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1.
Mol Genet Genomic Med ; 11(12): e2300, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37822273

ABSTRACT

BACKGROUND: Y chromosome material stands as an independent risk determinant for the onset of gonadoblastoma (GB) and subsequent gonadal germ cell tumours in individuals with Turner syndrome (TS). However, the delayed and underestimated identification of Y chromosome material through karyotyping within primary care settings exacerbates the intricacies of managing these patients over the long term. METHODS: We present a case involving TS accompanied by Y chromosome material, wherein puberty delay and GB were identified during prophylactic gonadectomy. Subsequently, we delve into the literature to explore the GB-related malignancy risk in TS patients with Y chromosome material, the incidence of Y chromosome presence in TS patients using methodologies beyond routine chromosomal testing, and the diagnosis and treatment of puberty delay in TS patients, all based on our case. RESULTS: A spectrum of more sensitive molecular techniques, including polymerase chain reaction (PCR) and fluorescence in situ hybridisation, effectively augments the detection of Y chromosome material alongside karyotyping. In addition to gonadectomy, the implementation of appropriate oestrogen therapy and a holistic, multidisciplinary approach to care can enhance the quality of life, while mitigating the long-term morbidity and mortality risks for TS patients harbouring Y chromosome material. CONCLUSIONS: Beyond gonadectomy, adopting a multifaceted approach the Y chromosome material detection, prompt initiation of puberty, tailored oestrogen therapy, and coordinated multidisciplinary management significantly contributes to the comprehensive health oversight of TS patients with Y chromosome material.


Subject(s)
Gonadoblastoma , Ovarian Neoplasms , Turner Syndrome , Female , Humans , Turner Syndrome/complications , Turner Syndrome/genetics , Gonadoblastoma/genetics , Gonadoblastoma/complications , Gonadoblastoma/diagnosis , Quality of Life , Puberty , Ovarian Neoplasms/genetics , Estrogens
2.
Chinese Journal of Digestion ; (12): 33-40, 2021.
Article in Chinese | WPRIM | ID: wpr-912232

ABSTRACT

Objective:To investigate the efficacy and related factors of lamb′s tripe extract and vitamin B12 capsule (LTEVB12) in the treatment of chronic atrophic gastritis.Methods:From October 1st 2016 to April 30th 2021, 240 patients with chronic atrophic gastritis visited the Department of Gastroenterology at Xijing Hospital, Air Force Medical University were retrospectively analyzed. All patients regularly took LTEVB12 (110 U/day, 3 times/day) for six months. At the end of treatment, endoscopy and gastric mucosal biopsy were conducted. The therapeutic effects were evaluated by comparing the changes of operative link on gastritis assessment (OLGA) and operative link on gastritis assessment based on intestinal metaplasia (OLGIM) staging before and after treatment. The related factors affecting the efficacy of the drug were analyzed. Multivariate logistic regression analysis was used for statistical analysis.Results:After half a year of treatment, the reversal efficiency of atrophy and intestinal metaplasia was 45.4% (109/240) and 37.9% (91/240), respectively, and the total efficiency was 62.9% (151/240). The reversal efficiency of OLGA and OLGIM staging reversed from high stage (stage Ⅲ to Ⅳ) to low stage (stage 0 to Ⅱ) was 53.4% (63/118) and 54.5% (36/66), respectively. The results of multivariate analysis showed that female, vitamin supplementation (≥3 times/week), negative or successful eradication of Helicobacter pylori and mild inflammatory status (inflammation score: 1 to 2) were associated with improving the efficacy of LTEVB12 (odds ratio=1.798, 3.730, 2.817 and 4.631, 95% confidence interval 1.055 to 3.064, 1.197 to 11.627, 1.171 to 6.779, 1.480 to 14.493; all P<0.05). High consumption of pickled food (≥3 times/week) was associated with reducing efficacy of LTEVB12 (odds ratio=0.384, 95%confidence interval 0.200 to 0.740). Conclusion:LTEVB12 has better reversal therapeutic effect on atrophy and intestinal metaplasia, and may reduce the risk of gastric cancer in patients with chronic atrophic gastritis.

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