Results 51 to 60 of about 15,020 (275)

‘Comparison and correlation of the maxillary sinus dimensions in various craniofacial patterns: A CBCT Study’ [version 2; peer review: 2 approved]

F1000Research, 2022
Background: To compare and correlate the maxillary sinus dimensions and basal bone height among various facial patterns using CBCT for advanced diagnosis and treatment planning in Orthodontics. Methods: 66 CBCT images within age group of 18-30 years were
M N Kuttappa, Harshit Atul Kumar, U S Krishna Nayak   +2 more
doaj   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

No evidence of amplified Plasmodium falciparum plasmepsin II gene copy number in an area with artemisinin-resistant malaria along the China–Myanmar border

Malaria Journal, 2020
Background The emergence and spread of artemisinin resistance in Plasmodium falciparum poses a threat to malaria eradication, including China’s plan to eliminate malaria by 2020.
Fang Huang, Biraj Shrestha, Hui Liu, Lin-Hua Tang, Shui-Sen Zhou, Xiao-Nong Zhou, Shannon Takala-Harrison, Pascal Ringwald, Myaing M. Nyunt, Christopher V. Plowe   +9 more
doaj   +1 more source

Ambient air pollution and cardiovascular disease in Ugandan adolescents with perinatally acquired HIV: a cross-sectional study

The Lancet Global Health, 2021
Background: Air pollution is known to induce systemic inflammation and contribute to cardiovascular disease. The effects of ambient air pollution on adolescents living with perinatally acquired HIV (PHIV) in Africa has been understudied.
Sophia Toe, Matthew Nagy, Zainab Albar, PhD, Rashida Nazzinda, MMED, Abdus Sattar, PhD, Victor Musiime, MsC, Samuel Etajak, Felix Walyawula, Grace A McComsey, MD, Lynn Atuyambe, PhD, Sahera Dirajlal-Fargo, DO   +10 more
doaj   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Global urban temporal trends in fine particulate matter (PM2·5) and attributable health burdens: estimates from global datasets

, 2022
Background: With much of the world\u27s population residing in urban areas, an understanding of air pollution exposures at the city level can inform mitigation approaches.
Brauer, Michael, Hammer, Melanie S., Southerland, Veronica A., Mohegh, Arash, van Donkelaar, Aaron, Martin, Randall V., Apte, Joshua S., Anenberg, Susan C.   +7 more
core   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Inactivation of the Lipid-Containing Bacteriophage PM2 by Butylated Hydroxytoluene [PDF]

Antimicrobial Agents and Chemotherapy, 1975
Several factors have been investigated which are of significance in the inactivation of PM2, a lipid-containing bacterial virus, by butylated hydroxytoluene (BHT). Studies of the time dependence of inactivation during exposure to BHT showed that virus killing occurs rapidly, with the majority of the effect taking place in the first 5 min ...
J, Cupp, P, Wanda, A, Keith, W, Snipes
openaire   +2 more sources

DNA of Bacteriophage PM2: A Closed Circular Double-Stranded Molecule [PDF]

, 1969
The DNA molecules isolated from mature bacteriophage PM2 are closed double-stranded rings of a molecular weight of six million. Direct evidence for the circularity and supercoiling of PM2 DNA was obtained by electron microscopy. Other properties, such as
Espejo, Romilio T., Sinsheimer, Robert L., Canelo, Eliana S.   +2 more
core