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Connective Tissue Diseases

Connective Tissue Diseases: A diverse group of disorders affecting the structural and functional integrity of the body's connective tissues, such as tendons, ligaments, fascia, and the fibrous components of organs.
These diseases can impact various systems, including the musculoskeletal, cardiovascular, and respiratory systems.
Clinicial manifestations may inculde joint pain, skin changes, and organ dysfunction.
Effective research and treatment of these complex conditions requires careful protocol optimization to ensure reliable, accurate results.

Most cited protocols related to «Connective Tissue Diseases»

1
Assessing Comorbidities and Outcomes in COVID-19
Demographic, clinical, and outcome data were collected by using a prespecified case report form. Comorbidities were defined according to a modified Charlson comorbidity index.10 (link) Comorbidities collected were chronic cardiac disease, chronic respiratory disease (excluding asthma), chronic renal disease (estimated glomerular filtration rate ≤30), mild to severe liver disease, dementia, chronic neurological conditions, connective tissue disease, diabetes mellitus (diet, tablet, or insulin controlled), HIV or AIDS, and malignancy. These conditions were selected a priori by a global consortium to provide rapid, coordinated clinical investigation of patients presenting with any severe or potentially severe acute infection of public interest and enabled standardisation.
Clinician defined obesity was also included as a comorbidity owing to its probable association with adverse outcomes in patients with covid-19.11 (link)
12 (link) The clinical information used to calculate prognostic scores was taken from the day of admission to hospital.13 (link) A practical approach was taken to sample size requirements.14 We used all available data to maximise the power and generalisability of our results. Model reliability was assessed by using a temporally distinct validation cohort with geographical subsetting, together with sensitivity analyses.
Knight S.R., Ho A., Pius R., Buchan I., Carson G., Drake T.M., Dunning J., Fairfield C.J., Gamble C., Green C.A., Gupta R., Halpin S., Hardwick H.E., Holden K.A., Horby P.W., Jackson C., Mclean K.A., Merson L., Nguyen-Van-Tam J.S., Norman L., Noursadeghi M., Olliaro P.L., Pritchard M.G., Russell C.D., Shaw C.A., Sheikh A., Solomon T., Sudlow C., Swann O.V., Turtle L.C., Openshaw P.J., Baillie J.K., Semple M.G., Docherty A.B., Harrison E.M., Baillie J.K., Semple M.G., Openshaw P.J., Carson G., Alex B., Bach B., Barclay W.S., Bogaert D., Chand M., Cooke G.S., Docherty A.B., Dunning J., da Silva Filipe A., Fletcher T., Green C.A., Harrison E.M., Hiscox J.A., Ho A.Y., Horby P.W., Ijaz S., Khoo S., Klenerman P., Law A., Lim W.S., Mentzer A.J., Merson L., Meynert A.M., Noursadeghi M., Moore S.C., Palmarini M., Paxton W.A., Pollakis G., Price N., Rambaut A., Robertson D.L., Russell C.D., Sancho-Shimizu V., Scott J.T., Sigfrid L., Solomon T., Sriskandan S., Stuart D., Summers C., Tedder R.S., Thomson E.C., Thwaites R.S., Turtle L.C., Zambon M., Hardwick H., Donohue C., Ewins J., Oosthuyzen W., Griffiths F., Norman L., Pius R., Drake T.M., Fairfield C.J., Knight S., Mclean K.A., Murphy D., Shaw C.A., Dalton J., Girvan M., Saviciute E., Roberts S., Harrison J., Marsh L., Connor M., Halpin S., Jackson C., Gamble C., Leeming G., Law A., Hendry R., Scott-Brown J., Greenhalf W., Shaw V., McDonald S., Ahmed K.A., Armstrong J.A., Ashworth M., Asiimwe I.G., Bakshi S., Barlow S.L., Booth L., Brennan B., Bullock K., Catterall B.W., Clark J.J., Clarke E.A., Cole S., Cooper L., Cox H., Davis C., Dincarslan O., Dunn C., Dyer P., Elliott A., Evans A., Fisher L.W., Foster T., Garcia-Dorival I., Greenhalf