A novel gain ‐of‐function STAT3 variant in infantile‐onset diabetes associated with multiorgan autoimmunity
ConclusionIn the current study, we describe clinical manifestations and identify a novelSTAT3 GOF variant (c.1069G>A) in a Chinese patient. This activating variant impairs insulin expression by increasing transcriptional inhibition of its downstream transcription factorISL1, which could be involved in the pathogenesis of early-onset diabetes. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 26, 2024 Category: Genetics & Stem Cells Authors: Qiaoli Zhou,
Dandan Chen,
Jing Yu,
Bixia Zheng,
Wei Zhou,
Zhanjun Jia,
Aihua Zhang,
Wei Gu Tags: ORIGINAL ARTICLE Source Type: research
A case report of pancreatic exocrine insufficiency in a patient with Parkinson's disease: A coincidence or is there more to it than meets the eye?
We present a case of a 60-year-old male with Parkinson's disease and persistent abdominal pain who was found to have low faecal elastase levels indicative of severe PEI. His past medical history included none of the known risk factors for PEI. After examining the literature, we report a similar pathophysiological process underlying the development of pancreatitis and Parkinson's disease which is dysfunction of the Unfolded Protein Response. We suggest further research to assess the prevalence of PEI in the population of patients with Parkinson's disease.PMID:38396339 | DOI:10.1177/14782715241234078 (Source: Journal of the ...
Source: Journal of the Royal College of Physicians of Edinburgh - February 24, 2024 Category: General Medicine Authors: David Edwards Babu Krishnan Mustafa Jalal Source Type: research
Serological screening for celiac disease, by endomysial antibodies, in patients with rheumatoid arthritis
Ann Biol Clin (Paris). 2023 Dec 1;81(6):569-575. doi: 10.1684/abc.2023.1851.ABSTRACTCeliac disease (CD) and rheumathoid arthritis (RA) are both multi-factorial chronic inflammatory auto-immune diseases. In this retrospective study, we determined the frequency of CD in patients with RA using IgA anti-endomysial antibodies (EmA) and tried to explain this association. Indirect immunofluorescence on human umbilical cord was used to detect EmA in 215 patients with seropositive RA collected over a 4-year-period. Two thousand and five hundred healthy blood donors (HBD) served as control group. Among the 215 patients with RA, 12 (...
Source: Annales de Biologie Clinique - February 23, 2024 Category: Biochemistry Authors: Mariam Ghozzi Fatma Mechi Alma Ben Salem Ikram El Ahmer Donia Rachel Mbarki Sarra Melayah Amani Mankai Ibtissem Ghedira Source Type: research
Serological screening for celiac disease, by endomysial antibodies, in patients with rheumatoid arthritis
Ann Biol Clin (Paris). 2024 Feb 24;81(6):569-575. doi: 10.1684/abc.2023.1851.ABSTRACTCeliac disease (CD) and rheumathoid arthritis (RA) are both multi-factorial chronic inflammatory auto-immune diseases. In this retrospective study, we determined the frequency of CD in patients with RA using IgA anti-endomysial antibodies (EmA) and tried to explain this association. Indirect immunofluorescence on human umbilical cord was used to detect EmA in 215 patients with seropositive RA collected over a 4-year-period. Two thousand and five hundred healthy blood donors (HBD) served as control group. Among the 215 patients with RA, 12 ...
Source: Annales de Biologie Clinique - February 23, 2024 Category: Biochemistry Authors: Mariam Ghozzi Fatma Mechi Alma Ben Salem Ikram El Ahmer Donia Rachel Mbarki Sarra Melayah Amani Mankai Ibtissem Ghedira Source Type: research
Serological screening for celiac disease, by endomysial antibodies, in patients with rheumatoid arthritis
Ann Biol Clin (Paris). 2024 Feb 24;81(6):569-575. doi: 10.1684/abc.2023.1851.ABSTRACTCeliac disease (CD) and rheumathoid arthritis (RA) are both multi-factorial chronic inflammatory auto-immune diseases. In this retrospective study, we determined the frequency of CD in patients with RA using IgA anti-endomysial antibodies (EmA) and tried to explain this association. Indirect immunofluorescence on human umbilical cord was used to detect EmA in 215 patients with seropositive RA collected over a 4-year-period. Two thousand and five hundred healthy blood donors (HBD) served as control group. Among the 215 patients with RA, 12 ...
