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ISSN: 2640-7876

Global Journal of Rare Diseases

    Volume - 5 (10)
    mendeley

    A Review on Psychological and Socio-Economic Impacts of Corona Virus Disease (Covid-19) The Case of Under Developing Countries

    DOI Logo 10.17352/2640-7876.000028

    Published On: November 20, 2020 | Pages: 036 - 039

    Author(s): Desalegn Wondim Alene*
    A history signifies that there were different pandemic diseases across the globe at different times that brings a fundamental consequence in psychological, socio-economic and political situations. Evidences showed that most emergency diseases were geographically restricted while others were/are not that attracts the professionals in developing insight and taking cross ... CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate Academic Microsoft GrowKudos Universite de Paris UW Libraries SJSU King Library SJSU King Library NUS Library McGill DET KGL BIBLiOTEK JCU Discovery Universidad De Lima WorldCat VU on WorldCat
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    mendeley

    Mitochondrial disease, hypertrophic cardiomyopathy and cutaneous lupus in an infant with food hypersensitivity

    DOI Logo 10.17352/2640-7876.000027

    Published On: November 04, 2020 | Pages: 030 - 035

    Author(s): E Estrada-Reyes*, D Lopez-Gallegos, E Faugier-Fuentes, M Pardo-Castañeda, E Barragán- Perez, I Nuñez-Barrera, M Sanchez-Ruiz, S Nuñez-Barrera and G Ramon-Garcia
    This paper describes a 4 month-old-girl with food allergies, mitochondrial disease, cutaneous lupus, and hypertrophic cardiomyopathy. She suffered from infectious pericarditis due to Coxsakie virus as a complication. She additionally presented bicytopenia (hemoglobin levels 8.9 g/dL, platelets 127 x 103 / µL), high lactate levels (5mmol/L), seizures, hypertrophic card ... CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate Academic Microsoft GrowKudos Universite de Paris UW Libraries SJSU King Library SJSU King Library NUS Library McGill DET KGL BIBLiOTEK JCU Discovery Universidad De Lima WorldCat VU on WorldCat
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    mendeley

    A multidisciplinary clinic for Filipino patients with skeletal dysplasia: Opportunities and Challenges

    DOI Logo 10.17352/2640-7876.000026

    Published On: October 24, 2020 | Pages: 027 - 029

    Author(s): Maria Melanie Liberty B Alcausin, Ebner Bon G Maceda*, Gracia Cielo E Balce, Joycie Eulah H Abiera and Maria Glorian B Tomen
    Purpose: Skeletal dysplasias comprise a heterogenous group of genetic disorders that have generalized abnormalities in cartilage and bone. Although individually rare, collectively it is common with an estimate of 1 in 2000 to 3000. Individuals with skeletal dysplasias are known to be at risk for a myriad of medical complications associated with their conditions; hence ... CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate Academic Microsoft GrowKudos Universite de Paris UW Libraries SJSU King Library SJSU King Library NUS Library McGill DET KGL BIBLiOTEK JCU Discovery Universidad De Lima WorldCat VU on WorldCat
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    mendeley

    Temporary improvement of motor symptoms of a patient with Parkinson’s disease after accidental electric shock - Case report

    DOI Logo 10.17352/2640-7876.000025

    Published On: September 09, 2020 | Pages: 025 - 026

    Author(s): Antônio Marcos Da Silva Catharino, Kattiucy Gabrielle Da Silva Brito, Edarlan Barbosa Dos Santos, Gilberto Canedo Martins and Marco Antonio Orsini Neves
    Despite parkinson’s disease to be one of the most frequent movement disorders, with motor and non-motor symptoms and pharmacological and surgical treatments, we present a case of temporary improvement of motor symptoms after an accidental electric shock and we highlight the need for furthrer studies to discuss possible mechanisms involved in this case. ... CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate Academic Microsoft GrowKudos Universite de Paris UW Libraries SJSU King Library SJSU King Library NUS Library McGill DET KGL BIBLiOTEK JCU Discovery Universidad De Lima WorldCat VU on WorldCat
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    mendeley

