• In pulmonology, asthma-COPD Overlap Syndrome (ACOS) is a condition in which clinical features and symptoms of both asthma and COPD are present in a person and overlap significantly. (wikipedia.org)
  • Do you have asthma, COPD, or asthma COPD overlap syndrome? (nih.gov)
  • This study will look at whether a health coach can help people who have asthma, COPD, or asthma-COPD overlap syndrome with their condition. (nih.gov)
  • Interstitial changes in asthma-COPD overlap syndrome. (nih.gov)
  • 10. Patient with asthma-COPD overlap syndrome or any other respiratory disease such as pneumonia, tuberculosis, pulmonary embolism, etc. (who.int)
  • In cardiology, genetic conditions such as Brugada syndrome can share features with related disorders caused by mutations in the same gene. (wikipedia.org)
  • Brugada syndrome can also overlap with arrhythmogenic cardiomyopathy due to certain mutations in the plakophilin gene. (wikipedia.org)
  • The true incidence of somatic mutations in MDS/MPN overlap syndromes remains uncertain, since these syndromes were previously under-diagnosed. (medscape.com)
  • Mutation analysis of the TBCE gene of this syndrome was shown to be due to Polymerase chain reaction/single-strand mutations in the TBCE gene in chromosom- conformation polymorphism analysis and al area 1q42-q43 [ 4,5 ]. (who.int)
  • Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. (lu.se)
  • TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. (cdc.gov)
  • Examples of overlap syndromes can be found in many medical specialties such as overlapping connective tissue disorders in rheumatology, and overlapping genetic disorders in cardiology. (wikipedia.org)
  • Examples of overlap syndromes in rheumatology include mixed connective tissue disease and scleromyositis. (wikipedia.org)
  • In overlap syndrome, features of the following diseases are found (most common listed): Systemic lupus erythematosus (SLE) Systemic sclerosis Polymyositis Dermatomyositis Rheumatoid arthritis (RA) Sjögren's syndrome Eosinophilic granulomatosis with polyangiitis (EGPA) Autoimmune thyroiditis Antiphospholipid antibody syndrome The treatment of overlapping connective tissue disorders is mainly based on the use of corticosteroids and immunosuppressants. (wikipedia.org)
  • These are called undifferentiated systemic rheumatic (connective tissue) diseases or overlap syndromes. (medlineplus.gov)
  • As COPD and OSA are common, COPD-OSA syndrome has been postulated [ 3 ]. (e-jsm.org)
  • COPD-OSA overlap syndrome was suspected. (e-jsm.org)
  • Healio Pulmonology highlighted a presentation by Dr. Samuel Krachman at the 2023 GOLD International COPD Conference on cardiovascular disease severity in patients with COPD-OSA overlap. (templehealth.org)
  • Early recognition of such overlap syndromes is clinically significant from treatment point of view. (manipal.edu)
  • The patient was clinically diagnosed with overlapping BBE and GBS. (nel.edu)
  • [ 10 ] According to these authors, such overlap may support the theory of somatic mosaicism. (medscape.com)
  • An overlap syndrome is a medical condition which shares features of at least two more widely recognised disorders. (wikipedia.org)
  • Myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN) overlap syndromes-disorders that include features of both myelodysplastic syndrome (MDS) and myeloproliferative neoplasm (MPN)-are entities whose diagnosis and management have proved challenging. (medscape.com)
  • Furthermore, we showed that the remaining genes with damaging variants in CDH significantly overlap with genes implicated in other developmental disorders. (columbia.edu)
  • Klippel-Trenaunay syndrome and Sturge-Weber syndrome are rare disorders with neurologic and cutaneous signs of vascular origin. (pediatricneurosciences.com)
  • Hamartomatous polyposis syndromes (HPS) are rare cancer-predisposing disorders including Juvenile polyposis (JPS), Peutz-Jeghers (PJS) and PTEN hamartomatous syndromes (PHS). (mdpi.com)
  • Our sleep doctors also work closely with the Temple Bariatric Program and Chronic Obstructive Pulmonary Disease (COPD) Program to provide comprehensive treatment for patients whose sleep disorders overlap with COPD or obesity. (templehealth.org)
  • Sturge-Weber syndrome is a mesodermal phakomatosis characterized by port-wine naevus covering face and cranium supplied by first division of trigeminal nerve along with atrophy and calcification of cerebral hemisphere homolateral to the skin lesion. (pediatricneurosciences.com)
