish Society of Neonatology wishes to review the current diagnosis criteria of bronchopulmonary dysplasia to reduce, as much as possible, these inter-centre differences.

[Recommendations for neonatal transport]. / Recomendaciones sobre transporte neonatal.

During pregnancy, it is not always possible to identify maternal or foetal risk factors. Infants requiring specialised medical care are not always born in centres providing intensive care and will need to be transferred to a referral centre where intensive care can be provided. Therefore Neonatal Transport needs to be considered as part of the organisation of perinatal health care. The aim of Neonatal Transport is to transfer a newborn infant requiring intensive care to a centre where specialised resources and experience can be provided for the appropriate assessment and continuing treatment of a sick newborn infant. Intrauterine transfer is the ideal mode of transport when the birth of an infant with risk factors is diagnosed. Unfortunately, not all problems can be detected in advance with enough time to safely transfer a pregnant woman. Around 30- 50% of risk factors will be diagnosed during labour or soon after birth. Therefore, it is important to have the knowledge and resources to resuscitate and stabilise a newborn infant, as well as a specialised neonatal transport system. With this specialised transport it is possible to transfer newly born infants with the same level of care that they would receive if they had been born in a referral hospital, without increasing their risks or affecting the wellbeing of the newborn. The Standards Committee of the Spanish Society of Neonatology reviewed and updated recommendations for intrauterine transport and indications for neonatal transfer. They also reviewed organisational and logistic factors involved with performing neonatal transport. The Committee review included the type of personnel who should be involved; communication between referral and receiving hospitals; documentation; mode of transport; equipment to stabilise newly born infants; management during transfer, and admission at the referral hospital.

[Health care levels and minimum recommendations for neonatal care]. / Niveles asistenciales y recomendaciones de mínimos para la atención neonatal.

A policy statement on the levels of care and minimum recommendations for neonatal healthcare was first proposed by the Standards Committee and the Board of the Spanish Society of Neonatology in 2004. This allowed us to define the level of care of each center in our country, as well as the health and technical requirements by levels of care to be defined. This review takes into account changes in neonatal care in the last few years and to optimize the location of resources. Facilities that provide care for newborn infants should be organized within a regionalized system of perinatal care. The functional capabilities of each level of care should be defined clearly and uniformly, including requirements for equipment, facilities, personnel, ancillary services, training, and the organization of services (including transport) needed to cover each level of care.

[A new approach to urinary stone analysis according to the combination of the components: experience with 7949 cases]. / Un nuevo enfoque en el análisis de la litiasis urinaria en función de la combinación de sus componentes: experiencia con 7.949 casos.

OBJECTIVE: To evaluate a new approach to urinary stone analysis according to the combination of the components. MATERIALS AND METHODS: A total of 7949 stones were analysed and their main components and combinations of components were classified according to gender and age. Statistical analysis was performed using the chi-square test. RESULTS: Calcium oxalate monohydrate (COM) was the most frequent component in both males (39%) and females (37.4%), followed by calcium oxalate dihydrate (COD) (28%) and uric acid (URI) (14.6%) in males and by phosphate (PHO) (22.2%) and COD (19.6%) in females (p=0.0001). In young people, COD and PHO were the most frequent components in males and females respectively (p=0.0001). In older patients, COM and URI (in that order) were the most frequent components in both genders (p=0.0001). COM is oxalate dependent and is related to diets with a high oxalate content and low water intake. The progressive increase in URI with age is related mainly to overweight and metabolic syndrome. Regarding the combinations of components, the most frequent were COM (26.3%), COD+Apatite (APA) (15.5%), URI (10%) and COM+COD (7.5%) (p=0.0001). CONCLUSIONS: This study reports not only the composition of stones but also the main combinations of components according to age and gender. The results prove that stone composition is related to the changes in dietary habits and life-style that occur over a lifetime, and the morphological structure of stones is indicative of the aetiopathogenic mechanisms.

[Is patent ductus arteriosus a risk factor for retinopathy of prematurity?]. / ¿Es la persistencia de ductus arterioso un factor de riesgo para la retinopatía del prematuro?

