keyword
https://read.qxmd.com/read/38162157/chromosome-1p36-deletion-syndrome-four-patients-with-variable-presentations
#21
JOURNAL ARTICLE
Chakshu Chaudhry, Divya Kumari, Inusha Panigrahi, Parminder Kaur
Chromosome 1p36 deletion accounts for around 1% of cases of intellectual disability. The pattern of clinical features includes developmental delay, hypotonia, seizures, short stature, intellectual disability, vision and hearing deficits, congenital heart disease, and renal abnormalities. The size of deletion can be variable. We report four cases of 1p36 deletion syndrome detected in the past 3 years in a genetic clinic. One patient was detected by next-generation sequencing, another by chromosomal microarray, and the remaining two by multiplex ligation-dependent probe amplification...
December 2023: Journal of Pediatric Genetics
https://read.qxmd.com/read/38144635/diagnosis-of-22q11-2-deletion-syndrome-in-children-with-congenital-heart-diseases-and-facial-dysmorphisms
#22
JOURNAL ARTICLE
Manisha Agarwal, Vivek Kumar, Aradhana Dwivedi
BACKGROUND: Congenital heart diseases (CHDs) are the leading cause of birth defects. Approximately, 30% of CHDs are related to genetic syndromes accompanied by extracardiac anomalies. Aneuploidies and 22q11.2 deletions account for majority of cases. 22q11.2 deletion involves deletion of 30-40 genes, and varying deletions in this region lead to different phenotypes. Fluorescent in situ hybridization probes span a narrow region on chromosome 22 as compared to other recent techniques like multiplex ligation probe amplification assay (MLPA) which may also identify any gene duplications if present...
December 2023: Medical Journal, Armed Forces India
https://read.qxmd.com/read/38136279/telomere-maintenance-mechanisms-in-a-cohort-of-high-risk-neuroblastoma-tumors-and-its-relation-to-genomic-variants-in-the-tert-and-atrx-genes
#23
JOURNAL ARTICLE
Anna Djos, Ketan Thombare, Roshan Vaid, Jennie Gaarder, Ganesh Umapathy, Susanne E Reinsbach, Kleopatra Georgantzi, Jakob Stenman, Helena Carén, Torben Ek, Tanmoy Mondal, Per Kogner, Tommy Martinsson, Susanne Fransson
Tumor cells are hallmarked by their capacity to undergo unlimited cell divisions, commonly accomplished either by mechanisms that activate TERT or through the alternative lengthening of telomeres pathway. Neuroblastoma is a heterogeneous pediatric cancer, and the aim of this study was to characterize telomere maintenance mechanisms in a high-risk neuroblastoma cohort. All tumor samples were profiled with SNP microarrays and, when material was available, subjected to whole genome sequencing (WGS). Telomere length was estimated from WGS data, samples were assayed for the ALT biomarker c-circles, and selected samples were subjected to methylation array analysis...
December 7, 2023: Cancers
https://read.qxmd.com/read/38127131/diagnostic-and-prognostic-value-of-the-gut-microbiota-and-its-metabolite-butyrate-in-children-with-biliary-atresia
#24
JOURNAL ARTICLE
Xiaodan Xu, Yilin Zhao, Xueting Wang, Ruifeng Zhang, Shaowen Liu, Rongjuan Sun, Zhiru Wang, Liang Ge, Yan Sun, Shujian Zhang, Hui Ma, Jianghua Zhan
PURPOSE: To determine the prevalent microbiological profile of biliary atresia (BA) patients at the time of its occurrence by studying their intestinal flora. METHODS: A total of 118 gut microbiota samples from three groups of 43 BA patients, 33 disease controls (DC) with other cholestatic diseases and 42 healthy controls (HC), were analyzed by deep mining of public data. Subsequently, a total of 23 fecal samples from three groups of clinically collected patients (11 BA, 6 DC and 6 HC) were sequenced for 16S rRNA gene amplification and analyzed for serum butyrate (BU) level by liquid chromatography...
