Результаты поиска

Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease.

Current knowledge of the haematological and onco-haematological complications of type 1 Gaucher disease has been reviewed with the aim of identifying best clinical practice for treatment and disease management. It was concluded that: (i) Awareness of typical patterns of cytopenia can help clinicians distinguish haematological co-morbidities. (ii) Red blood cell studies and complete iron metabolism evaluation at baseline are recommended. (iii) Haemoglobin levels defining anaemia should be raised and used in Gaucher disease treatment and monitoring. (iv) Surgeons should be aware of potential ble

Совпадение в полном тексте источника
… Specific inherited coagulation factor deficiencies exist among certain ethnic groups, for example, factor XI deficiency amongst Ashkenazi Jews ( Seligsohn & Modan, 1981 ), a group that also demonstrates increased incidence of Gaucher disease ( Cox & Schofield, 1997 ). … 10.1006/bcmd.2002.0517 12064924 Scullin DC Jr Shelburne JD Cohen HJ Pseudo-Gaucher cells in multiple myeloma American Journal of Medicine 1979 67 347 352 10.1016/0002-9343(79)90413-3 380339 Seligsohn U Modan M Definition of the population at risk of bleeding due to factor XI deficiency in Ashkenazic Jews …

Аутоиммунные заболевания эфиопского и неэфиопского типа 1 Пациенты диабета в Израиле.

Распространение аутоиммунных заболеваний (АИД) у эфиопских пациентов различного типа 1 диабет (T1D) в основном неизвестен. Цель этого исследования состояла в том, чтобы выявить случаи совместного применения АИД у эфиопских пациентов Т1D и сравнить их распространенность с неэфиопскими израильскими пациентами. Ретроспективный когортный анализ 12,759 Т1D пациентов, в том числе 672 (В тыс.5.3%) лиц эфиопского происхождения, ≥ 18 Годы, зарегистрированные в базе данных медицинского обслуживания Клалита. Случаи насилия в отношении женщин были выявлены ICD-10 коды от 2000 в адрес 2023. Кроме того, был

Совпадение в полном тексте источника
… Autoimmune disease development stratified according to country of birth By country of birth, the majority of Ethiopian Jews were immigrants born in Ethiopia ( n  = 421, 63%), and the rest were born in Israel ( n  = 251, 37%); most of the latter were first-generation Ethiopian immigrants. …

Use of Oral Antivirals Ritonavir-Nirmatrelvir and Molnupiravir in Patients with Multiple Myeloma Is Associated with Low Rates of Severe COVID-19: A Single-Center, Prospective Study.

In patients with multiple myeloma (MM), SARS-CoV-2 infection has been associated with a severe clinical course and high mortality rates due to the concomitant disease- and treatment-related immunosuppression. Specific antiviral treatment involves viral replication control with monoclonal antibodies and antivirals, including molnupiravir and the ritonavir-boosted nirmatrelvir. This prospective study investigated the effect of these two agents on SARS-CoV-2 infection severity and mortality in patients with MM. Patients received either ritonavir-nirmatrelvir or molnupiravir. Baseline demographic

Pemphigus vulgaris.

Pemphigus vulgaris is a chronic autoimmune bullous dermatosis that results from the production of autoantibodies against desmogleins 1 and 3. It is the most frequent and most severe form of pemphigus, occurring universally, usually between 40 and 60 years of age. It usually begins with blisters and erosions on the oral mucosa, followed by lesions on other mucous membranes and flaccid blisters on the skin, which can be disseminated. There is a clinical variant, pemphigus vegetans, which is characterized by the presence of vegetating lesions in the large folds of the skin. Clinical suspicion can

Совпадение в полном тексте источника
… Its incidence ranges from 0.76 new cases per million/year in Finland and 3.5 new cases per million/year in Japan to 16.1 cases per million/year in Jerusalem - worldwide, the incidence of this disease is highest in Ashkenazi Jews of Mediterranean origin. 8 In most countries, PV is more frequent than PF … It is known that there is a genetic predisposition determined by human leukocyte antigen (HLA); HLA-DRB1*04 and HLA-A*10 are more frequent in Ashkenazi Jews with pemphigus. …

Glanzmann's thrombasthenia: pathogenesis, diagnosis, and current and emerging treatment options.

