Clinical guideline on bone conduction implants.

Introduction And Goals: During the last decade there have been multiple and relevant advances in conduction and mixed hearing loss treatment. These advances and the appearance of new devices have extended the indications for bone-conduction implants. The Scientific Committee of Audiology of the Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello SEORL-CCC (Spanish Society of Otolaryngology and Head and Neck Surgery), together with the Otology and Otoneurology Committees, have undertaken a review of the current state of bone-conduction devices with updated information, to provide a clinical guideline on bone-conduction implants for otorhinolaryngology specialists, health professionals, health authorities and society in general.

The Castilian Spanish version of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR).

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Castilian Spanish language. The reading comprehension of the questionnaire was tested in 10 JIA parents and patients.

Active middle ear implants.

Active middle ear implants are surgically implanted prosthesis, which intend to stimulate the ossicular chain or the inner ear fluids through the oval or round windows. These implants may be useful for the treatment of certain patients with sensorineural hearing loss as well as for conductive or mixed hearing loss. This clinical guide attempts to summarize the current knowledge concerning the basic characteristics and indications of the most commonly used middle ear implants, including Vibrant Soundbrige (Med-el, Innsbruck), Carina (Cochlear, Australia), and Codacs.

Dabrafenib plus trametinib for compassionate use in metastatic melanoma: A STROBE-compliant retrospective observational postauthorization study.

The main objective of the study was to evaluate the efficacy and safety of dabrafenib alone or combined with trametinib for compassionate use in patients with metastatic melanoma.This retrospective, observational study involved 135 patients with unresectable stage IIIC or stage IV melanoma from an expanded-access program at 30 Spanish centers.Forty-eight patients received dabrafenib monotherapy and 87 received combination dabrafenib and trametinib; 4.

Evolution of Energy Related Metabolites in Plasma from Newborns with Hypoxic-Ischemic Encephalopathy during Hypothermia Treatment.

Therapeutic hypothermia (TH) initiated within 6 h from birth is the most effective therapeutic approach for moderate to severe hypoxic-ischemic encephalopathy (HIE). However, underlying mechanisms and effects on the human metabolism are not yet fully understood. This work aims at studying the evolution of several energy related key metabolites in newborns with HIE undergoing TH employing gas chromatography - mass spectrometry.

[Cannabidiol: its use in refractory epilepsies].

Introduction: Some epileptic syndromes are characterised by seizures that are difficult to control and are associated to delayed neuropsychomotor development, which results in a deterioration in the patient's quality of life as well as in that of his or her family.

Aim: To evaluate the use of cannabidiol as adjuvant therapy in patients with refractory epilepsies.

Patients And Methods: An observational study was conducted by means of a survey addressed to the patient's caregiver.

The impact of intrauterine and extrauterine weight gain in premature infants on later body composition.

BackgroundThe impact of intrauterine and extrauterine growth on later insulin resistance and fat mass (FM) in very low birth weight (VLBW) infants is not well established. The aim of our study was to evaluate the effects of intrauterine and early/late extrauterine growth on later insulin resistance and body composition in VLBW infants from 6 months' corrected age (CA) to 36 months.MethodsProspective measurements of body composition by dual-energy X-ray absorptiometry and insulin resistance by homeostasis model assessment insulin resistance (HOMA-IR) along with other fasting plasma biochemistries were made in 95 VLBW infants at 6, 12, 18, and 24 months' CA and 36 months' postnatal age.

Utility and Actual Use of European and Spanish Guidelines on the Management of Endometrial Cancer Among Gynecologic Oncologists in Spain.

Objective: The aim of the study was to analyze the current management of endometrial cancer across Spain and to evaluate the use and applicability of the national and international guidelines.

Materials And Methods: An electronic 30-question survey was distributed among all Spanish Society of Obstetrics and Gynecology-registered specialists dedicated to gynecologic oncology in Spain by e-mail. Data were collected anonymously and analyzed using SPSS program.

Efficacy and safety of urinary catheters with silver alloy coating in patients with spinal cord injury: a multicentric pragmatic randomized controlled trial. The ESCALE trial.

Background: Patients with spinal cord injury (SCI) who carry indwelling urinary catheters have an increased risk of urinary tract infection (UTI). Antiseptic silver alloy-coated (SAC) silicone urinary catheters prove to be a promising intervention to reduce UTIs; however, current evidence cannot be extrapolated to patients with SCI.

Purpose: This study aimed to assess the efficacy of SAC urinary catheters for preventing catheter-associated urinary tract infections.

[Possible treatments for infantile spinal atrophy].

The new treatments of spinal muscular atrophy (SMA) due by SMN1 gene deletions are reviewed. There are several ways to increase the protein SMN, its activity and persistence in the tissues. Neuroprotective drugs as olesoxime or riluzole, and drugs acting by epigenetic mechanisms, as histone deacetylase inhibitors, have shown positive effects in preclinical studies but no clear efficacy in clinical trials.

