TOOTH DISEASES
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BACKGROUND: Charcot-Marie-Tooth is the most common inherited neuromuscular disorder. Rarely, it can be associated with heart failure and various arrhythmic disturbances. This case illustrates the challenges of making decisions to prevent sudden cardiac death in a patient with Charcot-Marie-Tooth disease. CASE SUMMARY: A 69-year-old male with a history of Type 1A Charcot-Marie-Tooth disease was admitted due to repetitive runs of ventricular tachycardia. Twelve-lead electrocardiogram, echocardiography, selective coronary angiography, and cardiac magnetic resonance did not clarify the cause of the electrical storm. As conservative therapy was not successful, radiofrequency ablation was chosen to treat the electrical storm. After this procedure, implantable cardioverter defibrillator (ICD) was implanted. The follow-up revealed severe perforation by the ventricular lead. An extraction was performed with no complications and a new lead was immediately implanted. The patient remains asymptomatic. Three episodes of non-sustained ventricular tachycardia were recorded during the last follow-up. DISCUSSION: This case illustrates the challenges of making decisions to prevent sudden cardiac death in a patient with Charcot-Marie-Tooth disease after successful ablation for electrical storm. Due to a lack of evidence, atypical origin of arrhythmia, and clinical presentation, we did not consider this as idiopathic arrhythmia and decided to implant an ICD, which was complicated by severe perforation by the lead. Specific recommendations for preventing sudden cardiac death in rare cardiac conditions, such as Charcot-Marie-Tooth disease, still need to be refined.
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
Pronator teres syndrome is characterized by compression of the median nerve, leading to dysfunction of the affected limb. Median nerve entrapment causes paresthesia, changes in sensitivity, and loss of strength in the fingers, in addition to causing loss of hand dexterity. The diagnosis of pronator teres syndrome is complicated, due to its similarity with other neuropathies of the median nerve. So, it is important to emphasize the need for a physical examination together with imaging tests, especially ultrasound, for its correct diagnosis. We report the case of a 28-year-old woman who complained of tingling for ten years in the proximal third of the left forearm at rest that worsens on exertion and weakness if not moving. On physical examination, she has no limitation of movement but refers to a feeling of weakness and numbness in his forearm. Ultrasonography demonstrates compression of the median nerve between the ulnar and humeral heads of the pronator teres muscle, a finding confirmed by magnetic resonance imaging and electroneuromyography. The patient was treated with physiotherapy presenting improvement of symptoms after 45 days.
- MeSH
- artrogrypóza MeSH
- dospělí MeSH
- elektromyografie metody MeSH
- hereditární motorické a senzitivní neuropatie MeSH
- lidé MeSH
- magnetická rezonanční tomografie * metody MeSH
- neuropatie nervus medianus diagnóza MeSH
- předloktí MeSH
- ultrasonografie metody MeSH
- úžinové syndromy diagnóza patofyziologie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
BACKGROUND AND OBJECTIVES: Gingivitis and periodontitis are common periodontal diseases that can significantly harm overall oral health, affecting the teeth and their supporting tissues, along with the surrounding anatomical structures, and if left untreated, leading to the total destruction of the alveolar bone and the connective tissues, tooth loss, and other more serious systemic health issues. Numerous studies have shown that propolis can help reduce gum inflammation, inhibit the growth of pathogenic bacteria, and promote tissue regeneration, but with varying degrees of success reported. For this reason, this comprehensive systematic review aims at finding out the truth concerning the efficacy of propolis mouthwashes in treating gingivitis and periodontitis, as its main objective. DATA SOURCES: Research findings from 6 different databases: China National Knowledge Infrastructure (CNKI), PubMed®, Europe PMC, Cochrane Central Register of Controlled Trials (CENTRAL), BioMed Central, and Google Scholar, were retrieved and examined in addition to a manual search in the references lists. STUDY SELECTION AND SYNTHESIS: The PICOS framework was used to select and exclude studies. The focus was on clinical randomized controlled trials (RCTs) that examined the effectiveness of propolis-containing mouthwashes in comparison with propolis-free ones for the treatment of gingivitis and periodontitis, employing related periodontal indices. Animal studies, microbiological studies, in-vitro studies, retrospective studies, case-control studies, cohorts, case reports, case series, reviews, letters, editorials, meta-analyses, and non-clinical randomized controlled trials (non-RCTs), all were excluded. A meta-analysis was not performed and data were only studied qualitatively due to the obvious heterogeneity amongst the studies. Data from the selected studies were extracted, and then the revised Cochrane's risk of bias tool (RoB 2.0) was utilised by two of the authors, independently, to evaluate the risk of bias in each study. RESULTS: At first, 151 results were reached, but then after removing duplicates, 99 records remained, and were later screened, assessed, and studied in full details based on the set PICOS criteria. Out of these 99 articles, ten studies were included in this systematic review, encompassing a total of 453 patients with an age range of (13-70) years old. Propolis mouthwashes with different protocols of application were the intervention whereas placebo or the rest of the tested mouthwashes such as, chlorhexidine, sodium fluoride with cetylpyridinium chloride, sterile distilled water, hydrogen peroxide, were the ones to which propolis mouthwashes were compared. Treatment duration extended from 14 days to 3 months and the follow-up period differed from 14 days to 3 months. In general, propolis mouthwashes decreased plaque accumulations and gingival inflammation in gingivitis patients based on the employed indices. On the other hand, the aforementioned tested mouthwashes other than propolis were deemed equally effective or even superior to propolis in some studies. As an overall assessment for the risk of bias, four studies were assigned as having a low risk of bias. Two studies were deemed to have some concerns, while four studies were identified as having a high risk of bias. CONCLUSIONS: Despite the fact that propolis has shown positive effects in terms of controlling gingival and periodontal inflammation especially when used with mechanical methods, studies lack certainty and their power of evidence is low with no agreed gold standards. These conclusions come, for sure, within the limitations of this review, like having substantial variability amongst the included studies and the presence of studies with a high risk of bias. The findings demonstrate that propolis-based mouthwashes showed promising clinical outcomes in reducing plaque and gingival inflammation. However, it is highly recommended to conduct more rigorous trials with patient-reported outcome measures, extended follow-up periods, larger samples sizes, better-designed methodologies, typified propolis use, and with the implementation of similar indices in order to obtain more reliable, conclusive, and generalisable results. PROSPERO REGISTRATION NUMBER: CRD42024524523.