OBJECTIVE: To evaluate whether the presence of patent ductus arteriosus (PDA) increases the rate of retinopathy of prematurity (ROP) or its severity. PATIENTS AND METHOD: A consecutive cohort of premature infants diagnosed with PDA by echocardiography born in the Miguel Servet University Hospital from January 2006 to May 2009 was included in the study. We compared the rate and severity of ROP in this group of patients with a control group of randomly-chosen premature infants with a normal echocardiography. RESULTS: We evaluate a total of 131 premature infants (79 with PDA and 52 without PDA). We found a statistically significant association between the presence of PDA and the rate of ROP (p=0.03) (OR=2.41; 95% CI 1.08-5.38). However, using a multiple regression model adjusted for the gestational age (GA), a significant reverse association was found between ROP and GA (ß= -0.322; p=0.003), but there was no statistically significant correlation between ROP and PDA (p=0.073 for rate of ROP and a p=0.20 for stage of ROP). CONCLUSIONS: The presence of PDA does not increase the risk of developing ROP or its severity, once considered the effect of gestational age in PDA.

[Tables estimating glomerular filtration rate from plasma creatinine]. / Tablas para la estimación del filtrado glomerular a partir de la creatinina plasmática.

Chronic kidney disease (CKD) and its related complications have become an important health and social problem. Very expensive resources are required in end-stage renal disease, and both complications of CKD as well as the important associated cardiovascular risk demand for interventions long before renal substitution therapies are needed. Thus, early diagnosis of CKD is currently considered of paramount importance, and it is based essentially upon the estimation of the glomerular filtration rate by formulae such as the abbreviated equation of the MDRD study. Nevertheless, in spite of international published recommendations, an automatic calculation to estimate the glomerular filtration rate (GFR) from serum creatinine is not reported by most laboratories yet and the need for creatinine assay standardisation is far from being implemented. Thus, we have designed some tables to show the creatinine value corresponding to different GFR for ages between 20 and 90 y/o, at 5 years intervals and in both sexes with both the MDRD-4 and MDRD-IDMS equations (Modification of Diet in Renal Disease-Isotope Dilution Mass Spectrometry). Moreover, we have created a global table including an estimation of GFR from plasma creatinine, age and sex by the MDRD-IDMS formula, the recommended for those laboratories which measure serum creatinine with assays aligned to the reference method. These tables aim to increase the awareness of the different assays for serum creatinine and to facilitate the diagnosis of CKD converting serum creatinine into GFR. This action should allow not only the early detection but also the possibility to establish the appropriate medical actions recommended after CKD detection.

[Neonatal Cornelia de Lange syndrome]. / Síndrome de Cornelia de Lange neonatal.

INTRODUCTION: Cornelia de Lange syndrome is a rare polimalformative association that shows an expresivity of unknown etiology being most cases sporadic. The diagnosis is clinical. CASE REPORTS: Two female newborns without remarkable antecedents affected of intrauterine growth retardation were born by cesarean section due to risk of perinatal asphyxia. Both cases had a harmonic hypotrophy and a very similar clinical phenotype, especially the craniofacial anomalies, with typical facial features and limb alterations. Besides, the evolution confirms the diagnosis because in both cases the delay of somatic development and microcephaly, as well as moderate-severe psychomotor delay and behavior alterations were present. Likewise, both cases have developed typical medical complications of the condition. The complementary study showed in both patients an important dysfunction of the auditory ways and a atrial septal defect. They were soon included in sensory and motor program of rehabilitation. CONCLUSION: We present two cases of Cornelia de Lange syndrome of neonatal diagnosis that we consider of interest due to the importance of an early recognition of the clinical condition for the family advice and the medical aid and for an appropriate development.

Eficacia de un protocolo terapéutico en pacientes con síndrome de ovario poliquístico: estudio prospectivo / Efficacy of a therapeutic protocol in pstients with polycystic ovary syndrome: a prospective study

Se propuso un protocolo consistente en educación continua, dieta, ejercicio y metformina a pacientes con diagnóstico de síndrome de ovario poliquístico. Se controlaron 55 mujeres en edad reproductiva, de abril de 2001 a mayo de 2004. Todas se controlaron al menos 3 veces, por un mínimo de 9 meses de seguimiento. Se realizaron exámenes de laboratorio y controles antropométricos. La edad promedio de las pacientes fue de 29 años. Hubo cambios significativos en las variables estudiadas y logramos demostrar que el protocolo propuesto es capaz de disminuir los riesgos metabólicos de esta enfermedad..