33,690 results match your criteria sister families

Familial resemblance in mental health symptoms, social and cognitive vulnerability, and personality: A study of patients with depressive and anxiety disorders and their siblings.

J Affect Disord 2021 Jul 1;294:420-429. Epub 2021 Jul 1.

Amsterdam UMC, Vrije Universiteit, Psychiatry, Amsterdam Public Health research institute, Amsterdam, The Netherlands.

Background: Investigating siblings of probands with affective disorders enables the identification of psychopathology-related risk features. Leveraging data from an older adult sample, as compared to most previous sibling studies, enabled us to study more definitive clinical profiling across the lifespan. We examined prevalence of depressive/anxiety disorders in siblings, proband-sibling resemblance in psychopathology-related features, and whether unaffected siblings showed higher levels of these features than healthy controls. Read More

View Article and Full-Text PDF

SRSF10: an atypical splicing regulator with critical roles in stress response, organ development and viral replication.

RNA 2021 Jul 27. Epub 2021 Jul 27.

Université de Sherbrooke;

Serine/Arginine Splicing Factor 10 (SRSF10) is a member of the family of mammalian splicing regulators known as SR proteins. Like several of its SR siblings, the SRSF10 protein is composed of an RNA binding domain (RRM) and of arginine and serine-rich auxiliary domains (RS) that guide interactions with other proteins. The phosphorylation status of SRSF10 is of paramount importance for its activity and is subjected to changes during mitosis, heat-shock and DNA damage. Read More

View Article and Full-Text PDF

Short stature and combined immunodeficiency associated with mutations in RGS10.

Sci Signal 2021 Jul 27;14(693). Epub 2021 Jul 27.

Lung and Vascular Inflammation Section, Laboratory of Allergic Diseases, NIAID/NIH Bethesda, MD 20892, USA.

We report the clinical and molecular phenotype of three siblings from one family, who presented with short stature and immunodeficiency and carried uncharacterized variants in (c.489_491del:p.E163del and c. Read More

View Article and Full-Text PDF

Lymphoblastic lymphoma in two young siblings (coincidence or genetics?): two case reports.

J Med Case Rep 2021 Jul 28;15(1):375. Epub 2021 Jul 28.

Cancer Research Center, Tishreen University, Latakia, Syria.

Background: Non-Hodgkin lymphoma is the fourth most common malignancy in children, and it is not considered to be a hereditary disorder. However, it could affect members from the same family.

Case Presentation: We are presenting two cases of Caucasian female siblings who were diagnosed with mediastinal lymphoblastic lymphoma in the same year. Read More

View Article and Full-Text PDF

Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1.

BMC Med Genomics 2021 Jul 27;14(1):190. Epub 2021 Jul 27.

Department of Pain Pharmacogenetics, Kyoto University Graduate School of Medicine, Kyoto, Japan.

Background: Brachydactyly type A1 (BDA1) is an autosomal dominant disorder characterized by uniform shortening of the middle phalanges in all digits. It is associated with variants in the Indian Hedgehog (IHH) gene, which plays a key role in endochondral ossification. To date, heterozygous pathogenic IHH variants involving several codons, which are restricted to a specific region of the N-terminal active fragment of IHH, have been reported. Read More

View Article and Full-Text PDF

Elucidation of familial relationships using hair shaft proteomics.

Forensic Sci Int Genet 2021 Jul 17;54:102564. Epub 2021 Jul 17.

Department of Environmental Toxicology, University of California, Davis, USA; Forensic Science Program, University of California, Davis, USA.

This study examines the potential of hair shaft proteomic analysis to delineate genetic relatedness. Proteomic profiling and amino acid sequence analysis provide information for quantitative and statistically-based analysis of individualization and sample similarity. Protein expression levels are a function of cell-specific transcriptional and translational programs. Read More

View Article and Full-Text PDF

Recent ultra-rare inherited variants implicate new autism candidate risk genes.

Nat Genet 2021 Jul 26. Epub 2021 Jul 26.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

Autism is a highly heritable complex disorder in which de novo mutation (DNM) variation contributes significantly to risk. Using whole-genome sequencing data from 3,474 families, we investigate another source of large-effect risk variation, ultra-rare variants. We report and replicate a transmission disequilibrium of private, likely gene-disruptive (LGD) variants in probands but find that 95% of this burden resides outside of known DNM-enriched genes. Read More

View Article and Full-Text PDF

Nationwide evidence that education disrupts the intergenerational transmission of disadvantage.

Proc Natl Acad Sci U S A 2021 Aug;118(31)

Department of Psychology and Neuroscience, Duke University, Durham, NC 27708.

