keyword
https://read.qxmd.com/read/38531292/synchronous-nasal-rhinosporidiosis-and-inverted-papilloma-in-a-paediatric-patient-in-dodoma-tanzania-case-report
#1
Zephania Saitabau Abraham, Francis Zerd, Benard John Mnguruta, Chrispin Dickson Mgute, Aveline Aloyce Kahinga
INTRODUCTION: Nasal rhinosporidiosis refers to a rare chronic granulomatous disease caused by Rhinosporidium seeberi. It affects the mucous membrane of sites such as nasopharynx, conjunctiva and palate. Inverted papillomas are relatively rare and are benign epithelial tumors of the nasal cavity that are locally aggressive, exhibit recurrence tendency and malignant transformation. Both entities are very rare in our setting and this is perhaps the first documented case in Tanzania. CASE PRESENTATION: The patient was a 7-year old boy with a 1-year history of left-sided nasal obstruction and intermittent epistaxis for 6 months...
March 23, 2024: International Journal of Surgery Case Reports
https://read.qxmd.com/read/38529810/medulloblastoma-in-a-child-with-osteoma-cutis%C3%A2-a-rare-association-due-to-loss-of-gnas-expression
#2
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/38529773/increased-risk-of-complications-in-lower-versus-upper-limb-peripheral-intravenous-cannulation-in-children-with-severe-neurological-impairment
#3
JOURNAL ARTICLE
Eliza Kluckow, Sajini Perera, Isaac Clifford, Daniel Wilks, Monica S Cooper
BACKGROUND: Obtaining peripheral intravenous catheter (PIVC) access in children with severe neurological impairment (SNI) is often challenging and commonly associated with complications, including dislodgement, phlebitis and extravasation. In severe cases, extravasation injury may lead to tissue necrosis, ulceration and long-term morbidity. The aim of this study was to determine the relative incidence of PIVC complications secondary to lower limb cannulation, compared to upper limb, in children with SNI...
March 2024: Child: Care, Health and Development
https://read.qxmd.com/read/38520815/vitamin-deficiencies-in-children-lessons-from-clinical-and-neuroimaging-findings
#4
JOURNAL ARTICLE
Gabrielle Dupuy, Charles-Joris Roux, Rémi Barrois, Apolline Imbard, Clément Pontoizeau, Marie Thérèse Dangles, Mélodie Aubart, Jean-Baptiste Arnoux, Diane Margoses, Anaïs Brassier, Clothilde Marbach, Claire-Marine Bérat, Eugénie Sarda, Cyril Gitiaux, Pascale de Lonlay, Nathalie Boddaert, Manuel Schiff, Isabelle Desguerre
BACKGROUND AND AIMS: Water-soluble vitamins play an essential coenzyme role in the nervous system. Acquired vitamin deficiencies are easily treatable, however, without treatment, they can lead to irreversible complications. This study aimed to provide clinical, laboratory parameters and neuroimaging data on vitamin deficiencies in an attempt to facilitate early diagnosis and prompt supplementation. METHODS: From July 1998 to July 2023, patients at Necker-Enfants-Malades Hospital presenting with acute neurological symptoms attributed to acquired vitamin deficiency were included...
February 26, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38518418/autoimmune-encephalitis-in-israeli-children-a-retrospective-nationwide-study
#5
JOURNAL ARTICLE
Nimrod Sachs, Efrat Zohar-Dayan, Bruria Ben Zeev, Tal Gilboa, Mohammad Kurd, Itay Tokatly Latzer, Hadas Meirson, Irit Krause, Yotam Dizitzer, Esther Ganelin Cohen
Immune-mediated or autoimmune encephalitis (AE) is a relatively new, rare and elusive form of encephalitis in children. We retrospectively collected seropositive children (0-18 years old) with well characterized antibodies through 3 reference laboratories in Israel. Clinical symptoms, MRI and EEG findings and treatment courses were described. A total of 16 patients were included in the study, with 10 females. Anti NMDA encephalitis was most common followed by anti HU and anti mGLuR1. Psychiatric symptoms, abnormal movements, seizures and behavioral changes were the most common presentation...
March 15, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38518417/botulinum-neurotoxin-type-a-responders-among-children-with-spastic-cerebral-palsy-pattern-specific-effects
#6
JOURNAL ARTICLE
E Papageorgiou, N Peeters, L Staut, G Molenaers, E Ortibus, A Van Campenhout, K Desloovere
AIM: To identify short-term effects of botulinum neurotoxin type A (BoNT) injections on gait and clinical impairments, in children with spastic cerebral palsy (CP), based on baseline gait pattern-specific subgroups. METHOD: Short-term effects of BoNT injections in the medial hamstrings and gastrocnemius were defined in a retrospective convenience sample of 117 children with CP (median age: 6 years 4 months; GMFCS I/II/III: 70/31/16; unilateral/bilateral: 56/61) who had received gait analyses before and 2 months post-BoNT...
