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Gaucher Disease Types I and III Responded Well to Substrate Reduction Therapy Using Eliglustat.

Gaucher disease (GD) causes the accumulation of glucocerebrosides in various organs, resulting in hepatosplenomegaly, anemia, decreased platelet counts, and bone disorders. Glucosylsphingosine accumulates in the brain and causes central nervous system (CNS) disorders. GD can be classified into types I (without CNS disorders), II, and III. Substrate reduction therapy (SRT) is an oral therapy that improves patients' quality of life; however, its effect on type III GD is unknown. We administered SRT to GD types I and III patients and found it effective. Malignancy is a late complication of GD, bu

Dynamic thiol and disulphide homoeostasis in fibromyalgia.

BACKGROUND AND PURPOSE: Contrast therapy consists of alternating thermotherapy and cryotherapy repeatedly to assist in the management of acute, subacute, and chronic musculoskeletal conditions. This has been utilized for several decades with good to excellent subjective and objective results reported for patients with swelling (acute to chronic), pain, and loss of motion. Typically, the intervention is performed by either the use of a hot and cold whirlpool or by applying hot and cold packs which can be very time consuming and labor intensive. The purpose of this study was to determine the eff

Trends and outcomes of chemotherapy timing in critically ill patients with hematologic malignancies using a Japanese national database.

Hematologic malignancies are a global public health concern, with high mortality rates in patients requiring critical care. The role of chemotherapy during intensive care unit (ICU) admission in this context remains unclear. This study aimed to analyze trends in survival rates based on chemotherapy timing and examine patient characteristics, ICU treatments, and clinical outcomes in each group. Using the Japanese Diagnosis Procedure Combination inpatient database, data from 21,837 patients aged ≥ 18 years who were hospitalized for hematologic malignancies and admitted to ICUs between April 1, 2

The Role of Vitamin C in Cancer Prevention and Therapy: A Literature Review.

Vitamin C is a water-soluble antioxidant associated with the prevention of the common cold and is also a cofactor of hydrolases that participate in the synthesis of collagen and catecholamines, and in the regulation of gene expression. In cancer, vitamin C is associated with prevention, progression, and treatment, due to its general properties or its role as a pro-oxidant at high concentration. This review explores the role of vitamin C in cancer clinical trials and the aspects to consider in future studies, such as plasmatic vitamin C and metabolite excretion recording, and metabolism and tra

Exposome and unhealthy aging: environmental drivers from air pollution to occupational exposures.

The aging population worldwide is facing a significant increase in age-related non-communicable diseases, including cardiovascular and brain pathologies. This comprehensive review paper delves into the impact of the exposome, which encompasses the totality of environmental exposures, on unhealthy aging. It explores how environmental factors contribute to the acceleration of aging processes, increase biological age, and facilitate the development and progression of a wide range of age-associated diseases. The impact of environmental factors on cognitive health and the development of chronic age

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… The toxic components in secondhand smoke can lead to endothelial dysfunction, inflammation, and increased oxidative stress in non-smokers, thereby contributing to the pathogenesis of cardiovascular diseases. …

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

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… Linda Gordon was a non-smoker, who developed lung cancer. She initially raised private funds to finance the drug erlotinib before applying, unsuccessfully, to her local PCT for continued funding. … Erlotinib, when used for non-small cell lung cancer, for example, has been shown in clinical trials to be more effective in those of Asian origin, lifelong non-smokers, and those with adenocarcinoma on histological examination. 101 Linda Gordon possessed two out of three of these characteristics, associated …

Совпадение с Такаясу Артеритом и множественным склерозом: обзор скрипта и доклад по делу.

ВВЕДЕНИЕ: Такайасу-артерит (ТА) и множественный склероз (МС) являются как иммунизированными заболеваниями, которые могут сосуществовать, при этом ТА вызывает сосудистое воспаление, а MS - обезвоживание, вызванное аберрантной активностью Т-клеток. Совпадение этих условий подчеркивает наличие общих иммунных механизмов, таких, как регулирование " Т-клеток " и высвобождение цитокина, что подчеркивает необходимость нюансированного понимания их взаимодействия, которое изучается в ходе описательного обзора зарегистрированных случаев. Мы рассказываем обо всех зарегистрированных случаях насил

Использование кладрибина в повторном склерозе после 8-10 лет: два сообщения о пациентах из исследования ORACLE-MS.

