Aged ; Creatine Kinase ; blood ; Female ; Humans ; Hypothyroidism ; complications ; Muscular Diseases ; etiology ; Rhabdomyolysis ; etiology ; Thyrotropin ; blood

Endometriosis coexisting with a dermoid cyst of the ovary is extraordinarily rare, although both these benign conditions are said to be common in women in the reproductive age group. There are only two previous case reports,which is evident from our literature review from January 1960 through January 2010. Acute abdomen is one of the greatest diagnostic challenges and easily ignored by the clinicians to exclude the possibility of gynecologic illness. A 35-year-old woman was referred by the doctor in Family clinic. She experienced a three-day period of severe right lower abdominal pain and intermittent vomiting. Ultrasonography identified a bilocular, cystic, hypoechoic, and hyperechoic tumor, 7 cm × 6 cm × 6 cm in the right adnexal region. Laparoscopic cystectomy was performed under the impression of ovarian cyst with torsion or hemorrhage. The frozen section was benign and appendiceal status was adequate. Histopathologic examination described an ovarian cyst composed of endometrial-type lining with stromacells (endometriosis) and benign teratoma tissue with plenty of skin appendages and sebaceous glands. We report this unusual and interesting ovarian mass to remind physicians that the usage of the Endobag after cystectomy, the benefits on minimizing operative time, spilled opportunity, and postoperative complications. Laparoscopic techniques for large ovarian masses might be considered. The experience of the surgeon is also very important to prevent misdiagnosis or complication. Further follow up is mandatory for this simultaneous finding of ovarian endometriosis with coincidental dermoid cyst as a separate pathology in single ovary of such a nature. It also presents a challenge to the clinicians and to the pathologists.
Adult ; Dermoid Cyst ; diagnosis ; surgery ; Endometriosis ; diagnosis ; surgery ; Female ; Humans ; Ovary ; pathology ; surgery

Objective: aaWilson’s disease (WD) is a rare genetic disorder of copper metabolism, and longitudinal follow-up studies are limited. We performed a retrospective analysis to determine the clinical characteristics and long-term outcomes in a large WD cohort. Methods: aaMedical records of WD patients diagnosed from 2006–2021 at National Taiwan University Hospital were retrospectively evaluated for clinical presentations, neuroimages, genetic information, and follow-up outcomes. Results: aaThe present study enrolled 123 WD patients (mean follow-up: 11.12 ± 7.41 years), including 74 patients (60.2%) with hepatic features and 49 patients (39.8%) with predominantly neuropsychiatric symptoms. Compared to the hepatic group, the neuropsychiatric group exhibited more Kayser-Fleischer rings (77.6% vs. 41.9%, p < 0.01), lower serum ceruloplasmin levels (4.9 ± 3.9 vs. 6.3 ± 3.9 mg/dL, p < 0.01), smaller total brain and subcortical gray matter volumes (p < 0.0001), and worse functional outcomes during follow-up (p = 0.0003). Among patients with available DNA samples (n = 59), the most common mutations were p.R778L (allelic frequency of 22.03%) followed by p.P992L (11.86%) and p.T935M (9.32%). Patients with at least one allele of p.R778L had a younger onset age (p = 0.04), lower ceruloplasmin levels (p < 0.01), lower serum copper levels (p = 0.03), higher percentage of the hepatic form (p = 0.03), and a better functional outcome during follow-up (p = 0.0012) compared to patients with other genetic variations. Conclusion aaThe distinct clinical characteristics and long-term outcomes of patients in our cohort support the ethnic differences regarding the mutational spectrum and clinical presentations in WD.