Objective: Serous tubal intraepithelial carcinoma (STIC) are precursors for high grade serous carcinomas (HGSC) of tubo-ovarian origin. It is a rare entity, most commonly described in patients with a pathogenic variant (PV) undergoing risk-reducing surgery. Little is known about the risk of subsequent HGSC in patients found to have an isolated STIC without a genetic PV. The objective of this study is to report the outcomes of STIC diagnosed in patients with negative genetic testing ("average risk").
Methods: Retrospective population-based cohort study from British Columbia, Canada. Chart review of patients diagnosed with an isolated STIC from January 2012 to May 2022. Average risk patients are defined as individuals with known negative genetic testing results. Treatment and outcomes are described in the "average risk", PV, and total cohorts.
Results: Twenty-nine patients with isolated STIC were identified. Ten patients had a PV, four had other variants identified (, , , , nine had no PV identified ("average risk"), and six were unknown (no genetic testing). Of the nine "average risk" patients, eight (89%) underwent surgical staging. Three (33.3%) had subsequent HGSC diagnosed 29, 70 and 86 months after STIC diagnosis.
Conclusions: STIC identified in patients with negative genetic testing are at risk of subsequent HGSC. Patients developed primary peritoneal HGSC despite surgical staging. These patients should also be included in future -analysis to determine outcomes and optimal treatment.
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http://dx.doi.org/10.1016/j.gore.2024.101334 | DOI Listing |
Acta Obstet Gynecol Scand
January 2025
Dextra Fertility Clinic, Helsinki, Finland.
Introduction: This retrospective, observational cohort study investigated the association between treatment of iron deficiency with conception results and pregnancy outcomes in women with infertility and iron deficiency, before and after intravenous ferric carboxymaltose infusion.
Material And Methods: Data were collected from electronic health records from the Dextra Fertility Clinic (Helsinki, Finland) between 2015 and 2020. The cohort included 292 women (<43 years) with infertility and iron deficiency (s-ferritin ≤30 μg/L), treated with a ferric carboxymaltose infusion (Ferinject®, 500 mg i.
Spec Care Dentist
January 2025
Department of Pediatric and Preventive Dentistry, Centre for Dental Education and Research, AIIMS, New Delhi, India.
Renal tubular acidosis (RTA) is a group of disorders in which there is an alteration in acid-base homeostasis because of the impairment of nephrons to excrete hydrogen ions or reabsorb bicarbonate ions, resulting in chronic metabolic acidosis. RTA is an important cause of rickets, particularly 'resistant rickets'. Dental manifestations frequently reported in patients with RTA include enamel hypoplasia and amelogenesis imperfecta, affecting permanent dentition.
View Article and Find Full Text PDFMol Genet Genomic Med
January 2025
Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Background: Sengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. Dysfunction of acylglycerol kinase (AGK) is responsible for the disease, and several AGK gene variants have been reported.
Methods: We employed a comprehensive genomic analysis approach, including whole-genome sequencing and RNA sequencing, combined with various bioinformatics tools.
JCEM Case Rep
January 2025
Department of Endocrinology and Metabolism, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan.
Congenital hypogonadotropic hypogonadism (CHH) can cause delayed secondary sexual characteristics and contribute to juvenile osteoporosis, with multiple causative genes having been reported. We treated a 27-year-old man diagnosed with central hypogonadism, presenting with delayed secondary sexual characteristics and juvenile osteoporosis, using bone resorption inhibitors and testosterone therapy. Genetic testing revealed missense variants both in the fibroblast growth factor receptor 1 () and gonadotropin-releasing hormone receptor () genes, a combination that has not been previously reported.
View Article and Find Full Text PDFJCEM Case Rep
January 2025
Section of Endocrinology and Investigative Medicine, Department of Metabolism, Digestion and Reproduction, Imperial College, London W12 ONN, UK.
We report a 31-year-old man with diarrhea and tachycardia. Diagnostic workup confirmed raised free thyroid hormones with unsuppressed thyroid stimulating hormone (TSH). Laboratory assay and medication interference were excluded.
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