Quality-of-life Assessment among Children with Esophageal Achalasia
CONCLUSION: Even when managed by interdisciplinary teams of professionals, managing esophageal achalasia in specialized institutions is still a subject of debate. Early pediatric diagnosis is best achieved with routine physiological function tests and HREM. Moreover, more research is required to assess long-term Quality of Life. Standardized lifelong follow-up and qualified resources, both human and technological, are required to improve postoperative outcomes.PMID:38173647 | PMC:PMC10760607 | DOI:10.4103/jiaps.jiaps_67_23 (Source: Hand Surgery)
Source: Hand Surgery - January 4, 2024 Category: Surgery Authors: Mohamed Oulad Saiad Mohamed Naoufal Idrissi Bahre Noama Ryad Source Type: research

Intersectin - many facets of a scaffold protein
Biochem Soc Trans. 2024 Jan 4:BST20211241. doi: 10.1042/BST20211241. Online ahead of print.ABSTRACTIntersectin (ITSN) is a multi-domain scaffold protein with a diverse array of functions including regulation of endocytosis, vesicle transport, and activation of various signal transduction pathways. There are two ITSN genes located on chromosomes 21 and 2 encoding for proteins ITSN1 and ITSN2, respectively. Each ITSN gene encodes two major isoforms, ITSN-Long (ITSN-L) and ITSN-Short (ITSN-S), due to alternative splicing. ITSN1 and 2, collectively referred to as ITSN, are implicated in many physiological and pathological proc...
Source: Biochemical Society Transactions - January 4, 2024 Category: Biochemistry Authors: Mubashir Mintoo Vinodh Rajagopalan John P O'Bryan Source Type: research

Intersectin - many facets of a scaffold protein
Biochem Soc Trans. 2024 Jan 4:BST20211241. doi: 10.1042/BST20211241. Online ahead of print.ABSTRACTIntersectin (ITSN) is a multi-domain scaffold protein with a diverse array of functions including regulation of endocytosis, vesicle transport, and activation of various signal transduction pathways. There are two ITSN genes located on chromosomes 21 and 2 encoding for proteins ITSN1 and ITSN2, respectively. Each ITSN gene encodes two major isoforms, ITSN-Long (ITSN-L) and ITSN-Short (ITSN-S), due to alternative splicing. ITSN1 and 2, collectively referred to as ITSN, are implicated in many physiological and pathological proc...
Source: Biochemical Society Transactions - January 4, 2024 Category: Biochemistry Authors: Mubashir Mintoo Vinodh Rajagopalan John P O'Bryan Source Type: research

Intersectin - many facets of a scaffold protein
Biochem Soc Trans. 2024 Jan 4:BST20211241. doi: 10.1042/BST20211241. Online ahead of print.ABSTRACTIntersectin (ITSN) is a multi-domain scaffold protein with a diverse array of functions including regulation of endocytosis, vesicle transport, and activation of various signal transduction pathways. There are two ITSN genes located on chromosomes 21 and 2 encoding for proteins ITSN1 and ITSN2, respectively. Each ITSN gene encodes two major isoforms, ITSN-Long (ITSN-L) and ITSN-Short (ITSN-S), due to alternative splicing. ITSN1 and 2, collectively referred to as ITSN, are implicated in many physiological and pathological proc...
Source: Biochemical Society Transactions - January 4, 2024 Category: Biochemistry Authors: Mubashir Mintoo Vinodh Rajagopalan John P O'Bryan Source Type: research

High mortality rate of preterm infants with Down syndrome
Pediatr Res. 2024 Jan 3. doi: 10.1038/s41390-023-03003-4. Online ahead of print.NO ABSTRACTPMID:38172214 | DOI:10.1038/s41390-023-03003-4 (Source: Pediatric Research)
Source: Pediatric Research - January 3, 2024 Category: Pediatrics Authors: Masahiko Kawai Source Type: research