Despite overall improvements in health and living standards in the Western world, health and social disadvantages persist across generations. Using nationwide administrative databases linked for 2.1 million Danish citizens, we leveraged a three-generation approach to test whether multiple, different health and social disadvantages-poor physical health, poor mental health, social welfare dependency, criminal offending, and Child Protective Services involvement-were transmitted within families and whether education disrupted these statistical associations. Read More

View Article and Full-Text PDF

Mortality among family members of patients with amyotrophic lateral sclerosis - a Swedish register-based study.

Amyotroph Lateral Scler Frontotemporal Degener 2021 Jul 23:1-10. Epub 2021 Jul 23.

Unit of Integrative Epidemiology, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.

: To test two hypotheses: (1) partners of ALS patients have higher mortality due to outcomes related to psychological distress, and (2) parents and siblings of ALS patients have higher mortality due to diseases that co-occur with ALS. We performed a nationwide, register-based cohort study in Sweden. We included ALS-free partners, biological parents and full siblings ( = 11,704) of ALS patients, as well as ALS-free partners, biological parents and full siblings ( = 14,460,150) of ALS-free individuals, and followed them during 1961-2013. Read More

View Article and Full-Text PDF

Life with pediatric home ventilation: Expectations versus experience.

Pediatr Pulmonol 2021 Jul 26. Epub 2021 Jul 26.

Johns Hopkins Berman Institute of Bioethics, Baltimore, Maryland, USA.

Objectives: To explore the family experience of home ventilation through a comparison of anticipated home life changes with subsequent experiences.

Study Design: Guided interviews with parents across three states who chose home ventilation for their child within the last 5 years.

Patient-subject Selection: Purposive sampling of parents who chose home ventilation for their child within the last 5 years. Read More

View Article and Full-Text PDF

Slowly progressive behavioral frontotemporal dementia syndrome in a family co-segregating the C9orf72 expansion and a Synaptophysin mutation.

Alzheimers Dement 2021 Jul 26. Epub 2021 Jul 26.

Department of Neurology, University of Campinas (UNICAMP), Campinas, SP, Brazil.

Introduction: Synaptophysin, already related to X-linked intellectual disability, is expressed mainly in the central nervous system. Studies in humans indicate that the downregulation of synaptophysin could be involved in the development of dementia. Our study presents the first familial case of behavioral variant frontotemporal dementia associated with the co-occurrence of the repeat expansion in C9orf72 and a pathogenic variant in the SYP gene. Read More

View Article and Full-Text PDF

Another Twist in the Tale: Intrafamilial Phenotypic Heterogeneity in -Related Dystonia.

Mov Disord Clin Pract 2021 Jul 23;8(5):758-762. Epub 2021 Apr 23.

Department of Neuropediatrics, Centro Materno-Infantil do Norte Centro Hospitalar Universitário do Porto Porto Portugal.

Background: Mutations in the anoctamin 3 () gene cause autosomal dominant craniocervical dystonia (DYT24), presenting from childhood to mid-life. However, in the past years, the clinical spectrum of this disorder has widened. We present a family with heterogeneous presentation, exemplifying phenotypic diversity in DYT24. Read More

View Article and Full-Text PDF

Let's Talk About it: Discussing Retirement with Multiple Sources is Associated with Retirement Preparation in Young Adults.

Stanislav Treger

J Fam Econ Issues 2021 Jul 20:1-16. Epub 2021 Jul 20.

Morningstar, Inc., Chicago, IL USA.

Although young adults are interested in finance, their financial competence, especially about the topic of retirement, is fairly thin. With a large sample of members of Generation Z (ages 18-25,  = 1,311), I explored whether young adults talk about retirement with others; and the correlates between talking about retirement and retirement preparation. Participants reported whether they have spoken about retirement with nine sources: parents, siblings, other family members (non-parent; non-sibling), friends, significant others, co-workers, financial advisors, people on internet forums, and "other sources. Read More

View Article and Full-Text PDF

Association between parental attitudes towards their offspring's diet and children's actual dietary habits - The SENDO project.

Nutr Hosp 2021 Jul 26. Epub 2021 Jul 26.

Department of Food Sciences and Physiology. Facultad de Farmacia y Nutrición. Universidad de Navarra.

Introduction: the preschool stage is a critical period for teaching and modeling healthy habits to positively influence children's health and wellbeing throughout their lifetime.

Objectives: to evaluate the association between parental attitudes towards their offspring's dietary habits in Spanish children aged 4 to 7 years participating in the SEguimiento Del Niño para un Desarrollo Óptimo (SENDO) project.

