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PLoS Genet 2020 09 28;16(9):e1009028. Epub 2020 Sep 28.

Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, California, United States of America.

Idiopathic hypocalcemia in Thoroughbred (TB) foals causes tetany and seizures and is invariably fatal. Based upon the similarity of this disease with human familial hypoparathyroidism and occurrence only in the TB breed, we conducted a genetic investigation on two affected TB foals. Familial hypoparathyroidism was identified, and pedigree analysis suggested an autosomal recessive (AR) mode of inheritance. Read More

Hong Kong Physiother J 2020 Jun 20;40(1):39-49. Epub 2020 Feb 20.

Kovai Medical Centre and Hospital, Avinashi Road, Coimbatore, Tamil Nadu, India.

Background: Individuals with Parkinson's disease (PD) invariably experience functional decline in a number of motor and non-motor domains affecting posture, balance and gait. Numerous clinical studies have examined effects of various types of exercise on motor and non-motor problems. But still much gap remains in our understanding of various therapies and their effect on delaying or slowing the dopamine neuron degeneration. Read More

Biochem Biophys Res Commun 2020 07 27;528(2):269-275. Epub 2020 May 27.

Department of Molecular Medicine, Research Institute for Frontier Medicine, Sapporo Medical University School of Medicine, Sapporo, Japan. Electronic address:

Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive interstitial lung disease that includes fibroblastic foci (FF). It has been increasingly appreciated that the origin of collagen-overproducing cells such as pathological myofibroblasts in FF is pericytes. However, neither pericytes derived from the lung nor FF in the IPF lung have not been fully characterized. Read More

Curr Pulmonol Rep 2018 Dec 16;7(4):118-125. Epub 2018 Oct 16.

Department of Medicine, University of Colorado Denver, Aurora, CO.

Purpose Of Review: Idiopathic pulmonary fibrosis (IPF) is an invariably progressive disease. Current treatment options simply slow disease progression and better therapeutic options are needed. We aimed to review emerging literature on risk factors associated with the development of IPF. Read More

J Pathol 2019 11 27;249(3):356-367. Epub 2019 Aug 27.

Department of Cell and Chemical Biology and Oncode Institute, Leiden University Medical Center, Leiden, The Netherlands.

Pulmonary arterial hypertension (PAH) is characterised by an increase in mean pulmonary arterial pressure which almost invariably leads to right heart failure and premature death. More than 70% of familial PAH and 20% of idiopathic PAH patients carry heterozygous mutations in the bone morphogenetic protein (BMP) type 2 receptor (BMPR2). However, the incomplete penetrance of BMPR2 mutations suggests that other genetic and environmental factors contribute to the disease. Read More

Circulation 2019 05;139(20):2304-2314

Tel Aviv Sourasky Medical Center and Sackler School of Medicine, Tel Aviv University, Israel (S.V., E.C., D.V., A. Hochstadt, A. Halkin, O.T-B., O.H., B.B., R.R.).

Background: Polymorphic ventricular tachycardia (VT) without QT prolongation is well described in patients without structural heart disease (mainly idiopathic ventricular fibrillation and Brugada syndrome) and in patients with acute ST-elevation myocardial infarction.

Methods: Retrospective study of patients with polymorphic VT related to coronary artery disease, but without evidence of acute myocardial ischemia.

Results: The authors identified 43 patients in whom polymorphic VT developed within days of an otherwise uncomplicated myocardial infarction or coronary revascularization procedure. Read More

J Med Case Rep 2018 Dec 3;12(1):357. Epub 2018 Dec 3.

Department of Ophthalmology, Li Ka Shing Faculty of Medicine, University of Hong Kong, 301B Cyberport 4, 100 Cyberport Road, Pokfulam, Hong Kong SAR.

Background: Limbic encephalitis is characterized by rapid onset of working memory deficit, mood changes, and often seizures. The condition has a strong paraneoplastic association, but not all cases are invariably due to tumors.

Case Presentation: We present a case of limbic encephalitis in a Chinese patient who initially presented to our hospital with optic neuritis and no other neurological symptoms. Read More

Am J Surg Pathol 2019 02;43(2):261-267

Department of Pathology.

The term "idiopathic calcifying tenosynovitis" (ICT) refers to a clinically and radiologically defined syndrome of pain and tendinous calcifications, most often involving the shoulder joint. A distinctive subset of ICT cases, termed "tenosynovitis with psammomatous calcifications" (TPC), occurs in the distal extremities and shows characteristic morphology, in particular psammomatous calcifications. As only 14 cases have been reported to date, TPC remains poorly recognized by both pathologists and clinicians. Read More

Cell Tissue Res 2018 07 5;373(1):149-160. Epub 2018 Jun 5.

