keyword
https://read.qxmd.com/read/38536866/diagnostic-findings-and-yield-of-investigations-for-children-with-developmental-regression
#1
JOURNAL ARTICLE
Kirsten Furley, Matthew F Hunter, Michael Fahey, Katrina Williams
Childhood conditions that feature developmental regression are poorly understood. Phenotype-genotype characterization and diagnostic yield data are needed to inform clinical decision-making. The aim of this study was to report the conditions featuring developmental regression and assess diagnostic yields of investigations. A retrospective chart review of children presenting with developmental regression to a tertiary pediatric genetic clinic between 2018 and 2021 was performed. Of 99 children, 30% (n = 30) had intellectual disability (ID), 21% (n = 21) were autistic, 39% (n = 39) were autistic with ID, and 9% (n = 9) did not have ID or autism...
March 27, 2024: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/38534508/contractile-and-genetic-characterization-of-cardiac-constructs-engineered-from-human-induced-pluripotent-stem-cells-modeling-of-tuberous-sclerosis-complex-and-the-effects-of-rapamycin
#2
JOURNAL ARTICLE
Veniamin Y Sidorov, Tatiana N Sidorova, Philip C Samson, Ronald S Reiserer, Clayton M Britt, M Diana Neely, Kevin C Ess, John P Wikswo
The implementation of three-dimensional tissue engineering concurrently with stem cell technology holds great promise for in vitro research in pharmacology and toxicology and modeling cardiac diseases, particularly for rare genetic and pediatric diseases for which animal models, immortal cell lines, and biopsy samples are unavailable. It also allows for a rapid assessment of phenotype-genotype relationships and tissue response to pharmacological manipulation. Mutations in the TSC1 and TSC2 genes lead to dysfunctional mTOR signaling and cause tuberous sclerosis complex (TSC), a genetic disorder that affects multiple organ systems, principally the brain, heart, skin, and kidneys...
February 28, 2024: Bioengineering
https://read.qxmd.com/read/38533559/scleral-fixated-vs-iris-fixated-intraocular-lens-in-pediatric-ectopia-lentis-a-systematic-review
#3
REVIEW
Siti Halida Zoraida Soraya Alamsjah, Dian Estu Yulia, Sabrina Tan
Numerous intraocular lens (IOLs) options are available for treating pediatric ectopia lentis, and this paper reviews recent literature on pediatric ectopia lentis treatment with iris-fixated and scleral-fixated IOLs. A comprehensive search was undertaken on PubMed, Embase, ProQuest, Cochrane, Wiley, SCOPUS, and EBSCO. Studies published in the last ten years that met the inclusion criteria were included in this review. Seventeen studies exhibiting low to moderate risk of bias were included in this review, with eight on iris-fixated IOL (IFIOL), six on scleral-fixated IOL (SFIOL), and three on both IOLs...
March 27, 2024: European Journal of Ophthalmology
https://read.qxmd.com/read/38532733/characterization-of-fine-motor-and-visual-motor-skills-in-aicardi-gouti%C3%A3-res-syndrome
#4
JOURNAL ARTICLE
Stacy V Cusack, Francesco Gavazzi, Isabella Peixoto de Barcelos, Nicholson B Modesti, Sarah Woidill, Brielle Formanowski, Sara B DeMauro, Scott Lorch, Ariel Vincent, Abbas F Jawad, Timothy Estilow, Allan M Glanzman, Adeline Vanderver, Laura A Adang
Aicardi-Goutières syndrome is a genetic inflammatory disorder resulting in dispersed neurologic dysfunction. Despite a recognition of overall motor impairment, fine and visual motor skills are undercharacterized. We hypothesize that there is a spectrum of fine and visual motor skills in the Aicardi-Goutières syndrome population as captured by a standard outcome measure, the Peabody Developmental Motor Scales (PDMS-2), which will be proportional to overall disease severity.In a cohort of 74 subjects, the Peabody Developmental Motor Scales-2 grasping and visual-motor integration subtests were administered concurrently with the Aicardi-Goutières syndrome Severity Scale (severe [range 0-3], moderate [range 4-8], and attenuated [range 9-11])...
March 27, 2024: Journal of Child Neurology
https://read.qxmd.com/read/38532453/current-prospects-of-hereditary-adrenal-tumors-towards-better-clinical-management
#5
REVIEW
Akihiro Ohmoto, Naomi Hayashi, Shunji Takahashi, Arisa Ueki
Adrenocortical carcinoma (ACC) and pheochromocytoma/paraganglioma (PPGL) are two rare types of adrenal gland malignancies. Regarding hereditary tumors, some patients with ACC are associated with with Li-Fraumeni syndrome (LFS), and those with PPGL with multiple endocrine neoplasia type 2. Recent studies have expanded this spectrum to include other types of hereditary tumors, such as Lynch syndrome or familial adenomatous polyposis. Individuals harboring germline TP53 pathogenic variants that cause LFS have heterogeneous phenotypes depending on the respective variant type...
