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Long-term risk of epilepsy, cerebral palsy and attention-deficit/hyperactivity disorder in children affected by a threatened abortion in utero.

Int J Epidemiol 2021 Apr 13. Epub 2021 Apr 13.

Department of Clinical Epidemiology, Aarhus University, Aarhus, Denmark.

Background: The birth of a child affected by a threatened abortion (TAB) in utero is associated with autism spectrum disorder; association with other neurological disorders is unknown.

Methods: This nationwide registry-based cohort study included singletons live-born in Denmark (1979-2010), followed through 2016. The outcomes were epilepsy, cerebral palsy (CP) and attention-deficit/hyperactivity disorder (ADHD). Read More

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Genetic signatures of population bottlenecks, relatedness, and inbreeding highlight recent and novel conservation concerns in the Egyptian vulture.

PeerJ 2021 25;9:e11139. Epub 2021 Mar 25.

Department of Evolutionary Ecology, National Museum of Natural Sciences (MNCN), Spanish National Research Council (CSIC), Madrid, Spain.

The assessment of temporal variation in genetic features can be particularly informative on the factors behind demography and viability of wildlife populations and species. We used molecular methods to evaluate neutral genetic variation, relatedness, bottlenecks, and inbreeding in a declining population of Egyptian vulture () in central Spain. The results show that the genetic diversity remained relatively stable over a period of twelve years despite the decline in census and effective population sizes in the last decades. Read More

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The role of maternal effects on offspring performance in familiar and novel environments.

Heredity (Edinb) 2021 Apr 6. Epub 2021 Apr 6.

Division of Ecology & Evolution, Research School of Biology, The Australian National University, Canberra, ACT, Australia.

Maternal effects are an important evolutionary force that may either facilitate adaptation to a new environment or buffer against unfavourable conditions. The degree of variation in traits expressed by siblings from different mothers is often sensitive to environmental conditions. This could generate a Maternal-by-Environment interaction (M × E) that inflates estimates of Genotype-by-Environment effects (G × E). Read More

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Association and Familial Coaggregation of Type 1 Diabetes and Eating Disorders: A Register-Based Cohort Study in Denmark and Sweden.

Diabetes Care 2021 Apr 6. Epub 2021 Apr 6.

Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Solna, Sweden.

Objective: To ascertain the association and coaggregation of eating disorders and childhood-onset type 1 diabetes in families.

Research Design And Methods: Using population samples from national registers in Sweden ( = 2,517,277) and Demark ( = 1,825,920), we investigated the within-individual association between type 1 diabetes and eating disorders and their familial coaggregation among full siblings, half siblings, full cousins, and half cousins. On the basis of clinical diagnoses, we classified eating disorders into any eating disorder (AED), anorexia nervosa (AN) and atypical AN, and other eating disorder (OED). Read More

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Novel mycorrhizal cheating in a green orchid: Cremastra appendiculata depends on carbon from deadwood through fungal associations.

New Phytol 2021 Apr 6. Epub 2021 Apr 6.

Research Institute for Humanity and Nature, Kita-ku, Kyoto City, Kyoto, 603-8047, Japan.

To date, there has been no robust evidence for the exploitation of saprotrophic non-rhizoctonia fungi by green plants, although some fully mycoheterotrophic orchids are known to exploit them, and mycoheterotrophic evolution has probably occurred through intermediate mixotrophic stages. We investigated the physiological ecology of a fully mycoheterotrophic species Cremastra aphylla and its photosynthetic sister species Cremastra appendiculata, which putatively exploit saprotrophic fungi. Their mycorrhizal partners and ultimate nutritional sources were determined using molecular, stable isotopic, and radiocarbon analysis. Read More

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Scalp roof tiles.: A new diagnostic sign in neonates with Netherton Syndrome.

Saudi Med J 2021 Apr;42(4):454-456

From the Dermatology Department (Al-Khenaizan), King Abdulaziz Medical City-Ministry of National Guard; from the College of Medicine (Al-Khenaizan), King Saud Bin Abdulaziz University for Health Sciences; and from the Dermatology Department (Al-Mubarak), Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia.