Predicting Full Enteral Feeding in the Postoperative Period in Infants with Congenital Diaphragmatic Hernia.

 The objective of the study is to examine the factors associated with time to achieve full enteral feeding after repair of congenital diaphragmatic hernia.  Demographic, clinical, and therapeutic data were retrospectively assessed, and uni- and multivariate Cox regression were performed to examine factors predictive of achieving full enteral feeding that was defined as time to achieve120 mL/kg/d after surgical repair.  Of 78 infants, 66 underwent intervention before hospital discharge.

sFlt-1/PlGF for prediction of early-onset pre-eclampsia: STEPS (Study of Early Pre-eclampsia in Spain).

Objective: A high ratio of soluble fms-like tyrosine kinase-1 (sFlt-1) to placental growth factor (PlGF) has been linked to pre-eclampsia (PE). We evaluated the sFlt-1/PlGF ratio as a predictive marker for early-onset PE in women at risk of PE.

Methods: This prospective, Spanish, multicenter study included pregnant women with a risk factor for PE, including intrauterine growth restriction, PE, eclampsia or hemolysis, elevated liver enzymes and low platelet count syndrome in previous pregnancy, pregestational diabetes or abnormal uterine artery Doppler.

Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections.

Antibody deficiencies can be caused by a variety of defects that interfere with B-cell development, maturation, and/or function. Using whole-exome sequencing we found a PIK3R1 mutation in a patient with hypogammaglobulinemia and a narrow clinical phenotype of respiratory infections. Early diagnosis is crucial; careful analysis of B and T-cells followed by genetic analyses may help to distinguish activated PI3K-delta syndrome (APDS) from other, less severe, predominantly antibody deficiencies.

[Clinical guidelines for infantile-onset Pompe disease].

Infantile-onset Pompe disease has a fatal prognosis in the short term unless it is diagnosed at an early stage and enzyme replacement therapy is not started as soon as possible. A group of specialists from different disciplines involved in this disease have reviewed the current scientific evidence and have drawn up an agreed series of recommendations on the diagnosis, treatment and follow-up of patients. We recommend establishing enzyme treatment in any patient with symptomatic Pompe disease with onset within the first year of life, with a clinical and enzymatic diagnosis, and once the CRIM (cross-reactive immunological material) status is known.

Cost-minimization analysis in the treatment of spasticity in children with cerebral palsy with botulinum toxin type A: an observational, longitudinal, retrospective study.

Objective: Cost-minimization analysis of onabotulinumtoxinA and abobotulinumtoxinA, taking into account the real dose administered to children with spasticity associated with dynamic equinus foot deformity due to cerebral palsy.

Method: A single centre, observational, longitudinal, and retrospective study which included spastic paediatric patients aged 2-to-18-years and treated with onabotulinumtoxinA or abobotulinumtoxinA from December 1995 to October 2012, in the Paediatric Neurology Unit of a first-level Spanish hospital. A longitudinal analysis of spasticity severity was made to confirm the similar efficacy of both treatments.

[Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data].

Introduction: Congenital Central Hypoventilation Syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care.

Aim: To determine the characteristics and outcomes of Spanish patients with CCHS, and detect clinical areas for improvement.

A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient.

Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive disease characterized by skeletal dysplasia, focal segmental glomerulosclerosis, renal failure and immunodeficiency. In this work, we report the molecular studies undertaken in a severely affected SIOD patient that died at six years old due to nephropathy. The patient was screened for mutations using a targeted skeletal dysplasias panel.

Mineral metabolism disorders, vertebral fractures and aortic calcifications in stable kidney transplant recipients: The role of gender (EMITRAL study).

Background And Objectives: The relationship between mineral metabolism disorders, bone fractures and vascular calcifications in kidney transplant recipients has not been established.

Method: We performed a cross-sectional study in 727 stable recipients from 28 Spanish transplant clinics. Mineral metabolism parameters, the semi-quantification of vertebral fractures and abdominal aortic calcifications were determined centrally.

Metabolic Syndrome in Children and Adolescents Living with HIV.

Background: Metabolic syndrome (MetS) is considered an independent risk factor for developing cardiovascular disease. It is well known that the prevalence of metabolic disorders have increased in pediatric HIV-infected children. The objective of this study is to assess the prevalence and characteristics of MetS in HIV-infected children and adolescents in Spain.

Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype.

MAMLD1 is thought to cause disordered sex development in 46,XY patients. But its role is controversial because some MAMLD1 variants are also detected in normal individuals, several MAMLD1 mutations have wild-type activity in functional tests, and the male Mamld1-knockout mouse has normal genitalia and reproduction. Our aim was to search for MAMLD1 variations in 108 46,XY patients with disordered sex development, and to test them functionally.