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Neurol Ther 2022 May 21. Epub 2022 May 21.

Department of Neuroanatomy, Institute of Anatomy and Cell Biology, University of Heidelberg, Im Neuenheimer Feld 307, 69120, Heidelberg, Germany.

Several recent epidemiological studies attempted to identify risk factors for Alzheimer's disease. Age, family history, genetic factors (APOE genotype, trisomy 21), physical activity, and a low level of schooling are significant risk factors. In this review, we summarize the known psychosocial risk factors for the development of Alzheimer's disease in patients with Down syndrome and their association with neuroanatomical changes in the brains of people with Down syndrome. Read More

Epileptic Disord 2022 Apr;24(2):249-273

Danish Epilepsy Centre, Dianalund, Denmark.

Although epilepsy as a comorbidity in neurodegenerative disorders is increasingly recognized, its incidence is still underestimated and the features of epilepsy in the different neurodegenerative conditions are still poorly defined. Improved health care, resulting in increased longevity, will unavoidably lead to an increment of epilepsy cases in the elderly. Thus, it is conceivable to expect that neurologists will have to deal with these comorbid conditions to a growing extent in the future. Read More

Hum Reprod 2022 May 20. Epub 2022 May 20.

Reproductive Medical Center, International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, China.

Study Question: Is a dual ovulation trigger with a combination of GnRH agonist (GnRHa) and hCG superior to single hCG and/or single GnRHa trigger in improving treatment outcomes in advanced-age women (aged ≥ 35 years) undergoing IVF/ICSI treatment?

Summary Answer: Co-administration of GnRHa and hCG as a dual trigger increases the number of good-quality embryos but it is not associated with a higher number of oocytes retrieved, compared with single hCG or GnRHa trigger.

What Is Known Already: Many studies have demonstrated that a dual trigger has positive impact on oocyte maturation, retrieval rate and pregnancy rate without increasing the risk of ovarian hyperstimulation syndrome (OHSS) in some groups of IVF patients, when compared with single hCG trigger. Few studies have however been conducted to compare a dual trigger with a single GnRHa trigger, and insufficient evidence exists to support which trigger can achieve the best outcomes in IVF patients aged ≥35 years. Read More

Front Aging Neurosci 2022 3;14:750629. Epub 2022 May 3.

Center for Systems and Therapeutics, Gladstone Institutes, San Francisco, CA, United States.

Repeat diseases, such as fragile X syndrome, myotonic dystrophy, Friedreich ataxia, Huntington disease, spinocerebellar ataxias, and some forms of amyotrophic lateral sclerosis, are caused by repetitive DNA sequences that are expanded in affected individuals. The age at which an individual begins to experience symptoms, and the severity of disease, are partially determined by the size of the repeat. However, the epigenetic state of the area in and around the repeat also plays an important role in determining the age of disease onset and the rate of disease progression. Read More

Am J Med Genet B Neuropsychiatr Genet 2022 May 19. Epub 2022 May 19.

Department of Geriatric Psychiatry, Qingdao Mental Health Center, Qingdao, Shandong Province, China.

Depressive disorder (DD) is associated with N6-methyladenosine (m6A) hypermethylation. This study sought to explore the molecular mechanism of Methyltransferase-like 3 (METTL3) in cognitive deficits of chronic unpredictable mild stress (CUMS)-treated rats and provide novel targets for DD treatment. A DD rat model was established via CUMS treatment. Read More

BMC Vet Res 2022 May 19;18(1):189. Epub 2022 May 19.

College of Animal Science (College of Bee Science), Fujian Agriculture and Forestry University, Fuzhou, 350002, P.R. China.

Background: Fowl Adenovirus serotype 4 (FAdV-4) infection causes severe inflammatory response leading to hepatitis-hydropericardium syndrome (HHS) in poultry. As an essential functional amino acid of poultry, arginine plays a critical role in anti-inflammatory and anti-oxidative stress.

Results: In this study, the differential expression genes (DEGs) were screened by transcriptomic techniques, and the DEGs in gene networks of inflammatory response-induced by FAdV-4 in broiler's liver were analyzed by Kyoto encyclopedia of genes and genomes (KEGG) enrichment. Read More

Evid Based Nurs 2022 May 19. Epub 2022 May 19.

