Hypercalcemia in a bodybuilder with cosmetic silicone injections.
We present a case of a 35-year-old Caucasian male bodybuilder with multiple silicone injections in his upper extremities who developed hypercalcemia and urinary symptoms. He necessitated two sessions of dialysis. A biopsy of the upper arm showed granulomatous tissue. Corticosteroids were administered to relieve symptoms and reverse laboratory abnormalities. Silicone-induced hypercalcemia should be on high alert because of the increasing trend of body contour enhancements with injections, implants and fillers. PMID: 29649200 [PubMed - in process]
Pemphigus vulgaris (PV) is a complex, multifactorial, and polygenic disease, whose exact pathogenesis is difficult to pinpoint. Research aimed at further elucidating associated epidemiologic risk factors is hampered by its rare disease status. Further, a lack of centralization and standardization of available data makes the practical application of this information challenging. We comprehensively reviewed 90 PV articles from 26 different countries for parameters including age, sex, ethnicity, incidence, prevalence, and HLA allele association.
Scleromyxedema is a disease characterized by papular mucinous deposits, dermal fibroblast proliferation, and is associated with monoclonal paraproteinemia. Systemic manifestations can lead to significant morbidity and mortality. Being an extremely rare disease, its prevalence and clinical course are poorly reported. We sought to describe the characteristics of patients with scleromyxedema regarding clinical characteristics, psychological impact, therapeutic interventions, and course through anonymous online questionnaire.
Japan has taken measures for specially defined rare diseases, called Nan-Byo (difficult-illness) in Japanese since 1972. While this governmental support has benefited Nan-Byo patients, those suffering from unidentified conditions do not fall into the scheme and cannot receive subsidies nor chances for consultation. To identify such rare and often undiagnoseddiseases, we must integrate systematic diagnosis by medical experts through global data matching, thereby solving the Nof1 problem. Thus, AMED launched the Initiative on Rare and Undiagnosed Diseases (IRUD) to construct a holistic medical network utilizing the existing ...
Abstract: Idiopathic pulmonary fibrosis (IPF) is a rare disease characterized by decline in lung function, dyspnea, and cough. The clinical course of IPF is variable and unpredictable. Early referral to specialists is key to ensure timely and accurate diagnosis. Two antifibrotic drugs (nintedanib and pirfenidone) have been approved for the treatment of IPF.
Authors: Song SH, Shin JH, Ryu HJ, Kim DJ, Park SY Abstract Malignant gastrointestinal neuroectodermal tumor (GNET) is a very rare disease entity, especially in the esophagus. The diagnosis of GNET is based on histologic, immunohistochemical, and genetic findings. The choice of treatment is complete resection, and further treatment options can be considered. Herein, we describe a case of successful surgical treatment of a 23-year-old man with recurrent malignant esophageal GNET. PMID: 29662814 [PubMed]
Manidipam Chatterjee, Saikat Sengupta, Chandrashish Chakravarty, Suresh Ramasubban, Shilpa Bhartia, Sujoy Khan, Vikash Kumar AgarwalIndian Journal of Critical Care Medicine 2018 22(4):311-313Systemic mastocytosis is a rare disease due to abnormal proliferation of mast cells (MCs). A case of indolent systemic mastocytosis is presented here. After anesthetic induction for elective thyroid swelling with propofol and atracurium followed by endotracheal intubation, a 57-year-old female patient developed acute hypotension, sinus tachycardia, red rashes, increased airway pressure along with difficult ventilation, and desaturation...
The same compound that terminates pregnancies in the abortion pill is also approved to treat a rare hormonal disorder, and the manufacturer, Corcept charges more than double the price for it.
(University of Pennsylvania School of Medicine) Decreased HDL and ApoA-l levels in the general population are associated with an increased risk of death from cardiomyopathy and heart failure. Researchers found the FA patients had serum ApoA-I levels lower than healthy control subjects. In preclinical studies using cell models that mimicked liver cells of patients with the rare disease Friedreich's ataxia (FA), a widely used cholesterol-lowering drug increased a precursor of HDL (high-density lipoprotein), the " good cholesterol. "
To identify challenges that affect the feasibility and rigor of economic models in rare diseases and strategies that manufacturers have employed in health technology assessment submissions to demonstrate the value of new orphan products that have limited study data.
Clinically hypomyopathic dermatomyositis is a rare disease that is important to recognize, investigate and treat early as it is associated with poor prognosis. In a proportion of patients, myositis specific an...