Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness
CONCLUSION: We review the clinical and genetic data of the 23 reported cases with the syndrome in the literature and analyze the etiopathogenic interpretation of our case variants based on the molecular and cellular functions of DDX11 described. Due to the clinical overlap with the chromosomal breakage syndromes and cohesinopathies we must make the differential diagnosis with these entities, overall, with Fanconi anemia, Nijmegen breakage syndrome, Cornelia de Lange syndrome and Roberts syndrome. In clinical practice we must think in Warsaw breakage syndrome in the neonatal period in a patient with intrauterine growth rest...
Source: Revista de Neurologia - January 27, 2023 Category: Neurology Authors: I Arroyo-Carrera M Solo de Zald ívar-Tristancho V D Garc ía Navas-Núñez A Ramajo-Polo M Guti érrez-Agujetas Source Type: research
Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness
CONCLUSION: We review the clinical and genetic data of the 23 reported cases with the syndrome in the literature and analyze the etiopathogenic interpretation of our case variants based on the molecular and cellular functions of DDX11 described. Due to the clinical overlap with the chromosomal breakage syndromes and cohesinopathies we must make the differential diagnosis with these entities, overall, with Fanconi anemia, Nijmegen breakage syndrome, Cornelia de Lange syndrome and Roberts syndrome. In clinical practice we must think in Warsaw breakage syndrome in the neonatal period in a patient with intrauterine growth rest...
Source: Revista de Neurologia - January 27, 2023 Category: Neurology Authors: I Arroyo-Carrera M Solo de Zald ívar-Tristancho V D Garc ía Navas-Núñez A Ramajo-Polo M Guti érrez-Agujetas Source Type: research
Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness
CONCLUSION: We review the clinical and genetic data of the 23 reported cases with the syndrome in the literature and analyze the etiopathogenic interpretation of our case variants based on the molecular and cellular functions of DDX11 described. Due to the clinical overlap with the chromosomal breakage syndromes and cohesinopathies we must make the differential diagnosis with these entities, overall, with Fanconi anemia, Nijmegen breakage syndrome, Cornelia de Lange syndrome and Roberts syndrome. In clinical practice we must think in Warsaw breakage syndrome in the neonatal period in a patient with intrauterine growth rest...
Source: Revista de Neurologia - January 27, 2023 Category: Neurology Authors: I Arroyo-Carrera M Solo de Zald ívar-Tristancho V D Garc ía Navas-Núñez A Ramajo-Polo M Guti érrez-Agujetas Source Type: research
Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness
CONCLUSION: We review the clinical and genetic data of the 23 reported cases with the syndrome in the literature and analyze the etiopathogenic interpretation of our case variants based on the molecular and cellular functions of DDX11 described. Due to the clinical overlap with the chromosomal breakage syndromes and cohesinopathies we must make the differential diagnosis with these entities, overall, with Fanconi anemia, Nijmegen breakage syndrome, Cornelia de Lange syndrome and Roberts syndrome. In clinical practice we must think in Warsaw breakage syndrome in the neonatal period in a patient with intrauterine growth rest...
Source: Revista de Neurologia - January 27, 2023 Category: Neurology Authors: I Arroyo-Carrera M Solo de Zald ívar-Tristancho V D Garc ía Navas-Núñez A Ramajo-Polo M Guti érrez-Agujetas Source Type: research
Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness
CONCLUSION: We review the clinical and genetic data of the 23 reported cases with the syndrome in the literature and analyze the etiopathogenic interpretation of our case variants based on the molecular and cellular functions of DDX11 described. Due to the clinical overlap with the chromosomal breakage syndromes and cohesinopathies we must make the differential diagnosis with these entities, overall, with Fanconi anemia, Nijmegen breakage syndrome, Cornelia de Lange syndrome and Roberts syndrome. In clinical practice we must think in Warsaw breakage syndrome in the neonatal period in a patient with intrauterine growth rest...
Source: Revista de Neurologia - January 27, 2023 Category: Neurology Authors: I Arroyo-Carrera M Solo de Zald ívar-Tristancho V D Garc ía Navas-Núñez A Ramajo-Polo M Guti érrez-Agujetas Source Type: research
Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness
CONCLUSION: We review the clinical and genetic data of the 23 reported cases with the syndrome in the literature and analyze the etiopathogenic interpretation of our case variants based on the molecular and cellular functions of DDX11 described. Due to the clinical overlap with the chromosomal breakage syndromes and cohesinopathies we must make the differential diagnosis with these entities, overall, with Fanconi anemia, Nijmegen breakage syndrome, Cornelia de Lange syndrome and Roberts syndrome. In clinical practice we must think in Warsaw breakage syndrome in the neonatal period in a patient with intrauterine growth rest...
