keyword
https://read.qxmd.com/read/38537203/68ga-dotanoc-pet-ct-in-2-siblings-with-von-hippel-lindau-disease
#1
JOURNAL ARTICLE
Priyanka G B, Nishikant Avinash Damle, Ravindranath Reddy K, Nikhil Tandon, Priyanka Naranje, Devasenathipathy Kandasamy, Kishan Subudhi
Von Hippel-Lindau disease is a rare multisystem disorder that shows autosomal dominant inheritance. It is a cancer syndrome that is characterized by the development of a variety of benign and malignant tumors-CNS hemangioblastomas, retinal angiomas, endolymphatic sac tumors, renal cysts and tumors, pancreatic cysts and tumors, adrenal pheochromocytomas, and epididymal cystadenomas. Here we present the 68Ga-labeled DOTANOC scans of 2 siblings who show an interesting spectrum of findings consistent with Von Hippel-Lindau disease...
March 25, 2024: Clinical Nuclear Medicine
https://read.qxmd.com/read/38536636/a-direct-comparison-of-three-screening-methods-for-autism-spectrum-disorder-in-a-high-likelihood-sibling-population
#2
JOURNAL ARTICLE
Chui Mae Wong, Nurhafizah Mohd Zambri, Hui Hua Fan, Lily H S Lau, L Mary Daniel, Hwan Cui Koh
Targeted screening of children at increased likelihood of autism is recommended. However, autism screening tools are usually validated for use mainly in low-likelihood populations. This study compared the accuracy of the Modified Checklist for Autism in Toddlers, Revised with Follow-up (M-CHAT-R/F), the ASDetect app, and the Social Attention and Communication Surveillance, Revised (SACS-R). Siblings of autistic children underwent autism screening at 12, 18 and 30 months old. At each visit, caregivers completed the M-CHAT-R/F and ASDetect while trained nurses tested the siblings using the SACS-R...
March 27, 2024: Journal of Autism and Developmental Disorders
https://read.qxmd.com/read/38534926/haploidentical-hematopoietic-stem-cell-transplantation-for-patients-with-severe-aplastic-anemia-single-centre-experience
#3
Vered Stavi, Niranjan Khaire, Jeffrey H Lipton, Rajat Kumar
Severe aplastic anemia (SAA) is a life-threatening type of aplastic anemia for which allogeneic stem cell transplantation or immunosuppressive therapy are the principal treatment modalities. Only about 25-30% of patients have a matched sibling donor, and finding an unrelated donor in ethnic minorities is a challenge. The use of related haploidentical donor transplants in severe aplastic anemia is uncommon. We would like to report our experience with the first four patients who underwent haploidentical transplants for severe aplastic anemia...
February 26, 2024: Current Oncology
https://read.qxmd.com/read/38534367/primary-ciliary-dyskinesia-and-retinitis-pigmentosa-novel-rpgr-variant-and-possible-modifier-gene
#4
JOURNAL ARTICLE
Noelia Baz-Redón, Laura Sánchez-Bellver, Mónica Fernández-Cancio, Sandra Rovira-Amigo, Thomas Burgoyne, Rai Ranjit, Virginia Aquino, Noemí Toro-Barrios, Rosario Carmona, Eva Polverino, Maria Cols, Antonio Moreno-Galdó, Núria Camats-Tarruella, Gemma Marfany
We report a novel RPGR missense variant co-segregated with a familial X-linked retinitis pigmentosa (XLRP) case. The brothers were hemizygous for this variant, but only the proband presented with primary ciliary dyskinesia (PCD). Thus, we aimed to elucidate the role of the RPGR variant and other modifier genes in the phenotypic variability observed in the family and its impact on motile cilia. The pathogenicity of the variant on the RPGR protein was evaluated by in vitro studies transiently transfecting the mutated RPGR gene, and immunofluorescence analysis on nasal brushing samples...
March 16, 2024: Cells
https://read.qxmd.com/read/38533784/the-stability-and-change-of-wellbeing-across-the-lifespan-a-longitudinal-twin-sibling-study
#5
JOURNAL ARTICLE
Lianne P de Vries, Dirk H M Pelt, Meike Bartels
BACKGROUND: Wellbeing is relatively stable over the life span. However, individuals differ in this stability and change. One explanation for these differences could be the influence of different genetic or environmental factors on wellbeing over time. METHODS: To investigate causes of stability and change of wellbeing across the lifespan, we used cohort-sequential data on wellbeing from twins and their siblings of the Netherlands Twin Register (NTR) (total N = 46...
