Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, caf é-au-lait spots, and metabolic abnormality
CONCLUSION: This study expands the genotypic and phenotypic spectrum of TNRC6B deficiency syndrome. Our findings indicate that patients with TNRC6B deficiency syndrome should be monitored for growth and metabolic problems and therapeutic strategies should be developed to address these problems. Our report also suggests the clinical diversity of TNRC6B deficiency syndrome.PMID:38404251 | PMC:PMC10895380 | DOI:10.1002/mgg3.2408 (Source: Molecular Medicine)
Source: Molecular Medicine - February 26, 2024 Category: Molecular Biology Authors: Qi Yang Shan Ou Xunzhao Zhou Sheng Yi Li Lin Shang Yi Shujie Zhang Zailong Qin Jingsi Luo Source Type: research

An unusual ophthalmologic finding in a patient with congenital central hypoventilation syndrome
CONCLUSIONS: Ophthalmologic abnormalities are common in patients with CCHS and include horizontal strabismus, pupil and iris abnormalities and ptosis. To the best of our knowledge, this is the first report of MED in association with CCHS. Further studies are needed to determine if an association between MED and CCHS exists or is just a casual finding in this case.PMID:38403966 | DOI:10.1177/11206721241235241 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - February 26, 2024 Category: Opthalmology Authors: V íctor Aguado-Casanova Diana P érez-García Marta Orejudo-Rivas Patricia Ramiro-Mill án Juan Iba ñez-Alperte Cristina Calvo-Simon Leon Rem ón Source Type: research

Sensors, Vol. 24, Pages 1438: Exploring the Beam Squint Effects on Reflectarray Performance: A Comprehensive Analysis of the Specular and Scattered Reflection of the Unit Cell
browska In this article, the phenomena of beam deviation in reflectarray is discussed. The radiation pattern of the unit cell, which plays a vital role in shaping the beam of the reflectarray, is analyzed by considering undesired specular and scattered reflections. These unwanted reflections adversely affect the pattern of the single unit cell, thereby reducing the overall performance of the reflectarray. To conduct our investigations, three cases of reflectarray—i.e., (i) a center-fed with broadside beam (Case-I), (ii) a center-fed with the beam at 30° (Case-II), and (iii) off-center-fed with...
Source: Sensors - February 23, 2024 Category: Biotechnology Authors: Manzoor Elahi Amir Altaf Slawomir Koziel Anna Pietrenko-Dabrowska Tags: Article Source Type: research

Overcoming Beam Squint in mmWave MIMO Channel Estimation: A Bayesian Multi-Band Sparsity Approach
The beam squint effect, which manifests in different steering matrices in different sub-bands, has been widely considered a challenge in millimeter wave (mmWave) multi-input multi-output (MIMO) channel estimation. Existing methods either require specific forms of the precoding/combining matrix, which restrict their general practicality, or simply ignore the beam squint effect by only making use of a single sub-band for channel estimation. Recognizing that different steering matrices are coupled by the same set of unknown channel parameters, this paper proposes to exploit the common sparsity structure of the virtual channel...
Source: IEEE Transactions on Signal Processing - February 22, 2024 Category: Biomedical Engineering Source Type: research

Appraising and highlighting gaps among prophylactic intervention studies for reducing the incidence of postoperative nausea and vomiting in children: a systematic review
Conclusion Monotherapy pharmacological prophylaxis is more effective than placebo in reducing the incidence of paediatric PONV, with the efficacy increased further by using combination pharmacotherapy. Further research must compare multiple treatment arms of pharmacological and non-pharmacological prophylaxes for PONV to identify the optimal multimodal prophylaxis regimen. PROSPERO registration number CRD42021236698. (Source: BMJ Open)
Source: BMJ Open - February 22, 2024 Category: General Medicine Authors: Pankiv, E., Nghiem, J., Albornoz, A. E., Rana, M., Petre, M.-A., Englesakis, M., Hayes, J., Mc Donnell, C., Aoyama, K. Tags: Open access, Anaesthesia Source Type: research

Trends and patterns in pediatric ophthalmology and strabismus surgeries: a decade review from a leading Portuguese university hospital
CONCLUSION: The study's insights, while aligning with prior European research, introduce new dimensions to the understanding of strabismus surgeries, emphasizing the significance of early interventions, evolving surgical preferences, and the challenges posed by severe deviations.PMID:38380608 | DOI:10.1080/09273972.2024.2317221 (Source: Strabismus)
Source: Strabismus - February 21, 2024 Category: Research Authors: Paulo Freitas-da-Costa Fernando Falc ão-Reis Augusto Magalh ães Source Type: research

Pediatric myopic strabismus fixus: clinical features and surgical outcomes of silicone band loop myopexy
CONCLUSION: The clinical profile of MSF in children is almost similar to adults. This condition is a rare entity among adults as well as children. Majority of children with MSF presented with esotropia-hypotropia complex. Silicone band loop myopexy with or without medial rectus recession proves to be a reliable surgical procedure as it provides stable outcomes in terms of ocular alignment and motility among children.PMID:38380479 | DOI:10.1080/09273972.2024.2306348 (Source: Strabismus)
Source: Strabismus - February 21, 2024 Category: Research Authors: Sakshi Lalwani Virender Sachdeva Ramesh Kekunnaya Source Type: research

