7,250,942 results match your criteria Diseases of Tetrapyrrole Metabolism: Refsum Disease and the Hepatic Porphyrias


Stress Fracture of the Femoral Shaft in Paget's Disease of Bone: A Case Report.

J Bone Metab 2021 May 31;28(2):171-178. Epub 2021 May 31.

Department of Orthopaedic Surgery, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Paget's disease of bone (PDB) is a progressive bone disorder characterized by increased osteoclast-mediated bone resorption and abnormal bone formation. Incomplete atypical femoral fracture, appearing radiographically as a stress fracture at the lateral aspect of the femur, is an uncommon low-trauma fracture frequently seen in association with long-term bisphosphonate therapy. We describe the case of a 61-year-old female patient with PDB who developed a stress fracture at the lateral femoral cortex after 5 doses of intravenous bisphosphonate. Read More

View Article and Full-Text PDF

Bone Loss and Radiographic Damage Profile in Rheumatoid Arthritis Moroccan Patients.

J Bone Metab 2021 May 31;28(2):151-159. Epub 2021 May 31.

Department of Rheumatology, Mohammed VI University Hospital, Faculty of Medicine, Mohammed I University, Oujda, Morocco.

Background: Rheumatoid arthritis (RA) is a known cause of joint destruction and systemic bone loss. In this study, we aimed to evaluate the bone damage and bone loss profiles of established RA patients.

Methods: We designed a cross-sectional study on a cohort of established RA patients. Read More

View Article and Full-Text PDF

A Network Meta-Analysis Comparing Osteoporotic Fracture among Different Direct Oral Anticoagulants and Vitamin K Antagonists in Patients with Atrial Fibrillation.

J Bone Metab 2021 May 31;28(2):139-150. Epub 2021 May 31.

Department of Cardiology, Sri Jayadeva Institute of Cardiac Sciences and Research, Bengaluru, India.

Background: There are limited studies comparing the risk of osteoporosis and fractures between different direct oral anticoagulants (DOACs) and vitamin K antagonists (VKA) in non-valvular atrial fibrillation (AF). Using a network meta-analysis (NMA), we compared osteoporotic fractures among 5 different treatment arms, viz. dabigatran, rivaroxaban, apixaban, edoxaban, and VKA. Read More

View Article and Full-Text PDF

The Impact of COVID-19 on the Optimal Management of Osteoporosis.

J Bone Metab 2021 May 31;28(2):115-122. Epub 2021 May 31.

Department of Orthopedic Surgery, Ewha Womans University, College of Medicine, Mokdong Hospital, Seoul, Korea.

Osteoporosis does not take a break while Coronavirus disease 2019 (COVID-19) stunned and overtook everyone's lives. Medical resources were immediately shifted, self-isolation and telemedicine were expanded, ambulatory care services such as bone densitometry and osteoporosis-centered clinics came to a near halt. Progress with fracture prevention has been challenged because osteoporotic fracture with low energy injury is more prevalent even though restriction of people's movement. Read More

View Article and Full-Text PDF

Inverse probability weighting is an effective method to address selection bias during the analysis of high dimensional data.

Genet Epidemiol 2021 Jun 15. Epub 2021 Jun 15.

Department of Biostatistics and Informatics, Colorado School of Public Health, Aurora, Colorado, USA.

Omics studies frequently use samples collected during cohort studies. Conditioning on sample availability can cause selection bias if sample availability is nonrandom. Inverse probability weighting (IPW) is purported to reduce this bias. Read More

View Article and Full-Text PDF

Tyrosine Kinase Inhibitor Sunitinib Delays Platelet-Induced Coagulation: Additive Effects of Aspirin.

Thromb Haemost 2021 Jun 15. Epub 2021 Jun 15.

Department of Biochemistry, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University, The Netherlands.

Background:  Sunitinib is a multitarget tyrosine kinase inhibitor (TKI) used for cancer treatment. In platelets, sunitinib affects collagen-induced activation under noncoagulating conditions. We investigated (1) the effects of sunitinib on thrombus formation induced by other TK-dependent receptors, and (2) the effects under coagulating conditions. Read More

View Article and Full-Text PDF

Type 2A and 2M von Willebrand Disease: Differences in Phenotypic Parameters According to the Affected Domain by Disease-Causing Variants and Assessment of Pathophysiological Mechanisms.