- Publikační typ
- časopisecké články MeSH
Získaná hemofilie A (AHA) je vzácné krvácivé onemocnění vyskytující se především ve vyšším věku. Je způsobená přítomností autoprotilátek proti koagulačnímu faktoru VIII (FVIII). Může být asociována s autoimunitním onemocněním, malignitou či po porodu nebo vzniká idiopaticky. Důležitá je včasná diagnóza a léčba, která spočívá v léčbě krvácení a imunosupresivní léčbě k navození remise onemocnění čili k eradikaci inhibitoru. Zmiňujeme případ pacientky s revmatoidní artritidou s krvácivými projevy z gastrointestinálního traktu (GIT), kožními sufuzemi a protrahovaným krvácením po extrakci zubu. U pacientky byla diagnostikována AHA a bylo nutné zahájit léčbu rekombinantním aktivovaným faktorem VII (rFVIIa). Vstupně zjištěn vysoký inhibitor, který po léčbě kombinované imunosuprese (kortikoidy, cyklofosfamid, rituximab) klesal velice pomalu. Pro nově zjištěné krvácení do musculus psoas byla navýšena substituce rFVIIa a byl indikován emicizumab, k prevenci dalšího krvácení u pacientky s přetrvávajícím inhibitorem. Díky jeho s. c. aplikaci mohla být pacientka propuštěna do ambulantní péče.
Acquired haemophilia A (AHA) is a rare bleeding disorder occurring particularly in the elderly. It is caused by the presence of autoantibodies against coagulation factor VIII (FVIII). It may be associated with an autoimmune disease, malignancy, occur after birth, or arise idiopathically. Early diagnosis and treatment are important, which involves treatment of bleeding and immunosuppressive therapy to induce disease remission or eradicate the inhibitor. We report a case of a female patient with rheumatoid arthritis with bleeding manifestations from the gastrointestinal tract (GIT), skin suffusions, and prolonged bleeding after tooth extraction. The patient was diagnosed with AHA and had to be started on treatment with recombinant activated factor VII (rFVIIa). Initially, a high inhibitor level was found that decreased very slowly after treatment with combined immunosuppression (corticoids, cyclophosphamide, rituximab). Due to newly detected bleeding into the psoas muscle, rFVIIa replacement therapy was increased and emicizumab was indicated to prevent further bleeding in the patient with persistent inhibitor. Thanks to the subcutaneous route of administration, the patient could be discharged to outpatient care.
- Klíčová slova
- emicizumab,
- MeSH
- faktor VIII aplikace a dávkování terapeutické užití MeSH
- hemofilie A * etiologie farmakoterapie komplikace MeSH
- humanizované monoklonální protilátky aplikace a dávkování terapeutické užití MeSH
- imunosupresivní léčba metody MeSH
- krvácení etiologie terapie MeSH
- lidé MeSH
- protilátky bispecifické aplikace a dávkování terapeutické užití MeSH
- senioři MeSH
- Check Tag
- lidé MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
BACKGROUND: The oculo-facio-cardio-dental syndrome (OFCD) is an ultra-rare multiple congenital anomaly. This report describes clinical findings emphasising dental phenotype in five, molecularly confirmed, female cases from two Czech families. CASE PRESENTATION: Dental examinations were carried out. An orthopantomogram was taken in three patients, and all patients' intraoral cavities and teeth were photographed. Exome sequencing was performed in both probands. Results were validated by Sanger DNA sequencing which was also used to follow segregation of the variants in first-degree relatives. Dental abnormalities and congenital cataracts were present in all five cases, whilst other signs were variable and included facial dysmorphism, microphthalmia, and cardiac and skeletal abnormalities. Two individuals had cleft lip and/or cleft palate. Radiculomegaly occurred in three patients with permanent teeth and was diagnosed on orthopantomograms. Two patients had agenesis of permanent teeth. Malocclusion was also present in two patients due to crowding and a Class III malocclusion and mandibular overjet. De novo novel pathogenic variants in the BCOR gene were identified; c.2382del p.(Lys795Argfs*12) and c.3914dup p.(Gln1306Alafs*20) and co-segregated with the disease in each family. CONCLUSIONS: The OFCD syndrome has a unique dental phenotype and dentists should be aware of signs of this ultra-rare genetic disorder. All patients with congenital cataracts and dental abnormalities, including those without a family history, should be referred for genetic testing and indicated to specialised dental care.