December 21, 2023: Pediatric Surgery International
https://read.qxmd.com/read/38125723/pd-l1-expressing-natural-killer-cells-predict-favorable-prognosis-and-response-to-pd-1-pd-l1-blockade-in-neuroblastoma
#25
JOURNAL ARTICLE
Mengjia Song, Yue Huang, Ye Hong, Juan Liu, Jia Zhu, Suying Lu, Juan Wang, Feifei Sun, Junting Huang, Jiaqian Xu, Yan Tang, Jian-Chuan Xia, Yizhuo Zhang
T/NK cell-based immunotherapy has achieved remarkable success in adult cancers but has limited efficacy in pediatric malignancies including high-risk neuroblastoma (NB). Immune defects of NB tumor microenvironment are poorly understood compared with adults. Here, we described the unique characteristics of NB immune contexture and determined the phenotype signatures of PD-L1-expressing CD8+ T and NK cells in NB tumors by systemically analyzing the spatial distribution of T and NK cells and the distinct expression of programmed death 1 (PD-1) and its ligand (PD-L1) in patients with NB...
2024: Oncoimmunology
https://read.qxmd.com/read/38110263/comparative-analysis-of-cartridge-based-nucleic-acid-amplification-test-cbnaat-with-conventional-methods-in-the-diagnosis-of-pediatric-tuberculosis-at-a-tertiary-care-center
#26
JOURNAL ARTICLE
Minakshi Johari, Rambabu Sharma, Dhan Raj Bagri, Bharti Malhotra
BACKGROUND: Tuberculosis is an important cause of morbidity and mortality among children. Early diagnosis and treatment in children are challenging, more so in resource-limited, tuberculosis-endemic countries. In 2017, the WHO endorsed the use of CBNAAT for tuberculosis diagnosis. We have undertaken this study to evaluate the diagnostic value of CBNAAT in pediatric tuberculosis in comparison to other methods like microscopic detection of acid-fast bacilli and detection of mycobacteria-by-mycobacteria growth indicator tube (MGIT)...
2023: Indian Journal of Tuberculosis
https://read.qxmd.com/read/38110257/stool-cbnaat-alternative-tool-in-the-diagnosis-of-pulmonary-tuberculosis-in-children
#27
REVIEW
Anurag Agarwal, Surendra Bahadur Mathur
Tuberculosis (TB) remains a significant public health concern, especially in children. The World Health Organization now provides estimates on pediatric TB cases and deaths, underscoring the urgency of addressing this issue. In India, childhood TB contributes significantly to the global burden, with a notable gap between reported cases and estimated incidence. Diagnosing pulmonary TB in children presents challenges, primarily due to difficulties in obtaining suitable respiratory specimens. Rapid tests like Cartridge-Based Nucleic Acid Amplification Test (CBNAAT) have shown promise in enhancing diagnostic sensitivity...
2023: Indian Journal of Tuberculosis
https://read.qxmd.com/read/38110251/role-of-line-probe-assay-in-detection-of-mycobacterium-tuberculosis-in-children-with-pulmonary-tuberculosis
#28
JOURNAL ARTICLE
Manisha Bangarwa, Dhulika Dhingra, Medha Mittal, Karnika Saigal, Arnab Ghosh
BACKGROUND: India is the highest TB burden country in the world with almost 27 lakh cases reported in 2019. Pediatric tuberculosis in India accounts for almost 31% of global TB burden. Despite such high mortality and morbidity in children, diagnosis of pulmonary TB in children still remains very challenging. MATERIAL AND METHODS: This cross-sectional study was conducted in a tertiary care hospital in Delhi, India. Children between 1 and 12 months with clinical suspicion of pulmonary tuberculosis who had not previously taken ATT were included...
2023: Indian Journal of Tuberculosis
https://read.qxmd.com/read/38100763/pediatric-neuroblastoma-with-intraspinal-extension-the-role-of-surgical-management
#29
JOURNAL ARTICLE
Diana Chang, Taemin Oh, Jarod L Roland, Katherine K Matthay, Kieuhoa T Vo, Caleb S Edwards, Peter P Sun, Kurtis I Auguste, Nalin Gupta
OBJECTIVE: Neuroblastoma with spinal involvement accounts for up to 30% of pediatric spinal tumors and can cause profound neurological deficits. Chemotherapy is the preferred treatment option, but in select patients resection may be indicated. The goal of this study was to identify preoperative factors that led to early surgical intervention, with a specific emphasis on identifying differences on long-term neurological function and spinal deformity in the recent treatment era. METHODS: A retrospective chart review was performed on all children diagnosed with neuroblastoma at a single institution from 2007 to 2020...
