Development of pulmonary hypertension remains a major hurdle to corrective surgery in Down syndrome
World J Cardiol. 2024 Jan 26;16(1):1-4. doi: 10.4330/wjc.v16.i1.1.ABSTRACTDown syndrome is the most common chromosomal abnormality encountered in clinical practice with 50% of them having associated congenital heart disease (CHD). Shunt lesions account for around 75% of all CHDs in Down syndrome. Down syndrome patients, especially with large shunts are particularly predisposed to early development of severe pulmonary hypertension (PH) compared with shunt lesions in general population. This necessitates timely surgical correction which remains the only viable option to prevent long term morbidity and mortality. However, des...
Source: World Journal of Cardiology - February 5, 2024 Category: Cardiology Authors: Akash Batta Juniali Hatwal Source Type: research
Development of pulmonary hypertension remains a major hurdle to corrective surgery in Down syndrome
World J Cardiol. 2024 Jan 26;16(1):1-4. doi: 10.4330/wjc.v16.i1.1.ABSTRACTDown syndrome is the most common chromosomal abnormality encountered in clinical practice with 50% of them having associated congenital heart disease (CHD). Shunt lesions account for around 75% of all CHDs in Down syndrome. Down syndrome patients, especially with large shunts are particularly predisposed to early development of severe pulmonary hypertension (PH) compared with shunt lesions in general population. This necessitates timely surgical correction which remains the only viable option to prevent long term morbidity and mortality. However, des...
Source: World Journal of Cardiology - February 5, 2024 Category: Cardiology Authors: Akash Batta Juniali Hatwal Source Type: research
Development of pulmonary hypertension remains a major hurdle to corrective surgery in Down syndrome
World J Cardiol. 2024 Jan 26;16(1):1-4. doi: 10.4330/wjc.v16.i1.1.ABSTRACTDown syndrome is the most common chromosomal abnormality encountered in clinical practice with 50% of them having associated congenital heart disease (CHD). Shunt lesions account for around 75% of all CHDs in Down syndrome. Down syndrome patients, especially with large shunts are particularly predisposed to early development of severe pulmonary hypertension (PH) compared with shunt lesions in general population. This necessitates timely surgical correction which remains the only viable option to prevent long term morbidity and mortality. However, des...
Source: World Journal of Cardiology - February 5, 2024 Category: Cardiology Authors: Akash Batta Juniali Hatwal Source Type: research
Development of pulmonary hypertension remains a major hurdle to corrective surgery in Down syndrome
World J Cardiol. 2024 Jan 26;16(1):1-4. doi: 10.4330/wjc.v16.i1.1.ABSTRACTDown syndrome is the most common chromosomal abnormality encountered in clinical practice with 50% of them having associated congenital heart disease (CHD). Shunt lesions account for around 75% of all CHDs in Down syndrome. Down syndrome patients, especially with large shunts are particularly predisposed to early development of severe pulmonary hypertension (PH) compared with shunt lesions in general population. This necessitates timely surgical correction which remains the only viable option to prevent long term morbidity and mortality. However, des...
Source: World Journal of Cardiology - February 5, 2024 Category: Cardiology Authors: Akash Batta Juniali Hatwal Source Type: research
Development of pulmonary hypertension remains a major hurdle to corrective surgery in Down syndrome
World J Cardiol. 2024 Jan 26;16(1):1-4. doi: 10.4330/wjc.v16.i1.1.ABSTRACTDown syndrome is the most common chromosomal abnormality encountered in clinical practice with 50% of them having associated congenital heart disease (CHD). Shunt lesions account for around 75% of all CHDs in Down syndrome. Down syndrome patients, especially with large shunts are particularly predisposed to early development of severe pulmonary hypertension (PH) compared with shunt lesions in general population. This necessitates timely surgical correction which remains the only viable option to prevent long term morbidity and mortality. However, des...
