Celiac disease is strongly associated with HLA DQ, specifically with haplotypes. DRB1*03-DQA1*05:01/DQB1*02:01 (DQ2.5),DRB1*07-DQA1*02:01/DQB1*02:02 (DQ2.2), DRB1*11-DQA1*05:05/DQB1*03:01 (DQ7.5), and DRB1*04-DQA1*03:01/DQB1*03:02 (DQ8). The distribution of these risk haplotypes in patients with celiac disease is different in the geographical areas investigated. A high frequency of DRB1*07- DQA1*02:01/DQB1*02:02 (DQ2.2) and DRB1*11-DQA1*05:05/DQB1*03:01 (DQ7.5), has been described in Southern Europe. We analyzed 2102 confirmed CD cases with information on both DQB1* alelles and their distribution by geographical area in Spain. According to the presence of this haplotype in one or two chromosomes, the genotype is classified in: DQ2 homozygous, DQ2 heterozygous (cis or trans), DQ8 homozygous, DQ8/DQ2.5, DQ 2.2 homozygous and genotype known as "half DQ2". Two different patterns of risks related to CD were identified. In the Basque Country and Navarre, the Mediterranean Area (Aragon, Catalonia, Valencia, Balearic Islands, and Murcia), the South of Spain (Andalucía and Extremadura), and the Canary Islands, higher frequency of DQ2.5 trans, and more than 80% of DQ2.5/DQ2.2 homozygosis were described. The Cantabrian Coast (Cantabria, Asturias, and Galicia) and Central Areas (Castilla-León and Castilla-La Mancha) showed a higher percentage of DQ2.5/DQ2.5 homozygosis and a lower DQ2.5 in trans frequency, as in Northern Europe. Madrid has an intermediate model between the two described above. 17 cases (0.8%) did not carry any CD risk haplotypes.
Celiac Disease , HLA-DQ Antigens , Humans , Child , Spain/epidemiology , HLA-DQ Antigens/genetics , Celiac Disease/genetics , Genetic Predisposition to Disease , Alleles , Genotype , Haplotypes , HLA-DQ beta-Chains/genetics , HLA-DQ alpha-Chains/genetics
The worldwide prevalence of asymptomatic coeliac disease (CD) is increasing, which is in part due to the routine screening of children with risk factors. Both symptomatic and asymptomatic patients with CD are at risk of long-term complications. The objective of this study was to compare the clinical characteristics of asymptomatic and symptomatic children at the time of CD diagnosis. A case-control study was conducted using data from a cohort of 4838 CD patients recruited from 73 centers across Spain between 2011 and 2017. A total of 468 asymptomatic patients (cases) were selected and matched by age and sex with 468 symptomatic patients (controls). Clinical data, including any reported symptoms, as well as serologic, genetic, and histopathologic data were collected. No significant differences were found between the two groups in most clinical variables, nor in the degree of intestinal lesion. However, the asymptomatic patients were taller (height z-score -0.12 (1.06) vs. -0.45 (1.19), p < 0.001) and were less likely to have anti transglutaminase IgA antibodies ≥ 10 times the upper normal limit (66.2% vs. 758.4%, p = 0.002). Among the 37.1% of asymptomatic patients who were not screened for CD due to the absence of risk factors, only 34% were truly asymptomatic, while the remaining 66% reported non-specific CD-related symptoms. Therefore, expanding CD screening to any child who undergoes a blood test could reduce the burden of care for some children, as many of those considered asymptomatic reported non-specific CD-related symptoms.
