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Fatal Pandoraea nosoerga infection after combined liver-lung transplantation for cystic fibrosis: a recontamination by the pre-transplantation strain.

Eur J Clin Microbiol Infect Dis 2021 Apr 8. Epub 2021 Apr 8.

IRD, APHM, MEPHI, IHU-Méditerranée Infection, Aix Marseille Univ, 19-21 boulevard Jean Moulin, 13385, Marseille CEDEX 05, France.

A 26-year-old girl with a longstanding colonization by Pandoraea nosoerga underwent liver-lung transplantation for cystic fibrosis (CF) in 2018. Her brother also suffering from CF was also colonized by P. nosoerga. Read More

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Healthier together: a pilot study on the implementation of a novel family centered pediatric obesity prevention program.

J Osteopath Med 2021 Mar 22. Epub 2021 Mar 22.

College of Osteopathic Medicine, Touro University California, Vallejo, CA, USA.

Context: With pediatric obesity rates reaching epidemic scales across the United States, innovative research to identify key factors for successful implementation of obesity intervention programs is increasingly paramount. Project Healthy Attitudes Produces Positive Youth (HAPPY) is a family centered pediatric obesity prevention program targeting elementary age children and their families.

Objectives: To determine whether Project HAPPY interventions emphasizing social networks were successful. Read More

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GIOVANNI AND ABDON PAMICH – HISTORY AS DESTINY OR “EMPTY PLACE” IN RIJEKA MEDICAL HISTORIOGRAPHY

Acta Med Hist Adriat 2021 12;18(2):291-316

Učiteljski fakultet u Rijeci. E-mail:

Medical history of the city of Rijeka is a rich treasure trove of events, celebrities and valuable innovations in the field of healthcare. The historical development of Rijeka was largely determined by her geopolitical position as a border town with a multicultural population, marked by strong conflicts of interest and numerous identity turmoil. The great exodus of the domicile population of Italian nationality after World War II has significantly changed the social picture of the city. Read More

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December 2021

Mothers' experiences of parenting and everyday life of children born at 23 weeks of gestation - a qualitative descriptive study.

BMC Pediatr 2021 Jan 23;21(1):48. Epub 2021 Jan 23.

Department of Psychology and Speech-Language Pathology, University of Turku, Turku, Finland.

Background: Surviving children born at 23 gestational weeks are a growing population. As many of these children face developmental challenges during childhood and adolescence, more knowledge is needed about the everyday life of this group. The parental perspective is important, as developmental problems often pose a challenge for the parents. Read More

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January 2021

Towards an integrated account of the development of self-regulation from a neurocognitive perspective: A framework for current and future longitudinal multi-modal investigations.

Dev Cogn Neurosci 2020 10 25;45:100829. Epub 2020 Jul 25.

Department of Interdisciplinary Social Science, Utrecht University, Utrecht, the Netherlands.

Self-regulation is the ability to monitor and modulate emotions, behaviour, and cognition in order to adapt to changing circumstances. Developing adequate self-regulation is associated with better social coping and higher educational achievement later in life; poor self-regulation has been linked to a variety of detrimental developmental outcomes. Here, we focus on the development of neurocognitive processes essential for self-regulation. Read More

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October 2020

Incomplete penetrance in familial Alzheimer's disease with PSEN1 Ala260Gly mutation.

Neurol Sci 2020 Aug 23;41(8):2263-2266. Epub 2020 Apr 23.

Department of Neuroscience, Psychology, Drug Research and Child Health and Centro di Ricerca, University of Florence, Florence, Italy.

Presenilin1 (PSEN1) gene is the most common known genetic cause of early-onset familial Alzheimer's disease. We describe an Italian family with the known p.Ala260Gly mutation in PSEN1 gene. Read More

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A novel mutation in segregates with amyotrophic lateral sclerosis in a large family with early onset and fast progression.

Amyotroph Lateral Scler Frontotemporal Degener 2020 05 7;21(3-4):280-285. Epub 2020 Apr 7.

The Genomic Research Laboratory for Neurodegeneration, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

To identify the genetic background of ALS segregating in a large Bedouin family in Israel. Exome sequencing was carried out on three siblings in a family segregating ALS, two affected and one without neurological symptoms. Filtering for causative variants and for modifiers was carried out. Read More

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Editorial: Expanding Notions of Networks Within Child and Adolescent Psychiatry.

Authors:
S Evelyn Stewart

J Am Acad Child Adolesc Psychiatry 2020 07 20;59(7):805-807. Epub 2020 Jan 20.

