Effects on growth, weight and body composition after CFTR modulators in children with cystic fibrosis.

BACKGROUND: Cystic Fibrosis (CF) is associated with compromised nutrition status, which is responsible for morbidity and mortality along with lung function decline. This study was designed to examine changes in anthropometric markers and body composition parameters by bioelectrical impedance analysis after CFTR modulator (CFTRm) treatment. METHODS: We compared anthropometric parameters and body composition before and after 6 and 12 months of CFTRm treatment. Results are stratified into subgroups according to the modulator used with dual therapy with lumacaftor + ivacaftor or tezacaftor + ivacaftor (LUMA/TEZ + IVA) or triple therapy with elexacaftor + tezacaftor + ivacaftor (ELE + TEZ + IVA). Body composition data are available in patients treated with ELE + TEZ + IVA. RESULTS: Two hundred and thirty-four children (55.1% male) were recruited. The median age was 13.6 years (inter-quartile range [IQR] 10.7-16.1). We can observe a statistically significant increase in the weight Z score and BMI Z score after CFTRm. In terms of changes in body composition, we observe a significant increase in fat mass (FM) expressed both in kilograms and as a percentage at 6 months (p < .05; Wilcoxon-test), with no such differences found at 12 months. We also observe a statistically significant increase in fat-free-mass (FFM), expressed in kilograms at 6 and 12 months (p < .05; Wilcoxon-test). CONCLUSION: Weight status improved and changes in body composition occurred in children after CFTRm therapy, including an increase of fat mass. Further studies are needed to confirm these changes in body composition and their impact on disease progression.

Dysphagia in patients undergoing esophageal atresia surgery: Assessment using a functional scale. / Disfagia en pacientes intervenidos de atresia de esófago: valoración con una escala funcional.

INTRODUCTION: Dysphagia is defined as difficulty swallowing. Up to 84% of patients undergoing esophageal atresia surgery have dysphagia beyond the neonatal period. MATERIALS AND METHODS: A retrospective study of patients undergoing esophageal atresia surgery from 2005 to 2021 was carried out. The Functional Oral Intake Scale (FOIS) was used to assess dysphagia in 4 age groups (< 1 year old, 1-4 years old, 5-11 years old, and > 11 years old). FOIS scores < 7 or symptoms of choking, impaction, or food aversion were regarded as dysphagia. RESULTS: 63 patients were analyzed. 74% (47/63) had dysphagia during follow-up. Prevalence was 50% in patients < 1 year old (FOIS mean 4.32), 77% in patients aged 1-4 (FOIS mean 5.61), 45% in patients aged 5-11 (FOIS mean 5.87), and 38% in patients > 11 years old (FOIS mean 6.8). The most frequent causes of dysphagia were stenosis, which occurred in 38% of the patients (n=24), and gastroesophageal reflux (n=18), which was present in 28% of the patients. Both conditions were associated with significantly lower mean FOIS scores (p< 0.05) in the patients under 11 years of age. Differences (p< 0.05) were found in the dysphagia-associated perinatal factors in the various age groups, with longer ventilation assistance times, parenteral nutrition, and hospital stays. CONCLUSIONS: Dysphagia is an extremely frequent symptom at any given age in patients undergoing esophageal atresia surgery. A standardized, cross-disciplinary follow-up is key to improve quality of life.

INTRODUCCION: La disfagia se define como dificultad en el proceso de alimentación. Hasta un 84% de pacientes intervenidos de atresia de esófago tienen disfagia más allá del periodo neonatal. MATERIAL Y METODOS: Estudio retrospectivo de serie de casos intervenidos por atresia de esófago 2005-2021. Se utilizó la escala FOIS (Functional Oral Intake Scale) para cuantificar la disfagia en 4 grupos de edad (menores de 1 año, 1-4 años, 5-11 años y mayores de 11 años). Se consideró disfagia cualquier valor de FOIS < 7 o síntomas de atragantamiento, impactación o aversión alimentaria. RESULTADOS: Se obtuvieron datos de 63 pacientes. El 74% (47/63) presentó disfagia durante el seguimiento. La prevalencia fue del 50% < 1 año (media FOIS 4.32), 77% 1-4 años (media FOIS 5.61), 45% 5-11 años (media FOIS 5.87) y 38% > 11 años (media FOIS 6.8). Las causas más frecuentes de disfagia fueron la estenosis, que presentó un 38% de los pacientes (n= 24) y el reflujo gastroesofágico (n= 18), que presentó a su vez un 28% de los pacientes. Ambas condiciones se asociaron con unos valores medios de FOIS significativamente menores (p< 0,05) en los pacientes menores de 11 años. Se encontraron diferencias (p< 0,05) en factores perinatales asociados a disfagia en los distintos periodos de edad, a destacar mayor tiempo medio de: asistencia ventilatoria, nutrición parenteral e ingreso hospitalario. CONCLUSIONES: La disfagia es un síntoma extremadamente frecuente a cualquier edad en los pacientes intervenidos de atresia de esófago. Un seguimiento estandarizado y multidisciplinar es esencial para mejorar la calidad de vida de estos pacientes.