December 15, 2023: Journal of Neurosurgery. Pediatrics
https://read.qxmd.com/read/38087879/the-impact-of-an-additional-copy-of-chromosome-21-in-b-cell-precursor-acute-lymphoblastic-leukemia
#30
JOURNAL ARTICLE
Femke M Hormann, Eva J Mooij, Marieke van de Mheen, H Berna Beverloo, Monique L den Boer, Judith M Boer
A common finding in pediatric B-cell precursor acute lymphoblastic leukemia (BCPALL) is that chromosome 21 is never lost and an extra chromosome 21 is often gained. This implies an important role for chromosome 21 in the pathobiology of BCPALL, emphasized by the increased risk of BCPALL in children with Down syndrome. However, model systems of chromosome 21 gain are lacking. We therefore developed a BCPALL cell line (Nalm-6, DUX4-rearranged) with an additional chromosome 21 by means of microcell-mediated chromosome transfer...
December 12, 2023: Genes, Chromosomes & Cancer
https://read.qxmd.com/read/38079020/-de-novo-replication-repair-deficient-glioblastoma-idh-wildtype-is-a-distinct-glioblastoma-subtype-in-adults-that-may-benefit-from-immune-checkpoint-blockade
#31
JOURNAL ARTICLE
Sara Hadad, Rohit Gupta, Nancy Ann Oberheim Bush, Jennie W Taylor, Javier E Villanueva-Meyer, Jacob S Young, Jasper Wu, Ajay Ravindranathan, Yalan Zhang, Gayathri Warrier, Lucie McCoy, Anny Shai, Melike Pekmezci, Arie Perry, Andrew W Bollen, Joanna J Phillips, Steve E Braunstein, David R Raleigh, Philip Theodosopoulos, Manish K Aghi, Edward F Chang, Shawn L Hervey-Jumper, Joseph F Costello, John de Groot, Nicholas A Butowski, Jennifer L Clarke, Susan M Chang, Mitchel S Berger, Annette M Molinaro, David A Solomon
Glioblastoma is a clinically and molecularly heterogeneous disease, and new predictive biomarkers are needed to identify those patients most likely to respond to specific treatments. Through prospective genomic profiling of 459 consecutive primary treatment-naïve IDH-wildtype glioblastomas in adults, we identified a unique subgroup (2%, 9/459) defined by somatic hypermutation and DNA replication repair deficiency due to biallelic inactivation of a canonical mismatch repair gene. The deleterious mutations in mismatch repair genes were often present in the germline in the heterozygous state with somatic inactivation of the remaining allele, consistent with glioblastomas arising due to underlying Lynch syndrome...
December 11, 2023: Acta Neuropathologica
https://read.qxmd.com/read/38057715/pediatric-parosteal-osteosarcoma-of-the-distal-radius-causing-extensive-erosive-mass-effect-of-the-adjacent-ulna-a-case-report
#32
JOURNAL ARTICLE
Andrea Perloff, SeHoon Park, Robert Panganiban, John deVries
INTRODUCTION: Parosteal osteosarcomas are low-grade bony malignancies that are treated primarily with surgical resection and reconstruction. This report discusses a unique case of a pediatric patient who presented with a parosteal osteosarcoma of the distal radius causing extensive erosive mass effect and growth disturbance of the adjacent ulna. Likely due to their slow-growing nonaggressive nature, parosteal osteosarcomas have not been previously described to abut adjacent bony structures through direct contact...