Trends and patterns in pediatric ophthalmology and strabismus surgeries: a decade review from a leading Portuguese university hospital
CONCLUSION: The study's insights, while aligning with prior European research, introduce new dimensions to the understanding of strabismus surgeries, emphasizing the significance of early interventions, evolving surgical preferences, and the challenges posed by severe deviations.PMID:38380608 | DOI:10.1080/09273972.2024.2317221 (Source: Strabismus)
Source: Strabismus - February 21, 2024 Category: Research Authors: Paulo Freitas-da-Costa Fernando Falc ão-Reis Augusto Magalh ães Source Type: research

Pediatric myopic strabismus fixus: clinical features and surgical outcomes of silicone band loop myopexy
CONCLUSION: The clinical profile of MSF in children is almost similar to adults. This condition is a rare entity among adults as well as children. Majority of children with MSF presented with esotropia-hypotropia complex. Silicone band loop myopexy with or without medial rectus recession proves to be a reliable surgical procedure as it provides stable outcomes in terms of ocular alignment and motility among children.PMID:38380479 | DOI:10.1080/09273972.2024.2306348 (Source: Strabismus)
Source: Strabismus - February 21, 2024 Category: Research Authors: Sakshi Lalwani Virender Sachdeva Ramesh Kekunnaya Source Type: research

Trends and patterns in pediatric ophthalmology and strabismus surgeries: a decade review from a leading Portuguese university hospital
CONCLUSION: The study's insights, while aligning with prior European research, introduce new dimensions to the understanding of strabismus surgeries, emphasizing the significance of early interventions, evolving surgical preferences, and the challenges posed by severe deviations.PMID:38380608 | DOI:10.1080/09273972.2024.2317221 (Source: Strabismus)
Source: Strabismus - February 21, 2024 Category: Research Authors: Paulo Freitas-da-Costa Fernando Falc ão-Reis Augusto Magalh ães Source Type: research

Pediatric myopic strabismus fixus: clinical features and surgical outcomes of silicone band loop myopexy
CONCLUSION: The clinical profile of MSF in children is almost similar to adults. This condition is a rare entity among adults as well as children. Majority of children with MSF presented with esotropia-hypotropia complex. Silicone band loop myopexy with or without medial rectus recession proves to be a reliable surgical procedure as it provides stable outcomes in terms of ocular alignment and motility among children.PMID:38380479 | DOI:10.1080/09273972.2024.2306348 (Source: Strabismus)
Source: Strabismus - February 21, 2024 Category: Research Authors: Sakshi Lalwani Virender Sachdeva Ramesh Kekunnaya Source Type: research

Trends and patterns in pediatric ophthalmology and strabismus surgeries: a decade review from a leading Portuguese university hospital
CONCLUSION: The study's insights, while aligning with prior European research, introduce new dimensions to the understanding of strabismus surgeries, emphasizing the significance of early interventions, evolving surgical preferences, and the challenges posed by severe deviations.PMID:38380608 | DOI:10.1080/09273972.2024.2317221 (Source: Strabismus)
Source: Strabismus - February 21, 2024 Category: Research Authors: Paulo Freitas-da-Costa Fernando Falc ão-Reis Augusto Magalh ães Source Type: research

Pediatric myopic strabismus fixus: clinical features and surgical outcomes of silicone band loop myopexy
CONCLUSION: The clinical profile of MSF in children is almost similar to adults. This condition is a rare entity among adults as well as children. Majority of children with MSF presented with esotropia-hypotropia complex. Silicone band loop myopexy with or without medial rectus recession proves to be a reliable surgical procedure as it provides stable outcomes in terms of ocular alignment and motility among children.PMID:38380479 | DOI:10.1080/09273972.2024.2306348 (Source: Strabismus)
Source: Strabismus - February 21, 2024 Category: Research Authors: Sakshi Lalwani Virender Sachdeva Ramesh Kekunnaya Source Type: research

Trends and patterns in pediatric ophthalmology and strabismus surgeries: a decade review from a leading Portuguese university hospital
CONCLUSION: The study's insights, while aligning with prior European research, introduce new dimensions to the understanding of strabismus surgeries, emphasizing the significance of early interventions, evolving surgical preferences, and the challenges posed by severe deviations.PMID:38380608 | DOI:10.1080/09273972.2024.2317221 (Source: Strabismus)
Source: Strabismus - February 21, 2024 Category: Research Authors: Paulo Freitas-da-Costa Fernando Falc ão-Reis Augusto Magalh ães Source Type: research

Pediatric myopic strabismus fixus: clinical features and surgical outcomes of silicone band loop myopexy
CONCLUSION: The clinical profile of MSF in children is almost similar to adults. This condition is a rare entity among adults as well as children. Majority of children with MSF presented with esotropia-hypotropia complex. Silicone band loop myopexy with or without medial rectus recession proves to be a reliable surgical procedure as it provides stable outcomes in terms of ocular alignment and motility among children.PMID:38380479 | DOI:10.1080/09273972.2024.2306348 (Source: Strabismus)
Source: Strabismus - February 21, 2024 Category: Research Authors: Sakshi Lalwani Virender Sachdeva Ramesh Kekunnaya Source Type: research