[Analysis of the quality of life in patients affected by scoliosis]. / Análisis de la calidad de vida en los pacientes afectos de escoliosis vertebral.

OBJECTIVES: To assess the quality of life using the SRS 22 test in patients with scoliosis of 20 or more degrees Cobb. MATERIAL AND METHODS: A prospective descriptive study was conducted between April and May 2016 on patients with scoliosis of at least 20 degrees Cobb and aged between 10 and 20 years. A record was made of weight, height, body mass index, and the SR 22 specific quality of life questionnaire for patients with scoliosis was completed. Patients were divided into two groups for analysis: a) scoliosis between 20 and 29 degrees Cobb (n=44); and b) scoliosis with a Cobb of 30 degrees or greater (n=32). RESULTS: There were significant differences in the dimensions that assess pain, image self-perception, and satisfaction with treatment, being valued worse when the degree of scoliosis Cobb is 30 degrees or higher. There were no significant differences in function/activity or mental health. The overall score of the questionnaire was also worse in the group with the highest degree of scoliosis. The weight, height, and BMI showed no significant differences due to the varying degrees of scoliosis. CONCLUSIONS: Scoliosis significantly affects the quality of life of people who suffer it, and there is a negative correlation between the severity of scoliosis measured by degrees Cobb and quality of life.

Analysis of the Spanish national registry for pediatric home enteral nutrition (NEPAD): implementation rates and observed trends during the past 8 years.

BACKGROUND/OBJECTIVES: The home enteral nutrition (HEN) provides nutritional support to children with chronic diseases who are nutritionally compromised and allows them to be discharged more quickly from hospitals. In 2003, a web-based registry (Nutrición Enteral Pediátrica Ambulatoria y Domiciliaria, Pediatric Ambulatory and Home Enteral Nutrition -NEPAD-) was created with the objective of gathering information about pediatric HEN practices in Spain. AIM: The aim of this study was to report the implementation of the NEPAD (Nutrición Enteral Pediátrica Ambulatoria y Domiciliaria, Pediatric Ambulatory and Home Enteral Nutrition) registry of pediatric HEN in Spain and to analyze data evolution trends from 2003 to 2010. SUBJECTS/METHODS: The data from the Spanish NEPAD registry were analyzed according to the following variables: demographic data, diagnosis, indication for HEN, nutritional support regime and administration route. RESULTS: Over the study period, 952 patients (1048 episodes) from 20 Spanish hospitals were included in the NEPAD registry. The most frequent indication for HEN was decreased oral intake (64%), and neurological disease was the most prevalent illness. HEN was delivered via a nasogastric tube in 573 episodes (54.7%), by gastrostomy in 375 episodes (35.8%), oral feeding in 77 episodes (7.3%) and by jejunal access in 23 episodes (2.2%). Significant differences in the mode of administration were observed based on the pathology of the child (χ(2), P<0.0001). The cyclic feeding was the most widely used technique for the administration of HEN. Most of the patients used a pump and a polymeric formula. Transition to oral feeding was the primary reason for discontinuation of this type of support. CONCLUSIONS: Since the NEPAD registry was established in Spain, the number of documented patients has increased more than 25-fold. Many children with chronic illness benefit from HEN, mainly those suffering from neurological diseases.

Assessment of plasma ammonia and glutamine concentrations in urea cycle disorders.

OBJECTIVES: To analyze the association between ammonia and glutamine used for metabolic control in inherited urea cycle disorders (UCD) in a large series of patients. DESIGN AND METHODS: Paired plasma amino acid-ammonia data from 26 UCD patients were analyzed (n=921). RESULTS: Increased plasma glutamine values were consistently observed in UCD patients, despite normal plasma ammonia concentrations, especially for mitochondrial UCD. CONCLUSIONS: Further therapeutic efforts are probably needed to control increased glutamine values, considering their potentially neurotoxic effect.