Human Communication Sciences, The University of Sheffield, Sheffield, UK.

Soc Sci Med 2022 May 7;303:115021. Epub 2022 May 7.

Institute for History of Medicine and Science Studies, University of Lübeck, Königstrasse 42, Lübeck, 23552, Germany. Electronic address:

The prenatal genetic testing arena has witnessed great changes over the past decades and has been the focus of extensive discussion of its ethical, legal, and social implications. Germany and Israel were previously known for strongly contrasting regulations and attitudes of both professionals and laypeople towards genetic testing. Based on qualitative analysis of 37 semi-structured interviews, this study compares German and Israeli family members of individuals with Down syndrome and disability activists, thereby examining the interplay between lived experience and cultural scripts and their impact on the formation of personal views toward disability and prenatal testing. Read More

Blood Adv 2022 May 19. Epub 2022 May 19.

University of Southern California, Los Angeles, California, United States.

J Clin Invest 2022 May 19. Epub 2022 May 19.

INSERM, UMR1287, Institut Gustave Roussy, Villejuif, France.

Acute megakaryoblastic leukemia of Down syndrome (DS-AMKL) is a model of clonal evolution from a preleukemic transient myeloproliferative disorder requiring both a trisomy 21 (T21) and a GATA1s mutation to a leukemia driven by additional driver mutations. We modelled the megakaryocyte differentiation defect through stepwise gene editing of GATA1s, SMC3+/- and MPLW515K providing 20 different trisomy or disomy 21 iPSC clones. GATA1s profoundly reshaped iPSC-derived hematopoietic architecture with gradual myeloid-to-megakaryocyte shift and megakaryocyte differentiation alteration upon addition of SMC3 and MPL mutations. Read More

Mov Disord Clin Pract 2022 May 28;9(4):473-478. Epub 2022 Apr 28.

The MIND Institute University of California Davis Medical Center Sacramento California USA.

Background: Quantitative measurement of eye movements can reveal subtle progression in neurodegenerative diseases.

Objective: To determine if quantitative measurements of eye movements may reveal subtle progression of fragile X-associated tremor and ataxia (FXTAS).

Methods: Prosaccade (PS) and antisaccade (AS) behavior was analyzed in 25 controls, 57 non-FXTAS carriers, and 46 carriers with FXTAS. Read More

J Intellect Disabil 2022 May 18:17446295221095712. Epub 2022 May 18.

Scientific Institute, IRCCS E. Medea, Bosisio Parini, Lecco, Italy.

Increased attention is arising on the delivery of remote cognitive interventions, which allow performing exercises in everyday settings, favouring rehabilitation continuity. The present study offers an overview of remote cognitive training programs for children with congenital brain malformation or genetic syndrome affecting the central nervous system, included in papers published in the time period 2011-2021. A total of 13 records was found and discussed including efficacy studies, feasibility studies and study protocols. Read More

Scand J Caring Sci 2022 May 18. Epub 2022 May 18.

Department of Health Sciences, Faculty of Medicine, Lund University, Lund, Sweden.

Background: Children with down syndrome (DS) are breastfed to a lesser extent than infants in general, despite research showing that it is possible for these children to breastfeed successfully.

Aim: The aim was to describe how mothers of children with DS experienced breastfeeding and breastfeeding support from healthcare professionals.

Method: A qualitative study with an inductive approach. Read More

Virulence 2022 May 17. Epub 2022 May 17.

Institute of Marine Sciences and Guangdong Provincial Key Laboratory of Marine Biotechnology, Shantou University, Shantou 515063, China.

White spot syndrome virus (WSSV) is a large enveloped double-stranded DNA virus that is a major impediment for shrimp aquaculture worldwide. So far, the mechanisms of WSSV-host interactions are ill-defined. Recent studies have revealed that IE1, an immediate-early protein encoded by WSSV, is a multifunctional modulator implicated in virus-host interactions. Read More

North Clin Istanb 2022 18;9(2):156-161. Epub 2022 Apr 18.

Department of Developmental and Behavioral Pediatrics, Malatya Training and Research Hospital, Malatya, Turkey.

