Review
Cardiac & Cardiovascular Systems
Konstantinos Dimopoulos, Andrew Constantine, Paul Clift, Robin Condliffe, Shahin Moledina, Katrijn Jansen, Ryo Inuzuka, Gruschen R. Veldtman, Clifford L. Cua, Edgar Lik Wui Tay, Alexander R. Opotowsky, George Giannakoulas, Rafael Alonso-Gonzalez, Rachael Cordina, George Capone, Judith Namuyonga, Charmaine H. Scott, Michele D'Alto, Francisco J. Gamero, Brian Chicoine, Hong Gu, Alisa Limsuwan, Tosin Majekodunmi, Werner Budts, Gerry Coghlan, Craig S. Broberg
Summary: Congenital heart disease is the most common cardiovascular condition in individuals with Down syndrome, affecting up to 50% of patients. Other factors that contribute to cardiovascular outcomes include pulmonary hypertension, pulmonary, endocrine, and metabolic diseases, and risk factors for atherosclerotic disease. Disparities in cardiovascular care for individuals with Down syndrome, which vary across different locations and healthcare systems, are often overlooked. This review provides a comprehensive summary of the diagnosis, prevalence, and management of cardiovascular disease in patients with Down syndrome, as well as addressing disparities in care based on resource availability.
Article
Pediatrics
Fernanda Salgado, Guillermo Larios, Gonzalo Valenzuela, Rodolfo Amstein, Patricio Valle, Paulo Valderrama
Summary: Extubation failure is common in children with Down syndrome after cardiac surgery, and it is associated with younger age, presence of aortic coarctation, cardiac enlargement, and hypotonia.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Article
Genetics & Heredity
Xi-ji Qin, Meng-meng Xu, Jia-jun Ye, Yi-wei Niu, Yu-rong Wu, Rang Xu, Fen Li, Qi-hua Fu, Sun Chen, Kun Sun, Yue-juan Xu
Summary: This study identified three MMP21 variants associated with HTX patients with complex congenital heart defects, furthering our understanding of the genetic factors of this disease.
Article
Genetics & Heredity
Katherine A. Waugh, Ross Minter, Jessica Baxter, Congwu Chi, Matthew D. Galbraith, Kathryn D. Tuttle, Neetha P. Eduthan, Kohl T. Kinning, Zdenek Andrysik, Paula Araya, Hannah Dougherty, Lauren N. Dunn, Michael Ludwig, Kyndal A. Schade, Dayna Tracy, Keith P. Smith, Ross E. Granrath, Nicolas Busquet, Santosh Khanal, Ryan D. Anderson, Liza L. Cox, Belinda Enriquez Estrada, Angela L. Rachubinski, Hannah R. Lyford, Eleanor C. Britton, Katherine A. Fantauzzo, David J. Orlicky, Jennifer L. Matsuda, Kunhua Song, Timothy C. Cox, Kelly D. Sullivan, Joaquin M. Espinosa
Summary: A study discovered that triplication of the interferon receptor gene cluster on chromosome 21 is crucial for Down syndrome. Gene editing experiments showed that correcting the copy number of this gene improved multiple phenotypes associated with Down syndrome.
Article
Genetics & Heredity
Tao Zhang, Hua Yuan, Hongdan Zhu, Yuyi Ying, Jinlong Ding, Haigang Ding, Xiaoliang Shi, Yao He, Haitao Pan, Yongxing Zhong
Summary: This study reports a case of fetal congenital heart disease (CHD) caused by rare compound heterozygous mutations in the DNAH9 gene in a Chinese patient. The 3D structure and functional changes of the DNAH9 protein were predicted.
FRONTIERS IN GENETICS
(2022)
Article
Pediatrics
Rachel K. Hopper, Steven H. Abman, Eleni G. Elia, Catherine M. Avitabile, Delphine Yung, Mary P. Mullen, Eric D. Austin, Angela Bates, Stephanie S. Handler, Jeffrey A. Feinstein, D. Dunbar Ivy, John P. Kinsella, Kenneth D. Mandl, J. Usha Raj, Lynn A. Sleeper
Summary: This study characterized comorbidities, outcomes, and treatment patterns in children with Down syndrome and pulmonary hypertension. The results showed that despite the presence of cardiac and respiratory comorbidities, children with Down syndrome-associated pulmonary hypertension have a similar survival rate to those with non-Down syndrome-associated pulmonary hypertension.
