Objective-To estimate the heritability of carotid intima-media thickness (IMT), a surrogate marker for atherosclerosis, independent of traditional coronary risk factors.Methods and Results-We performed a classical twin study of carotid IMT using 98 middleaged male twin pairs, 58 monozygotic (MZ) and 40 dizygotic (DZ) pairs, from the Vietnam Era Twin Registry. All twins were free of overt cardiovascular disease. Carotid IMT was measured by ultrasound. Bivariate and multivariate analyses were used to determine the association between traditional cardiovascular risk factors and carotid IMT. Intraclass correlation coefficients and genetic modeling techniques were used to determine the relative contributions of genes and environment to the variation in carotid IMT. In our sample, the mean of the maximum carotid IMT was 0.75 ± 0.11. Age, systolic blood pressure and HDL were significantly associated with carotid IMT. The intraclass correlation coefficient for carotid IMT was larger in MZ (0.66; 95% confidence interval [CI], 0.62-0.69) than in DZ twins (0.37; 95% CI, 0.29-0.44), and the unadjusted heritability was 0.69 (95% CI, 0.54-0.79). After adjusting for traditional coronary risk factors, the heritability of carotid IMT was slightly reduced but still of considerable magnitude (0.59; 95% CI, 0.39-0.73).Conclusion-Genetic factors have a substantial influence on the variation of carotid IMT. Most of this genetic effect occurs through pathways independent of traditional coronary risk factors.
Introduction: Periodontal disease is defined as an inflammation of the gums that may result in loss of the tissues holding the teeth in its place. The signs and symptoms include red and/or swollen gums, bleeding gums, halitosis or in severe cases, loosening of teeth. Periodontal diseases act as a risk factor for several health conditions including diabetes and cardiovascular diseases and it can even result in adverse pregnancy outcomes. Therefore, in this study, we aim to assess the knowledge of medical practitioners regarding periodontal diseases and its impact on overall health.Methods: We conducted a cross-sectional, questionnaire-based study that included 100 medical practitioners working in the Combined Military Hospital Lahore, Pakistan.Results: In our study, 83.0% participants knew the definition of periodontal disease; 7.0% of the participants responded that they take their patient’s periodontal history; 26.0% screened their patients for gums related problems while 87.0% reported that they are comfortable in performing an oral examination. 80.0% of the participants agreed that periodontal disease can be a risk factor for diabetes; 73.0% said they believe that it can lead to adverse pregnancy outcomes; 62.0% thought that it can result in cardiovascular diseases.Conclusion: Most of the participants in our study had a considerable amount of knowledge about periodontal diseases. However, it is important to stress the value of taking a detailed periodontal history and screening patients for periodontal problems.
Case report - Introduction Juvenile-onset systemic lupus erythematosus (jSLE) is a rare systemic autoimmune-disease affecting children, with an incidence between 0.5 and 6 per 100,000. A 20-year-old female with known jSLE was diagnosed six years ago, age 14, following multiple attendances to A&E with non-specific symptoms. She was initially discharged with simple analgesia but later admitted to the paediatric ward with severe central chest pain. Investigations confirmed pleuro-pericardial effusion and positive lupus antibodies. She subsequently had recurrent flares with predominantly renal involvement. She remained symptomatic despite multiple combined immunosuppressive agents including biological therapies. Unfortunately, her kidney-functions deteriorated, requiring close monitoring in the Advanced Kidney-Care Clinic. Case report - Case description A 14-year-old female who was otherwise fit and healthy with no family history of autoimmune conditions presented to the Emergency department with constant throbbing limb-pain and recurrent episodes of chest pains. Immunological investigations revealed positive anti-nuclear antibodies (ANA), anti-double-stranded(ds)-DNA antibodies, C1Q-antibody and lupus inhibitor on two repeat tests. Echocardiogram showed pleuro-pericardial effusion and due to the high risk of cardiac tamponade, she was transferred to a tertiary centre for further management. She had intravenous steroid with good resolution of symptoms, and subsequently received