Celiac Disease , Child , Humans , Celiac Disease/diagnosis , Case-Control Studies , Transglutaminases , Mass Screening , Immunoglobulin A , Autoantibodies
BACKGROUND: Anastomosis near the ileocecal valve (ICV) are controversial due to the increased pressure on the suture; in this situation, the valve could be removed at a first stage or at the moment of stoma closure. However, preservation of the ICV has proved important benefits in the long term. The aim of this study is to evaluate its feasibility in neonates with focal intestinal perforation (FIP). METHODS: Retrospective study (2010-2019) of neonates with FIP who underwent intestinal resection and primary anastomosis. Patients were divided into group A (anastomosis less than 5 cm from ICV) and group B (more than 5 cm). RESULTS: Forty patients were treated. Patients ostomized or with resection of ICV were excluded. Finally, 24 patients (birth weight 1043 ± 594 g (520-3000), age 8.8 ± 7.8 days (2-39)) were included for analysis. Patent ductus arteriosus was present in 75%. There were 6 patients in group A (25%) and 18 in group B (75%). Groups were comparable in terms of gestational age, birth weight, and age at the time of surgery (p > .05). There were no cases of dehiscence nor stenosis of the anastomosis. There were no differences in reoperation rate, infectious complications, time to enteral feeding, days of parenteral nutrition, hospital stay nor survival (p > .05). CONCLUSION: Ileo-ileal anastomosis closer to the ileocecal junction, in neonates with focal intestinal perforation, is an effective and safe option which also allows the preservation of the ICV avoiding the complications derived from its absence in a group of patients with high morbidity.
Ileocecal Valve , Intestinal Perforation , Infant, Newborn , Humans , Intestinal Perforation/etiology , Intestinal Perforation/surgery , Retrospective Studies , Birth Weight , Ileocecal Valve/surgery , Anastomosis, Surgical/adverse effects
BACKGROUND: Cystic fibrosis (CF) patients have an alteration in fatty acid (FA) metabolism, associated with increased omega-6 and low omega-3 FA. Previous studies on supplementation with omega-3 FA in CF had contradictory results, and to date there is no evidence to recommend routine use of omega-3 supplements in CF patients. We hypothesized that long-term supplementation with docosahexaenoic acid (DHA) will have beneficial effects in these patients, by reducing pulmonary, systemic and intestinal inflammation. METHODS: This was a randomized, double-blind, parallel, placebo-controlled trial. CF patients (age >2 months) were randomized to receive a seaweed DHA oil solution (50 mg/Kg/day) or matching placebo for 48 weeks. Primary outcomes were pulmonary (interleukin [IL]-8), systemic (IL-8) and intestinal (calprotectin) inflammatory biomarkers. Secondary outcomes included other pulmonary (IL-1ß, IL-6, neutrophil elastase, lactate and calprotectin) and systemic (serum-IL-1ß, IL-6) inflammatory biomarkers, as well as clinical outcomes (FEV1, pulmonary exacerbations, antibiotic use, nutritional status and quality of life). RESULTS: Ninety six CF patients, 44 female, age 14.6±11.9 years (48 DHA and 48 placebo) were included. At trial completion, there were no differences in all primary outcomes [serum-IL-8 (p=0.909), respiratory-IL-8 (p=0.384) or fecal calprotectin (p=0.948)], all secondary inflammatory biomarkers, or in any of the clinical outcomes evaluated. There were few adverse events, with similar incidence in both study groups. CONCLUSION: In this study, long-term DHA supplementation in CF patients was safe, but did not offer any benefit on inflammatory biomarkers, or in clinical outcomes compared with placebo. (NCT01783613).
