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https://www.readbyqxmd.com/read/28904675/von-willebrand-s-disease-case-report-and-review-of-literature
#1
Hanae Echahdi, Brahim El Hasbaoui, Mohamed El Khorassani, Aomar Agadr, Mohamed Khattab
Von Willebrand Disease (VWD) is the most common human inherited bleeding disorder due to a defect of Von Willebrand Factor (VWF), which a glycoprotein crucial for platelet adhesion to the subendothelium after vascular injury. VWD include quantitative defects of VWF, either partial (type 1 with VWF levels < 50 IU/dL) or virtually total (type 3 with undetectable VWF levels) and also qualitative defects of VWF (type 2 variants with discrepant antigenic and functional VWF levels). The most bleeding forms of VWD usually do not concern type 1 patients with the mildest VWF defects (VWF levels between 30 and 50IU/dL)...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28903967/long-term-follow-up-of-benign-positional-vertical-opsoclonus-in-infants-retrospective-cohort
#2
Amir Sternfeld, Daniella Lobel, Hana Leiba, Judith Luckman, Shalom Michowiz, Nitza Goldenberg-Cohen
BACKGROUND/AIMS: Benign positional vertical opsoclonus in infants, also described as paroxysmal tonic downgaze, is an unsettling phenomenon that leads to extensive work-up, although benign course has been reported in sporadic cases. We describe long-term follow-up of a series of infants with the phenomenon. METHODS: This retrospective cohort included all infants diagnosed with rapid downgaze eye movement in 2012-2015 and followed until 2016. The databases of two medical centres were retrospectively reviewed...
September 13, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28900823/health-related-quality-of-life-developmental-milestones-and-self-esteem-in-young-adults-with-bleeding-disorders
#3
P F Limperg, L Haverman, H Maurice-Stam, M Coppens, C Valk, M J H A Kruip, J Eikenboom, M Peters, M A Grootenhuis
BACKGROUND: The treatment of bleeding disorders improved in the last decades. However, the effect of growing up with bleeding disorders on developmental, emotional, and social aspects is understudied. Therefore, this study assesses HRQOL, developmental milestones, and self-esteem in Dutch young adults (YA) with bleeding disorders compared to peers. METHODS: Ninety-five YA (18-30 years) with bleeding disorders (78 men; mean 24.7 years, SD 3.5) and 17 women (mean 25...
September 12, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/28900155/inflexible-neurobiological-signatures-precede-atypical-development-in-infants-at-high-risk-for-autism
#4
Kristina Denisova, Guihu Zhao
Variability in neurobiological signatures is ubiquitous in early life but the link to adverse developmental milestones in humans is unknown. We examined how levels of signal and noise in movement signatures during the 1st year of life constrain early development in 71 healthy typically developing infants, either at High or Low familial Risk (HR or LR, respectively) for developing Autism Spectrum Disorders (ASD). Delays in early learning developmental trajectories in HR infants (validated in an analysis of 1,445 infants from representative infant-sibling studies) were predicted by worse stochastic patterns in their spontaneous head movements as early as 1-2 months after birth, relative to HR infants who showed more rapid developmental progress, as well as relative to all LR infants...
September 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28891382/an-investigation-of-the-factors-related-to-low-parent-adolescent-attachment-security-in-taiwan
#5
Chen-Jung Chen, Huei-Chuan Sung, Yi-Chang Chen, Chih-Hung Wang
BACKGROUND: Adolescence may involve increases in many behavioral problems and psychosocial maladaptation. Adolescents must successfully cope with these challenges to achieve positive developmental milestones. OBJECTIVES: To investigate whether low parental attachment security among adolescents in Taiwan is associated with their demographic characteristics, psychosocial maladaptation, and depression. DESIGN: A cross-sectional survey. A total of 335 adolescents completed the questionnaires...