Source: Annales de Biologie Clinique - February 23, 2024 Category: Biochemistry Authors: Mariam Ghozzi Fatma Mechi Alma Ben Salem Ikram El Ahmer Donia Rachel Mbarki Sarra Melayah Amani Mankai Ibtissem Ghedira Source Type: research
Serological screening for celiac disease, by endomysial antibodies, in patients with rheumatoid arthritis
Ann Biol Clin (Paris). 2024 Feb 24;81(6):569-575. doi: 10.1684/abc.2023.1851.ABSTRACTCeliac disease (CD) and rheumathoid arthritis (RA) are both multi-factorial chronic inflammatory auto-immune diseases. In this retrospective study, we determined the frequency of CD in patients with RA using IgA anti-endomysial antibodies (EmA) and tried to explain this association. Indirect immunofluorescence on human umbilical cord was used to detect EmA in 215 patients with seropositive RA collected over a 4-year-period. Two thousand and five hundred healthy blood donors (HBD) served as control group. Among the 215 patients with RA, 12 ...
Source: Annales de Biologie Clinique - February 23, 2024 Category: Biochemistry Authors: Mariam Ghozzi Fatma Mechi Alma Ben Salem Ikram El Ahmer Donia Rachel Mbarki Sarra Melayah Amani Mankai Ibtissem Ghedira Source Type: research
Serological screening for celiac disease, by endomysial antibodies, in patients with rheumatoid arthritis
Ann Biol Clin (Paris). 2024 Feb 24;81(6):569-575. doi: 10.1684/abc.2023.1851.ABSTRACTCeliac disease (CD) and rheumathoid arthritis (RA) are both multi-factorial chronic inflammatory auto-immune diseases. In this retrospective study, we determined the frequency of CD in patients with RA using IgA anti-endomysial antibodies (EmA) and tried to explain this association. Indirect immunofluorescence on human umbilical cord was used to detect EmA in 215 patients with seropositive RA collected over a 4-year-period. Two thousand and five hundred healthy blood donors (HBD) served as control group. Among the 215 patients with RA, 12 ...
Source: Annales de Biologie Clinique - February 23, 2024 Category: Biochemistry Authors: Mariam Ghozzi Fatma Mechi Alma Ben Salem Ikram El Ahmer Donia Rachel Mbarki Sarra Melayah Amani Mankai Ibtissem Ghedira Source Type: research
Serological screening for celiac disease, by endomysial antibodies, in patients with rheumatoid arthritis
Ann Biol Clin (Paris). 2024 Feb 24;81(6):569-575. doi: 10.1684/abc.2023.1851.ABSTRACTCeliac disease (CD) and rheumathoid arthritis (RA) are both multi-factorial chronic inflammatory auto-immune diseases. In this retrospective study, we determined the frequency of CD in patients with RA using IgA anti-endomysial antibodies (EmA) and tried to explain this association. Indirect immunofluorescence on human umbilical cord was used to detect EmA in 215 patients with seropositive RA collected over a 4-year-period. Two thousand and five hundred healthy blood donors (HBD) served as control group. Among the 215 patients with RA, 12 ...
Source: Annales de Biologie Clinique - February 23, 2024 Category: Biochemistry Authors: Mariam Ghozzi Fatma Mechi Alma Ben Salem Ikram El Ahmer Donia Rachel Mbarki Sarra Melayah Amani Mankai Ibtissem Ghedira Source Type: research
Serological screening for celiac disease, by endomysial antibodies, in patients with rheumatoid arthritis
Ann Biol Clin (Paris). 2024 Feb 24;81(6):569-575. doi: 10.1684/abc.2023.1851.ABSTRACTCeliac disease (CD) and rheumathoid arthritis (RA) are both multi-factorial chronic inflammatory auto-immune diseases. In this retrospective study, we determined the frequency of CD in patients with RA using IgA anti-endomysial antibodies (EmA) and tried to explain this association. Indirect immunofluorescence on human umbilical cord was used to detect EmA in 215 patients with seropositive RA collected over a 4-year-period. Two thousand and five hundred healthy blood donors (HBD) served as control group. Among the 215 patients with RA, 12 ...
