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APOE4 genotype negates the benefits of 17β-estradiol on cerebrovascular endothelial and mitochondrial function.

BACKGROUND: Postmenopausal females who carry an APOEε4 allele are at higher risk of late-onset Alzheimer's Disease compared to age-matched APOEε4 males. Estrogen deficiency predisposes females to an increased risk of vascular, cognitive, and metabolic impairments. While estrogen and APOE genotype are known to impact metabolic and mitochondrial function in the brain, their cerebrovascular effects are less understood. Thus, the purpose of this study was to determine the interaction between APOE genotype and estrogen on cerebrovascular endothelial and mitochondrial function. METHODS: Young femal

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.

OBJECTIVE: Recent reports warn that the worldwide cell culture capacity is insufficient to fulfill the increasing demand for human protein d … effective medicine can be produced in the milk of mammals and encourages additional development of enzyme replacement therapy for the several forms of Pompe disease. Restoration of skeletal muscle function and prevention of pulmonary insufficiency require dosing in the range of 20 to 40 mg/kg/week. The effect depends on residual muscle function at the start of treatment. E …

Imbalance of mononuclear cell infiltrates in the placental tissue from foetuses after spontaneous abortion versus therapeutic termination from 8th to 12th weeks of gestational age.

Placental macrophages (Hofbauer cells) are located close to trophoblastic cells and foetal capillaries, which make them perfect candidates for involvement in regulatory processes within the villous core. Their capacity of producing several cytokines and prostaglandin-synthesising enzymes, and expressing vascular endothelial growth factor, indicate a possible role in placental development and angiogenesis in order to support pregnancy. Common cells to Hofbauer macrophages sharing similar cell surface markers (HLA-A, -B, -C and leukocyte common antigen) have been reported in the stroma, decidua

Potentials of bone marrow cells-derived from naïve or diabetic mice in autoimmune type 1 diabetes: immunomodulatory, anti-inflammatory, anti hyperglycemic, and antioxidative.

BACKGROUND: The scarcity of transplanted human islet tissue and the requirement for immunosuppressive drugs to prevent the rejection of allogeneic grafts have hindered the treatment of autoimmune type 1 diabetes mellitus (T1DM) through islet transplantation. However, there is hope in adoptively transferred bone marrow cells (BMCs) therapy, which has emerged as a propitious pathway for forthcoming medications. BMCs have the potential to significantly impact both replacement and regenerative therapies for a range of disorders, including diabetes mellitus, and have demonstrated anti-diabetic effe

Recognizing multiple epiphyseal dysplasia in children presenting with joint pain: a commonly overlooked skeletal dysplasia.

UNLABELLED: Multiple epiphyseal dysplasias are relatively common skeletal disorders, and diagnosing children can often be challenging due to various presenting complaints, including joint pain, short stature, waddling gait, joint deformities, and myopathy findings. Patients may experience early-onset osteoarthritis, and in some cases, joint replacement therapy may be required. Radiographs are characterized by flat, small, and irregularly shaped epiphyses, especially in the hips and knees. Multiple epiphyseal dysplasias are caused by variants in the genes encoding important cartilage extracellu

[Analysis of prognosis risk factors of critically ill patients after cardiac surgery: a consecutive 5-year retrospective study].

OBJECTIVE: To explore the risk factors affecting prognosis of critically ill patients following cardiac surgery, furthermore, to assess severity and keep alarm earlier. METHODS: A retrospective study was conducted. The clinical data of critically ill patients following cardiac surgery admitted to intensive care unit (ICU) of the Affiliated Hospital of Guizhou Medical University from January 1st 2014 to December 31st 2018 were enrolled. The clinical characteristics, acute physiology and chronic health evaluation II (APACHE II) and the worst laboratory examination within 24 hours after ICU admi

PCSK9 monoclonal antibodies for the primary and secondary prevention of cardiovascular disease.

BACKGROUND: Despite the availability of effective drug therapies that reduce low-density lipoprotein (LDL)-cholesterol (LDL-C), cardiovascular disease (CVD) remains an important cause of mortality and morbidity. Therefore, additional LDL-C reduction may be warranted, especially for people who are unresponsive to, or unable to take, existing LDL-C-reducing therapies. By inhibiting the proprotein convertase subtilisin/kexin type 9 (PCSK9) enzyme, monoclonal antibodies (PCSK9 inhibitors) reduce LDL-C and CVD risk. OBJECTIVES: Primary To quantify the effects of PCSK9 inhibitors on CVD, all-cause

An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment.

BACKGROUND: The substrate synthesis inhibitor miglustat (N-butyldeoxynojirimycin) is the first oral agent to receive regulatory approval for … I GD (confirmed by genotyping and glucocerebrosidase assay) who were unwilling or unable to receive enzyme replacement therapy (ERT) or who had discontinued ERT for at least 3 months. Patients received miglustat 100 mg TID for 12 months, with the option of continuing treatment for a further 12 months. The primary end point was the percentage change in liver volume. Secondar …

[Study on mechanism of Jiedu Huxin Formula protecting against heart failure caused by hypertension by regulating TGF-β1/p38 MAPK/NF-κB pathway based on network pharmacology and experimental validation].