Clinical Presentation: A 2-month-old baby boy, of full-term spontaneous vaginal delivery, presented to the dermatology outpatient clinic with generalized erythroderma, which had been noted since birth. Family history was positive for similar disease in his eldest sister, who died at 6 months of age without a diagnosis. On examination, the patient looked ill with generalized erythroderma, yet there were no signs of ectropion, eclabium, or deformed ears. Read More

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Direct and pleiotropic effects of the Masou Salmon Delta-5 Desaturase transgene in F1 channel catfish (Ictalurus punctatus).

Transgenic Res 2021 Apr 1;30(2):185-200. Epub 2021 Apr 1.

School of Fisheries, Aquaculture and Aquatic Sciences, Auburn University, 203 Swingle Hall, Auburn, AL, 36849, USA.

Channel catfish (Ictalurus punctatus) is the primary culture species in the US along with its hybrid made with male blue catfish, I. furcatus. In an effort to improve the nutritional value of channel catfish, the masou salmon Δ5-desaturase like gene (D5D) driven by the common carp beta-actin promoter (βactin) was inserted into channel catfish. Read More

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The role of breast milk fortifier in the post-discharge nutrition of preterm infants.

Br J Hosp Med (Lond) 2021 Mar 9;82(3):42-48. Epub 2021 Mar 9.

Lead Paediatric Dietitian, Dorset County Hospital, Dorchester, Dorset.

Infants born prematurely are often discharged from hospital before 37 weeks post-menstrual age. While breastfeeding will meet all the nutritional requirements of full-term infants, these preterm infants may need enhanced levels of protein, minerals and possibly energy to ensure optimum growth, bone mineralisation and neurological development. To meet these additional nutrient needs in the neonatal unit, it is currently recommended that multinutrient breast milk fortifier is added to maternal breast milk. Read More

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Speciation across the Tree of Life.

Biol Rev Camb Philos Soc 2021 Mar 26. Epub 2021 Mar 26.

Department of Ecology and Evolutionary Biology, University of Arizona, Tucson, AZ, 85721-0088, U.S.A.

Much of what we know about speciation comes from detailed studies of well-known model systems. Although there have been several important syntheses on speciation, few (if any) have explicitly compared speciation among major groups across the Tree of Life. Here, we synthesize and compare what is known about key aspects of speciation across taxa, including bacteria, protists, fungi, plants, and major animal groups. Read More

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Novel mutation in autosomal recessive bestrophinopathy in Japanese siblings.

Taiwan J Ophthalmol 2021 Jan-Mar;11(1):71-76. Epub 2021 Jan 7.

Department of Ophthalmology, Saitama Medical Center, Jichi Medical University, Saitama, Japan.

Purpose: Autosomal recessive bestrophinopathy (ARB) is a disease that results from the mutations in the gene. It is characterized by multifocal yellowish lipofuscin deposits, cystoid macular edema, and subretinal fluid. Among approximately 270 mutations, only 40 that include both heterozygous and homozygous mutations are associated with ARB. Read More

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January 2021

Parental age and birth defects: a sibling study.

Eur J Epidemiol 2021 Mar 24. Epub 2021 Mar 24.

CEPR, London, UK.

Higher parental age at childbearing has generated much attention as a potential risk factor for birth disorders; however, previous research findings are mixed. Existing studies have exploited variation in parental age across families, which is problematic because families differ not only in parental age but also in genetic and environmental factors. To isolate the effects of parental age, holding many genetic and environmental factors constant, we exploit the variation in parental age within families and compare outcomes for full siblings. Read More

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Bone marrow transplant using fludarabine-based reduced intensity conditioning regimen with in vivo T cell depletion in patients with Fanconi anemia.

Pediatr Transplant 2021 Mar 23:e14009. Epub 2021 Mar 23.

Yale New Haven Children's Hospital, New Haven, Connecticut, USA.

FA is the most common cause of inherited BMF syndromes. The only cure for BMF in FA remains HSCT. Due to DNA instability in FA, RIC has been used to decrease immediate and late complications of HSCT. Read More

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Mitochondrial 13513G>A Mutation With Low Mutant Load Presenting as Isolated Leber's Hereditary Optic Neuropathy Assessed by Next Generation Sequencing.

