Amyloidosis is characterized by amyloid extracellular deposition in organs and tissues. Pulmonary involvement is a rare manifestation of the disease and it can be focal or as part of systemic amyloidosis. We report two cases. Case 1: 71 year-old female with bronchiectasis and Sjogrenâ syndrome, who complained of anorexia, weight loss and a productive cough. The diagnostic study included a surgical lung biopsy and histological examination demonstrated pulmonary amyloidosis. Case 2: 83 year-old male patient, ex-smoker, asymptomatic, whose routine chest x-ray showed a nodular opacity in the right lung field. A transthoracic biopsy revealed an amyloid lung tumor. These cases illustrate a rare disease which in Case 1 also coexisted with Sjögrenâs syndrome and bronchiectasis. The most important differential diagnosis is cancer and so a definitive diagnosis is essential, as amyloidosis is usually benign and indolent.
Download full-text PDF |
Source |
---|
Asian J Endosc Surg
January 2025
Department of Surgery, Nishichita General Hospital, Tokai, Aichi, Japan.
Fistulization involving both the sigmoid colon and urachus is exceedingly rare. While previous cases have often necessitated laparotomy due to the involvement of multiple organs, only one instance of successful laparoscopic surgery has been reported. Here, we present the second documented case of laparoscopic resection of a sigmoid-urachal fistula.
View Article and Find Full Text PDFMol Genet Genomic Med
February 2025
Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain.
Background: Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4-year-old boy presenting with psychomotor regression, spasticity, and dystonic postures.
Methods And Results: Trio-based whole exome sequencing revealed two previously unreported loss-of-function variants in the FUCA1 gene.
J Cardiothorac Surg
January 2025
Institute of Cardiovascular and Thoracic Surgery, Madras Medical College, Chennai, India.
Background: Penetrating neck injuries are rare and require urgent surgical intervention to prevent life-threatening complications. This report highlights a unique case involving complex surgical repair of tracheal, esophageal, and vascular injuries following a homicidal assault, emphasizing the challenges and techniques used in managing such severe trauma.
Case Presentation: A 45-year-old female presented with a severe penetrating neck injury after an alleged homicidal assault with a knife.
J Cardiothorac Surg
January 2025
Echocardiography and Vascular Ultrasound Center, The First Affiliated Hospital, Zhejiang University School of Medicine, 79 Qingchun Road, Hangzhou, 310003, China.
Background: Interventricular septal dissection is a critical disease characterized by the separation of the intraventricular septum into two layers, forming an intermediate layer with a cystic cavity that communicates with the root of the aorta or ventricle. It has low morbidity and high mortality rates.
Case Presentation: Case 1: A 58-year-old male with a history of hypertension and smoking presented to a local hospital due to chest tightness and pain for 4 days.
BMC Rheumatol
January 2025
Department of Rheumatology, Overton Brooks VA Medical Center, Shreveport, LA, USA.
Background: Dermatomyositis is a chronic inflammatory condition affecting muscles and skin, often associated with an increased risk of cancer. Specific autoantibodies, including anti-TIF1 (Transcription Intermediary Factor 1), have been linked to this risk. We present a case of dermatomyositis in a male patient positive for anti-TIF1 antibodies, subsequently diagnosed with squamous cell carcinoma of the tonsil, a novel association not previously documented.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!