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.

[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.

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).

[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.

[Interleukin-6 and tumor necrosis factor-alpha as markers of vertically-transmitted neonatal bacterial infection]. / Interleucina-6 y factor de necrosis tumoral-alpha como marcadores de infección neonatal de transmisión vertical.

INTRODUCTION: Neonatal infection is a major cause of morbidity in the neonatal period. Several parameters have been used to assess neonatal sepsis. C-reactive protein (CRP) shows high specificity for bacterial infections, but an increase in CRP is often not detected until 12 to 24 hours after onset of the infection. OBJECTIVE: To evaluate the usefulness of interleukin-6 (IL-6) and tumor necrosis factor-alpha (TNF-alpha) in the early diagnosis of vertically-transmitted neonatal bacterial infection. METHODS: Thirty-four newborns admitted to the neonatal intensive care unit with an initial diagnosis of respiratory distress were included. Twelve newborns presented the criteria for clinical sepsis or pneumonia (group I) and six had positive blood culture. The remaining patients did not present the clinical criteria for infection (group II). IL-6, TNF-alpha, CRP levels and the ratio between immature and mature neutrophil count were assessed at 8.8 +/- 7.3 hours of life. In 17 patients the same parameters were assessed at 67.4 +/- 24.8 hours of life. The statistical analysis was performed using the Mann-Whitney test. The sensitivity and specificity of these markers were assessed. RESULTS: No differences were found in the perinatal features of either group. Analysis of markers of infection revealed the following significant differences: ratio between immature and mature neutrophil count: (0.25 +/- 0.21 vs 0.12 +/- 0.09; p=0.048), CRP first determination (1.4 +/- 0.8 mg/dL vs 1 +/- 0.5 mg/dL; p=0.036), CRP second determination: (3.8 +/- 1.8 mg/dL vs 1.4 +/- 1.1 mg/dL; p=0.008), IL-6 first determination: (582.2 +/- 810.5 pg/mL vs 31.3 +/- 24.2 pg/mL; p=0.000). Sensitivity/specificity (%): ratio between immature and mature neutrophil count: 41.6/83.6; CRP first determination: 16.6/90.9; CRP second determination: 83.3/87.5; IL-6 (optimum cut-off value: 55 pg/mL): 100/72.7, and TNF-alpha: 16.6/85. CONCLUSIONS: IL-6 determination in the first hours of life is a more sensitive early marker of neonatal infection than other classical markers because of its early elevation. Like CRP, early TNF-alpha determination has high specificity but low sensitivity.

[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.

[Smith Lemli Opitz Syndrome type II of neonatal diagnosis and review of the most interesting clinical features]. / Síndrome de Smith-Lemli-Opitz tipo II de diagnóstico neonatal y revisión de sus conocimientos de mayor interés.

INTRODUCTION: Smith Lemli Opitz syndrome is an autosomal recessive metabolic disease, two forms can be differentiated: type I and type II. CASE REPORT: We present the clinical case of a female newborn with antecedents of oligoamnios and intrauterine growth retardation who presented a characteristic malformative syndrome, severe neurological impairment, anomalies of the limbs, pyloric stenosis, and renal and cardiac defects. Determination of cholesterol and its precursors by gas chromatography confirmed the clinical diagnosis of a severe form with exitus at six months of age. At the same time a review of the syndrome is presented.

[Severe fulminant form of neonatal citrullinemia. Report of a case]. / Forma grave fulminante de citrulinemia neonatal. Comunicación de un caso.

INTRODUCTION: Citrullinemia is an autosomal recessive disease, which is caused by a deficiency of the argininosuccinate synthetase. The neonatal forms are serious and many times are associated with a high level of mortality. CASE REPORT: A newborn that came in again on her third day of life due to a apneic episodes which required mechanical ventilation. Previously, she rejected feeding, had poor suction, lethargy and remarkable hypoactivity. During the following hours, she showed serious neurologycal deterioration with multifocal convulsions and coma, passing away 20 hours after admission due to endocraneal hypertension. The metabolic evaluation confirmed very significant hyperammonemia, with important increase of citrullin and glutamin, and arginine in the low limits of normality. She was treated with sodium benzoate and arginine and she also needed exanguinotransfusion. It was not possible to put her on hemodyalisis. The findings of the autopsy confirmed massive cerebral edema and characteristic hystological changes in the liver. The determination of the enzymatical activity in liver tissue showed a partial deficiency, with a residual activity of 25% of the average control. CONCLUSIONS: This is a case of fulminant neonatal citrullinemia that we considered of interest in order to draw the attention of the clinical on this type of diseases. The prognosis depends on early diagnosis, witch is based on clinical suspicion and analytical determination of ammonia in every newborn with unexplained vomiting, lethargy or other symptoms of encephalopathy.

[Long-term results of primary vesico-ureteral reflux from the distal ureter treated medically and surgically in children]. / Résultats à long terme des reflux vésico-urétéraux primitifs sur uretère fin traités médicalement et chirurgicalement chez l'enfant.

The authors study fifty five cases of reflux, involving ninety five reno-ureteral units, with a followup of then to eighteen years. The renal injuries were invariably secondary to an infection. The fate of pyelonephritic kidneys was dramatic--out of a total of fifteen, only five showed normal growth, and the other ten showed a standard deviation of at least - 4; surgery does not prevent an adverse evolution. The lesions may appear postoperatively during the period of medical treatment (4 out of 70 in this series). Non-infected refluxes are not harmful, because of the possibility of compensating hypertrophy. Unsuccessful surgery does not compromise the fate of the kidney, because of early reoperation. The main factor in the prognosis is effective treatment as soon as the symptoms appear.

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)

[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.

[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.

[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.

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)