keyword
https://read.qxmd.com/read/38618955/capillary-malformations
#1
REVIEW
Adrienne M Hammill, Elisa Boscolo
Capillary malformation (CM), or port wine birthmark, is a cutaneous congenital vascular anomaly that occurs in 0.1%-2% of newborns. Patients with a CM localized on the forehead have an increased risk of developing a neurocutaneous disorder called encephalotrigeminal angiomatosis or Sturge-Weber syndrome (SWS), with complications including seizure, developmental delay, glaucoma, and vision loss. In 2013, a groundbreaking study revealed causative activating somatic mutations in the gene (GNAQ) encoding guanine nucleotide-binding protein Q subunit α (Gαq) in CM and SWS patient tissues...
April 15, 2024: Journal of Clinical Investigation
https://read.qxmd.com/read/38607549/giant-cerebral-cavernous-malformation-in-a-newborn-a-rare-case-report-and-review-of-literature
#2
JOURNAL ARTICLE
Ismael Moreno, Gianluca Scalia, Giuseppe Emmanuele Umana, Ciro Soriano, Isis Alcivar, Bipin Chaurasia
BACKGROUND: Cavernous malformations (CMs), also known as cavernomas or cavernous angiomas, are vascular malformations characterized by sinusoidal spaces lined by endothelial cells. Giant CMs (GCMs) are extremely rare, with limited understanding of their presentation and management. We present a case of symptomatic GCM in a newborn and review the literature on this rare entity. CASE DESCRIPTION: A 1-month-old newborn presented with focal seizures and signs of increased intracranial pressure...
April 12, 2024: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://read.qxmd.com/read/38595514/vitamin-d-levels-assessment-among-the-neonates-with-and-without-seizures-a-single-center-cross-sectional-study
#3
JOURNAL ARTICLE
Nilamadhab Prusty, Sai Y Peela, Haifa Manaf, Smit Thakkar, Yaswanthi Yanamadala, Chapala Shashank
INTRODUCTION: The impact that vitamin D (vit D) has on a variety of medical conditions like diabetes, cardiovascular, oncological, and central nervous system disorders has been a topic of interest for many years now. It is well-known that vit D deficiency is substantially more common in epileptics than in healthy subjects. The current research was piloted to analyse the vit D levels of the blood in newborns with seizures, as well as mothers' vit D status included subjects. MATERIALS AND METHODS: A cross-sectional examination was piloted at a tertiary care center, which had a neonatal intensive care unit (NICU)...
February 2024: Journal of Pharmacy & Bioallied Sciences
https://read.qxmd.com/read/38594715/clinical-functional-correlation-with-brain-volumetry-in-severe-perinatal-asphyxia-a-case-report
#4
JOURNAL ARTICLE
Juan Pablo Velasquez-Minoli, Natalia Cardona-Ramirez, Hernan Felipe Garcia-Arias, Feliza Restrepo-Restrepo, Gloria Liliana Porras-Hurtado
BACKGROUND: Hypoxic-ischemic encephalopathy (HIE) appears in neurological conditions where some brain areas are likely to be injured, such as deep grey matter, basal ganglia area, and white matter subcortical periventricular áreas. Moreover, modeling these brain areas in a newborn is challenging due to significant variability in the intensities associated with HIE conditions. This paper aims to evaluate functional measurements and 3D machine learning models of a given HIE case by correlating the affected brain areas with the pathophysiology and clinical neurodevelopmental...
April 9, 2024: Italian Journal of Pediatrics
https://read.qxmd.com/read/38586436/group-b-streptococcus-brain-abscess-in-a-neonate-with-bilateral-otorrhea
#5
Emily E Spencer, Sarah Van Nostrand, Shreyas Arya
Introduction  Group B streptococcus (GBS) is the leading cause of bacterial sepsis and meningitis in neonates worldwide, but brain abscess secondary to GBS is extremely rare. While temporal brain abscesses have been described as a sequelae of otogenic infections in children and adults, such a presentation has not been described in neonates. Case Description  An 8-day-old female infant presented with a fever and irritability along with bilateral purulent otorrhea. Maternal GBS screening was negative, but the delivery was complicated by chorioamnionitis...
