RESUMO
Parsonage---Turner syndrome (PTS; neuralgic amyotrophy) is a generally unilateral neuritis with sudden onset, severe shoulder or upper arm pain. Although the intense pain is usually self-limiting, two-thirds of patients experience pro-gressive motor weakness, narrowed range of motion, reflex changes, dysesthesias and chronic neuropathic pain in the shoulder girdle musculature and proximal upper limb muscles. The aetiology is unclear, in addition to some idiopath-ic cases the most common triggers of PTS are surgery, trauma, infection or vaccination. It is reported after SARS-CoV-2 infection, and unilateral PTS has been described in some cases following different types of COVID-19 vaccines. We are currently presenting the case of a middle-aged woman who developed partial neuralgic amyotrophy on the right shoulder one month after receiving the second dose of the BNT162b2 COVID-19 mRNA vaccine (Pfizer-BioNTech), and seven months later the symptoms appeared in the contralateral upper limb. The diagnosis of PTS was also confirmed by magnetic resonance and electrodiagnostic examination. The PTS is not an uncommon condi-tion, but in the absence of knowledge it is rarely thought of. The purpose of this report is to draw attention to the possibility of PTS in shoulder or upper arm pain following both SARS-CoV-2 infection and COVID-19 vaccination, as early diagnosis and adequate therapy may help to shorten the course of the disease.
Assuntos
Neurite do Plexo Braquial , COVID-19 , Vacina BNT162 , Neurite do Plexo Braquial/diagnóstico , Neurite do Plexo Braquial/tratamento farmacológico , Neurite do Plexo Braquial/etiologia , COVID-19/complicações , Vacinas contra COVID-19 , Feminino , Humanos , Pessoa de Meia-Idade , Dor , SARS-CoV-2 , Vacinas Sintéticas , Vacinas de mRNARESUMO
Összefoglaló. A Nemzetközi Diabetes Szövetség (International Diabetes Federation, IDF) legutóbbi becslése szerint napjainkban több mint 600 000, 15 év alatti 1-es típusú cukorbeteg gyermek él a világon, az új esetek száma pedig évi 98 200-ra teheto. Az elmúlt évtizedekben az 1-es típusú diabetes incidenciája világszerte jelentosen nott ebben a korosztályban: Európában az 1989 és 2013 közötti periódusban átlagosan évi 3,4%-kal, ami 20 éven belül a betegek számának duplázódását vetíti elore a kontinensen. Az epidemiológiai vizsgálatok kezdete óta nyilvánvaló, hogy a gyermekkori kezdetu, 1-es típusú diabetes elofordulási gyakorisága széles határok között ingadozik, amit egyaránt befolyásolnak geográfiai és klímaviszonyok, etnikai és demográfiai hatások. Bár az 1-es típusú cukorbetegség kialakulása során az autoimmunitás primer kockázati tényezoje a genetikai háttér, mégsem a genetikai terheltség populációszintu fokozódása okozza az incidencia robbanásszeru növekedését, hanem a környezeti tényezoknek a betegség penetranciáját megváltoztató hatása. A környezeti hatások oki tényezokként, akcelerátorokként és védofaktorokként is hozzájárulhatnak mindehhez, sot akár a betegség patogenezisében egyszerre több ponton, több mechanizmussal is részt vehetnek. Ugyanakkor a nemzetközi kutatások ellenére a legnépszerubb háttérelméletek (például vírusinfekció, higiéniahipotézis, bélmikrobiom, átereszto bél, D-vitamin-hiány) máig nem szolgálnak kielégíto magyarázattal az epidemiológiai észlelések többségére (például földrajzi régiónként jelentosen eltéro incidenciaértékek, geográfiai "forrópontok", az új esetek megjelenésének szezonális ingadozása, az incidenciacsúcsok ciklicitása). Összefoglalónk célja a gyermekkori 1-es típusú diabetes epidemiológiájára vonatkozó aktuális adatok és háttérelméletek áttekintése. Orv Hetil. 2021; 162(1): 13-22. Summary. According to the latest report of the IDF (International Diabetes Federation), more than 600 000 children under the age of 15 years are living with type 1 diabetes in the world and the number of new cases is estimated to be 98 200 annually. In recent decades, a significant increase in the incidence has been observed globally: during 1989-2013, the annual rate of increase was 3.4% in Europe, suggesting a doubling in the number of patients within approximately 20 years on the continent. The wide variation in incidence has been well documented by epidemiological studies and influenced by geographical and climatic conditions, ethnic and demographic factors. Although the genetic background is the primary risk factor for beta-cell autoimmunity, such dynamic changes in incidence are more likely to be associated with the higher environmental pressure than the increase in genetic load at population level. Environmental factors can also contribute to the pathogenesis of type 1 diabetes as accelerators, causal or protective factors, moreover may even be involved at several points and with several mechanisms at the same time. However, despite the extensive international research on environmental factors, the most popular hypotheses associated with them (e.g., virus infections, hygiene hypothesis, intestinal microbiota, leaky gut, lack of vitamin D) have not yet provided a satisfactory explanation for most epidemiological observations (e.g., geographically significant variability of incidence rates, geographical "hotspots", seasonal fluctuations in new cases, cyclical trends of incidence peaks). In this article, recent data and hypotheses about the epidemiology of childhood type 1 diabetes are summarized. Orv Hetil. 2021; 162(1): 13-22.