March 27, 2024: Psychological Medicine
https://read.qxmd.com/read/38533367/co-occurrence-of-otitis-media-with-effusion-and-another-environment-dependent-disease-selected-allergic-conditions
#6
JOURNAL ARTICLE
Oksana Wojas, Edyta Krzych-Fałta, Konrad Furmańczyk, Diana Dziewa-Dawidczyk, Bolesław Samoliński, Piotr Samel-Kowalik
INTRODUCTION: Otitis media eith effusion (OME) is an inflammatory condition of the middle ear that involves accumulation of sterile fluid or effusion in the tympanic cavity with the tympanic membrane intact. The pathophysiology of OME is undoubtedly multifactorial. AIM: To assess the co-occurrence of OME, allergic rhinitis, and asthma. MATERIAL AND METHODS: The study involved a group of 18,617 subjects aged 6-7 years, 13-14 years, or 20-44 years...
February 2024: Postȩpy Dermatologii i Alergologii
https://read.qxmd.com/read/38533211/the-dimensionality-of-the-conflict-resolution-styles-inventory-across-age-and-relationships
#7
JOURNAL ARTICLE
Tatiana Alina Trifan, Wim Meeus, Susan Branje
Close interpersonal conflicts between parents and children, marital or romantic partners, and between friends are common, and adjustment in youth and adults depends on how these conflicts are managed. While conflict management is important for relationships and adjustment, the structure of conflict management in adults or in youths has rarely been examined. Knowing how conflict management is structured, and whether this structure changes with age and relationships, is important to understanding what factors influence the development of conflict management skills, and how to intervene...
2024: Frontiers in Psychology
https://read.qxmd.com/read/38531849/an-analysis-of-the-accuracy-of-retrospective-birth-location-recall-using-sibling-data
#8
JOURNAL ARTICLE
Stephanie von Hinke, Nicolai Vitt
Many surveys ask participants to retrospectively record their location of birth. This paper examines the accuracy of such data in the UK Biobank using a sample of full siblings. Comparison of reported birth locations for siblings with different age gaps allows us to estimate the probabilities of household moves and of misreported birth locations. Our first contribution is to show that there are inaccuracies in retrospective birth location data, showing a sizeable probability of misreporting, with 28% of birth coordinates, 16% of local districts and 6% of counties of birth being incorrectly reported...
March 26, 2024: Nature Communications
https://read.qxmd.com/read/38531586/effectiveness-and-cost-effectiveness-of-a-sustainable-obesity-prevention-programme-for-preschool-children-delivered-at-scale-henry-health-exercise-nutrition-for-the-really-young-protocol-for-the-henry-iii-cluster-randomised-controlled-trial
#9
JOURNAL ARTICLE
Maria Bryant, Wendy Burton, Michelle Collinson, Adam Martin, Bethan Copsey, Dawn Groves-Williams, Alexis Foster, Thomas A Willis, Philip Garnett, Alicia O'Cathain
INTRODUCTION: One-fifth of children start school already overweight or living with obesity, with rates disproportionately impacting those living in the most deprived areas. Social, environmental and biological factors contribute to excess weight gain and programmes delivered in early years settings aim to support families to navigate these in order to prevent obesity. One of these programmes (Health, Exercise and Nutrition for the Really Young, HENRY) has been delivered in UK community venues (hereon named 'centres') in high deprivation areas since 2008 and aims to help families to provide a healthy start for their preschool children...
March 25, 2024: BMJ Open
https://read.qxmd.com/read/38531361/twin-study-dissects-cxcr3-memory-b-cells-as-non-heritable-feature-in-multiple-sclerosis
#10
JOURNAL ARTICLE
Florian Ingelfinger, Kirsten L Kuiper, Can Ulutekin, Lukas Rindlisbacher, Sarah Mundt, Lisa Ann Gerdes, Joost Smolders, Marvin M van Luijn, Burkhard Becher
BACKGROUND: In multiple sclerosis (MS), B cells are considered main triggers of the disease, likely as the result of complex interaction between genetic and environmental risk factors. Studies on monozygotic twins discordant for MS offer a unique way to reduce this complexity and reveal discrepant subsets. METHODS: In this study, we analyzed B cell subsets in blood samples of monozygotic twins with and without MS using publicly available data. We verified functional characteristics by exploring the role of therapy and performed separate analyses in unrelated individuals...