  • Conclusion: In patients with F. necrophorum bacteremia, patients with Lemierre's syndrome had shorter TTP, yet substantial overlap was seen. (lu.se)
  • Despite the substantial overlap, the extent to which the two diagnoses are manifestations of the same disease or distinct entities remains unresolved [ 4 , 6 , 7 , 9 - 15 ]. (cdc.gov)
  • Fitzgerald, M. "Schizophrenia and autism/Asperser's syndrome: overlap and difference. (medicinenet.com)
  • These impediments necessitate the discovery of more objective diagnostic tools-tests for molecular and cytogenetic abnormalities that drive the pathogenesis of these syndromes. (medscape.com)
  • The pathogenesis of Haberland syndrome remains unknown. (medscape.com)
  • Dysgenesia of the cephalic neural crest and the anterior neural tube is a most widely accepted theory of the pathogenesis of Haberland syndrome. (medscape.com)
  • 13 However, this conclusion has been criticized since the authors measured only four of the five features of the metabolic syndrome, and the cut-offs used for defining hypertension, dyslipidemia, and insulin resistance were different from those commonly proposed for diagnosis of this entity. (acc.org)
  • Therefore, the diagnosis of autoimmune hepatitis-primary sclerosing cholangitis overlap syndrome was made, and prednisolone, azathioprine, and ursodeoxycholic acid was initiated. (biomedcentral.com)
  • As the child had both the features of Sturge-Weber syndrome and Klippel-Trenaunay syndrome, a diagnosis of an overlap syndrome was made. (pediatricneurosciences.com)
  • Lemierre's syndrome was defined as a positive blood culture with F. necrophorum, a preceding oropharyngeal infection, and a radiologically confirmed diagnosis of neck venous thrombosis or signs of septic pulmonary embolism. (lu.se)
  • In gastroenterology, the term overlap syndrome may be used to describe autoimmune liver diseases that combine characteristic features of autoimmune hepatitis, primary biliary cirrhosis and primary sclerosing cholangitis. (wikipedia.org)
  • Regulatory T-cell deficiency leads to features of autoimmune liver disease overlap syndrome in scurfy mice. (bvsalud.org)
  • ABSTRACT We studied 21 patients with Sanjad-Sakati syndrome (SSS) from 16 families. (who.int)
  • BACKGROUND: The unique phenotypic and genetic aspects of obsessive-compulsive (OCD) and attention-deficit/hyperactivity disorder (ADHD) among individuals with Tourette syndrome (TS) are not well characterized. (cshl.edu)
  • Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan. (cdc.gov)
  • We present the case of a 63-year-old woman with a past history of Overlap Syndrome (OS) and clinical manifestations suggestive of Amyopathic Dermatomyositis, Rheumatoid Arthritis, and Systemic Lupus Erythematosus. (iasp-pain.org)
  • We describe a case with features suggestive of overlap between them. (pediatricneurosciences.com)
  • In a series of case reports, Neary and Snowden outlined a syndrome with initial symptoms that were suggestive of psychiatric illness. (medscape.com)
  • Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). (lu.se)
  • A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. (lu.se)
  • Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome. (lu.se)
  • compared the incidence of metabolic syndrome in a group of 93 patients with a first episode of unprovoked DVT and in 107 controls.9 They found metabolic syndrome to be significantly more prevalent in patients with unprovoked DVT than in controls, with an adjusted odds ratio of 2.16 [95% confidence interval (CI) 1.19- 3.90]. (acc.org)
  • TTP was significantly shorter in patients with vs. without Lemierre's syndrome 21 h (17-25 95CI) vs. 27 h (23-31 95CI) (p=0.03, Student's t-test). (lu.se)
  • After adjusting for age, body mass index (BMI), and smoking, OSAS patients were found to be nearly six times more likely to have metabolic syndrome than controls. (acc.org)
  • The resulting data may have important implications for the management of COPD patients who may have Overlap Syndrome. (technologynetworks.com)
  • Pulmonologists are learning how they can help direct treatment for asthma patients, but with this additional clinical research we are demonstrating that because of overlap disease it can also help for care of their patients with COPD who may have an asthma component (Overlap Syndrome). (technologynetworks.com)