Using data mining methods, this study analyzed and summarized the medication patterns and detoxification therapies employed in TCM for treating heart failure caused by hypertension(hypertensive heart failure). It optimized the detoxifying herbs in the Qishen Granule to formulate a Jiedu Huxin Formula for treating hypertensive heart failure. The mechanism of action of this formula was explored through network pharmacology and experimental validation. Relevant literature on TCM treatment for hypertensive heart failure was retrieved from databases including CNKI, Wanfang Med Online, VIP, and the

Mycophenolic acid versus azathioprine as primary immunosuppression for kidney transplant recipients.

BACKGROUND: Modern immunosuppressive regimens after kidney transplantation usually use a combination of two or three agents of different classes to prevent rejection and maintain graft function. Most frequently, calcineurin-inhibitors (CNI) are combined with corticosteroids and a proliferation-inhibitor, either azathioprine (AZA) or mycophenolic acid (MPA). MPA has largely replaced AZA as a first line agent in primary immunosuppression, as MPA is believed to be of stronger immunosuppressive potency than AZA. However, treatment with MPA is more costly, which calls for a comprehensive assessment

[Chinese experts consensus statement: diagnosis and treatment of cystic fibrosis (2023)].

Cystic fibrosis (CF) is one of the most common autosomal recessive genetic diseases in Caucasians, but CF patients in China are rare, and it … chanical ventilation(2C).Question 25: How to deal with pancreatic disease in CF patients?Pancreatic enzyme replacement therapy is recommended in patients with CF pancreatic disease(1A).Question 26: How to deal with hepatobiliary disease in CF patients?Ursodeoxycholic acid is not recommended in asymptomatic patients with CF hepatobiliary disease(2B).Question 27: How to deal …

[Chinese expert consensus on the diagnosis and treatment of pneumoconiosis complicated with tuberculosis].

Pneumoconiosis complicated with pulmonary tuberculosis is characterized by high prevalence and disability rates, as well as difficulty in early diagnosis, constituting a serious public health problem. The Chinese Society of Tuberculosis (Chinese Medical Association) and the Society of Labor Hygiene and Occupational Diseases (Chinese Preventive Medicine Association) organized multidisciplinary experts in respiratory diseases, occupational diseases, tuberculosis and other related fields to formulate the Chinese expert consensus on the diagnosis and treatment of pneumoconiosis complicated with tu

Angiotensin-converting enzyme inhibitors and angiotensin receptor blockers for adults with early (stage 1 to 3) non-diabetic chronic kidney disease.

BACKGROUND: Chronic kidney disease (CKD) is a long-term condition that occurs as a result of damage to the kidneys. Early recognition of CKD is becoming increasingly common due to widespread laboratory estimated glomerular filtration rate (eGFR) reporting, raised clinical awareness, and international adoption of the Kidney Disease Improving Global Outcomes (KDIGO) classifications. Early recognition and management of CKD affords the opportunity to prepare for progressive kidney impairment and impending kidney replacement therapy and for intervention to reduce the risk of progression and cardiov

The kidney and cardiovascular outcome trials.

Chronic kidney disease (CKD) affects a substantial minority of people with type 2 diabetes (T2D). Analysis of US National Health and Nutrition Examination Survey (NHANES) datasets from 2007 through 2012 showed Stage 3 or worse disease (estimated glomerular filtration rate [eGFR] <60 mL/min per 1.73 m2 ) in nearly one in five patients, with increasing age, blood pressure, obesity, and levels of glycemia all associated with higher likelihood of Stage 3 or worse CKD, comparable to findings from surveys from many other areas, which also show micro- or macroalbuminuria to be present in one-sixth to

Optimum methadone compliance testing: an evidence-based analysis.

OBJECTIVE: The objective of this analysis was to determine the diagnostic utility of oral fluid testing collected with the Intercept oral fluid collection device. CLINICAL NEED: TARGET POPULATION AND CONDITION Opioids (opiates or narcotics) are a class of drugs derived from the opium poppy plant that typically relieve pain and produce a euphoric feeling. Methadone is a long-acting synthetic opioid used to treat opioid dependence and chronic pain. It prevents symptoms of opioid withdrawal, reduces opioid cravings and blocks the euphoric effects of short-acting opioids such as heroin and morphi

Safety and efficacy assessment of allogeneic human dental pulp stem cells to treat patients with severe COVID-19: structured summary of a study protocol for a randomized controlled trial (Phase I / II).

