OSMED, or, otospondylomegaepiphyseal dysplasia, is a rare congenital condition with vertebral body anomalies, sensorineural hearing loss, enlarged epiphyses, and skeletal dysplasia as its characteristic features. It can be caused by autosomal recessive or dominant-negative mutations that disrupt collagen XI synthesis. The clinical phenotype and typical radiographic findings are used to make the diagnosis. Only symptomatic […]
Results to be reviewed during 2023 Myotonic Dystrophy Annual Conference show statistically and clinically significant efficacy benefits in multiple areas including cognitive performance, reduction in biomarkers and improvements in walk/run measurements. AMO-02 was safe and well tolerated during the study with no SAEs related to treatment. Primary outcome measure based on clinician administered subjective rating showed […]
Global Molecular Diagnostics Market Overview 2023-2028 The global molecular diagnostics market size reached US$ 18.5 Billion in 2022. Looking forward, IMARC Group expects the market to reach US$ 27.4 Billion by 2028, exhibiting a growth rate (CAGR) of 6.5% during 2023-2028. Molecular diagnostics is a specialized field within medical testing dedicated to the detection and […]
Abstract tRNA-histidine guanyltransferase 1-like protein (THG1L), located in the mitochondria, plays a crucial role in the tRNA maturation process. Dysfunction of THG1L results in abnormal mitochondrial tRNA modification and neurodevelopmental disorders. To date, few studies have focused on THG1L-related cerebellar ataxia. Whole-exome sequencing revealed compound heterozygous variants NM_017872.5: [c.224A > G]; [c.369-8T > G] in THG1L in a 6-year-old […]
New York, USA, Sept. 05, 2023 (GLOBE NEWSWIRE) — Chronic Pulmonary Hypertension Market is Likely to Increase at a Steady Growth Rate by 2032, Examines DelveInsight | Leading Companies – Attgeno, Cereno, Merck, Bellerophon, United Therapeutics, AbbVie, Tenax, Insmed The chronic pulmonary hypertension market is anticipating the game changer in the market for the treatment […]
Abstract Physiological muscle contraction requires an intact ligand gating mechanism of the ryanodine receptor 1 (RyR1), the Ca2+-release channel of the sarcoplasmic reticulum. Some mutations impair the gating and thus cause muscle disease. The RyR1 mutation T4706M is linked to a myopathy characterized by muscle weakness. Although, low expression of the T4706M RyR1 protein can […]
Covina, Sept. 05, 2023 (GLOBE NEWSWIRE) — Neonatal intensive care unit is also called as a newborn intensive care unit (NICU) or intensive care nursery (ICN) and equipped with incubators, oxygen hood, ventilator, blood pressure monitor, and other equipment. Growing prevalence of respiratory diseases in newborn babies has given positive impact on target market growth. Further, […]
Pneumococcal Vaccines and Administration One PPSV and three PCVs are licensed and available for use in the United States (Table 1). These vaccines are PPSV23 (Pneumovax23), a 23-valent pneumococcal polysaccharide vaccine; PCV13 (Prevnar13), a 13-valent pneumococcal conjugate vaccine; PCV15 (Vaxneuvance), 15-valent pneumococcal conjugate vaccine; and PCV20 (Prevnar20), a 20-valent pneumococcal conjugate vaccine. The PPSV and […]
The research focuses on analyzing the Orthobiologics Market, specifically its dimensions and potential for future growth across various categories, including delivery methods, target consumers, and geographical regions. The assessment of Orthobiologics Market size spans from the year 2023 to 2032 as the reference period. The second component of our research methodology involves the examination and […]
The research focuses on analyzing the Structural Heart Devices Market, specifically its dimensions and potential for future growth across various categories, including delivery methods, target consumers, and geographical regions. The assessment of Structural Heart Devices Market size spans from the year 2023 to 2032 as the reference period. The second component of our research methodology […]