Severe periodontal destruction in a patient with advanced anemia: A case report

Anemia is a worldwide health problem that manifests in different types. This illness has some causes, which affect body health generally. Studies have shown that some anemia types make humans more sensitive to infections

Characterization of greater middle eastern genetic variation for enhanced disease gene discovery

The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia1-3, has resulted in an elevated burden of recessive disease4. Here we generated a whole-exome GME variome from 1,111 unrelated subjects. We detected substantial diversity and admixture in continental and subregional populations, corresponding to several ancient founder populations with little evidence of bottlenecks. Measured consanguinity rates were an order of magnitude above those in other sampled populations, and the GME population exhibited an increased burden of runs of homozygosity (ROHs) but showed no evidence for reduced burden of deleterious variation due to classically theorized ‘genetic purging’. Applying this database to unsolved recessive conditions in the GME population reduced the number of potential disease-causing variants by four- to sevenfold. These results show variegated genetic architecture in GME populations and support future human genetic discoveries in Mendelian and population genetics

Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children

Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies of OAS1, OAS2, or RNASEL in five unrelated children with MIS-C. The cytosolic double-stranded RNA (dsRNA)-sensing OAS1 and OAS2 generate 2'-5'-linked oligoadenylates (2-5A) that activate the single-stranded RNA-degrading ribonuclease L (RNase L). Monocytic cell lines and primary myeloid cells with OAS1, OAS2, or RNase L deficiencies produce excessive amounts of inflammatory cytokines upon dsRNA or severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) stimulation. Exogenous 2-5A suppresses cytokine production in OAS1-deficient but not RNase L-deficient cells. Cytokine production in RNase L-deficient cells is impaired by MDA5 or RIG-I deficiency and abolished by mitochondrial antiviral-signaling protein (MAVS) deficiency. Recessive OAS-RNase L deficiencies in these patients unleash the production of SARS-CoV-2-triggered, MAVS-mediated inflammatory cytokines by mononuclear phagocytes, thereby underlying MIS-C

Autoantibodies against type I IFNs in patients with life-threatening COVID-19

Interindividual clinical variability in the course of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is vast. We report that at least 101 of 987 patients with life-threatening coronavirus disease 2019 (COVID-19) pneumonia had neutralizing immunoglobulin G (IgG) autoantibodies (auto-Abs) against interferon-w (IFN-w) (13 patients), against the 13 types of IFN-a (36), or against both (52) at the onset of critical disease; a few also had auto-Abs against the other three type I IFNs. The auto-Abs neutralize the ability of the corresponding type I IFNs to block SARS-CoV-2 infection in vitro. These auto-Abs were not found in 663 individuals with asymptomatic or mild SARS-CoV-2 infection and were present in only 4 of 1227 healthy individuals. Patients with auto-Abs were aged 25 to 87 years and 95 of the 101 were men. A B cell autoimmune phenocopy of inborn errors of type I IFN immunity accounts for life-threatening COVID-19 pneumonia in at least 2.6% of women and 12.5% of men

