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Challenges in the Diagnosis and Management of Renal Cell Carcinoma With Sarcomatoid Differentiation: A Case Report.
Cureus
November 2024
Department of Internal Medicine, Merit Health Wesley, Hattiesburg, USA.
Metastatic sarcomatoid renal cell carcinoma (sRCC) is a significant therapeutic and diagnostic challenge due to its rarity and aggressiveness, which contribute to its poor prognosis. This case report presents the case of a 47-year-old Caucasian man with shortness of breath and right-sided abdominal pain. History revealed an extensive smoking history, a left renal mass diagnosed two months ago with inconclusive results, and an enlarged mass on computed tomography (CT) scan one week ago in an emergency department (ED) visit that showed signs consistent with metastatic disease.
View Article and Find Full Text PDFDYNC2H1 splicing variants causing severe prenatal short-rib polydactyly syndrome and postnatal orofaciodigital syndrome.
Ann Hum Genet
January 2025
Genetics Service, São João Universitary Hospital Center, Porto, Portugal.
Article Synopsis
- The DYNC2H1 gene is linked to short-rib polydactyly syndrome (SRPS) and other skeletal ciliopathies, with two unique cases highlighting distinct phenotypes caused by splicing variants.
- The first case involved a 14-week-old fetus with severe malformations and two compound heterozygous variants that were initially uncertain but later deemed likely pathogenic after further testing.
- The second case presented an 11-year-old boy with various physical abnormalities and identified variants in DYNC2H1, underscoring the gene's role in conditions like SRPS and orofaciodigital syndrome, enhancing understanding of splicing variants' impacts.
Retrograde Lidocaine Spray for Awake Extubation in Pediatric ENT Surgery: Optimizing Tonsillectomy and Adenoidectomy Outcomes.
Cureus
August 2024
Anesthesiology, University of Texas Medical Branch, Galveston, USA.
Article Synopsis
- Laryngeal edema can cause serious airway obstruction, particularly in patients with inflammation of the epiglottis and vocal cords, making careful extubation important.
- Traditional deep extubation is preferred for comfort and to reduce laryngeal edema risk, but cases of difficult mask ventilation (DMV) might require awake extubation.
- In a case involving a child with obstructive sleep apnea who was at high risk for laryngeal edema, a retrograde lidocaine spray was used to numb the airway and facilitate a smoother awake extubation while minimizing coughing.
Unveiling the Spectrum of Otorhinolaryngological Manifestations in Siblings With Bardet-Biedl Syndrome: A Report of Two Cases.
Cureus
August 2024
Otolaryngology - Head and Neck Surgery, Mahatma Gandhi Medical College and Research Institute, Pondicherry, IND.
Article Synopsis
- - Bardet-Biedl syndrome (BBS) is a rare genetic disorder that affects multiple systems in the body and presents unique difficulties, particularly in ear, nose, and throat (ENT) care for affected children.
- - Two sibling cases are discussed: the older child faced complex surgical challenges due to obesity and anatomical issues, while the younger sibling had initial relief from surgery but later experienced recurring health issues related to adenoids, needing long-term monitoring.
- - The report highlights the importance of teamwork among medical professionals in managing the intricate symptoms of BBS and calls for ongoing research to improve treatment strategies for similar cases in the future.
Case report: An uncommon presentation of extramedullary plasmacytoma without a concurrent diagnosis of multiple myeloma.
Front Oncol
June 2024
Head and Neck Cancer Department, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.
Article Synopsis
- * The case study focuses on a 72-year-old male with swallowing difficulties and an EMP that didn't respond to radiation, but diagnosis excluded multiple myeloma.
- * Successful treatment involved surgical removal of the EMP, followed by systemic therapy, leading to the patient's complete recovery and effective disease management.
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