March 18, 2024: Med
https://read.qxmd.com/read/38530088/economic-returns-to-reproducing-parents-field-of-study
#11
JOURNAL ARTICLE
Jesper Fels Birkelund
Research on the influence of family background on college graduates' earnings has not considered the importance of the match between parents' and children's field of study. Using a novel design based on within-family comparisons, I examine long-term earnings returns to reproducing parents' field of study in Denmark. I find that individuals whose field of study matches that of a parent have earnings that are 2 percent higher than those of their siblings with college degrees in different fields, on average. Earnings returns to field inheritance are highest in the fields of law (9 percent), medicine (6 percent), and engineering (4 percent) and are driven mainly by income from self-employment...
March 26, 2024: British Journal of Sociology
https://read.qxmd.com/read/38529692/prenatal-and-postnatal-exposure-to-antibiotics-and-risk-of-food-allergy-in-the-offspring-a-nationwide-birth-cohort-study-in-south-korea
#12
JOURNAL ARTICLE
Jiyeon Oh, Myeongcheol Lee, Jaeyu Park, Hyeon Jin Kim, Seung Won Lee, Masoud Rahmati, Ai Koyanagi, Lee Smith, Min Seo Kim, Guillermo F López Sánchez, Elena Dragioti, Chanyang Min, Nikolaos G Papadopoulos, Youn Ho Shin, Jae Il Shin, Dong Keon Yon
BACKGROUND: There are only preliminary studies examining the associations of postnatal antibiotic exposure with food allergy in childhood, and the effect of antibiotic exposure in utero has not been resolved. Thus, we aimed to investigate the effect of prenatal and postnatal antibiotic exposure on the risk of food allergy in childhood. METHODS: Using the nationwide birth cohort in South Korea, all 3,163,206 infants (pairing mother; n = 2,322,735) born in South Korea between 2010 and 2017 were included in the analysis...
March 2024: Pediatric Allergy and Immunology
https://read.qxmd.com/read/38529501/comparative-study-of-enriched-dopaminergic-neurons-from-siblings-with-gaucher-disease-discordant-for-parkinsonism
#13
Ellen Hertz, Gani Perez, Ying Hao, Krystyna Rytel, Charis Ma, Martha Kirby, Stacie Anderson, Stephen Wincovitch, Kate Andersh, Tim Ahfeldt, Joel Blanchard, Yue Andy Qi, Grisel Lopez, Nahid Tayebi, Ellen Sidransky, Yu Chen
Inducible pluripotent stem cells (iPSCs) derived from patient samples have significantly enhanced our ability to model neurological diseases. Comparative studies of dopaminergic (DA) neurons differentiated from iPSCs derived from siblings with Gaucher disease discordant for parkinsonism provides a valuable avenue to explore genetic modifiers contributing to GBA1 -associated parkinsonism in disease-relevant cells. However, such studies are often complicated by the inherent heterogeneity in differentiation efficiency among iPSC lines derived from different individuals...
February 28, 2024: bioRxiv
https://read.qxmd.com/read/38528672/a-rare-case-of-neonatal-hypomagnesemia-with-secondary-hypocalcemia-caused-by-a-novel-homozygous-trpm6-gene-variant
#14
JOURNAL ARTICLE
Mohammed Shahab Uddin, AlZahra Y Alradhi, Fahad Mushbb N Alqathani, Othman Saleh Alessa, Ahmed Nawfal M Alshammari, Ratna Tripathy, Mohammed Ahmed Alomari
BACKGROUND Familial hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disorder (OMIM# 602014) caused by mutations in the gene encoding transient receptor potential melastatin 6 (TRPM6)) on chromosome 9q22, a channel involved in epithelial magnesium resorption. While a plethora of studies have delineated various clinical manifestations pertinent to this mutation, the literature is devoid of connections between TRPM6 mutations and bleeding diathesis, or sudden infant death syndrome (SIDS)...
