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Overlap syndrome
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Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresponding molecular pathway.
13p
vibransone
28-03-2024
4
2
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Irritable bowel syndrome (IBS) often co-occurs with psychiatric and gastrointestinal disorders. A recent genome-wide association study (GWAS) identified several genetic risk variants for IBS. However, most of the heritability remains unidentified, and the genetic overlap with psychiatric and somatic disorders is not quantified beyond genome-wide genetic correlations.
18p
vicwell
29-02-2024
4
1
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Beyond the typical respiratory symptoms associated with novel coronavirus, increasing evidence has been reported of the neurological manifestations affecting both the central and peripheral nervous systems.
4p
vigojek
02-02-2024
3
1
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Autoimmune hepatitis–primary sclerosing cholangitis overlap syndrome is a form of autoimmune hepatitis with cholestatic features and is characterized by negative anti-mitochondrial antibody and cholangiographic changes on magnetic resonance cholangiopancreatography or endoscopic retrograde cholangiopancreatography.
5p
vilazada
31-01-2024
4
2
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Hepatocellular carcinoma (HCC) is a primary tumor of the liver. The majority of HCCs are associated most frequently with chronic B or C viral hepatitis, alcohol intake or aflatoxin exposure. Cirrhosis is a strong risk factor associated with HCC.
8p
vitiki
30-01-2024
9
2
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Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) comprise several rare hematologic malignancies with shared concomitant dysplastic and proliferative clinicopathologic features of bone marrow failure and propensity of acute leukemic transformation, and have significant impact on patient quality of life.
15p
vialfrednobel
23-12-2023
6
4
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Primary biliary cholangitis (PBC) is a chronic, autoimmune cholestatic disease, characterized by inflammation of the small and mediumsized bile ducts, which can lead to cirrhosis. Two to nineteen percent of patients with PBC have been reported to have features that overlap with autoimmune hepatitis (AIH).
3p
viintuit
26-09-2023
4
0
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There is ample evidence indicating that immunosuppressive therapy or immune dysregulation in systemic lupus erythematosus increases the risk for tuberculosis. Interestingly, a few case reports suggest that tuberculosis could also be a risk factor for systemic lupus erythematosus and other autoimmune diseases.
6p
vigamora
23-05-2023
5
2
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Overlap syndrome of primary biliary cholangitis and primary sclerosing cholangitis: Two case reports
Overlap syndrome between primary biliary cholangitis and primary sclerosing cholangitis is an extremely rare condition that has been reported in only few published cases so far in the literature. We highlight here the rarity of this condition and indicate the importance of its recognition.
5p
vidoctorstrange
06-05-2023
5
2
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Androgen insensitivity syndrome (AIS) is a rare X-linked recessive androgen receptor (AR) disorder. However, the overlap in clinical manifestations between AIS and other disorders of sex development can cause clinical diagnostic difficulties. Applying the whole coding region sequencing method is an optimal method for the diagnosis of AIS.
8p
vicaptainmarvel
21-04-2023
3
2
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People with neurodegenerative disorders show diverse clinical syndromes, genetic heterogeneity, and distinct brain pathological changes, but studies report overlap between these features. DNA methylation (DNAm) provides a way to explore this overlap and heterogeneity as it is determined by the combined effects of genetic variation and the environment.
30p
viarchimedes
26-01-2022
7
0
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Delirium was characterized with a series of symptoms of a sudden onset of disturbances in attention, a loss in memory loss and defects in other cognitive abilities that were also appeared in the syndrome of anxiety. Even though there are overlapped clinical symptoms existed in anxiety and delirium, the relationship between anxiety and delirium was still unclear.
8p
vidietmarhopp
29-12-2021
13
0
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Granulomatosis with polyangiitis (GPA) is a systemic ANCA-associated vasculitis characterized by necrotizing granulomatous inflammation and a predilection for the upper and lower respiratory tract.
6p
vimontana2711
05-04-2021
5
2
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Coexistence of aspergilloma and allergic bronchopulmonary aspergillosis (ABPA) has rarely been reported. Although the treatment for ABPA includes administration of corticosteroids and antifungal agents, little is known about the treatment for coexisting aspergilloma and ABPA.
6p
vimontana2711
05-04-2021
11
2
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The diagnostic criteria for asthma-chronic obstructive pulmonary disease overlap have not been unified. Different studies have used different criteria, and this has led to diagnostic inconsistencies.
7p
vimaine2711
26-03-2021
7
1
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Mitochondria contain their own DNA (MtDNA) that is very sensitive to oxidative stress and as a consequence could be damaged in quantity. Oxidative stress is largely recognized to play a key role in the pathogenesis of asthma and COPD and might have a role in the new intermediate phenotype ACOS (asthma-COPD overlap syndrome).
9p
vimaine2711
26-03-2021
9
2
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Asthma–COPD overlap syndrome (ACOS) prevalence varies depending on the studied population and definition criteria. The prevalence and clinical characteristics of ACOS in an at-risk COPD primary care population from Latin America was assessed.
11p
vimaine2711
26-03-2021
13
1
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Autoimmune hepatitis/primary biliary cirrhosis overlap syndrome, lymphangioleiomyomatosis/tuberous sclerosis complex (LAM-TSC), and sarcoidosis are three rare diseases. Here we present, to the best of our knowledge, the first description of a patient with the coexistence of these three diseases.
4p
vimaine2711
26-03-2021
10
2
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The overlap syndrome of primary biliary cholangitis (formerly called primary biliary cirrhosis) and primary sclerosing cholangitis is an extremely rare condition that has never been described in association with other immune-mediated diseases, including psoriatic arthritis.
5p
vitennessee2711
02-02-2021
10
2
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Joubert syndrome and related disorders (JSRD) and Jeune syndrome are multisystem ciliopathy disorders with overlapping phenotypes. There are a growing number of genetic causes for these rare syndromes, including the recently described genes ARL3 and CEP120.
11p
viwyoming2711
16-12-2020
10
1
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