Search

Your search keyword '"Bettale C"' showing total 4 results
Start Over Author "Bettale C"
4 results on '"Bettale C"'

1. Clinical and molecular spectrum of CHOPS syndrome

Author

Raible, SE, Mehta, D, Bettale, C, Fiordaliso, S, Kaur, M, Medne, L, Rio, M, Haan, E, White, SM, Cusmano-Ozog, K, Nishi, E, Guo, Y, Wu, H, Shi, X, Zhao, Q, Zhang, X, Lei, Q, Lu, A, He, X, Okamoto, N, Miyake, N, Piccione, J, Allen, J, Matsumoto, N, Pipan, M, Krantz, ID, Izumi, K, Raible, SE, Mehta, D, Bettale, C, Fiordaliso, S, Kaur, M, Medne, L, Rio, M, Haan, E, White, SM, Cusmano-Ozog, K, Nishi, E, Guo, Y, Wu, H, Shi, X, Zhao, Q, Zhang, X, Lei, Q, Lu, A, He, X, Okamoto, N, Miyake, N, Piccione, J, Allen, J, Matsumoto, N, Pipan, M, Krantz, ID, and Izumi, K

Abstract

CHOPS syndrome is a multisystem disorder caused by missense mutations in AFF4. Previously, we reported three individuals whose primary phenotype included cognitive impairment and coarse facies, heart defects, obesity, pulmonary involvement, and short stature. This syndrome overlaps phenotypically with Cornelia de Lange syndrome, but presents distinct differences including facial features, pulmonary involvement, and obesity. Here, we provide clinical descriptions of an additional eight individuals with CHOPS syndrome, as well as neurocognitive analysis of three individuals. All 11 individuals presented with features reminiscent of Cornelia de Lange syndrome such as synophrys, upturned nasal tip, arched eyebrows, and long eyelashes. All 11 individuals had short stature and obesity. Congenital heart disease and pulmonary involvement were common, and those were seen in about 70% of individuals with CHOPS syndrome. Skeletal abnormalities are also common, and those include abnormal shape of vertebral bodies, hypoplastic long bones, and low bone mineral density. Our observation indicates that obesity, pulmonary involvement, skeletal findings are the most notable features distinguishing CHOPS syndrome from Cornelia de Lange syndrome. In fact, two out of eight of our newly identified patients were found to have AFF4 mutations by targeted AFF4 mutational analysis rather than exome sequencing. These phenotypic findings establish CHOPS syndrome as a distinct, clinically recognizable disorder. Additionally, we report three novel missense mutations causative for CHOPS syndrome that lie within the highly conserved, 14 amino acid sequence of the ALF homology domain of the AFF4 gene, emphasizing the critical functional role of this region in human development.

Published
2019

2. A Case of Concurrent Mpox and Chlamydial Proctitis in a Patient With HIV.

Author

Ibrahim R, Pressman A, Hicks K, Brooks CG, Bettale C, Nave J, Bello H, and Dressler D

Abstract

The monkeypox (mpox) outbreak that began in May 2022 spread globally with a wide range of presentations. Mpox proctitis has been recognized as one of the severe forms of the virus during this outbreak. We present the case of a 33-year-old male with well-controlled HIV engaging in receptive anal intercourse presented with profuse rectal bleeding, tenesmus, and anal pain in July 2022. His symptoms persisted despite treatment for his rectal chlamydia with doxycycline. Rectal imaging with computed tomography demonstrated impressive inflammation. Contrast-enhanced images highlighted rectal wall thickening and submucosal edema. Diffuse lymphadenopathy of the anorectal region was also clearly seen. He received symptomatic treatment with tecovirimat resulting in the resolution of his symptoms and complaints. Subsequent rectal imaging displayed improvement and decreased inflammation. A better understanding of various presentations, imaging characteristics, and management is necessary to curb further dissemination., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Ibrahim et al.)

Published
2023
Full Text
View/download PDF

3. Clinical and molecular spectrum of CHOPS syndrome.

Author

Raible SE, Mehta D, Bettale C, Fiordaliso S, Kaur M, Medne L, Rio M, Haan E, White SM, Cusmano-Ozog K, Nishi E, Guo Y, Wu H, Shi X, Zhao Q, Zhang X, Lei Q, Lu A, He X, Okamoto N, Miyake N, Piccione J, Allen J, Matsumoto N, Pipan M, Krantz ID, and Izumi K

