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Neurology; child neurology

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https://www.readbyqxmd.com/read/28645047/neurological-condition-assessed-with-the-hempel-examination-and-cognition-and-behaviour-at-4years
#1
Pamela Schendelaar, Jorien Seggers, Maas Jan Heineman, Mijna Hadders-Algra
AIM: To investigate associations between neurological condition, assessed with the Hempel examination, in terms of minor neurological dysfunction (MND) and neurological optimality, and cognition and behaviour at 4years. STUDY DESIGN: Cross-sectional analyses within a prospective, assessor-blinded follow-up study. SUBJECTS: Four-year-old singletons born to subfertile parents (n=235; 120 boys). OUTCOME MEASURES: Outcome parameters were complex minor neurological dysfunction (complex MND) and the neurological optimality score (NOS)...
June 20, 2017: Early Human Development
https://www.readbyqxmd.com/read/28640217/suboptimal-iodine-concentration-in-breastmilk-and-inadequate-iodine-intake-among-lactating-women-in-norway
#2
Sigrun Henjum, Anne Marie Lilleengen, Inger Aakre, Anna Dudareva, Elin Lovise Folven Gjengedal, Helle Margrete Meltzer, Anne Lise Brantsæter
Breastfed infants depend on sufficient maternal iodine intake for optimal growth and neurological development. Despite this, few studies have assessed iodine concentrations in human milk and there is currently no published data on iodine status among lactating women in Norway. The aim of this study was to assess iodine concentrations in breast milk (BMIC) in lactating women and estimate iodine intake. Five Mother and Child Health Centres in Oslo were randomly selected during 2016, and 175 lactating women between 2nd and 28th weeks postpartum participated...
June 22, 2017: Nutrients
https://www.readbyqxmd.com/read/28637781/detecting-optic-nerve-head-swelling-on-ultrasound-and-optical-coherence-tomography-in-children-and-young-people-an-observational-study
#3
Annegret Hella Dahlmann-Noor, Gillian W Adams, Moritz Claudius Daniel, Alison Davis, Joanne Hancox, Melanie Hingorani, Patricia Ibanez, Becky McPhee, Himanshu Patel, Marie Restori, Clare Roberts, Maria Theodorou, James Acheson
BACKGROUND: Following high-profile cases, referrals for evaluation of 'suspicious optic discs' to eye clinics in the UK have sharply increased, asking ophthalmologists to reliably distinguish between true and pseudopapilloedema. Optic nerve sheath dilatation (ONSD) on ocular ultrasound (US) is considered a reliable sign of true papilloedema, but this test is not widely available. Recently, anterior bowing of Bruch's membrane (BM) and increased retinal nerve fibre layer thickness on optical coherence tomography (OCT) have emerged as indicators of intracranial hypertension, and OCT is widely available...
June 21, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28626543/cerebral-stroke-in-a-teenage-girl-with-paroxysmal-nocturnal-hemoglobinuria
#4
Francesco Gervasi, Lucia D'Amelio, Antonino Trizzino, Fabrizia Ferraro, Delia Russo, Giuseppe Santangelo, Francesca Cardella, Angela Trizzino, Floriana Di Marco, Piero Farruggia
We report a case of paroxysmal nocturnal hemoglobinuria (PNH) in a 14 year-old girl presenting a cerebral arterial thrombosis. The initial diagnosis was carential anemia due to menarche following identification of slight macrocytic anemia, leucopenia and mild thrombocytopenia at routine blood analysis. The child was eventually referred to a children's hospital after the onset of progressive fatigue, anorexia and paleness. Severe anemia (hemoglobin 6 g/dL) with negative Coombs test, mild leucopenia (white blood cells 4...
June 1, 2017: Hematology Reports
https://www.readbyqxmd.com/read/28626255/underlying-cause-of-death-recorded-during-2013-to-2015-at-a-tertiary-general-hospital-in-vientiane-capital-lao-pdr
#5
Bounfeng Phoummalaysith, Viengsakhone Louangpradith, Tavanh Manivon, Bounxou Keohavong, Eiko Yamamoto, Nobuyuki Hamajima
In Lao People's Democratic Republic (Lao PDR), the cause of death is not registered in death reports. As a result, the government cannot produce official reports that show mortality according to cause of death. This study aimed to report the underlying cause of death in a tertiary general hospital (Mittaphab Hospital) in Vientiane capital. Mittaphab hospital is a governmental teaching hospital with 300 beds for inpatient services specialized in orthopedics, neurology, and hemodialysis. Since a children hospital exists beside Mittaphab Hospital, severe pediatric cases are referred to the child hospital...