EGCG-like non-competitive inhibitor of DYRK1A rescues cognitive defect in a down syndrome model
Eur J Med Chem. 2024 Jan 1;265:116098. doi: 10.1016/j.ejmech.2023.116098. Online ahead of print.ABSTRACTOverexpression of the chromosome 21 DYRK1A gene induces morphological defects and cognitive impairments in individuals with Down syndrome (DS) and in DS mice models. Aging neurons of specific brain regions of patients with Alzheimer's disease, DS and Pick's disease have increased DYRK1A immunoreactivity suggesting a possible association of DYRK1A with neurofibrillary tangle pathology. Epigallocatechin-3-gallate (EGCG) displays appreciable inhibition of DYRK1A activity and, contrary to all other published inhibitors, EGCG...
Source: European Journal of Medicinal Chemistry - January 3, 2024 Category: Chemistry Authors: Jean M Delabar Marco Ant ônio G B Gomes Marta Fructuoso Nad ège Sarrazin Nicolas George Nadia Fleary-Roberts Hua Sun Linh Chi Bui Fernando Rodrigues-Lima Nathalie Janel Julien Dairou Edmilson J Maria Robert H Dodd Kevin Cariou Marie-Claude Potier Source Type: research

Partial loss of Sorting Nexin 27 resembles age- and Down syndrome-associated T cell dysfunctions
Sorting Nexin 27 (SNX27)-retromer complex facilitates cargo recycling from endosomes to the plasma membrane. SNX27 downregulation in neurons, as the result of Trisomy 21 (T21), has been linked with cognitive d... (Source: Immunity and Aging)
Source: Immunity and Aging - January 2, 2024 Category: Geriatrics Authors: Cristina Rodriguez-Rodriguez, Natalia Gonz ález-Mancha, Ane Ochoa-Echeverría, Rosa Liébana and Isabel Merida Tags: Research Source Type: research

Identification of selective dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) inhibitors and their effects on tau and microtubule
In this study, we employed a structure-based virtual screening (SBVS) campaign targeting DYRK1A from a database containing 1.6 million compounds. Enzymatic assays were utilized to verify inhibitory properties, confirming that Y020-3945 and Y020-3957 showed inhibitory activity towards DYRK1A. In particular, the compounds exhibited high selectivity for DYRK1A over a panel of 120 kinases, reduced the phosphorylation of tau, and reversed the tubulin polymerization for microtubule stability. Additionally, treatment with the compounds significantly reduced the secretion of inflammatory cytokines IL-6 and TNF-α activated by DYRK...
Source: International Journal of Biological Macromolecules - January 1, 2024 Category: Biochemistry Authors: Yi-Wen Wu Wei-Chun HuangFu Tony Eight Lin Chao-Hiang Peng Huang-Ju Tu Ting-Yi Sung Tzu-Ying Sung Shih-Chung Yen Shiow-Lin Pan Kai-Cheng Hsu Source Type: research

Identification of selective dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) inhibitors and their effects on tau and microtubule
In this study, we employed a structure-based virtual screening (SBVS) campaign targeting DYRK1A from a database containing 1.6 million compounds. Enzymatic assays were utilized to verify inhibitory properties, confirming that Y020-3945 and Y020-3957 showed inhibitory activity towards DYRK1A. In particular, the compounds exhibited high selectivity for DYRK1A over a panel of 120 kinases, reduced the phosphorylation of tau, and reversed the tubulin polymerization for microtubule stability. Additionally, treatment with the compounds significantly reduced the secretion of inflammatory cytokines IL-6 and TNF-α activated by DYRK...
Source: International Journal of Biological Macromolecules - January 1, 2024 Category: Biochemistry Authors: Yi-Wen Wu Wei-Chun HuangFu Tony Eight Lin Chao-Hiang Peng Huang-Ju Tu Ting-Yi Sung Tzu-Ying Sung Shih-Chung Yen Shiow-Lin Pan Kai-Cheng Hsu Source Type: research