OBJECTIVES: To assess the safety and therapeutic effects of allogeneic human dental pulp stem cells (DPSCs) in treating severe pneumonia caused by COVID-19. TRIAL DESIGN: This is a single centre, two arm ratio 1:1, triple blinded, randomized, placebo-controlled, parallel group, clinical trial. PARTICIPANTS: Twenty serious COVID-19 cases will be enrolled in the trial from April 6th to December 31st 2020. INCLUSION CRITERIA: hospitalised patients at Renmin Hospital of Wuhan University satisfy all criteria as below: 1)Adults aged 18-65 years;2)Voluntarily participate in this clinical trial and

Health technology assessment of drugs for rare diseases: insights, trends, and reasons for negative recommendations from the CADTH common drug review.

BackgroundA shift in biochemical research towards drugs for rare diseases has created new challenges for the pharmaceutical industry, government regulators, health technology assessment agencies, and public and private payers. In this article, we aim to comprehensively review, characterize, identify possible trends, and explore reasons for negative reimbursement recommendations in submissions made to the Common Drug Review (CDR) for drugs for rare diseases (DRD) at the Canadian Agency for Drugs and Technologies in Health (CADTH), a publicly funded pan-Canadian health technology assessment agen

Совпадение в полном тексте источника
… Biologic/Enzyme replacement therapy Fabry Disease 0.22 a Do not list 24/02/2004 Fabrazyme agalsidase beta Genzyme Canada Inc. Biologic/Enzyme replacement therapy Fabry Disease 0.22 a Do not list 14/07/2004 Remodulin Treprostinil sodium Northern Theraputics Inc. … Biologic/Enzyme replacement therapy Fabry Disease 0.22 a Do not list 03/02/2005 Aldurazyme laronidase Genzyme Canada Inc. Biologic/Enzyme replacement therapy Mucopolysaccharidosis I 8 a Do not list 25/01/2006 Somavert pegvisomant Pfizer Canada Inc. …

Joint manifestations revealing inborn metabolic diseases in adults: a narrative review.

Inborn metabolic diseases (IMD) are rare conditions that can be diagnosed during adulthood. Patients with IMD may have joint symptoms and the challenge is to establish an early diagnosis in order to institute appropriate treatment and prevent irreversible damage. This review describes the joint manifestations of IMD that may be encountered in adults. The clinical settings considered were arthralgia and joint stiffness as well as arthritis. Unspecific arthralgias are often the first symptoms of hereditary hemochromatosis, chronic low back pain may reveal an intervertebral disc calcification in

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… Treatment for these moderate forms consists in enzyme replacement therapy available for MPS 1, 2, 4a, 6 and 7. Orthopedic surgery may improve quality of life and function [ 33 ]. … Enzyme replacement therapy by asfotase alpha is available but dedicated to the most severe pediatric forms. Teriparatide has been shown to improve pain, mobility and fracture repair in adult patients. …

Imiglucerase in the treatment of Gaucher disease: a history and perspective.

The scientific and therapeutic development of imiglucerase (Cerezyme(®)) by the Genzyme Corporation is a paradigm case for a critical examination of current trends in biotechnology. In this article the authors argue that contemporary interest in treatments for rare diseases by major pharmaceutical companies stems in large part from an exception among rarities: the astonishing commercial success of Cerezyme. The fortunes of the Genzyme Corporation, latterly acquired by global giant Sanofi SA, were founded on the evolution of a blockbuster therapy for a single but, as it turns out, propitious ul

Совпадение в полном тексте источника
… replacement therapy in patients with type 3 Gaucher (chronic neuronopathic) disease; and (6) the long-term outcomes of the disease in its treated state. … Registry data The International Collaborative Gaucher Group Gaucher Registry – commonly referred to as the Gaucher Registry – has been in operation since 1991 with a remit to collect data on safety and clinical outcomes of patients on enzyme replacement therapy. …

Glucosylsphingosine (Lyso-Gb1) as a reliable biomarker in Gaucher disease: a narrative review.

BACKGROUND: Gaucher disease (GD) is a rare, inherited, autosomal recessive disorder caused by a deficiency of the lysosomal enzyme, acid β-glucosidase. Its diagnosis is achieved via measurements of acid β-glucosidase activity in either fresh peripheral blood leukocytes or dried blood spots, and confirmed by identifying characteristic mutations in the GBA1 gene. Currently, several biomarkers are available for disease monitoring. Chitotriosidase has been used over the last 20 years to assess the severity of GD, but lacks specificity in GD patients. Conversely, the deacylated form of glucosylcera

Совпадение в полном тексте источника
… Enzyme replacement therapy: role in the variation of plasma lyso-Gb1 levels A reliable biomarker is crucial not only for monitoring disease progression, but also to assess treatment response. … Table 3 Enzyme replacement therapy: role in the variation of lyso-Gb1 plasma levels ERT, enzyme replacement therapy; GD, Gaucher disease; GD1, type 1 GD; Lyso-Gb1, glucosylsphingosine; M, multicenter; P, prospective; R, Retrospective; ULN, upper limit of normal References | Study design | Population …