  • Patients with an overlap syndrome have a worse prognosis than those with COPD or OSA alone. (e-jsm.org)
  • Patients with an overlap of the pharyngeal-cervical-brachial variant of Guillain-Barre syndrome and Miller Fisher syndrome (PCB/MFS) have rarely been reported. (bezmialem.edu.tr)
  • Results: 41 episodes of F. necrophorum bacteremia were analyzed, of which 15 (37%) occurred in patients with Lemierre's syndrome. (lu.se)
  • Obstructive sleep apnea syndrome (OSAS) is well known to be a highly prevalent sleep disorder. (acc.org)
  • Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. (dspace-express.com)
  • Here, we used clinical data from 34 individuals with truncating variants in SPEN to define a neurodevelopmental disorder presenting with features that overlap considerably with those of proximal del1p36 syndrome. (dspace-express.com)
  • when this occurs, the disorder is designated "overlap syndrome. (medscape.com)
  • Subsequently, the PPA syndrome was defined as a disorder limited to progressive aphasia, without general cognitive impairment or dementia, over a 2-year period. (medscape.com)
  • An overlap syndrome can be seen whereby a mutation in the SCN5A gene encoding the cardiac sodium channel causes a reduction in the peak sodium current leading to the typical ECG features of Brugada syndrome, but which simultaneously increases the sustained late sodium current leading to the ECG features of Long QT syndrome type 3. (wikipedia.org)
  • SPEN also emerges as a relevant gene for del1p36 syndrome by co-expression analyses. (dspace-express.com)
  • Defects in this gene are a cause of Pitt-Hopkins syndrome. (nih.gov)
  • The association of the limited cutaneous form of systemic scleroderma (lcSSc) and PBC is known as Reynolds syndrome. (journalmc.org)
  • Common phenotypes of MYRF de novo variant carriers include CDH, congenital heart disease and genitourinary abnormalities, suggesting that it represents a novel syndrome. (columbia.edu)
  • Autoimmune hepatitis-primary sclerosing cholangitis (AIH-PSC) overlap syndrome is a clinical, biochemical, immunological, and histological feature of AIH with cholangiographic abnormalities characteristic of PSC [ 1 ]. (biomedcentral.com)
  • The term polyangiitis overlap syndrome refers to a systemic vasculitis that shares features with two or more distinct vasculitis syndromes. (wikipedia.org)
  • The most common type of polyangiitis overlap syndrome is microscopic polyangiitis (MPA), which shares features with EGPA, granulomatosis with polyangiitis and panarteritis nodosa. (wikipedia.org)
  • The overlap of MDS and MPN features in these syndromes is characterized by presence of cytopenias (due to dysplasia) and increased blood cell counts (due to myeloproliferation)-either or both of which may be present in the same patient. (medscape.com)
  • 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. (biomedcentral.com)
  • Our findings suggest that Treg-deficient scurfy mice spontaneously develop clinical, serological, and immunopathological characteristics of AILD with overlapping features of PBC and AIH . (bvsalud.org)
  • Deletions involving two non-overlapping regions, known as the distal (telomeric) and proximal (centromeric) critical regions, are sufficient to cause the majority of the recurrent clinical features, although with different facial features and dysmorphisms. (dspace-express.com)
  • As lupus and systemic scleroderma have overlapping features, distinguishing between them can be challenging. (medicalnewstoday.com)
  • Two new studies show that haploinsufficiency for TGFB2 causes a familial syndrome of thoracic aortic aneurysms and dissections with other clinical features that overlap the Marfan, Loeys-Dietz spectrum of syndromes. (nature.com)
  • Later occurrence is typical for late-onset aGVHD, overlap syndrome (features of aGVHD and cGVHD), or cGVHD. (hindawi.com)
  • The association between PBC and other autoimmune conditions, such as Sjögren's syndrome, rheumatoid arthritis, Hashimoto's thyroiditis or systemic sclerosis occurs in 84% of cases [ 1 , 2 , 6 - 10 ]. (journalmc.org)
  • Sturge- Weber syndrome More Details More Details occurs sporadically with a frequency of 1 in 50,000. (pediatricneurosciences.com)
  • [1] This syndrome occurs sporadically with a frequency of approximately 1 in 50,000. (pediatricneurosciences.com)
