Abstract:
BACKGROUND:13q33-q34 microdeletions are rare chromosomal aberrations associated with a high risk of developmental disability, facial dysmorphism, cardiac defects and other malformation of organs. It is necessary to collect and report evidence of this rare chromosome mutation to improve the prognosis of this rare disease. CASE PRESENTATION:We report a patient harboring an 11.56 Mb microdeletion at 13q33.1-34 region, which contains about 30 OMIM genes. Besides the common clinical manifestations such as facial dysmorphism, developmental delay, intellectual disability, epilepsy, and congenital heart disease, she also suffered from a reduced anogenital distance, hematuria and left renal hypoplasia. Most related cases were characterized by facial deformity and heart defects, but there were few reports on renal malformation, especially regarding renal hypoplasia with hematuria. CONCLUSION:We have reported a patient suffering from a reduced anogenital distance, hematuria and left renal hypoplasia. A de novo 11.56 Mb deletion ranging from 13q33.1 to 13q34 (Chr13:103542220-115,106,996) was found by SNP-array analysis. It might be the first time for hematuria and renal hypoplasia to be reported as symptoms of 13q33-q34 deletion syndrome Neurodevelopmental disability, heart defects and urogenital/anorectal anomalies may be resulted from common or overlapping regions of deletion in chromosome bands 13q33.1-q34 and may share a common molecular mechanism.
journal_name
BMC Pediatrjournal_title
BMC pediatricsauthors
He X,Shen H,Fu H,Feng C,Liu Z,Jin Y,Mao Jdoi
10.1186/s12887-020-02205-7subject
Has Abstractpub_date
2020-07-02 00:00:00pages
327issue
1issn
1471-2431pii
10.1186/s12887-020-02205-7journal_volume
20pub_type
杂志文章相关文献
BMC Pediatrics文献大全abstract:BACKGROUND:Ascaris lumbricoides infections are one of the commonnest intestinal nematode infections in the world, with a profound negative effect on nutritional status among underprivileged populations. In Sri Lanka, Ascaris infections and low nutritional status still persist in the plantation sector. However, research...
journal_title:BMC pediatrics
pub_type: 杂志文章
doi:10.1186/s12887-018-0984-3
更新日期:2018-01-25 00:00:00
abstract:BACKGROUND:Systematic reviews are key tools to enable decision making by healthcare providers and policymakers. Despite the availability of the evidence based Preferred Reporting Items for Systematic reviews and Meta-Analysis (PRISMA-2009 and PRISMA-P 2015) statements that were developed to improve the transparency and...
journal_title:BMC pediatrics
pub_type: 杂志文章
doi:10.1186/s12887-017-0812-1
更新日期:2017-03-06 00:00:00
abstract:BACKGROUND:Acute mountain sickness (AMS) is commonly found among people traveling above 2500 m. We investigated whether the occurrence of AMS is related to differences in individual physical fitness and BMI in subjects 11-13 years of age. METHODS:This study was conducted at Xue Mountain, Taiwan (elevation of 3886 m) b...
journal_title:BMC pediatrics
pub_type: 杂志文章
doi:10.1186/s12887-015-0373-0
更新日期:2015-05-08 00:00:00
abstract:BACKGROUND:The Cochrane Neonatal Review Group (CNRG) has achieved a lot with limited resources in producing high quality systematic reviews to assist clinicians in evidence-based decision-making. A formal assessment of published CNRG systematic reviews has not been undertaken; we sought to provide a comprehensive asses...
journal_title:BMC pediatrics
pub_type: 杂志文章
doi:10.1186/1471-2431-9-38
更新日期:2009-06-17 00:00:00
abstract:BACKGROUND:Sustained inflations (SI) are advocated for the rapid establishment of FRC after birth in preterm and term infants requiring resuscitation. However, the most appropriate way to deliver a SI is poorly understood. We investigated whether a volume-limited SI improved the establishment of FRC and ventilation hom...
journal_title:BMC pediatrics
pub_type: 杂志文章
doi:10.1186/1471-2431-14-43
更新日期:2014-02-15 00:00:00
abstract:BACKGROUND:The Medical Home model recommends that Children with Special Health Care Needs (CSHCN) receive a medical care plan, outlining the child's major medical issues and care needs to assist with care coordination. While care plans are a primary component of effective care coordination, the creation and maintenance...
journal_title:BMC pediatrics
pub_type: 杂志文章
doi:10.1186/1471-2431-13-10
更新日期:2013-01-19 00:00:00
abstract:BACKGROUND:Human Papillomavirus (HPV) vaccination coverage is below national goals in the United States. Research is needed to inform strategically designed interventions that target sociodemographic groups with underutilization of HPV vaccination. METHODS:Secondary data analysis of the National Immunization Survey-Te...
