keyword
https://read.qxmd.com/read/37734130/de-novo-variants-in-rab11b-cause-various-degrees-of-global-developmental-delay-and-intellectual-disability-in-children
#1
JOURNAL ARTICLE
Natalie Ahmad, Walid Fazeli, Sophia Schließke, Gaetan Lesca, Zeynep Gokce-Samar, Kedous Y Mekbib, Sheng Chih Jin, Jennifer Burton, George Hoganson, Andrea Petersen, Sara Gracie, Leslie Granger, Enrika Bartels, Henry Oppermann, Adam Kundishora, Marianne Till, Clara Milleret-Pignot, Shane Dangerfield, David Viskochil, Katherine J Anderson, Timothy Blake Palculict, Rhonda E Schnur, Ingrid M Wentzensen, George E Tiller, Kristopher T Kahle, Wolfram S Kunz, Sebastian Burkart, Matias Simons, Heinrich Sticht, Rami Abou Jamra, Sonja Neuser
BACKGROUND: RAB11B was described previously once with a severe form of intellectual disability. We aim at validation and delineation of the role of RAB11B in neurodevelopmental disorders. METHODS: We present seven novel individuals with disease-associated variants in RAB11B when compared with the six cases described in the literature. We performed a cross-sectional analysis to identify the clinical spectrum and the core phenotype. Additionally, structural effects of the variants were assessed by molecular modeling...
August 24, 2023: Pediatric Neurology
https://read.qxmd.com/read/37734040/the-ambiguity-of-names-and-landmarks-in-radiographs-of-the-pediatric-pelvis-variations-and-a-historical-perspective
#2
JOURNAL ARTICLE
Henrik Hedelin, Per Larnert, Tero Laine, Mikael Sansone, Hanna Hebelka
For over a century, the plain radiograph has been used to measure and predict the development of pediatric hip conditions. Classic measurements, such as the acetabular index, the center-edge angle, and the migration percentage, have stood the test of time and remain the default tools for any pediatric orthopaedic surgeons. However, in contemporary research, the terminology regarding these measurements has become markedly inconsistent. A substantial number of synonyms, acronyms, and similar, but not identical, terms are used to label measurements...
September 1, 2023: Journal of the American Academy of Orthopaedic Surgeons. Global Research & Reviews
https://read.qxmd.com/read/37733905/public-insurance-and-single-guardian-households-are-associated-with-diagnostic-delay-in-slipped-capital-femoral-epiphysis
#3
JOURNAL ARTICLE
Lacey M Smith, Yuchiao Chang, Candace H Feldman, Leah M Santacroce, Madison Earle, Jeffrey N Katz, Eduardo N Novais
BACKGROUND: Extensive literature documents the adverse sequelae of delayed diagnosis of slipped capital femoral epiphysis (SCFE), including worsening deformity and surgical complications. Less is known about predictors of delayed diagnosis of SCFE, particularly the effects of social determinants of health. The purpose of this study was to evaluate the impact of insurance type, family structure, and neighborhood-level socioeconomic vulnerability on the delay of SCFE diagnosis. METHODS: We reviewed medical records of patients who underwent surgical fixation for stable SCFE at a tertiary pediatric hospital from 2002 to 2021...
September 21, 2023: Journal of Bone and Joint Surgery. American Volume
https://read.qxmd.com/read/37733902/ear-and-nose-foreign-body-removal-in-pediatric-patients
#4
JOURNAL ARTICLE
(no author information available yet)
No abstract text is available yet for this article.
