COVID -19 Pandemic and Level of Responses in Bangladesh
Md Kariul Islam, MSS, MPH, Md Shukur Ali, PhD, SAM Ziaur Rahman Akanda, MSc, Shahnaz Rahman, BA, AHM Kamruzzaman, MBA, DBA, Sharif Abdul Kader Pavel, MPH and Jannatul Baki, MBA
Article Type: Review Article | First Published: August 24, 2020
Bangladesh is a South East Asian natural beautiful middle income country. Its economy is flourishing rapidly. In the last decade immense development has been noticed in every sphere of life including women empowerment. However, incidence of COVID-19 Pandemic has influenced every sector of Bangladesh badly. The area of Bangladesh is about 1,47,570s km and about 160 million people live here with peace and amity. Naturally, the density of population of this country is very high in comparing to some...
A Solution for the Treatment of a Neglected Subset of Rare Diseases
Grant E Fisher
Article Type: Position Statement | First Published: May 07, 2020
Individual HRDs are made up of small patient populations, thus the high individual prices will amount to a relatively small total cost to insurers and the healthcare system overall. Treatments for HRDs will, in almost all cases, represent the first and only available treatments. As the collective price will not be problematic and with treatments being the first available, insurers will have an incentive to cover the prices necessary to develop and commercialize these therapies....
Non-biopsy Diagnosis of Hereditary Transthyretin Amyloidosis Presented with Cardiomyopathy and Peripheral Neuropathy in a Chinese Man in Hong Kong
Mei Han Ho, MBBS, MRes (Med), MRCP, Pui Lun Yip, MB, ChB, FHKAM (Med), Cheuk Bong Ho, MBBS, MRCP, Felix Chi Kin Wong, MBBS, MHKC (Path), Sammy Pak Lam Chen, FRCPA, FHKAM (Pathology) and Chi Yuen Wong, FHKCP, FHKAM (Med)
Article Type: Case Report | First Published: May 16, 2020
Amyloidosis is a rare disease characterized by deposition of misfolded amyloid protein, which commonly affects myocardium, nerves, kidneys and various organs. The clinical presentation is highly variable. We herein describe, to our knowledge, the first case of a Chinese man with hereditary transthyretin related cardiac amyloidosis (ATTR) with Ala117Ser mutation in Hong Kong who presented with peripheral neuropathy and congestive heart failure. Echocardiography showed left ventricular hypertrophy...
Rare Diseases in Mediaeval Europe
Article Type: Review Article | First Published: March 28, 2020
Monastic rules made an end to infanticide and child neglect in the Middle-Ages by caring for children with (rare) disorders: Disabled and impaired citizens became part of daily life. Historic, paleo-pathological, iconographic and genetic research revealed several cases of acromegaly, achondroplasia, alpha-1-antitrypsin deficiency, cystic fibrosis, Down syndrome, Dupuytren’s contraction, goiter, Marfan syndrome, Paget’s disease and phenylketonuria. These observations want to illustrate that d...
Case Series Synopsis: Gaucher Disease Type 1 Patients Treated with Eliglustat over 6 Years
Cristina Fraga, Sonia Medeiros, Sara Serpa and David Silva
Article Type: Case Series | First Published: January 08, 2020
Gaucher disease (GD) type 1 is a lysosomal storage disorder associated with bone disease, hepatosplenomegaly, anemia and thrombocytopenia. Here we present a case series from 5 (3 females and 2 males) Portuguese individuals from a single institution with GD type 1 who were treated with substrate-reduction therapy (eliglustat, 84 mg once or twice daily) for 6-years. Four cases were switched from IV imiglucerase (28 U/kg q2 week [n = 1]) or 45 U/kg q2 week [n = 3]) and one was enzyme-replacement th...