March 26, 2024: American Journal of Case Reports
https://read.qxmd.com/read/38525518/comparative-analysis-of-conventional-in-vitro-fertilization-and-intracytoplasmic-sperm-injection-in-patients-with-polycystic-ovarian-syndrome-tubal-factor-infertility-and-unexplained-infertility-whose-partners-exhibit-normal-semen-parameters-a-retrospective
#15
JOURNAL ARTICLE
Sareh Ashourzadeh, Somayyeh Safari, Robabe Hosseinisadat, Raheleh Kafaeinezhad, Saeed Shokri, Sanaz Alaee
OBJECTIVE: This study compared the outcomes of conventional in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) in patients with polycystic ovarian syndrome (PCOS), tubal factor (TF) infertility, and unexplained infertility whose partners had normal semen parameters. METHODS: This retrospective study included 360 couples diagnosed with infertility involving PCOS (n=157), unexplained infertility (n=140), and TF infertility (n=63). Sibling oocytes were randomly assigned to undergo ICSI or conventional IVF insemination...
March 25, 2024: Clinical and Experimental Reproductive Medicine
https://read.qxmd.com/read/38524919/child-immunization-status-according-to-number-of-siblings-and-birth-order-in-85-low-and-middle-income-countries-a-cross-sectional-study
#16
JOURNAL ARTICLE
Francine S Costa, Larissa A N Silva, Bianca O Cata-Preta, Thiago M Santos, Leonardo Z Ferreira, Tewodaj Mengistu, Daniel R Hogan, Aluisio J D Barros, Cesar G Victora
BACKGROUND: Identification of unvaccinated children is important for preventing deaths due to infections. Number of siblings and birth order have been postulated as risk factors for zero-dose prevalence. METHODS: We analysed nationally representative cross-sectional surveys from 85 low and middle-income countries (2010-2020) with information on immunisation status of children aged 12-35 months. Zero-dose prevalence was defined as the failure to receive any doses of DPT (diphtheria-pertussis-tetanus) vaccine...
May 2024: EClinicalMedicine
https://read.qxmd.com/read/38523766/disordered-eating-behaviors-body-dissatisfaction-and-their-determinants-in-indian-adolescents-a-cross-sectional-observational-study
#17
JOURNAL ARTICLE
Debabrata Mohapatra, Harish K Pemde, Dinesh Kataria
OBJECTIVE: Although the prevalence of disordered eating is maximum in high-income countries, the most significant rise occurred in East Asia and South Asia over the last three decades. Body dissatisfaction and disordered eating behaviors (DEBs) are more common than full-blown eating disorders. The cognitive distortion leading to these manifestations mainly occurs during adolescence and early adulthood. In this study, we assess the burden of DEBs in a cohort of Indian adolescents and determine their correlation with body dissatisfaction, calorie intake, and clinicosocial determinants...
February 2024: Indian Journal of Psychiatry
https://read.qxmd.com/read/38520993/rare-homozygous-disease-associated-sequence-variants-in-children-with-spinal-muscular-atrophy-a-phenotypic-description-and-review-of-the-literature
#18
Limin Li, Manoj P Menezes, Melanie Smith, Robin Forbes, Stephan Züchner, Amber Burgess, Ian R Woodcock, Martin B Delatycki, Eppie M Yiu
5q-associated spinal muscular atrophy (SMA) is the most common autosomal recessive neurological disease. Depletion in functional SMN protein leads to dysfunction and irreversible degeneration of the motor neurons. Over 95 % of individuals with SMA have homozygous exon 7 deletions in the SMN1 gene. Most of the remaining 4-5 % are compound heterozygous for deletion and a disease-associated sequence variant in the non-deleted allele. Individuals with SMA due to bi-allelic SMN1 sequence variants have rarely been reported...
March 12, 2024: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/38520619/parenthood-desire-perceived-parenthood-stigma-and-barriers-to-achieving-parenthood-in-childless-sexual-minority-men
#19
JOURNAL ARTICLE
Samantha Yee, Amar A Mamone, Maryam Fatima, Maya Sharon-Weiner, Clifford L Librach
PURPOSE: To examine the parenthood desire, perceived parenthood stigma, and barriers to achieving parenthood among sexual minority men (SMM) in Canada, and to investigate factors influencing their fertility and assisted reproductive knowledge. METHODS: Data were collected from March to mid-June 2023 using a 78-item anonymous online survey. Childless cisgender SMM (age 18+) living in Canada were recruited from the LGBTQIA+ community outside the fertility care networks...
March 23, 2024: Journal of Assisted Reproduction and Genetics
https://read.qxmd.com/read/38519384/educational-outcomes-and-school-experiences-of-healthy-siblings-of-children-with-a-long-term-condition
#20
EDITORIAL
J Blamires, M Foster
No abstract text is available yet for this article.
March 21, 2024: Journal of Pediatric Nursing
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