Semin Thromb Hemost 2021 Jun 15. Epub 2021 Jun 15.

Laboratorio de Hemostasia y Trombosis, IMEX-CONICET-Academia Nacional de Medicina de Buenos Aires. CABA, Argentina.

Type 2A and 2M von Willebrand disease (VWD) broadly show similar phenotypic parameters, but involve different pathophysiological mechanisms. This report presents the clinical and laboratory profiles of type 2A and type 2M patients genotypically diagnosed at one large center. Higher bleeding score values and a higher incidence of major bleeding episodes were observed in type 2A compared with type 2M, potentially reflective of the absence of large and intermediate von Willebrand factor (VWF) multimers in 2A. Read More

View Article and Full-Text PDF

The Biological Significance of von Willebrand Factor O-Linked Glycosylation.

Semin Thromb Hemost 2021 Jun 15. Epub 2021 Jun 15.

Haemostasis Research Group, Irish Centre for Vascular Biology, School of Pharmacy and Bimolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland.

Glycosylation is a key posttranslational modification, known to occur on more than half of all secreted proteins in man. As such, the role of N- and O-linked glycan structures in modulating various aspects of protein biology is an area of much research. Given their prevalence, it is perhaps unsurprising that variations in glycan structures have been demonstrated to play critical roles in modulating protein function and have been implicated in the pathophysiology of human diseases. Read More

View Article and Full-Text PDF

Rotational Thromboelastometry in Neonates Admitted to a Neonatal Intensive Care Unit: A Large Cross-sectional Study.

Semin Thromb Hemost 2021 Jun 15. Epub 2021 Jun 15.

Laboratory of Haematology and Blood Bank Unit, "Attikon" Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.

The aim of the present study was to assess the coagulation profile in neonatal critical illness using rotational thromboelastometry (ROTEM), and to investigate its association with disease severity and its potential prognostic role in this clinical setting. Over a period of 67 months (July 2014-February 2020) 423 critically ill neonates with confirmed or suspected sepsis, perinatal hypoxia, or respiratory distress syndrome, hospitalized in our neonatal intensive care unit were included in the study. Demographic, clinical, and laboratory data were recorded on admission day and arterial blood was analyzed on ROTEM analyzer using the standard extrinsically activated rotational thromboelastometry assay (EXTEM). Read More

View Article and Full-Text PDF

Anti-Xa Monitoring of Low-Molecular-Weight Heparin during Pregnancy: A Systematic Review.

Semin Thromb Hemost 2021 Jun 15. Epub 2021 Jun 15.

Department of Clinical Biochemistry, Aarhus University Hospital, Aarhus, Denmark.

Low-molecular-weight heparin (LMWH) is commonly used for preventing or treating venous thromboembolic disease (VTE) during pregnancy. The physiological changes in maternal metabolism have led to discussions on optimal LMWH dosing strategy and possible need for monitoring. The aim of this systematic review is to summarize and discuss whether LMWH dose adjustment according to anti-Xa provides superior effectiveness and safety compared with weight adjusted or fixed dosed LMWH in pregnant women. Read More

View Article and Full-Text PDF

COVID-19 and Antiphospholipid Antibodies: Time for a Reality Check?

Semin Thromb Hemost 2021 Jun 15. Epub 2021 Jun 15.

Section of Clinical Biochemistry, University of Verona, Verona, Italy.

Antiphospholipid antibodies (aPL) comprise a panel of autoantibodies that reflect a potential prothrombotic risk in several autoimmune conditions, most notably antiphospholipid (antibody) syndrome (APS). aPL can be divided into those that form part of the laboratory criteria for APS, namely, lupus anticoagulant (LA), as well as anticardiolipin antibodies (aCL) and anti-β2-glycoprotein I antibodies (aβ2GPI) of the immunoglobulin G and M classes, and those that form a group considered as "noncriteria antibodies." The noncriteria antibodies include, for example, antiphosphatidylserine antibodies (aPS), antiprothrombin antibodies (aPT), and antiphosphatidylserine/prothrombin complex antibodies (aPS/PT). Read More

View Article and Full-Text PDF

Contemporary Clinical Use of Aspirin: Mechanisms of Action, Current Concepts, Unresolved Questions, and Future Perspectives.