March 26, 2024: Hereditary Cancer in Clinical Practice
https://read.qxmd.com/read/38531627/variant-characterisation-and-clinical-profile-in-a-large-cohort-of-patients-with-ellis-van-creveld-syndrome-and-a-family-with-weyers-acrofacial-dysostosis
#6
JOURNAL ARTICLE
Umut Altunoglu, Adrian Palencia-Campos, Nilay Güneş, Gozde Tutku Turgut, Julian Nevado, Pablo Lapunzina, Maria Valencia, Asier Iturrate, Ghada Otaify, Rasha Elhossini, Adel Ashour, Asmaa K Amin, Rania F Elnahas, Elisa Fernandez-Nuñez, Carmen-Lisset Flores, Pedro Arias, Jair Tenorio, Carlos Israel Chamorro Fernández, Yeliz Güven, Elif Özsu, Beray Selver Eklioğlu, Marisol Ibarra-Ramirez, Birgitte Rode Diness, Birute Burnyte, Houda Ajmi, Zafer Yüksel, Ruken Yıldırım, Edip Ünal, Ebtesam Abdalla, Mona Aglan, Hulya Kayserili, Beyhan Tuysuz, Victor Ruiz-Pérez
BACKGROUND: Ellis-van Creveld syndrome (EvC) is a recessive disorder characterised by acromesomelic limb shortening, postaxial polydactyly, nail-teeth dysplasia and congenital cardiac defects, primarily caused by pathogenic variants in EVC or EVC2 . Weyers acrofacial dysostosis (WAD) is an ultra-rare dominant condition allelic to EvC. The present work aimed to enhance current knowledge on the clinical manifestations of EvC and WAD and broaden their mutational spectrum. METHODS: We conducted molecular studies in 46 individuals from 43 unrelated families with a preliminary clinical diagnosis of EvC and 3 affected individuals from a family with WAD and retrospectively analysed clinical data...
March 26, 2024: Journal of Medical Genetics
https://read.qxmd.com/read/38531362/monitoring-spinal-muscular-atrophy-with-three-dimensional-optoacoustic-imaging
#7
JOURNAL ARTICLE
Emmanuel Nedoschill, Alexandra L Wagner, Vera Danko, Adrian Buehler, Roman Raming, Jörg Jüngert, Markus F Neurath, Maximilian J Waldner, Ulrich Rother, Joachim Woelfle, Regina Trollmann, Ferdinand Knieling, Adrian P Regensburger
BACKGROUND: Spinal muscular atrophy is a progressive neuromuscular disorder and among the most frequent genetic causes of infant mortality. While recent advancements in gene therapy provide the potential to ameliorate the disease severity, there is currently no modality in clinical use to visualize dynamic pathophysiological changes in disease progression and regression after therapy. METHODS: In this prospective diagnostic clinical study, ten pediatric patients with spinal muscular atrophy and ten age- and sex-matched controls have been examined with three-dimensional optoacoustic imaging and clinical standard examinations to compare the spectral profile of muscle tissue and correlate it with motor function (ClinicalTrials...
March 18, 2024: Med
https://read.qxmd.com/read/38529810/medulloblastoma-in-a-child-with-osteoma-cutis%C3%A2-a-rare-association-due-to-loss-of-gnas-expression
#8
Jananie Suntharesan, Ekaterina Lyulcheva-Bennett, Rachel Hart, Barry Pizer, James Hayden, Renuka Ramakrishnan
OBJECTIVES: Inactivating GNAS mutations result in varied phenotypes depending on parental origin. Maternally inherited mutations typically lead to hormone resistance and Albright's hereditary osteodystrophy (AHO), characterised by short stature, round facies, brachydactyly and subcutaneous ossifications. Paternal inheritance presents with features of AHO or ectopic ossification without hormone resistance. This report describes the case of a child with osteoma cutis and medulloblastoma...
March 27, 2024: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://read.qxmd.com/read/38529567/meaning-making-among-parents-of-children-with-severe-neurologic-impairment-in-the-picu
#9
JOURNAL ARTICLE
Jori F Bogetz, Ellie Oslin, Maeve O'Donnell, Krysta S Barton, Joyce P Yi-Frazier, R Scott Watson, Abby R Rosenberg
BACKGROUND AND OBJECTIVES: Parents and family caregivers of children with severe neurologic impairment (SNI) experience many stressors, especially during their child's critical illness. This study aimed to examine parent experiences around the time of their child's PICU care to explore ways parents make meaning in relation to these stressors. METHODS: This qualitative study of data from a single center in the United States followed Consolidated Criteria for Reporting Qualitative Research guidelines...
