Medicine
-
Case Reports
Primary hyperoxaluria Type 1: A case report in an extended family with a novel AGXT gene mutation.
Primary hyperoxaluria type 1 (PH1) is a genetic autosomal recessively inherited disorder due to mutation in the alanine-glyoxylate aminotransferase (AGXT) gene. It usually presents in children with nephrolithiasis and/or nephrocalcinosis and progressive renal function impairment and end stage renal disease (ESRD). ⋯ High index of suspicion of PH1 before ESRD should be considered in any patient who has recurrent urolithiasis since early life especially in presence of strong family history.
-
Case Reports
Difficult extubation of a damaged neural integrity monitor electromyogram tracheal tube: A case report.
The purpose of a neural integrity monitor electromyogram (EMG) tracheal tube is to reduce the risk of damage to the recurrent laryngeal nerves. Complications associated with the use of EMG tube are ventilatory failure, tracheal injury, and difficult extubation. ⋯ Awareness of the characteristics and types of damage that can occur in an EMG tube is essential. Because it can be difficult to ascertain the type of damage before extubation, communication between the surgeon and anesthesiologist, along with the preparation for emergency airway management are necessary for cases of difficult extubation.
-
Intracystic papillary breast carcinoma is extremely rare in males with a favorable prognosis. Clinical and mammographic manifestations of IPC are not specific, and no consensus has been reached on its management. ⋯ It is difficult to diagnose IPC of the male breast before surgery, excisional biopsy is necessary. CEUS can be useful to diagnose IPC in male patients in the preoperative evaluation. Sentinel node biopsy may be considered in patients with IPC associated with DCIS or invasive carcinoma.
-
Protein-losing enteropathy and spontaneous isolated superior mesenteric artery dissection are both rare clinically. Protein-losing enteropathy due to superior mesenteric artery dissection is extremely rare. ⋯ Protein-losing enteropathy is a serious complication of an isolated superior mesenteric artery dissection. Restoring the patency of the superior mesenteric artery is keyed for the treatment of this complication.
-
Immunoglobulin G4 (IgG4)-related disease is an increasingly recognized immune-mediated entity that can affect virtually every organ system. Depending on the location of the disease, it can present a wide range of clinical manifestations and even mimic malignancies. Appendiceal involvement in patients with IgG4-related disease is particularly rare and very few cases are reported in the literature. ⋯ This study reports the fifth case of IgG4-related appendiceal disease. Increasing awareness of this condition may influence the management of these patients, once patients with IgG4-related disease should be monitored after treatment, due to the risk of recurrence or involvement of other organs.