Cystic Fibrosis , Cytokines/blood , Docosahexaenoic Acids/administration & dosage , Lactic Acid/blood , Leukocyte Elastase/blood , Leukocyte L1 Antigen Complex/metabolism , Adolescent , Adult , Biomarkers/metabolism , Child , Child, Preschool , Cystic Fibrosis/drug therapy , Cystic Fibrosis/metabolism , Double-Blind Method , Female , Humans , Infant , Male , Time Factors
INTRODUCTION: In neonatal units, Salmonella infections have been attributed to food-borne sources and person to person transmission. METHODS: The outbreak described is the first reported by Salmonella enterica serotype Newport in a neonatal facility in Spain. RESULTS: The index case was an 8-day premature newborn that developed clinical sepsis with positive blood cultures. The outbreak source was the mother of the index case. CONCLUSIONS: It is essential to improve infection control measures taking into account the parents, as they can be an important source of infection
INTRODUCCIÓN: En unidades de neonatología, las infecciones por Salmonella han sido atribuidas a fuentes alimentarias y a transmisión de persona a persona. MÉTODOS: El brote descrito es el primero ocasionado por Salmonella enterica serotipo Newport en una unidad neonatal en España. RESULTADOS: El caso índice era un recién nacido prematuro que desarrolló sepsis clínica con hemocultivos positivos. La fuente del brote fue la madre del caso índice. CONCLUSIONES: Al implementar medidas de control de la infección nosocomial se debe tener en cuenta a los padres ya que pueden constituir una fuente importante de infección
Humans , Infant, Newborn , Salmonella/pathogenicity , Salmonella Food Poisoning/complications , Salmonella Infections/transmission , Intestinal Diseases/microbiology , Infectious Disease Transmission, Vertical , Disease Outbreaks/prevention & control , Communicable Disease Control/organization & administration , Carrier State/epidemiology , Intensive Care Units, Neonatal/organization & administration
INTRODUCTION: In neonatal units, Salmonella infections have been attributed to food-borne sources and person to person transmission. METHODS: The outbreak described is the first reported by Salmonella enterica serotype Newport in a neonatal facility in Spain. RESULTS: The index case was an 8-day premature newborn that developed clinical sepsis with positive blood cultures. The outbreak source was the mother of the index case. CONCLUSIONS: It is essential to improve infection control measures taking into account the parents, as they can be an important source of infection.
Carrier State/microbiology , Cross Infection/transmission , Infant, Premature, Diseases/microbiology , Mothers , Salmonella Infections/transmission , Salmonella enterica/isolation & purification , Adult , Crohn Disease/microbiology , Cross Infection/microbiology , Disease Outbreaks , Female , Hand Hygiene , Humans , Infant, Newborn , Infant, Premature , Infection Control , Infectious Disease Transmission, Patient-to-Professional , Male , Milk, Human/microbiology , Nurseries, Hospital , Nursing Staff, Hospital , Patients' Rooms , Salmonella Infections/microbiology , Sepsis/etiology
We report citrin deficiency in a neonatal non-East-Asian patient, the ninth Caucasian reported with this disease. The association of intrahepatic cholestasis, galactosuria, very high alpha-fetoprotein and increased plasma and urine citrulline, tyrosine, methionine and threonine levels suggested citrin deficiency. Identification of a protein-truncating mutation (c.1078C>T; p.Arg360*) in the SLC25A13 gene confirmed the diagnosis. An immediate response to a high-protein, lactose-free, low-carbohydrate formula was observed. Our report illustrates the need for awareness on citrin deficiency in Western countries.