April 2024: American Journal of Perinatology Reports
https://read.qxmd.com/read/38553924/the-effect-of-hypoxic-ischemic-encephalopathy-towards-multi-organ-complications-and-its-early-outcome-at-a-malaysian-district-hospital
#6
JOURNAL ARTICLE
W H Chong, H Y Ong, J S Ooi, Y Y Eleen Khaw, L M Lim, M M Tew, H W Koo, A R Aishah, P W Goh
INTRODUCTION: Hypoxic ischemic encephalopathy (HIE) is a clinically defined syndrome of disturbed neurologic function in the newborn with evidence of perinatal asphyxia. Stages of HIE are categorised into mild, moderate or severe based on the Sarnat classification. Neurological dysfunction constitutes a part of the wide spectrum of hypoxic ischemic insult as affected infants can have co-existing multi-organ dysfunction which further contributes to morbidities and mortality. This study aims to determine the relationship between the severity of HIE with multi-organ complications and early clinical outcomes...
March 2024: Medical Journal of Malaysia
https://read.qxmd.com/read/38493709/enterovirus-and-parechovirus-meningoencephalitis-in-infants-a-ten-year-prospective-observational-study-in-a-neonatal-intensive-care-unit
#7
JOURNAL ARTICLE
Carlo Pietrasanta, Andrea Ronchi, Laura Bassi, Agnese De Carli, Luca Caschera, Francesco Maria Lo Russo, Beatrice Letizia Crippa, Silvia Pisoni, Riccardo Crimi, Giacomo Artieri, Laura Pellegrinelli, Robertino Dilena, Giorgio Conte, Fabio Mosca, Monica Fumagalli, Lorenza Pugni
BACKGROUND: Non-polio enteroviruses (EV) and human parechoviruses (HPeV) are known etiological agents of meningoencephalitis in neonates. However, reports of neuroradiological findings and neurodevelopmental outcomes in this population are scarce. OBJECTIVES: to describe clinical characteristics, neuroradiological findings and, in a subset of patients, neurodevelopmental outcomes in a cohort of infants with EV or HPeV meningoencephalitis within 60 days of life. STUDY DESIGN: clinical/laboratory data, neuroradiological findings (cranial ultrasound, cUS, brain magnetic resonance imaging, MRI), and neurodevelopmental outcomes assessed by Ages and Stages Questionnaires - third edition were prospectively collected...
March 5, 2024: Journal of Clinical Virology
https://read.qxmd.com/read/38489714/lipid-emulsion-treatment-for-local-anesthetic-systemic-toxicity-in-pediatric-patients-a-systematic-review
#8
JOURNAL ARTICLE
Soo Hee Lee, Sunmin Kim, Ju-Tae Sohn
BACKGROUND: Local anesthetic systemic toxicity (LAST) is rare, but fatal; the current widely used treatment is lipid emulsion (LE). The goal of this study was to analyze and review case reports on LE treatment for LAST in pediatric patients. METHODS: We performed a systematic review using case reports on LE treatment for LAST in pediatric patients, searching PubMed and Scopus databases to March 2023 using the following keywords: ("local anesthetic toxicity" OR "local anesthetic systemic toxicity" OR LAST") AND ("newborn" OR "infant" OR "child" OR "children" OR "adolescent" OR "pediatric") AND ("lipid emulsion" OR "Intralipid")...