W., Gunning P., Hartley C., Ho A., Jensen R.L., Jones C.B., Jones T.R., Khandaker S., King K., Kiy R.T., Koukorava C., Lake A., Lant S., Latawiec D., Lavelle-Langham L., Lefteri D., Lett L., Livoti L.A., Mancini M., McDonald S., McEvoy L., McLauchlan J., Metelmann S., Miah N.S., Middleton J., Mitchell J., Moore S.C., Murphy E.G., Penrice-Randal R., Pilgrim J., Prince T., Reynolds W., Ridley P.M., Sales D., Shaw V.E., Shears R.K., Small B., Subramaniam K.S., Szemiel A., Taggart A., Tanianis-Hughes J., Thomas J., Trochu E., van Tonder L., Wilcock E., Zhang J.E., Adeniji K., Agranoff D., Agwuh K., Ail D., Alegria A., Angus B., Ashish A., Atkinson D., Bari S., Barlow G., Barnass S., Barrett N., Bassford C., Baxter D., Beadsworth M., Bernatoniene J., Berridge J., Best N., Bothma P., Brealey D., Brittain-Long R., Bulteel N., Burden T., Burtenshaw A., Caruth V., Chadwick D., Chambler D., Chee N., Child J., Chukkambotla S., Clark T., Collini P., Cosgrove C., Cupitt J., Cutino-Moguel M.T., Dark P., Dawson C., Dervisevic S., Donnison P., Douthwaite S., DuRand I., Dushianthan A., Dyer T., Evans C., Eziefula C., Fegan C., Finn A., Fullerton D., Garg S., Garg S., Garg A., Godden J., Goldsmith A., Graham C., Hardy E., Hartshorn S., Harvey D., Havalda P., Hawcutt D.B., Hobrok M., Hodgson L., Holme A., Hormis A., Jacobs M., Jain S., Jennings P., Kaliappan A., Kasipandian V., Kegg S., Kelsey M., Kendall J., Kerrison C., Kerslake I., Koch O., Koduri G., Koshy G., Laha S., Larkin S., Leiner T., Lillie P., Limb J., Linnett V., Little J., MacMahon M., MacNaughton E., Mankregod R., Masson H., Matovu E., McCullough K., McEwen R., Meda M., Mills G., Minton J., Mirfenderesky M., Mohandas K., Mok Q., Moon J., Moore E., Morgan P., Morris C., Mortimore K., Moses S., Mpenge M., Mulla R., Murphy M., Nagel M., Nagarajan T., Nelson M., Otahal I., Pais M., Panchatsharam S., Paraiso H., Patel B., Pepperell J., Peters M., Phull M., Pintus S., Pooni J.S., Post F., Price D., Prout R., Rae N., Reschreiter H., Reynolds T., Richardson N., Roberts M., Roberts D., Rose A., Rousseau G., Ryan B., Saluja T., Shah A., Shanmuga P., Sharma A., Shawcross A., Sizer J., Smith R., Snelson C., Spittle N., Staines N., Stambach T., Stewart R., Subudhi P., Szakmany T., Tatham K., Thomas J., Thompson C., Thompson R., Tridente A., Tupper-Carey D., Twagira M., Ustianowski A., Vallotton N., Vincent-Smith L., Visuvanathan S., Vuylsteke A., Waddy S., Wake R., Walden A., Welters I., Whitehouse T., Whittaker P., Whittington A., Wijesinghe M., Williams M., Wilson L., Wilson S., Winchester S., Wiselka M., Wolverson A., Wooton D.G., Workman A., Yates B, & Young P. (2020). Risk stratification of patients admitted to hospital with covid-19 using the ISARIC WHO Clinical Characterisation Protocol: development and validation of the 4C Mortality Score. The BMJ, 370, m3339.
Publication 2020
Acquired Immunodeficiency Syndrome Asthma Chronic Condition Chronic Kidney Diseases Connective Tissue Diseases COVID 19 Dementia Diabetes Mellitus Diet Disease, Chronic Glomerular Filtration Rate Heart Heart Diseases Hypersensitivity Infection Insulin Liver Diseases Malignant Neoplasms Obesity Patients Respiration Disorders Respiratory Rate Tablet
2
Validating Sjögren's Syndrome Criteria
In the absence of a gold standard diagnostic test for SS, conventional methods of validation based on direct estimation of quantities such as sensitivity and specificity are not directly applicable. The practice of defining a gold standard based on a series of cases and controls identified by expert clinicians is also not practical for SS, because diagnosis must rely on three clinical specialties. Further, since such diagnoses rely on the same tests that form the basis of proposed criteria, estimates of sensitivity and specificity will be inherently biased.