Glanzmann's thrombasthenia (GT) is a genetic platelet surface receptor disorder of GPIIb/IIIa (ITG αIIbβ3), either qualitative or quantitative, which results in faulty platelet aggregation and diminished clot retraction. Spontaneous mucocutaneous bleeding is common and can lead to fatal bleeding episodes. Control and prevention of bleeding among patients with GT is imperative, and remains challenging. Local measures, including anti-fibrinolytic therapy, with or without platelet transfusions, used to be the mainstay of therapy. However, in recent years the use of recombinant factor VIIa (rFVIIa

Совпадение в полном тексте источника
… exact number is unknown. 14 Studies have shown a slight predominance in women compared to men (58% versus 42%), consistent with its mode of inheritance. 7 GT can be found in individuals across the globe, but is more common in ethnic groups that display higher incidences of consanguinity, such as Iraqi Jews …

What should rheumatologists know about Gaucher disease and Fabry disease? Connecting the dots for an overview.

Gaucher and Fabry diseases are lysosomal storage disorders in which deficient enzyme activity leads to pathological accumulation of sphingolipids. These diseases have a broad phenotypic presentation. Musculoskeletal symptoms and pain complaints are frequently reported by patients. Thus, rheumatologists can be contacted by these patients, contributing to the correct diagnosis, earlier indication of appropriate treatment and improvement of their prognosis. This review describes important concepts about Gaucher and Fabry diseases that rheumatologists should understand to improve patients' quality

Совпадение в полном тексте источника
… GD type 1 (GD1) accounts for more than 90% of all GD cases; it has a much higher prevalence in Ashkenazi Jews (118 per 100,000) than in non-Jewish populations (1–2 per 100,000) [ 16 , 18 , 19 ]. …

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies.

A biomarker is an analyte indicating the presence of a biological process linked to the clinical manifestations and outcome of a particular disease. In the case of lysosomal storage disorders (LSDs), primary and secondary accumulating metabolites or proteins specifically secreted by storage cells are good candidates for biomarkers. Clinical applications of biomarkers are found in improved diagnosis, monitoring disease progression, and assessing therapeutic correction. These are illustrated by reviewing the discovery and use of biomarkers for Gaucher disease and Fabry disease. In addition, rece

Совпадение в полном тексте источника
… It is prevalent among Ashkenazi Jews, with a carrier frequency as high as about 1 in 15 and an incidence of about 1 in 1,000. The most common mutation in the glucocerebrosidase gene of Caucasians, including Ashkenazi Jews, encodes the amino acid substitution N370S. …

Virtual reality and hypnosis for symptom alleviation before bone marrow procedure.

Bone marrow aspiration biopsy (BMAB) commonly causes anxiety in patients, negatively affecting their overall procedural experience. We aimed to evaluate the efficacy of hypnosis and virtual reality (VR) compared to standard-of-care in improving concerns of patients undergoing BMAB. In this exploratory open-label randomized-controlled trial, adult patients undergoing BMAB were randomly assigned to hypnosis, VR, or control. Interventions included a 7-minute prerecorded hypnosis session or immersive VR experience immediately prior to the procedure. Patient concerns were measured using the Measure

Management of patients with multiple myeloma and COVID-19 in the post pandemic era: a consensus paper from the European Myeloma Network (EMN).

In the post-pandemic COVID-19 period, human activities have returned to normal and COVID-19 cases are usually mild. However, patients with multiple myeloma (MM) present an increased risk for breakthrough infections and severe COVID-19 outcomes, including hospitalization and death. The European Myeloma Network has provided an expert consensus to guide patient management in this era. Vaccination with variant-specific booster vaccines, such as the bivalent vaccine for the ancestral Wuhan strain and the Omicron BA.4/5 strains, is essential as novel strains emerge and become dominant in the communi

Obstacles to Early Diagnosis of Gaucher Disease.