Semin Thromb Hemost 2021 Jun 15. Epub 2021 Jun 15.

Department of Clinical Medicine, Faculty of Health, Aarhus University, Aarhus, Denmark.

The ability of aspirin to inhibit platelet aggregation has positioned this agent within the most frequently used drugs worldwide. The aim of this article is to review the contemporary clinical use of aspirin and also to discuss unresolved issues not yet translated into clinical practice. Results from several clinical trials have led to strong guideline recommendations for aspirin use in the acute management and secondary prevention of cardiovascular disease. Read More

View Article and Full-Text PDF

Adjuvant versus Neoadjuvant Immunotherapy for Hepatocellular Carcinoma: Clinical and Immunologic Perspectives.

Semin Liver Dis 2021 Jun 15. Epub 2021 Jun 15.

Department of Oncology, National Taiwan University Hospital, Taipei, Taiwan.

Advancement in systemic therapy, particularly immune checkpoint inhibitor (ICI)-based combination regimens, has transformed the treatment landscape for patients with advanced hepatocellular carcinoma (HCC). The advancement in systemic therapy also provides new opportunities of reducing recurrence after curative therapy through adjuvant therapy or improving resectability through neoadjuvant therapy. Improved recurrence-free survival by adjuvant or neoadjuvant ICI-based therapy has been reported in other cancer types. Read More

View Article and Full-Text PDF

Current and Evolving Indications for Simultaneous Liver Kidney Transplantation.

Semin Liver Dis 2021 Jun 15. Epub 2021 Jun 15.

Division of Gastroenterology and Hepatology, Department of Medicine, Comprehensive Transplant Center, Northwestern University Feinberg School of Medicine, Chicago, Illinois.

This review will discuss the etiologies of kidney disease in liver transplant candidates, provide a historical background of the prior evolution of simultaneous liver-kidney (SLK) transplant indications, discuss the current indications for SLK including Organ Procurement and Transplantation Network policies and Model for End Stage Liver Disease exception points, as well as provide an overview of the safety net kidney transplant policy. Finally, the authors explore unanswered questions and future research needed in SLK transplantation. Read More

View Article and Full-Text PDF

Toward a Liver Cell Atlas: Understanding Liver Biology in Health and Disease at Single-Cell Resolution.

Semin Liver Dis 2021 Jun 15. Epub 2021 Jun 15.

Laboratory of Human Carcinogenesis, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland.

Single-cell technologies are revolutionizing our understanding of cellular heterogeneity and functional diversity in health and disease. Here, we review the current knowledge and advances in liver biology using single-cell approaches. We focus on the landscape of the composition and the function of cells in a healthy liver in the context of its spatial organization. Read More

View Article and Full-Text PDF

Interleukin-17 in Liver Disease Pathogenesis.

Semin Liver Dis 2021 Jun 15. Epub 2021 Jun 15.

Department of Surgery, University of California, San Diego, La Jolla, CA.

Interleukin 17A (IL-17A)-producing T helper 17 (Th17) cells were identified as a subset of T helper cells that play a critical role in host defense against bacterial and fungal pathogens. Th17 cells differentiate from Th0 naïve T-cells in response to transforming growth factor β1 (TGF-β1) and IL-6, the cytokines which also drive development of liver fibrosis, require activation of transcription factor retinoic acid receptor-related orphan nuclear receptor gamma (RORγ). IL-17A signals through the ubiquitously expressed receptor IL-17RA. Read More

View Article and Full-Text PDF

Drug-Induced Vanishing Bile Duct Syndrome: From Pathogenesis to Diagnosis and Therapeutics.

Semin Liver Dis 2021 Jun 15. Epub 2021 Jun 15.