Front Neurol 2021 4;12:601307. Epub 2021 Mar 4.

Department of Ophthalmology, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, Hangzhou, China.

Mitochondrial 13513G>A mutation presenting as isolated Leber's hereditary optic neuropathy (LHON) without any extraocular pathology has not been reported in literature. We herein evaluate the clinical characteristics and heteroplasmy of m.13513G>A mutation manifesting as isolated LHON. Read More

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Biallelic RFC1 pentanucleotide repeat expansions in Greek patients with late-onset ataxia.

Clin Genet 2021 Mar 21. Epub 2021 Mar 21.

Neurogenetics Unit, 1st Department of Neurology, Eginitio University Hospital, National and Kapodistrian University of Athens, Athens, Greece.

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) has been recently linked to biallelic expansions of a pentanucleotide repeat in the replication factor C subunit 1 (RFC1) gene. Herein, we sought to investigate the presence of pathological RFC1 expansions in selected Greek patients with late-onset ataxia and delineate the phenotypic spectrum of genetically confirmed CANVAS in the Greek population. We screened genetically a total of 77 selected index patients, 67 originating from a cerebellar ataxia cohort and 10 from a hereditary neuropathy cohort. Read More

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Bardet-Biedl syndrome-7 () shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model.

Ophthalmic Genet 2021 Mar 17:1-14. Epub 2021 Mar 17.

Christiana Care Health System, Wilmington, Delaware, USA.

: To provide a detailed ophthalmic phenotype of two male patients with Bardet-Biedl Syndrome (BBS) due to mutations in the gene: Two brothers ages 26 (Patient 1, P1) and 23 (P2) underwent comprehensive ophthalmic evaluations over three years. Visual function was assessed with full-field electroretinograms (ffERGs), kinetic and chromatic perimetry, multimodal imaging with spectral domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF) with short- (SW) and near-infrared (NIR) excitation lights and adaptive optics scanning light ophthalmoscopy (AOSLO).: Both siblings had a history of obesity and postaxial polydactyly; P2 had diagnoses of type 1 Diabetes Mellitus, Addison's disease, high-functioning autism-spectrum disorder and -12D myopia. Read More

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Association of Preterm Birth With Prescription of Psychotropic Drugs in Adolescence and Young Adulthood.

JAMA Netw Open 2021 Mar 1;4(3):e211420. Epub 2021 Mar 1.

Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway.

Importance: Individuals born preterm have increased risk of mental health impairment compared with individuals born at term. The associations between preterm birth and attention-deficit/hyperactivity disorder and autism are well established; for depression, anxiety, psychotic and bipolar disorder, studies show divergent results.

Objective: To compare the prescription of psychotropic drugs in adolescence and young adulthood between those born preterm and those born at term. Read More

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Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 Microduplication.

Int J Mol Cell Med 2020 27;9(4):296-306. Epub 2021 Jan 27.

Human Genome and Stem-Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil .

17p13.3 microduplications are rare copy number variations (CNVs) associated with variable phenotypes, including facial dysmorphism, developmental delay, intellectual disability, and autism. Typically, when a recognized pathogenic CNV is identified, other genetic factors are not considered. Read More

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January 2021

Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report.

Ital J Pediatr 2021 Mar 8;47(1):54. Epub 2021 Mar 8.

Department of Cardiovascular, Respiratory, Nephrology, Anesthesiology and Geriatric Sciences, Sapienza University of Rome, Viale del Policlinico 155, 00161, Rome, Italy.

Background: Transcobalamin deficiency is a rare autosomal recessive inborn error of cobalamin transport (prevalence: < 1/1000000) which clinically manifests in early infancy.

Case Presentation: We describe the case of a 31 years old woman who at the age of 30 days presented with the classical clinical and laboratory signs of an inborn error of vitamin B metabolism. Family history revealed a sister who died at the age of 3 months with a similar clinical syndrome and with pancytopenia. Read More

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Genetic Relatedness, Emotional Closeness and Physical Aggression: A Comparison of Full and Half Sibling Experiences.