Escourolle Neuropathology Department, Groupe Hospitalier Pitié-Salpêtrière-Charles Foix, 47 Boulevard de l'Hopital, 75651, Paris Cedex 13, France.

Misfolded α-synuclein accumulates in histological inclusions constituting "Lewy pathology" found in idiopathic Parkinson disease, Parkinson disease dementia and dementia with Lewy body. The mechanism inducing α-synuclein misfolding is still unknown. The misfolded molecules form oligomers that organize into fibrils. Read More

PLoS One 2018 1;13(6):e0198184. Epub 2018 Jun 1.

Institute of Transfusion Medicine, Charité Unversitätsmedizin Berlin, Berlin, Germany.

Background: Many patients with immune thrombocytopenia (ITP) may require special attention and long-term treatment. Little is known on the efficacy and tolerability of the drugs used in practice.

Material And Methods: We retrospectively reviewed the results of therapy of 400 patients with chronic ITP. Read More

Intern Emerg Med 2018 06 9;13(4):475-489. Epub 2018 Apr 9.

Department of Experimental and Clinical Medicine, University of Firenze, Largo Brambilla 3, 50134, Firenze, Italy.

Recurrent pericarditis is one of the most frequent pericardial diseases, affecting up to 30% of the patients who have experienced acute pericarditis. While the diagnosis of acute pericarditis is sometime straight forward, its etiology and therapeutic management are still a challenge for physicians. In developed countries, the idiopathic form is the most frequent, and the search for an infectious etiology is almost invariably negative. Read More

Ann R Coll Surg Engl 2018 Feb;100(2):83-91

Cardiff and Vale University Health Board , UK.

Introduction Paget-Schroetter syndrome is a rare effort thrombosis of the axillary-subclavian vein, mainly occurring in young male patients. Current management involves immediate catheter directed thrombolysis, followed by surgical decompression of the subclavian vein. This has been invariably performed using a transaxillary or supraclavicular approach. Read More

Eur J Neurol 2018 01 17;25(1):13-23. Epub 2017 Aug 17.

Department of Rheumatology, University College London Hospitals, London, UK.

Inflammatory idiopathic myopathies are a group of autoimmune diseases affecting predominantly the proximal skeletal muscles, with raised muscle enzymes, with or without skin involvement and extramuscular organ involvement. Autoantibodies help to characterize patients into different clinical phenotypes. Successful treatment necessitates controlling inflammation early with corticosteroids and invariably requires additional immunosuppressive therapy. Read More

J Neurol 2017 Sep 12;264(9):1854-1863. Epub 2017 Jun 12.

Fondazione IRCCS Istituto Neurologico, Via Giovanni Celoria, 11, 20133, Milan, Italy.

Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune neuromuscular junction disorder that is related to the loss of functional P/Q-type voltage-gated calcium channels (VGCCs) on presynaptic nerve terminals. Up to 60% of cases occur as a paraneoplastic disorder (SCLC-LEMS), most commonly in association with small cell lung cancer. The remaining cases have an idiopathic non-tumor etiology but are associated with underlying autoimmune disease (NT-LEMS). Read More

Expert Opin Emerg Drugs 2017 03 20;22(1):27-38. Epub 2017 Feb 20.

a Charité - Universitätsmedizin Berlin, Germany - Institute of Transfusion Medicine , Berlin , Germany.

Introduction: Immune thrombocytopenia (ITP) is an autoimmune disorder characterized by autoantibody production against platelets, increased platelet destruction, and, in some cases, impaired thrombopoiesis. The majority of affected patients have significant bleeding risks due to low platelet counts and require treatment. The etiology of ITP is an immunological labyrinth. Read More

Int J Stem Cells 2016 Nov;9(2):192-206

Kasiak Research Pvt Ltd, DIL Complex, Thane, India.

Background And Objectives: Idiopathic pulmonary fibrosis (IPF) is a progressive, irreversible, invariably fatal fibrotic lung disease with no lasting option for therapy. Mesenchymal stem cells (MSCs) could be a promising modality for the treatment of IPF. Aim of the study was to investigate improvement in survivability and anti-fibrotic efficacy of human adipose-derived mesenchymal stem cells (AD-MSCs) in comparison with pirfenidone in the bleomycin-induced pulmonary fibrosis model. Read More

Endocr Pract 2017 Mar 16;23(3):279-287. Epub 2016 Nov 16.

Objective: Late-onset hypogonadotropic hypogonadism (LOH) is a complex, heterogeneous entity. Whenever treatment is indicated, the endocrine literature has recommend testosterone replacement. We present our experience with clomiphene citrate treatment in patients with LOH and a review of the literature. Read More

Nat Sci Sleep 2016 11;8:145-58. Epub 2016 May 11.