February 2017: Nagoya Journal of Medical Science
https://www.readbyqxmd.com/read/28620276/an-analysis-of-a-novel-short-term-therapeutic-psychoeducational-program-for-children-and-adolescents-with-chronic-neurological-illness-and-their-parents-feasibility-and-efficacy
#6
Bonglim Joo, Young-Mock Lee, Heung Dong Kim, Soyong Eom
The purpose of this intervention was to develop a therapeutic psycho-educational program that improves quality of life in children and adolescents who are experiencing chronic neurological illness, including epilepsy, and their parents, and to analyze the intervention's feasibility and efficacy and participants' satisfaction. Participants were eight children (n = 8) and adolescents and their parents; participating children were experiencing chronic neurological illness with psychological comorbidity; children with intellectual impairment were excluded (IQ < 80)...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28619065/open-issues-in-mucopolysaccharidosis-type-i-hurler
#7
REVIEW
Rossella Parini, Federica Deodato, Maja Di Rocco, Edoardo Lanino, Franco Locatelli, Chiara Messina, Attilio Rovelli, Maurizio Scarpa
Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening disease, evolving in multisystem morbidity including progressive neurological disease, upper airway obstruction, skeletal deformity and cardiomyopathy. Allogeneic hematopoietic stem cell transplantation (HSCT) is currently the gold standard for the treatment of MPS I-H in patients diagnosed and treated before 2-2...
June 15, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28615421/outcomes-of-colorado-children-with-acute-flaccid-myelitis-at-1-year
#8
Jan A Martin, Kevin Messacar, Michele L Yang, John A Maloney, Jennifer Lindwall, Terri Carry, Patricia Kenyon, Stefan H Sillau, Joyce Oleszek, Kenneth L Tyler, Samuel R Dominguez, Teri L Schreiner
OBJECTIVE: We describe long-term functional, neurodiagnostic, and psychosocial outcomes of a cohort of 12 children from Colorado diagnosed with acute flaccid myelitis (AFM) in 2014. METHODS: Children were assessed every 3 months for 1 year or until clinical resolution. Assessments included neurologic examination, MRI, EMG/nerve conduction studies (NCS), functional measures (Assisting Hand Assessment, Hammersmith Functional Motor Scale), and Patient-Reported Outcomes Measurement Information System questionnaires...
June 14, 2017: Neurology
https://www.readbyqxmd.com/read/28612835/coexisting-variants-in-ostm1-and-maneal-cause-a-complex-neurodegenerative-disorder-with-nbia-like-brain-abnormalities
#9
Diran Herebian, Bader Alhaddad, Annette Seibt, Thomas Schwarzmayr, Katharina Danhauser, Dirk Klee, Stefani Harmsen, Thomas Meitinger, Tim M Strom, Ansgar Schulz, Ertan Mayatepek, Tobias B Haack, Felix Distelmaier
Coexistence of different hereditary diseases is a known phenomenon in populations with a high consanguinity rate. The resulting clinical phenotypes are extremely challenging for physicians involved in the care of these patients. Here we describe a 6-year-old boy with co-occurrence of a homozygous splice defect in OSTM1, causing infantile malignant osteopetrosis, and a loss-of-function variant in MANEAL, which has not been associated with human disease so far. The child suffered from severe infantile-onset neurodegeneration that could not be stopped by bone marrow transplantation...