maintenance therapy of azathioprine and hydroxychloroquine. She stayed in remission for approximately one year before her clinical condition worsened. She started to develop active inflammatory arthritis and serositis, with increasing anti-dsDNA titres, reducing complement levels, worsening anaemia and a positive direct antiglobulin test. Oral corticosteroids were recommenced and azathioprine was switched to mycophenolate-mofetil. She subsequently had recurrent flares; predominantly renal involvement and worsening proteinuria. This did not improve with repeat courses of antibiotics given for presumed urinary tract infections (UTIs), prompting renal biopsy which confirmed active renal lupus (combined Class III and V lupus nephritis). Rituximab and tacrolimus were initiated but rituximab was withheld after the first dose due to severe, widespread desquamating rash, mucosal ulceration and fever, biopsy-proven and drug-induced. Short-term remission after 1 dose of rituximab and then renal relapse with repeat renal biopsy showed class 5 lupus nephritis. Intravenous cyclophosphamide with Euro-lupus regimen was given. 5 months after discontinuation of cyclophosphamide her renal disease relapsed again with rising anti-dsDNA, ESR and proteinuria to > 6g/l, despite mycophenolate. Repeat and extended course of cyclophosphamide was restarted. Combination MMF and tacrolimus did not maintain control of disease and renal function continued to decline. Belimumab IV-monthly was added in combination and proteinuria halved, with stabilisation of renal function, although now with eGFR 25ml/min. The most recent biopsy shows chronic damage. SLEDAI-improved from 22 to 10. Case report - Discussion In children, adolescent females are predominantly affected as observed in this case. The peak age of onset is around 12 years, often with more severe disease presentation than lupus in adults; with a higher incidence of major organ involvement and aggressive disease course with a higher chance of developing complications. She developed uncontrolled hypertension and nephrotic syndrome requiring treatment with multiple antihypertensive agents and thrombosis prevention with DOACs. The patient was offered but refused anaemia treatment with erythropoietin. She received infection prevention treatment (PCP prophylaxis) and GnRH agonist injections to preserve ovarian function while on cyclophosphamide. Later, she developed iatrogenic cushingoid syndrome and severe facial acne. Poor compliance, commonly seen in this age group, possibly contributed to the poor outcomes. Other medication-related complications included retinal hydroxychloroquine toxicity that led to dose reduction. Allergy to rituximab (Mabthera) prevented its further use; given the severity of reaction concerns, other biosimilar humanized anti-CD20 antibodies were considered, but difficult to obtain; deteriorating renal function with predominantly damaged kidneys and class V nephritis on biopsy and aiming to control immunology along with other active symptoms (arthritis, serositis–pleurisy, systemic symptoms, anaemia) options were limited. There was increasing evidence to use belimumab plus tacrolimus +/- Mycophenolate-Mofetil to maintain remission. Belimumab was used after a repeat course of cyclophosphamide for this patient, after discussion with tertiary renal centres. During the course of her illness, she had progressively deteriorating renal function, which prompted discussion for renal replacement therapy or renal transplant. Considering that this was affecting her at such a young age, she was advised to keep an up-to-date vaccination status. Her worsening condition as well as its associated complications related to treatment and polypharmacy have significantly affected her mental health and quality of life in many ways, including suffering from depression and fatigue. Frequent hospital visits for investigations and treatment also hampered her education. This emphasizes the importance of social, family, and educational support for patients with this condition. In conclusion, despite a multidisciplinary approach and access to specialist services severe relapsing course of SLE and multiple diseases and treatment-related complications developed with co-morbidity, leading to life-changing organ damage and impact on quality of life. Case report - Key learning points > To conclude, jSLE is a challenging disease that is both difficult to diagnose and to treat. Clinicians should be aware of the greater risk of systemic complications in children with SLE.
