Silent sinus syndrome: an underdiagnosed entity.
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ABSTRACT:
SUBMITTER: Magalhaes C
PROVIDER: S-EPMC4693138 | biostudies-other | 2015 Aug
REPOSITORIES: biostudies-other
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Project description:IntroductionSilent sinus syndrome is a rare disorder that presents a diagnostic challenge, most of the patients with this syndrome present with ophthalmological complaints without any nasal sinus symptoms, and it has a painless course and slow development. The syndrome can be diagnosed clinically and confirmed radiologically, and CT imaging is considered the gold standard for its diagnosis. The classical radiographic findings are opacification and collapse of the sinus walls. Functional endoscopic sinus surgery (FESS) is the standard gold treatment of choice to arrest the progression of the disease.Presentation of caseA case report of a 37-years-old-female who was complaining of severe throbbing pain since 2009, is presented here where the diagnosis of SSS was obtained in 2018, this delay in diagnosing the situation had affected the patient lifestyle tremendously.DiscussionAccordingly, knowledge of the signs and features of SSS can result in an accurate diagnosis. Suspected cases of silent sinus syndrome require prompt ear, nose, and throat referral for consideration of definitive diagnosis and surgical management. Nasal endoscopy and clinical evaluation are also essential for the diagnosis.ConclusionOur recommendation is to consider SSS as a differential diagnosis for patients with spontaneous enophthalmos and hypoglobus, even in the absence of maxillary sinus opacification. Moreover, encourage all the specialists in the medical and the dental field to communicate well together in cases like this.
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Project description:Because of its powerful genetics, the adult zebrafish has been increasingly used for studying cardiovascular diseases. Considering its heart rate of ~100 beats per minute at ambient temperature, which is very close to human, we assessed the use of this vertebrate animal for modeling heart rhythm disorders such as sinus arrest (SA) and sick sinus syndrome (SSS). We firstly optimized a protocol to measure electrocardiogram in adult zebrafish. We determined the location of the probes, implemented an open-chest microsurgery procedure, measured the effects of temperature, and determined appropriate anesthesia dose and time. We then proposed an PP interval of more than 1.5 seconds as an arbitrary criterion to define an SA episode in an adult fish at ambient temperature, based on comparison between the current definition of an SA episode in humans and our studies of candidate SA episodes in aged wild-type fish and Tg(SCN5A-D1275N) fish (a fish model for inherited SSS). With this criterion, a subpopulation of about 5% wild-type fish can be considered to have SA episodes, and this percentage significantly increases to about 25% in 3-year-old fish. In response to atropine, this subpopulation has both common SSS phenotypic traits that are shared with the Tg(SCN5A-D1275N) model, such as bradycardia; and unique SSS phenotypic traits, such as increased QRS/P ratio and chronotropic incompetence. In summary, this study defined baseline SA and SSS in adult zebrafish and underscored use of the zebrafish as an alternative model to study aging-associated SSS.
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Project description:AimsThe aim of this study was to use human genetics to investigate the pathogenesis of sick sinus syndrome (SSS) and the role of risk factors in its development.Methods and resultsWe performed a genome-wide association study of 6469 SSS cases and 1 000 187 controls from deCODE genetics, the Copenhagen Hospital Biobank, UK Biobank, and the HUNT study. Variants at six loci associated with SSS, a reported missense variant in MYH6, known atrial fibrillation (AF)/electrocardiogram variants at PITX2, ZFHX3, TTN/CCDC141, and SCN10A and a low-frequency (MAF = 1.1-1.8%) missense variant, p.Gly62Cys in KRT8 encoding the intermediate filament protein keratin 8. A full genotypic model best described the p.Gly62Cys association (P = 1.6 × 10-20), with an odds ratio (OR) of 1.44 for heterozygotes and a disproportionally large OR of 13.99 for homozygotes. All the SSS variants increased the risk of pacemaker implantation. Their association with AF varied and p.Gly62Cys was the only variant not associating with any other arrhythmia or cardiovascular disease. We tested 17 exposure phenotypes in polygenic score (PGS) and Mendelian randomization analyses. Only two associated with the risk of SSS in Mendelian randomization, AF, and lower heart rate, suggesting causality. Powerful PGS analyses provided convincing evidence against causal associations for body mass index, cholesterol, triglycerides, and type 2 diabetes (P > 0.05).ConclusionWe report the associations of variants at six loci with SSS, including a missense variant in KRT8 that confers high risk in homozygotes and points to a mechanism specific to SSS development. Mendelian randomization supports a causal role for AF in the development of SSS.
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Project description:Interstitial lung disease (ILD) represents a frequent extra-glandular manifestation of primary Sjögren's Syndrome (pSS). Limited published data regarding phenotyping and treatment exists. Advances in managing specific ILD phenotypes have not been comprehensively explored in patients with coexisting pSS. This retrospective study aimed to phenotype lung diseases occurring in a well-described pSS-ILD cohort and describe treatment course and outcomes. Between April 2018 and February 2020, all pSS patients attending our Outpatient clinic were screened for possible lung involvement. Clinical, laboratory and high-resolution computed tomography (HRCT) findings were analyzed. Patients were classified according to HRCT findings into five groups: usual interstitial pneumonia (UIP), non-specific interstitial pneumonia (NSIP), desquamative interstitial pneumonia (DIP), combined pulmonary fibrosis and emphysema (CPFE), and non-specific-ILD. Lung involvement was confirmed in 31/268 pSS patients (13%). One-third (10/31) of pSS-ILD patients were Ro/SSA antibody negative. ILD at pSS diagnosis was present in 19/31 (61%) patients. The commonest phenotype was UIP n = 13 (43%), followed by NSIP n = 9 (29%), DIP n = 2 (6 %), CPFE n = 2 (6 %), and non-specific-ILD n = 5 (16%). Forced vital capacity (FVC) and carbon monoxide diffusion capacity (DLCO) appeared lower in UIP and DIP, without reaching a significant difference. Treatment focused universally on intensified immunosuppression, with 13/31 patients (42%) receiving cyclophosphamide. No anti-fibrotic treatments were used. Median follow-up was 38.2 [12.4-119.6] months. Lung involvement in pSS is heterogeneous. Better phenotyping and tailored treatment may improve outcomes and requires further evaluation in larger prospective studies.
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Project description:Amelogenesis imperfecta (AI) is a disease primarily affecting amelogenesis, but other various aberrations have been reported in association with this entity. Enamel-renal syndrome (ERS) is a very rare disorder associating AI with nephrocalcinosis. It is known by various synonyms such as AI nephrocalcinosis syndrome, MacGibbon syndrome, Lubinsky syndrome and Lubinsky-MacGibbon syndrome. The purposes of this article are to describe other dental anomalies which are rarely associated with AI making the diagnosis of AI a complex disorder and also to report a rare case of MacGibbon syndrome presented with sialolith of submandibular gland duct which is the first reported case in the literature.
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