Objective: The objective of the study was to compare the motor development of children with Down syndrome (DS) who received physical therapy (PT) and did not receive PT, and to show the effect of PT programs started before the age of one on movement development.

Methods: The study included aged between 6 and 42 months, 58 children with DS. Children with DS were divided into two groups as receiving PT and non-receiving PT. Read More

Trends Genet 2022 May 14. Epub 2022 May 14.

Department of Psychology, Indiana University-Purdue University Indianapolis, Indianapolis, IN, USA; Graduate Program in Addiction Neuroscience, Indiana University-Purdue University Indianapolis, Indianapolis, IN, USA.

Animal models of Down syndrome (DS) provide an essential resource for understanding genetic, cellular, and molecular contributions to traits associated with trisomy 21 (Ts21). Recent genetic enhancements in the development of DS models, including the new TcHSA21rat model (Kazuki et al.), have potential to transform our understanding of and potential therapies for Ts21. Read More

Shock 2022 May 18. Epub 2022 May 18.

Department of Respiratory and Critical Care Medicine, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China.

Abstract: The effects of ferroptosis, an iron-dependent cell death, on acute respiratory distress syndrome (ARDS) remain largely elusive. Hepcidin, encoded by the HAMP gene, affects inflammation, and iron homeostasis. The present study aimed to investigate whether hepcidin protects against ferroptosis in lipopolysaccharide (LPS)-induced ARDS. Read More

Br J Haematol 2022 May 16. Epub 2022 May 16.

Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy.

To slow down the coronavirus disease 2019 (COVID-19) pandemic an unequalled vaccination campaign was initiated. Despite proven efficacy and safety, a rare but potentially fatal complication of adenoviral-vector vaccines, called vaccine-induced immune thrombotic thrombocytopenia (VITT), has emerged the pathogenesis of which seems to be related to the development of platelet-activating anti-platelet factor 4 (PF4) antibodies. While a few studies have evaluated the incidence of anti-PF4 positivity in anti-severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) vaccine recipients, to date no studies have assessed whether an antiplatelet immunological response develops and if this associates with platelet and blood clotting activation. Read More

Pharmacol Biochem Behav 2022 May 13:173404. Epub 2022 May 13.

Department of Biology, Indiana University-Purdue University Indianapolis, United States of America. Electronic address:

The neurotypical spatiotemporal patterns of gene expression are disrupted in Down syndrome (DS) by trisomy of human chromosome 21 (Hsa21), resulting in altered behavioral development and brain circuitry. The Ts65Dn DS mouse model exhibits similar phenotypes to individuals with DS due to three copies of approximately one-half of the genes found on Hsa21. Dual-specificity Tyrosine Phosphorylation-regulated Kinase 1a (Dyrk1a), one of these triplicated genes, is an attractive target to normalize brain development due to its influence in cellular brain deficits seen in DS. Read More

Assist Technol 2022 May 16. Epub 2022 May 16.

Laboratory Handicap, Action, Cognition, Santé, University of Bordeaux, Bordeaux, France.

People with Down syndrome (DS) encounter difficulties in their daily lives. In recent years, smart homes have provided some answers to the problem of residential autonomy. In fact, smart homes can provide support for complex routines and activities, while adjusting to the person's behaviors and needs and offering maximum control of the environment. Read More

J Am Heart Assoc 2022 May 16;11(10):e025888. Epub 2022 May 16.

Congenital Heart Center C.S. Mott Children's HospitalUniversity of Michigan Ann Arbor MI.

J Am Heart Assoc 2022 May 16;11(10):e024883. Epub 2022 May 16.

Division of Pediatric Cardiology Stanford University Palo Alto CA.

Background Children with Down syndrome (DS) have a high risk of cardiac disease that may prompt consideration for heart transplantation (HTx). However, transplantation in patients with DS is rarely reported. This project aimed to collect and describe waitlist and post- HTx outcomes in children with DS. Read More

Int J Pediatr 2022 6;2022:8074094. Epub 2022 May 6.

Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia.

Down syndrome (DS) or trisomy 21 is caused due to the presence of additional chromosome 21 in humans. DS can exist either as free trisomy 21 (nondisjunction), Robertsonian translocated DS, or as mosaic DS. Obstructive sleep apnea (OSA) is a complex condition with serious health implications for pediatric individuals with DS. Read More

Front Pediatr 2022 29;10:882722. Epub 2022 Apr 29.

