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Frank's Sign: A Link Between Dermatovenerology, Cardiac Pathology, and Neurology.
Acta Dermatovenerol Croat
November 2023
Asst. Prof. Denis Čerimagić, MD, PhD, Polyclinic Glavić, Ulica Ćira Carića 3, 20000 Dubrovnik, Croatia;
Dear Editor, Although some of my colleagues may find this surprising, as a neurologist, I have noticed many connections between dermatology and neurology. Neurological and dermatological signs and symptoms are common in many clinical entities, especially in the so-called phakomatoses or neurocutaneous syndromes (Von Recklinghausen's disease type 1 and 2, Bourneville-Pringle syndrome, Sturge-Weber syndrome, Von Hippel-Lindau syndrome, Louis-Bar syndrome) (1). The terms "neurodermatitis" and "neurodermatology" also confirm the above.
View Article and Find Full Text PDFLung cancer is a disease with a unique genetic pattern and is occasionally related to hereditary syndromes such as Lynch, Louis-Bar, and Li-Fraumeni. In some patients, germinal mutations may be discovered in combination with somatic alterations. For instance, Li-Fraumeni syndrome often reveals a mixture of and mutations.
View Article and Find Full Text PDFSevere Acute Respiratory Distress Syndrome (ARDS) or Severely Increased Chest Wall Elastance?
Cureus
February 2022
Department of Cardiology, Angiology, Haemostaseology and Medical Intensive Care, University Medical Center Mannheim, Mannheim, DEU.
Esophageal manometry can be used to calculate transpulmonary pressures and optimize ventilator settings accordingly. We present the case of a 31-year-old male patient with ataxia-telangiectasia (Louis-Bar syndrome) and a BMI of 20 kg/m, admitted to our intensive care unit for coronavirus disease 2019 (COVID-19) pneumonia. The patient soon required mechanical ventilation; however, there was very poor respiratory system compliance.
View Article and Find Full Text PDFPatient with ataxia telangiectasia undergoing elective staging laparoscopy: A case report and literature review.
J Pak Med Assoc
November 2021
Department of Anaesthesia, Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan.
Ataxia telangiectasia is a rare autosomal recessive condition which develops due to a mutation in the ataxia telangiectasia mutated gene (ATM gene). As a result of this mutation, the ability of the DNA to undergo repair is undermined. The resulting cellular demise is responsible for the diverse presentation of the clinical condition.
View Article and Find Full Text PDFTwo Novel Mutations Associated With Ataxia-Telangiectasia Identified Using an Ion AmpliSeq Inherited Disease Panel.
Front Neurol
October 2017
Research Center for Obstetrics, Gynecology and Perinatology, Moscow, Russia.
Ataxia-telangiectasia (A-T), or Louis-Bar syndrome, is a rare neurodegenerative disorder associated with immunodeficiency. For families with at least one affected child, timely A-T genotyping during any subsequent pregnancy allows the parents to make an informed decision about whether to continue to term when the fetus is affected. Mutations in the gene, which is 150 kb long, give rise to A-T; more than 600 pathogenic variants in have been characterized since 1990 and new mutations continue to be discovered annually.
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