June 14, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28607820/incidental-choroid-plexus-papilloma-in-a-child-a-difficult-decision
#10
Avra S Laarakker, Jonathan Nakhla, Andrew Kobets, Rick Abbott
BACKGROUND: Choroid plexus tumors (CPT) in the pediatric population are usually discovered in symptomatic patients often with symptoms of increased intracranial pressure, with hydrocephalus as the most common presentation, along with seizures, subarachnoid hemorrhage, or focal neurological deficit. Most CPTs are found to be benign choroid plexus papillomas (CPP), whereas a small number are intermediate and malignant choroid plexus carcinomas (CPC). Total surgical resection is the established definitive treatment for symptomatic CPP...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28607066/socioeconomic-disadvantage-gestational-immune-activity-and-neurodevelopment-in-early-childhood
#11
Stephen E Gilman, Mady Hornig, Akhgar Ghassabian, Jill Hahn, Sara Cherkerzian, Paul S Albert, Stephen L Buka, Jill M Goldstein
Children raised in economically disadvantaged households face increased risks of poor health in adulthood, suggesting that inequalities in health have early origins. From the child's perspective, exposure to economic hardship may begin as early as conception, potentially via maternal neuroendocrine-immune responses to prenatal stressors, which adversely impact neurodevelopment. Here we investigate whether socioeconomic disadvantage is associated with gestational immune activity and whether such activity is associated with abnormalities among offspring during infancy...
June 12, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28602938/-let-s-bring-her-home-first-patient-characteristics-and-place-of-death-in-specialized-pediatric-palliative-home-care
#12
Hans Ulrich Bender, Martin Bernhard Riester, Gian Domenico Borasio, Monika Führer
CONTEXT: Specialized pediatric palliative home care (SPPHC) is the main pediatric palliative care structure in Germany. Detailed data on patient characteristics and care are sparse. Describing this population in terms of diagnoses and care needs is essential for further development of palliative care services for these patients. OBJECTIVES: We asked whether the population at our center (i) was representative compared with national mortality statistics; (ii) showed differences in the clinical course among the four diagnostic categories established by the Association for Children with Terminal Conditions/Royal College of Paediatrics and Child Health (ACT/RCPCH), and (iii) was different to published populations in pediatric palliative care regarding diagnoses, care and place of death...
June 7, 2017: Journal of Pain and Symptom Management
https://www.readbyqxmd.com/read/28600735/an-adolescent-boy-progressing-insidiously-to-end-stage-renal-disease-questions
#13
Aysun Çaltık Yılmaz, Bahar Buyukkaragoz, Selcuk Kivilcim, Aslı Celebi Tayfur, Sacit Gunbey
Hinman syndrome (HS), or non-neurogenic neurogenic bladder, is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits. The bladder-sphincter discoordination causes damage to the bladder and upper urinary tract if it is not timely diagnosed and adequately treated. This case emphasizes the following important message; nighttime wetting is not a benign condition in every child. Parental awareness should be raised about voiding disorders, so it may be possible to prevent some important renal diseases such as Hinman syndrome...
June 9, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28600697/neurotoxicity-of-cyclosporine%C3%A2-a-in-children-with-steroid-resistant-nephrotic-syndrome-is-cytotoxic-edema-really-an-unfavorable-predictor-of-permanent-neurological-damage
#14
Danica Batinić, Danko Milošević, Boris Filipović-Grčić, Marija Topalović-Grković, Nina Barišić, Daniel Turudić
BACKGROUND: Cyclosporine A-associated neurotoxicity has been reported mainly after organ transplantation. Only a small number of children with steroid-resistant nephrotic syndrome and cyclosporine A-associated neurotoxicity have been reported. PATIENTS: We report three children, aged 4, 11, and 15, with steroid-resistant nephrotic syndrome and cyclosporine A-associated neurotoxicity. In two of the patients, primary diagnosis was idiopathic nephrotic syndrome, and in one it was IgA nephropathy...
June 9, 2017: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/28600054/prenatal-treatment-of-severe-fetal-hemolytic-disease-due-to-anti-m-alloimmunization-by-serial-intrauterine-transfusions
#15
Lin Li, Linhuan Huang, Guangping Luo, Yanmin Luo, Qun Fang
OBJECTIVE: Fetal hemolytic disease is a common cause of fetal hydrops and fetal morbidity and mortality. Despite its relatively low frequency, the anti-M IgG antibody is one of the causes of severe fetal anemia and intrauterine death; only a few cases have been reported. CASE REPORT: This is a case of a pregnant woman with a history of three intrauterine deaths. A diagnosis of severe fetal anemia attributed to anti-M alloimmunization was confirmed in her fifth pregnancy...