January 2023: Advanced Emergency Nursing Journal
https://read.qxmd.com/read/37733441/population-level-single-cell-genomics-reveals-conserved-gene-programs-in-systemic-juvenile-idiopathic-arthritis
#5
JOURNAL ARTICLE
Emely L Verweyen, Kairavee Thakkar, Sanjeev Dhakal, Elizabeth J Baker, Kashish Chetal, Daniel Schnell, Scott W Canna, Alexei A Grom, Nathan Salomonis, Grant S Schulert
Systemic autoimmune and autoinflammatory diseases are characterized by genetic and cellular heterogeneity. While current single-cell genomics methods provide insights into known disease subtypes, these analysis methods do not readily reveal novel cell-type perturbation programs shared amongst distinct patient subsets. Here, we performed single-cell RNA-Seq of PBMCs of systemic juvenile idiopathic arthritis (SJIA) patients with diverse clinical manifestations, including macrophage activation syndrome (MAS) and lung disease (LD)...
September 21, 2023: Journal of Clinical Investigation
https://read.qxmd.com/read/37733350/validation-of-the-waterloo-differential-visual-acuity-test-watdat-and-comparison-with-existing-pediatric-tests-of-visual-acuity
#6
JOURNAL ARTICLE
Victor Opoku-Yamoah, Lisa W Christian, Elizabeth L Irving, Deborah Jones, Daphne McCulloch, Kalpana Rose, Susan J Leat
PURPOSE: The new Waterloo Differential Acuity Test (WatDAT) is designed to allow recognition visual acuity (VA) measurement in children before they can typically undertake matching tests. The study purpose was to validate WatDAT in adults with normal and reduced VA. METHODS: Eighty adults (18 to <40 years of age) participated (32 normal VA, 12 reduced VA, and 36 simulated reduced VA). Monocular VA was measured on two occasions in random order for WatDAT (versions with 3 and 5 distractors for Faces and Patti Pics house among circles), Lea Symbols, Kay Pictures and Patti Pics matching tests, Teller Acuity Cards, Cardiff Acuity Test, and Early Treatment Diabetic Retinopathy Study (ETDRS) letter chart...
September 1, 2023: Translational Vision Science & Technology
https://read.qxmd.com/read/37733329/10-patient-trial-remarkable-responses-in-pediatric-cancers
#7
JOURNAL ARTICLE
Elaine R Mardis
A clinical trial of Nivolumab in 10 pediatric cancer patients with high tumor mutational burden demonstrated complete responses in 50% of patients. This result recapitulates multiple clinical trial results in high mutation burden adult cancers and may redefine best practice in the setting of germline DNA mismatch repair-based susceptibility.
September 21, 2023: Clinical Cancer Research
https://read.qxmd.com/read/37733309/dabrafenib-plus-trametinib-in-pediatric-glioma-with-braf-v600-mutations
#8
JOURNAL ARTICLE
Eric Bouffet, Jordan R Hansford, Maria Luisa Garrè, Junichi Hara, Ashley Plant-Fox, Isabelle Aerts, Franco Locatelli, Jasper van der Lugt, Ludmila Papusha, Felix Sahm, Uri Tabori, Kenneth J Cohen, Roger J Packer, Olaf Witt, Larissa Sandalic, Ana Bento Pereira da Silva, Mark Russo, Darren R Hargrave
BACKGROUND: Detection of the BRAF V600E mutation in pediatric low-grade glioma has been associated with a lower response to standard chemotherapy. In previous trials, dabrafenib (both as monotherapy and in combination with trametinib) has shown efficacy in recurrent pediatric low-grade glioma with BRAF V600 mutations, findings that warrant further evaluation of this combination as first-line therapy. METHODS: In this phase 2 trial, patients with pediatric low-grade glioma with BRAF V600 mutations who were scheduled to receive first-line therapy were randomly assigned in a 2:1 ratio to receive dabrafenib plus trametinib or standard chemotherapy (carboplatin plus vincristine)...
