Heterozygous Mutation in Adenosine Deaminase Gene in a Patient With Severe Lymphopenia Following Corticosteroid Treatment of Autoimmune Hemolytic Anemia.

abstract：:Failure of statural growth is one of the major long-term sequelae of chronic kidney disease (CKD) in children. In recent years effective therapeutic strategies have become available that lead to evidence based practice recommendations. To assess the current growth performance of European children and adolescents with ...

journal_title：Frontiers in pediatrics

authors： Behnisch R,Kirchner M,Anarat A,Bacchetta J,Shroff R,Bilginer Y,Mir S,Caliskan S,Paripovic D,Harambat J,Mencarelli F,Büscher R,Arbeiter K,Soylemezoglu O,Zaloszyc A,Zurowska A,Melk A,Querfeld U,Schaefer F,and the 4C S

更新日期：2019-07-05 00:00:00

abstract：:Background: Precocious and early puberty are reported findings in children with pre-existing medical conditions including certain syndromes. Series pertaining to such situations are limited. Methods: A retrospective, single-center study was conducted on children with central precocious puberty (onset before the age of...

journal_title：Frontiers in pediatrics

authors： Winter S,Durand A,Brauner R

更新日期：2019-02-14 00:00:00

abstract：:Background: Amount of parenchymal involvement in patients with interstitial pneumonia Covid-19 related, seems to be associated with a worse prognosis. Nowadays 3D reconstruction imaging is expanding its role in clinical medical practice. We aimed to use 3D lung reconstruction of a young lady affected by Sars-CoV2 infe...

journal_title：Frontiers in pediatrics

authors： Borro L,Ciliberti P,Santangelo TP,Magistrelli A,Campana A,Carducci FC,Caterina M,Tomà P,Secinaro A

更新日期：2020-08-05 00:00:00

abstract：:The COVID-19 crisis has pressured hospital-based care for children with high-risk asthma as they have become deprived of regular clinical evaluations. However, COVID-19 also provided important lessons about implementing novel directions for care. Personalized eHealth technology, tailored to the individual and the heal...

journal_title：Frontiers in pediatrics

authors： van der Kamp MR,Tabak M,de Rooij SEJA,van Lierop PPE,Thio BJ

更新日期：2020-09-08 00:00:00

abstract：BACKGROUND:Pulmonary hypertension (PH) is frequently associated with an increase in sympathetic tone. This may adversely affect cardiac autonomic control. Knowledge about the clinical impact of autonomic dysfunction in patients with PH is limited. We aimed to assess whether parameters of heart rate variability (HRV) ar...

journal_title：Frontiers in pediatrics

authors： Latus H,Bandorski D,Rink F,Tiede H,Siaplaouras J,Ghofrani A,Seeger W,Schranz D,Apitz C

更新日期：2015-07-07 00:00:00

abstract：:Objectives: Mutations in the neuroblastoma-amplified sequence (NBAS) gene were originally described in patients with skeletal dysplasia or isolated liver disease of variable severity. Subsequent publications reported a more complex phenotype. Among multisystemic clinical symptoms, we were particularly interested in th...

journal_title：Frontiers in pediatrics

authors： Khoreva A,Pomerantseva E,Belova N,Povolotskaya I,Konovalov F,Kaimonov V,Gavrina A,Zimin S,Pershin D,Davydova N,Burlakov V,Viktorova E,Roppelt A,Kalinina E,Novichkova G,Shcherbina A

更新日期：2020-09-15 00:00:00

abstract：:Background: Pulmonary alveolar proteinosis (PAP) is a rare diffuse lung disease. Reports of rare cases of PAP due to Pneumocystis jirovecii (P. jirovecii) exist in infants with immunodeficiency diseases, but no cases have been reported to date in pediatric patients with type 1 hyper-IgM syndrome (HIGM1). Case Presenta...

journal_title：Frontiers in pediatrics

authors： Zhang FZ,Yuan JX,Qin L,Tang LF

更新日期：2020-06-11 00:00:00

abstract：:Hypotonia-Cystinuria syndrome (HCS) is a rare disease, caused by a mutation in two contiguous genes (SLC3A1 and PREPL) localized on chromosome 2p21, and it is characterized by both renal involvement with cystine stones and nervous involvement with hypotonia. We here describe a 2 years old child with HCS associated wit...

journal_title：Frontiers in pediatrics

authors： Taroni F,Capone V,Berrettini A,De Marco EA,Manzoni GA,Montini G

更新日期：2019-04-09 00:00:00

abstract：:Objective: To evaluate serial ferritin levels measured in the initial 72 h of admission as a biomarker for new and progressive multi organ dysfunction syndrome (NPMODS) and mortality (unfavorable outcomes) in critically ill children with sepsis due to tropical infections. Material and Methods: In this prospective obse...

journal_title：Frontiers in pediatrics

authors： Williams V,Menon N,Bhatia P,Biswal M,Sreedharanunni S,Rawat A,Jayashree M,Nallasamy K