[Autoimmune hepatitis in pediatric patients]. / Hepatitis autoinmune en la edad pediátrica.

BACKGROUND: Autoimmune hepatitis (AIH) is an inflammatory disease of unknown origin that is responsible for progressive liver necrosis and ultimately cirrhosis. OBJECTIVE: Our aim was to evaluate the characteristics of autoimmune hepatitis presenting in the pediatric age. MATERIAL AND METHODS: We conducted a retrospective study of all patients diagnosed with AIH in our hospital department during the last 10 years. Variables analyzed included age, sex, clinical presentation, hepatic function, immunoglobulins, autoimmunity markers, histology, treatment, need for transplant, and clinical evolution. According to the positive level of auto-antibodies, AIH patients were classified as type I AIH (ANA and/or smooth-muscle antibodies) and type II (anti-LKM-1). RESULTS: Seven patients were diagnosed in this period -5 girls (71.5%) and 2 boys (28.5%). Five patients presented with type-I serological markers, and two with type-II markers. Age range at diagnosis was from 21 months to 12 years. In the type-I group, 3 patients presented with acute hepatitis while 2 other patients were diagnosed from laboratory findings while asymptomatic. Elevated aminotransferase (10 times the normal level) was observed in 71.5%, and 85% had elevated immunoglobulins. Treatment with azathioprine and prednisone was started after diagnosis with an average time to remission of 14 months. Two patients relapsed following steroid withdrawal. CONCLUSION: AIH can have different forms of clinical presentation, and is sometimes indistinguishable from viral hepatitis. AIH must be ruled out in patients presenting with concomitant elevation of aminotransferases and immunoglobulins. The commonly accepted treatment is a combination of azathioprine and corticosteroids. A high percentage of patients experience a relapse of disease after steroids are withdrawn. Therefore, some patients will need to stay on combined therapy with minimal doses of steroids.

[Benign paroxysmal vertigo. Our 14 years' experience with this entity]. / Vértigo paroxístico benigno. Nuestra experiencia de 14 años.

INTRODUCTION: Benign paroxysmal vertigo (BPV) is characterised by the sudden onset of brief recurring episodes of loss of balance, sometimes accompanied by vegetative symptoms, which tend to disappear spontaneously in a matter of months or years and have no intercritical alterations. PATIENTS AND METHODS: We analyse the clinical and developmental characteristics of the patients who were listed as possible cases of benign paroxysmal vertigo in the database of the Neuropaediatric Unit of the Hospital Miguel Servet in Zaragoza over a 14 year period. Clinical records were reviewed and cases no longer controlled were contacted by telephone. RESULTS: 18 patients were considered to be cases of BPV, with the typical criteria, and 13 were found to be possible BPV (p-BPV). The atypical data of the p-BPV included late age of onset, prolonged persistence of the episodes and long duration of each episode. Neuroimaging was performed in 8 (44%) of the BPV and 10 (77%) of the p-BPV, and electroencephalogram recordings were carried out in 15 (83%) of the BPV and 11 (85%) of the p-BPV, with normal results in all cases. CONCLUSIONS: Establishing a diagnosis of BPV with strict criteria can mean that some atypical cases are excluded. As no biological marker is available, the diagnosis is clinical-developmental and sometimes complementary tests need to be conducted in order to rule out other pathological conditions. A broader clinical spectrum, cases in which the episodes last longer and a greater range of ages of onset and complete remission are all possible. A diagnosis of BPV should reassure the patients' families as it is a benign process that tends to disappear spontaneously.

[Cleft palate and cleft lip. Clinical review]. / Fisura palatina y labio leporino. Revisión clínica.