Source: World Journal of Cardiology - February 5, 2024 Category: Cardiology Authors: Akash Batta Juniali Hatwal Source Type: research
Development of pulmonary hypertension remains a major hurdle to corrective surgery in Down syndrome
World J Cardiol. 2024 Jan 26;16(1):1-4. doi: 10.4330/wjc.v16.i1.1.ABSTRACTDown syndrome is the most common chromosomal abnormality encountered in clinical practice with 50% of them having associated congenital heart disease (CHD). Shunt lesions account for around 75% of all CHDs in Down syndrome. Down syndrome patients, especially with large shunts are particularly predisposed to early development of severe pulmonary hypertension (PH) compared with shunt lesions in general population. This necessitates timely surgical correction which remains the only viable option to prevent long term morbidity and mortality. However, des...
Source: World Journal of Cardiology - February 5, 2024 Category: Cardiology Authors: Akash Batta Juniali Hatwal Source Type: research
A Comprehensive Review of the Relationship Between Oral Health and Down Syndrome
AbstractPurpose of ReviewIndividuals with Down syndrome (DS) may be more susceptible to oral disorders as a result of a combination of genetic factors, immunological disturbances, anatomical anomalies, and probable difficulties in maintaining adequate oral hygiene. Within this context, we provide a comprehensive review of the most important relationships between oral health and Down syndrome.Recent FindingsRecent investigations suggest that a diminished diversity in the oral microbiome could emerge as a critical factor affecting oral health in individuals with DS. Plausible anatomical and metabolic peculiarities inherent t...
Source: Current Oral Health Reports - February 2, 2024 Category: Dentistry Source Type: research
A retrospective analysis of gene fusions and treatment outcomes in pediatric acute megakaryoblastic leukemia without Down syndrome
Haematologica. 2024 Feb 1. doi: 10.3324/haematol.2023.283760. Online ahead of print.ABSTRACTNot available.PMID:38299674 | DOI:10.3324/haematol.2023.283760 (Source: Haematologica)
Source: Haematologica - February 1, 2024 Category: Hematology Authors: Kyogo Suzuki Asahito Hama Yusuke Okuno Yinyan Xu Atsushi Narita Nao Yoshida Hideki Muramatsu Nobuhiro Nishio Koji Kato Seiji Kojima Keon Hee Yoo Yoshiyuki Takahashi Source Type: research
Sleep Quality and Evening Salivary Cortisol Levels in Association with the Psychological Resources of Parents of Children with Developmental Disorders and Type 1 Diabetes
CONCLUSIONS: Public health programs aimed at lifestyle habit improvement, respite care, and relaxation for parents of children with chronic conditions would be useful for improving parental sleep quality, self-esteem, optimism and happiness.PMID:38300504 | DOI:10.1007/s10803-024-06269-7 (Source: Journal of Autism and Developmental Disorders)
Source: Journal of Autism and Developmental Disorders - February 1, 2024 Category: Psychiatry Authors: Marija Ljubi čić Sonja Šare Ivana Kol čić Source Type: research
Preclinical Evaluation of an Anti-CD41 CAR T Cell in Acute Megakaryoblastic Leukemia on in Vitro and In Vivo Models
Acute Megakaryoblastic Leukemia (AMkL) is a rare disease that represents 5% of all reported AML cases and is diagnosed with high frequency in children with Down Syndrome and elderly people. M7-AMkL is characterized by a low overall survival and the patients have poor outcome to treatment, thus alternative treatments, such as CAR T cell therapies, are a need for better patient management.Herein, we present an evaluation of a new CAR T cell which targets CD41 marker, a specific surface antigen for M7-AMkL, in a preclinical model for AMkL using DAMI Luc2 cell line for in vitro and in vivo experiments. (Source: Biology of Bloo...
Source: Biology of Blood and Marrow Transplantation - February 1, 2024 Category: Hematology Authors: Adrian Bogdan Tigu, Catalin Constantinescu, Patric Teodorescu, David Kegyes, Raluca Munteanu, Richard Feder, Mareike Peters, Ioana Pralea, Cristina Iuga, Diana Cenariu, Andra Marcu, Alina Daniela Tanase, Anca Colita, Rares Drula, Jon Thor Bergthorsson, Vi Tags: 117 Source Type: research
Allogeneic Hematopoietic Cell Transplantation for Acute Megakaryocytic Leukemia: A Single Center Study
Acute megakaryocytic leukemia (AMKL) comprises 4-15% of all acute myeloid leukemia (AML) diagnoses in pediatric patients. Unlike patients with Down syndrome who have a>80% expected survival, the 5-year overall survival (OS) in patients with de novo AMKL ranges between 14-49%. While treatment intensification has improved the outcome of these patients over the last few decades, the role of hematopoietic cell transplantation (HCT) in these patients in complete remission (CR) is often debated. To better define the role of HCT, we evaluated the outcomes of pediatric patients who underwent their first HCT at our institution from...