Gaucher disease (GD) is a rare lysosomal storage disorder resulting from a deficiency of the lysosomal enzyme glucocerebrosidase caused by biallelic variants in the GBA1 gene. Patients may present with a wide spectrum of disease manifestations, including hepatosplenomegaly, thrombocytopenia, bone manifestations, and in the case of GD types 2 and 3, neurodegeneration, cognitive delay, and/or oculomotor abnormalities. While there is no treatment for neuronopathic GD, non-neuronopathic manifestations can be efficiently managed with enzyme replacement therapy or substrate reduction therapy. Howeve

Совпадение в полном тексте источника
… Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson’s disease . Eur J Med Genet . 2019 ; 62 ( 1 ): 65 – 69 . doi: 10.1016/j.ejmg.2018.05.005 29842932 PMC6261782 16. Gorostidi A , Marti-Masso JF , Bergareche A , Rodriguez-Oroz MC , Lopez de Munain A , Ruiz-Martinez J . …

Совокупное и интерактивное воздействие тяжелых металлов на нейродегенеративные заболевания: сравнительный обзор болезни Альцгеймера, Паркинсона, амиотропического бокового склероза и множественного склероза.

Тяжелые металлы и металллоиды являются стойкими загрязнителями окружающей среды, которые накапливаются в центральной нервной системе и взаимодействуют с местными основными металлами, однако в большинстве нейротоксических исследований металлы по-прежнему рассматриваются как независимые агенты, а не как смешанные смеси. В настоящем обзоре систематически сопоставляются данные о совокупном и интерактивном воздействии смесей тяжелых металлов на четыре основных нейродегенеративных заболевания: болезнь Альцгеймера (AD), болезнь Паркинсона (PD), амиотропический боковой склероз (ALS) и множественный ск

Exploring cellular diversity in lung adenocarcinoma epithelium: Advancing prognostic methods and immunotherapeutic strategies.

Immunotherapy has brought significant advancements in the treatment of lung adenocarcinoma (LUAD), but identifying suitable candidates remains challenging. In this study, we investigated tumour cell heterogeneity using extensive single-cell data and explored the impact of different tumour cell cluster abundances on immunotherapy in the POPLAR and OAK immunotherapy cohorts. Notably, we found a significant correlation between CKS1B+ tumour cell abundance and treatment response, as well as stemness potential. Leveraging marker genes from the CKS1B+ tumour cell cluster, we employed machine learnin

Использование машинного обучения с помощью краткого перечня симптомов для просмотра Comorbid Disabilities: A account of Principle Study.

ВВЕДЕНИЕ: Психические расстройства являются основными причинами заболеваемости во всем мире и часто связаны с потреблением психоактивных веществ и другими видами наркотического поведения. Однако многие лица, находящиеся в психиатрических учреждениях, не проходят проверку на наличие зависимости. Общие психопатологические меры, такие, как краткий список симптомов (BSI), могут дать ценное представление о риске наркомании. В этом исследовании рассматривается вопрос о том, могут ли модели машинного обучения использовать реакцию БСИ для прогнозирования проблемного потребления веществ (алкоголь, нарк

Совпадение в полном тексте источника
… Third, the survey was in Hebrew, but >90% of Jews in Israel are fluent in Hebrew [ 61 ]. Fourth, other biases may exist. Respondents might hesitate to report illegal or stigmatized behaviors; however, the confidential online format likely mitigated this concern [ 33 ]. …

Research in haematological cancers: What do patients in the Netherlands prioritise?

IntroductionThe experiential knowledge of patients can provide research communities with complementary perspectives on disease. The aim of this study was to identify and prioritise everyday problems and research needs of haematological cancer patients and people who have undergone a stem cell transplantation.MethodsA mixed-method participatory research approach (the Dialogue Model) was applied, including interviews (n = 19), four focus group discussions (n = 27), a questionnaire (n = 146) and a stakeholder dialogue meeting (n = 30) with patients in the Netherlands.ResultsPatients' physical dis

Характеристики увейта и множественный склероз фенотип пациентов с множественным склерозом, связанным с увеитом: систематический обзор и метаанализ.

Подведение итогов и мета-анализирование характеристик увеита и многократного склероза (MS) фенотипа пациентов с множественным склерозом, связанным с увеитом (MSAU), в рамках систематического обзора и метаанализа. 25, 2023, с использованием баз данных PubMed, Embase и Virtual Health Bibrary (VHL). Мы проводили исследования с участием пациентов в ССАУ, например, сериалы, 10 - пациенты, перекрестные исследования, анализ конкретных случаев и когортные исследования. Качество и риск отклонения оценивались с использованием инструментов CLARITY и проверенных параметров, таких, как инструменты Hoy et a

Совпадение в полном тексте источника
… Genetic contribution to multiple sclerosis risk among Ashkenazi Jews. BMC Med Genet. 2015;16: 55. doi: 10.1186/s12881-015-0201-2 65. Marrosu M. DRB1-DQA1-DQB1 loci and multiple sclerosis predisposition in the Sardinian population. …

The predictors of spiritual dryness among Iranian cancer patients during the COVID-19 pandemic.