Case report - Introduction We report a rare case of 20-year-old male diagnosed with congenital sarcoidosis (Blau Syndrome) presenting with a triad of skin rash, arthritis and bilateral uveitis. He has had recurrent flares of sight-threatening bilateral uveitis, as well as persistent arthritis, which has continued despite treatment with multiple immunosuppressive agents and corticosteroids. The best control has been achieved with combination of methotrexate and infliximab which he has returned to; however, complications of frequent infections has necessitated breaks in treatment. Case report - Case description A 4-year-old male presented with inflammatory skin rash which was biopsied and diagnosed as sarcoid lesion. He developed bilateral blurring of vision and diagnosed with uveitis, which was treated with topical and oral steroids. He then experienced multiple joint pains with synovitis. His father had been diagnosed from a young age with sarcoidosis. Other possible causes were ruled out. From early childhood, our patient was treated with methotrexate, then methotrexate and azathioprine for recurrent uveitis, but required long-term oral prednisolone. He started infliximab with methotrexate in adolescence with good response and weaned his steroids. However, uveitis flared when infliximab was stopped for appendicectomy, requiring rescue with oral and intraocular steroids. Further flares with cystoid macular oedema secondary to sarcoid uveitis and arthritis flares required high-dose steroids, contributing to iatrogenic cushingoid syndrome. Beta-haemolytic streptococcal infection led to guttate psoriasis, after which he had more persistent polyarticular inflammation and tenosynovitis. Antibodies were detected against infliximab although clinically uveitis continued to respond. Adalimumab caused site injection reactions. MDT discussions recommenced higher dose infliximab. Long-standing nausea after methotrexate, oral or subcutaneous, despite folic acid and anti-emetics, became intolerable. Transfer of care to another rheumatology centre focused on trying to control his arthritis. Leflunomide and then mycophenolate-mofetil replaced methotrexate. Infliximab was then switched to tofacitinib (developed severe headache) and then baricitinib. Joint symptoms improved on baricitinib, and nausea reduced with mycophenolate; however, his uveitis flared severely again requiring further high-dose oral and intraocular steroid rescue. Further MDT and patient discussion resulted in restarting methotrexate 20mg weekly (enduring nausea) and infliximab 5mg/kg monthly. Uveitis settled and arthritis control remained stable over the last 12 months with reduction in prednisolone to 5mg daily. Recurrent infections with recent pilonidal sinus continue to cause treatment interruptions. Case report - Discussion Sarcoidosis is a chronic, idiopathic multisystem, granulomatous disorder rarely occurring in children. Early onset sarcoidosis/Blau syndrome (familial) is distinct, presenting in children around age 4 years and characterised by the triad of skin, joint and eye manifestations without the pulmonary involvement seen in adults. Children with Blau syndrome can develop severe complications such as blindness, growth retardation, heart involvement, renal failure and death. Our patient was diagnosed with Blau syndrome based on the symptom triad and NOD2 gene mutation positive. He had recurrent flares of severe uveitis and difficult to manage joint disease involving his wrists/hands, shoulders, knees, ankles with tenosynovitis. He required shoulder decompression, knee-meniscal surgery and plastic-surgery to finger tendons. With early treatment he has grown well and preserved visual acuity (6/9 in both eyes), with no other organ involvement. He works full-time. He has suffered from depression and struggled with body image issues, particularly from cushingoid changes. Difficult patient choices balanced medication side effects and control of eye/joint inflammation. He endures nausea after weekly methotrexate and some ongoing joint symptoms to enable his uveitis-responsive treatment to be prioritised. Recurrent infections interrupted use of the most efficacious immunosuppressive therapy (infliximab and methotrexate). Jak Inhibitors provided some benefit for joint symptoms but did not control his uveitis. Different mechanisms seem to be important in the perpetuation of his uveitis and arthritis given the differential responses to treatment. Other treatment options such as anti-IL1 therapy were considered; however, limited data for eye inflammation results in patient continuing on his current therapy. Multi-disciplinary care/co-ordination is essential in managing this complex, rare condition to balance optimisation of his medications to treat his most organ threatening and debilitating symptoms. Genetic studies have enabled confirmation of the familial basis of his condition and autosomal dominant inheritance risk. Case report - Key learning points
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