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
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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
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    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
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    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
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    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 DO, 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
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    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
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    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
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