March 15, 2024: Medicine (Baltimore)
https://read.qxmd.com/read/38487157/perinatal-birth-asphyxia-among-newborns-at-jiblah-public-health-hospital-in-ibb-city-yemen-during-six-years-of-conflict-and-its-predictive-factors-a-retrospective-cross-sectional-study
#9
JOURNAL ARTICLE
Afaf Alsharif, Abdullah M Almatary, Faisal Ahmed, Mohamed Badheeb
BACKGROUND: Birth asphyxia is a major cause of infant death across the world, especially in developing countries, where the issue is significantly underreported and underestimated, particularly in fragile and conflict-affected states. OBJECTIVE: The purpose of this study was to determine the prevalence and risk factors for birth asphyxia in women at Jiblah University Hospital in Ibb, Yemen, and its predictive factors throughout six years of conflict. METHOD: We conducted a retrospective cross-sectional chart review and analysis of the birth database spanning from June 2013 to September 2019 at Jiblah University Hospital in Ibb, Yemen...
February 2024: Curēus
https://read.qxmd.com/read/38483743/bone-marrow-nucleated-cells-and-bone-marrow-derived-cd271-%C3%A2-mesenchymal-stem-cell-in-treatment-of-encephalopathy-and-drug-resistant-epilepsy
#10
JOURNAL ARTICLE
Olga Milczarek, Danuta Jarocha, Anna Starowicz-Filip, Maciej Kasprzycki, Jacek Kijowski, Anna Mordel, Stanisław Kwiatkowski, Marcin Majka
The broad spectrum of brain injuries in preterm newborns and the plasticity of the central nervous system prompts us to seek solutions for neurodegeneration to prevent the consequences of prematurity and perinatal problems. The study aimed to evaluate the safety and efficacy of the implantation of autologous bone marrow nucleated cells and bone marrow mesenchymal stem cells in different schemes in patients with hypoxic-ischemic encephalopathy and immunological encephalopathy. Fourteen patients received single implantation of bone marrow nucleated cells administered intrathecally and intravenously, followed by multiple rounds of bone marrow mesenchymal stem cells implanted intrathecally, and five patients were treated only with repeated rounds of bone marrow mesenchymal stem cells...
March 14, 2024: Stem cell reviews and reports
https://read.qxmd.com/read/38482535/outcomes-symptomatology-and-mortality-of-children-presenting-with-bacterial-meningitis-at-allied-hospitals-of-rawalpindi-medical-university-pakistan-a-cross-sectional-study
#11
JOURNAL ARTICLE
Muhammad Zarak Khan, Aiman Waheed, Faizan Fazal, Shahrukh Ahmad Khan, Ehsan Ahmad, Sanan Rasheed, Talha Ijaz, Areesha Abid, Saima Ambreen, Bilal Haider Malik
Introduction Bacterial meningitis (BM) is a neurologic emergency mainly affecting children under the age of two. Clinical symptoms are rarely evident in children, thus making a diagnosis is a challenge. Antibiotic therapy should be started timely to ensure the avoidance of significant morbidity and mortality. This study aims to assess the outcomes, mortality, and symptomatology of children presenting with BM in allied hospitals of Rawalpindi Medical University, Pakistan. Methods It is a cross-sectional study employing a sample size of 201, conducted at the Allied Hospitals of Rawalpindi Medical University, Pakistan from a period of January 2023 to August 2023...
March 2024: Curēus
https://read.qxmd.com/read/38457309/levetiracetam-prescription-profile-in-children-younger-than-4-years-treated-at-a-tertiary-care-hospital-in-chile
#12
JOURNAL ARTICLE
Mónica Kyonen, Lily Acuña, Bárbara Ramos, Jocelyn Gutiérrez, R Mauricio Barría
Introduction. Levetiracetam (LEV) is an antiepileptic drug approved by the Chilean Institute of Public Health as concomitant therapy for epileptic seizures in children older than 4 years of age. However, it is widely prescribed from the neonatal period, which makes it necessary to evaluate its off-label use. Objective. To determine the prescription-indication profile of LEV in the treatment of epileptic seizures in children younger than 4 years in a tertiary care hospital in southern Chile. Population and method...
