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Перспективное исследование иммуногенности SARS-CoV-2 :: вакцины для ускорителей в нескольких миеломах и в Уолденстрёме, макроглобулиномии.

Углубление риска сильного заболевания коронавирусом в результате аббревиатуры с множественной миеломой (ММ) и макроглобулиной Уолденстрёма (ВМ) 2019. Поврежденные юморальные реакции на серию первичных прививок от острого острого респираторных синдрома коронавируса 2 (В тыс.SARS-CoV-2) были зарегистрированы у пациентов с MM и WM, однако о воздействии экспресс-прививок и функциональном состоянии полученных антител неизвестно. Мы провели перспективное когортное исследование SARS-CoV-2 вакцинация пациентов MM (n = 93) и WM (n = 48). Главным конечным моментом было эффективное иммунное реагирование

Genes, Gene Loci и их влияние на иммунную систему развития множественных склерозов: систематический обзор.

Множественный склероз (MS) — это состояние, характеризующееся повреждением центральной нервной системы (CNS), которое вызывает у пациентов когнитивные и физические трудности. Хотя болезнь имеет сложную этиологию, которая включает генетические и экологические факторы, мало что известно о роли генов и генологов в ее развитии. Цели: Данное исследование было направлено на изучение воздействия генов и ген-лочи на иммунную систему в ходе разработки MS. Мы стремились определить основные гены и генные лочи, которые играют роль в патогенезе MS, и последствия для будущей разработки подходов к клиническо

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… Genetic contribution to multiple sclerosis risk among Ashkenazi Jews. BMC Med Genet. 2015;16:55. doi: 10.1186/s12881-015-0201-2. …

Gaucher disease: clinical profile and therapeutic developments.

Gaucher disease is a rare inborn error of glycosphingolipid metabolism due to deficiency of lysosomal acid β-glucocerebrosidase; the condition has totemic significance for the development of orphan drugs. A designer therapy, which harnesses the mannose receptor to complement the functional defect in macrophages, ameliorates the principal clinical manifestations in hematopoietic bone marrow and viscera. While several aspects of Gaucher disease (particularly those affecting the skeleton and brain) are refractory to treatment, enzyme (replacement) therapy has become a pharmaceutical blockbuster.

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… Frequency The birth frequency of Gaucher disease is ∼1:60,000 live births in the general population, 11 but genetic studies indicate a homozygote frequency of ∼1:950 Ashkenazi Jews, many of whom appear to remain asymptomatic. 12 In most countries, there is a marked discrepancy between the predicted …

Gaucher disease: the hematologist's perspective of a multisystemic disorder.

Gaucher disease (GD) exemplifies how a single genetic mutation can give rise to a complex multisystem disorder with profound hematological implications. Central to its pathophysiology is the lysosomal accumulation of glucosylceramide due to deficient glucocerebrosidase activity, together with abnormal folding and trafficking of the enzyme that induce endoplasmic reticulum stress and cellular dysfunction. These processes disrupt reticuloendothelial homeostasis and interfere with hematopoiesis. As a consequence, macrophage activation and chronic inflammation contribute to the cytopenias, splenom

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… Epidemiology 1.5/100.000 live births; 1:800 in Ashkenazi Jews ~ 1:250.000 live births ~ 2 /100.000 per year 0.1–0.3/100.000 per year 0.22–0.99/100.000 per year 0.5–2.92/100.000 per year Age at onset Variable: childhood to adulthood in GD1; earlier in GD2/3 Infancy (type A); childhood (type B) Any age … Epidemiology | 1.5/100.000 live births; 1:800 in Ashkenazi Jews | ~ 1:250.000 live births | ~ 2 /100.000 per year | 0.1–0.3/100.000 per year | 0.22–0.99/100.000 per year | 0.5–2.92/100.000 per year Age at onset | Variable: childhood to adulthood in GD1; earlier in GD2/3 | Infancy (type A); childhood …

The effect of the holy Quran recitation and listening on anxiety, stress, and depression: A scoping review on outcomes.

Background and aimAnxiety, stress, and depressive disorders as common mental health problems have adverse effects in different populations. Holy Quran recitation and listening can help reduce these disorders. Therefore, the aim of this study was to investigate the effect of the Holy Quran on anxiety, stress, and depression.Materials and methodsTo retrieve eligible studies, we searched PubMed, Web of Science, and Scopus databases. The articles were screened and chosen by three researchers. The selection of studies and the data extraction from the studies were done by three researchers using the

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… They killed our lord: the perception of jews as desecrators of christianity as a predictor of anti‐semitism. J Sci Study Relig. 2007;46(2):143‐158. 35. Perera CK, Pandey R, Srivastava AK. Role of religion and spirituality in stress management among nurses. …

Иммунотерапия при помощи модуляции кишечного микробиота в множестве склерозов и ассоциации с диетологической и клинической реакцией - эффект диметилфуматовой терапии.