June 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28599619/a-devastating-case-of-diarrhea-associated-hemolytic-uremic-syndrome-associated-with-extensive-cerebral-infarction-why-we-need-to-do-better
#16
Werner Keenswijk, Evelyn Dhont, Ann Raes, An Bael, Johan Vande Walle
A 4-year-old girl with diarrhea-associated hemolytic uremic syndrome (D+HUS) was transferred to the PICU of our center due to deteriorating renal function and neurological involvement. On admission, a comatous child was seen with hypoventilation and she was placed on mechanical ventilation. Hemodialysis was commenced but plasma exchange was discontinued due to repeated hypersensitivity reactions. A trial of eculizumab was given in light of the worsening of her neurologic condition with development of a pyramidal syndrome and deepening of the coma...
June 9, 2017: Acta Clinica Belgica
https://www.readbyqxmd.com/read/28597716/postmortem-whole-exome-sequencing-identifies-novel-eif2b3-mutation-with-prenatal-phenotype-in-2-siblings
#17
Hannah Song, Sina Haeri, Hannes Vogel, Marjo van der Knaap, Keith Van Haren
OBJECTIVE: We describe 2 male siblings with a severe, prenatal phenotype of vanishing white matter disease and the impact of whole exome sequencing on their diagnosis and clinical care. METHODS: The 2 children underwent detailed clinical characterization, through clinical and laboratory testing, as well as prenatal and postnatal imaging. Biobanked blood from the 2 siblings was submitted for whole exome sequencing at Baylor Laboratories. RESULTS: Both male children had abnormal prenatal neuroimaging and suffered precipitous, fatal neurologic decline...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28591056/epidemiology-and-clinical-analysis-of-critical-patients-with-child-maltreatment-admitted-to-the-intensive-care-units
#18
En-Pei Lee, Shao-Hsuan Hsia, Jing-Long Huang, Jainn-Jim Lin, Oi-Wa Chan, Chia-Ying Lin, Kuang-Lin Lin, Yu-Ching Chang, I-Jun Chou, Fu-Song Lo, Jung Lee, Yi-Chen Hsin, Pei-Chun Chan, Mei-Hua Hu, Cheng-Hsun Chiu, Han-Ping Wu
Children with abuse who are admitted to the intensive care unit (ICU) may have high mortality and morbidity and commonly require critical care immediately. It is important to understand the epidemiology and clinical characteristics of these critical cases of child maltreatment.We retrospectively evaluated the data for 355 children with maltreatments admitted to the ICU between 2001 and 2015. Clinical factors were analyzed and compared between the abuse and the neglect groups, including age, gender, season of admission, identifying settings, injury severity score (ISS), etiologies, length of stay (LOS) in the ICU, clinical outcomes, and mortality...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28590989/-it-s-not-a-tumor-a-rare-case-of-symptomatic-cerebellar-developmental-venous-anomaly
#19
Julie A Augenstein, Teresa Chapman, Michael J McNeil, Mark D Lo
Cerebral developmental venous anomalies (DVAs) are benign anatomical variants of the venous system and are commonly described as an incidental finding without clinical significance. Neurologic symptoms or abnormal examination findings are rare and usually attributed to hemorrhagic complications related to coexisting cavernous malformations. There have been limited case reports of symptomatic, uncomplicated DVAs described in the literature. The following case describes a previously healthy child who presented to the emergency department with an acute onset of altered mental status, headache, and focal neurologic examination abnormalities...
June 6, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28588179/childhood-wilson-disease-bangladesh-perspective
#20
M Rukunuzzaman, A B Karim, M Nurullah, F Sultana, M W Mazumder, M A Rahman, S B Billah, F Begum, M Oliullah
Wilson's disease (WD) is an autosomal recessive disorder affecting copper metabolism causing copper induced damage to various organs. In children liver is commonly involved. Central nervous system, eyes, RBC, kidneys, brain and bones may also be affected. Aim of the study is to evaluate clinical & laboratory profile of Wilson's disease in children. This cross sectional descriptive study was conducted at the department of Paediatric Gastroenterology and Nutrition, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh, from January 2011 to December, 2013...
April 2017: Mymensingh Medical Journal: MMJ
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