March 1, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38515429/misdiagnosis-of-functional-neurological-symptom-disorders-in-paediatrics-narrative-review-and-relevant-case-report
#7
JOURNAL ARTICLE
Valentina Baglioni, Dario Esposito, Katerina Bernardi, Maria Novelli, Valerio Zaccaria, Serena Galosi, Francesco Pisani
Functional neurological symptom disorders (FNSD) pose a common challenge in clinical practice, particularly in pediatric cases where the clinical phenotypes can be intricate and easily confused with structural disturbances. The frequent coexistence of FNSDs with other medical disorders often results in misdiagnosis. In this review, we highlight the distinctions between FNSD and various psychiatric and neurological conditions. Contrary to the misconception that FNSD is a diagnosis of exclusion, we underscore its nature as a diagnosis of inclusion, contingent upon recognizing specific clinical features...
March 22, 2024: Clinical Child Psychology and Psychiatry
https://read.qxmd.com/read/38508660/healthcare-service-use-and-medical-outcomes-of-tracheostomy-dependent-children-a-nationwide-study
#8
JOURNAL ARTICLE
In Gyu Song, You Sun Kim, Min Sun Kim, Ji Weon Lee, Yoon-Min Cho, Youna Lim, Seong Keun Kwon, Dong In Suh, June Dong Park
BACKGROUND: Despite the rising trend of tracheostomies in children, there is a lack of comprehensive resources for families to navigate the challenges of living with a tracheostomy, emphasising the need for evidence-based support in understanding postoperative care and long-term adjustments. This study aimed to examine the pattern of using healthcare services and nationwide medical outcomes in children who underwent a tracheotomy before the age of 2 years. METHODS: This retrospective study used the National Health Insurance System database from 2008 to 2016 and included all children codified with tracheotomy procedure codes before their second birthday...
March 19, 2024: BMJ Paediatrics Open
https://read.qxmd.com/read/38508626/evidence-informed-and-consensus-based-statements-about-safety-of-physical-agent-modalities-practice-in-physiotherapy-and-rehabilitation-medicine-safe-pamp-a-national-delphi-of-healthcare-scientific-societies
#9
JOURNAL ARTICLE
Silvia Gianola, Silvia Bargeri, Leonardo Pellicciari, Simone Gambazza, Giacomo Rossettini, Anna Fulvio, Vincenzo Genovese, Matteo Benedini, Emanuele Proverbio, Simone Cecchetto, Greta Castellini, Andrea Turolla
OBJECTIVE: A shared consensus on the safety about physical agent modalities (PAMs) practice in physiotherapy and rehabilitation is lacking. We aimed to develop evidence-informed and consensus-based statements about the safety of PAMs. STUDY DESIGN AND SETTING: A RAND-modified Delphi Rounds' survey was used to reach a consensus. We established a steering committee of the Italian Association of Physiotherapy (Associazione Italiana di Fisioterapia) to identify areas and questions for developing statements about the safety of the most commonly used PAMs in physiotherapy and rehabilitation...
March 19, 2024: BMJ Open
https://read.qxmd.com/read/38506504/clinical-and-laboratory-biomarkers-as-predictors-of-severity-in-pediatric-inflammatory-multisystem-syndrome-temporally-associated-with-sars-cov-2-data-from-a-prospective-nationwide-surveillance-study-in-switzerland
#10
JOURNAL ARTICLE
Juliane Wurm, Anita Uka, Michael Buettcher, Lisa Kottanattu, Nina Schöbi, Johannes Trück, Reto Villiger, Nicole Ritz, Petra Zimmermann
BACKGROUND: PIMS-TS (pediatric inflammatory multisystem syndrome-temporally associated with SARS-CoV-2) is a rare but serious condition in children following SARS-CoV-2 infection, characterized by a range of clinical symptoms with varying severity. Understanding risk factors for severe PIMS-TS is crucial for appropriate and timely intervention. OBJECTIVE: To identify factors associated with increased PIMS-TS severity in children. METHODS: In this nationwide prospective observational study, epidemiological and clinical data was collected from children <18 years of age with suspected or confirmed PIMS-TS from all 29 pediatric hospitals in Switzerland...