更新日期：2020-12-03 00:00:00

abstract：:Introduction: Low-income and racial/ethnic minority preschoolers (aged 2-5 years) are disproportionately affected by obesity and its associated health consequences. Individual-level factors (e.g., diet) and environmental factors (e.g., neighborhood conditions) contribute to these disparities. However, there is limited...

journal_title：Frontiers in pediatrics

authors： Showell NN,Jennings JM,Johnson KA,Perin J,Thornton RLJ

更新日期：2019-01-22 00:00:00

abstract：:Background: The MTUS1 gene encodes a microtubule-associated protein involved in multiple processes including cell polarity and microtubule balance during myocardial development. Aims: To investigate the association between a de novo c. 2617A->C mutation in MTUS1 (NM_001001924.2) and non-compaction of ventricular myoca...

journal_title：Frontiers in pediatrics

authors： Bai X,Zhou Y,Ouyang N,Liu L,Huang X,Tian J,Lv T

更新日期：2019-07-02 00:00:00

abstract：:Pediatrics, among all the branches of medicine, is a sector not particularly affected by a high number of claims. Nevertheless, the economic value of the compensation is significantly high, for example, in cases of children who suffered multiple disabilities following perinatal lesions with a long life expectancy. In ...

journal_title：Frontiers in pediatrics

authors： Bertozzi G,Maglietta F,Baldari B,Besi L,Torsello A,Di Gioia CRT,Sessa F,Aromatario M,Cipolloni L

更新日期：2020-05-27 00:00:00

abstract：OBJECTIVES/HYPOTHESIS:Congenital aural atresia is a rare condition affecting 1 in 10,000-20,000 children a year. Surgery is required to restore hearing to facilitate normal development. The objective of this study was to compare outcomes in hearing, complications, and quality of life of surgical reconstruction of the e...

journal_title：Frontiers in pediatrics

authors： Farnoosh S,Mitsinikos FT,Maceri D,Don DM

更新日期：2014-01-22 00:00:00

abstract：:Introduction: Early-onset sepsis in neonates potentially results in substantial morbidity and mortality. A key player in sepsis a neutrophil extracellular traps (NETs) to limit dissemination of pathogens. Aim of this study was to evaluate markers of NET formation in umbilical cord blood as a predictor of neonatal seps...

journal_title：Frontiers in pediatrics

authors： Stiel CU,Ebenebe CU,Trochimiuk M,Pagarols Raluy L,Vincent D,Singer D,Reinshagen K,Boettcher M

更新日期：2020-01-14 00:00:00

abstract：:Background: The occurrence of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and the associated coronavirus disease 2019 (COVID-19) have profoundly affected adult kidney disease patients. In contrast, pediatric solid organ transplant recipients, including pediatric kidney transplant (KT) recipients, ...

journal_title：Frontiers in pediatrics

authors： Nailescu C,Khalid M,Wilson AC,Amanat F,Arregui S,Canas J,Hooks J,Krammer F,Schwaderer AL,Hains DS

更新日期：2020-10-30 00:00:00

abstract：:Severe Combined Immunodeficiencies (SCID) are a heterogeneous group of monogenetic diseases. We describe the typical clinical presentation of patients with SCID as well as basic principles in diagnosis and therapy by hematopoietic stem cell transplantation. Therapeutic strategies may differ between subtypes and the in...

journal_title：Frontiers in pediatrics

authors： Haddad E,Hoenig M

更新日期：2019-11-19 00:00:00

abstract：:Non-cystic fibrosis bronchiectasis (NCFB) has gained renewed interest, due to its increasing health-care burden. Annual mortality statistics in England and Wales showed that under 1,000 people die from bronchiectasis each year, and this number is increasing by 3% yearly. Unfortunately, there is a severe lack of well-p...

journal_title：Frontiers in pediatrics

authors： Nathan AM,de Bruyne JA,Eg KP,Thavagnanam S

更新日期：2017-04-24 00:00:00

abstract：:Dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive, combined immunodeficiency within the spectrum of hyper-IgE syndromes. Epstein-Barr virus-positive lymphomatoid granulomatosis (LYG) (EBV + LYG) is a rare diagnosis and a previously unreported presentation of DOCK8 deficiency. A 10-year-old girl w...

journal_title：Frontiers in pediatrics

authors： Dimitriades VR,Devlin V,Pittaluga S,Su HC,Holland SM,Wilson W,Dunleavy K,Shah NN,Freeman AF

更新日期：2017-02-28 00:00:00

abstract：:Objective: 11β-hydroxylase deficiency (11βOHD) is a rare autosomal recessive disorder caused by mutations in the CYP11B1 gene. It is characterized by virilization, hypertension, and significant final height impairment. In this study, we aim to investigate the clinical and molecular characteristics of four unrelated Ch...

journal_title：Frontiers in pediatrics

authors： Zhou Q,Wang D,Wang C,Zheng B,Liu Q,Zhu Z,Jia Z,Gu W

更新日期：2020-07-24 00:00:00

abstract：:Autoimmune Congenital Heart Block (CHB) is an immune-mediated disease due to transplacental passage of circulating anti-Ro/SSA and anti-La/SSB autoantibodies. It occurs in 2% of anti-Ro/SSA-exposed pregnancies, and recurrence rate is nine times higher in subsequent pregnancies. Aim of this review is to identify biomar...