Assuntos
Diabetes Mellitus Tipo 1/epidemiologia , Exposição Ambiental , Determinantes Sociais da Saúde , Criança , Europa (Continente)/epidemiologia , Humanos , Incidência , Fatores de RiscoRESUMO
Over the past decades the majority of genetic research focused on common diseases, and remarkable results were obtained for exploring the genetic background of type 1 diabetes. The classic linkage analyses and the modern genome-wide association studies demonstrated that the genetic background is the primary risk factor for beta-cell autoimmunity while the progression to clinical onset could be triggered by the genetic factors, epigenetic modifications of gene expression and environmental factors together. The new system biology concept can help to understand the mechanisms underlying the immune-mediated beta-cell destruction by generating networks based on data from whole genome scans, fine mapping and gene expression studies to develop targeted prevention and therapeutic strategies. In this paper, we discuss the present understanding of genetic factors which could initiate beta-cell autoimmunity (i.e. define the aetiology) and the genetic and epigenetic factors which might contribute to the progression to clinical disease in individuals with autoantibodies (i.e. define the pathogenesis). Orv Hetil. 2017; 158(44): 1731-1740.
Assuntos
Diabetes Mellitus Tipo 1/genética , Predisposição Genética para Doença , Regulação da Expressão Gênica , HumanosRESUMO
The aim of this study was to conduct a national survey to evaluate the recent endoscopic treatment and drug therapy of peptic ulcer bleeding (PUB) patients and to compare practices in high and low case volume Hungarian workplaces. A total of 62 gastroenterology units participated in the six-month study. A total of 3033 PUB cases and a mean of 8.15 ± 3.9 PUB cases per month per unit were reported. In the 23 high case volume units (HCV), there was a mean of 12.9 ± 5.4 PUB cases/month, whereas in the 39 low case volume units (LCV), a mean of 5.3 ± 2.9 PUB cases/month were treated during the study period. In HCV units, endoscopic therapies for Forrest Ia, Ib, and IIa ulcers were significantly more often used than in LCV units (86% versus 68%; P = 0.001). Among patients with stigmata of recent haemorrhage (Forrest I, II), bolus + continuous infusion PPI was given significantly more frequently in HCV than in LCV units (49.6% versus 33.2%; P = 0.001). Mortality in HCV units was less than in LCV units (2.7% versus 4.3%; P = 0.023). The penetration of evidence-based recommendations for PUB management is stronger in HCV units resulting lower mortality.
RESUMO
Autoimmune diseases are initiated by interaction between genetic and environmental factors and caused by the loss of immunologic tolerance to self-antigens. They cluster within families and individuals, but the aggregation in a triad is quite rare. We report a case of a young girl affected by three organ-specific autoimmune disorders, from which type 1 diabetes developed first, then Hashimoto's thyroiditis and juvenile rheumatoid arthritis were diagnosed. Hitherto unreported detailed genetic studies included genotyping of HLA class II, CTLA4, and PTPN22 gene regions. These genes have been associated with autoimmunity in general and some of their variants confer increased risk to all three diseases. Our results - with the limitation of reporting only on a single patient - contribute to the complex genetic background of these clustering organ-specific autoimmune diseases and the analysis of further similar cases might help to reveal how the major and minor genetic factors determine the individual clinical phenotype.