Instituto de Fisiología Experimental (CONICET-UNR), Facultad de Ciencias Bioquímicas y Farmacéuticas, Universidad Nacional de Rosario, Rosario, Argentina.

The most concerned issue in the context of drug/herb-induced chronic cholestasis is vanishing bile duct syndrome. The progressive destruction of intrahepatic bile ducts leading to ductopenia is usually not dose dependent, and has a delayed onset that should be suspected when abnormal serum cholestasis enzyme levels persist despite drug withdrawal. Immune-mediated cholangiocyte injury, direct cholangiocyte damage by drugs or their metabolites once in bile, and sustained exposure to toxic bile salts when biliary epithelium protective defenses are impaired are the main mechanisms of cholangiolar damage. Read More

View Article and Full-Text PDF

Expression of the fructose transporter GLUT5 in patients with fructose malabsorption.

Z Gastroenterol 2021 Jun 15;59(6):531-539. Epub 2021 Jun 15.

Specialist Practice for Internal Medicine, Oldenburg, Oldenburg Germany.

Background:  Patients with abdominal symptoms are frequently diagnosed with fructose malabsorption (FM). Fructose is absorbed by monosaccharide transporters located in the brush border of the human small intestine. The aim of this study was to investigate the histoanatomical distribution of the main fructose transporter GLUT5. Read More

View Article and Full-Text PDF

[Impact of the COVID-19 pandemic on consultations and diagnosis in ENT practices in Germany].

Laryngorhinootologie 2021 Jun 15. Epub 2021 Jun 15.

Klinik für Hals-Nasen-Ohrenheilkunde, Städtisches Klinikum Solingen, Solingen, Germany.

Objective: During the first months of the COVID-19 pandemic, there was a significant reduction in the frequency of visits to healthcare institutions. This circumstance influenced the timely diagnosis and subsequential initiation of therapy in almost all specialties. The aim of the present study is to evaluate a hypothetical change in health awareness with regard to outpatient consultations of ENT physicians in Germany. Read More

View Article and Full-Text PDF

[Deep vein thrombosis - diagnostics and clarification].

Authors:
Lars H Lindner

Dtsch Med Wochenschr 2021 Jun 15;146(12):832-836. Epub 2021 Jun 15.

Deep vein thrombosis usually manifests as leg or pelvic vein thrombosis (DVT). The causes are either acquired or inherited and can also occur in combination. Early diagnosis and treatment of DVT can reduce the risk of pulmonary embolism and postthrombotic syndrome. Read More

View Article and Full-Text PDF

Abdominal Panniculectomy Can Simplify Kidney Transplantation in Obese Patients.

Urol Int 2021 Jun 15:1-8. Epub 2021 Jun 15.

Department of Plastic and Hand Surgery and Laboratory for Tissue Engineering and Regenerative Medicine, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg (FAU), Erlangen, Germany.

Background: Obesity is frequently present in patients suffering from end-stage renal disease (ESRD). However, overweight kidney transplant candidates are a challenge for the transplant surgeon. Obese patients tend to develop a large abdominal panniculus after weight loss creating an area predisposed to wound-healing disorders. Read More

View Article and Full-Text PDF

Teratomatous Elements in Orchiectomy Specimens Are Associated with a Reduced Relapse-Free Survival in Metastasized Testicular Germ Cell Tumors.

Urol Int 2021 Jun 15:1-7. Epub 2021 Jun 15.

Department of Urology, Uro-Oncology, Robot Assisted and Reconstructive Urologic Surgery, University Hospital Cologne, Cologne, Germany.

Introduction: The impact of teratomatous elements in orchiectomy specimens of metastasized testicular germ cell tumors (TGCT) regarding oncological outcome is still unclear.

Methods: We performed a retrospective analysis including 146 patients with metastasized TGCT analysing patient characteristics.

Results: Twenty-six (18%) of all patients showed teratomatous elements in the orchiectomy specimens. Read More

View Article and Full-Text PDF

From Proteinuria to Fibrosis: An Update on Pathophysiology and Treatment Options.

Kidney Blood Press Res 2021 Jun 15:1-10. Epub 2021 Jun 15.