BackgroundSpiritual struggles affect the wellbeing of religious people. Among them are strugglers with God which is perceived as non-responsive and distant. These perceptions were so far analyzed predominantly in Western societies with a Christian background, but not in Muslims from Iran. The aim of this study was to determine the predictors of spiritual dryness among cancer patients in Iran during the COVID-19 pandemic.MethodsCross-sectional study with standardized questionnaires (i.e., Spiritual Dryness Scale, WHO-5, BMLSS-10, Awe/Gratitude Scale) among 490 cancer patients (mean age 49.50 ±

Совпадение в полном тексте источника
… COVID-19, Mental Health, and Religious Coping among American Orthodox Jews. J. Relig. Health 59, 2288–2301. doi: 10.1007/s10943-020-01070-z, PMID: Pitman A., Suleman S., Hyde N., Hodgkiss A. (2018). Depression and anxiety in patients with cancer. …

Effectiveness, immunogenicity, and safety of COVID-19 vaccines for individuals with hematological malignancies: a systematic review.

The efficacy of SARS-CoV-2 vaccination in patients with hematological malignancies (HM) appears limited due to disease and treatment-associated immune impairment. We conducted a systematic review of prospective studies published from 10/12/2021 onwards in medical databases to assess clinical efficacy parameters, humoral and cellular immunogenicity and adverse events (AE) following two doses of COVID-19 approved vaccines. In 57 eligible studies reporting 7393 patients, clinical outcomes were rarely reported and rates of SARS-CoV-2 infection (range 0-11.9%), symptomatic disease (0-2.7%), hospita

Cancer status in the Occupied Palestinian Territories: types; incidence; mortality; sex, age, and geography distribution; and possible causes.

Cancer is a disease in which some cells of the body grow uncontrollably and occasionally spread to other parts of the body. With a group of more than 100 different types, cancer can start almost anywhere in the body. Defective cells may form a mass called a tumor which can be cancerous (malignant), which grows and spreads to other parts of the body, or benign that can grow but not spread throughout the body. In 2021, more than 10 million people died of cancer worldwide (1 out of 6 deaths). This paper has thoroughly investigated the cancer status in the Occupied Palestinian Territories (OPT), i

Парадокс ХЛА среди различных групп населения в процессе склероза: систематический обзор.

Множественный склероз (МС) свидетельствует о неоднородности курсов по болезням. Несмотря на то, что ХЛА ДРБ1*15::01 представляет собой самый сильный фактор генетического риска для MS-чувствительности, принося примерно в три раза больший риск, не влияет ли эта аллея на прогрессию заболеваний по-прежнему спорным образом. МЕТОДЫ: Этот систематический обзор был проведен с целью уточнения взаимосвязи между полиморфизмом ВЛА и ходом многочисленных склерозов с момента их создания до ноября 2025. A three- для учета ненезависимости статистических данных использовался метаанализ случайного воздействия н

Совпадение в полном тексте источника
… HLA class II susceptibility to multiple sclerosis among Ashkenazi and non-Ashkenazi Jews. Arch Neurol. 1999;56(5):555–60. 10.1001/archneur.56.5.555. 57. de la Concha EG, Arroyo R, Crusius JB, Campillo JA, Martin C, Varela de Seijas E, et al. …

Does childhood obesity foreshadow a future time-bomb of early and more aggressive cancers?

There has been a global explosion in the prevalence of childhood obesity with 20% of children worldwide now growing up with excess weight and, despite many calls for interventions to redress the costs to health and society, rates continue to rise. It has also recently been observed that there is a global trend with the incidence of early-onset cancers, diagnoses prior to age 50, increasing. We outline the different lines of evidence implicating that these two trends may be linked. Conclusive proof will only be obtained when longitudinal studies, initiated after the current surge in childhood o