The circulating cells with blast-like morphology in transient abnormal myelopoiesis of Down syndrome are unique and deserve a specific name: Would the term "megakaryogones" serve this purpose?
Malays J Pathol. 2023 Dec;45(3):479-480.ABSTRACTNo abstract available.PMID:38155389 (Source: Malaysian Journal of Pathology)
Source: Malaysian Journal of Pathology - December 28, 2023 Category: Pathology Authors: S B Kahwash K Nicol Source Type: research

Prosodic skills in Spanish-speaking adolescents and young adults with Down syndrome
CONCLUSIONS & IMPLICATIONS: The findings contribute to the ongoing development of the language profile of teenagers and young adults with DS and imply the need to design prosodic intervention programs based on their specific profile.WHAT THIS PAPER ADDS: What is already known on the subject Prosody is a fundamental element of language, and its mastery affects the effectiveness of communication. However, research on prosody in Down syndrome (DS) that offers a holistic view from a psycholinguistic approach is still scarce. To date, studies focused on providing a detailed profile of prosodic skills in individuals with DS have...
Source: International Journal of Language and Communication Disorders - December 28, 2023 Category: Speech-Language Pathology Authors: Elena L ópez-Riobóo Pastora Mart ínez-Castilla Source Type: research

The circulating cells with blast-like morphology in transient abnormal myelopoiesis of Down syndrome are unique and deserve a specific name: Would the term "megakaryogones" serve this purpose?
Malays J Pathol. 2023 Dec;45(3):479-480.ABSTRACTNo abstract available.PMID:38155389 (Source: Malaysian Journal of Pathology)
Source: Malaysian Journal of Pathology - December 28, 2023 Category: Pathology Authors: S B Kahwash K Nicol Source Type: research

Prosodic skills in Spanish-speaking adolescents and young adults with Down syndrome
CONCLUSIONS & IMPLICATIONS: The findings contribute to the ongoing development of the language profile of teenagers and young adults with DS and imply the need to design prosodic intervention programs based on their specific profile.WHAT THIS PAPER ADDS: What is already known on the subject Prosody is a fundamental element of language, and its mastery affects the effectiveness of communication. However, research on prosody in Down syndrome (DS) that offers a holistic view from a psycholinguistic approach is still scarce. To date, studies focused on providing a detailed profile of prosodic skills in individuals with DS have...
Source: International Journal of Language and Communication Disorders - December 28, 2023 Category: Speech-Language Pathology Authors: Elena L ópez-Riobóo Pastora Mart ínez-Castilla Source Type: research

The circulating cells with blast-like morphology in transient abnormal myelopoiesis of Down syndrome are unique and deserve a specific name: Would the term "megakaryogones" serve this purpose?
Malays J Pathol. 2023 Dec;45(3):479-480.ABSTRACTNo abstract available.PMID:38155389 (Source: Malaysian Journal of Pathology)
Source: Malaysian Journal of Pathology - December 28, 2023 Category: Pathology Authors: S B Kahwash K Nicol Source Type: research

Prosodic skills in Spanish-speaking adolescents and young adults with Down syndrome
CONCLUSIONS & IMPLICATIONS: The findings contribute to the ongoing development of the language profile of teenagers and young adults with DS and imply the need to design prosodic intervention programs based on their specific profile.WHAT THIS PAPER ADDS: What is already known on the subject Prosody is a fundamental element of language, and its mastery affects the effectiveness of communication. However, research on prosody in Down syndrome (DS) that offers a holistic view from a psycholinguistic approach is still scarce. To date, studies focused on providing a detailed profile of prosodic skills in individuals with DS have...
Source: International Journal of Language and Communication Disorders - December 28, 2023 Category: Speech-Language Pathology Authors: Elena L ópez-Riobóo Pastora Mart ínez-Castilla Source Type: research