Acknowledging these difficulties, we based initial evaluation and validation of preliminary criteria primarily on a data-based approach including:
Results reported here are based on complete participant data on key diagnostic features from 6 SICCA sites collected through March 2010. In addition, for external validation we utilized data from approximately 300 participants not included in the data set used for criteria development, and representing 10 months of additional recruitment. We excluded participants with rheumatoid arthritis, systemic lupus, scleroderma, or other connective tissue disease from these analyses since there were only 87 (6%) such participants. Thus the proposed classification criteria apply to a target population of individuals who do not have SLE, RA, or other connective tissue diseases. The methodological approaches for each of the steps outlined follows:
Shiboski S., Shiboski C., Criswell L., Baer A., Challacombe S., Lanfranchi H., Schiødt M., Umehara H., Vivino F., Zhao Y., Dong Y., Greenspan D., Heidenreich A., Helin P., Kirkham B., Kitagawa K., Larkin G., Li M., Lietman T., Lindegaard J., McNamara N., Sack K., Shirlaw P., Sugai S., Vollenweider C., Whitcher J., Wu A., Zhang S., Zhang W., Greenspan J, & Daniels T. (2012). American College of Rheumatology Classification Criteria for Sjögren’s Syndrome: A Data-Driven, Expert Consensus Approach in the SICCA Cohort. Arthritis care & research, 64(4), 475-487.
Publication 2012
Connective Tissue Diseases Dermatosclerosis Diagnosis Gold Lupus Vulgaris Rheumatoid Arthritis Target Population Tests, Diagnostic
3
SICCA Registry Enrollment Criteria
The participants in the SICCA cohort have been enrolled since 2004 at five collaborating academically-based research groups, located in Argentina, China, Denmark, Japan and the United States, and directed from the University of California, San Francisco (12 (link)) (Table 1). Subsequently, additional research groups joined the SICCA project: in 2007, from the United Kingdom and in 2009, from India and two additional sites in the United States.
To be eligible for the SICCA registry, participants must be at least 21 years of age and have at least one of the following: symptoms of dry eyes or dry mouth; a previous suspicion or diagnosis of SS; elevated serum antinuclear antibodies (ANA), positive rheumatoid factor (RF), or anti-SSA/B; bilateral parotid enlargement in a clinical setting of SS; a recent increase in dental caries; or have diagnoses of rheumatoid arthritis or systemic lupus erythematosus and any of the above. The rationale for these eligibility criteria is that only patients with such characteristics would be evaluated for SS or considered for enrollment in a clinical trial designed to evaluate a potential therapeutic agent for SS. Therefore our classification criteria target individuals with signs and symptoms that may be suggestive of SS, not the general population.
Participants are recruited through local or national SS patient support groups, healthcare providers, public media, and populations served by all nine SICCA research groups. Exclusion criteria include known diagnoses of: hepatitis C, HIV, sarcoidosis, amyloidosis, active tuberculosis, graft versus host disease, autoimmune connective tissue diseases other than rheumatoid arthritis or lupus; past head and neck radiation treatment; current treatment with daily eye drops for glaucoma; corneal surgery in the last 5 years to correct vision; cosmetic eyelid surgery in the last 5 years; or physical or mental condition interfering with successful participation in the study. Contact lens wearers are asked to discontinue wear for 7 days before the SICCA examination. We do not exclude participants taking prescription drugs that may affect salivary or lacrimal secretion, but record their use and all other medications currently taken.
Shiboski S., Shiboski C., Criswell L., Baer A., Challacombe S., Lanfranchi H., Schiødt M., Umehara H., Vivino F., Zhao Y., Dong Y., Greenspan D., Heidenreich A., Helin P., Kirkham B., Kitagawa K., Larkin G., Li M., Lietman T., Lindegaard J., McNamara N., Sack K., Shirlaw P., Sugai S., Vollenweider C., Whitcher J., Wu A., Zhang S., Zhang W., Greenspan J, & Daniels T. (2012). American College of Rheumatology Classification Criteria for Sjögren’s Syndrome: A Data-Driven, Expert Consensus Approach in the SICCA Cohort. Arthritis care & research, 64(4), 475-487.