Subjects
Adolescent, Amino Acid Sequence, Child, Child, Preschool, Craniofacial Abnormalities diagnosis, Craniofacial Abnormalities pathology, DNA Mutational Analysis, De Lange Syndrome, Diagnosis, Differential, Dwarfism diagnosis, Dwarfism pathology, Ear pathology, Facies, Female, Gene Expression, Heart Defects, Congenital diagnosis, Heart Defects, Congenital pathology, Humans, Infant, Intellectual Disability diagnosis, Intellectual Disability pathology, Lung Diseases diagnosis, Lung Diseases pathology, Male, Neck pathology, Obesity diagnosis, Obesity pathology, Phenotype, Syndrome, Thorax pathology, Young Adult, Craniofacial Abnormalities genetics, Dwarfism genetics, Ear abnormalities, Heart Defects, Congenital genetics, Intellectual Disability genetics, Lung Diseases genetics, Mutation, Missense, Neck abnormalities, Obesity genetics, Thorax abnormalities, Transcriptional Elongation Factors genetics
Abstract

CHOPS syndrome is a multisystem disorder caused by missense mutations in AFF4. Previously, we reported three individuals whose primary phenotype included cognitive impairment and coarse facies, heart defects, obesity, pulmonary involvement, and short stature. This syndrome overlaps phenotypically with Cornelia de Lange syndrome, but presents distinct differences including facial features, pulmonary involvement, and obesity. Here, we provide clinical descriptions of an additional eight individuals with CHOPS syndrome, as well as neurocognitive analysis of three individuals. All 11 individuals presented with features reminiscent of Cornelia de Lange syndrome such as synophrys, upturned nasal tip, arched eyebrows, and long eyelashes. All 11 individuals had short stature and obesity. Congenital heart disease and pulmonary involvement were common, and those were seen in about 70% of individuals with CHOPS syndrome. Skeletal abnormalities are also common, and those include abnormal shape of vertebral bodies, hypoplastic long bones, and low bone mineral density. Our observation indicates that obesity, pulmonary involvement, skeletal findings are the most notable features distinguishing CHOPS syndrome from Cornelia de Lange syndrome. In fact, two out of eight of our newly identified patients were found to have AFF4 mutations by targeted AFF4 mutational analysis rather than exome sequencing. These phenotypic findings establish CHOPS syndrome as a distinct, clinically recognizable disorder. Additionally, we report three novel missense mutations causative for CHOPS syndrome that lie within the highly conserved, 14 amino acid sequence of the ALF homology domain of the AFF4 gene, emphasizing the critical functional role of this region in human development., (© 2019 Wiley Periodicals, Inc.)

Published
2019
Full Text
View/download PDF

4. Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.

Author

Kline AD, Krantz ID, Deardorff MA, Shirahige K, Dorsett D, Gerton JL, Wu M, Mehta D, Mills JA, Carrico CS, Noon S, Herrera PS, Horsfield JA, Bettale C, Morgan J, Huisman SA, Moss J, McCleery J, Grados M, Hansen BD, Srivastava S, Taylor-Snell E, Kerr LM, Katz O, Calof AL, Musio A, Egense A, and Haaland RE

Subjects
De Lange Syndrome diagnosis, Humans, Phenotype, Cohesins, Cell Cycle Proteins genetics, Chromosomal Proteins, Non-Histone genetics, De Lange Syndrome genetics, De Lange Syndrome physiopathology
Abstract

Cornelia de Lange Syndrome (CdLS) is due to mutations in the genes for the structural and regulatory proteins that make up the cohesin complex, and is considered a cohesinopathy disorder or, more recently, a transcriptomopathy. New phenotypes have been recognized in this expanding field. There are multiple clinical issues facing individuals with all forms of CdLS, particularly in the neurodevelopmental system, but also gastrointestinal, cardiac, and musculoskeletal. Aspects of developmental and cell biology have found common endpoints in the biology of the cohesin complex, with improved understanding of the mechanisms, easier diagnostic tests, and the possibility of potential therapeutics, all major clinical implications for the individual with CdLS. The following abstracts are the presentations from the 7th Cornelia de Lange Syndrome Scientific and Educational Symposium, June 22-23, 2016, in Orlando, FL, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting. In addition to the scientific and clinical discussions, there were talks related to practical aspects of behavior including autism, transitions, communication, access to medical care, and databases. At the end of the symposium, a panel was held, which included several parents, affected individuals and genetic counselors, and discussed the greatest challenges in life and how this information can assist in guiding future research. The Research Committee of the CdLS Foundation organizes this meeting, reviews, and accepts abstracts, and subsequently disseminates the information to the families through members of the Clinical Advisory Board and publications. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD., (© 2017 Wiley Periodicals, Inc.)

Published
2017
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results