You are currently viewing a new version of our website. To view the old version click .

Medicines, Volume 8, Issue 2

February 2021 - 6 articles

Cover Story: Infantile hypomyelinating leukoencephalopathy is associated with the homozygous variant (Cys4-to-Ser (C4S)) of the c11orf73 (also called hikeshi) gene. The C4S mutation of cytoplasmic and nuclear C11orf73 proteins leads to protein aggregation. The mutation localizes C11orf73 proteins to the lysosomes, where cytoskeletal Filamin A and C11orf73 proteins are unexpectedly co-localized. View this paper
  • Issues are regarded as officially published after their release is announced to the table of contents alert mailing list .
  • You may sign up for email alerts to receive table of contents of newly released issues.
  • PDF is the official format for papers published in both, html and pdf forms. To view the papers in pdf format, click on the "PDF Full-text" link, and use the free Adobe Reader to open them.

Articles (6)

  • Review
  • Open Access
11 Citations
6,186 Views
7 Pages

9 February 2021

Blood derived products have become a valuable source of tissue for the treatment of ocular surface diseases that are refractory to conventional treatments. These can be obtained from autologous or allogeneic sources (patient’s own blood or from healt...

  • Review
  • Open Access
19 Citations
9,697 Views
22 Pages

Sexually Transmitted Neisseria gonorrhoeae Infections—Update on Drug Treatment and Vaccine Development

  • Amber Jefferson,
  • Amanda Smith,
  • Pius S. Fasinu and
  • Dorothea K. Thompson

5 February 2021

Background: Sexually transmitted gonorrhea, caused by the Gram-negative diplococcus Neisseria gonorrhoeae, continues to be a serious global health challenge despite efforts to eradicate it. Multidrug resistance among clinical N. gonorrhoeae isolates...

  • Article
  • Open Access
21 Citations
11,637 Views
10 Pages

3 February 2021

Background: Stargardt Disease is the most common inherited macular degeneration, typically resulting in progressive central vision loss and legal blindness at an early age. We report regarding 34 eyes with Stargardt Disease treated in the Stem Cell O...

  • Article
  • Open Access
7 Citations
4,556 Views
13 Pages

Prevalence of Upper Extremity Musculoskeletal Disorders in Patients with Type 2 Diabetes in General Practice

  • Login Ahmed S. Alabdali,
  • Jasmien Jaeken,
  • Geert-Jan Dinant,
  • Marjan van den Akker,
  • Bjorn Winkens and
  • Ramon P. G. Ottenheijm

Background: One of the lesser recognized complications of diabetes mellitus are musculoskeletal (MSK) complications of the upper and lower extremity. No prevalence studies have been conducted in general practice. Thus, the aim of this study was to in...

  • Article
  • Open Access
9 Citations
4,709 Views
21 Pages

The Infantile Leukoencephalopathy-Associated Mutation of C11ORF73/HIKESHI Proteins Generates De Novo Interactive Activity with Filamin A, Inhibiting Oligodendroglial Cell Morphological Differentiation

  • Kohei Hattori,
  • Kenji Tago,
  • Shiori Memezawa,
  • Arisa Ochiai,
  • Sui Sawaguchi,
  • Yukino Kato,
  • Takanari Sato,
  • Kazuma Tomizuka,
  • Hiroaki Ooizumi and
  • Katsuya Ohbuchi
  • + 3 authors

Background: Genetic hypomyelinating diseases are a heterogeneous group of disorders involving the white matter. One infantile hypomyelinating leukoencephalopathy is associated with the homozygous variant (Cys4-to-Ser (C4S)) of the c11orf73 gene. Meth...

Get Alerted

Add your email address to receive forthcoming issues of this journal.

XFacebookLinkedIn
Medicines - ISSN 2305-6320