Department of Renal Medicine, St. George Hospital, Sydney, New South Wales, Australia.

Background: Proteinuria is a key biomarker in nephrology. It is central to diagnosis and risk assessment and the primary target of many important therapies. Etiologies resulting in pathological proteinuria include congenital and acquired disorders, as well as both glomerular (immune/non-immune mediated) and tubular defects. Read More

View Article and Full-Text PDF

Risk Factors Associated with Preterm Prelabor Rupture of Membranes after Cord Occlusion in Monochorionic Diamniotic Twins.

Fetal Diagn Ther 2021 Jun 15:1-7. Epub 2021 Jun 15.

BCNatal Fetal Medicine Research Center, Hospital Clínic and Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.

Introduction: Preterm prelabor rupture of membranes (PPROM) is a common complication after fetal surgeries. The aim of this study was to assess risk factors for and outcomes after PPROM following cord occlusion (CO) in monochorionic diamniotic (MCDA) pregnancies.

Methods: This was a retrospective cohort study of 188 consecutive MCDA pregnancies treated by bipolar or laser CO, either primarily because of discordant malformation (dMF) or severe selective fetal growth restriction (sFGR), or secondarily when complete bichorionization was not possible in case of twin-to-twin transfusion syndrome (TTTS) or sFGR. Read More

View Article and Full-Text PDF

Mechanism and Priority of Botulinum Neurotoxin A versus Sacral Neuromodulation for Refractory Overactive Bladder: A Review.

Urol Int 2021 Jun 15:1-6. Epub 2021 Jun 15.

First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

Background: The treatment of common overactive bladder (OAB) has reached a consensus, but there is not a clear answer to the treatment of refractory OAB (ROAB). ROAB is defined as nonresponsive to treatment with behavioural and oral therapies. The disease can influence the physical and mental health of patients, cause poor quality of life, and create an urgent socio-economic burden. Read More

View Article and Full-Text PDF

Calcineurin Inhibitor Toxicity in Solid Organ Transplantation.

Pharmacology 2021 Jun 15:1-9. Epub 2021 Jun 15.

Department for Nephrology and Hypertension, University Hospital Insel Bern, Bern, Switzerland.

Calcineurin inhibitors (CNIs) have a substantial role in maintaining immunosuppression after solid organ transplantation (SOT). These drugs have a narrow therapeutic window, and individual doses and drug treatment monitoring are necessary. Still, a substantial proportion of patients suffer from short- or long-term calcineurin inhibitor toxicity (CNT), including kidney function impairment, hypertension, neurotoxicity, and metabolic disturbances. Read More

View Article and Full-Text PDF

Indoleamine-2,3-Dioxygenase Activates Wnt/β-Catenin Inducing Kidney Fibrosis after Acute Kidney Injury.

Gerontology 2021 Jun 15:1-9. Epub 2021 Jun 15.

Department of Nephrology, Sir Run Run Hospital, Nanjing Medical University, Nanjing, China.

Introduction: As disorder of tryptophan metabolism is common in CKD, the rate-limiting enzyme of tryptophan, indoleamine-2,3-dioxygenase (IDO), has been reported to be involved in CKD, while the accurate mechanism remains unknown. This study was designed to explore correlations between IDO and kidney fibrosis after ischemia-reperfusion injury (IRI).

Methods: Wild-type (WT) mice and IDO knockout (IDO-/-) mice were divided into the sham group and acute kidney injury (AKI) group. Read More

View Article and Full-Text PDF

Association of Acute Kidney Injury with Outcomes in Patients Undergoing Transcatheter Mitral Valve Repair.

Cardiology 2021 Jun 15:1-7. Epub 2021 Jun 15.

Division of Cardiology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

Introduction: Although transcatheter mitral valve repair (TMVr) is a contrast-free procedure, prior single-center studies have demonstrated a high incidence of acute kidney injury (AKI) following TMVr. The main objective of this study was to examine risk factors for AKI, and its association with outcomes in patients undergoing TMVr.

Methods: We queried the National Readmission Database to identify TMVr procedures performed between January 2014 and December 2017. Read More

View Article and Full-Text PDF