Sleep Disorders Centre, University of Manitoba, Winnipeg, MB, Canada.

Introduction: The utility of multiple sleep latency tests (MSLTs) is limited to determining sleep onset latency (SOL) and rapid eye movement sleep latency. The odds ratio product (ORP) is a continuous index of sleep depth with values of 0, 1.0, and 2. Read More

BMC Hematol 2015 1;15:16. Epub 2015 Dec 1.

Division of Hematology, Department of Medicine, University of Washington, Seattle, WA 98195-7710 USA ; Seattle Cancer Care Alliance, 825 Eastlake Ave. E, Seattle, WA 98109 USA.

Background: Idiopathic thrombotic thrombocytopenic purpura (TTP) is a rare hematological emergency characterized by the pentad of microangiopathic hemolytic anemia, thrombocytopenia, neurological symptoms, renal injury, and fever that is invariably fatal if left untreated. Prompt intervention with plasma exchange minimizes mortality and is the cornerstone of therapy. Rare reports have described "pseudo-TTP" driven by extreme hematologic abnormalities resulting from deficiency of vitamin B12. Read More

Respirology 2016 Apr 23;21(3):427-37. Epub 2015 Nov 23.

National Institute for Health Research, Southampton Respiratory Biomedical Research Unit, Southampton University Hospital, Southampton, UK.

Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive fibrosing lung disorder of unknown aetiology whose diagnosis involves the careful exclusion of secondary causes for pulmonary fibrosis and the presence of a pattern of usual interstitial pneumonia (UIP) at either high-resolution computed tomography (HRCT) scan or surgical lung biopsy. Despite great efforts made in establishing precise, universally acknowledged diagnostic criteria for IPF, its ascertainment remains a challenge, especially in those individuals presenting with atypical HRCT patterns. With new drugs emerging, establishing a precise diagnosis is becoming a clinically relevant issue. Read More

J Immunol 2015 Sep 14;195(6):2852-60. Epub 2015 Aug 14.

Department of Infection, Immunity and Inflammation, Institute for Lung Health, University of Leicester, Leicester LE1 7RH, United Kingdom; and.

Idiopathic pulmonary fibrosis (IPF) is a common, progressive, and invariably lethal interstitial lung disease with no effective therapy. The key cell driving the development of fibrosis is the myofibroblast. Lipoxin A4 (LXA4) is an anti-inflammatory lipid, important in the resolution of inflammation, and it has potential antifibrotic activity. Read More

Biomol Ther (Seoul) 2015 Jul 1;23(4):350-6. Epub 2015 Jul 1.

College of Pharmacy, Yeungnam University, Gyeongsan 712-749.

Functional dyspepsia (FD) is a prevalent idiopathic upper gastrointestinal (GI) disorder characterized by diverse symptomatology including epigastric pain or discomfort, postprandial fullness, and early satiety. Although its pathophysiological mechanisms have not yet been fully established, the available studies suggest that the etiology of FD is invariably multifactorial. Benachio-F(®) (BF) is a proprietary liquid formulation of 7 herbal extracts that has been proposed to address this multifactorial etiology using multi-drug phytotherapy. Read More

Curr Opin Pulm Med 2015 Sep;21(5):470-8

aMedical University Clinic, Canton Hospital Baselland, University of Basel, Liestal, Switzerland bDepartment of Internal Medicine, Section of Pulmonary, Critical Care and Sleep Medicine, Yale School of Medicine, New Haven, Connecticut, USA cNIHR Respiratory Biomedical Research Unit, Royal Brompton Hospital, London, UK.

Purpose Of Review: In this article, we summarize and discuss the most recent literature on personalized medicine in idiopathic pulmonary fibrosis (IPF), a chronic progressive and almost invariably lethal disease of unknown cause. This review is timely as major advances in our understanding of disease pathobiology and improvements in molecular techniques have recently led to the identification of potential surrogates of diagnosis, prognosis and response to treatment.

Recent Findings: The most promising and advanced candidate biomarkers are presented based on their proposed mechanistic pathways (e. Read More

Ann Am Thorac Soc 2015 Mar;12 Suppl 1:S16-20

Centre for Inflammation and Tissue Repair, University College London, London, United Kingdom.

