Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2014.07.065DOI Listing

Publication Analysis

Top Keywords

report rare
4
rare mutation
4
mutation polish
4
polish patient
4
patient painful
4
painful late-onset
4
late-onset transthyretin
4
transthyretin amyloidosis
4
report
1
mutation
1

Similar Publications

Mini Atrial Septal Defect Closure In Dextrocardia With Situs Inversus By Left Anterolateral Thoracotomy(Lalt) Approach - A Surgical Challenge.

Port J Card Thorac Vasc Surg

January 2025

Department of Cardiovascular & Thoracic Surgery, U. N. Mehta Institute of Cardiology and Research Center, Civil Hospital Campus, Asarwa, Ahmedabad, Gujarat, India.

Background: ASD is a relatively rare subset among patients with situs inversus dextrocardia with concordant AV connection and a minimally invasive approach in dextrocardia has yet to be standardized. The present case describes a case surgical closure of ostium secundum ASD by left mini-thoracotomy approach in patient with dextrocardia and situs inversus.

Case Presentation: The present case describes a 44-year female patient of ostium secundum ASD in dextrocardia with situs inversus.

View Article and Find Full Text PDF

Otherwise, inoperable. The role of ECMO in thoracic surgery - focus on the mediastinum.

Port J Card Thorac Vasc Surg

January 2025

Thoracic surgeon, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.

The use of extracorporeal membrane oxygenation (ECMO) in surgery is expanding as the medical community started adopting it, with good results, for procedures with high risk of respiratory and hemodynamic instability. This technique provided the possibility to reduce the number of patients previously considered inoperable because of these limitations. Thymic epithelial tumors (TETs) are rare neoplastic mediastinal lesions, with a reported incidence of 0.

View Article and Find Full Text PDF

BACKGROUND Cleidocranial dysplasia (CCD) is a rare (1: 1 000 000) autosomal dominant congenital skeletal dysplasia characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. Only a minority of the cases are diagnosed early after birth. We present another case of proven CCD presenting with typical neonatal phenotype to promote awareness of this rare disorder.

View Article and Find Full Text PDF

Nevoid basal cell carcinoma syndrome (Gorlin syndrome): a case report.

J Med Case Rep

January 2025

Department of Dermatology and Venereology, Faculty of Medicine, University of Aleppo, Aleppo, Syria.

Background: Basal cell nevus syndrome, also known as Gorlin or Gorlin-Goltz syndrome, is a hereditary condition caused by mutation in the PATCHED gene. The syndrome presents with a wide range of clinical manifestations, including basal cell carcinomas, jaw cysts, and skeletal anomalies. Diagnosis is based on specific criteria, and treatment typically includes surgical removal of basal cell carcinomas.

View Article and Find Full Text PDF

Guillain-Barré syndrome following falciparum malaria infection: a case report.

BMC Neurol

January 2025

Department of Radiology, School of Medicine, College of Medicine and Health Sciences, Mizan-Tepi University, Mizan-Teferi, Ethiopia.

Background: Malaria is an infectious disease caused by Plasmodium parasites, transmitted to humans by infected female Anopheles mosquitoes. Five Plasmodium species infect humans: P. vivax, P.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!