Publication 2012
Administration, Ophthalmic Amyloidosis Antibodies, Antinuclear Connective Tissue Diseases Contact Lenses Cornea Dental Caries Diagnosis Dry Eye Eligibility Determination Eyelids Glaucoma Graft-vs-Host Disease Head Health Personnel Hepatitis C virus Hypertrophy Lupus Erythematosus, Systemic Lupus Vulgaris Neck Operative Surgical Procedures Parotid Gland Patients Pharmaceutical Preparations Physical Examination Prescription Drugs Radiotherapy Rheumatoid Arthritis Rheumatoid Factor Sarcoidosis secretion Serum Therapeutics Tuberculosis Vision Xerostomia
4
Prospective Cohort Study of New-onset PMR
The study was a prospective cohort study that included a cohort of patients with new-onset PMR and a comparison cohort of non-PMR patients with various conditions mimicking PMR. Study subjects were recruited from 21 community-based and academic rheumatology clinics in 10 European countries and the USA. Inclusion criteria for PMR patients were age 50 years or older, new-onset bilateral shoulder pain and no corticosteroid treatment (for any condition) within 12 weeks before study entry, fulfilling all the inclusion and exclusion criteria defined by our previous report and in accordance with the judgement of the participating investigator that the patient had PMR.18 (link) Every effort was made to choose patients across the spectrum of disease severity. Corticosteroid treatment for PMR patients was initiated according to a predefined treatment protocol starting with 15 mg a day oral prednisone for weeks 1 and 2, 12.5 mg a day for weeks 3 and 4, 10 mg a day for weeks 6–11, 10 mg/7.5 mg every other day for weeks 12–15, 7.5 mg a day for weeks 16–25 and tapering according to treatment response from week 26 onwards. The gold standard for the pre-steroid diagnosis of PMR was established as above at presentation and when the diagnosis was maintained without an alternative diagnosis at week 26 of follow-up.
The non-PMR comparison cohort included conditions representative of the types that need to be distinguished from PMR, in both primary and secondary care. Inclusion criteria for the non-PMR comparison cohort were age 50 years or older, new-onset bilateral shoulder pain and a diagnosis of either inflammatory or non-inflammatory conditions, including new-onset RA, connective tissue diseases, various shoulder conditions (eg, bilateral rotator cuff syndrome and/or adhesive capsulitis, rotator cuff tear, glenohumeral osteoarthritis), fibromyalgia, generalised osteoarthritis and others. Patients known to have the condition for more than 12 weeks before the baseline evaluation (except fibromyalgia and chronic pain) were not eligible for inclusion. PMR patients with clinical suspicion of giant cell arteritis were included as part of the comparison cohort because these patients required different corticosteroid doses. Patients in the comparison cohort were included on the basis of clinician diagnosis and not on formal criteria. No guidelines were provided for treatment of the conditions in the comparison cohort.
Ethics board approval was obtained at all participating institutions before initiation of the study, and all participants gave written informed consent before enrollment.
Dasgupta B., Cimmino M.A., Maradit-Kremers H., Schmidt W.A., Schirmer M., Salvarani C., Bachta A., Dejaco C., Duftner C., Jensen H.S., Duhaut P., Poór G., Kaposi N.P., Mandl P., Balint P.V., Schmidt Z., Iagnocco A., Nannini C., Cantini F., Macchioni P., Pipitone N., Amo M.D., Espígol-Frigolé G., Cid M.C., Martínez-Taboada V.M., Nordborg E., Direskeneli H., Aydin S.Z., Ahmed K., Hazleman B., Silverman B., Pease C., Wakefield R.J., Luqmani R., Abril A., Michet C.J., Marcus R., Gonter N.J., Maz M., Carter R.E., Crowson C.S, & Matteson E.L. (2012). 2012 provisional classification criteria for polymyalgia rheumatica: a European League Against Rheumatism/American College of Rheumatology collaborative initiative. Annals of the Rheumatic Diseases, 71(4), 484-492.