The challenge facing many fibrotic lung diseases is that these conditions usually present late, often after several decades of repetitive alveolar epithelial injury, during which functional alveolar units are gradually obliterated and replaced with nonfunctional connective tissue. The resulting fibrosis is often progressive and, in the case of idiopathic pulmonary fibrosis (IPF), invariably leads to respiratory insufficiency and, ultimately, the premature death of affected individuals. Recent years have seen a greater appreciation of the relative importance of chronic inflammation as a driver of fibrotic responses. Read More

Fibrogenesis Tissue Repair 2015 26;8. Epub 2015 Mar 26.

Department of Infection, Immunity and Inflammation, Institute for Lung Health, University of Leicester, Glenfield Hospital, Groby Road, Leicester, LE3 9QP UK.

Background: Idiopathic pulmonary fibrosis (IPF) is a common and invariably lethal interstitial lung disease with poorly effective therapy. Blockade of the K(+) channel KCa3.1 reduces constitutive α-SMA and Smad2/3 nuclear translocation in IPF-derived human lung myofibroblasts (HLMFs), and inhibits several transforming growth factor beta 1 (TGFβ1)-dependent cell processes. Read More

Drug Discov Today 2015 May 19;20(5):514-24. Epub 2015 Jan 19.

Division of Pulmonary, Critical Care Medicine, Sleep and Allergy, Department of Medicine, University of California, San Francisco, CA, USA.

Idiopathic pulmonary fibrosis (IPF) is a progressive and almost invariably lethal disease that affects primarily older adults. After a decade of negative (or inconsistent) results, two recent clinical trials have demonstrated that slowing disease progression with medication is possible. An improved understanding of disease pathogenesis, epidemiology, and diagnostic criteria has been key to this success. Read More

Expert Opin Ther Targets 2015 Apr 22;19(4):507-14. Epub 2014 Dec 22.

University College Dublin, Conway Institute of Biomolecular and Biomedical Research, College of Life Sciences, School of Medicine and Medical Science , Belfield, Dublin , Ireland.

Introduction: Idiopathic pulmonary fibrosis (IPF) is a disease of the lung parenchyma that is invariably fatal with a median survival of 2 - 3 years. Despite considerable progress in defining the natural history of the disease, many features of IPF pathogenesis remain poorly understood. Several recent studies have highlighted links between pattern recognition receptors of innate immunity termed 'Toll-like receptors' (TLRs) and the aberrant fibrogenesis that characterizes IPF. Read More

Respir Res 2014 Dec 5;15:155. Epub 2014 Dec 5.

Background: Idiopathic pulmonary fibrosis is a common and invariably fatal disease with limited therapeutic options. Ca2+-activated KCa3.1 potassium channels play a key role in promoting TGFβ1 and bFGF-dependent profibrotic responses in human lung myofibroblasts (HLMFs). Read More

Transl Androl Urol 2014 Sep;3(3):251-4

1 Department of Urology, Taipei Veterans General Hospital, 2 Department of Urology, School of Medicine and Shu-Tien Urological Institute, National Yang-Ming University, Taipei City 11217, Taiwan.

Randall's plaque is microscopically a plaque of calcium deposited in the interstitial tissue of the renal papilla. These plaques are thought to serve as a nidus for urinary stone formation. Large amounts of Randall's plaque are unique to idiopathic calcium oxalate stone formers. Read More

Presse Med 2014 Sep 11;43(9):945-56. Epub 2014 Aug 11.

Hospices civils de Lyon, hôpital Louis-Pradel, Centre national de référence des maladies pulmonaires rares, centre de compétences de l'hypertension pulmonaire, service de pneumologie, 69677 Lyon cedex, France; Université de Lyon, université Claude-Bernard - Lyon-1, INRA, UMR754, 69007 Lyon, France. Electronic address:

Pulmonary hypertension is frequent in advanced chronic respiratory diseases, with an estimated prevalence at the time of pulmonary transplantation of 30-50 % in idiopathic pulmonary fibrosis, 30-50 % in chronic obstructive pulmonary disease, 50 % in combined pulmonary fibrosis and emphysema, 75 % in sarcoidosis, and more than 75 % of cases in pulmonary Langerhans cell histiocytosis. Histologic features include varying degrees of pulmonary arterial remodeling (prominent), vascular rarefaction (emphysema), fibrosis or specific involvement of the pulmonary arteries (idiopathic pulmonary fibrosis, sarcoidosis, lymphangioleiomyomatosis, pulmonary Langerhans cell histiocytosis), in situ thrombosis, and frequently associated involvement of the pulmonary veins (idiopathic pulmonary fibrosis, sarcoidosis). Pulmonary hypertension is usually detected using echocardiography with Doppler, however right heart catheterisation is required to confirm precapillary pulmonary hypertension defined by pulmonary artery pressure ≥ 25 mm Hg, with pulmonary artery wedge pressure ≤ 15 mm Hg. Read More