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Gitelman syndrome with diabetes and kidney stones: A case report.
Medicine (Baltimore)
January 2025
The Department of Clinical Laboratory, Zhejiang Hospital, Hangzhou, China.
Rationale: Gitelman syndrome (GS) is a rare hereditary electrolyte disorder caused by mutations in the SLC12A3 gene. There is limited literature on the role of hydrochlorothiazide (HCT) testing and the SLC12A3 single heterozygous mutation in the diagnosis and management of patients with GS. In addition, cases of GS with concomitant kidney stones are rare.
View Article and Find Full Text PDFEvaluation of Clinical Outcomes and Quality of Life following the Karydakis Flap Procedure for Pilonidal Sinus Treatment.
Adv Skin Wound Care
January 2025
At the Department of Plastic, Reconstructive and Hand Surgery, Center for Severe Burn Injuries, Paracelsus Medical University, Klinikum Nürnberg, Germany, David Breidung, MD, is Resident, and Moritz Billner, MD, is Attending Physician. Philipp Buben, MD, is Resident, Department for Plastic and Reconstructive Surgery, Burn Unit, BG Kliniken Bergmannstrost, Germany. Gerrit Grieb, MD, PhD, is Head of Department, Department of Plastic Surgery and Hand Surgery, Gemeinschaftskrankenhaus Havelhoehe, Germany. Also in the Department of Plastic, Reconstructive and Hand Surgery, Center for Severe Burn Injuries, Paracelsus Medical University, Klinikum Nürnberg, Reiner Sievers, MD, is Attending Physician; Bert Reichert, MD, is Professor and Head of Department; Ioannis-Fivos Megas, MD, is past Chief Resident; and André A. Barth, MD, is Chief Resident.
Objective: To evaluate the clinical outcome of the Karydakis flap procedure performed by a single surgeon for the treatment of pilonidal sinus, focusing on postoperative complications, recurrence rate, wound healing time, and return to daily life.
Methods: Authors performed a retrospective data analysis of patients who underwent reconstruction of pilonidal sinus using the Karydakis technique at the Department of Plastic, Reconstructive and Hand Surgery, Center for Severe Burn Injuries of Paracelsus Medical University, Klinikum Nürnberg, Germany, between 2014 and 2021. All cases were performed by a single surgeon.
Effectiveness of surgical versus non-surgical interventions in treatment of digital mucous cysts.
Arch Dermatol Res
January 2025
Department of Dermatology, Oregon Health & Science University, 3303 S Bond Ave Building 1, 16th floor, Portland, OR, 97239, USA.
Siblings With Berardinelli-Seip Congenital Lipodystrophy: Clinical Insights and Challenges.
Cureus
December 2024
Pharmacy, Punjab University College of Pharmacy, Lahore, PAK.
Berardinelli-Seip congenital lipodystrophy (BSCL), also known as congenital generalized lipodystrophy (CGL), is an exceptionally rare autosomal recessive disorder marked by a significant deficiency of adipose tissue throughout the body. This lack of adipose tissue, normally found beneath the skin and between internal organs, leads to impaired adipocyte formation and fat storage, causing lipids to accumulate in atypical tissues such as muscles and the liver. The extent of adipose tissue loss directly influences the severity of symptoms, which can include a muscular appearance, increased appetite, bone cysts, marrow fat depletion, acromegalic features, severe insulin resistance, skeletal muscle hypertrophy, hypertrophic cardiomyopathy, hepatic steatosis, hepatomegaly, cirrhosis, and intellectual disability.
View Article and Find Full Text PDFLemierre's Syndrome in a 16-Year-Old Man Associated with Resolution of Marked Widespread St Elevation and a Normal Troponin Level.
Eur J Case Rep Intern Med
December 2024
Respiratory Department, Barnsley District General Hospital, Barnsley, UK.
Unlabelled: A 16-year-old man presented to the Accident and Emergence services with a 10-day history of shortness of breath, sore throat, vomiting, diarrhoea, poor oral intake, chest pain, jaundice, diplopia and reduced urine output. He was initially treated for sepsis, however, subsequent imaging and blood cultures confirmed the diagnosis of Lemierre's syndrome (LS). LS, also known as necrobacillosis or post-pharyngitis anaerobic septicaemia is comprised of a triad of metastatic septic emboli secondary to pharyngitis, bacteraemia, and internal jugular vein thrombophlebitis.
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