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JOURNAL ARTICLE
Ayako Chida-Nagai, Hiroyuki Akagawa, Saori Sawai, Yue-Jiao Ma, Satoshi Yakuwa, Jun Muneuchi, Kazushi Yasuda, Hirokuni Yamazawa, Toshiyuki Yamamoto, Emi Takakuwa, Utano Tomaru, Yoshiyuki Furutani, Tatsuya Kato, Gen Harada, Kei Inai, Toshio Nakanishi, Atsushi Manabe, Atsuhito Takeda, Zhi-Cheng Jing
BACKGROUND: Peripheral pulmonary stenosis (PPS) is a condition characterized by the narrowing of the pulmonary arteries, which impairs blood flow to the lung. The mechanisms underlying PPS pathogenesis remain unclear. Thus, the aim of this study was to investigate the genetic background of patients with severe PPS to elucidate the pathogenesis of this condition. METHODS AND RESULTS: We performed genetic testing and functional analyses on a pediatric patient with PPS and Williams syndrome (WS), followed by genetic testing on 12 patients with WS and mild-to-severe PPS, 50 patients with WS but not PPS, and 21 patients with severe PPS but not WS...
April 19, 2024: Journal of the American Heart Association
#22
JOURNAL ARTICLE
Jianlin Cai, Ying Liu, Cheng Qian, Yixuan Gao, Sheng Zhao, Yingwei Ma, Xingyu Xiang, Jing Xu, Feng Zhang, Maozhong Li, Hongmei Xu, Qi Li, Chongyang Li, Yitong Lin, Baicheng Xia, Aili Cui, Yan Zhang, Zhen Zhu, Naiying Mao
Human adenovirus (HAdV) is a significant viral pathogen causing severe acute respiratory infections (SARIs) in children. To improve the understanding of type distribution and viral genetic characterization of HAdV in severe cases, this study enrolled 3404 pediatric SARI cases from eight provinces of China spanning 2017-2021, resulting in the acquisition of 112 HAdV strains. HAdV-type identification, based on three target genes (penton base, hexon, and fiber), confirmed the diversity of HAdV types in SARI cases...
April 2024: Journal of Medical Virology
#23
JOURNAL ARTICLE
May El Hachem, Andrea Diociaiuti, Giovanna Zambruno, Tonia Samela, Francesca Ferretti, Claudia Carnevale, Renata Linertová, Christine Bodemer, Dédée F Murrell, Damiano Abeni
BACKGROUND: Inherited epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of skin fragility disorders characterized by blister formation following minor trauma. Four major types are distinguished based on the level of cleavage within the skin. Most EB forms present severely disabling cutaneous and systemic signs and symptoms. Management relies on daily time-consuming and distressing topical medications, and symptomatic treatment of systemic findings. Disease manifestations, symptoms, and daily care strongly affect patient and caregiver quality of life (QoL)...
April 19, 2024: Italian Journal of Pediatrics
#24
JOURNAL ARTICLE
Alexandra E Kovach, Maximilian Wengyn, My H Vu, Andrew Doan, Gordana Raca, Deepa Bhojwani
BACKGROUND: Compared to other ethnicities, Hispanics/Latinos (H/L) have a high incidence of acute lymphoblastic leukemia (ALL), enrichment of unfavorable ALL genetic subtypes, and worse outcomes, even after correcting for socioeconomic factors. We previously demonstrated increased incidence of the high-risk genetic drivers IKZF1 deletion and IGH::CRLF2 rearrangement in H/L compared to non-H/L children with B-ALL. Here in an expanded pediatric cohort, we sought to identify novel genetic drivers and secondary genetic alterations in B-ALL associated with H/L ethnicity...