journal_title：Frontiers in pediatrics

authors： De Carolis S,Garufi C,Garufi E,De Carolis MP,Botta A,Tabacco S,Salvi S

更新日期：2020-12-22 00:00:00

abstract：:Background: Febrile urinary tract infections (FUTIs) are common among children, and are associated with a bacteraemia between 4 and 7% of cases. No data is available concerning the management of children with a bacteraemic FUTI. Objectives: To compare the antibiotic treatment (parenteral and total duration) among chil...

journal_title：Frontiers in pediatrics

authors： Goeller C,Desmarest M,Garraffo A,Bonacorsi S,Gaschignard J

更新日期：2020-05-28 00:00:00

abstract：:Background: Although most preterm infants breathe at birth, their respiratory drive is weak and supplemental oxygen is often needed to overcome hypoxia. This could in turn lead to hyperoxia. To reduce the risk of hyperoxia, currently an initial low oxygen concentration (21-30%) is recommended during stabilization at b...

journal_title：Frontiers in pediatrics

authors： Dekker J,Hooper SB,Giera M,McGillick EV,Hutten GJ,Onland W,van Kaam AH,Te Pas AB

更新日期：2019-05-07 00:00:00

abstract：:Bronchial asthma is one of the most common chronic inflammatory diseases of the airways. In the pathogenesis of this disease, the interplay among the genes, intrinsic, and extrinsic factors are crucial. Various combinations of the involved factors determine and modify the final clinical phenotype/endotype of asthma. O...

journal_title：Frontiers in pediatrics

authors： Jesenak M,Zelieskova M,Babusikova E

更新日期：2017-07-24 00:00:00

abstract：:Asthma is the most frequent chronic disease in children, and its pathogenesis involves genetic, epigenetic, and environmental factors. The rapid rise in the prevalence of asthma registered over the last few decades has stressed the need to identify the environmental and modifiable factors associated with the developme...

journal_title：Frontiers in pediatrics

authors： Trambusti I,Nuzzi G,Costagliola G,Verduci E,D'Auria E,Peroni DG,Comberiati P

更新日期：2020-08-18 00:00:00

abstract：:Background: Clinical practice guidelines recommended that hypertension in children and adolescents should be defined based on elevated blood pressure (BP) on at least three separate occasions. Therefore, in the present study, we aimed to estimate the prevalence of hypertension based on three separate visits among Chin...

journal_title：Frontiers in pediatrics

authors： Zhang Q,Yang L,Zhang Y,Zhao M,Liang Y,Xi B

更新日期：2019-07-24 00:00:00

abstract：:Aim: The aim of this study was to evaluate the surgical outcome, in terms of gait improvement, of endoscopic transverse Vulpius gastrocsoleus recession in children with cerebral palsy compared to the traditional open surgery. Methods: Twenty-seven children with cerebral palsy who had undergone endoscopic transverse Vu...

journal_title：Frontiers in pediatrics

authors： Kim DW,Kim HW,Yoon JY,Rhee I,Oh MK,Park KB

更新日期：2020-03-24 00:00:00

abstract：:Objectives: In 2014 probiotic supplementation (Lactobacillus acidophilus and Bifidobacterium longum subspecies infantis; InfloranⓇ) was introduced as standard of care to prevent necrotizing enterocolitis (NEC) in extremely preterm infants in Norway. We aimed to evaluate the influence of probiotics and antibiotic thera...

journal_title：Frontiers in pediatrics

authors： Esaiassen E,Hjerde E,Cavanagh JP,Pedersen T,Andresen JH,Rettedal SI,Støen R,Nakstad B,Willassen NP,Klingenberg C

更新日期：2018-11-16 00:00:00

abstract：:Bronchiectasis is a complex chronic respiratory condition traditionally characterized by chronic infection, airway inflammation, and progressive decline in lung function. Early diagnosis and intensive treatment protocols can stabilize or even improve the clinical prognosis of children with bronchiectasis. However, und...

journal_title：Frontiers in pediatrics

authors： Pizzutto SJ,Hare KM,Upham JW

更新日期：2017-05-29 00:00:00

abstract：:This mini review provides an overview of the issues and challenges inherent in autosomal recessive polycystic kidney disease (ARPKD), with a particular focus on the neurological factors and neurocognitive functioning of this population. ARPKD typically is discovered at the end of pregnancy or during the neonatal devel...

journal_title：Frontiers in pediatrics

authors： Hooper SR

更新日期：2017-05-15 00:00:00

abstract：:Hypertension after kidney transplant is a frequent occurrence in pediatric patients. It is a risk factor for graft loss and contributes to the significant burden of cardiovascular disease (CVD) in this population. The etiology of posttransplant hypertension is multifactorial including donor factors, recipient factors,...

journal_title：Frontiers in pediatrics

authors： Charnaya O,Moudgil A

更新日期：2017-05-01 00:00:00