Methods: we defined an index to measure information on parental attitudes towards their offspring's diet (0 to 8 points), and another one to measure children's actual dietary habits (0 to 19 points). Read More

View Article and Full-Text PDF

Fear of progression in parents of childhood cancer survivors: prevalence and associated factors.

J Cancer Surviv 2021 Jul 23. Epub 2021 Jul 23.

Department of Medical Psychology, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.

Purpose: Recent research demonstrated that fear of progression (FoP) is a major burden for adult cancer survivors. However, knowledge on FoP in parents of childhood cancer survivors is scarce. This study aimed to determine the proportion of parents who show dysfunctional levels of FoP, to investigate gender differences, and to examine factors associated with FoP in mothers and fathers. Read More

View Article and Full-Text PDF

Familial giant cell arteritis.

BMJ Case Rep 2021 Jul 23;14(7). Epub 2021 Jul 23.

The University of Iowa Department of Ophthalmology and Visual Sciences, Iowa City, Iowa, USA

This is a case report of 'familial giant cell arteritis' in three siblings from northwest India. This is the first case report of 'familial giant cell arteritis' in a non-Caucasian family. Read More

View Article and Full-Text PDF

Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity.

Genome Res 2021 Jul 23. Epub 2021 Jul 23.

Radboud University Medical Center

The number of de novo mutations (DNMs) in the human germline is correlated with parental age at conception, but this explains only part of the observed variation. We investigated whether there is a family-specific contribution to the number of DNMs in offspring. The analysis of DNMs in 111 dizygotic twin pairs did not identify a substantial family-specific contribution. Read More

View Article and Full-Text PDF

Kinship and the familial occurrence of skeletal developmental anomalies in the noble Swéerts-Sporck family (Bohemia, 17th to 20th centuries).

Int J Paleopathol 2021 Jul 20;34:163-167. Epub 2021 Jul 20.

Department of Anthropology and Human Genetics, Faculty of Science, Charles University, Viničná 1594/7, 128 00, Prague 2, Czech Republic. Electronic address:

Objective: To determine the degree of similarity of biologically related individuals according to the occurrence of skeletal developmental anomalies (SDA), to see whether these anomalies reflect documented biological relationships.

Material And Methods: The sample consists of the skeletal remains of seven members of the noble Swéerts-Sporck family from the 17th-20th centuries. Eighty-nine SDA were examined using morphological assessment, X-ray and CT. Read More

View Article and Full-Text PDF

Investigation of the hearing levels of siblings affected by a single GJB2 variant: Possibility of genetic modifiers.

Int J Pediatr Otorhinolaryngol 2021 Jul 12;149:110840. Epub 2021 Jul 12.

Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-ku, Tokyo, 152-8902, Japan; Medical Genetics Center, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-ku, Tokyo, 152-8902, Japan. Electronic address:

Objective: Variants in GJB2 can cause autosomal recessive deafness (DFNB1). There is evidence for genotype-phenotype correlations of GJB2 variants; however, several genotypes can cause varying levels of hearing loss likely attributable to differences in genetic or environmental background. As siblings share approximately 50% of their genetic background and usually have a common environmental background, analysis of phenotypes of siblings with a specific GJB2 variant may reveal factors relevant to phenotypic variation. Read More

View Article and Full-Text PDF

Hematopoietic Stem Cell Transplantation For Patients With Autosomal Recessive Complete Interferon Gamma Receptor 2 Deficiency: Experience In Oman.

Transplant Cell Ther 2021 Jul 19. Epub 2021 Jul 19.

Department of, Hematology, Sultan Qaboos University Hospital, Muscat, Oman; Apollo Hospital, Muscat, Oman. Electronic address:

Autosomal recessive complete interferon- gamma receptor-2 (IFN-γR2) deficiency is a rare potentially fatal primary immune deficiency that predisposes to disseminated mycobacterial disease.Hematopoietic stem cell transplantation (HSCT) is currently the only curative treatment. Few patients had been reported so far. Read More

View Article and Full-Text PDF

"COVID Toes" in Three Siblings.

Henry M Feder

Pediatr Infect Dis J 2021 Jul 20. Epub 2021 Jul 20.

From the Connecticut Children's Medical Center and University of Connecticut Health Center, Hartford and Farmington, Connecticut.

Dermatologists reported an outbreak of pernio (red to purple swollen painful toes) during the COVID-19 pandemic. Most subjects lacked positive CoV-19 polymerase chain reaction (PCR) or antibodies or a preceding illness. The dermatologists termed the illness "COVID toes. Read More

View Article and Full-Text PDF

Extracurricular Physical Activities and the Condition of Being an Only Child as a Conditioning Factor in the Psychomotor Development of 5-Year-Old Children.