March 14, 2024: Archivos Argentinos de Pediatría
https://read.qxmd.com/read/38434370/genotype-characterization-of-tetrahydrobiopterin-deficiency-in-two-tibetan-children
#13
Shuyao Zhu, Qi Hu, Yunxia Yang, Hui Zhu, Jin Wang, Zemin Luo, Mincai Ou, Ai Chen, Yu Huang, Fu Xiong, Jiaji Zhou, Jinglin Liu, Xunming Lei, Lan Zeng
BACKGROUND: Tetrahydrobiopterin (BH4) deficiency is a rare cause of hyperphenylalaninemia (HPA). The incidence of this condition varies based on region and ethnicity. In the early stages, patients typically do not exhibit any symptoms, and HPA is identified only through newborn screening for diseases. It is important to distinguish BH4 deficiency from phenylketonuria (PKU, MIM # 261600). Timely diagnosis and treatment of BH4 deficiency are crucial for the prognosis of patients. CASE PRESENTATION: We present two rare cases of Chinese Tibetan children with BH4D, diagnosed through biochemical tests and genetic sequencing...
March 15, 2024: Heliyon
https://read.qxmd.com/read/38429893/challenges-to-epilepsy-management-in-rwandan-women-living-with-epilepsy
#14
JOURNAL ARTICLE
Dirk E Teuwen, Arlène Ndayisenga, Ieme Garrez, Fidèle Sebera, Sylvestre Mutungirehe, Josiane Umwiringirwa, Mustapha Ndiaye, Georgette Umuhoza, Paul A J M Boon, Peter Dedeken
BACKGROUND AND PURPOSE: In Rwanda, epilepsy prevalence ranges between 29‰ and 49‰. Many women living with epilepsy (WwE) are of childbearing age. Epilepsy characteristics and management, contraception, pregnancy, puerperium and stigma in WwE presenting at the neurology clinic of Ndera, Rwanda, were investigated. METHODS: This prospective cross-sectional study investigated demographics, epilepsy characteristics, treatment, contraception, folic acid use, pregnancy, puerperium and stigma in WwE aged ≥18 years...
March 1, 2024: European Journal of Neurology
https://read.qxmd.com/read/38411671/late-onset-progressive-sensorineural-hearing-loss-in-the-paediatric-population-a-systematic-review
#15
REVIEW
Virginia Corazzi, Surina Fordington, Tamsin Holland Brown, Neil Donnelly, Jessica Bewick, Diana Ehsani, Stefano Pelucchi, Chiara Bianchini, Andrea Ciorba, Daniele Borsetto
PURPOSE: To review possible risk factors for permanent delayed-onset, progressive sensorineural hearing loss (SNHL) in the paediatric population to recommend follow-up protocols for early detection. METHODS: PRISMA-compliant systematic review was performed, including observational studies on the paediatric population up to 16 years old who have passed the newborn hearing screening programme (NHSP), investigating the development of late-onset, progressive SNHL...
February 27, 2024: European Archives of Oto-rhino-laryngology
https://read.qxmd.com/read/38389347/new-neuroimaging-findings-in-patients-with-molybdenum-cofactor-deficiency-type-a-a-case-report-and-literature-review
#16
REVIEW
Hui Liu, Xiaohe Yu, Singting He, Shuquan Li
INTRODUCTION: Molybdenum cofactor deficiency (MoCD-A) is an extremely rare autosomal recessive disease that presents with intractable seizures. The diagnosis poses challenges due to the limited number of cases reported worldwide. Magnetic resonance imaging (MRI) is a useful diagnostic tool that can detect brain injury associated with the disorder. The prognosis of MoCD-A is poor partly because most cases are initially misdiagnosed as HIE (hypoxic ischemic encephalopathy), emphasizing the need for an early and accurate diagnosis to improve quality of life and provide adequate genetic counseling to avoid new cases in the future...