September 1, 2017: Journal of the American Psychiatric Nurses Association
https://www.readbyqxmd.com/read/28890525/cognitive-development-after-kawasaki-disease%C3%A3-clinical-study-and-validation-using-a-nationwide-population-based-cohort
#6
Liang-Jen Wang, Ho-Chang Kuo
BACKGROUND: This purpose of this study was to investigate whether Kawasaki disease (KD) increases the risk of cognitive impairment. In this clinical study, cognitive profiles were compared between KD patients, control subjects, and a nationwide population-based cohort to determine the potential correlation between KD and a subsequent diagnosis of an intellectual disability.Methods and Results:The clinical study consisted of 168 KD patients (mean age 5.6 years, 62.5% male) and 81 healthy controls (mean age 6...
September 9, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28883876/metabolic-screening-in-children-with-neurodevelopmental-delay-seizure-and-or-regression
#7
Parvaneh Karimzadeh, Mohammad Mahdi Taghdiri, Ezatollah Abasi, Masoud Hassanvand Amouzadeh, Zhila Naghavi, Ahad Ghazavi, Mohammad Mahdi Nasehi, Abbas Alipour
OBJECTIVE: Neurometabolic disorder is one of the important groups of diseases that prominently has presentation early infantile period. In this study, we evaluated the result of metabolic screening of the patient with seizure, developmental delay and/or regression in development, demographic disease clinical and radiological findings on admitted and outpatient visited children. MATERIALS & METHODS: Two-year retrospective review of 187 children with seizure, developmental delay and/or regression in the Mofid Children Hospital, Tehran, Iran was performed...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28856607/natural-history-of-aromatic-l-amino-acid-decarboxylase-deficiency-in-taiwan
#8
Wuh-Liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee, Mei-Hsin Li
OBJECTIVES: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare inherited disorder of monoamine neurotransmitter synthesis; this deficiency leads to psychomotor delay, hypotonia, oculogyric crises, dystonia, and extraneurological symptoms. This study aimed to provide further insight into the clinical course of AADC deficiency in Taiwan. PATIENTS AND METHODS: We present a retrospective, descriptive, single-center study of 37 children with a confirmed diagnosis of AADC deficiency...
August 31, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28842941/characterization-of-early-communicative-behavior-in-mouse-models-of-neurofibromatosis-type-1
#9
Susan E Maloney, Krystal C Chandler, Corina Anastasaki, Michael A Rieger, David H Gutmann, Joseph D Dougherty
Neurofibromatosis type 1 (NF1) is a monogenic neurodevelopmental disease caused by germline loss-of-function mutations in the NF1 tumor suppressor gene. Cognitive impairments are observed in approximately 80% of children with this disease, with 45-60% exhibiting autism spectrum disorder (ASD) symptomatology. In light of the high comorbidity rate between ASD and NF1, we assessed early communicative behavior by maternal-separation induced pup ultrasonic vocalizations (USV) and developmental milestones in two distinct Nf1 genetically engineered models, one modeling clinical germline heterozygous loss of Nf1 function (Nf1(+/-) mice), and a second with somatic biallelic Nf1 inactivation in neuroglial progenitor cells (Nf1(GFAP) CKO mice)...
August 26, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28836805/pediatric-rehabilitation-psychology-rehabilitating-a-moving-target
#10
Jacqueline N Kaufman, Sarah Lahey, Beth S Slomine
The current special section includes manuscripts focusing on four aspects of pediatric rehabilitation psychology that are unique to this practice area. The first domain addressed is natural developmental progression in the context of a disability (i.e., habilitation). The next domain addressed in this special section is pediatric rehabilitation; pediatric rehabilitation psychology addresses the reacquisition of previously attained skills and abilities within the context of the natural developmental milieu. This special section also highlights the inherently interdisciplinary and transdisciplinary nature of pediatric rehabilitation psychology given the complex environment in which children exist...