СПРАВОЧНАЯ ИНФОРМАЦИЯ: Накопление данных подтверждает ту роль, которую микробиота играет в здравоохранении и болезнях, в том числе в многократном склерозе (МС). Как наркотики MS влияют на микробиоту и является ли это частью их способа действия, пока неизвестно. ЦЕЛИ: Оценка воздействия диметилфумарата (ДМП) на кишечник микробиота и того, связана ли микробиота с клинической реакцией или неблагоприятными явлениями (АЭ) с ДМФ или с диетой. DESIGN: когортное исследование наблюдений, в котором микробиота 45 больные с повторной эмиссией MS до начала работы DMF и после этого 6 месяцев психотерапии ДМ

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… However, there was a significant difference in ethnicity between the cohorts, with more Jews and less Arabs in the HC cohort ( p  = 0.028), yet this was irrelevant for the longitudinal study of PwMS, following DMF initiation. …

Poly(ADP-Ribose) Polymerase Inhibitors in Pancreatic Cancer: A New Treatment Paradigms and Future Implications.

Pancreatic ductal adenocarcinoma (PDAC) is an aggressive malignancy. Most of the patients of PDAC present at later stages of disease and have a five-year survival rate of less than 10%. About 5-10% PDAC cases are hereditary in nature and have DNA damage repair (DDR) mutations such as BRCA 1 and 2. Besides having implications on screening and prevention strategies, these mutations can confer sensitivity to platinum-based therapies and determine eligibility for poly(ADP-ribose) polymerase inhibitors (PARPi). In the presence of DDR mutations and PARPi, the cells are unable to utilize the error-fr

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… Different ethnicities have a different prevalence of these mutations (i.e., most Ashkenazi Jews have one of the three founder mutations in either BRCA1 185delAG or 5382insC or BRCA2 6174delT) [ 37 ]. …

The Diagnosis and Therapy of Osteoporosis in Gaucher Disease.

Gaucher disease is a rare lysosomal storage disorder characterized by the accumulation of glucocerebroside lipids within multiple organs due to a deficiency of the lysosomal enzyme (acid β-glucosidase). It is an inherited autosomal recessive disease. The onset of symptoms can vary depending on disease type and severity, with milder forms presenting in adulthood. The main clinical manifestations include cytopenia, splenomegaly, hepatomegaly, and bone lesions. GD is characterized by several bone manifestations, such as osteopenia/osteoporosis, focal lytic or sclerotic lesions, osteonecrosis acut

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… Prevalence estimates indicate a higher prevalence in populations or regions with known founder variants, such as Ashkenazi Jews [ 3 ]. …

Gaucher disease, state of the art and perspectives.

Knowledge about Gaucher disease (GD), considered a model for rare diseases, has considerably increased since its discovery. The pathophysiology of this lysosomal disorder is better known, and specific therapies that can control many aspects of the disease have been developed, particularly for the most common form, Type 1 GD. Yet, in part because of the rarity of GD, but also because of a lack of awareness by physicians, diagnostic delay too often leads to a belated management of patients having accumulated comorbidities. Gaucher cells, the most visible consequence of glucocerebrosidase deficie

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… Its incidence is about 1/136,000 in the general French population but may reach 1/800 births in the population of Ashkenazi Jews [ 3 ]. …

Efficacy and safety profile of COVID-19 mRNA vaccine in patients with hematological malignancies: Systematic review and meta-analysis.

Patient populations, including those with hematological malignancies, have different responses to COVID-19 vaccines. This study aimed to quantitatively analyze the efficacy and safety of COVID-19 mRNA vaccines in patients with hematological malignancies. Studies reporting on the efficacy and safety of COVID-19 mRNA vaccines in cohorts with hematological malignancies compared to healthy controls were systematically searched in four databases. Meta-analysis and subgroup analyses were performed to generate quantitative synthesis. Fifteen studies with 2,055 cohorts with hematological malignancies

Advances in the molecular characterization of multiple myeloma and mechanism of therapeutic resistance.

Recent insight in the genomic landscape of newly diagnosed multiple myeloma (NDMM) and its precursor conditions, monoclonal gammopathy of uncertain significance (MGUS), and smoldering myeloma have allowed the identification of patients with precursor conditions with a high risk of progression. These cases with "progressor" MGUS/SMM have a higher average mutation burden, have higher rates of mutations in specific genes such as MAPK, DNA repair, MYC, DIS3, and are enriched for specific mutational signatures when compared to non-progressors and are comparable to those found in NDMM. The highly pr

Gaucher Disease in Bone: From Pathophysiology to Practice.

Gaucher disease (GD) is a rare, genetic lysosomal disorder leading to lipid accumulation and dysfunction in multiple organs. Involvement of the skeleton is one of the most prevalent aspects of GD and a major cause of pain, disability, and reduced quality of life. Uniform recommendations for contemporary evaluation and management are needed. To develop practical clinical recommendations, an international group of experienced physicians conducted a comprehensive review of 20 years' of the literature, defining terms according to pathophysiological understanding and pointing out best practice and

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… This disease is found in all populations, but is overrepresented in Jews of Ashkenazi origin, in whom a single mutation (p.Asn409Ser, formerly called N370S) dominates. The enzyme deficiency in type 1 disease is typically incomplete, with up to 20% of normal activity remaining. …

The concept of exceptionality: a legal farce?

