Results 11 to 20 of about 1,057 (102)

A challenging diagnosis for thiamine transporter deficiency anemia (Rogers syndrome) in two young siblings: A rare case report. [PDF]

Clin Case Rep, 2023
Abstract We present these two cases to emphasize the necessity of critical thinking and high suspicion of the disease (Rogers syndrome) to avoid potentially fatal situations due to its rarity and the importance of early treatment.
Deeb Y, Martini N, Ahmad YA, Alkosti M, Hamdan O.   +4 more
europepmc   +2 more sources

Mining Thermophile Genomes for New PETases with Exceptional Thermostabilities Using Sequence Similarity Networks. [PDF]

Chembiochem
Targeted genome mining identified thermostable enzymes (PETases) that hydrolyze the commonly used plastic polymer polyethylene terephthalate (PET). Thermostable enzymes are identified from thermophilic microbial sources. Experimental results reveal enzymatic activity on authentic PET films, highlighting potential for industrial application.
Hu Z, Klupt K, Zechel DL, Jia Z, Howe G.
europepmc   +2 more sources

Rogers Syndrome, an Uncommon Cause of Megaloblastic Anemia: A Case Series [PDF]

Advanced Biomedical Research
The present case series describes two male children of 5 months and 11 months old, having diabetes mellitus and megaloblastic anemia, but with no syndromic symptoms or organ involvement.
Reshma Roshan, Masarat Mehboob, Roman Latif, Javid R. Bhat, Santosh G. Rathod   +4 more
doaj   +2 more sources

Diagnosis of a patient with severe sensorineural hearing loss as the initial symptom caused by novel compound heterozygous variant in SLC19A2 gene [PDF]

Brazilian Journal of Otorhinolaryngology
Objective: Thiamine-Responsive Megaloblastic Anemia (TRMA) syndrome, caused by biallelic variants in the SLC19A2 gene, typically presents with a triad of megaloblastic anemia, diabetes mellitus, and sensorineural hearing loss.
Yanan Shi, Junyang Li, Xiaoqin Chen, Niu Li, Sijie Yang, Youjin Li, Min Zhou   +6 more
doaj   +2 more sources

Thiamine-responsive megaloblastic anemia syndrome with novel compound heterozygous SLC19A2 mutations and thrombotic events: a case report [PDF]

Journal of Medical Case Reports
Background Thiamine-responsive megaloblastic anemia syndrome represents a rare autosomal recessive condition originating from mutations in the SLC19A2 gene.
Francisco Xavier Jiménez, Carlos Rojas, Heidi A. Fernandez, Rossana Ruiz-Urbáez, Carlos Reyes-Silva, Jhonatan Guamán, Mauricio Carrión, Fernando Naranjo-Saltos   +7 more
doaj   +2 more sources

Thiamine responsive megaloblastic Anemia and deafness: A rare case of Roger's syndrome with successful hearing rehabilitation by cochlear implantation [PDF]

Journal of Otology
Thiamine responsive megaloblastic anemia (TRMA), also known as Roger's syndrome, is an exceptionally rare autosomal recessive disorder stemming from mutations in the SLC19A2 gene responsible for encoding a thiamine carrier protein.This syndrome manifests
Hetal Marfatia, Anoushka Sahai, Kartik Narkhede, Monankita Sharma   +3 more
doaj   +2 more sources

Neonatal diabetes mellitus around the world: Update 2024. [PDF]

J Diabetes Investig
Between 2018 and early 2024, six brand new NDM‐genes have been discovered and 3 genes known to cause different diseases were identified as NDM‐genes. Currently NDM genes' list exceeds forty.This genetic heterogeneity translates into many different mechanism(s) of disease that are investigated with state‐of‐the‐art methodologies, such as induced ...
Barbetti F, Deeb A, Suzuki S.
europepmc   +2 more sources

Efficient genetic manipulation of Shewanella through targeting defense islands [PDF]

Applied and Environmental Microbiology
The Shewanella genus is widely recognized for its remarkable respiratory adaptability in anaerobic environments, exhibiting potential for bioremediation and microbial fuel cell applications. However, the genetic manipulation of certain Shewanella strains
Yilong Ruan, Huan Tang, Tongxuan Cai, Xiaofei Du, Tianlang Liu, Xiaoxue Wang, Pengxia Wang   +6 more
doaj   +2 more sources

Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan. [PDF]

Pediatr Diabetes
Neonatal diabetes (ND) is a rare subtype of diabetes occurring in the first 6 months of life. High incidence has been reported among populations with high rates of consanguineous marriage. However, there is paucity of reported data from sub‐Saharan African countries.
Hassan SS, Musa SA, De Franco E, Donis Frew R, Babiker OO, Mohamadsalih GF, Ibrahim AA, Abu Samra S, Abdullah MA.   +8 more
europepmc   +2 more sources

Rational Design and Development of Polymeric Nanogels as Protein Carriers

Macromolecular Bioscience, Volume 23, Issue 12, December 2023., 2023
Polymer nanogels are promising carriers for therapeutic proteins. To guide their rational design toward specific pharmaceutical applications, key parameters are reviewed that determine protein‐nanogel interactions and discuss how these need to be considered during the loading procedure to maximize protein contents and minimize unwanted release ...
Clara López‐Iglesias, Daniel Klinger
wiley   +1 more source