A de novo Mutation in the MTUS1 Gene Decreases the Risk of Non-compaction of Ventricular Myocardium via the Rac1/Cdc42 Pathway.

abstract：:Anticoagulation is an imperfect science and is even more complicated in neonates and young children. The addition of the extracorporeal life support (ECLS) foreign circuit adds an additional layer of complexity. Anticoagulation goals during ECLS are to maintain a clot-free circuit and a hemostatically balanced patient...

journal_title：Frontiers in pediatrics

authors： Ryerson LM,Lequier LL

更新日期：2016-06-22 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：:The first successful total right heart bypass via atriopulmonary anastomosis (APA) were reported in 1971 for patients with tricuspid atresia. At the Children's Hospital of Buenos Aires, the cohort of such procedures started in July, when the first fenestrated right heart by pass was performed, with the interposition o...

journal_title：Frontiers in pediatrics

authors： Kreutzer C,Kreutzer J,Kreutzer GO

更新日期：2013-12-18 00:00:00

abstract：:Background: Optimal timing for resection of asymptomatic congenital lung malformations (CLMs) remains controversial. The aim of this study is to define optimal timing for surgical intervention of patients with CLMs and define clinical variables that affect surgical outcomes. Methods: An IRB-approved retrospective anal...

journal_title：Frontiers in pediatrics

authors： Duron V,Zenilman A,Griggs C,DeFazio J,Price JC,Fan W,Vivero M,Castrillon J,Schmaedick M,Iqbal E,Rothenberg S

更新日期：2020-02-14 00:00:00

abstract：:Severe accidental hypothermia has been demonstrated to affect ventricular systolic and diastolic functions, and rewarming might be responsible of cardiovascular collapse. Until now, there have been only a few reports on severe accidental hypothermia, none of which involved children. Herein, we describe here a rare cas...

journal_title：Frontiers in pediatrics

authors： Vicinanza A,De Laet C,Rooze S,Willems A,Beretta-Piccoli X,Vens D,Voglet C,Jacquemart C,Massin M,Biarent D

更新日期：2019-03-29 00:00:00

abstract：:Informed consent is a process ensuring that subjects enrolled in research are appropriately informed of the risks and benefits. While this process is well-defined when it is possible and practical to obtain consent prior to the research intervention, it can be less clear in cases of deferred or waived consent. Definin...

journal_title：Frontiers in pediatrics

authors： Rich WD,Katheria AC

更新日期：2019-11-26 00:00:00

abstract：:Urolithiasis can affect all children even preschool ones. Diagnostic difficulties in the youngest children are due to the problems in locating pain and determining its character and severity. In keeping with the ALARA (As Low As Reasonably Achievable) protocol, the number of imaging tests possible to perform is very l...

journal_title：Frontiers in pediatrics

authors： Halinski A,Halinski A,Zaniew M,Kudliński B,Soltysiak J,Sobolewski B,Steyaert H

更新日期：2019-09-06 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：:Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. A set of intronic deletions of CNTNAP2 gene has also...

journal_title：Frontiers in pediatrics

authors： Falsaperla R,Pappalardo XG,Romano C,Marino SD,Corsello G,Ruggieri M,Parano E,Pavone P

更新日期：2020-09-11 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:Acute respiratory illnesses with cough (ARIwC) are predominant causes of morbidity in Australian Indigenous children; however, data on disease burden in urban communities are scarce. This study aimed to determine the incidence of ARIwC, the predictors of recurrent (≥4 episodes) ARIwC, and development of chro...

journal_title：Frontiers in pediatrics

authors： Hall KK,Chang AB,Anderson J,Arnold D,Goyal V,Dunbar M,Otim M,O'Grady KF

更新日期：2017-10-31 00:00:00

abstract：:During early post-natal life, neonates must adjust to the transition from the sheltered intra-uterine environment to the microbe-laden external world, wherein they encounter a constellation of antigens and the colonization by the microbiome. At this vulnerable stage, neonatal immune responses are considered immature a...