December 6, 2023: BMC Musculoskeletal Disorders
https://read.qxmd.com/read/38056092/risk-factors-and-outcomes-in-patients-with-cochlear-nerve-deficiency
#33
JOURNAL ARTICLE
Meagan Nowariak, Natalie Strack, Lindsey Greenlund, Shilpa Hegde, Jessica Ls Novak, Abby Meyer, Brianne Barnett Roby
INTRODUCTION: Cochlear nerve deficiency (CND) is a cause of sensorineural hearing loss made by radiologic criteria. There is sparse literature involving audiological outcomes and cochlear implantation (CI) success in patients with CND. METHODS: A retrospective chart review of all patients with sensorineural hearing loss at a tertiary children's hospital from 2000 to 2020 was conducted. Patients with CND on radiographic imaging were included and categorized as hypoplastic, aplastic, or indeterminate...
January 2024: International Journal of Pediatric Otorhinolaryngology
https://read.qxmd.com/read/38051050/evidence-of-the-simultaneous-replications-of-active-viruses-in-specimens-positive-for-multiple-respiratory-viruses
#34
JOURNAL ARTICLE
Miyuki Kawase, Reiko Suwa, Satoko Sugimoto, Masatoshi Kakizaki, Yohei Kume, Mina Chishiki, Takashi Ono, Hisao Okabe, Sakurako Norito, Makoto Ujike, Mitsuaki Hosoya, Koichi Hashimoto, Kazuya Shirato
Since the pandemic of coronavirus diseases 2019, the use of real-time PCR assay has become widespread among people who were not familiar with it in virus detection. As a result, whether a high real-time PCR value in one time test indicates virus transmissibly became a complicated social problem, regardless of the difference in assays and/or amplification conditions, the time and number of diagnostic test during the time course of infection. In addition, the multiple positives in the test of respiratory viruses further add to the confusion in the interpretation of the infection...
December 5, 2023: Microbiology Spectrum
https://read.qxmd.com/read/38022870/association-between-il-10-at-position-592-and-il-4-at-position-589-genotype-polymorphism-with-atopic-and-non-atopic-asthma-in-children
#35
JOURNAL ARTICLE
Anahita Razaghian, Nima Parvaneh, Ali Akbar Amirzargar, Matineh Nirouei, Mohammad Gharagozlou
OBJECTIVES: Asthma is the most prevalent respiratory disease, caused by chronic bronchial inflammation. Cytokines are known to play an important role in the pathophysiology of asthma. This study aimed to compare interleukin-4 (IL-4) and interleukin-10 (IL-10) gene polymorphisms between Iranian pediatric asthmatic patients and healthy controls and to investigate IL4 and IL10 gene variations in children with atopic and non-atopic asthma phenotypes. METHODS: In this prospective case-control study, a total of 95 unrelated pediatric asthmatic patients were recruited according to the Global Initiative for Asthma (GINA) criteria...
2023: American Journal of Clinical and Experimental Immunology
https://read.qxmd.com/read/38020322/awareness-and-perceptions-of-university-nursing-students-in-samoa-towards-childhood-hearing-impairment-and-hearing-healthcare-a-cross-sectional-study
#36
JOURNAL ARTICLE
Annette Kaspar, Ma'atasesa Samuelu-Matthes, Carlie Driscoll, Sione Pifeleti
INTRODUCTION: Pacific Islands have among the highest prevalence of pediatric hearing impairment in the world. Given the limited availability of ear and hearing specialists in the Pacific region, the broader health professional community plays a vital role in the prevention of avoidable pediatric hearing impairment. Nurses emerge as one of the ideal candidates for task-sharing in the administration of ear and hearing care at the public and primary healthcare levels. OBJECTIVES: The aim of this study is to evaluate the awareness and perceptions of university nursing students in Samoa to pediatric hearing impairment and hearing healthcare...
2023: SAGE Open Nursing
https://read.qxmd.com/read/38010580/noise-induced-hearing-threshold-shift-correlated-with-body-weight-and-external-ear-amplification-in-chinchilla-a-preliminary-analysis
#37
JOURNAL ARTICLE
Sarah K Grinn, Monica Trevino, Edward Lobarinas
BACKGROUND: External-ear amplification (EEA) has been shown to vary from 5-19 dB-A in large datasets of pediatric, adolescent, and adult human participants. However, variable EEA is an overlooked characteristic that likely plays a role in individual noise-induced hearing loss (NIHL) susceptibility. A noise exposure varying 5-19 dB-A translates to high-EEA individuals theoretically experiencing 3-4 times greater NIHL risk than low-EEA individuals. OBJECTIVE: The purpose of this preliminary analysis was to test the hypothesis that higher EEA is correlated with increased noise-induced threshold shift susceptibility...