August 2017: Rehabilitation Psychology
https://www.readbyqxmd.com/read/28833057/rank-acquisition-in-rhesus-macaque-yearlings-following-permanent-maternal-separation-the-importance-of-the-social-and-physical-environment
#11
Lauren J Wooddell, Stefano S K Kaburu, Ashley M Murphy, Stephen J Suomi, Amanda M Dettmer
Rank acquisition is a developmental milestone for young primates, but the processes by which primate yearlings attain social rank in the absence of the mother remain unclear. We studied 18 maternally reared yearling rhesus macaques (Macaca mulatta) that differed in their social and physical rearing environments. We found that early social experience and maternal rank, but not individual traits (weight, sex, age), predicted dominance acquisition in the new peer-only social group. Yearlings also used coalitions to reinforce the hierarchy, and social affiliation (play and grooming) was likely a product, rather than a determinant, of rank acquisition...
August 18, 2017: Developmental Psychobiology
https://www.readbyqxmd.com/read/28816916/developmental-screening-in-pediatric-sickle-cell-disease-disease-related-risk-and-screening-outcomes-in-4-year-olds
#12
Jeffrey Schatz, Alyssa Schlenz, Laura Reinman, Kelsey Smith, Carla W Roberts
OBJECTIVE: Studies of early child development in sickle cell disease (SCD) have found modest associations between disease-related risks and developmental status in infants and toddlers, but such associations are evident by early elementary school. We screened 4-year-old children with SCD using 2 screening strategies to assess if biomedical risk factors for neurologic disease are related to developmental screening outcomes at this intermediate age. METHODS: Seventy-seven 4-year-old children with SCD (M = 4...
August 4, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28816198/lingual-frenectomy-in-joubert-syndrome
#13
Vivek Gurjar, Minal Gurjar, Channaveer Pattanshetti, Banashree Sankeshwari
AIM: Our aim is to present a case of a rare disorder, such as Joubert syndrome (JS) which required oral surgical intervention under general anesthesia at a very young age to help in achieving normal developmental milestones. BACKGROUND: Ciliopathies are an emerging class of diseases of which JS is a significant member. There have been very few cases of JS with its distinguishing features which have been reported in recent literature. CASE REPORT: We herewith present a case of JS who reported to our unit with a complaint of speech abnormality...
August 1, 2017: Journal of Contemporary Dental Practice
https://www.readbyqxmd.com/read/28804634/muscle-mri-findings-in-a-one-year-old-girl-with-merosin-deficient-congenital-muscular-dystrophy-type-1a-due-to-lama2-mutation-a-case-report
#14
Yingyin Liang, Guidian Li, Songlin Chen, Rongxing He, Xiangxue Zhou, Yingming Chen, Xue Xu, Ronglan Zhu, Cheng Zhang
The objective of the present study was to characterize the muscle magnetic resonance imaging (MRI) features of a 1-year-old girl with merosin-deficient congenital muscular dystrophy type 1A (MDC1A). Beginning as an infant, this patient exhibited severe hypotonia and proximal weakness, as well as delays in developmental milestones. Her serum creatine kinase levels at 3 months, 8 months and 1 year were 2,959, 1,621 and 1,659 U/l, respectively. Brain MRI indicated symmetric, mild T1WI low, mild T2WI and FLAIR high radial patterns in the white matter of the Cornu posterius of the ventricular lateral...
August 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28778113/educational-and-vocational-goal-disruption-in-adolescent-and-young-adult-cancer-survivors
#15
Janine Vetsch, Claire E Wakefield, Brittany C McGill, Richard J Cohn, Sarah J Ellis, Natalie Stefanic, Susan M Sawyer, Brad Zebrack, Ursula M Sansom-Daly
OBJECTIVE: Cancer in adolescents and young adults (AYAs) can interrupt important developmental milestones. Absence from school and time lost from work, together with the physical impacts of treatment on energy and cognition, can disrupt educational and vocational goals. The purpose of this paper is to report on AYA cancer survivors' experiences of reintegration into school and/or work and to describe perceived changes in their educational and vocational goals. METHODS: AYAs recruited from seven hospitals in Australia, aged 15-26years and ≤24months post-treatment, were interviewed using the Psychosocial Adjustment to Illness Scale (PAIS)...
