PRKD1-related Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: case report and review of the literature
We report on the 8th patient carrying a heterozygous de novo variation of PRKD1 c.2134G>A, p.(Val712Met) identified by trio exome sequencing. The proband presents with partial atrioventricular septal defect, brachydactyly, ectodermal dysplasia, telangiectasia that developed in childhood, intellectual disability with microcephaly, multicystic renal dysplasia and moderate hormonal resistance. In view of this 8th description and review of the literature, it appears that neurodevelopmental disorders and microcephaly are frequently associated with PRKD1 missense variants, adding to the four main clinical signs described init...
Source: European Journal of Medical Genetics - April 27, 2024 Category: Genetics & Stem Cells Authors: Fiona Leduc Thomas Smol Benoit Catteau Odile Boute Florence Petit Source Type: research
Nelotanserin, a selective 5-HT2A receptor inverse agonist, attenuates aspects of nicotine withdrawal but not reward in mice
Behav Brain Res. 2024 Apr 25:115019. doi: 10.1016/j.bbr.2024.115019. Online ahead of print.ABSTRACTNicotine smoking contributes to many preventable disabilities, diseases and deaths. Targeting nicotine reward and withdrawal is a basis for the majority of smoking cessation pharmacotherapies. Due to the emergence of interest in 5-HT2A receptor modulators for numerous psychiatric disorders, we investigated the effect of nelotanserin, a 5-HT2A receptor inverse agonist, on nicotine reward and withdrawal in ICR mice. In nicotine-dependent mice, nelotanserin dose-dependently reduced somatic signs of nicotine withdrawal and therma...
Source: Behavioural Brain Research - April 27, 2024 Category: Neurology Authors: Belle Buzzi Shakir D AlSharari David M Walentiny M Imad Damaj Source Type: research
Nelotanserin, a selective 5-HT2A receptor inverse agonist, attenuates aspects of nicotine withdrawal but not reward in mice
Behav Brain Res. 2024 Apr 25:115019. doi: 10.1016/j.bbr.2024.115019. Online ahead of print.ABSTRACTNicotine smoking contributes to many preventable disabilities, diseases and deaths. Targeting nicotine reward and withdrawal is a basis for the majority of smoking cessation pharmacotherapies. Due to the emergence of interest in 5-HT2A receptor modulators for numerous psychiatric disorders, we investigated the effect of nelotanserin, a 5-HT2A receptor inverse agonist, on nicotine reward and withdrawal in ICR mice. In nicotine-dependent mice, nelotanserin dose-dependently reduced somatic signs of nicotine withdrawal and therma...
Source: Brain Research - April 27, 2024 Category: Neurology Authors: Belle Buzzi Shakir D AlSharari David M Walentiny M Imad Damaj Source Type: research
Postoperative Morbidity after Dental Treatment under General Anesthesia in Children with and without Disabilities
Conclusions: CD more frequently reported complications like oral bleeding, fever, and diarrhea. In contrast, the CTL group more often reported pain-related symptoms. The conclusion underscores the need for a pain control protocol for CD and emphasizes the importance of frequent monitoring to prevent unwanted consequences during tooth restoration under general anesthesia.PMID:38674314 | PMC:PMC11051803 | DOI:10.3390/medicina60040668 (Source: Medicina (Kaunas))
Source: Medicina (Kaunas) - April 27, 2024 Category: Universities & Medical Training Authors: Marija Šimunović-Erpušina Danko Bakar čić Odri Cicvari ć Luka Šimunović Vlatka Soto šek Dorotea Petrovi ć Nata ša Ivančić Jokić Source Type: research
Percutaneous tendon dry needling and thrust manipulation as an adjunct to multimodal physical therapy in patients with lateral elbow tendinopathy: A multicenter randomized clinical trial