2024: Current medical imaging
https://read.qxmd.com/read/38387280/association-between-seizures-and-neurodevelopmental-outcome-at-two-and-five-years-in-asphyxiated-newborns-with-therapeutic-hypothermia
#17
JOURNAL ARTICLE
Juliette F Langeslag, Wes Onland, Floris Groenendaal, Linda S de Vries, Anton H van Kaam, Timo R de Haan
OBJECTIVE: To investigate the association between the presence and severity of seizures in asphyxiated newborns and their neurodevelopmental outcome at ages two and five years. METHODS: Retrospective data analysis from a prospectively collected multicenter cohort of 186 term-born asphyxiated newborns undergoing therapeutic hypothermia (TH) in 11 centers in the Netherlands and Belgium. Seizures were diagnosed by amplitude-integrated electroencephalography (EEG) and raw EEG signal reading up to 48 hours after rewarming...
February 2, 2024: Pediatric Neurology
https://read.qxmd.com/read/38383949/differences-in-testing-for-drugs-of-abuse-amongst-racial-and-ethnic-groups-at-children-s-hospitals
#18
JOURNAL ARTICLE
Adriana Herrera, Matt Hall, Marshall Alex Ahearn, Arshiya Ahuja, Kathleen K Bradford, Robert A Campbell, Ashmita Chatterjee, Hannah Y Coletti, Virginia L Crowder, Ria Dancel, Melissa Diaz, Jennifer Fuchs, Jessica Guidici, Emilee Lewis, John R Stephens, Ashley G Sutton, Alison Sweeney, Kelley M Ward, Steven Weinberg, Eric K Zwemer, Wade N Harrison
OBJECTIVES: Racial and ethnic differences in drug testing have been described among adults and newborns. Less is known regarding testing patterns among children and adolescents. We sought to describe the association between race and ethnicity and drug testing at US children's hospitals. We hypothesized that non-Hispanic White children undergo drug testing less often than children from other groups. METHODS: We conducted a retrospective cohort study of emergency department (ED)-only encounters and hospitalizations for children diagnosed with a condition for which drug testing may be indicated (abuse or neglect, burns, malnutrition, head injury, vomiting, altered mental status or syncope, psychiatric, self-harm, and seizure) at 41 children's hospitals participating in the Pediatric Health Information System during 2018 and 2021...
February 21, 2024: Journal of Hospital Medicine: An Official Publication of the Society of Hospital Medicine
https://read.qxmd.com/read/38379632/bartter-syndrome-in-a-female-infant-a-rare-case-report-from-syria
#19
Hamdah Hanifa, Jamal Ataya, Malak Abu-Naja, Ali Aborahhal, Nihad Assaf
Antenatal Bartter syndrome is a rare condition that affects approximately 1.2 individuals per million. It is caused by renal tubular dysfunction that impairs the reabsorption of sodium and chloride. This results in various symptoms such as polyuria, vomiting, dehydration, and failure to thrive. Because of its low prevalence, diagnosing this disorder can be challenging for medical professionals. In this report, we describe a rare case of a 3-month-old female infant who had symptoms of Bartter syndrome, such as severe hypotension, facial flattening, cough, and seizures...
2024: SAGE Open Medical Case Reports
https://read.qxmd.com/read/38369451/physiologically-based-pharmacokinetic-modeling-of-lacosamide-in-patients-with-hepatic-and-renal-impairment-and-pediatric-populations-to-support-pediatric-dosing-optimization
#20
JOURNAL ARTICLE
Xinyu Zhu, Lingfeng Guo, Lei Zhang, Yichao Xu
PURPOSE: Lacosamide (LCM) is a new-generation anti-seizure medication that is efficacious in patients with focal seizures with or without secondary generalization. Until now, the efficacy, safety, and tolerability of LCM are still lacking in Chinese epilepsy patients, particularly for pediatric populations and patients with renal or hepatic impairment. METHODS: This study was conducted to develop a physiologically based pharmacokinetic (PBPK) model to characterize the pharmacokinetics of LCM in Chinese populations and predict the pharmacokinetics of LCM in Chinese pediatric populations and patients with renal or hepatic impairment...
February 17, 2024: Clinical Therapeutics
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