Source: Revista de Neurologia - January 27, 2023 Category: Neurology Authors: I Arroyo-Carrera M Solo de Zald ívar-Tristancho V D Garc ía Navas-Núñez A Ramajo-Polo M Guti érrez-Agujetas Source Type: research
Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness
CONCLUSION: We review the clinical and genetic data of the 23 reported cases with the syndrome in the literature and analyze the etiopathogenic interpretation of our case variants based on the molecular and cellular functions of DDX11 described. Due to the clinical overlap with the chromosomal breakage syndromes and cohesinopathies we must make the differential diagnosis with these entities, overall, with Fanconi anemia, Nijmegen breakage syndrome, Cornelia de Lange syndrome and Roberts syndrome. In clinical practice we must think in Warsaw breakage syndrome in the neonatal period in a patient with intrauterine growth rest...
Source: Revista de Neurologia - January 27, 2023 Category: Neurology Authors: I Arroyo-Carrera M Solo de Zald ívar-Tristancho V D Garc ía Navas-Núñez A Ramajo-Polo M Guti érrez-Agujetas Source Type: research
Health Systems —The Present and the Future
For better or worse, independent medical practices and solo community hospitals are disappearing as they are acquired by hospital-based health systems. In this issue of JAMA, Beaulieu et al provide a detailed review of the current (2018) prevalence and performance of the 580 health systems they identified in the US. They found that 84% of general acute care hospital beds and 40% of physicians were part of health systems. These findings are compatible with those of Furukawa et al, who used a somewhat different method to identify 637 systems in 2018 that included 91% of US hospital beds and 51% of physicians, marking increas...
Source: JAMA - January 24, 2023 Category: General Medicine Source Type: research
You Have Been Hacked!
Ann Fam Med. 2023 Jan-Feb;21(1):85-87. doi: 10.1370/afm.2906.ABSTRACTOn October 31, 2021, I learned the electronic health record in my independent, solo practice had been attacked by a Russian syndicate who was holding our data and our practice management system for "ransom." An encryption key could be given to our cloud provider once $5,100,000 was delivered in bitcoin to the hacking entity. After 3 long months of negotiations, with us going back to a completely paper-based system in the interim, our cloud provider paid the Russian syndicate and access was restored. There were many lessons to be learned from our experienc...
Source: Annals of Family Medicine - January 23, 2023 Category: Primary Care Authors: Ed Bujold Source Type: research
The Nuts and Bolts of Implementing a Modified ERAS Protocol for Minimally Invasive Colorectal Surgery: Group Practice vs. Solo Practice
J Clin Med. 2022 Nov 26;11(23):6992. doi: 10.3390/jcm11236992.NO ABSTRACTPMID:36498566 | DOI:10.3390/jcm11236992 (Source: Clinical Colorectal Cancer)
Source: Clinical Colorectal Cancer - December 11, 2022 Category: Cancer & Oncology Authors: Zhen-Hao Yu Yih-Jong Chern Yu-Jen Hsu Bor-Kang Jong Wen-Sy Tsai Pao-Shiu Hsieh Ching-Chung Cheng Jeng-Fu You Source Type: research
The Nuts and Bolts of Implementing a Modified ERAS Protocol for Minimally Invasive Colorectal Surgery: Group Practice vs. Solo Practice
J Clin Med. 2022 Nov 26;11(23):6992. doi: 10.3390/jcm11236992.NO ABSTRACTPMID:36498566 | PMC:PMC9739177 | DOI:10.3390/jcm11236992 (Source: Clinical Colorectal Cancer)
Source: Clinical Colorectal Cancer - December 11, 2022 Category: Cancer & Oncology Authors: Zhen-Hao Yu Yih-Jong Chern Yu-Jen Hsu Bor-Kang Jong Wen-Sy Tsai Pao-Shiu Hsieh Ching-Chung Cheng Jeng-Fu You Source Type: research
Immune-Response Modifiers: Characteristics of High-Volume Prescribers
CONCLUSION: The 4 years' post-residency may be instrumental in helping providers become more comfortable in prescribing high volumes of biologic immune modifiers and OSMs. In addition, the higher volume prescriptions of both immune response modifiers by males may be due to males being more risk tolerant. J Drugs Dermatol. 2022;21(12):1283-1288. doi:10.36849/JDD.6891R1.PMID:36468964 | DOI:10.36849/JDD.6894 (Source: Journal of Drugs in Dermatology)
Source: Journal of Drugs in Dermatology - December 5, 2022 Category: Dermatology Authors: Pushkar Aggarwal Alan Fleischer Source Type: research