September 21, 2023: New England Journal of Medicine
https://read.qxmd.com/read/37733272/glioma-arising-in-the-setting-of-mismatch-repair-deficiency-rare-or-are-we-missing-it
#9
JOURNAL ARTICLE
Aditi Goyal, Shilpa Rao, Karthik S Rishi, Veena Ramaswamy, Nishanth Sadashiva, Vani Santosh
Germline mutations in mismatch repair (MMR) genes (MLH1, MSH2, MSH6, PMS2) can be mono-allelic or biallelic, resulting in a Lynch syndrome (LS) or constitutional mismatch repair deficiency (CMMRD) syndrome respectively. Glioma arising in the setting of MMR deficiency is uncommon. We describe two pediatric patients with high-grade glioma (HGG) and associated MMR protein deficiency. On histomorphology both cases showed HGG with astrocytic morphology and prominent multinucleated tumor cells. On immunohistochemistry, the first case was negative for IDH1 p...
September 21, 2023: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://read.qxmd.com/read/37733254/is-the-pediatric-sleep-questionnaire-sensitive-for-sleep-disordered-breathing-in-children-with-complex-chronic-disease
#10
JOURNAL ARTICLE
Mine Kalyoncu, Nurtuğ Namlı, Cansu Yilmaz Yegit, Muruvvet Yanaz, Aynur Gulieva, Almala Pınar Ergenekon, Merve Selçuk, Emine Atağ, Nilay Baş İkizoğlu, Meltem Sabancı, Kadir Lale, Yasemin Gokdemir, Refika Ersu, Fazilet Karakoç, Bulent Karadag, Ela Erdem Eralp
PURPOSE: Sleep-disordered breathing (SDB) is a disease defined by breathing or breathing irregularities while asleep. The current study examines the association between results of polysomnography (PSG) and the Pediatric Sleep Questionnaire (PSQ), and the specificity and sensitivity of the PSQ for obstructive sleep apnea (OSA) in patients with chronic illnesses. METHODS: Demographic and clinical attributes, in addition to PSQ and PSG outcomes were examined retrospectively among patients who underwent polysomnography (PSG) at our facility between 2012 and 2021...
September 21, 2023: Sleep & Breathing
https://read.qxmd.com/read/37733214/can-growing-patients-with-end-stage-tmj-pathology-be-successfully-treated-with-alloplastic-temporomandibular-joint-reconstruction-a-systematic-review
#11
REVIEW
Yasir Rehman Khattak, Nabila Ghaffar, Muhammad Assad Gulzar, Sundas Rahim, Faisal Rafique, Zainab Jan, Shaheen Iqbal, Iftikhar Ahmad
INTRODUCTION: The use of alloplastic total temporomandibular joint reconstruction (TMJR) in growing patients is controversial, mainly due to immature elements of the craniomaxillofacial skeleton. The aim of this systematic review was to evaluate the use of alloplastic TMJR in growing patients, focusing on the patient's clinical presentation, surgical and medical history and efficacy of alloplastic TMJR implantation. MATERIALS AND METHODS: The literature search strategy was based on the Population, Intervention, Comparator, Outcomes and Study type (PICOS) framework...
September 21, 2023: Oral and Maxillofacial Surgery
https://read.qxmd.com/read/37733171/pediatric-acute-myeloid-leukemia-and-hyperleukocytosis-with-wbc-count-greater-than-50%C3%A2-%C3%A3-%C3%A2-10-9-l
#12
JOURNAL ARTICLE
Aoli Zhang, Lipeng Liu, Suyu Zong, Lixian Chang, Xiaojuan Chen, Wenyu Yang, Ye Guo, Li Zhang, Yao Zou, Yumei Chen, Yingchi Zhang, Min Ruan, Xiaofan Zhu
BACKGROUND: Acute myeloid leukemia (AML) and hyperleukocytosis have an unfavorable prognosis, but the impact of hyperleukocytosis on the prognosis of pediatric AML remains uncertain. We investigated the clinical characteristics and prognosis of pediatric AML with hyperleukocytosis, defined as WBC ≥ 50 × 109 /L. METHODS: A total of 132 patients with newly diagnosed childhood AML with hyperleukocytosis were consecutively enrolled at our center from September 2009 to August 2021 to investigate prognostic factors and clinical outcomes...