Front Pediatr 2021 5;9:684418. Epub 2021 Jul 5.

Degree in Early Childhood Education and Primary Education, Faculty of Education, International University of la Rioja, Madrid, Spain.

In early childhood education, there is a great interdependence among motor, affective, and cognitive development. A better understanding of psychomotor development and its variables by pediatricians and those who oversee educational tasks at this stage of development, such as teachers, psychologists, counselors, and parents themselves, can influence the design of educational intervention proposals. To that effect, the present study aims to analyze the influence of some family characteristics such as the condition of being an only child or having siblings and whether the child carries out extracurricular activities linked to physical activities and sports. Read More

View Article and Full-Text PDF

A single-amino-acid in-frame deletion in CYP17A1 results in combined 17-hydroxylase and 17,20-lyase deficiency in an Iranian family despite the protein mutation site.

Hum Genome Var 2021 Jul 21;8(1):31. Epub 2021 Jul 21.

Department of Endocrinology, School of Medicine, Kazerun Branch, Islamic Azad University, Kazerun, Iran.

In this study, we detected homozygous mutations in the CYP17A1 gene (NM_000102.4:c.1053_1055delCCT; p. Read More

View Article and Full-Text PDF

Neonatal polycystic kidney disease: a novel variant.

BMJ Case Rep 2021 Jul 21;14(7). Epub 2021 Jul 21.

Obstetrics and Gynaecology, Royal College of Surgeons in Ireland, Dublin, Ireland.

Polycystic kidney disease (PKD) is a condition typified by multiple renal cysts and renal enlargement. Classification is usually determined by mode of inheritance-autosomal dominant PKD (ADPKD) or autosomal recessive PKD (ARPKD). ARPKD frequently presents in fetal life, but here we report a rare case of a family with two siblings diagnosed with ADPKD manifesting in utero with novel genetic findings. Read More

View Article and Full-Text PDF

Differential in infant, childhood and under-five death clustering among the empowered and non-empowered action group regions in India.

BMC Public Health 2021 Jul 21;21(1):1436. Epub 2021 Jul 21.

International Institute for Population Sciences, Mumbai, 400088, India.

Background: With 8,82,000 deaths in the under-five period, India observed varied intra-state and inter-regional differences across infant and child mortality in 2018. However, scarce literature is present to capture this unusual concentration of mortality in certain families by examining the association of the mortality risks among the siblings of those families along with various unobserved characteristics of the mother. Looking towards the regional and age differential in mortality, this paper attempts to provide evidence for the differential in mortality clustering among infants (aged 0-11 months), children (12-59 months) and under-five (0-59 months) period among mothers from the Empowered Action Group (EAG) and non-EAG regions of India. Read More

View Article and Full-Text PDF

Data profile: Expanding the research potential of the Canadian Health Measures Survey using paired respondent data.

Health Rep 2021 07;32(7):3-10

Social Statistics Methods Division, Statistics Canada, Ottawa, Ontario.

The family environment is an important influence on the health and behaviours of children. Few large-scale datasets include detailed and objectively measured health data about multiple individuals from the same family who are living in the same household. The Canadian Health Measures Survey (CHMS) is a repeating, cross-sectional survey that selects two members of a household-a child and a randomly selected older member of the household aged 12 to 79 years-with at least one child aged 3 to 11 years in residence. Read More

View Article and Full-Text PDF

A higher-level nuclear phylogenomic study of the carrot family (Apiaceae).

Am J Bot 2021 Jul 21;108(7):1252-1269. Epub 2021 Jul 21.

Royal Botanic Gardens Kew, Richmond, Surrey, TW9 3AE, UK.

Premise: The carrot family (Apiaceae) comprises 466 genera, which include many well-known crops (e.g., aniseed, caraway, carrots, celery, coriander, cumin, dill, fennel, parsley, and parsnips). Read More

View Article and Full-Text PDF

Visual and ocular findings in a family with X-linked cone dysfunction and protanopia.

Ophthalmic Genet 2021 Jul 21:1-7. Epub 2021 Jul 21.

Department of Paediatric Ophthalmology, Strabismus, Electrophysiology and Ocular Oncology, St. Erik Eye Hospital, Stockholm, Sweden.

: Bornholm eye disease (BED) is a rare X-linked cone dysfunction disorder with high myopia, amblyopia, and color vision defects. Visual and ocular outcomes in a family where two of five siblings had molecularly confirmed BED are reported. Ophthalmological assessments included best-corrected visual acuity (BCVA), color vision test, and optical coherence tomography (OCT). Read More

View Article and Full-Text PDF