  • Since Lemierre's syndrome occurs after an oropharyngeal infection with the development and subsequent embolization of septic thrombophlebitis of the internal jugular vein, it could also be considered an endovascular infection, similar to infective endocarditis. (lu.se)
  • Contrary to the above findings, in a post hoc analysis of the Heart Outcomes Prevention Evaluation (HOPE) study, the presence of metabolic syndrome was not found to be associated with an increased risk of VTE. (acc.org)
  • The presence of autoantibodies, clinical, and serological findings can sometimes occur in different combinations leading to overlap syndromes, which is rare. (manipal.edu)
  • These findings are in line with the interpretation of Lemierre's syndrome as an endovascular infection. (lu.se)
  • Peripheral blood hypereosinophilia in conjunction with autoimmune hepatitis-primary sclerosing cholangitis overlap syndrome has not been reported yet. (biomedcentral.com)
  • Here we present a case of autoimmune hepatitis-primary sclerosing cholangitis overlap syndrome with hypereosinophilia. (biomedcentral.com)
  • Additionally, ASMA can be positive in primary biliary cirrhosis, primary sclerosing cholangitis, and overlap syndromes associated with AIH-1. (medscape.com)
  • Rheumatoid Meningitis in a patient with Overlap Syndrome: the usefulness of ACPA determination in CSF. (iasp-pain.org)
  • Herein, we present a patient with an overlap of discoid lupus erythematosus and lichen planus who was successfully treated with thalidomide for over 19 years without significant side effects. (escholarship.org)
  • Recently, a number of observational and case control studies have shown associations between OSAS, metabolic syndrome and procoagualant states. (acc.org)
  • As with OSA, a number of case control studies have been published exploring the potential association between the metabolic syndrome and VTE. (acc.org)
  • Here, we report a case of AIH-PBC overlap syndrome with a brief review of literature on overlap syndromes. (manipal.edu)
  • Here we present a case of AIH-PSC overlap syndrome with hypereosinophilia. (biomedcentral.com)
  • A case report of overlapping Bickerstaff brainstem encephalitis and Guillain-Barre syndrome. (nel.edu)
  • We report a case of a 23-year-old man diagnosed with overlapping Bickerstaff brainstem encephalitis (BBE) and Guillain-Barre syndrome (GBS). (nel.edu)
  • Feng J, Fu X, Xie W, Lv X, Zhang Y, Meng H. A case report of overlapping Bickerstaff brainstem encephalitis and Guillain-Barre syndrome. (nel.edu)
  • His case study "On the relationship between aphasia and senile atrophy of the brain" still serves as a frame of reference for apparently focal brain syndromes in diffuse or generalized degenerative diseases of the brain. (medscape.com)
  • OBJECTIVES: The purpose of this paper is to assess the overlap and stability of two different case definitions of carpal tunnel syndrome CTS. (cdc.gov)
  • CONCLUSION: Clinical case definitions of CTS based on diagrams and self-assessment, and clinical evaluation have limited overlap. (cdc.gov)
  • Chronic obstructive pulmonary disease (COPD) and obstructive sleep apnea (OSA) are prevalent and commonly co-occur as overlap syndrome. (e-jsm.org)
  • ACPA levels in CSF could be a relevant diagnostic clue in the setting of central nervous system (CNS) disturbance and overlapping autoimmune conditions that include RA. (iasp-pain.org)
  • The more rare MDS/MPN overlap syndromes include MDS/MPN with neutrophilia and MDS/MPN, not otherwise specified. (medscape.com)
  • Her research interests include immune correlates for influenza and severe acute respiratory syndrome coronavirus 2. (cdc.gov)
  • SPEN encodes a transcriptional repressor commonly deleted in proximal del1p36 syndrome and is located centromeric to the proximal 1p36 critical region. (dspace-express.com)
  • In 2004, Cultrera et al described a female infant that showed significant overlap of encephalocraniocutaneous lipomatosis with oculocerebrocutaneous Delleman syndrome. (medscape.com)
  • Multiple epidemiological studies have found links between OSAS and metabolic syndrome. (acc.org)
  • Cachexia represents a complex multi-organ syndrome associated with cancer and chronic diseases. (mdpi.com)
  • The single-visit, outpatient study was conducted in 97 subjects age 40 and older with COPD or overlap syndrome. (technologynetworks.com)
  • The purpose of this study was to investigate if Lemierre's syndrome was associated with shorter TTP in F. necrophorum-bacteremia. (lu.se)