- MeSH
- abnormality očí genetika MeSH
- abnormality zubů * genetika MeSH
- defekty srdečního septa MeSH
- dítě MeSH
- dospělí MeSH
- fenotyp MeSH
- genetické nemoci vázané na chromozom X MeSH
- katarakta genetika vrozené MeSH
- lidé MeSH
- mikroftalmie * genetika MeSH
- mladiství MeSH
- mnohočetné abnormality genetika MeSH
- protoonkogenní proteiny * genetika MeSH
- rentgendiagnostika panoramatická MeSH
- represorové proteiny * genetika MeSH
- rodokmen MeSH
- vrozené srdeční vady genetika komplikace MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- mladiství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Geografické názvy
- Česká republika MeSH
- MeSH
- globus pallidus MeSH
- lidé MeSH
- paraplegie diagnóza MeSH
- spastická paraplegie dědičná * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- dopisy MeSH
The transient receptor potential canonical (TRPC) channels are a group of highly homologous nonselective cation channels from the larger TRP channel family. They have the ability to form homo- and heteromers with varying degrees of calcium (Ca2+) permeability and signalling properties. TRPC5 is the one cold-sensitive among them and likewise facilitates the influx of extracellular Ca2+ into cells to modulate neuronal depolarization and integrate various intracellular signalling pathways. Recent research with cryo-electron microscopy revealed its structure, along with clear insight into downstream signalling and protein-protein interaction sites. Investigations using global and conditional deficient mice revealed the involvement of TRPC5 in metabolic diseases, energy balance, thermosensation and conditions such as osteoarthritis, rheumatoid arthritis, and inflammatory pain including opioid-induced hyperalgesia and hyperalgesia following tooth decay and pulpitis. This review provides an update on recent advances in our understanding of the role of TRPC5 with focus on metabolic diseases and pain.
- MeSH
- bolest * farmakoterapie metabolismus MeSH
- kationtové kanály TRPC * metabolismus MeSH
- lidé MeSH
- metabolické nemoci * farmakoterapie metabolismus MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited peripheral neuropathy caused by a 1.5 Mb tandem duplication of chromosome 17 harbouring the PMP22 gene. This dose-dependent overexpression of PMP22 results in disrupted Schwann cell myelination of peripheral nerves. To obtain better insights into the underlying pathogenic mechanisms in CMT1A, we investigated the role of PMP22 duplication in cellular homeostasis in CMT1A mouse models and in patient-derived induced pluripotent stem cells differentiated into Schwann cell precursors (iPSC-SCPs). We performed lipidomic profiling and bulk RNA sequencing (RNA-seq) on sciatic nerves of two developing CMT1A mouse models and on CMT1A patient-derived iPSC-SCPs. For the sciatic nerves of the CMT1A mice, cholesterol and lipid metabolism was downregulated in a dose-dependent manner throughout development. For the CMT1A iPSC-SCPs, transcriptional analysis unveiled a strong suppression of genes related to autophagy and lipid metabolism. Gene ontology enrichment analysis identified disturbances in pathways related to plasma membrane components and cell receptor signalling. Lipidomic analysis confirmed the severe dysregulation in plasma membrane lipids, particularly sphingolipids, in CMT1A iPSC-SCPs. Furthermore, we identified reduced lipid raft dynamics, disturbed plasma membrane fluidity and impaired cholesterol incorporation and storage, all of which could result from altered lipid storage homeostasis in the patient-derived CMT1A iPSC-SCPs. Importantly, this phenotype could be rescued by stimulating autophagy and lipolysis. We conclude that PMP22 duplication disturbs intracellular lipid storage and leads to a more disordered plasma membrane owing to an alteration in the lipid composition, which might ultimately lead to impaired axo-glial interactions. Moreover, targeting lipid handling and metabolism could hold promise for the treatment of patients with CMT1A.
- MeSH
- buněčná membrána * metabolismus MeSH
- Charcotova-Marieova-Toothova nemoc * genetika metabolismus patologie MeSH
- duplikace genu MeSH
- homeostáza * fyziologie MeSH
- indukované pluripotentní kmenové buňky * metabolismus MeSH
- lidé MeSH
- metabolismus lipidů * fyziologie MeSH
- myelinové proteiny * metabolismus genetika MeSH
- myši MeSH
- nervus ischiadicus metabolismus MeSH
- Schwannovy buňky * metabolismus MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- myši MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