    Duane-Radial Ray syndrome a SALL4-Related Disorder. Report of a case in Chile

    DOI Logo 10.17352/2640-7876.000024

    Published On: September 07, 2020 | Pages: 022 - 024

    Author(s): Jonathan Huserman* and Catherine Diaz
    The Duane-Radial Ray syndrome or Okihiro syndrome belongs to the SALL4-Related Disorders, a phenotypic spectrum, that additionally includes, acrorenoocular syndrome and Holt-Oram syndrome, caused by the alteration of the same gene, which has significant relevance in the mesoderm, the limbs, and the heart development. These syndromes are characterized by thumb alterati ... CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate Academic Microsoft GrowKudos Universite de Paris UW Libraries SJSU King Library SJSU King Library NUS Library McGill DET KGL BIBLiOTEK JCU Discovery Universidad De Lima WorldCat VU on WorldCat
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    mendeley

    Double homozygous Cystic Fibrosis Transmembrane Regulator gene (CFTR) mutation: A case series and review of the literature

    DOI Logo 10.17352/2640-7876.000023

    Published On: August 18, 2020 | Pages: 015 - 021

    Author(s): Hanaa Banjar*, Wesam Alkassas, Firas Ghomraoui, Reem Ghomraoui and Nabil Moghrabi
    Introduction: Double homozygous mutation with the presence of double mutations in each allele is a very rare phenomenon with only 2 reports that have described this phenomenon in the medical literature. Objective: To find the prevalence of double homozygous in our Cf population and to describe their mutations and review of the literature in this phenomenon. Methodol ... CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate Academic Microsoft GrowKudos Universite de Paris UW Libraries SJSU King Library SJSU King Library NUS Library McGill DET KGL BIBLiOTEK JCU Discovery Universidad De Lima WorldCat VU on WorldCat
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    mendeley

    Intrahepatic Cholangiocarcinoma Skin Metastasis in a Patient with Hidradenitis Suppurativa: A Rare Entity

    DOI Logo 10.17352/2640-7876.000022

    Published On: April 24, 2020 | Pages: 010 - 014

    Author(s): Ali Y Fakhreddine*, Theresa Yang, Guanghong Liao and Bahman Chavoshan
    We present a challenging diagnosis of disseminated intrahepatic cholangiocarcinoma presenting with perineal cutaneous masses in a young African American male with known hidradenitis suppurativa. The patient was a 39-year-old male who presented to the emergency department with difficulty walking due to severe gluteal swelling and pain. The patient had an 18-month histo ... CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate Academic Microsoft GrowKudos Universite de Paris UW Libraries SJSU King Library SJSU King Library NUS Library McGill DET KGL BIBLiOTEK JCU Discovery Universidad De Lima WorldCat VU on WorldCat
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    mendeley

    Hematuria in a Patient with Non-malignant Bladder Nodules

    DOI Logo 10.17352/2640-7876.000021

    Published On: April 13, 2020 | Pages: 007 - 009

    Author(s): Terese S Bergheim, Visal Nga, Andrew C Burg and Bahman Chavoshan*
    Introduction: Gross hematuria in adults with resultant anemia is highly concerning for genitourinary malignancy. However, in rare instances, malakoplakia can mimic such malignancy. Malakoplakia is a benign granulomatous condition with malfunction of the phagolysosomal activity of macrophages and monocytes. This leads to formation of foamy histocytes with intracytopla ... CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate Academic Microsoft GrowKudos Universite de Paris UW Libraries SJSU King Library SJSU King Library NUS Library McGill DET KGL BIBLiOTEK JCU Discovery Universidad De Lima WorldCat VU on WorldCat
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    mendeley

    Cutis marmorata telangiectasia congenita-a needle in the neonatal dermatology haystack?

