Results 1 to 10 of about 6,318 (112)

Infection-Triggered Disease Flare With Extraintestinal Manifestations in Trichohepatoenteric Syndrome: A Case Report [PDF]

Case Reports in Medicine
Trichohepatoenteric syndrome (THES) is a rare, autosomal recessive disorder characterized by early-onset diarrhea, woolly hair, and facial dysmorphism and variable multisystem involvement. Herein, we report a 17-year-old male with a genetically confirmed
Hatem M. Taha, Mohammed AbuBaha, Hossam Salameh, Wael Hashem, Amin A. A. Abualhommos, Omar Marouf, Hasan Khalili   +6 more
doaj   +2 more sources

Novel SKIC3 variants in tricho-hepato-enteric syndrome with hemochromatosis [PDF]

Human Genome Variation
Tricho-hepato-enteric syndrome (THES), a rare autosomal recessive disorder caused by variants in the SKIC3 or SKIC2 gene, is characterized by intractable diarrhea, woolly hair, growth restriction and liver disease.
Kayo Ochiai, Yoshinori Aoki, Naoshi Yamada, Murasaki Aman, Atsushi Yamashita, Masatoshi Yamaguchi, Daisuke Nakato, Toshiki Takenouchi, Kenjiro Kosaki, Yuki Kodama, Hiroshi Moritake   +10 more
doaj   +2 more sources

Arctic Amplification of marine heatwaves under global warming [PDF]

Nature Communications
Marine heatwaves (MHWs) and total heat exposures (THEs), extreme warming events occurring across the global oceans, seriously threaten marine ecosystems and coastal communities as the climate warms.
Yan He, Qi Shu, Qiang Wang, Zhenya Song, Min Zhang, Shizhu Wang, Lujun Zhang, Haibo Bi, Rongrong Pan, Fangli Qiao   +9 more
doaj   +2 more sources

Trichohepatoenteric syndrome type 1: expanding the clinical spectrum of THES type 1 due to a homozygous variant in the SKIC3 gene [PDF]

BMC Pediatrics
Trichohepatoenteric syndrome (THES), also known as phenotypic diarrhea or syndromic diarrhea, is a rare autosomal recessive genetic disorder caused by mutations in SKIC2 (THES-type 2) or SKIC3 (THES-type 1) and is characterized by early onset diarrhea ...
Abdullah Alrammal, Rashed Aljundi, Sedra Abu Ghedda, Buthaina Mustafa AlMurbati   +3 more
doaj   +2 more sources

A Wearable Monitor to Detect Tripping During Daily Life in Children with Intoeing Gait [PDF]

Sensors
Children with intoeing gait are at increased risk of tripping and consequent injury, reduced mobility, and psychological issues. Quantification of tripping is needed outside the gait lab during daily life for improved clinical assessment and treatment ...
Warren Smith, Zahra Najafi, Anita Bagley
doaj   +2 more sources

Proof of concept of noninvasive detection of norepinephrine induced stroke volume changes using perfusion index in cardiac surgery [PDF]

Scientific Reports
Intraoperative arterial hypotension (IAH) increases the risk of complications. Norepinephrine is often used to treat IAH, but its effects on stroke volume (SV) are highly variable.
Antoine Premachandra, Baptiste Monnier, Iolanda Ion, Jacques Thès, Sylvain Diop   +4 more
doaj   +2 more sources

Case Report: Tricho-hepato-enteric syndrome in an infant presented with colorectal ulceration and severe respiratory superinfection [PDF]

Frontiers in Immunology
IntroductionTricho-hepato-enteric syndrome (THES) is a rare genetic disorder characterized by early-onset intractable diarrhea, intrauterine growth retardation, hair abnormalities, and liver disease during early infancy.
Yuta Narishige, Tomohiro Nakano, Yusuke Hoshi, Kenji Sonota, Hiroki Sakurai, Fumihiko Kakuta, Taku Koizumi, Yoji Sasahara, Daiki Abukawa   +8 more
doaj   +2 more sources

Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia

The Saudi Journal of Gastroenterology, 2022
Background: Trichohepatoenteric syndrome (THES) is a very rare disorder that is characterized by intractable congenital diarrhea, woolly hair, intrauterine growth restriction, facial dysmorphism, and short stature. Our knowledge of THES is limited due to
Badr M Alsaleem, Mohammed Hasosah, Amna Basheer M. Ahmed, Maher M Al Hatlani, Aziz Helal Alanazi, Abdulrahman Al-Hussaini, Ali T Asery, Khalid A Alghamdi, Muhanad M AlRuwaithi, Musa Ali M. Khormi, Ahmed Al Sarkhy, Ali S Alshamrani   +11 more
doaj   +1 more source

Case Report: A Novel Homozygous Frameshift Mutation of the SKIV2L Gene in a Trichohepatoenteric Syndrome Patient Presenting With Short Stature, Premature Ovarian Failure, and Osteoporosis

Frontiers in Genetics, 2022
Background: Trichohepatoenteric syndrome (THES) is a rare Mendelian autosomal recessive genetic disease characterized by intractable diarrhea, woolly hair, facial abnormality, immune dysfunction, and intrauterine growth restriction.
Minyi Yang, Yu Jiang, Xinyu Shao, Xinyu Shao   +3 more
doaj   +1 more source

Multimodal take-home exams in online teaching and beyond: constructive and professional alignment in teacher education

Zeitschrift für Hochschulentwicklung, 2022
The authors propose an alternative to in-class exams (ICEs) based on the higher-order levels of Bloom’s taxonomy as well as both constructive and professional alignment.
Silke Braselmann, Jolene Mathieson, Oliver Moisich   +2 more
doaj   +1 more source