Primary Diagnosis of an Anaplastic Thyroid Carcinoma by the Dentist: Case Report

Za primarnu procjenu i vođenje slučaja u stomatološkim ordinacijama najvažnija je detaljna sustavna anamneza te ekstra/intraoralni pregled pacijenata s bilo kakvom cervikalnom i facijalnom patologijom. Taj je pristup ključan u inicijalnoj procjeni i zbrinjavanju bolesnika s nekoliko kliničkih stanja u cervikalnoj regiji koja se često mogu primarno dijagnosticirati kod stomatologa. Na taj se način sprječavaju nepotrebne terapijske intervencije u klinikama. U ovom prikazu opisujemo slučaj 85-godišnjakinje kojoj je u našoj klinici postavljena dijagnoza anaplastičnog karcinoma štitne žlijezde nakon inicijalne procjene zbog bola u srednjem dijelu mandibularne regije. Povijest bolesti bila je bez osobitosti, osim zabilježene hipertenzije. Tijekom temeljitoga intraoralnog pregleda nije uočena nikakva patologija koja bi objasnila bolove. Maksila je bila bezuba. Ekstraoralnim pregledom otkrivena je cervikalna asimetrija nastala zbog neprepoznate mase u lijevom lobusu štitnjače, zajedno s oteklinom lijevoga inferiornog cervikalnog limfnog čvora. Nije bila planirana nikakva stomatološka terapijska intervencija u ordinaciji. Nakon dijagnostičke obrade pacijentica je bila podvrgnuta operaciji totalne tiroidektomije, bez cervikalne disekcije. Histopatološkom diferencijacijom bio je potvrđen anaplastični karcinom štitnjače. Slučaj je zanimljiv zato što podsjeća na to koliko je važno imati detaljnu sustavnu anamnezu i obaviti ekstra-/intraoralni pregled tijekom inicijalne procjene pacijenata u stomatološkoj ordinaciji, što se ne bi smjelo zanemarivati ako se u klinikama žele izbjeći nepotrebne intervencije.A thorough/systematic medical history taking and extra-/intraoral examination is essential in the primary evaluation and in the management of the patients with any neck and facial pathology in the dental clinics. This approach is crucial in the initial evaluation and the management of the patients with several clinical conditions which may be frequently diagnosed primarily by the dentist in the neck and prevent unnecessary therapeutic interventions in the dental clinics. In this case report, an 85 years old female, who was primarily diagnosed with anaplastic carcinoma of the thyroid gland after initial evaluation for pain in the middle mandibular region in our dental clinic, was presented. Medical history was not specific except hypertension. In thorough intraoral examination no pathology was observed to explain the pain. Maxillary jaw was edentulous. In extra oral examination cervical asymmetry due to an unrecognized mass in the left thyroidal lobe with the enlargement of the left inferior cervical lymph nodes was noted. No dental therapeutic intervention was planned in the dental clinic. After diagnostic workup the patient was treated with total thyroidectomy without cervical dissection. Anaplastic thyroid carcinoma was confirmed with histopathological examination. This case was interesting to recall the importance of the thorough/systemic medical history taking and extra-/intraoral examination in the initial evaluation of the patients in the dental clinic, which should not be ignored to prevent unnecessary interventions in the dental clinics

Radiographic Detection of the Relationship between Tonsilloliths and Dental Plaque-Related Pathologies in a Series of Digital Panoramic Radiographs.

OBJECTIVE: The purpose of this study was to analyse the prevalence of tonsilloliths and to determine radiographically whether there is a relationship between tonsilloliths and dental plaque-related pathologies in a series of digital panoramic radiographs. MATERIALS AND METHODS: This retrospective study included digital panoramic radiographs of 859 patients admitted for routine dental examination. The panoramic images were examined for both the presence of tonsilloliths and the number of decayed, missing, restored teeth and apical periodontitis. Periodontal bone loss was also measured in thirds of optimal bone height according to the root length and a percentage of bone loss was obtained for each panoramic radiograph evaluated. RESULTS: Tonsilloliths were observed in 141 (16.4%) of all individuals. While there was no significant difference regarding the number of decayed teeth and restored teeth between tonsillolith cases (TT) and cases without tonsillolith (TC), the number of missing teeth and apical periodontitis in TT was significantly higher than TC (p: 0.004, p: 0.030, respectively). There was a significant difference between the groups in terms of the mean percentage of bone loss (p: 0.001; p < 0.05). In addition, cases showing bone loss between one-third and two-thirds of the optimal bone height in the TT group (52.5%) were significantly higher than those in TC (45.5%) (p: 0.035; p < 0.05). CONCLUSION: The relationship between dental plaque-related pathologies and tonsilloliths observed in this retrospective study should be confirmed by computed tomography studies and randomized, prospective, clinical trials conducted in a multidisciplinary manner