Cladribine — иммунная реконструктивная терапия для многократного склероза (MS), которая избирательно приводит к долгосрочному сокращению высокопатологической памяти клеток B с временным сокращением других подгрупп B- и T-клеток, тем самым восстанавливая иммунную функцию ближе к базовым уровням в краткосрочной перспективе. Здесь мы описываем два случая повторного использования MS (RMS), обработанных вторым курсом кладрибина. Первоначально у обоих пациентов был диагностирован клинически изолированный синдром, а позднее они были охвачены исследованиями ОРАКЛЕ-МС и CLASSIC-MS. После получения клад

What's your poison? Impact of individual repair capacity on the outcomes of genotoxic therapies in cancer. Part II - information content and validity of biomarkers for individual repair capacity in the assessment of outcomes of anticancer therapy.

The individual variance in the efficiency of repair of damage induced by genotoxic therapies may be an important factor in the assessment of eligibility for different anticancer treatments, the outcomes of various treatments and the therapy-associated complications, including acute and delayed toxicity and acquired drug resistance. The second part of this paper analyses the currently available information about the possibilities of using experimentally obtained knowledge about individual repair capacity for the purposes of personalised medicine and healthcare.

Риск инфицирования в реальном мире у многочисленных склерозов при долгосрочном лечении иммуномудулятора.

ВВЕДЕНИЕ: Существует множество методов иммуномодуляционного лечения для нескольких склерозов (MS), включая те из них, которые истощают иммунные клетки (например, лекарства против CD20), переносимые иммунные клетки (например, натализумаб, S1P модуляторы) или модулирующие иммунные поднаборы (например, фумараты). Все методы лечения, корректирующие заболевания (ДМТ), могут повысить риск инфицирования, который может ухудшиться в результате длительного применения. МЕТОДЫ: Это ретроспективное, одноцентральное, когортное исследование. Мы проанализировали медицинские записи взрослых людей с MS, которые

Abstracts of the 36th Annual Meeting of the Society of General Internal Medicine. April 24-27, 2013. Denver, Colorado, USA.

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Pyrotinib combined with thalidomide in advanced non-small-cell lung cancer patients harboring HER2 exon 20 insertions (PRIDE): protocol of an open-label, single-arm phase II trial.

BACKGROUND: Standard therapy for human epidermal growth factor receptor 2 (HER2)-mutant non-small-cell lung cancer (NSCLC) is lacking. The clinical benefits with pan-HER inhibitors (afatinib, neratinib, and dacomitinib), anti-HER2 antibody drug conjugate (ADC) trastuzumab emtansine, and an emerging irreversible tyrosine kinase inhibitor (TKI) poziotinib were modest. Another new ADC trastuzumab deruxtecan showed encouraging outcomes, but only phase I study was completed. Pyrotinib, another emerging irreversible epidermal growth factor receptor (EGFR)/HER2 dual TKI, has been approved in HER2-pos

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… This mutation is prone to be found in non-smokers and females, and the histological type is more likely to be adenocarcinoma or adenosquamous carcinoma [ 4 – 7 ]. …

Monocyte engraftment dynamics and flow cytometric analysis in allogeneic and autologous peripheral blood stem cell transplantation: a prospective study.

BACKGROUND: Hematopoietic stem cell transplantation (HSCT) success relies on timely engraftment and immune reconstitution. While neutrophil and platelet recovery are well-established clinical endpoints, the dynamics of monocyte engraftment and their relationship with hematopoietic recovery remain insufficiently characterized. METHODS: In this prospective observational study, 56 patients undergoing autologous (n = 32) or allogeneic (n = 24) peripheral blood stem cell transplantation were enrolled. Pre-engraftment monocyte peak day was defined based on serial complete blood counts. Flow cytomet

Воздействие потребления рыбы на развитие инвалидности при множественном склерозе.

Появляющиеся данные свидетельствуют о том, что рацион питания, включая потребление рыбы, может играть определенную роль в развитии и развитии множественного склероза (МС). Мы поставили перед собой цель изучить влияние потребления рыбы на развитие инвалидности в РС. МЕТОДЫ: Случаи инцидентов, полученные в ходе проведенного населением исследования по вопросам контроля за состоянием окружающей среды (n=2719), в ходе которого были получены данные о заборе рыбы и результатах применения расширенной шкалы взносов для инвалидов (EDSS), были отнесены к категории потребления рыбы, а затем до 15 лет посл

Does Double Mean Trouble? Coexistence of Myeloproliferative and Lymphoproliferative Neoplasms.