March 26, 2024: Pediatrics
https://read.qxmd.com/read/38529561/improving-accuracy-of-medication-reconciliation-for-hospitalized-children-a-quality-project
#10
JOURNAL ARTICLE
Samantha M Gunkelman, Jennifer Jamerino-Thrush, Katherine Genet, Martha Blackford, Kerwyn Jones, Michael T Bigham
BACKGROUND AND OBJECTIVES: Medication reconciliation is a complex, but necessary, process to prevent patient harm from medication discrepancies. Locally, the steps of medication reconciliation are completed consistently; however, medication errors still occur, which suggest process inaccuracies. We focused on removal of unnecessary medications as a proxy for accuracy. The primary aim was to increase the percentage of patients admitted to the pediatric hospital medicine service with at least 1 medication removed from the home medication list by 10% during the hospital stay by June of 2022...
March 26, 2024: Hospital Pediatrics
https://read.qxmd.com/read/38528770/yield-and-utility-of-routine-epilepsy-panel-genetic-testing-among-young-patients-with-seizures
#11
JOURNAL ARTICLE
Emily Grew, Mayuri Reddy, Hayley Reichner, Jinsoo Kim, Misbah Salam, Anjum Hashim
Objective: We examined the yield of routine epilepsy panel genetic testing in pediatric patients. Methods: We retrospectively reviewed epilepsy genetic panel results routinely performed in the hospital or clinic on patients <8 years old from July 2021 to July 2023. We evaluated demographics, family history, seizure type, severity, and frequency, development, tone and movement abnormalities, dysmorphism, and electroencephalography (EEG) or magnetic resonance imaging (MRI) results as predictors of results...
March 25, 2024: Journal of Child Neurology
https://read.qxmd.com/read/38527509/-clinical-and-genetic-spectrum-of-6-cases-with-asparagine-synthetase-deficiency
#12
JOURNAL ARTICLE
P P Song, X L Zhang, X L Li, D Xu, J L Wang, M M Chu, M Y Wang, T M Jia, K X Du, Y Dong
Objective: To explore the clinical and genetic characteristics of asparagine synthase deficiency. Methods: Case series studies. Retrospective analysis and summary of the clinical data of 6 cases with asparagine synthase deficiency who were diagnosed by genetic testing and admitted to the Third Affiliated Hospital of Zhengzhou University from May 2017 to April 2023 were analyzed retrospectively. The main clinical features, laboratory and imaging examination characteristics of the 6 cases were summarized, and the gene variation sites of them were analyzed...
March 25, 2024: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://read.qxmd.com/read/38527508/-diagnosis-and-treatment-of-arrhythmogenic-cardiomyopathy-in-children
#13
JOURNAL ARTICLE
W Q Ye, Y Y Xiao, X K Jiang, M Jin, X F Wang, W W Ding
Objective: To summarize the clinical manifestations, experiences in diagnosis and treatment of arrhythmogenic cardiomyopathy (ACM) in children. Methods: A retrospective analysis of the clinical manifestations, laboratory tests, radiological features, treatment and follow-up results was conducted in 11 children diagnosed with ACM at the center of congenital heart disease, Beijing anzhen hospital from May 2010 to March 2022. Results: A total of 11 patients aged 2 to 16 years, including 5 males and 6 females were diagnosed with ACM...
March 25, 2024: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://read.qxmd.com/read/38527506/-clinical-and-genetic-characteristics-of-21-children-with-rubinstein-taybi-syndrome
#14
JOURNAL ARTICLE
S H Yang, H R Liu, J Y Li, Y Zhang, Z Q Liu, L Wang, X L Chen, S F Shangguan
Objective: To investigate the phenotypes of Rubinstein-Taybi syndrome (RSTS) caused by variants in the CREBBP or EP300 gene, and the correlation between genotype and phenotype. Methods: This case series study was performed on pediatric patients who were referred to the Children's Hospital of Capital Institute of Pediatrics between January 2013 and July 2022. Both point variant and copy number deletion in CREBBP or EP300 gene were detected by whole exome sequencing, chromosomal microarray analysis, or copy number variation sequencing (CNV-seq)...
March 25, 2024: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://read.qxmd.com/read/38527505/-genotype-phenotype-analysis-of-fabry-disease-caused-by-gla-gene-variation-in-a-pedigree
#15
JOURNAL ARTICLE
Z H Ge, Z H Lu, X D Pan, T T Lai, M J Yang, H Q Yang, H B Zhang, G Y Li, Z Q Dai, J H Mao
Objective: To investigate the clinical phenotype and genetic characteristics of patients with Fabry disease caused by a GLA variant, IVS4+919G>A. Methods: It was a prospective study. Fabry disease screening was conducted among high-risk population in Ninghai from October 2021 to August 2023. Those children with decreased α-galactosidase enzyme activity<2.40 μmol/(L·h) or elavated Lyso-GL-3 level>1.10 μg/L in dried blood spot (DBS) method underwent GLA genetic testing for diagnosis confirmation...