Eur J Psychol 2020 Mar 3;16(1):167-185. Epub 2020 Mar 3.

School of Psychology, University of Central Lancashire, Preston, United Kingdom.

Two studies investigated whether perceived closeness of siblings, and aggression between siblings, were associated with genetic relatedness. In following Hamilton's rule, we predicted that as the coefficient of relatedness between siblings increased, emotional closeness would also increase while conflict would decrease. Contrary to the predictions, we found no effect of genetic relatedness in Study 1 when we compared participants' (n = 240) ratings of emotional closeness; participants also reported significantly higher levels of conflict with full siblings than with half siblings. Read More

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Assessment of Cesarean Delivery and Neurodevelopmental and Psychiatric Disorders in the Children of a Population-Based Swedish Birth Cohort.

JAMA Netw Open 2021 Mar 1;4(3):e210837. Epub 2021 Mar 1.

Department of Clinical Neuroscience, Centre for Psychiatry Research, Karolinska Institutet, Stockholm, Sweden.

Importance: Recent studies suggest that cesarean delivery (CD) is associated with increased risk of neurodevelopmental disorders in children, although they were unable to control for indications for CD or familial confounding beyond full siblings.

Objective: To examine the association between CD and neurodevelopmental and psychiatric disorders in children.

Design, Setting, And Participants: This Swedish register-based cohort study included 1 179 341 term-birth singletons born between January 1, 1990, and December 31, 2003, and followed up through December 31, 2013. Read More

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The taxonomic status of (Chiroptera, Vespertilionidae) and new insights on the diversity of Caribbean .

Zookeys 2021 10;1015:145-167. Epub 2021 Feb 10.

Fundação Oswaldo Cruz, Fiocruz Mata Atlântica. R. Sampaio Correa s/n, Taquara, 22713-560, Rio de Janeiro, RJ, Brazil.

currently comprises two subspecies. The nominate subspecies () occurs on the Caribbean islands of Curaçao and Bonaire, Netherlands Antilles, whereas is known from mainland South America in northeastern Colombia and northwestern Venezuela. Our Maximum Likelihood phylogenetic analyses of cytochrome-b gene sequences recovered as a paraphyletic group, with and as non-sister lineages. Read More

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February 2021

Parents Who First Allowed Adolescents to Drink Alcohol in a Family Context During Spring 2020 COVID-19 Emergency Shutdowns.

J Adolesc Health 2021 04 10;68(4):816-818. Epub 2021 Feb 10.

Human Development & Family Studies, Utah State University, Logan, Utah.

Purpose: COVID-19 stay-at-home orders during Spring 2020 dramatically changed daily life and created significant challenges for families. We document levels and predictors of U.S. Read More

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The evolutionary history of manatees told by their mitogenomes.

Sci Rep 2021 Feb 11;11(1):3564. Epub 2021 Feb 11.

Departamento de Genética, Evolução, Microbiologia e Imunologia, Instituto de Biologia, Universidade Estadual de Campinas, Campinas, Brazil.

The manatee family encompasses three extant congeneric species: Trichechus senegalensis (African manatee), T. inunguis (Amazonian manatee), and T. manatus (West Indian manatee). Read More

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February 2021

Psychotropic and pain medication use in individuals with traumatic brain injury-a Swedish total population cohort study of 240 000 persons.

J Neurol Neurosurg Psychiatry 2021 Feb 9. Epub 2021 Feb 9.

Psychiatry, University of Oxford, Oxford, UK

Objective: To examine psychotropic and pain medication use in a population-based cohort of individuals with traumatic brain injury (TBI), and compare them with controls from similar backgrounds.

Methods: We assessed Swedish nationwide registers to include all individuals diagnosed with incident TBI between 2006 and 2012 in hospitals or specialist outpatient care. Full siblings never diagnosed with TBI acted as controls. Read More

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February 2021

The influence of adverse childhood experiences on internalizing and externalizing problems in early adulthood: Evidence of a gene × environment × sex interaction.