March 20, 2024: Pediatric Infectious Disease Journal
https://read.qxmd.com/read/38506182/clinical-and-neuroimaging-phenotypes-of-autoimmune-glial-fibrillary-acidic-protein-astrocytopathy-a-systematic-review-and-meta-analysis
#11
REVIEW
Caroline Hagbohm, Russell Ouellette, Eoin P Flanagan, Dagur I Jonsson, Fredrik Piehl, Brenda Banwell, Ronny Wickström, Ellen Iacobaeus, Tobias Granberg, Benjamin V Ineichen
OBJECTIVE: This study was undertaken to provide a comprehensive review of neuroimaging characteristics and corresponding clinical phenotypes of autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A), a rare but severe neuroinflammatory disorder, to facilitate early diagnosis and appropriate treatment. METHODS: A PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analysis)-conforming systematic review and meta-analysis was performed on all available data from January 2016 to June 2023...
March 20, 2024: European Journal of Neurology
https://read.qxmd.com/read/38503423/evaluating-the-impact-of-movement-tracking-feedback-on-engagement-with-home-exercise-programmes-of-children-with-cerebral-palsy-using-a-new-therapy-app-a-protocol-for-a-mixed-methods-single-case-experimental-design-with-alternating-treatments
#12
JOURNAL ARTICLE
Marina Petrevska, F Virginia Wright, Ajmal Khan, Sarah Munce, Darcy Fehlings, Elaine Biddiss
INTRODUCTION: Children with cerebral palsy (CP) are prescribed home exercise programmes (HEPs) to increase the frequency of movement practice, yet adherence to HEPs can be low. This paper outlines the protocol for a single-case experimental design (SCED) with alternating treatments, using a new home therapy exercise application, Bootle Boot Camp (BBCamp), offered with and without movement tracking feedback. This study will explore the impact of feedback on engagement, movement quality, lower limb function and family experiences to help understand how technology-supported HEPs should be translated and the added value, if any, of movement tracking technology...
March 18, 2024: BMJ Open
https://read.qxmd.com/read/38503417/adjuvant-wilms-tumour-1-specific-dendritic-cell-immunotherapy-complementing-conventional-therapy-for-paediatric-patients-with-high-grade-glioma-and-diffuse-intrinsic-pontine-glioma-protocol-of-a-monocentric-phase-i-ii-clinical-trial-in-belgium
#13
JOURNAL ARTICLE
Toon Van Genechten, Maxime De Laere, Jolien Van den Bossche, Barbara Stein, Kim De Rycke, Caroline Deschepper, Katja Hazes, Renke Peeters, Marie-Madeleine Couttenye, Katrien Van De Walle, Ella Roelant, Sabine Maes, Stephanie Vanden Bossche, Sven Dekeyzer, Manon Huizing, Kim Caluwaert, Griet Nijs, Nathalie Cools, Joris Verlooy, Koen Norga, Stijn Verhulst, Sebastien Anguille, Zwi Berneman, Eva Lion
INTRODUCTION: Diffuse intrinsic pontine glioma (DIPG) and paediatric high-grade glioma (pHGG) are aggressive glial tumours, for which conventional treatment modalities fall short. Dendritic cell (DC)-based immunotherapy is being investigated as a promising and safe adjuvant therapy. The Wilms' tumour protein (WT1) is a potent target for this type of antigen-specific immunotherapy and is overexpressed in DIPG and pHGG. Based on this, we designed a non-randomised phase I/II trial, assessing the feasibility and safety of WT1 mRNA-loaded DC (WT1/DC) immunotherapy in combination with conventional treatment in pHGG and DIPG...
March 18, 2024: BMJ Open
https://read.qxmd.com/read/38497310/clinical-characteristics-of-patients-with-myelin-oligodendrocyte-glycoprotein-antibodies
#14
JOURNAL ARTICLE
Elisabeth Maillart, Kumaran Deiva, Romain Marignier
PURPOSE OF REVIEW: The clinical landscape associated to myelin oligodendrocyte glycoprotein antibodies (MOG-Ab) has undergone a remarkable transformation over the past two decades, primarily driven by advancements in antibody detection techniques that have enhanced both the specificity and sensitivity of assays, enabling the identification of novel clinical phenotypes. RECENT FINDINGS: Recent pivotal research publications, comprehensive reviews from established research groups, and most notably the first proposed international criteria for MOG-Ab associated disease (MOGAD) have substantially enriched our understanding of the clinical features associated with MOG-Ab...
March 19, 2024: Current Opinion in Neurology
https://read.qxmd.com/read/38496138/arthroscopic-transphyseal-acl-reconstruction-with-lateral-extraarticular-tenodesis-with-unusual-arthroscopic-meniscal-findings-in-a-case-of-an-adolescent-girl-previously-diagnosed-with-amniotic-band-syndrome
#15
Dhruva Angachekar, Abhay Narvekar, Shivam Patel, Shaswat Shetty
Amniotic band syndrome (ABS) constriction rings in the lower limb are common. Despite this, there is insufficient literature on anatomical abnormalities in the knee joints of children with ABS. There is an increasing incidence of paediatric anterior cruciate ligament (ACL) injuries recently. ACL reconstruction in this population has an extra dilemma of sparing the physis to prevent growth disturbances. Treating both these conditions simultaneously is a challenge that is rarely encountered. In our literature review, we found no case such as this...