CONCLUSIONS: The inclusion of percutaneous tendon electrical dry needling and thrust manipulation into a multimodal program of exercise, mobilization and ultrasound was more effective than multimodal physical therapy alone in individuals with lateral elbow tendinopathy.Trial Registration: www.clinicaltrials.gov NCT03167710 May 30, 2017.PMID:38676324 | DOI:10.1177/02692155241249968 (Source: Clinical Rehabilitation)
Source: Clinical Rehabilitation - April 27, 2024 Category: Rehabilitation Authors: James Dunning Firas Mourad Paul Bliton Casey Charlebois Patrick Gorby Noah Zacharko Brus Layson Filippo Maselli Ian Young C ésar Fernández-de-Las-Peñas Source Type: research
Towards person-centred work-focused healthcare for people with cardiovascular disease: a qualitative exploration of patients' experiences and needs
CONCLUSIONS: The identified experiences and needs for work-focused healthcare of patients experiencing problems with work participation due to cardiovascular disease clearly indicate the need to improve the delivery of person-centred work-focused healthcare to better meet the individual needs of patients.PMID:38676465 | DOI:10.1080/09638288.2024.2344653 (Source: Disability and Rehabilitation)
Source: Disability and Rehabilitation - April 27, 2024 Category: Rehabilitation Authors: Marije E Hagendijk Nina Zipfel Marijke Melles Philip J van der Wees Carel T J Hulshof Ersen B Çölkesen Jan L Hoving Sylvia J van der Burg-Vermeulen Source Type: research
Exploring Allied Health Models of Care for Children with Developmental Health Concerns, Delays, and Disabilities in Rural and Remote Areas: A Systematic Scoping Review
CONCLUSIONS: Multiple models of care are currently in operation for children with developmental needs in rural and remote areas and appear to improve the quality of care. Due to complexities within, and limitations of, the evidence base, it is unclear if one model of care is superior to another. This review provides a basis for further research to explore why some models may be more effective than others.PMID:38673418 | DOI:10.3390/ijerph21040507 (Source: Rural Remote Health)
Source: Rural Remote Health - April 27, 2024 Category: Rural Health Authors: Georgia Gosse Saravana Kumar Helen Banwell Anna Moran Source Type: research
Design, Synthesis, and Biological Evaluation of Novel Cinnamide Derivatives as Neuroprotective Agents for the Treatment of Cerebral Ischemia
CONCLUSION: Compounds 9t, 9u, 9y, and 9z, as potent neuroprotective agents with anti- neurotoxicity activity in vitro and anticerebral infarction efficacy in vivo, might serve as a useful molecular tool for further physiology and pathophysiology function studies, leading to potential clinical therapeutic agents for ischemic injury.PMID:38676480 | DOI:10.2174/0109298673302111240418060441 (Source: Current Medicinal Chemistry)
Source: Current Medicinal Chemistry - April 27, 2024 Category: Chemistry Authors: Yan Zhong Yi Xu Xin-Zhu Tan Yu-Ying Wang Shuang-Yan Ma Meng-Jie Gao Bin Wu Source Type: research
PRKD1-related Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: case report and review of the literature
We report on the 8th patient carrying a heterozygous de novo variation of PRKD1 c.2134G>A, p.(Val712Met) identified by trio exome sequencing. The proband presents with partial atrioventricular septal defect, brachydactyly, ectodermal dysplasia, telangiectasia that developed in childhood, intellectual disability with microcephaly, multicystic renal dysplasia and moderate hormonal resistance. In view of this 8th description and review of the literature, it appears that neurodevelopmental disorders and microcephaly are frequently associated with PRKD1 missense variants, adding to the four main clinical signs described init...