Child Abuse Negl 2021 Apr 3;114:104962. Epub 2021 Feb 3.

College of Criminology and Criminal Justice, Florida State University, 145 Convocation Way, 315 Eppes Hall, Tallahassee, FL, 32306-1273, USA; Center for Social and Humanities Research, King Abdulaziz University, Jeddah, Saudi Arabia. Electronic address:

Background: Although adverse childhood experiences (ACEs) have negative effects on subsequent wellbeing, questions remain regarding how and why they do so. Sex, environmental effects, and genetic influences may play a role in both one's exposure to ACEs as well as one's reactions to ACEs.

Objective: To understand the combined genetic and environmental influences on males' and females' exposure and reactions to ACEs, and to determine whether sex differences in offending and depressive symptoms were partially impacted by genetic influences. Read More

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Daratumumab for delayed RBC engraftment following major ABO mismatched haploidentical bone marrow transplantation.

Transfusion 2021 Apr 2;61(4):1041-1046. Epub 2021 Feb 2.

Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

Background: Recent case reports have described the efficacy of daratumumab to treat refractory pure red cell aplasia (PRCA) following major ABO mismatched allogeneic hematopoietic stem cell transplantation (HSCT). In this report, we describe the use of daratumumab as a first-line agent for treatment of delayed red blood cell (RBC) engraftment following a major ABO mismatched pediatric HSCT and provide a review of the literature.

Study Design And Materials: We report on a 14-year-old with DOCK8 deficiency who underwent a myeloablative, haploidentical bone marrow transplant from her major ABO mismatched sister (recipient O+, donor A+) for treatment of her primary immunodeficiency. Read More

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Kin Recognition in Guppies Uses Self-Referencing Based on Olfactory Cues.

Am Nat 2021 02 18;197(2):176-189. Epub 2020 Dec 18.

AbstractKin recognition plays an important role in social behavior and evolution, but the proximate mechanisms by which individuals recognize kin remain poorly understood. In many species, individuals form a "kin template" that they compare with conspecifics' phenotypes to assess phenotypic similarity-and, by association, relatedness. Individuals may form a kin template through self-inspection (i. Read More

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February 2021

Sister species diverge in modality-specific courtship signal form and function.

Ecol Evol 2021 Jan 30;11(2):852-871. Epub 2020 Dec 30.

University of California Davis Davis CA USA.

Understanding the relative importance of different sources of selection (e.g., the environment, social/sexual selection) on the divergence or convergence of reproductive communication can shed light on the origin, maintenance, or even disappearance of species boundaries. Read More

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January 2021

A Full Set of In Vitro Assays in Chitosan/Tween 80 Microspheres Loaded with Magnetite Nanoparticles.

Polymers (Basel) 2021 Jan 27;13(3). Epub 2021 Jan 27.

Departamento de Bioquímica y Medicina Molecular, Facultad de Medicina, Universidad Autónoma de Nuevo León, Monterrey 64460, Mexico.

Microspheres have been proposed for different medical applications, such as the delivery of therapeutic proteins. The first step, before evaluating the functionality of a protein delivery system, is to evaluate their biological safety. In this work, we developed chitosan/Tween 80 microspheres loaded with magnetite nanoparticles and evaluated cell damage. Read More

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January 2021

Loss of a co-twin at birth and subsequent risk of psychiatric disorders.

Elife 2021 Jan 28;10. Epub 2021 Jan 28.

Center of Public Health Sciences, Faculty of Medicine, University of Iceland, Reykjavík, Iceland.

Twins suffering a co-twin loss at birth have reported feelings of loneliness and grief while it remains unexplored if they suffer increased risk of psychiatric disorders. We contrasted rate of first-onset psychiatric disorders among all Swedish-born twins whose co-twin died within 60 days after birth between 1973 and 2011 (n = 787) to that of 3935 matched unexposed twins, 3935 matched singletons (both matched to the exposed twins by birth year, sex, and birth characteristics), and 880 full siblings of the exposed twins. During a median of 19-year follow-up, exposed twins were at increased risk of first-onset psychiatric disorders (hazard ratio = 1. Read More

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January 2021