University of British Columbia, Vancouver, Canada; British Columbia Children's Hospital, Vancouver, Canada. Electronic address:

Child and adolescent psychiatry trainees are traditionally offered "pearls of wisdom" emphasizing, among other things, the value of collegial peer networks such as that found within the American Academy of Child and Adolescent Psychiatry (AACAP). The article in this issue by Cervin et al. demonstrates the value of an admittedly different type of network. Read More

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Early Childhood Development Caregiver Training and Neurocognition of HIV-Exposed Ugandan Siblings.

J Dev Behav Pediatr 2020 04;41(3):221-229

Department of Mental Health, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD.

Objective: Early childhood development (ECD) programs can enhance neurocognitive development outcomes through caregiver training. This study explores whether school-age siblings benefited from a program provided to HIV-infected caregivers and their preschool-aged target children.

Methods: Siblings of target 2- to 3-year-old children in ECD intervention households were evaluated at school age (5-12 years) on neurocognitive outcomes with the Kaufman Assessment Battery for Children (KABC), computerized Test of Variables of Attention, Behavior Rating Inventory for Executive Function (BRIEF; parent), and attention-deficit/hyperactivity disorder rating inventory (ADHD-R)-IV (parent). Read More

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Honest signaling and the double counting of inclusive fitness.

Evol Lett 2019 Oct 4;3(5):428-433. Epub 2019 Sep 4.

Department of Zoology University of Oxford Oxford OX1 3PS United Kingdom.

Inclusive fitness requires a careful accounting of all the fitness effects of a particular behavior. Verbal arguments can potentially exaggerate the inclusive fitness consequences of a behavior by including the fitness of relatives that was not caused by that behavior, leading to error. We show how this "double-counting" error can arise, with a recent example from the signaling literature. Read More

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October 2019

Long-term cognitive outcomes in tuberous sclerosis complex.

Dev Med Child Neurol 2020 03 19;62(3):322-329. Epub 2019 Sep 19.

Department of Child & Adolescent Psychiatry, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.

Aim: To investigate the interdependence between risk factors associated with long-term intellectual development in individuals with tuberous sclerosis complex (TSC).

Method: The Tuberous Sclerosis 2000 Study is a prospective longitudinal study of individuals with TSC. In phase 1 of the study, baseline measures of intellectual ability, epilepsy, cortical tuber load, and mutation were obtained for 125 children (63 females, 62 males; median age=39mo). Read More

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A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.

Neuromuscul Disord 2019 09 21;29(9):693-697. Epub 2019 Aug 21.

Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.

We report a novel mitochondrial m.4414T>C variant in the mt-tRNA (MT-TM) gene in an adult patient with chronic progressive external ophthalmoplegia and myopathy whose muscle biopsy revealed focal cytochrome c oxidase (COX)-deficient and ragged red fibres. The m. Read More

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September 2019

Brief Screening Measures Identify Risk for Psychological Difficulties Among Children with Sickle Cell Disease.

J Clin Psychol Med Settings 2020 12;27(4):651-661

Department of Psychological & Brain Sciences, Washington University, Campus Box 1125, St. Louis, MO, USA.

Children with sickle cell disease (SCD) experience disproportionately high rates of psychological problems. Our goal was to examine the clinical utility of psychological screening measures to identify children with such problems in medical settings. Caregivers completed screening measures assessing social-emotional problems, ADHD symptoms, executive dysfunction, and health-related quality of life for children with SCD (receiving either chronic blood transfusion or hydroxyurea) and their siblings. Read More

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December 2020

Simultaneous development of Kawasaki disease in identical twins: A case report.

J Family Med Prim Care 2019 Apr;8(4):1481-1482

Department of Paediatric Cardiology, Kerala Institute of Medical Sciences, Trivandrum, Kerala, India.

Kawasaki disease (KD) is the most common vasculitis in childhood that affects medium-sized arteries, particularly coronary arteries. The etiology remains unknown; however, many studies suggest that specific genetic factors and/or some infectious agents underlie the onset. Here, we report a set of identical twin boys who simultaneously developed KD, emphasizing the genetic component of etiology. Read More

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Parental habituation to human disturbance over time reduces fear of humans in coyote offspring.

Ecol Evol 2018 Dec 11;8(24):12965-12980. Epub 2018 Dec 11.

Committee on Evolutionary Biology University of Chicago Chicago Illinois.

A fundamental tenet of maternal effects assumes that maternal variance over time should have discordant consequences for offspring traits across litters. Yet, seldom are parents observed across multiple reproductive bouts, with few studies considering anthropogenic disturbances as an ecological driver of maternal effects. We observed captive coyote () pairs over two successive litters to determine whether among-litter differences in behavior (i. Read More

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December 2018

Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development.

Neuropediatrics 2018 12 30;49(6):379-384. Epub 2018 Aug 30.