UNLABELLED: The aim of this study is to do an analytical study of cleft palate and cleft lip in our hospital. PATIENTS AND METHODS: 85 clinical charts of patients attended in our hospital born between 1976 and 2001 in Aragon and Rioja were reviewed. We studied the incidence of oral cleft, associated malformations and morbidity, familial antecedents and perinatal data, phonatory disfunctions, serose otitis, growth failure and psychiatry problems. RESULTS: The mean incidence was 0.5/1000 newborns. 41.5% presented associated malformations and 19.3% were associated with a specific syndrome, being more frequent in patients affected of cleft palate and cleft lip (50%) than patients with only cleft palate (41.2%) or only cleft lip (8.8%). The most frequent malformations were: facial defects (50%), skeletal (33%), congenital cardiopathies (33%). 19% were born prematurely. The percentage of serose otitis that required control at hospital was 37.3%. 34.2% presented phonatory problems. There was a high incidence of growth failure and psychiatry problems. CONCLUSION: Oral clefts represent a complex clinical condition with a high percentage of medical complications that require a multidisciplinary treatment. The high incidence of congenital defects associated with this condition demand an exhaustive screening in the newborns affected.

Psychomotor and intellectual development of children born with intrauterine growth retardation (IUGR).

The possible impact of IUGR on the intellectual outcome of children born with IUGR gives special relevance to this condition. In order to determine the psychomotor and intellectual development of such children, we analyzed the evolution of 60 children through appropriate tests, along the years, and the possible influence of two factors, the socio-economic status of the family, and whether or not there was catch-up growth. Our results show a negative impact of IUGR on the intellectual outcome of these children, independent of catch-up growth, although those with catch-up growth showed better evolution. The socio-economic status plays a limited role only at older age. Those children followed longitudinally for 1 year did not show any amelioration of their IQ.

[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.

[111In-pentetreotide in the study of tumors expressing somatostatin receptors]. / 111In-pentetreótida en el estudio de tumores que expresan receptores para la somatostatina.

UNLABELLED: The usefulness of 111In-pentetreotide scintigraphy in the diagnosis of neuroendocrine tumors was evaluated. MATERIAL AND METHOD: 39 patients with clinical or biochemical suspicion of neuroendocrine tumors were studied. 29 patients underwent surgery and diagnosis was confirmed by anatomopathology findings (7 mixed tumors, 6 carcinoids, 3 insulinomas, 3 pheocromocytomas, 2 glucagonomas, 2 medullary thyroid carcinomas, 1 gastrinoma and 5 metastatic lesions). In 10 patients who did not undergo surgery, the diagnostic criteria were based on a 6 month follow-up. 111In-pentetreotide scintigraphy and computed tomography (CT) were performed in all of the patients. RESULTS: The scintigraphy correctly detected 58% of the primary tumors while the CT was positive in only 45% of the cases. Both techniques detected metastasis in 5 patients. CONCLUSION: 111In-pentetreotide scintigraphy is a useful technique to diagnose those tumors that have somatostatin receptors. In our series, the sensitivity of this method was higher than the CT.

[Immunogammagraphy with anti-CEA and anti-TAG-72 monoclonal antibodies in the diagnosis of colorectal carcinoma]. / Inmunogammagrafía con anticuerpos monoclonales anti-CEA y anti-TAG-72 en el diagnóstico del carcinoma colorrectal.

BACKGROUND: The purpose of nuclear medicine in the evaluation of colorectal carcinoma is to complete the current diagnostic protocol, by means of monoclonal antibodies (MoAb) against tumoral antigens labelled with radioactive isotopes and performing an immunoscintigraphy. PATIENTS AND METHODS: Immunoscintigraphies have been performed to 143 patients with colorectal carcinoma. Group I: antiCEA MoAb 99mTc-BW 431/26 (72 patients with 74 lesions, 48 primary tumors and 26 recurrences); group II: antiTAT-72 MoAb 111In-CYT-103 (71 patients with 75 lesions, 28 primary tumors and 47 recurrences). All positive images, not corresponding to physiological distribution of MoAb, have been considered as pathological. RESULTS: The sensitivity in the diagnosis of primary tumors in group I was worse than in group II (54.2% vs 66.7%). If rectum tumors were excluded, the sensitivity increased to 80% and 85.7%, respectively. In the suspicion of recurrences, if only lesions confirmed at surgery were considered, the sensitivity was 75% in group I and 89.7% in group II. The immunoscintigraphy has been the only technique able to diagnose recurrences in 4/23 cases from group I and 14/32 from group II. In liver, considering as metastases only hot images, the sensitivity is very low in group I (44.4%) and null in group II. No relationship has been found between tumour markers levels and the immunoscintigraphic result. CONCLUSIONS: Immunoscintigraphy is useful in patients with colorectal carcinoma, especially in the case of recurrences and it is a complementary technique to other diagnostic procedures.