Aims and Scope

Open Medicine Journal is an open access online journal which publishes research articles, reviews/mini-reviews, letters and guest edited thematic issues in all areas of medicine. The journal encourages submissions related to the various basic and applied fields of medicine including but not limited to:

  • Angiology/Vascular Medicine
  • Cardiology
  • Critical care medicine
  • Endocrinology
  • Gastroenterology
  • Geriatrics
  • Hematology
  • Hepatology
  • Infectious disease
  • Nephrology
  • Neurology
  • Nuclear Medicine
  • Oncology
  • Pediatrics
  • Respiratory medicine
  • Rheumatology
  • Sports Medicine
  • Pharmacoeconomics and Health Economics
  • Surgery
  • Urology


Open Medicine Journal, a peer-reviewed journal, is an important and reliable source of current information on developments in the field. The emphasis will be on publishing quality papers rapidly and making them freely available to researchers worldwide.


Recent Articles

Urinary Retention Secondary to Colpocleisis: A Case Report

Elena Soto-Vega, Yunam Cuan-Baltazar, Arturo García-Mora, Carlos Arroyo

Introduction:

Pelvic Organ Prolapse (POP) is common in older women, and depending on its extent, it is conservative or surgically treated. Colpocleisis is a technique for POP treatment, in which the vaginal canal is closed, entirely or partially, in order to avoid the protrusion of the pelvic structures, with preservation of the urethral meatus in order to preserve normal micturition.

Clinical Case:

We present a case of a 61-year old woman, who 8 years after a colpocleisis, progressed to urinary retention associated with the progressive scarring of the labia, causing the obstruction of the urethral meatus. The patient underwent a labiaplasty with anterior colpoperineoplasty, with complete normalization of her micturition and sexual activity.

Conclusion:

Long term urinary retention complication has not been previously reported in the literature and should be included as a possible adverse event after colpocleisis.


August 24, 2021
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Editor's Choice

Early-onset of Frontotemporal Dementia and Amyotrophic Lateral Sclerosis in an Albanian Patient with a c.1319C>T Variant in the UBQLN2 Gene

Mirko Baglivo, Elena Manara, Natale Capodicasa, Paolo Enrico Maltese, Liborio Stuppia, Sandro Michelini, Rita Compagna, Bruno Amato, Matteo Bertelli

Background:

Frontotemporal Dementia (FTD) is the second most common cause of dementia under 65 years of age; it has a prevalence of 4-15 per 100,000 persons. The overt disease usually manifests in the sixth decade, and it is extremely rare to find affected patients in their twenties.

Objective:

Here, we present the clinical and molecular genetic findings of an Albanian family with a patient with early-onset FTD and Amyotrophic Lateral Sclerosis (ALS).

Methods:

Given the great variability of clinical presentation of FTD and the number of genes involved, targeted Next Generation Sequencing (NGS) was used to screen the DNA of the 27-year-old male patient. Segregation analysis was performed in available family members.

Results and Discussion:

A variant, consisting of a proline-leucine amino acid substitution in position 440, was identified in the UBQLN2 gene on the X-chromosome. This variant was previously reported as a variant of unknown significance in a 30-year-old female patient with amyotrophic lateral sclerosis. With the description of our case, we add evidence on its involvement, also in ALS-FTD. The variant is in a functional domain important for interaction with HSP70 and this, in turn, may impair the shuttling of proteins to the proteasome leading to an accumulation of protein aggregates. The variant was inherited from the unaffected mother, in line with the fact that incomplete penetrance has been widely described for this gene.

Conclusion:

The present report adds information regarding one of 34 variants in the UBQLN2 gene reported so far in association with neurodegeneration and proposes a molecular pathogenesis of ALS-FTD in this patient.


August 25, 2020
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