Division of Pediatric Neurology, Department of Pediatrics, University Hospital Cologne, Cologne, Germany.

Mutations in are associated with a heterogeneous clinical spectrum including epilepsy and autism. Here, we have identified a peculiar phenotype associated with vaccination related exacerbations of ataxia. We report the first family with three individuals affected by -associated episodic ataxia (EA) with impaired speech development. Read More

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December 2018

Analysis of novel alleles of brother of tout-velu, the drosophila ortholog of human EXTL3 using a newly developed FRT42D ovo chromosome.

Genesis 2016 Nov 3;54(11):573-581. Epub 2016 Oct 3.

Department of Developmental and Cell Biology, University of California Irvine, Irvine, CA, 92697.

The FLP/FRT system permits rapid phenotypic screening of homozygous lethal mutations in the context of a viable mosaic fly. Combining this system with ovo dominant female-sterile transgenes enables efficient production of embryos derived from mutant germline clones lacking maternal contribution from a gene of interest. Two distinct sets of FRT chromosomes, carrying either the mini-white (w ), or rosy (ry ) and neomycin (neo ) transgenes are in common use. Read More

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November 2016

Kindler's Syndrome: A Tale of Two Siblings.

Indian J Dermatol 2016 Jul-Aug;61(4):468

Department of Dermatology, KPC Medical College and Hospital, Kolkata, West Bengal, India.

Kindler's syndrome (KS) is a rare inherited skin disease characterized by acral blistering, photosensitivity, progressive poikiloderma, and cutaneous atrophy along with different types of mucosal involvement. We hereby report KS in two siblings. The case is being reported for its rarity and for emphasizing the importance of considering this condition in the differential diagnosis of disorders that may cause blistering, cutaneous atrophy, and/or poikilodermatous skin changes. Read More

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Resilience research in schizophrenia: a review of recent developments.

Curr Opin Psychiatry 2016 May;29(3):218-23

aDepartment of Neuropsychiatry, Keio University School of Medicine, Tokyo, Japan bDepartment of Psychiatry, Psychotherapy and Psychosomatics, Medical University Innsbruck, Innsbruck, Austria.

Purpose Of Review: The concept of resilience is expected to be relevant in understanding the heterogeneous outcomes associated with schizophrenia. We reviewed recent developments in clinical studies focusing on the biological and psychological aspects of resilience in this population. We aimed to clarify current concepts of resilience in the field, elucidate gaps in the literature, and provide recommendations for future research. Read More

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Discordant Transient Extreme Hyperleukocytosis in Dichorionic Diamniotic Twins: The Role of the Sex?

J Pediatr Hematol Oncol 2016 Apr;38(3):246-7

Department of Neonatology, Isala, Zwolle, The Netherlands.

Although a leukemoid reaction is a well-recognized phenomenon in the neonatal intensive care unit, transient extreme hyperleukocytosis in premature infants is rare. The exact mechanism is still unclear and several hypotheses are documented in the literature. In this case report, we describe 2 dichorionic diamniotic premature twins, of whom the 2 girls had extreme hyperleukocytosis, whereas their siblings did not, emphasizing the potentially important role of the sex in this phenomena. Read More

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[Takeki Kudoh's Research on Modern Medical Science and Japanized Confucianism in Colonial Korea (Chosŏn)].

Uisahak 2015 Dec;24(3):659-708

Department of Philosophy, Yeungnam University, Kyeongsan, Korea.

This paper reviews Kudoh Takeki's activity critically during the colonial Korea period, regarding his research on Medical Science and Japanized Confucianism. He managed 'The Seoul Gynecological Hospital'for approximately 35 years in the Chosŏn period as a Japanese resident with Chosŏn status. He published medical knowledge about obstetrics through more than 280 articles, and attempted to improve the hygiene and health of 'Korean Women'. Read More

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December 2015

Myofibroblasts.

Authors:
Boris Hinz

Exp Eye Res 2016 Jan 17;142:56-70. Epub 2015 Jul 17.

Laboratory of Tissue Repair and Regeneration, Matrix Dynamics Group, Faculty of Dentistry, University of Toronto, 150 College Street, FitzGerald Building, Room 234, Toronto, M5S 3E2 Ontario, Canada. Electronic address:

Myofibroblasts are activated in response to tissue injury with the primary task to repair lost or damaged extracellular matrix. Enhanced collagen secretion and subsequent contraction - scarring - are part of the normal wound healing response and crucial to restore tissue integrity. Due to myofibroblasts ability to repair but not regenerate, accumulation of scar tissue is always associated with reduced organ performance. Read More

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January 2016

Misdirected horizontal saccades in pan-cerebellar atrophy.

