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Chapter 5: THE ROLE OF GENETICS IN PRIMARY HYPERPARATHYROIDISM.
Ann Endocrinol (Paris)
January 2025
Univ. Lille, Inserm, CHU Lille, U1286 - Infinite, F-59045 Lille Cedex, Department of Biochemistry and Molecular Biology, Lille University Hospital, Lille, France. Electronic address:
Around 10% of cases of primary hyperparathyroidism are thought to be genetic in origin, some of which are part of a syndromic form such as multiple endocrine neoplasia types 1, 2A or 4 or hyperparathyroidism-jaw tumor syndrome, while the remainder are cases of isolated familial primary hyperparathyroidism. Recognition of these genetic forms is important to ensure appropriate management according to the gene and type of variant involved, but screening for a genetic cause is not justified in all patients presenting primary hyperparathyroidism. The indications for genetic analysis have made it possible to propose a decision tree that takes into account whether the presentation is familial or sporadic, syndromic or isolated, patient age, and histopathological type of parathyroid lesion.
View Article and Find Full Text PDFPost-transseptal puncture re-entrant atrial tachycardia mimicking typical flutter.
Acta Cardiol
January 2025
Department of Cardiology, CHU HELORA Jolimont Hospital, La Louvière, Belgium.
This case report discusses the management of a 75-year-old man who developed an unusual type of atypical atrial flutter following a previous pulmonary vein isolation for paroxysmal atrial fibrillation. Despite a second attempt to re-isolate the pulmonary veins and performing cavotricuspid isthmus ablation (which was suspected to be part of the arrythmia circuit), the flutter continued and was converted to sinus rhythm through electrical cardioversion. A few weeks later, the patient's atrial tachycardia relapsed.
View Article and Find Full Text PDFFunctional dyspepsia (FD) is a gut-brain axis disorder characterized by postprandial fullness, early satiety, bloating and/or epigastric pain, which are presumed to originate in the gastroduodenal tract. While the international recommendations in the Rome IV consensus require endoscopy to rule out an organic condition before establishing a diagnosis of FD, international guidelines recommend that, in the absence of risk factors, patient management be initiated at the primary care level by establishing Helicobacter pylori infection status, with eradication when positive, followed by empiric therapy with proton pump inhibitors and/or prokinetics, and that endoscopy be reserved for patients refractory to said measures. Second-line therapy includes neuromodulating agents, among which tricyclic antidepressants and atypical antipsychotics such as levosulpiride stand out.
View Article and Find Full Text PDFIncidental left paraaortic mass in a patient with gall bladder adenocarcinoma: A diagnostic challenge.
Radiol Case Rep
March 2025
Department of Pathology, Bir Hospital, Kathmandu, Nepal.
Incidental adrenal masses are frequently detected due to the extensive use of cross-sectional imaging, with about 3% to 7% of adults estimated to have them. Paragangliomas and pheochromocytomas (PPGL), rare tumors originating from paraganglia tissues, including the adrenal medulla, continue to be imaging mimics, necessitating a multimodal approach for accurate diagnosis. We report a case of 72-years male presenting with intermittent pain abdomen for the past 1 year.
View Article and Find Full Text PDFUncommon retroperitoneal mass in a young adult: A rare case report of retroperitoneal schwannoma and review of diagnostic challenges.
Int J Surg Case Rep
January 2025
General Surgery Department, Center for Traumatology and Major Burns, 1st of May Street, El Iskan City, 2013, Ben Arous, Tunisia; Faculty of Medicine of Tunis. 15, Djebel Lakhdhar Street, 1007 Bab Saadoun, Tunis, Tunisia.
Introduction And Importance: Retroperitoneal schwannomas are extremely rare, benign tumors originating from Schwann cells in peripheral nerve sheaths, with few reported cases. Their deep location and nonspecific symptoms make preoperative diagnosis challenging, often requiring imaging and surgical resection for confirmation. This case highlights an uncommon presentation of retroperitoneal schwannoma in a young patient, emphasizing its rarity.
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