April 18, 2024: Pediatric Blood & Cancer
#25
JOURNAL ARTICLE
Tomohiko Nakata, Jun Natsume, Hiroyuki Yamamoto, Yuji Ito, Takeshi Suzuki, Masahiro Kawaguchi, Anna Shiraki, Sumire Kumai, Fumi Sawamura, Ryosuke Suzui, Takamasa Mitsumatsu, Hajime Narita, Takeshi Tsuji, Tetsuo Kubota, Shinji Saitoh, Akihisa Okumura, Hiroyuki Kidokoro
BACKGROUND: Various factors contribute to the development of infection-related acute encephalopathy (AE) in children, such as infectious agents and chronic underlying disorders. We studied underlying disorders in children with AE to identify predisposing factors of AE. METHODS: We investigated underlying disorders or past histories in patients with two types of AE from the database in the Tokai area of Japan between 2009 and 2022: 204 patients with AE with reduced subcortical diffusion (AED) and 137 with clinically mild encephalopathy with a reversible splenial lesion (MERS)...
March 22, 2024: Pediatric Neurology
#26
JOURNAL ARTICLE
Santosh Wadile, Divya Kondgekar, Ashishkumar Moreshwar Banpurkar, Shahena Parveen Raeen, Komal Kulkarni, Snehal Kulkarni
Closure of the large ventricular septal defects (VSD) in infancy can lead to normalization of growth, but data are limited. Our study is done to assess the growth pattern in different age groups of children and lower birth weight babies after shunt closure. This is a prospective observational study that included infants with isolated large VSD operated in infancy. Anthropometric data were collected at baseline and at follow-up, and growth patterns were analyzed. 99 infants were included in the study. The mean age and weight at the time of surgery were 6...
April 18, 2024: Pediatric Cardiology
#27
JOURNAL ARTICLE
Joaquin Garcia-Solorio, Juan Carlos Núñez-Enriquez, Marco Jiménez-Olivares, Janet Flores-Lujano, Fernanda Flores-Espino, Carolina Molina-Garay, Alejandra Cervera, Diana Casique-Aguirre, José Gabriel Peñaloza-Gonzalez, Ma Del Rocío Baños-Lara, Ángel García-Soto, César Alejandro Galván-Díaz, Alberto Olaya-Vargas, Hilario Flores Aguilar, Minerva Mata-Rocha, Miguel Ángel Garrido-Hernández, Juan Carlos Solís-Poblano, Nuria Citlalli Luna-Silva, Lena Sarahi Cano-Cuapio, Pierre Mitchel Aristil-Chery, Fernando Herrera-Quezada, Karol Carrillo-Sanchez, Anallely Muñoz-Rivas, Luis Leonardo Flores-Lagunes, Elvia Cristina Mendoza-Caamal, Beatriz Eugenia Villegas-Torres, Vincent González-Osnaya, Elva Jiménez-Hernández, José Refugio Torres-Nava, Jorge Alfonso Martín-Trejo, María de Lourdes Gutiérrez-Rivera, Rosa Martha Espinosa-Elizondo, Laura Elizabeth Merino-Pasaye, María Luisa Pérez-Saldívar, Silvia Jiménez-Morales, Everardo Curiel-Quesada, Haydeé Rosas-Vargas, Juan Manuel Mejía-Arangure, Carmen Alaez-Verson
BACKGROUND: Recurrent genetic alterations contributing to leukemogenesis have been identified in pediatric B-cell Acute Lymphoblastic Leukemia (B-ALL), and some are useful for refining classification, prognosis, and treatment selection. IKZF1plus is a complex biomarker associated with a poor prognosis. It is characterized by IKZF1 deletion coexisting with PAX5 , CDKN2A/2B , or PAR1 region deletions. The mutational spectrum and clinical impact of these alterations have scarcely been explored in Mexican pediatric patients with B-ALL...
2024: Frontiers in Oncology
#28
Lu Wang, Haiquan Xu, Jianbo Shu, Dandan Yan, Dong Li, Chunquan Cai
BACKGROUND: The gamma-aminobutyric acid (GABA) variant causes developmental and epileptic encephalopathy 45 (DEE45), an autosomal dominant disorder that results in oculocortical visual impairment, reduced muscle tone, psychomotor retardation, and epilepsy. Analysis of the clinical features and genetics of DEE45 may be helpful in complementing genotype-phenotype studies. CASE PRESENTATION: We collected peripheral blood samples from the affected children and parents and extracted genomic DNA...