Source: Annales de Biologie Clinique - February 23, 2024 Category: Biochemistry Authors: Mariam Ghozzi Fatma Mechi Alma Ben Salem Ikram El Ahmer Donia Rachel Mbarki Sarra Melayah Amani Mankai Ibtissem Ghedira Source Type: research
Serological screening for celiac disease, by endomysial antibodies, in patients with rheumatoid arthritis
Ann Biol Clin (Paris). 2024 Feb 24;81(6):569-575. doi: 10.1684/abc.2023.1851.ABSTRACTCeliac disease (CD) and rheumathoid arthritis (RA) are both multi-factorial chronic inflammatory auto-immune diseases. In this retrospective study, we determined the frequency of CD in patients with RA using IgA anti-endomysial antibodies (EmA) and tried to explain this association. Indirect immunofluorescence on human umbilical cord was used to detect EmA in 215 patients with seropositive RA collected over a 4-year-period. Two thousand and five hundred healthy blood donors (HBD) served as control group. Among the 215 patients with RA, 12 ...
Source: Annales de Biologie Clinique - February 23, 2024 Category: Biochemistry Authors: Mariam Ghozzi Fatma Mechi Alma Ben Salem Ikram El Ahmer Donia Rachel Mbarki Sarra Melayah Amani Mankai Ibtissem Ghedira Source Type: research
Serological screening for celiac disease, by endomysial antibodies, in patients with rheumatoid arthritis
Ann Biol Clin (Paris). 2024 Feb 24;81(6):569-575. doi: 10.1684/abc.2023.1851.ABSTRACTCeliac disease (CD) and rheumathoid arthritis (RA) are both multi-factorial chronic inflammatory auto-immune diseases. In this retrospective study, we determined the frequency of CD in patients with RA using IgA anti-endomysial antibodies (EmA) and tried to explain this association. Indirect immunofluorescence on human umbilical cord was used to detect EmA in 215 patients with seropositive RA collected over a 4-year-period. Two thousand and five hundred healthy blood donors (HBD) served as control group. Among the 215 patients with RA, 12 ...
Source: Annales de Biologie Clinique - February 23, 2024 Category: Biochemistry Authors: Mariam Ghozzi Fatma Mechi Alma Ben Salem Ikram El Ahmer Donia Rachel Mbarki Sarra Melayah Amani Mankai Ibtissem Ghedira Source Type: research
Serological screening for celiac disease, by endomysial antibodies, in patients with rheumatoid arthritis
Ann Biol Clin (Paris). 2024 Feb 24;81(6):569-575. doi: 10.1684/abc.2023.1851.ABSTRACTCeliac disease (CD) and rheumathoid arthritis (RA) are both multi-factorial chronic inflammatory auto-immune diseases. In this retrospective study, we determined the frequency of CD in patients with RA using IgA anti-endomysial antibodies (EmA) and tried to explain this association. Indirect immunofluorescence on human umbilical cord was used to detect EmA in 215 patients with seropositive RA collected over a 4-year-period. Two thousand and five hundred healthy blood donors (HBD) served as control group. Among the 215 patients with RA, 12 ...
Source: Annales de Biologie Clinique - February 23, 2024 Category: Biochemistry Authors: Mariam Ghozzi Fatma Mechi Alma Ben Salem Ikram El Ahmer Donia Rachel Mbarki Sarra Melayah Amani Mankai Ibtissem Ghedira Source Type: research
Serological screening for celiac disease, by endomysial antibodies, in patients with rheumatoid arthritis
Ann Biol Clin (Paris). 2024 Feb 24;81(6):569-575. doi: 10.1684/abc.2023.1851.ABSTRACTCeliac disease (CD) and rheumathoid arthritis (RA) are both multi-factorial chronic inflammatory auto-immune diseases. In this retrospective study, we determined the frequency of CD in patients with RA using IgA anti-endomysial antibodies (EmA) and tried to explain this association. Indirect immunofluorescence on human umbilical cord was used to detect EmA in 215 patients with seropositive RA collected over a 4-year-period. Two thousand and five hundred healthy blood donors (HBD) served as control group. Among the 215 patients with RA, 12 ...
Source: Annales de Biologie Clinique - February 23, 2024 Category: Biochemistry Authors: Mariam Ghozzi Fatma Mechi Alma Ben Salem Ikram El Ahmer Donia Rachel Mbarki Sarra Melayah Amani Mankai Ibtissem Ghedira Source Type: research