Background: The occurrence of myeloproliferative neoplasms (MPNs) that evolve into each other is well-described, as is this occurrence of lymphoproliferative neoplasms (LPNs). However, less is known about rare MPN/LPN coexistence, and the aim of our study was to analyze charachteristics of these patients after long term follow-up. Methods: Fourteen patients with MPN/LPN coexistence were diagnosed and treated according to guidelines at a single university center across two decades. Results: The overall median age was 53 years (22-69). MPNs patients with subsequent LPNs had a shorter period of s

A Combined Cyto- and Histopathological Diagnostic Approach Reduces Time to Diagnosis and Time to Therapy in First Manifestation of Metastatic Spinal Disease: A Cohort Study.

Malignant spinal lesions (MSLs) are frequently the first manifestation of malignant disease. Spinal care, diagnostic evaluation, and the initiation of systemic therapy are crucial for outcomes in patients (pts) with advanced cancer. However, histopathology (HP) may be time consuming. The additional evaluation of spinal lesions using cytopathology (CP) has the potential to reduce the time to diagnosis (TTD) and time to therapy (TTT). CP and HP specimens from spinal lesions were evaluated in parallel in 61 pts (CP/HP group). Furthermore, 139 pts in whom only HP was performed were analyzed (HP gr

Osteoporosis: Current Concepts.

Osteoporosis is a worldwide disease characterized by reduction of bone mass and alteration of bone architecture resulting in increased bone fragility and increased fracture risk. Causes of osteoporosis include increasing age, female sex, postmenopausal status, hypogonadism or premature ovarian failure, low body mass index, ethnic background, rheumatoid arthritis, low bone mineral density (BMD), vitamin D deficiency, low calcium intake, hyperkyphosis, current smoking, alcohol abuse, immobilization, and long-term use of certain medications. The diagnosis of osteoporosis is established by measure

Результаты лечения пациентов с множественным склерозом и раком твердых органов ингибиторами иммунной системы.

Множественные склерозы (МС) исключаются из исследований иммунных ингибиторов на контрольно-пропускных пунктах (ИКИ) из-за боязни вспышки MS. Цель этого исследования состоит в том, чтобы сообщить о случаях рецидива НР, связанных с иммунным иммунитетом неблагоприятных явлениях (IRAE) и результатах раковых заболеваний у пациентов НР с твердоорганизованным халатным отношением к КИУ. МЕТОДЫ: В ходе этого ретроспективного исследования были выявлены в электронной форме пациенты, получившие МЦУ в Центре по борьбе с раком в университетских больницах Сейдмана. Была собрана и проанализирована информация

A Prospective Study of the IlluminOss Photodynamic Nail System for Pelvic Stabilization: Treatment of Impending and Actual Fractures from Metastatic Bone Disease, Multiple Myeloma, and Primary Bone Lymphoma.

BackgroundThe stabilization of metastatic lesions in the periacetabular region can be successfully performed using percutaneous techniques. Photodynamic nails (PDNs) are among the available tools for stabilization. Data on postoperative complications and functional outcomes are, however, scarce.MethodsPatients undergoing percutaneous stabilization using PDNs (IlluminOss Medical) for impending or actual minimally displaced pathological fractures of the pelvis from metastatic bone disease, multiple myeloma, or primary bone lymphoma were enrolled prospectively. Outcomes were assessed preoperative

Second Primary Cancer After Bladder Cancer: A Comprehensive Analysis of a National Cancer Registry.

BACKGROUND: Bladder cancer (BC) is one of the most common cancers and many patients will experience long-term survival. Non-urothelial second primary cancers (SPC) relatively frequently occur in the population of BC survivors. METHODS: Czech National Cancer Registry was the principal data source for this study. The risk of development of non-urothelial SPC after BC was assessed by the standardized incidence ratio (SIR). The standardized mortality ratio (SMR) was utilized to determine the risk of death from SPC following BC. RESULTS: Of the total of 61,314 patients with BC, a cohort of 12,645