    DOI Logo 10.17352/2640-7876.000020

    Published On: April 03, 2020 | Pages: 004 - 006

    Author(s): Hassan Shakeel* and Ather Ahmed
    Cutis Marmorata Telangiectasia Congenita (CMTC, also known as van Lohuizen syndrome) is a rare disorder characterised by dilatation of the cutaneous vasculature. This results in a blue-purple ‘marbled’ appearance of the skin due to telangiectasia, phlebectasia and persistent cutis marmorata. It is often mistaken for benign cutis marmorata and is therefore likely under ... CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate Academic Microsoft GrowKudos Universite de Paris UW Libraries SJSU King Library SJSU King Library NUS Library McGill DET KGL BIBLiOTEK JCU Discovery Universidad De Lima WorldCat VU on WorldCat
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    mendeley

    The case number 52 of Ruprecht Majewski-Bosma syndrome associated with atrial septal defect

    DOI Logo 10.17352/2640-7876.000019

    Published On: February 28, 2020 | Pages: 001 - 003

    Author(s): Aamir Jalal Al Mosawi*
    Background: Ruprecht Majewski-Bosma syndrome is an extremely rare dysmorphic syndrome results from severe hypoplasia of the nose and eyes occurring in association with palatal abnormalities. It is characterized by congenital complete nasal agenesis (Bilateral aplasia of the nose), microphthalmia including clinical anophthalmia, hypertelorism and other eye defects, hig ... CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate Academic Microsoft GrowKudos Universite de Paris UW Libraries SJSU King Library SJSU King Library NUS Library McGill DET KGL BIBLiOTEK JCU Discovery Universidad De Lima WorldCat VU on WorldCat
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    Indexing/Archiving

    Editor-in-Chief

    Erich Cosmi
    University of Padua, Italy
    Journal of Gynecological Research and Obstetrics
    Hermis Iatrou
    University of Athens, Greece
    Open Journal of Chemistry
    Giulio Perrotta
    Marche Polytechnic University - School of Medicine and Surgery (UNIVPM, Ancona - Italy); Istituto per lo studio delle psicoterapie (ISP, Rome - Italy). , Italy
    Open Journal of Trauma
    Manuel Jose Lis Arias
    Polytechnic University of Catalonia, Spain
    Archive of Biochemistry
    Francesco Marotta
    ReGenera R&D International for Aging Intervention & San Babila Clinic, Milano, Italy
    Archives of Clinical Gastroenterology
    Stavros Dimopoulos
    University of Athens, Greece
    Journal of Novel Physiotherapy and Physical Rehabilitation
    Dr. Pierre Guertin
    Laval University, Canada
    Archive of Gerontology and Geriatrics Research
    Malgorzata Gabriela WASNIEWSKA
    University of Messina, Italy
    International Journal of Clinical Endocrinology and Metabolism
    Dong Zhao
    China University of Political Science and Law, China
    Forensic Science Today
    Kwang-Hyun Baek
    Yeungnam University, Korea
    International Journal of Immunotherapy and Cancer Research

    NIH Funded Articles

    How Anterior Cruciate Ligament Injury was averted during Knee Collapse in a NBA Point Guard Significance of Cancer Stem Cells in Anti-Cancer Therapies Endothelial Progenitor Cells in Breast Cancer Intranuclear inclusions in conventional clear cell Renal Cell Carcinoma (RCC): A case report and review of the literature Hepatitis B Vaccination Rate in Patients with Diabetes: Assessment of Racial and Socioeconomic Disparity Buprenorphine Maintenance for Opioid Dependence in Public Sector Healthcare: Benefits and Barriers Validity of Ratings of Perceived Exertion in Patients with Type 2 Diabetes Diabetic Retinopathy: Focus on Minority Populations Neural Response During a Mechanically Assisted Spinal Manipulation in an Animal Model: A Pilot Study Variation among gari samples of some yellow cassava (Manihot esculenta Crantz) varieties for change in color during storage

    Research Articles

    Which Pain Rehabilitation Programme Should Patients With Chronic Back Pain Attend? - A Practical Example of a Service Evaluation Based Upon Implementing Research Findings into Clinical Practice
    September 08, 2014    Efficacy of Probiotic and Nitrifier Bacterial Consortium for the Enhancement of Litopenaeus Vannamei Aquaculture
    January 02, 2016    Prevalence of Hepatitis B, Hepatitis C, HIV and Malaria Co Infection among Patients Infected with Visceral Leishmaniasis in Gedarif, Eastern Sudan
    October 12, 2016

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