J Neurol Sci 2015 Aug 3;355(1-2):125-30. Epub 2015 Jun 3.

Cole Eye Institute, Cleveland Clinic, Cleveland, OH, United States.

Saccadic dysmetria is a sensitive marker of cerebellar dysfunction. We discovered misdirected horizontal saccades due to cross-coupled orthogonal (vertical) saccades in siblings with pan-cerebellar atrophy. There was an upward drift in vertical eye position after each cross-coupled downward saccade. Read More

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Increased neural responses to reward in adolescents and young adults with attention-deficit/hyperactivity disorder and their unaffected siblings.

J Am Acad Child Adolesc Psychiatry 2015 May 2;54(5):394-402. Epub 2015 Mar 2.

Radboud University Medical Center; Karakter, Child and Adolescent Psychiatry University Center Nijmegen.

Objective: Attention-deficit/hyperactivity disorder (ADHD) is a heritable neuropsychiatric disorder associated with abnormal reward processing. Limited and inconsistent data exist about the neural mechanisms underlying this abnormality. Furthermore, it is not known whether reward processing is abnormal in unaffected siblings of participants with ADHD. Read More

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Neighborhood Disadvantage and Parenting: Behavioral Genetics Evidence of Child Effects.

Int J Offender Ther Comp Criminol 2016 Oct 19;60(13):1549-68. Epub 2015 Apr 19.

Kyonggi University, Suwon-si, Gyonggi-do, South Korea

The criminological literature has a long tradition of emphasizing the socialization effects that parents have on children. By contrast, evidence from behavioral genetics research gives precedence to child effects on parental management techniques over parental effects on children's outcomes. Considering these diverging lines of scholarship and literature, the current study explores a novel hypothesis that child effects on parenting may be conditioned by the level of the disadvantage of the neighborhood in which the child's family resides. Read More

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October 2016

A Nationally-Representative Epidemiological and Risk Factor Assessment of Child Mental Health in Vietnam.

Int Perspect Psychol 2014 ;3(3):139-153

Vanderbilt University.

As part of the global mental health movement's focus on identifying and reducing international disparities, this study conducted the first nationally representative child mental health epidemiological survey in Vietnam. We assessed as risk/protective factors several family social structure characteristics (e.g. Read More

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January 2014

Differentiation of true anophthalmia from clinical anophthalmia using neuroradiological imaging.

World J Radiol 2014 Jul;6(7):515-8

Ali Riza Cenk Celebi, Ophthalmology Clinic, Republic of Turkey Ministry of Health, Nigde State Hospital, Nigde 51000, Turkey.

Anophthalmia is a condition of the absence of an eye and the presence of a small eye within the orbit. It is associated with many known syndromes. Clinical findings, as well as imaging modalities and genetic analysis, are important in making the diagnosis. Read More

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Central precocious puberty in a girl and early puberty in her brother caused by a novel mutation in the MKRN3 gene.

J Clin Endocrinol Metab 2014 Apr 17;99(4):E647-51. Epub 2014 Jan 17.

Division of Endocrinology, Metabolism, and Diabetes, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, GR-11527 Athens, Greece.

Context: Central precocious puberty (CPP), defined as the development of secondary sex characteristics prior to age 8 years in girls and 9 years in boys, results from the premature activation of the hypothalamic-pituitary-gonadal axis. Mutations in the imprinted gene MKRN3 have been recently implicated in familial cases of CPP.

Objective: The objective of the study was to uncover the genetic cause of CPP in a family with two affected siblings. Read More

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The teeth and faces of twins: providing insights into dentofacial development and oral health for practising oral health professionals.

Aust Dent J 2014 Jun 2;59 Suppl 1:101-16. Epub 2013 Oct 2.

School of Dentistry, The University of Adelaide, South Australia, Australia.

The continuing studies of the teeth and faces of Australian twins and their families in the Craniofacial Biology Research Group in the School of Dentistry at the University of Adelaide began 30 years ago. Three main cohorts of twins have been recruited, enabling various objectives and specific hypotheses to be addressed about the roles of genetic, epigenetic and environmental influences on human dentofacial growth and development, as well as oral health. This paper highlights some key findings arising from these studies, emphasizing those of direct relevance to practising oral health professionals. Read More

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A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.

Hum Mol Genet 2014 Jan 10;23(2):418-33. Epub 2013 Sep 10.

Greenwood Genetic Center, Greenwood, SC 29646, USA.

'Salt & Pepper' syndrome is an autosomal recessive condition characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation. High-density SNP array analysis performed on siblings first described with this syndrome detected four shared regions of loss of heterozygosity (LOH). Whole-exome sequencing narrowed the candidate region to chromosome 2p11. Read More

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January 2014