Publication 2012
Adhesive Capsulitis Adrenal Cortex Hormones Chronic Pain Connective Tissue Diseases Degenerative Arthritides Diagnosis Europeans Fibromyalgia Giant Cell Arteritis Gold Inflammation Patients Prednisone Rotator Cuff Secondary Care Shoulder Shoulder Pain Steroids Syndrome Treatment Protocols
5
Classifying Systemic Sclerosis-Associated Pulmonary Hypertension
Sixty-two experienced centres (managing at least 40 SSc patients) from 18 countries in North America, Europe and Asia participated in the study between 2008 and 2011. Patients aged ≥18 years with a diagnosis of SSc (American College of Rheumatology criteria,18 (link) including patients with other connective tissue diseases who met these criteria) of >3 years’ duration from first non-Raynaud's symptom and a predicted DLCO of <60% (to enrich for a higher likelihood of PAH), were included. Patients were excluded if they had pulmonary hypertension (PH) confirmed by RHC prior to enrolment, were receiving recognised advanced PH therapy, had a forced vital capacity (FVC) <40% of predicted, renal insufficiency, previous evidence of clinically relevant left heart disease, or were pregnant.
Patients were classified as either non-PH, or WHO group 1 PH (PAH), WHO group 2 PH (PH due to left heart disease), or WHO group 3 PH (PH due to lung disease/hypoxia), according to current guidelines.10
19 WHO group 3 definition was based on Study Scientific Committee consensus applying a conservative interpretation of the literature to minimise misclassification of patients with evident lung disease as PAH. Classification definitions are summarised in figure 1.
Coghlan J.G., Denton C.P., Grünig E., Bonderman D., Distler O., Khanna D., Müller-Ladner U., Pope J.E., Vonk M.C., Doelberg M., Chadha-Boreham H., Heinzl H., Rosenberg D.M., McLaughlin V.V, & Seibold J.R. (2013). Evidence-based detection of pulmonary arterial hypertension in systemic sclerosis: the DETECT study. Annals of the Rheumatic Diseases, 73(7), 1340-1349.
Publication 2013
Connective Tissue Diseases Cor Pulmonale Diagnosis Forced Vital Capacity Heart Diseases High Blood Pressures Hypoxia Lung Lung Diseases Patients Pulmonary Hypertension Renal Insufficiency Therapeutics

Most recents protocols related to «Connective Tissue Diseases»

1
Periprosthetic Membrane Analysis in APL

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Publication 2023
Adult Arthropathy Bone-Implant Interface Connective Tissue Diseases Diagnosis Ethanol Ethics Committees, Clinical Females Femoral Fractures Femur Heads Fever Fracture, Bone Head Homo sapiens Infection Joints Males Necrosis Pain Paraffin Embedding paraform Patient Participation Patients Repeat Surgery Sinuses, Nasal Synovial Fluid Synovial Membrane System, Immune Tissue, Membrane Tissues Total Hip Arthroplasty X-Rays, Diagnostic
2
Screening for Pulmonary Hypertension in SSc
In this single-center, retrospective cohort study, SSc patients were included, who were referred by their rheumatologists for a screening for PH at the expert center for PH at the Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital, Germany. SSc patients were sent with a suspicion of PH due to symptoms and laboratory or lung functional abnormalities from 2010 to 2020. The results from a part of this cohort were published before [10 (link)]. The criteria for SSc classification by the American College of Rheumatology/European League Against Rheumatism were fulfilled by all patients [11 (link)]. Patients were divided into limited (lcSSc) or diffuse cutaneous SSc (dcSSc) according to LeRoy’s criteria [12 (link)]. Patients were not included if they were underaged, not able to provide informed consent, had connective tissue diseases other than SSc, or had no data of % HRC at baseline. The routine assessment of % HRC in our clinical laboratory began in July 2014; therefore, patients assessed before could not be included in the analysis unless % HRC was determined externally.
There was no objection against the study from the ethics committee of the Medical Faculty of Heidelberg University Hospital (internal number S-126/2021). The study complied with the current version of the Declaration of Helsinki.
Xanthouli P., Gordjani O., Benjamin N., Harutyunova S., Egenlauf B., Marra A.M., Haas S., Milde N., Blank N., Lorenz H.M., Fiehn C., Ulrich S., Distler O., Grünig E, & Eichstaedt C.A. (2023). Hypochromic red cells as a prognostic indicator of survival among patients with systemic sclerosis screened for pulmonary hypertension. Arthritis Research & Therapy, 25, 38.