March 25, 2024: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://read.qxmd.com/read/38527504/-multicenter-evaluation-of-minimal-residual-disease-monitoring-in-early-induction-therapy-for-treatment-of-childhood-acute-lymphoblastic-leukemia
#16
JOURNAL ARTICLE
X J Wu, N Liao, H R Mai, X Y Li, W Q Wan, L H Yang, L B Huang, X Q Luo, C Tian, Q W Chen, X J Long, Y Y He, Y Wang, Z G Li, H G Xu
Objective: To evaluate the role of minimal residual disease (MRD) monitoring during early induction therapy for the treatment of childhood acute lymphoblastic leukemia (ALL). Methods: This was a multicenter retrospective cohort study. Clinical data of 1 164 ALL patients first diagnosed between October 2016 and June 2019 was collected from 16 hospitals in South China Children's Leukemia Group. According to MRD assay on day 15 of early induction therapy, they were divided into MRD<0.10% group, MRD 0.10%-<10...
March 25, 2024: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://read.qxmd.com/read/38527429/the-intersection-of-epigenetic-alterations-and-developmental-state-in-pediatric-ependymomas
#17
REVIEW
Alisha Simone Kardian, Stephen Mack
BACKGROUND: Ependymomas are the third most common brain cancer in children and have no targeted therapies. They are divided into at least 9 major subtypes based on molecular characteristics and major drivers and have few genetic mutations compared to the adult form of this disease, leading to investigation of other mechanisms. SUMMARY: Epigenetic alterations such as transcriptional programs activated by oncofusion proteins and alterations in histone modifications play an important role in development of this disease...
March 25, 2024: Developmental Neuroscience
https://read.qxmd.com/read/38524181/a-comparative-study-of-genotyping-and-antimicrobial-resistance-between-carbapenem-resistant-klebsiella-pneumoniae-and-acinetobacter-baumannii-isolates-at-a-tertiary-pediatric-hospital-in-china
#18
JOURNAL ARTICLE
Xiaoli Jian, Yunyun Li, Haiping Wang, Cuilian Li, Feng Li, Jue Li, Jing Dong, Tingyi Du, Li Jiang
BACKGROUND: Carbapenem-resistant Klebsiella pneumoniae (CRKP) clinical isolations have rapidly increased in pediatric patients. To investigate a possible health care-associated infections of CRKP in a tertiary pediatric hospital, the circulating clones and carbapenem-resistant pattern between CRKP and carbapenem-resistant Acinetobacter baumannii (CRAB) isolates were compared to classify their epidemiological characteristics. The results will help to identify the epidemic pattern of the CRKP transmission in the hospital...
2024: Frontiers in Cellular and Infection Microbiology
https://read.qxmd.com/read/38523821/abdominal-migraine-with-acute-watery-diarrhea-and-dehydration-successful-treatment-with-valproic-acid-in-a-pediatric-case
#19
Mohammad Ashraful Amin, Ridwana Maher Manna, Sabrina Nahin, Mohammad Delwer Hossain Hawlader
Abdominal migraine (AM) is a prevalent pediatric condition that rarely affects adults. Multiple diagnostic criteria have been established, but in general, AM is characterized by unprovoked episodes of acute central abdominal pain with migrainous characteristics and periods of respite. Recurrent stomach pain is a prevalent symptom globally, with a significant portion of cases falling under the category of functional gastrointestinal disorders (FGIDs) due to the absence of identified biological causes. There is a notable prevalence of migraines among individuals with a family history of the condition, indicating a genetic predisposition...
March 2024: Clinical Case Reports
https://read.qxmd.com/read/38523390/camptodactyly-arthropathy-coxa-vara-pericarditis-syndrome-and-an-unusual-association-with-mitral-stenosis
#20
Duygu Şimşekli, Canan Ayabakan, Ayla Oktay, Ahmet Arnaz, Vusal Mahmudov, Yusuf Kenan Yalçınbaş
BACKGROUND: Campotodactyly-artrhropathy-coxa vara-pericarditis (CACP) syndrome is a very rare autosomal recessive genetic disorder. It is characterized by flexion contracture of the fifth finger (camptodactyly); noninflammatory arthropathy; decreased angle between the shaft and the head of the femur (coxa vara) and pericarditis. Its association with mitral stenosis has not yet been reported. Hereby we report this unique association with CACP syndrome. CASE: An eleven-year-old girl presented with non-productive cough, dyspnea, and orthopnea...
2024: Turkish Journal of Pediatrics
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