Calcium-Binding Proteins/deficiency , Calcium-Binding Proteins/genetics , Diet Therapy , Mitochondrial Membrane Transport Proteins/genetics , Organic Anion Transporters/deficiency , Organic Anion Transporters/genetics , Asian People/genetics , Calcium-Binding Proteins/blood , Calcium-Binding Proteins/urine , Citrulline/blood , Citrulline/urine , Humans , Methionine/blood , Methionine/urine , Mutation , Organic Anion Transporters/blood , Organic Anion Transporters/urine , Romania , Spain , Threonine/blood , Threonine/urine , Tyrosine/blood , Tyrosine/urine , White People/genetics
Fundamentos. La encefalopatía hipóxico-isquémica (EHI) perinatal en el recién nacido a término o casi a término es una importante causa de morbimortalidad en el periodo neonatal y de discapacidad ulterior en el niño 1-3. Las implicaciones médicas, sociales y legales que asocia la EHI son importantes y condicionan que ésta constituya un problema de salud pública. Durante todo el siglo XX no se ha dispuesto de ninguna aproximación terapéutica específica para prevenir o aminorar el daño cerebral asociado a esta agresión perinatal. Afortunadamente este panorama ha cambiado, ya que en los últimos años ha tenido lugar un importante avance terapéutico específico para la agresión hipóxico-isquémica del SNC: la hipotermia moderada sostenida. Diversos ensayos clínicos han mostrado que la reducción de la temperatura cerebral en 3-4ºC mediante un enfriamiento corporal total o selectivo del cabeza, iniciado antes de las 6 horas de vida y mantenido durante 72 horas, constituye una intervención eficaz para reducir la mortalidad y la discapacidad mayor en los supervivientes 7-9. Resultado. Este documento presenta las demostraciones que han conducido a que la EHI haya dejado de ser una condición huérfana de intervención terapéutica y examina brevemente los nuevos retos asistenciales que plantea(AU)
Background. Perinatal hypoxic-ischemic encephalopathy (HIE) in the term or near term newborn infant represents a major cause of morbidity and mortality during the neonatal period and subsequent disability in childhood. Medical, social, and legal implications of HIE are important and make this disease a public health problem. During the 20th century, measures aimed at preventing or ameliorating the brain damage associated with this perinatal aggression have been lacking. Fortunately, this situation seems to have changed in recent years with the use of moderate sustained hypothermia. Several clinical trials have shown that a reduction of cerebral temperature by 3-4oC via total body cooling or selective head cooling, initiated within the first 6 hours of life and maintained during 73 hours, is an effective intervention to decrease mortality and major disability among survivors. Result. In this manuscript we review the data that shows how HIE is no longer a disease with no therapeutic options, and we analyze the challenges that this new approach will pose on our healthcare system(AU)
Humans , Male , Female , Infant, Newborn , Hypothermia, Induced/methods , Hypothermia, Induced , Cryotherapy/methods , Hypoxia, Brain/complications , Hypoxia, Brain/diagnosis , Brain Ischemia/complications , Asphyxia Neonatorum/complications , Asphyxia Neonatorum/diagnosis , Brain Diseases/complications , Brain Diseases/diagnosis , Hypothermia, Induced/trends , Asphyxia Neonatorum/physiopathology , Brain Diseases/physiopathology
OBJECTIVE: Selective granulocyte-monocyte adsorption (GMA) apheresis is a safe technique that has shown efficacy in inflammatory bowel disease (IBD), especially in adult steroid-dependent and steroid-refractory ulcerative colitis. GMA apheresis is performed with Adacolumn, a direct blood perfusion system that selectively adsorbs circulating granulocytes and monocytes. Studies on efficacy of GMA apheresis in paediatric IBD are scarce. Our aim was to evaluate efficacy, safety, and tolerability of GMA apheresis in paediatric IBD patients followed for 1 year. PATIENTS AND METHODS: Nine patients with a mild to moderate flare-up (6 boys, 3 girls; 5 ulcerative colitis [UC], 4 Crohn disease [CD]) were included. Mean age at inclusion was 13 years and 9 months, and mean disease duration before inclusion was 28 months. All of our patients with UC were steroid-dependent; patients with CD had been unsuccessfully treated with other therapies. GMA apheresis consisted of 5 consecutive weekly sessions lasting 60 minutes each. RESULTS: After the 5 sessions, 4 of 5 patients with UC and 1 of 4 patients with CD achieved remission. This remission was maintained in 2 of 4 patients with UC and in the single patients with CD. Patients taking steroids could begin to taper their daily doses after the second apheresis, and 3 of 5 of these patients reached the end of the study steroid-free. GMA apheresis was well tolerated and no severe side effects related to the technique were observed. CONCLUSIONS: GMA apheresis is a safe, well-tolerated technique in paediatric IBD. As previously reported, we have observed a better efficacy in promoting and maintaining remission, and reducing conventional drugs in patients with UC than in patients with CD.