November 27, 2023: Journal of the Association for Research in Otolaryngology: JARO
https://read.qxmd.com/read/38001143/mouse-models-of-pediatric-high-grade-gliomas-with-mycn-amplification-reveal-intratumoral-heterogeneity-and-lineage-signatures
#38
JOURNAL ARTICLE
Melanie Schoof, Shweta Godbole, Thomas K Albert, Matthias Dottermusch, Carolin Walter, Annika Ballast, Nan Qin, Marlena Baca Olivera, Carolin Göbel, Sina Neyazi, Dörthe Holdhof, Catena Kresbach, Levke-Sophie Peter, Gefion Dorothea Epplen, Vanessa Thaden, Michael Spohn, Mirjam Blattner-Johnson, Franziska Modemann, Martin Mynarek, Stefan Rutkowski, Martin Sill, Julian Varghese, Ann-Kristin Afflerbach, Alicia Eckhardt, Daniel Münter, Archana Verma, Nina Struve, David T W Jones, Marc Remke, Julia E Neumann, Kornelius Kerl, Ulrich Schüller
Pediatric high-grade gliomas of the subclass MYCN (HGG-MYCN) are highly aggressive tumors frequently carrying MYCN amplifications, TP53 mutations, or both alterations. Due to their rarity, such tumors have only recently been identified as a distinct entity, and biological as well as clinical characteristics have not been addressed specifically. To gain insights into tumorigenesis and molecular profiles of these tumors, and to ultimately suggest alternative treatment options, we generated a genetically engineered mouse model by breeding hGFAP-cre::Trp53Fl/Fl ::lsl-MYCN mice...
November 24, 2023: Nature Communications
https://read.qxmd.com/read/37993871/clinical-and-molecular-characteristics-of-methicillin-resistant-staphylococcus-aureus-in-bone-and-joint-infection-among-children
#39
JOURNAL ARTICLE
Pan Fu, Yaxier Nijiati, Tingting Li, Xia Wu, Zixuan Wang, Jinlan Zhou, Chuanqing Wang, Bo Ning
OBJECTIVE: To investigate the characteristics of Methicillin-Resistant Staphylococcus aureus (MRSA) in bone and joint infection (BJI) among children. METHODS: A total of 338 patients diagnosed with BJI from 2013 to 2022 in Children's Hospital of Fudan University were enrolled. Demographic information, microbiology culture results and laboratory findings, including white blood counts (WBC), C-reactive protein (CRP), procalcitonin (PCT), interleukin-6 (IL-6), and erythrocyte sedimentation rate (ESR) were collected and analyzed...
November 22, 2023: Annals of Clinical Microbiology and Antimicrobials
https://read.qxmd.com/read/37988664/germline-prkaca-amplification-associated-primary-pigmented-nodular-adrenocortical-disease-a-case-report-and-literature-review
#40
REVIEW
Wang-Rong Yang, Xing-Huan Liang, Ying-Fen Qin, Hai-Yan Yang, Shu-Zhan He, Zhen-Xing Huang, Yu-Ping Liu, Zuo-Jie Luo
Primary pigmented nodular adrenocortical disease (PPNAD) is a rare adrenocorticotropin hormone (ACTH)-independent Cushing's syndrome (CS). Pediatric patients with PPNAD typically have unusual skin lesions and slow growth with unknown causes. We present a case of a female Chinese patient with PPNAD caused by the germline PRKACA gene copy number gain of chromosome 19. The patient initially presented with kidney stones, short stature, and obesity. After further testing, it was discovered that the patient had diabetes, mild hypertension, low bone mass, a low ACTH level, and hypercortisolemia, and neither the low-dose or high-dose dexamethasone suppression test was able to inhibit hematuric cortisol, which paradoxically increased...
November 17, 2023: Archives of Endocrinology and Metabolism
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