Source: Biology of Blood and Marrow Transplantation - February 1, 2024 Category: Hematology Authors: Shruthi Suryaprakash, Yu Bi, Subodh Selukar, Dinesh Keerthi, Amr Qudeimat, Aimee C. Talleur, Ewelina Mamcarz, Ashok Srinivasan, Renee Madden, Dr. Rebecca Epperly, Swati Naik, Stephen Gottschalk, Brandon M. Triplett, Akshay Sharma Tags: 128 Source Type: research
GSE247990 Transcriptional Consequences of Trisomy 21 on Neural Induction
Contributors : Jose L Martinez ; Jennifer G Piciw ; Madeline Crockett ; Isabella A Sorci ; Nikunj Makwana ; Carissa L Sirois ; Yathindar Giffin-Rao ; Anita BhattacharyyaSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensDown syndrome, caused by trisomy 21, is a complex developmental disorder associated with intellectual disability and reduced growth of multiple organs. Structural pathologies are present at birth, reflecting embryonic origins. A fundamental unanswered question is how an extra copy of human chromosome 21 contributes to organ-specific pathologies that characterize indiv...
Source: GEO: Gene Expression Omnibus - January 31, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
Epicanthoplasty: Social and Historic Perspectives
The epicanthus is a fold of skin covering the inner corner of the eye, blending into the nasal skin. It is a cosmetic feature of many populations of the world. The surgical alteration of this structure was first developed for the epicanthus found in such congenital genetic conditions as Down syndrome in the West. In the last century and a half, in what may be a reaction to the Western portrayal of skin overlaying the eye and of Shakespeare's descriptions of characters with epicanthic folds, surgical techniques have arisen for pure cosmetic intent to alter the Asian eyelid. (Source: Clinics in Dermatology)
Source: Clinics in Dermatology - January 26, 2024 Category: Dermatology Authors: Jonathan Xu, Jane M. Grant-Kels, Lawrence Charles Parish, Andrzej Grzybowski Source Type: research
Down Syndrome Biobank Consortium: A perspective
Alzheimers Dement. 2024 Jan 25. doi: 10.1002/alz.13692. Online ahead of print.ABSTRACTIndividuals with Down syndrome (DS) have a partial or complete trisomy of chromosome 21, resulting in an increased risk for early-onset Alzheimer's disease (AD)-type dementia by early midlife. Despite ongoing clinical trials to treat late-onset AD, individuals with DS are often excluded. Furthermore, timely diagnosis or management is often not available. Of the genetic causes of AD, people with DS represent the largest cohort. Currently, there is a knowledge gap regarding the underlying neurobiological mechanisms of DS-related AD (DS-AD),...
Source: The Journal of Alzheimers Association - January 25, 2024 Category: Psychiatry Authors: Iban Aldecoa Isabel Barroeta Steven L Carroll Juan Fortea Anah Gilmore Stephen D Ginsberg Samuel J Guzman Eric D Hamlett Elizabeth Head Sylvia E Perez Huntington Potter Laura Molina-Porcel Ruma Raha-Chowdhury Thomas Wisniewski William H Yong Shahid Zaman Source Type: research
Male Genetic Evaluation in Infertility, Recurrent Abortion and Recurrent in Vitro Fertilization Failure; A Clinical Approach
CONCLUSION: Although many mutations that can affect male fertility and spermogram have been identified, only a few have clinical predictive value.PMID:38264866 | DOI:10.22037/uj.v20i.8044 (Source: Urology Journal)
Source: Urology Journal - January 24, 2024 Category: Urology & Nephrology Authors: Hamed Akhavizadegan Source Type: research