Publication 2023
Clinical Laboratory Services Collagen Diseases Congenital Abnormality Connective Tissue Diseases Ethics Committees, Clinical Europeans Faculty, Medical Lung Patients Rheumatologist
3
Arterial Stiffness and Gender Differences
3934 patients who visited to the department of General Medicine, Geriatrics and Hypertension from the First Affiliated Hospital of Fujian Medical University, China were enrolled from January 2016 to December 2020 from Fuzhou Study (Registration No. ChiCTR2000039448). The exclusion criteria for this study were as following: Those who suffered from: 1, stroke within 3 months; 2, chronic renal failure (phase III or phase IV of chronic kidney disease); 3, any liver disease (the level of aspartate aminotransferase or alanine aminotransferase ≥3 times the upper limit of the normal in our laboratory); 4, acute inflammation; 5, peripheral artery diseases; 6, connective tissue diseases; 7, severe arrhythmia; 8, carotid artery occlusion and carotid sinus syndrome; 9, secondary hypertension. In the end, 775 subjects were excluded based on the exclusion criteria and 556 subjects without BMI data, a total of 2603 individuals were eligible and recruited (Figure 1).
The anthropometric indexes, blood pressure (BP), heart rate (HR), metabolic parameters, lipid profiles, high sensitivity C‐reactive protein (hsCRP), and carotid‐femoral pulse wave velocity (cfPWV) were measured in the subjects. Medical history and family history were recorded.
All participants were divided into 4 groups based on the gender and the presence of arterial stiffening based on a value ≥10 m/s of cfPWV according to the criteria of Expert consensus document on the measurement of aortic stiffness in daily practice using carotid‐femoral pulse wave velocity (group1 : male with cfPWV <10 m/s, group2 : male with cfPWV ≥10 m/s, group3 : female with cfPWV <10 m/s, group4 : female with cfPWV ≥10 m/s).5
Gong J., Han Y., Gao G., Chen A., Fang Z., Lin D., Liu Y., Luo L, & Xie L. (2023). Sex‐specific difference in the relationship between body fat percentage and arterial stiffness: Results from Fuzhou study. The Journal of Clinical Hypertension, 25(3), 286-294.
Publication 2023
Aortic Stiffness Arteries Aspartate Transaminase Blood Pressure Cardiac Arrhythmia Cerebrovascular Accident Chronic Kidney Diseases Common Carotid Artery Connective Tissue Diseases C Reactive Protein D-Alanine Transaminase Dental Occlusion Gender High Blood Pressures Inflammation Lipids Liver Diseases Males Patients Peripheral Arterial Diseases Rate, Heart Syncope, Carotid Sinus Woman
4
Genetic Analysis of hEDS Patients
The study group included 100 hEDS patients of Polish origin, women (84) and men (16), aged 17–63 years (median: 31 years). Patients were enrolled in the study by experienced clinical geneticists, according to the 2017 International Classification of the Ehlers-Danlos syndrome diagnostic criteria [1 (link)]. Joint hypermobility was evaluated on the Beighton scale. The control group consisted of 100 volunteers from the general Polish population matched by age and sex with the investigated group, who were healthy (including lack of EDS) at the time of the investigation and without a history of EDS in the family.
All hEDS patients or their parents provided informed consent to participate in the study. Consent to publish clinical/genetic data was also obtained from the patients or their parents.
The study was approved by the Ethics Committee of Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland (KB485/2013).
The analysis was performed on genomic DNA (gDNA), which was extracted from leukocytes (fibroblasts were not available) by QIAamp DNA Mini Kit (Qiagen, Germany) using standard procedures. In all patients, other types of EDS or other connective tissue disorders were excluded by testing them with NGS technology (Illumina NextSeq 550). The connective tissue disorder customer panel included COL5A1, COL5A2, COL3A1, COL1A1, COL1A2, TNXB, ADAMTS2, PLOD1, FKBP14, ZNF469, PRDM5, B4GALT7, B3GALT6, SLC39A13, CHST14, DSE, COL12A1, C1R, C1S, SEC23A, SEC24D, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, FBN1, FBN2, FLNA, and FLNB. Copy number variant (CNV) analysis was also performed. Sequencing data were aligned to the hg19 human reference genome. Based on the guidelines of the American College of Medical Genetics and Genomics, a minimum depth coverage of 30X was considered suitable for analysis. All patients negative for the NGS test were analysed for alterations in the SERPINH1 gene. Molecular analysis of the SERPINH1 gene was performed by Sanger sequencing (ABI3130XL) according to standard procedure (primer sequences available upon request). The pathogenicity of detected variants was assessed according to the ACMG guideline by Varsome [19 (link), 20 (link)].
