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Novel pathogenic ATM mutation with ataxia-telangiectasia in a Chinese family.
Front Genet
November 2024
Department of Neonatology and NICU, Wenling Maternal and Child Healthcare Hospital, Wenling, Zhejiang, China.
Ataxia-Telangiectasia (A-T) is a rare, autosomal recessive disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, and increased cancer risk. Mutations in the ATM gene, which is essential for DNA damage repair, underlie this condition. This study reports a novel homozygous frameshift mutation (ATM_ex20 c.
View Article and Find Full Text PDF<b>Background and Objective:</b> Autism Spectrum Disorder (ASD) is a range of neurodevelopmental disabilities that lack a clear etiology. To date, studies investigating the role of immune reactivity to gluten in ASD have been inconsistent. This study aimed to compare levels of gluten reactivity markers in 319 ASD patients to 172 of their unaffected siblings and 322 of unrelated healthy controls (UHC).
View Article and Find Full Text PDFThe Effectiveness of Heat-Killed K15 in Preventing Respiratory Tract Infections in Preterm Infants: A Pilot Double-Blind, Randomized, Placebo-Controlled Study.
Nutrients
October 2024
Center for Preventive Medical Sciences, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba-shi 260-8670, Chiba, Japan.
Background: Preterm infants discharged from the neonatal intensive care unit (NICU) have a risk of severe viral respiratory tract infections (RTIs). Researchers have recently reported the potential use of postbiotics to decrease RTIs in young children. However, the safety and efficacy of postbiotics for preventing RTIs in preterm infants is not yet established.
View Article and Find Full Text PDFReconstitution of norovirus-specific T cell responses following hematopoietic stem cell transplantation in patients with inborn errors of immunity and chronic norovirus infection.
J Infect Dis
August 2024
Center for Cancer and Immunology Research, Children's National Hospital, Washington, DC, USA.
Background: Chronic norovirus infection (CNI) causes significant morbidity in immunocompromised patients. No effective prevention or treatment currently exists.
Methods: Two patients with inborn errors of immunity, X- linked severe combined immunodeficiency (X-SCID) and DOCK8 deficiency, were followed longitudinally for clinical course, immune reconstitution, norovirus-specific T cell (NST) response, B cell reconstitution, and norovirus-specific antibody production.
Demystifying the Mystery of Genes: A Case Report on Constitutional Mismatch Repair Deficiency.
Indian J Radiol Imaging
July 2024
Department of Radiation Oncology, Tata Memorial Hospital, Mumbai, Maharashtra, India.
Constitutional mismatch repair deficiency (CMMRD) is a rare childhood cancer predisposition syndrome that results from biallelic germline mutations in one of the four MMR genes, MLH1, MSH2, MSH6, or PMS2. This syndrome is characterized by a broad spectrum of early-onset malignancies, including hematologic malignancies, colorectal malignancies, brain tumors, and other malignancies. It is common to have more than one malignancy in an individual diagnosed with CMMRD.
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