2024: Frontiers in Pediatrics
#29
JOURNAL ARTICLE
Chen Wang, Runxi Fu, Yunkun Wang, Jia Wei, Ying Yu, Liuhua Hu, Chenran Zhang
Medulloblastoma (MB), a prevalent pediatric central nervous system tumor, is influenced by microRNAs (miRNAs) that impact tumor initiation and progression. However, the specific involvement of miRNAs in MB tumorigenesis remains unclear. Using single-cell RNA sequencing, we identified ROR2 expression in normal human fetal cerebellum. Subsequent analyses, including immunofluorescence, quantitative real-time PCR (qRT-PCR), and Western blot, assessed ROR2 expression in MB tissues and cell lines. We investigated miR-124-3p and miR-194-5p and their regulatory role in ROR2 expression through the dual-luciferase reporter, qRT-PCR, and western blot assays...
March 19, 2024: Cancer Gene Therapy
#30
Yoav Glidai, Moe H Aung, Jane Edmond, Linda Lawrence, G Vike Vicente, Sylvia R Kodsi
Lamb-Shaffer syndrome (LSS) is a rare neurodevelopmental disorder, genetically diagnosed in fewer than 100 individuals worldwide. We present a case series of 6 pediatric patients with LSS and describe its ophthalmic manifestations. Strabismus was present in 5 patients, with exotropia being most common. All subjects had significant refractive errors; 5 had astigmatism of at least 2 D. All patients had optic nerve abnormalities, including pallor (4), hypoplasia (2), and anomalous appearance (1), with retinal nerve fiber layer thinning demonstrated in a single subject...
April 15, 2024: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
#31
JOURNAL ARTICLE
Helga Elidottir, Selma R Bjarnadottir, Olafur Baldursson, Brynja Jonsdottir
BACKGROUND: Cystic fibrosis (CF) is most common in populations of Northern European ancestry where the F508del variant predominates. In 2020, Iceland became a member of the European Cystic Fibrosis Society Patient Registry, and we launched an epidemiological study of CF in Iceland. The study aimed to determine the prevalence and the genetic variants present in the country. Furthermore, we aimed to describe the previous and the current situation regarding lung function, infections, complications, treatment, and follow-up to understand the strengths and weaknesses of CF care in Iceland...
April 17, 2024: Pediatric Pulmonology
#32
Radha Nangliya, Anam R Sasun, Snehal Samal
This case report provides insights into the physiotherapy management of a 12-year-old male with Duchenne muscular dystrophy (DMD). DMD is a devastating genetic disorder characterized by progressive muscle degeneration and weakness. Skeletal muscle degeneration is induced by a genetic disorder. It is a common X-linked condition that causes hypertrophy of the calves and proximal muscular weakness in children. It frequently results in early mortality, wheelchair confinement, and delays in motor development...
March 2024: Curēus
#33
Campbell Chukwuebuka Francis, Kohei Kanaya, Kohei Nagamine, Tetsuya Goto, Tetsuyoshi Horiuchi, Samuel Chukwunonyerem Ohaegbulam
BACKGROUND: Pilocytic astrocytoma (PA) is a benign glial tumor predominately seen in pediatrics and early adolescence with associated overall good outcomes. Very few cases of elderly PA have been reported in the literature, and they are known to display unique anatomic, histologic, and genetic peculiarities distinct from pediatric disease. We report a rare case of vermian PA in an octogenarian with recurrent spontaneous intratumoral hemorrhage as a presenting symptom. Furthermore, a review of the literature on the peculiarities of PA in the elderly will be discussed...
2024: Surgical Neurology International
#34
Deepali Bhalla, Sunil Sati, Donald Basel, Vijender Karody
Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive disorder that is characterized by bowing of long bones, dysautonomia, temperature dysregulation, swallowing and feeding difficulties, and frequent respiratory infections. Respiratory distress and hyperthermic events are the leading causes of early neonatal death, and most patients are not expected to survive past infancy. Here, we report on the survival of a 5-year-old male with SWS, discussing his case presentation, providing a brief clinical course, and discussing the outcome...