Junkiert-Czarnecka A., Pilarska-Deltow M., Bąk A., Heise M, & Haus O. (2023). The role of gene encoding collagen secretion protein (SERPINH1) in the pathogenesis of a hypermobile type of Ehlers-Danlos syndrome. Advances in Dermatology and Allergology/Postȩpy Dermatologii i Alergologii, 40(1), 102-106.
Publication 2023
COL1A2 protein, human Connective Tissue Diseases Diagnosis Ehlers-Danlos Syndrome Ethics Committees Fibrillin-1 Fibroblasts Genes Genome Genome, Human Leukocytes Oligonucleotide Primers Parent Pathogenicity Patients PRDM5 protein, human Voluntary Workers Woman
5
Sjögren's Syndrome in African Americans
Cases were defined as pSS patients of AA. All cases fulfilled ACR/EULAR 2016 criteria for pSS and did not meet diagnostic criteria for other connective tissue diseases such as rheumatoid arthritis, SLE, scleroderma or mixed connective tissue disease. Patients who presented an associated connective tissue disease at pSS diagnosis or during follow-up were excluded. Ancestry based on parents’ origin was either self-declared if patients attended a standardised visit for suspicion of SS, or otherwise reported by physicians. Patients were not included if ancestry could not be ascertained. Each patient of AA has been paired with two randomly selected Caucasian controls from the same centre. In order to properly compare disease activity over time, we also matched cases and controls based on follow-up duration, thus limiting selection bias.
Beydon M., Seror R., Le Guern V., Chretien P., Mariette X, & Nocturne G. (2023). Impact of patient ancestry on heterogeneity of Sjögren’s disease. RMD Open, 9(1), e002955.
Publication 2023
Caucasoid Races Connective Tissue Diseases Dermatosclerosis Diagnosis Mixed Connective Tissue Disease Parent Patients Physicians Rheumatoid Arthritis

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More about "Connective Tissue Diseases"

Connective Tissue Disorders: A diverse group of conditions affecting the structural and functional integrity of the body's connective tissues, such as tendons, ligaments, fascia, and the fibrous components of organs.
These diseases can impact various systems, including the musculoskeletal, cardiovascular, and respiratory systems.
Clinical manifestations may include joint pain, skin changes, and organ dysfunction.
Effective research and treatment of these complex conditions requires careful protocol optimization to ensure reliable, accurate results.
These disorders are often characterized by abnormalities in the production, structure, or function of connective tissue components like collagen, elastin, and proteoglycans.
Common examples include rheumatoid arthritis, systemic lupus erythematosus, scleroderma, Marfan syndrome, Ehlers-Danlos syndrome, and fibromyalgia.
Researchers studying connective tissue diseases may utilize a variety of analytical tools and techniques.
SAS version 9.4, a popular statistical software, can be employed for data analysis, modeling, and visualization.
R version 3.6.1, an open-source programming language, also offers a wide range of packages for bioinformatics and statistical analyses.
Ingenuity Pathway Analysis (IPA) is a software tool that can help elucidate the complex pathways and interactions involved in these conditions.
Experimental protocols may involve the use of cell culture media like RPMI 1640, as well as antibiotics like penicillin and streptomycin to prevent microbial contamination.
Advanced imaging techniques, such as those provided by the Aquarius iNtuition software, can aid in the assessment of connective tissue structure and function.
For diagnostic purposes, assays like the Euroline myositis line-blot assay may be employed.
Statistical software like Stata can also play a role in the analysis of data related to connective tissue diseases.
Careful protocol optimization, as facilitated by PubCompare.ai's AI-driven approach, can help researchers ensure the reliability and accuracy of their findings, ultimately advancing the understanding and treatment of these complex conditions.