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 with other clinical features as congenital anomalies of kidney and urinary tract (primary obstructed megaureter, POM), cryptorchidism and cardiac involvement (patent foramen ovale with atrial septum aneurysm). To the best of our knowledge, cryporchidism and POM have never been reported before in patients with HCS. Moreover, a cardiac involvement has been described only in another case of HCS that, interestingly, presents the same genetic abnormalities as our patient. The diagnosis of HCS can be difficult because neurological signs are aspecific and kidney stones are commonly absent during the first months of life. A better understanding of the complete clinical scenario associated with HCS can help clinicians suspect, diagnose and treat HCS earlier with a positive influence on both neurological and renal outcome.
journal_name
Front Pediatrjournal_title
Frontiers in pediatricsauthors
Taroni F,Capone V,Berrettini A,De Marco EA,Manzoni GA,Montini Gdoi
10.3389/fped.2019.00127subject
Has Abstractpub_date
2019-04-09 00:00:00pages
127issn
2296-2360journal_volume
7pub_type
abstract::Background Aim: The aim of this study was to examine the sleep characteristics of children and explore associations with various socio-demographic factors in an area of Greece characterized by cultural diversity. Methods: A questionnaire about children's sleep habits had been distributed to parents of children who vis...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00023
更新日期:2020-02-12 00:00:00
abstract::There is a growing awareness of the role that increased pulmonary vascular resistance (PVR) plays in many pathologies; therefore, assessment of pulmonary artery pressure (PAP) is an increasingly requested investigation in the critical care environment. This article will go through the basic concepts regarding PAP and ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2017.00168
更新日期:2017-09-04 00:00:00
abstract::Introduction: Children younger than 2 years have an increased risk of complications associated with tuberculosis (TB) due to the immaturity of the innate and adaptive immune response. We aimed to identify TB clinical presentations and outcomes as well as risk factors for complications in this age group. Materials and ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2019.00238
更新日期:2019-06-11 00:00:00
abstract::Differences in the development of the male and female brain are an evolving area of investigation. We are beginning to understand the underpinnings of male and female advantages due to differences in brain development as well as the consequences following hypoxic-ischemic brain injury in the newborn. The two main fact...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2019.00211
更新日期:2019-06-26 00:00:00
abstract::Purpose: To explore the lung function of bronchopulmonary dysplasia (BPD) in premature infants to guide clinical prevention, early diagnosis and treatment. Methods: Thirty infants with BPD at 4-36 months of corrected gestational age were enrolled and divided into mild BPD and moderate and severe BPD groups. Thirty ful...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2019.00540
更新日期:2020-01-10 00:00:00
abstract::Objective: Magnetic resonance imaging (MRI) and cardiac catheterization are diagnostic tools for right ventricle dysfunction (RVD), but those are expensive and often unavailable techniques. Thus, our objective was to identify clinical and/or echocardiographic variables capable of predicting a catheterization-based dia...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2018.00181
更新日期:2018-06-26 00:00:00
abstract::Background: Pediatric sports-induced concussions have become a topic of interest and concern in the scientific community. Already, the literature is rich with studies that have identified numerous short-term and long-term consequences of childhood sports-induced concussions. However, there are very few studies that ha...
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pub_type: 杂志文章
doi:10.3389/fped.2020.526986
更新日期:2020-09-24 00:00:00
abstract::Objective: To investigate the relationship of overnutrition (obese and overweight) with severity of illness in children hospitalized with acute lower respiratory infections (ALRIs), frequency of viral coinfections and leptin levels. Methods: We studied 124 children <2 years old that were hospitalized for ALRI. Nutriti...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00044
更新日期:2020-02-18 00:00:00
abstract::Background: Necrotizing enterocolitis (NEC) is an often-fatal neonatal disease involving intestinal hyperinflammation leading to necrosis. Despite ongoing research, (1) conflicting results and (2) comorbidities of NEC patients make early NEC detection challenging and may complicate therapy development. Most research s...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.593926
更新日期:2021-01-06 00:00:00
abstract::To date, the only known effective treatment for celiac disease (CD) is a strict gluten-free diet (GFD) for life. Patients with CD often find it difficult to adhere to strict GFD. Oats, compared with wheat, barley, and rye, contain less amounts of prolamins. Inclusion of oats in a GFD might be valuable due to their nut...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2019.00384
更新日期:2019-09-26 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
pub_type: 杂志文章
doi:10.3389/fped.2020.00237
更新日期:2020-05-28 00:00:00
abstract::Fetal sex is associated with striking differences during in utero development, fetal-to-neonatal transition, and postnatal morbidity and mortality. Male sex fetuses are apparently protected while in utero resulting in a higher secondary sex rate for males than for females. However, during fetal-to-neonatal transition ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2018.00063
更新日期:2018-04-23 00:00:00
abstract::Pertussis, caused by Bordetella (B.) pertussis, a Gram-negative bacterium, is a highly contagious airway infection. Especially in infants, pertussis remains a major health concern. Acute infection with B. pertussis can cause severe illness characterized by severe respiratory failure, pulmonary hypertension, leucocytos...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2016.00052