February 2024: Curēus
https://read.qxmd.com/read/38495955/midline-non-ictal-rhythmic-waveforms-as-possible-electroencephalographic-biomarkers-of-smith-klingsmore-syndrome-in-children
#16
Valerio Simonelli, Anna Rita Ferrari, Roberta Battini, Paola Brovedani, Emanuele Bartolini
INTRODUCTION: Pathogenic variants of the MTOR gene result in the Smith-Kingsmore syndrome, whose phenotypical spectrum includes facial dysmorphisms and neurological features. Expressivity is variable, patients exhibit a combination of intellectual disability, macrocephaly and epilepsy. The diagnosis can be missed, failing to detect the causative pathogenic mutation in patients with somatic mosaicism or even skipping to analyze MTOR when the phenotype is not completely expressed. CASE STUDY: Herein, we report two children harboring the same MTOR recurring mutation (c...
2024: Clinical Neurophysiology Practice
https://read.qxmd.com/read/38492551/on-punctate-white-matter-lesions-in-preterm-infants-is-ultrasound-diagnosis-feasible
#17
JOURNAL ARTICLE
Philippe Quétin, Nicolas Leboucq, Charlotte Boyer, Françoise Crozier, Philippe Delachartre, Marilyne Grinand, Philippe Masson, Olivier Claris
OBJECTIVES: To observe hyperechoic nodular or punctate white matter lesions (HNPL) in a population of preterm infants using routine cranial ultrasound (cUS), to describe the characteristics of HNPL, and to compare them with punctate white matter lesions (PWML) detected in magnetic resonance imaging (MRI). DESIGN: Retrospective observational single-center cohort study. SETTING: Level 2B neonatal unit in France. PATIENTS: 307 infants born <33 weeks gestation undergoing routine cUS with a total of 961 cUS performed...
March 1, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38491729/clinical-features-and-outcomes-in-children-with-seronegative-autoimmune-encephalitis
#18
JOURNAL ARTICLE
Jihan Madani, Carmen Yea, Areej Mahjoub, Paula Brna, Kevin Jones, Giulia Longoni, Maryam Nabavi Nouri, Tamer Rizk, Wendy A Stewart, Colin Wilbur, E Ann Yeh
AIM: To characterize the presenting features and outcomes in children with seronegative autoimmune encephalitis, and to evaluate whether scores at nadir for the Modified Rankin Scale (mRS) and Clinical Assessment Scale for Autoimmune Encephalitis (CASE) or its paediatric-specific modification (ped-CASE) are predictive of outcomes. METHOD: This observational study included children younger than 18 years of age with seronegative autoimmune encephalitis. Demographics and clinical data were collected...
March 15, 2024: Developmental Medicine and Child Neurology
https://read.qxmd.com/read/38490823/adverse-events-following-immunisation-prospective-cohort-study-evaluating-australian-children-presenting-to-specialist-immunisation-clinics
#19
JOURNAL ARTICLE
Hannah Stubbs, Pamela Palasanthiran, Archana Koirala, Amelia Lee, Robert C Duguid, Deidre Brogan, Nicholas Wood, Rama Kandasamy
OBJECTIVE: Prior experience of an adverse event following immunisation is a known barrier to vaccination. Limited Australian data evaluating adverse event recurrence among children exists to inform clinical decisions. We aimed to assess adverse event following immunisation recurrence among children with prior adverse events and to evaluate if family history increased adverse event risk. METHODS: A prospective cohort study was conducted from March 3rd until August 18th, 2023...
March 14, 2024: Vaccine
https://read.qxmd.com/read/38484415/adolescents-with-rett-syndrome-at-critical-care-pathway-junctures-examining-clinicians-decision-to-initiate-invasive-long-term-ventilation
#20
JOURNAL ARTICLE
Mary Brigid Quirke, Denise Alexander, Lorna Cassidy, Cathal Walsh, Kate Masterson, Katie Hill, Maria Brenner
BACKGROUND: The initiation of invasive long-term ventilation (I-LTV) for an adolescent with Rett Syndrome (RTT) involves many serious bioethical considerations. In moving towards a more inclusive model of patient participation, transparency surrounding the main influencing factors around this decision is important. OBJECTIVE: We aimed to identify the main drivers influencing a clinician's decision to support initiation of I-LTV for an adolescent with RTT. METHOD: We used an anonymous online vignette-based factorial survey...
March 6, 2024: European Journal of Paediatric Neurology: EJPN
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