2024: Frontiers in Pediatrics
#35
Takuya Hiraide, Taiju Hayashi, Yusuke Ito, Rei Urushibata, Hiroshi Uchida, Ryoichi Kitagata, Hidetoshi Ishigaki, Tsutomu Ogata, Hirotomo Saitsu, Tokiko Fukuda
BACKGROUND: Galloway-Mowat syndrome (GAMOS) is a rare genetic disease characterized by early-onset nephrotic syndrome and microcephaly with central nervous system abnormalities. Pathogenic variants in genes encoding kinase, endopeptidase, and other proteins of small size (KEOPS) complex subunits cause GAMOS. The subunit TPRKB (TP53RK binding protein) has been reported in only two patients with GAMOS with homozygous missense variants. CLINICAL REPORT: Herein, we described a three-year-old male with GAMOS...
2024: Frontiers in Pediatrics
#36
Elisabetta Magnaterra, Mattia Giovannini, Cesare Filippeschi, Fausto Andrea Pedaci, Greta Tronconi, Michele Callea, Silvia Ricci, Francesca Mori, Maria Parpagnoli, Teresa Oranges
Trichothiodystrophy (TTD) is a rare congenital disorder caused by genetic mutations, leading to hair and skin abnormalities. We report successful treatment of a TTD case using dupilumab, a monoclonal antibody targeting IL-4Rα. The patient, a 7-year-old boy, exhibited significant improvement in skin and hair conditions, suggesting the potential of dupilumab as a therapeutic option for TTD. Further research is needed to elucidate its mechanism and efficacy in TTD treatment.
April 16, 2024: Pediatric Dermatology
#37
JOURNAL ARTICLE
Karan K Smith, Jesse D Moreira, Callum R Wilson, June O Padera, Ashlee N Lamason, Liying Xue, Deepa M Gopal, David B Flynn, Jessica L Fetterman
Mitochondrial DNA (mtDNA) variants cause a range of diseases from severe pediatric syndromes to aging-related conditions. The percentage of mtDNA copies carrying a pathogenic variant, variant allele frequency (VAF), must reach a threshold before a biochemical defect occurs, termed the biochemical threshold. Whether the often-cited biochemical threshold of >60% VAF is similar across mtDNA variants and cell types is unclear. In our systematic review, we sought to identify the biochemical threshold of mtDNA variants in relation to VAF by human tissue/cell type...
April 16, 2024: Genome Research
#38
JOURNAL ARTICLE
Keerthika Murali, Anjan Kumar Dhua
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare, congenital functional intestinal obstruction, characterised by megacystis (bladder distention in the absence of mechanical obstruction), microcolon and intestinal hypoperistalsis (dysmotility).We are reporting a case of a female child with normal antenatal course who presented with recurrent episodes of abdominal distension since the second day of life and underwent negative exploratory laparotomy on multiple occasions. She also had urinary retention with a grossly distended bladder, requiring drainage by clean intermittent catheterisation...
April 16, 2024: BMJ Case Reports
#39
JOURNAL ARTICLE
NDUFV1-Related Mitochondrial Complex-1 Disorders: A Retrospective Case Series and Literature Review.
Aakash Mahesan, Puneet Kumar Choudhary, Gautam Kamila, Aradhana Rohil, Ankit Kumar Meena, Atin Kumar, Prashant Jauhari, Biswaroop Chakrabarty, Sheffali Gulati
BACKGROUND: Pathogenic variants in the NDUFV1 gene disrupt mitochondrial complex I, leading to neuroregression with leukoencephalopathy and basal ganglia involvement on neuroimaging. This study aims to provide a concise review on NDUFV1-related disorders while adding the largest cohort from a single center to the existing literature. METHODS: We retrospectively collected genetically proven cases of NDUFV1 pathogenic variants from our center over the last decade and explored reported instances in existing literature...
March 6, 2024: Pediatric Neurology
#40
JOURNAL ARTICLE
Ari D Kappel, Abdullah H Feroze, Erickson Torio, Madhav Sukumaran, Rose Du
Moyamoya disease (MMD) is characterized by idiopathic, progressive stenosis of the circle of Willis and the terminal portion of the internal carotid arteries with the development of prominent small collateral vessels and a characteristic moyamoya or puff-of-smoke radiographic appearance. The incidence and prevalence of MMD varies by region, age, and sex, with higher rates in Asian and East Asian populations compared to North American or European populations. There is a bimodal distribution of patients diagnosed with MMD...
April 19, 2024: Journal of Neurosurgery
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