更新日期:2016-06-08 00:00:00
abstract::Introduction: Primary repair of esophageal atresia (EA) in infants with very low birth weight (VLBW) and extremely low birth weight (ELBW) has been widely performed in pediatric surgery. However, several studies have shown that complication rates in infants with VLBW are high. We hypothesize preterm children benefit f...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.587285
更新日期:2020-11-17 00:00:00
abstract::High-pressure processing (HPP) is a non-thermal technology that is being increasingly applied in food industries worldwide. It was proposed that this method could be used as an alternative to holder pasteurization (HoP; 62.5°C, 30 min) in milk banks but its impact on the immunologic, enzymatic and hormonal components ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2018.00323
更新日期:2018-11-16 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
pub_type: 杂志文章
doi:10.3389/fped.2015.00063
更新日期:2015-07-07 00:00:00
abstract::A subset of patients with Ataxia-Telangiectasia (A-T) have dramatically reduced levels of IgG, IgA, and IgE with retained or elevated IgM levels. Several reports suggest that these A-T patients with a "hyper-IgM phenotype" (HIgM) suffer more clinical immunologic consequences than other A-T patients. The immunopatholog...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2019.00390
更新日期:2019-10-24 00:00:00
abstract::Data regarding the safety of using therapeutic hypothermia (TH) with extracorporeal membrane oxygenation (ECMO) in neonates with both hypoxic ischemic encephalopathy (HIE), and respiratory failure are lacking. TH is not associated with an increased incidence of hemostatic complications, but hypothermia may impair coag...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2019.00095
更新日期:2019-03-22 00:00:00
abstract::Isoflavones are dietary phytoestrogens commonly found in soy-based products. The widespread presence of isoflavones in soy infant formula and breast milk may have long-lasting effects on the development of sex hormone-sensitive organs like the skeleton. Animal early-life programming models are suitable for testing the...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2020.00563
更新日期:2020-09-11 00:00:00
abstract::We describe a previously healthy 14-year-old girl with acute onset autoimmune hemolytic anemia, associated with severe but transient lymphopenia during corticosteroid therapy, without infectious episodes during follow-up. After detailed investigations to rule out an underlying immunodeficiency, we detected a heterozyg...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2018.00272
更新日期:2018-10-01 00:00:00
abstract::The glomerular basement membrane (GBM) is a specialized structure with a significant role in maintaining the glomerular filtration barrier. This GBM is formed from the fusion of two basement membranes during development and its function in the filtration barrier is achieved by key extracellular matrix components inclu...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2018.00011
更新日期:2018-01-29 00:00:00
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journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2020.00013
更新日期:2020-01-31 00:00:00
abstract::Introduction: Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare and life-threatening autosomal recessive disorder of mitochondrial fatty acid oxidation caused by variation of the Solute carrier family 25 member 20 (SLC25A20) gene. Carnitine-acylcarnitine translocase is one of the crucial transport prote...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2020.585646
更新日期:2020-10-30 00:00:00
abstract:BACKGROUND:Acute gastroenteritis (AGE) causing dehydration with or without dysnatremias is a common childhood health challenge. While it is accepted that oral rehydration therapy is preferred, clinical factors or parent and healthcare provider preferences may lead to intravenous rehydration (IVR). Isotonic solutions ar...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2017.00210
更新日期:2017-10-06 00:00:00
abstract::Background: Factors surrounding pediatricians' parenting advice and training on parenting during residency have not been well studied. The Resident Parenting Questionnaire (RPQ) was developed to assess (a) the relationship between pediatric residents' upbringing and their parenting advice style and (b) factors associa...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2018.00395
更新日期:2018-12-12 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
pub_type: 杂志文章
doi:10.3389/fped.2020.00410
更新日期:2020-07-24 00:00:00
abstract::Introduction: Emergency vascular access is rarely required during neonatal resuscitation. We aimed to analyze frequency of use, success, and complication rates of intraosseous (IO) vascular access in neonates at a single tertiary neonatal intensive care unit. Method: We performed a questionnaire-based survey among ped...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.571285
更新日期:2020-09-18 00:00:00
abstract::Oxidative stress results from excessive reactive oxygen species formation and/or inadequate antioxidant defense. Premature and critically ill infants are especially susceptible due to an immature intrinsic antioxidant system that cannot fully compensate for a free radical load. Oxidative stress is also associated with...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00279
更新日期:2020-06-02 00:00:00
abstract::Objective: To examine the understanding of the concept peak oxygen uptake (peak VO2) among children and adolescents at different ages from a developmental perspective. Methods: A total of 549 children and adolescents aged 8 to 16 were recruited and instructed to fill in a 20-item Peak VO2Understanding Inventory develo...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.599571
更新日期:2021-01-14 00:00:00
abstract::Introduction: Hepatic arteriovenous fistula (HAVF) is an abnormal communication between the hepatic arteries and hepatic veins. This condition is treated mainly using interventional closure and surgery. However, these procedures are associated with many postoperative complications and high mortality. Propranolol and o...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2020.00163
更新日期:2020-04-21 00:00:00