Colitis, Ulcerative/therapy , Crohn Disease/therapy , Leukapheresis/methods , Adolescent , Adsorption , Anti-Inflammatory Agents/pharmacology , Child , Colitis, Ulcerative/pathology , Crohn Disease/pathology , Drug Resistance , Female , Granulocytes , Humans , Immunosuppressive Agents/pharmacology , Male , Monocytes , Pilot Projects , Prospective Studies , Remission Induction , Safety , Severity of Illness Index , Treatment Outcome
Children born prematurely have a high incidence of visual disorders which cannot always be explained by focal retinal or brain lesions. The aim of this study was to test the hypothesis that visual function in preterm infants is related to the microstructural development of white matter in the optic radiations. We used diffusion tensor imaging (DTI) with probabilistic diffusion tractography to delineate the optic radiations at term equivalent age and compared the fractional anisotropy (FA) to a contemporaneous evaluation of visual function. Thirty-seven preterm infants (19 male) born at median (range) 28(+4) (24(+1)-32(+3)) weeks gestational age, were examined at a post-menstrual age of 42 (39(+6)-43) weeks. MRI and DTI were acquired on a 3 Tesla MR system with DTI obtained in 15 non-collinear directions with a b value of 750 s/mm(2). Tracts were generated from a seed mask placed in the white matter lateral to the lateral geniculate nucleus and mean FA values of these tracts were determined. Visual assessment was performed using a battery of nine items assessing different aspects of visual abilities. Ten infants had evidence of cerebral lesions on conventional MRI. Multiple regression analysis demonstrated that the visual assessment score was independently correlated with FA values, but not gestational age at birth, post-menstrual age at scan or the presence of lesions on conventional MRI. The occurrence of mild retinopathy of prematurity did not affect the FA measures or visual scores. We then performed a secondary analysis using tract-based spatial statistics to determine whether global brain white matter development was related to visual function and found that only FA in the optic radiations was correlated with visual assessment score. Our results suggest that in preterm infants at term equivalent age visual function is directly related to the development of white matter in the optic radiations.
Infant, Premature/physiology , Vision, Ocular/physiology , Visual Pathways/anatomy & histology , Visual Perception/physiology , Anisotropy , Brain/anatomy & histology , Brain/growth & development , Brain Mapping/methods , Cerebral Ventricles/pathology , Diffusion Magnetic Resonance Imaging/methods , Dilatation, Pathologic/pathology , Dilatation, Pathologic/physiopathology , Dilatation, Pathologic/psychology , Eye Movements/physiology , Female , Gestational Age , Humans , Infant, Newborn , Infant, Premature/psychology , Infant, Premature, Diseases/pathology , Infant, Premature, Diseases/physiopathology , Infant, Premature, Diseases/psychology , Male , Visual Pathways/growth & development , Visual Pathways/physiology
The prognosis of giant cervical teratomas is determined by the severity of the associated airway obstruction. Ex-utero intrapartum treatment (EXIT) is a technique to establish a patent airway before completion of birth, while the infant remains on placental support. We present two cases of newborns with cervical teratomas treated with the EXIT procedure. In the first, this technique allowed a tracheotomy to be performed, and in the second, correction of tracheal displacement and subsequent nasotracheal intubation was achieved.
Airway Obstruction/therapy , Fetal Therapies , Head and Neck Neoplasms/surgery , Hysterotomy , Teratoma/surgery , Airway Obstruction/diagnosis , Airway Obstruction/etiology , Cesarean Section , Head and Neck Neoplasms/complications , Head and Neck Neoplasms/diagnosis , Humans , Infant, Newborn , Intubation, Intratracheal , Male , Prenatal Diagnosis , Teratoma/complications , Teratoma/diagnosis , Tracheostomy , Treatment Outcome
