Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.4103/neurol-india.Neurol-India-D-24-00296 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Refining the genetic diagnostic puzzle: A case report on a Chinese ARPKD patient with a reciprocal balanced translocation and c.2507 T > C (p.V836A) in PKHD1.
Nephrology (Carlton)
December 2024
Tianjin University Children's Hospital, Tianjin, China.
Introduction: Autosomal recessive polycystic kidney disease (ARPKD) ranks among the most severe chronic kidney diseases (CKD). Its primary cause is variants in the Polycystic Kidney and Hepatic Disease 1 gene (PKHD1). The clinical spectrum of ARPKD varies widely, ranging from mild late-onset symptoms to severe perinatal mortality.
View Article and Find Full Text PDFRemoval of leads broken during extraction: A comparison of different approaches and tools.
J Cardiovasc Electrophysiol
October 2024
Department of Cardiology, The Pope John Paul II Province Hospital, Zamość, Poland.
Background: Extraction of a broken lead fragment (BLF) has received scant attention in the literature.
Methods: Retrospective analysis was to compare the effectiveness of different approaches and tools used for BLF removal during 127 procedures.
Results: A superior approach was the most popular (75.
Integrated multi-omics approach revealed TTNtv c.13254T>G causing dilated cardiomyopathy in mice.
PLoS One
October 2024
Division of Cardiac Surgery & Wuhan Clinical Research Center for Cardiomyopathy, Wuhan Asia Heart Hospital Affiliated with Wuhan University of Science and Technology, Wuhan, Hubei, P.R. China.
Titin-truncating variant (TTNtv) is the most common genetic cause of dilated cardiomyopathy (DCM). In the previous study, we found a novel heterozygous TTNtv c.13254T>G (p.
View Article and Find Full Text PDFBreakage and detachment of the rigid cystoscope's distal tip: an unusual case of urological instrument malfunction.
Cent European J Urol
March 2024
1 Department of Urology, Aristotle University of Thessaloniki, School of Medicine, "G. Gennimatas" General Hospital, Thessaloniki, Greece.
Herein, we describe an unusual case of cystoscope damage during a planned laser cystolithotripsy in a 65-year-old male with a previous history of radical prostatectomy for prostate cancer and subsequent serial urethral dilations for bladder neck contracture. Upon crossing the penile urethra without exerting significant pressure, we noticed the cystoscope's distal metallic tip detachment. Therefore, we re-introduced another 22Fr cystoscope and removed the broken part with alligator forceps.
View Article and Find Full Text PDFSuccessful treatment of tracheal stenosis due to a broken uncovered metallic stent placed over 20 years ago in a patient with recurrent polychondritis using argon plasma coagulation and airway ballooning.
Respirol Case Rep
September 2024
Department of Respiratory Medicine NHO Okayama Medical Center Okayama Japan.
Article Synopsis
- A 65-year-old woman with recurrent polychondritis was hospitalized for airway narrowing caused by a fractured metallic stent.
- She underwent a bronchoscopic procedure where the stent was cauterized using Argon Plasma Coagulation (APC) to improve the airway.
- The procedure was successful, with the airway ballooning allowing clear passage through the trachea and main bronchi, and no complications were reported.
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!