journal_title:BMC pediatrics
pub_type: 杂志文章
doi:10.1186/s12887-017-0953-2
更新日期:2017-12-01 00:00:00
abstract:BACKGROUND:Pediatric non-adherence to antiretroviral therapy (ART), loss to follow-up, and HIV drug resistance (HIVDR) are challenges to achieving UNAIDS' targets of 90% of those diagnosed HIV-positive receiving treatment, and 90% of those receiving treatment achieving viral suppression. In Kenya, the pediatric populat...
journal_title:BMC pediatrics
pub_type: 杂志文章
doi:10.1186/s12887-018-1209-5
更新日期:2018-07-25 00:00:00
abstract:BACKGROUND:The human foot is shaped throughout all life in a way that is individual for every human being. Footwear fitting in the process of foot development is the issue covered by a limited range of empirical studies. This prompted the authors to undertake this subject of the study aimed at the influence of fitting ...
journal_title:BMC pediatrics
pub_type: 杂志文章
doi:10.1186/s12887-020-02245-z
更新日期:2020-07-20 00:00:00
abstract:BACKGROUND:Breastfeeding offers incredible health benefits to both child and mother. It is suggested by World Health Organization that an able mother should practice and maintain exclusive breastfeeding for first six months of her infant's life. The objective of this study was to determine the prevalence and factors as...
journal_title:BMC pediatrics
pub_type: 杂志文章
doi:10.1186/s12887-018-1076-0
更新日期:2018-03-02 00:00:00
abstract:BACKGROUND:Recent research published in this journal highlighted the issue of the high content of aluminium in infant formulas. The expectation was that the findings would serve as a catalyst for manufacturers to address a significant problem of these, often necessary, components of infant nutrition. It is critically i...
journal_title:BMC pediatrics
pub_type: 杂志文章
doi:10.1186/1471-2431-13-162
更新日期:2013-10-08 00:00:00
abstract:BACKGROUND:Clinical factors that affect the likelihood of abuse in children with femur fractures have not been well elucidated. Consequently, specifying which children with femur fractures warrant an abuse evaluation is difficult. Therefore the purpose of this study is to estimate the proportion of femur fractures in y...
journal_title:BMC pediatrics
pub_type: 杂志文章,评审
doi:10.1186/1471-2431-14-169
更新日期:2014-07-02 00:00:00
abstract:BACKGROUND:There are no standard criteria for when to discontinue intravenous antimicrobial therapy (IVAMT) in children with febrile neutropenia (FN), but it is now common to discontinue IVAMT and discharge patients with an absolute neutrophil count (ANC) < or = 500/mm3. The purpose of this study was to evaluate the ou...
journal_title:BMC pediatrics
pub_type: 杂志文章
doi:10.1186/1471-2431-5-10
更新日期:2005-05-18 00:00:00
abstract:BACKGROUND:Determining the background incidence of intussusception is important in countries implementing rotavirus immunization. Rotavirus immunization was introduced into the routine infant immunization program in Israel during late 2010. Incidence and risk factors for intussusception were examined in children aged l...
journal_title:BMC pediatrics
pub_type: 杂志文章
doi:10.1186/1471-2431-14-218
更新日期:2014-08-31 00:00:00
abstract:BACKGROUND:The influence of socio-economic determinants on choice of infant male circumcision provider is not known in areas with high population coverage such as rural Africa. The overall aim of this study was to determine the key socio-economic factors which influence the choice of infant male circumcision provider i...
journal_title:BMC pediatrics
pub_type: 杂志文章
doi:10.1186/s12887-017-0937-2
更新日期:2017-08-29 00:00:00
abstract:BACKGROUND:Congenital tufting enteropathy (CTE) is a rare disease that manifests as intractable diarrhea during the neonatal period which is associated with mutations of the epithelial cell adhesion molecule (EpCAM) gene. CASE PRESENTATION:A male infant who presented with vomiting, diarrhea, abdominal distention, maln...
journal_title:BMC pediatrics
pub_type: 杂志文章
doi:10.1186/s12887-020-1999-0
更新日期:2020-03-23 00:00:00
abstract:BACKGROUND:Intramuscular vitamin A supplementation decreases the risk of bronchopulmonary dysplasia (BPD) in very-low-birth-weight preterm infants without significant adverse effects. However, intramuscular vitamin A supplementation is not widely accepted because of the discomfort and risk of trauma associated with rep...
journal_title:BMC pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1186/s12887-017-0958-x
更新日期:2017-12-16 00:00:00
abstract:BACKGROUND:Paracetamol (also known as acetaminophen) is the commonest available analgesic and anti-pyretic. It is readily accessed from pharmacy, patent medicine and provision shops as over the counter drug making it a potential drug of abuse, especially in children. We sought to find its use and/or misuse in children ...
journal_title:BMC pediatrics
pub_type: 杂志文章
doi:10.1186/1471-2431-12-103
更新日期:2012-07-19 00:00:00
abstract:BACKGROUND:There is increasing evidence that tight blood glucose (BG) control improves outcomes in critically ill adults. Children show similar hyperglycaemic responses to surgery or critical illness. However it is not known whether tight control will benefit children given maturational differences and different diseas...