Department of Pharmacy, Xi'an Children's Hospital, Xi'an, China.

Purpose: This study aimed to determine Down syndrome (DS) burden using years lived with disability (YLDs), years of life lost (YLLs), disability-adjusted life years (DALYs), and the trends in these parameters.

Methods: We obtained the annual YLDs, YLLs, DALYs, and age-standardized rates (ASRs) of DS from 2010 to 2019 using the Global Health Data Exchange tool. The estimated annual percentage changes (EAPCs) in ASR were used to quantify and evaluate DS burden trends. Read More

Psychol Sch 2022 Apr 12. Epub 2022 Apr 12.

School Psychology Program, School of Education and Human Development University of Colorado Denver Denver Colorado USA.

The unprecedented school closures in response to COVID-19 have been associated with a number of negative impacts on students and their families. In addition to these difficulties, parents of students with disabilities are faced with prepandemic stresses and challenges that may be exacerbated by the school closures. This qualitative study aimed to investigate the experiences and struggles of parents of children identified with a disability during the COVID-19 school closures. Read More

Nano Res 2022 May 10:1-7. Epub 2022 May 10.

Department of Materials Science and Engineering, Southern University of Science and Technology of China, Shenzhen, 518055 China.

Early detection of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is an efficient way to prevent the spread of coronavirus disease 2019 (COVID-19). Detecting SARS-CoV-2 antigen can be rapid and convenient, but it is still challenging to develop highly sensitive methods for effective diagnosis. Herein, a lateral flow assay (LFA) based on fluorescent nanoparticles emitting in the second near-infrared (NIR-II) window is developed for sensitive detection of SARS-CoV-2 antigen. Read More

Oxid Med Cell Longev 2022 5;2022:5475832. Epub 2022 May 5.

Department of Respiratory Medicine, Second Affiliated Hospital of Chongqing Medical University, Chongqing, China.

The "obesity paradox in acute respiratory distress syndrome" (ARDS) refers to the phenomenon in which obesity is associated with higher morbidity but lower mortality in patients with ARDS. Endothelial-to-mesenchymal transition (EndMT) represents a key link in the interaction between endothelial disruption and mesenchymal fibrosis under inflammatory and oxidative conditions, which represent the intersectional pathophysiology of ARDS. Adipose tissue is considered to constitute the major source of circulating exosomal microRNAs (miRNAs), which act as genetic forms of adipokines for cell-cell crosstalk. Read More

Front Genet 2022 27;13:792165. Epub 2022 Apr 27.

IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy.

Control of ribosome biogenesis is a critical aspect of the regulation of cell metabolism. As ribosomal genes (rDNA) are organized in repeated clusters on chromosomes 13, 14, 15, 21, and 22, trisomy of chromosome 21 confers an excess of rDNA copies to persons with Down syndrome (DS). Previous studies showed an alteration of ribosome biogenesis in children with DS, but the epigenetic regulation of rDNA genes has not been investigated in adults with DS so far. Read More

Mil Med 2022 May 16. Epub 2022 May 16.

Department of Operations and Support, Faculty of Military Sciences and Officer Training, University of Public Service, Budapest 1101, Hungary.

Introduction: As of early 2022, the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic still represents a worldwide medical emergency situation. The ongoing vaccination programs can slow down the spread of the virus; however, from time to time, the newly emerging variants of concern and antivaccination movements carry the possibility for the disease to remain in our daily lives. After the appearance of SARS-CoV-2, there was scholarly debate whether the virus was of natural origin, or it emerged from a laboratory, some even thinking the agent's potential biological weapon properties suggest the latter scenario. Read More

Australas J Dermatol 2022 May 14. Epub 2022 May 14.

Department of Dermatology, Virgen del Rocío University Hospital, Seville, Spain.

Down syndrome (DS) has been related to a higher risk of hidradenitis suppurativa (HS). This cross-sectional study assessed DS patients with HS in a Spanish single-centre sample. DS participants presented a lower age of onset, age at diagnosis and time to diagnosis. Read More