How do we decide which treatments should be offered by the National Health Service (NHS) when we cannot afford to fund them all? In the absence of a positive appraisal by the National Institute for Health and Clinical Excellence (NICE), which mandates the provision of a treatment by the NHS, Primary Care Trusts (PCTs) are free to decide whether to provide a particular drug to some, or all, of their population. However, as public bodies, it is a well-established principle of Administrative Law that PCTs are not at liberty to fetter the exercise of their own discretion. They must recognise the p

Biomarkers in Multiple Sclerosis: An Up-to-Date Overview

During the last decades, the effort of establishing satisfactory biomarkers for multiple sclerosis has been proven to be very difficult, due to the clinical and pathophysiological complexities of the disease. Recent knowledge acquired in the domains of genomics-immunogenetics and neuroimmunology, as well as the evolution in neuroimaging, has provided a whole new list of biomarkers. This variety, though, leads inevitably to confusion in the effort of decision making concerning strategic and individualized therapeutics. In this paper, our primary goal is to provide the reader with a list of the

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… HLA class II susceptibility to multiple sclerosis among Ashkenazi and non-Ashkenazi Jews. Archives of Neurology. 1999;56(5):555–560. doi: 10.1001/archneur.56.5.555. 22. Lincoln M, Ramagopalan S, Chao M, et al. …

Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises.

Different approaches have been utilized or proposed for the treatment of lysosomal storage disorders (LSDs) including enzyme replacement and hematopoietic stem cell transplant therapies, both aiming to compensate for the enzymatic loss of the underlying mutated lysosomal enzymes. However, these approaches have their own limitations and therefore the vast majority of LSDs are either still untreatable or their treatments are inadequate. Missense mutations affecting enzyme stability, folding and cellular trafficking are common in LSDs resulting often in low protein half-life, premature degradatio

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… LSDs incidence on the other hand is relatively high in genetically isolated communities such as the Ashkenazi Jews who showed a prevalence as high as 1 in 855 live births for Gaucher’s disease ( Vallance and Ford, 2003 ). …

Immunosuppressants/Immunomodulators and Malignancy.

Individuals with immunosuppressive conditions are at a higher risk of developing malignancies than those in the general population. Immunosuppression weakens tumor immunity, hinders the detection of pro-oncogenic cells, and activates oncogenic viruses. Malignancies arising in immunosuppressed patients tend to be aggressive, have a high incidence of virus-associated cancers, and are reversible in some cases. Notably, immunosuppressive agents influence the frequency and type of malignancies, as well as their clinicopathological features. Organ transplant recipients receive long-term immunosuppre

Haematological Diseases in the Tropics

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… Africans, African Americans, Yemenite Jews, Palestinians and Saudi Arabians generally have slightly lower neutrophil counts compared with other races. …

Chemotherapy-induced acute kidney injury: epidemiology, pathophysiology, and therapeutic approaches.

Despite significant advancements in oncology, conventional chemotherapy remains the primary treatment for diverse malignancies. Acute kidney injury (AKI) stands out as one of the most prevalent and severe adverse effects associated with these cytotoxic agents. While platinum compounds are well-known for their nephrotoxic potential, other drugs including antimetabolites, alkylating agents, and antitumor antibiotics are also associated. The onset of AKI poses substantial risks, including heightened morbidity and mortality rates, prolonged hospital stays, treatment interruptions, and the need for

KSHV and cancer: understanding the oncogenic machinery for next-generation diagnostic tools and therapies.

Kaposi's sarcoma-associated herpesvirus (KSHV), or human herpesvirus 8 (HHV-8), is an oncogenic virus responsible for Kaposi's sarcoma (KS) and lymphoproliferative disorders like primary effusion lymphoma (PEL) and multicentric Castleman disease (MCD). This review explores KSHV's oncogenic mechanisms, focusing on its ability to manipulate host cell signaling, evade immune detection, and promote tumorigenesis through latent and lytic viral proteins. Key oncoproteins, such as LANA, vCyc, vFLIP, and vGPCR, activate cancer hallmarks, as sustained proliferation, immune evasion, angiogenesis, and re

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… Virology V 597:110146. 10.1016/j.virol.2024.110146 Iscovich J, Boffetta P, Winkelmann R, Brennan P, Azizi E (1998) Classic kaposi’s sarcoma in Jews living in Israel, 1961–1989: a population-based incidence study. …

P-Glycoprotein as a Therapeutic Target in Hematological Malignancies: A Challenge to Overcome.

P-glycoprotein (P-gp), a transmembrane efflux pump encoded by the ABCB1/MDR1 gene, is a major contributor to multidrug resistance in hematological malignancies. These malignancies, arising from hematopoietic precursors at various differentiation stages, can manifest in the bone marrow, circulate in the bloodstream, or infiltrate tissues. P-gp overexpression in malignant cells reduces the efficacy of chemotherapeutic agents by actively expelling them, decreasing intracellular drug concentrations, and promoting multidrug resistance, a significant obstacle to successful treatment. This review exa