Source: European Journal of Medical Genetics - April 27, 2024 Category: Genetics & Stem Cells Authors: Fiona Leduc Thomas Smol Benoit Catteau Odile Boute Florence Petit Source Type: research
Combined with the first dorsal (plantar) metatarsal artery pedicle free bilobed flap with a cell scaffold for the repair of a mid-distal adjacent finger defect: a retrospective study
CONCLUSION: The surgical procedure of combined with the first dorsal (plantar) metatarsal artery pedicle free bilobed flap with a cell scaffold for the repair of mid-distal adjacent fingers defect is highly satisfactory. This approach helps the injured fingers to achieve good function, sensibility and appearance, while also achieving satisfactory results in the donor toes.PMID:38678260 | DOI:10.1186/s13018-024-04656-5 (Source: Hand Surgery)
Source: Hand Surgery - April 27, 2024 Category: Surgery Authors: Meng Ge Zhijin Zhang Guohua Ren Shenghu Hong Cheng Chen Jun Yang Qiao Hou Hongmei Fu Source Type: research
Percutaneous tendon dry needling and thrust manipulation as an adjunct to multimodal physical therapy in patients with lateral elbow tendinopathy: A multicenter randomized clinical trial
CONCLUSIONS: The inclusion of percutaneous tendon electrical dry needling and thrust manipulation into a multimodal program of exercise, mobilization and ultrasound was more effective than multimodal physical therapy alone in individuals with lateral elbow tendinopathy.Trial Registration: www.clinicaltrials.gov NCT03167710 May 30, 2017.PMID:38676324 | DOI:10.1177/02692155241249968 (Source: Clinical Rehabilitation)
Source: Clinical Rehabilitation - April 27, 2024 Category: Rehabilitation Authors: James Dunning Firas Mourad Paul Bliton Casey Charlebois Patrick Gorby Noah Zacharko Brus Layson Filippo Maselli Ian Young C ésar Fernández-de-Las-Peñas Source Type: research
Postoperative Morbidity after Dental Treatment under General Anesthesia in Children with and without Disabilities
Conclusions: CD more frequently reported complications like oral bleeding, fever, and diarrhea. In contrast, the CTL group more often reported pain-related symptoms. The conclusion underscores the need for a pain control protocol for CD and emphasizes the importance of frequent monitoring to prevent unwanted consequences during tooth restoration under general anesthesia.PMID:38674314 | DOI:10.3390/medicina60040668 (Source: Medicina (Kaunas))
Source: Medicina (Kaunas) - April 27, 2024 Category: Universities & Medical Training Authors: Marija Šimunović-Erpušina Danko Bakar čić Odri Cicvari ć Luka Šimunović Vlatka Soto šek Dorotea Petrovi ć Nata ša Ivančić Jokić Source Type: research
Towards person-centred work-focused healthcare for people with cardiovascular disease: a qualitative exploration of patients' experiences and needs
CONCLUSIONS: The identified experiences and needs for work-focused healthcare of patients experiencing problems with work participation due to cardiovascular disease clearly indicate the need to improve the delivery of person-centred work-focused healthcare to better meet the individual needs of patients.PMID:38676465 | DOI:10.1080/09638288.2024.2344653 (Source: Disability and Rehabilitation)
Source: Disability and Rehabilitation - April 27, 2024 Category: Rehabilitation Authors: Marije E Hagendijk Nina Zipfel Marijke Melles Philip J van der Wees Carel T J Hulshof Ersen B Çölkesen Jan L Hoving Sylvia J van der Burg-Vermeulen Source Type: research
Nelotanserin, a selective 5-HT2A receptor inverse agonist, attenuates aspects of nicotine withdrawal but not reward in mice
Behav Brain Res. 2024 Apr 25:115019. doi: 10.1016/j.bbr.2024.115019. Online ahead of print.ABSTRACTNicotine smoking contributes to many preventable disabilities, diseases and deaths. Targeting nicotine reward and withdrawal is a basis for the majority of smoking cessation pharmacotherapies. Due to the emergence of interest in 5-HT2A receptor modulators for numerous psychiatric disorders, we investigated the effect of nelotanserin, a 5-HT2A receptor inverse agonist, on nicotine reward and withdrawal in ICR mice. In nicotine-dependent mice, nelotanserin dose-dependently reduced somatic signs of nicotine withdrawal and therma...
Source: Brain Research - April 27, 2024 Category: Neurology Authors: Belle Buzzi Shakir D AlSharari David M Walentiny M Imad Damaj Source Type: research
Nelotanserin, a selective 5-HT2A receptor inverse agonist, attenuates aspects of nicotine withdrawal but not reward in mice
Behav Brain Res. 2024 Apr 25:115019. doi: 10.1016/j.bbr.2024.115019. Online ahead of print.ABSTRACTNicotine smoking contributes to many preventable disabilities, diseases and deaths. Targeting nicotine reward and withdrawal is a basis for the majority of smoking cessation pharmacotherapies. Due to the emergence of interest in 5-HT2A receptor modulators for numerous psychiatric disorders, we investigated the effect of nelotanserin, a 5-HT2A receptor inverse agonist, on nicotine reward and withdrawal in ICR mice. In nicotine-dependent mice, nelotanserin dose-dependently reduced somatic signs of nicotine withdrawal and therma...
Source: Behavioural Brain Research - April 27, 2024 Category: Neurology Authors: Belle Buzzi Shakir D AlSharari David M Walentiny M Imad Damaj Source Type: research