journal_title:BMC pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1186/1471-2431-10-5
更新日期:2010-02-05 00:00:00
abstract:BACKGROUND:The use of mobile touch screen devices, e.g. smartphones and tablet computers, has become increasingly prevalent among adolescents. However, little is known about how adolescents use these devices and potential influences on their use. Hence, this qualitative study explored adolescents' perceptions on their ...
journal_title:BMC pediatrics
pub_type: 杂志文章
doi:10.1186/s12887-019-1399-5
更新日期:2019-01-24 00:00:00
abstract:BACKGROUND:Screening for elevated serum alanine aminotransferase (ALAT) can help identifying individuals at the risks of chronic and metabolic diseases, but blood collection is invasive and cannot be widely used for investigations. Considered as simple and inexpensive screening indices, individual characteristics and a...
journal_title:BMC pediatrics
pub_type: 杂志文章
doi:10.1186/s12887-020-02033-9
更新日期:2020-03-20 00:00:00
abstract:BACKGROUND:Severe dehydration is generally believed to be a cause of significant hyperbilirubinemia in newborn babies. This study aimed to analyze the weight loss of healthy term newborn infants at 24, 48 and 72 hours after birth to predict significant hyperbilirubinemia at 72 hours. METHODS:From January 2007 to Decem...
journal_title:BMC pediatrics
pub_type: 杂志文章
doi:10.1186/1471-2431-13-145
更新日期:2013-09-21 00:00:00
abstract:BACKGROUND:Intraventricular hemorrhage (IVH) is a frequent complication in extreme and very preterm births. Despite a high risk of death and impaired neurodevelopment, the precise prognosis of infants with IVH remains unclear. The objective of this study was to evaluate the rate and predictive factors of evolution to p...
journal_title:BMC pediatrics
pub_type: 杂志文章
doi:10.1186/s12887-018-1249-x
更新日期:2018-08-31 00:00:00
abstract:BACKGROUND:Complications during pregnancy, childbirth and/or the postnatal period may result in the admission of a baby to a neonatal unit (NNU). While the survival and long-term prospects of high-risk infants are enhanced by admission, the enforced separation of the parent and child may have psychological consequences...
journal_title:BMC pediatrics
pub_type: 杂志文章
doi:10.1186/s12887-017-0917-6
更新日期:2017-07-11 00:00:00
abstract:BACKGROUND:Concepts such as participation and environment may differ across cultures. Consequently, to use a measure like the Participation and Environment Measure for Children and Youth (PEM-CY) in other than the original English-speaking contexts, cultural adaptation needs to be assured. The aim of this study was to ...
journal_title:BMC pediatrics
pub_type: 杂志文章
doi:10.1186/s12887-020-02343-y
更新日期:2020-10-24 00:00:00
abstract:BACKGROUND:Early detection of and intervention in childhood adversity has powerful potential to improve the health and well-being of children. A systematic review was conducted to better understand the pediatric health outcomes associated with childhood adversity. METHODS:PubMed, PsycArticles, and CINAHL were searched...
journal_title:BMC pediatrics
pub_type: 杂志文章,评审
doi:10.1186/s12887-018-1037-7
更新日期:2018-02-23 00:00:00
abstract:BACKGROUND:Hyperglycemia often occurs in premature, very low birthweight infants (VLBW) due to immaturity of endogenous regulatory systems and the stress of their condition. Hyperglycemia in neonates has been linked to increased morbidities and mortality and occurs at increasing rates with decreasing birthweight. In th...
journal_title:BMC pediatrics
pub_type: 临床试验,杂志文章
doi:10.1186/1471-2431-12-117
更新日期:2012-08-07 00:00:00
abstract:BACKGROUND:Stimulation is the most common intervention during neonatal resuscitation at birth, but scarce information is available on the actual methods, timing and efficacy of this basic step. To evaluate the occurrence, patterns and response to tactile stimulation at birth in a low-resource setting. METHODS:We revie...
journal_title:BMC pediatrics
pub_type: 杂志文章
doi:10.1186/s12887-018-1279-4
更新日期:2018-09-20 00:00:00
abstract:BACKGROUND:The Global Trigger Tool (GTT),which is a method using "triggers" to review medical record retrospectively to identify possible adverse events. Several studies showed that the GTT was effective. However, there were only a few localized trigger tools that had been established to detect pediatric adverse drug e...
journal_title:BMC pediatrics
pub_type: 杂志文章
doi:10.1186/s12887-020-02354-9
更新日期:2020-09-29 00:00:00
abstract:BACKGROUND:Although breastfeeding duration in New Zealand's indigenous Māori is shorter than in non-Māori, we know little about barriers or motivators of breastfeeding in this community. The aim of this analysis was to identify predictors for extended duration of breastfeeding amongst participants drawn from predominan...
journal_title:BMC pediatrics
pub_type: 杂志文章
doi:10.1186/s12887-018-1274-9
更新日期:2018-09-12 00:00:00