journal_title：Frontiers in pediatrics

authors： Tsafaras GP,Ntontsi P,Xanthou G

更新日期：2020-01-28 00:00:00

abstract：:The use of prolonged respiratory support under the form of high-flow nasal cannula (HFNC) or nasal continuous positive airway pressure (nCPAP) is frequent in newborn infants. Introduction of oral feeding under such nasal respiratory support is, however, highly controversial among neonatologists, due to the fear that i...

journal_title：Frontiers in pediatrics

authors： Samson N,Nadeau C,Vincent L,Cantin D,Praud JP

更新日期：2018-01-17 00:00:00

abstract：:Introduction: Allostatic load (AL) refers to the physiological response associated with the burden of chronic stress. Excessive weight is an important source of physiological stress that promotes a detrimental chronic low-inflammation state. In order to define a correlation between cumulative biological dysregulation ...

journal_title：Frontiers in pediatrics

authors： Calcaterra V,Vinci F,Casari G,Pelizzo G,de Silvestri A,De Amici M,Albertini R,Regalbuto C,Montalbano C,Larizza D,Cena H

更新日期：2019-08-07 00:00:00

abstract：:Ceftolozane-tazobactam is a novel fifth-generation cephalosporin/β-lactamase inhibitor combination recently approved for treatment of both complicated intra-abdominal and urinary tract infections in adults. Considering its potent bactericidal activity against Pseudomonas aeruginosa, it might represent an important opt...

journal_title：Frontiers in pediatrics

authors： Garazzino S,Altieri E,Silvestro E,Pruccoli G,Scolfaro C,Bignamini E

更新日期：2020-05-05 00:00:00

abstract：:Introduction: The interest in laparoscopy in the treatment of ureteropelvic junction obstruction (UPJO) in children under 12 months of age remains controversial. The aim of this study is to evaluate feasibility and benefits of retroperitoneal laparoscopy (RL) compared to open surgery in this age group. Materials and M...

journal_title：Frontiers in pediatrics

authors： Kallas-Chemaly A,Peycelon M,Ali L,Grapin-Dagorno C,Carricaburu E,Philippe-Chomette P,Enezian G,Paye-Jaouen A,El-Ghoneimi A

更新日期：2019-05-24 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: Eculizumab has dramatically changed poor outcomes of complement-mediated atypical hemolytic uremic syndrome (aHUS) as first-line treatment. Discontinuation of eculizumab remains challenging, and doctor's visits every 2 weeks for intravenous injection because of standard dosing protocols is a huge burden. T...

journal_title：Frontiers in pediatrics

authors： Saida K,Fukuda T,Mizuno K,Ogura M,Kamei K,Ito S

更新日期：2019-12-17 00:00:00

abstract：:Cerebral palsy (CP) is the most common cause of disability in childhood. Respiratory illness is the most common cause of mortality, morbidity, and poor quality of life in the most severely affected children. Respiratory illness is caused by multiple and combined factors. This review describes these factors and discuss...

journal_title：Frontiers in pediatrics

authors： Marpole R,Blackmore AM,Gibson N,Cooper MS,Langdon K,Wilson AC

更新日期：2020-06-24 00:00:00

abstract：:Neonatal encephalopathy (NE) is associated with high mortality and morbidity. Factors predisposing to NE can be antenatal, perinatal, or a combination of both. Antenatal maternal factors, familial factors, genetic predisposition, hypoxic ischemic encephalopathy, infections, placental abnormalities, thrombophilia, coag...

journal_title：Frontiers in pediatrics

authors： Aslam S,Strickland T,Molloy EJ

更新日期：2019-04-16 00:00:00

abstract：:The concept of orthostatic hypertension in children was first proposed in 2012. The pathogenesis is not clear by now. Orthostatic hypertension is one of the important causes of orthostatic intolerance in children and is related to the development of essential hypertension in the future. It is commonly seen in older ch...

journal_title：Frontiers in pediatrics

authors： Hu Y,Jin H,Du J

更新日期：2020-07-29 00:00:00

abstract：:Background: Despite the pandemic, data are limited regarding COVID-19 infection in pregnant women and newborns. This report aimed to bring new information about presentation that could modify precautionary measures for infants born of mothers with a remote history of COVID-19. Methods: We report two infants with possi...