JOURNAL OF PEDIATRICS
(2023)
Article
Pediatrics
Ji Hee Kwak, Seung Won Lee, Hye Ryeong Cha, June Huh, I-Seok Kang, Tae-Gook Jun, Ji-Hyuk Yang, Man Yong Han, Jinyoung Song
Summary: The study investigates the prevalence and postoperative morbidity and mortality in Down syndrome patients who underwent total correction for congenital heart disease. The results show that these patients experienced pulmonary hypertension after surgery, longer hospital stay, frequent hospitalization after surgery, and a higher rate of late mortality.
Review
Biochemistry & Molecular Biology
Nunzia Mollo, Roberta Scognamiglio, Anna Conti, Simona Paladino, Lucio Nitsch, Antonella Izzo
Summary: Down syndrome (DS), caused by trisomy of chromosome 21 (Hsa21), is a major cause of congenital heart defects (CHD). The overexpression of Hsa21 genes likely contributes to CHD, along with genes on other chromosomes, miRNAs, and lncRNAs. ECM plays a key role in cardiac morphogenesis, with many ECM genes overexpressed in trisomic fetal hearts.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Multidisciplinary Sciences
Carter R. Palmer, Christine S. Liu, William J. Romanow, Ming-Hsiang Lee, Jerold Chun
Summary: This study identified changes in neuronal proportions and microglial transcriptome characteristics in the brain of individuals with Down syndrome (DS), suggesting their potential relevance to the development of Alzheimer's disease (AD). The findings shed light on large-scale cellular and transcriptomic alterations associated with aging in the DS brain.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Review
Anesthesiology
Muhanad A. Aboud, Virendra K. Arya, Vikas Dutta, Robin Ducas, Waiel Al-Moustadi, Subhrashis Guha Niyogi
Summary: The population of adult patients with both Down syndrome and congenital heart disease is increasing due to better medical and surgical care. This review focuses on the perioperative medical care of these patients, providing anesthetic considerations for different comorbidities and presenting a systematic approach for their anesthetic management.
JOURNAL OF CARDIOTHORACIC AND VASCULAR ANESTHESIA
(2023)
Article
Cardiac & Cardiovascular Systems
Melissa L. Bates, Anastasiia Vasileva, Laura D. M. Flores, Yana Pryakhina, Michelle Buckman, Michael H. Tomasson, Lara R. DeRuisseau
Summary: This meta-analysis examines potential sex differences in cardiovascular diseases in patients with Down syndrome. The findings suggest that female patients with Down syndrome are at higher risk of hypertension, ischemic heart disease, and cerebrovascular disease, while males with Down syndrome have a higher risk of congenital heart disease.
AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
(2023)
Article
Genetics & Heredity
Doris Skoric-Milosavljevic, Najim Lahrouchi, Fernanda M. Bosada, Gregor Dombrowsky, Simon G. Williams, Robert Lesurf, Fleur V. Y. Tjong, Roddy Walsh, Ihssane El Bouchikhi, Jeroen Breckpot, Enrique Audain, Aho Ilgun, Leander Beekman, Ilham Ratbi, Alanna Strong, Maximilian Muenke, Solveig Heide, Alison M. Muir, Mariam Hababa, Laura Cross, Dihong Zhou, Tomi Pastinen, Elaine Zackai, Samir Atmani, Karim Ouldim, Najlae Adadi, Katharina Steindl, Anita Rauch, David Brook, Anna Wilsdon, Irene Kuipers, Nico A. Blom, Barbara J. Mulder, Heather C. Mefford, Boris Keren, Pascal Joset, Paul Kruszka, Isabelle Thiffault, Sarah E. Sheppard, Amy Roberts, Elisabeth M. Lodder, Bernard D. Keavney, Sally-Ann B. Clur, Seema Mital, Marc-Philip Hitz, Vincent M. Christoffels, Alex V. Postma, Connie R. Bezzina
Summary: Rare genetic variants in KDR, particularly protein-truncating variants (PTVs), are strongly associated with TOF, likely playing a role in the pathogenesis of the disease in different inheritance patterns.
GENETICS IN MEDICINE
(2021)
Article
Pediatrics
Ioana-Cristina Olariu, Anca Popoiu, Andrada-Mara Ardelean, Raluca Isac, Ruxandra Maria Steflea, Tudor Olariu, Adela Chirita-Emandi, Ramona Stroescu, Mihai Gafencu, Gabriela Doros
Summary: Complete AVSD is more frequent and has a worse prognosis in DS patients, while unbalanced AVSD is more common in the non-DS group. Children with DS require special attention and late diagnosis is a risk factor for poor prognosis.
FRONTIERS IN PEDIATRICS
(2021)
Article
Cardiac & Cardiovascular Systems
Jeanne L. Theis, Timothy M. Olson
Summary: Hypoplastic left heart syndrome is a genetically complex disorder, and whole genome sequencing is a useful tool for identifying genes associated with the disease. This review discusses family and cohort-based strategies for analyzing whole genome sequencing datasets and identifies potential candidate genes for HLHS.
JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE
(2022)
Review
Genetics & Heredity
Leslye Venegas-Zamora, Francisco Bravo-Acuna, Francisco Sigcho, Wileidy Gomez, Jose Bustamante-Salazar, Zully Pedrozo, Valentina Parra
Summary: This article provides an overview of the genetic background of Down syndrome and the involvement of genes and non-coding RNAs in heart diseases. It also discusses the impact of altered pathways in cardiomyocytes and the role of mitochondrial and lysosomal dysfunction in heart function and development.
FRONTIERS IN GENETICS
(2022)
Article
Allergy
Sibtain Afzal, Khushnooda Ramzan, Sajjad Ullah, Arshad Jamal, Sulman Basit, Khaled M. AlKattan, Ahmed Bilal Waqar
Summary: This study analyzed the frequencies of four SNPs in the Pashtun population of Pakistan and found that three of them are significantly associated with asthma susceptibility in females.
Article
Chemistry, Inorganic & Nuclear
Ameeduzzafar Zafar, Nabil K. Alruwaili, Syed Sarim Imam, Omar Awad Alsaidan, Khalid Saad Alharbi, Sami Alzarea, Mohd Yasir, Muhammad Afzal, Sultan Alshehri, Abdullah S. Alanazi
Summary: The study prepared LT-loaded CH-PLGA nanoparticles and optimized and evaluated their properties. The results showed that CH-PLGA-LT-NPs exhibited sustained drug release and significant effects in reducing blood glucose level and improving biochemical parameters.
JOURNAL OF CLUSTER SCIENCE
(2023)
Article
Green & Sustainable Science & Technology
Khalid Alharbi, Joon Kyoung Kim, Christopher Noland, Jackson Carter
Summary: This study examines the impact of consumer-brand congruence and consumer-celebrity congruence on consumer attitudes and behavioral intentions in the context of corporate social advocacy involving controversial celebrities. The findings suggest that consumer attitudes mediate the effects of consumer-brand congruence on behavioral intentions, including purchase intention, brand preference, and boycott recommendation. Consumer-celebrity congruence moderates the indirect effect of consumer-brand congruence on brand preference and boycott recommendation. These findings contribute to the understanding of consumer responses to corporate social advocacy, emphasizing the importance of consumer-brand congruence.
Article
Chemistry, Inorganic & Nuclear
Abul Barkat, Mahfoozur Rahman, Khalid S. Alharbi, Waleed M. Altowayan, Majed Alrobaian, Obaid Afzal, Abdulmalik Saleh Alfawaz Altamimi, Fahad Saad Alhodieb, Waleed H. Almalki, Hani Choudhry, Tanuja Singh, Sarwar Beg
Summary: The polymeric nanoparticles loaded with tamoxifen (TF) and ganoderic acid A (GA-A) showed promising in vitro and in vivo efficacy for treating breast cancer. The optimized formulation exhibited small particle size, high drug entrapment efficiency, and sustained drug release. It significantly reduced cell viability and tumor incidence in the DMBA-induced rat model, and also normalized various hematological and biochemical parameters.
JOURNAL OF CLUSTER SCIENCE
(2023)
Article
Chemistry, Inorganic & Nuclear
Mohammad Javed Ansari, Mahfoozur Rahman, Majed Alrobaian, Waleed H. Almalki, Khalid S. Alharbi, Waleed M. Altowayan, Ibrahim Abdel Aziz Ibrahim, Abdullah R. Alzahrani, Tanuja Singh, Sarwar Beg
Summary: This study developed and characterized caffeine acid-loaded lipid polymer hybrid nanoparticles for treating liver cirrhosis. The nanoparticles showed suitable particle size, stability, and drug release properties, leading to improved bioavailability of caffeine acid and therapeutic effects against liver cirrhosis.