September 21, 2023: International Journal of Hematology
https://read.qxmd.com/read/37733160/assessment-of-comorbid-symptoms-in-pediatric-autonomic-dysfunction
#13
REVIEW
Sally E Tarbell, Erin L Olufs, Philip R Fischer, Gisela Chelimsky, Mohammed T Numan, Marvin Medow, Hasan Abdallah, Shelley Ahrens, Jeffrey R Boris, Ian J Butler, Thomas C Chelimsky, Craig Coleby, John E Fortunato, Raewyn Gavin, Janice Gilden, Renato Gonik, Kelsey Klaas, Lauren Marsillio, Erin Marriott, Laura A Pace, Paul Pianosi, Pippa Simpson, Julian Stewart, Natalie Van Waning, Debra E Weese-Mayer
PURPOSE: Pediatric patients with autonomic dysfunction and orthostatic intolerance (OI) often present with co-existing symptoms and signs that might or might not directly relate to the autonomic nervous system. Our objective was to identify validated screening instruments to characterize these comorbidities and their impact on youth functioning. METHODS: The Pediatric Assembly of the American Autonomic Society reviewed the current state of practice for identifying symptom comorbidities in youth with OI...
September 21, 2023: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://read.qxmd.com/read/37733117/solid-pseudopapillary-neoplasms-of-the-pancreas-in-childhood-and-adolescence-an-analysis-of-the-german-registry-for-rare-pediatric-tumors-step
#14
JOURNAL ARTICLE
Christian Jentzsch, Jörg Fuchs, Abbas Agaimy, Christian Vokuhl, Gabriele Escherich, Claudia Blattmann, Steven W Warmann, Andreas Schmidt, Jürgen Schäfer, Ines B Brecht, Dominik T Schneider, Michael Abele
UNLABELLED: Solid pseudopapillary neoplasms (SPNs) are the most common entity among pediatric pancreatic tumors. Still, these are rare tumors with an annual incidence of 0.1-0.2/1,000,000, and little is known about their optimal treatment. This analysis aimed to increase knowledge about the occurrence and treatment strategies of SPN in childhood. Data regarding diagnostics, treatment, and outcome of children aged 0-18 years with SPN recorded in the German Registry for Rare Pediatric Tumors (STEP) were analyzed...
September 21, 2023: European Journal of Pediatrics
https://read.qxmd.com/read/37733115/standardized-treatment-and-diagnostic-approach-to-reduce-disease-burden-in-the-early-postoperative-phase-in-children-with-congenital-heart-defects-standard-study-a-pilot-randomized-controlled-trial
#15
JOURNAL ARTICLE
Antonia Vogt, Sascha Meyer, Hans-Joachim Schäfers, Julius Johannes Weise, Stefan Wagenpfeil, Hashim Abdul-Khaliq, Martin Poryo
To explore the effect of a daily goal checklist on pediatric cardiac intensive care unit (PCICU) length of stay (LOS) after congenital heart surgery. This study is a prospective randomized single-center study. Group characteristics were as follows: STANDARD group: n = 30, 36.7% female, median age 0.9 years; control group: n = 33, 36.4% female, median age 1.1 years. Invasive ventilation time, STAT categories, mean vasoactive-inotropic score (VIS)24h , maximal (max.) VIS24h , mean VIS24-48h , max...
September 21, 2023: European Journal of Pediatrics
https://read.qxmd.com/read/37733114/effect-of-intravenous-immunoglobulin-on-the-outcome-of-children-with-septic-shock-in-a-picu-a-retrospective-cohort-study
#16
JOURNAL ARTICLE
Haixin Huang, Jian Chen, Hongxing Dang, Chengjun Liu, Junming Huo, Yue-Qiang Fu
UNLABELLED: The therapeutic efficacy of intravenous immuneglobulin (IVIG) on children with septic shock remains uncertain. Therefore, we endeavored to investigate the impact of administering intravenous immunoglobulin (IVIG) in the pediatric intensive care unit (PICU) on patient with septic shock. We retrospectively analyzed the data of children admitted to the PICU due to septic shock from January 2017 to December 2021 in a tertiary pediatric hospital. The main outcome was in-hospital mortality...