journal_title：Frontiers in pediatrics

authors： Hascoët JM,Jellimann JM,Hartard C,Wittwer A,Jeulin H,Franck P,Morel O

更新日期：2020-09-29 00:00:00

abstract：:Introduction: Hospital response to the COVID-19 outbreak has involved the cancellation of elective, deferrable surgeries throughout Europe in order to ensure capacity for emergent surgery and a selection of elective but non-deferrable surgeries. The purpose of this document is to propose technical strategies to assist...

journal_title：Frontiers in pediatrics

authors： Pini Prato A,Conforti A,Almstrom M,Van Gemert W,Scuderi MG,Khen-Dunlop N,Draghici I,Mendoza-Sagaon M,Giné Prades C,Chiarenza F,Steyaert H

更新日期：2020-05-07 00:00:00

abstract：:While awareness and understanding of concussion have improved drastically, post-concussion management in academic settings is still at its infancy. The aim of the study was to examine to what extent concussion influences academic performance and to whether there would be a difference in concussion effects on academic ...

journal_title：Frontiers in pediatrics

authors： Holmes A,Chen Z,Yahng L,Fletcher D,Kawata K

更新日期：2020-03-04 00:00:00

abstract：:Aim: The aim of this study was to present primary outcomes of autologous bone marrow mononuclear cell (BMMNC) transplantation to improve neurological sequelae in four children with intracranial hemorrhage (ICH) incidence during the neonatal period. Methods: GMFM88 and modified Ashworth score were used to assess motor ...

journal_title：Frontiers in pediatrics

authors： Liem NT,Huyen TL,Huong LT,Doan NV,Anh BV,Anh NTP,Tung DT

更新日期：2020-01-24 00:00:00

abstract：:Background: Ornithine transcarbamylase deficiency (OTCD) is an X- linked recessive disorder and the most common error of the urea cycle, caused by the mutations in the OTC gene. Due to X-inactivation, 15-20% of female carriers present symptoms of OTCD at late onset. Early diagnosis of OTCD by molecular analysis in fem...

journal_title：Frontiers in pediatrics

authors： Nguyen HH,Khanh Nguyen N,Dung Vu C,Thu Huong Nguyen T,Nguyen NL

更新日期：2020-07-23 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：:Background: Timely diagnosis of child physical abuse is of paramount importance. The added value of bone scintigraphy (BS) after a negative radiological skeletal survey (RSS) in children with suspected physical abuse has never been evaluated. Objective: The objective of this study was to assess the extent to which BS ...

journal_title：Frontiers in pediatrics

authors： Blangis F,Poullaouec C,Launay E,Vabres N,Sadones F,Eugène T,Cohen JF,Chalumeau M,Gras-Le Guen C

更新日期：2020-09-25 00:00:00

abstract：:Chronic active Epstein-Barr virus (EBV) infection (CAEBV) is an EBV-associated lymphoproliferative disease characterized by repeated or sustainable infectious mononucleosis (IM)-like symptoms. EBV is usually detected in B cells in patients who have IM or Burkitt's lymphoma and even in patients with X-linked lymphoprol...

journal_title：Frontiers in pediatrics

authors： Tanita K,Hoshino A,Imadome KI,Kamiya T,Inoue K,Okano T,Yeh TW,Yanagimachi M,Shiraishi A,Ishimura M,Schober T,Rohlfs M,Takagi M,Imai K,Takada H,Ohga S,Klein C,Morio T,Kanegane H

更新日期：2019-02-04 00:00:00

abstract：:Introduction: Autosomal recessive polycystic kidney disease (ARPKD) is a severe hepatorenal disorder of childhood. Early renal disease in ARPKD may require renal replacement therapy and is associated with failure to thrive resulting in a need for nasogastric tube feeding or gastrostomy. In ARPKD patients, the benefit ...

journal_title：Frontiers in pediatrics

authors： Burgmaier K,Brandt J,Shroff R,Witters P,Weber LT,Dötsch J,Schaefer F,Mekahli D,Liebau MC

更新日期：2018-06-04 00:00:00