August 4, 2017: Psycho-oncology
https://www.readbyqxmd.com/read/28776829/early-sexual-initiation-and-mental-health-a-fleeting-association-or-enduring-change
#16
Rose Wesche, Derek A Kreager, Eva S Lefkowitz, Sonja E Siennick
The present research examined how the within-person association between sexual initiation and internalizing symptoms decays over time, using data with annual measurement occasions across adolescence (N = 1,789) and statistical models of within-person change. Sexual initiation was associated with increased levels of internalizing symptoms for early-initiating girls (ninth grade, approximately age 15), but not for on-time-initiating girls or for boys. The association between girls' early sexual initiation and internalizing symptoms declined precipitously over time...
September 2017: Journal of Research on Adolescence: the Official Journal of the Society for Research on Adolescence
https://www.readbyqxmd.com/read/28764307/infantile-alexander-disease-case-report-and-review-of-literature
#17
Soumyabrata Sarkar, Rupam Sinha, Amitabha Chakraborty, Tanya Khaitan, Biyas Bhowmik
Alexander Disease (AD) is an autosomal dominant leukodystrophy and occurs predominantly in infants and children. It usually results in death within ten years after onset. Among the four subtypes, infantile form comprises the most of affected individuals. It presents in the first two years of life, typically with progressive psychomotor deficiency, loss of developmental milestones, seizures, and pyramidal signs. Clinical and magnetic resonance image findings usually establish diagnosis of AD. Here, we present a case of Infantile AD with characteristic clinical and radiological features...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28763098/cross-species-comparison-of-behavioral-neurodevelopmental-milestones-in-the-common-marmoset-monkey-and-human-child
#18
Karla K Ausderau, Caitlin Dammann, Kathy McManus, Mary Schneider, Marina E Emborg, Nancy Schultz-Darken
The common marmoset (Callithrix jacchus) is an increasingly popular non-human primate species for developing transgenic and genomic edited models of neurological disorders. These models present an opportunity to assess from birth the impact of genetic mutations and to identify candidate predictive biomarkers of early disease onset. In order to apply findings from marmosets to humans, a cross-species comparison of typical development is essential. Aiming to identify similarities, differences, and gaps in knowledge of neurodevelopment, we evaluated peer-reviewed literature focused on the first 6 months of life of marmosets and compared to humans...
August 1, 2017: Developmental Psychobiology
https://www.readbyqxmd.com/read/28761970/-feeding-eating-and-swallowing-disorders-in-infants-and-children-an-overview
#19
REVIEW
C Schwemmle, C Arens
Swallowing is a dynamic process that requires more than 30 muscles in the recruitment/coordination of the lips, tongue, palate, pharynx, larynx and esophagus. The eating and swallowing procedure is learned in sensitive or critical periods: when a certain degree of maturation has been achieved, the appropriate stimulus permits a certain milestone of development to occur. The swallowing procedure occurs in three main stages oral, pharyngeal, and esophageal. Therefore, swallowing disorders may present in any, some, or all of these stages in addition to feeding problems...
July 31, 2017: HNO
https://www.readbyqxmd.com/read/28756581/predelivery-uterine-arteries-embolization-in-patients-affected-by-placental-implant-anomalies
#20
Francesco Giurazza, Giuseppe Albano, Liliana Valentino, Emiliano Schena, Tiziana Capussela, Maria Antonella Di Pasquale, Francesco Di Pietto, Rosaria De Ritis, Gennaro Nasti, Giuseppe Scognamiglio, Raffaella Niola
PURPOSE: The aim of this study is to report on a single center experience of managing patients affected by placenta previa major and/or accretism by embolizing uterine arteries immediately before the cesarean delivery to reduce blood loss and secondary the rate of hysterectomies. MATERIALS AND METHODS: Sixty-nine patients have been prospectively enrolled. Inclusion criteria were radiological diagnosis of placenta anomalies and risk factors for peri/postpartum hemorrhage...
July 29, 2017: La Radiologia Medica
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