September 21, 2023: European Journal of Pediatrics
https://read.qxmd.com/read/37733098/genetics-of-kidney-disorders-in-phelan-mcdermid-syndrome-evidence-from-357-registry-participants
#17
JOURNAL ARTICLE
Megan D McCoy, Sara M Sarasua, Jane M DeLuca, Stephanie Davis, R Curtis Rogers, Katy Phelan, Luigi Boccuto
BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare genetic disorder caused by SHANK3 pathogenic variants or chromosomal rearrangements affecting the chromosome 22q13 region. Previous research found that kidney disorders, primarily congenital anomalies of the kidney and urinary tract, are common in people with PMS, yet research into candidate genes has been hampered by small study sizes and lack of attention to these problems. METHODS: We used a cohort of 357 people from the Phelan-McDermid Syndrome Foundation International Registry to investigate the prevalence of kidney disorders in PMS using a cross-sectional design and to identify 22q13 genes contributing to these disorders...
September 21, 2023: Pediatric Nephrology
https://read.qxmd.com/read/37733097/nutcracker-syndrome-in-pediatrics-initial-findings-and-long-term-follow-up-results
#18
JOURNAL ARTICLE
Iryna Akdemir, Ece Mekik Akar, Songül Yılmaz, Nilgün Çakar, Suat Fitöz, Zeynep Birsin Özçakar
BACKGROUND: Nutcracker syndrome (NCS) describes a set of symptoms and signs resulting from compression of the left renal vein (LRV). There is a lack of knowledge about its natural course, diagnosis, and management, especially in children. Herein, we present our single-center experience with a large number of patients who have long-term follow-up results. METHODS: All patients with NCS diagnosed between January 2011 and March 2021 were included and their data were obtained retrospectively...
September 21, 2023: Pediatric Nephrology
https://read.qxmd.com/read/37733096/the-effect-of-dehydration-hyperchloremia-and-volume-of-fluid-resuscitation-on-acute-kidney-injury-in-children-admitted-to-hospital-with-diabetic-ketoacidosis
#19
JOURNAL ARTICLE
Rebecca E Hay, Simon J Parsons, Andrew W Wade
BACKGROUND: Acute kidney injury (AKI) is a recognized comorbidity in pediatric diabetic ketoacidosis (DKA), although the exact etiology is unclear. The unique physiology of DKA makes dehydration assessments challenging, and these patients potentially receive excessive amounts of intravenous fluids (IVF). We hypothesized that dehydration is over-estimated in pediatric DKA, leading to over-administration of IVF and hyperchloremia that worsens AKI. METHODS: Retrospective cohort of all DKA inpatients at a tertiary pediatric hospital from 2014 to 2019...
September 21, 2023: Pediatric Nephrology
https://read.qxmd.com/read/37733095/complement-inhibitors-in-pediatric-kidney-diseases-new-therapeutic-opportunities
#20
JOURNAL ARTICLE
Luca Antonucci, Joshua M Thurman, Marina Vivarelli
Historically, the complement system (classical, lectin, alternative, and terminal pathways) is known to play a crucial role in the etiopathogenesis of many kidney diseases. Direct or indirect activation in these settings is revealed by consumption of complement proteins at the serum level and kidney tissue deposition seen by immunofluorescence and electron microscopy. The advent of eculizumab has shown that complement inhibitors may improve the natural history of certain kidney diseases. Since then, the number of available therapeutic molecules and experimental studies on complement inhibition has increased exponentially...
September 21, 2023: Pediatric Nephrology
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