JOURNAL OF CLUSTER SCIENCE
(2023)
Review
Genetics & Heredity
Amira Kohil, Atiyeh M. Abdallah, Khalid Hussain, Mashael Al-Shafai
Summary: This study reviewed the genetic basis of Woodhouse-Sakati syndrome (WSS) and reported the genetic variants and clinical phenotypes associated with the disease. A total of 25 studies with 185 patients from 97 families in 12 different countries were included. Consanguineous marriages were common in the Greater Middle East region. Thirteen different DCAF17 variants were associated with WSS development, with the most frequent variant being a frameshift deletion variant unique to Arabs.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Review
Medicine, General & Internal
Amal Al-Haidose, Mohamed A. Yassin, Muna N. Ahmed, Hasna H. Kunhipurayil, Asrar A. Al-Harbi, Musheer A. Aljaberi, Saddam A. Abbasi, Shahram Kordasti, Atiyeh M. Abdallah
Summary: The aim of this study was to assess the clinical, laboratory, and pathologic characteristics of myelodysplastic syndrome (MDS) and identify distinct clinical features in the Middle East and North Africa (MENA) region. The findings revealed that MDS is more prevalent and more severe in the MENA region compared to Western populations. Patients from the Asian MENA population had a worse prognosis compared to the North African MENA population.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Medicine, General & Internal
Abdulhadi H. Almazroea, Sondos Yousef, Salma M. S. Ahmad, Hanin N. AlHiraky, Amal Al-Haidose, Atiyeh M. Abdallah
Summary: The ACE I/D polymorphism is associated with the levels of acute-phase reactants in rheumatic heart disease, which is important for disease stratification. However, further studies are needed to confirm this association and explore the underlying mechanism.
Article
Biotechnology & Applied Microbiology
Warda Akbar, Asmat Ullah, Nighat Haider, Sufyan Suleman, Fati Ullah Khan, Abid Ali Shah, Muhammad Atif Sikandar, Sulman Basit, Wasim Ahmad
Summary: This study investigated the genetic causes of syndromic anophthalmia in a Pakistani family. The researchers identified novel mutations in the FOXE3 and AP4M1 genes as the cause of the disease. These findings are significant for understanding the pathological role of these gene mutations and have implications for prenatal testing and genetic counseling.
JOURNAL OF GENE MEDICINE
(2023)
Article
Medicine, General & Internal
Sarah Alsobaie, Arwa A. Alageel, Tahira Ishfaq, Imran Ali Khan, Khalid Khalaf Alharbi
Summary: This study investigated the association between the rs8192675 SNP and women with polycystic ovary syndrome (PCOS) in Saudi Arabia, finding a strong association between the SNP and PCOS women who developed type 2 diabetes mellitus (T2DM). This suggests that this genetic variant may be an important factor in the development of PCOS and T2DM. The findings of this study provide valuable insights into the relationship between PCOS and diabetes.
Article
Biochemistry & Molecular Biology
Rania Magadmi, Reem Alyoubi, Tahani Moshrif, Duaa Bakhshwin, Bandar A. Suliman, Fatemah Kamel, Maha Jamal, Abdulhadi S. Burzangi, Sulman Basit
Summary: This study investigated the association between single-nucleotide polymorphisms (SNPs) of the ABCB1 gene and the response to anti-seizure medications in Saudi pediatric epileptic patients. The results showed a significant association between the rs1045642 and rs2032582 variants and patient responsiveness. Despite the small sample size, the study highlights the importance of personalized treatment for epileptic patients.
Article
Biochemistry & Molecular Biology
Ahmad M. Almatrafi, Majed M. Alluqmani, Sulman Basit
Summary: This study investigated a large family with patients experiencing muscle fatigue and weakness. A mutation in the CHRNE gene was identified, and personalized treatment resulted in significant improvement in symptoms. The mutation expands the phenotypic symptoms associated with the CHRNE gene.
Article
Health Care Sciences & Services
Muna N. Ahmad, Saja A. Abdallah, Saddam A. Abbasi, Atiyeh M. Abdallah
Summary: This study investigates the knowledge, attitudes, and perspectives of healthcare students at Qatar University on the integration of artificial intelligence into healthcare services. Most participants have a positive attitude towards artificial intelligence, finding it useful and reliable, but some express concerns about job security and believe that artificial intelligence cannot provide sympathetic care.
Article
Medicine, General & Internal
Asmat Ullah, Abid Ali Shah, Fibhaa Syed, Arif Mahmood, Hassan Ur Rehman, Beenish Khurshid, Abdus Samad, Wasim Ahmad, Sulman Basit
Summary: Mutations in the CYB5R3 gene are responsible for recessive congenital methemoglobinemia, resulting in elevated methemoglobin levels causing cyanosis and, in some cases, neurological complications. This study identified a novel mutation in the CYB5R3 gene and expanded the understanding of its variant spectrum, providing a basis for genetic counseling for affected individuals and families.
MEDICINA-LITHUANIA
(2023)
Review
Medicine, General & Internal
Amira Kohil, Wafa Abdalla, Wisam N. Ibrahim, Khalid M. Al-Harbi, Amal Al-Haidose, Maha Al-Asmakh, Atiyeh M. Abdallah
Summary: This comprehensive review examines the intricate relationship between the microbiome and the immune system in RHD and other rheumatic diseases, exploring the potential impact of microbiota on RHD and opportunities for diagnosis and treatment.
MEDICINA-LITHUANIA
(2023)
