Successful treatment of a high-risk nonseminomatous germ cell tumor using etoposide, methotrexate, actinomycin D, cyclophosphamide, and vincristine: A case report.

BACKGROUND: Choriocarcinoma is an infrequent entity and the most aggressive subtype of germ-cell tumors. Because of early metastatic spread and rapid disease progression, choriocarcinoma patients display poor prognosis. Although etoposide, methotrexate, actinomycin D, cyclophosphamide, and vincristine (EMA-CO) regimen is widely used to treat gestational trophoblastic tumors in females, its role in treating male choriocarcinoma is seldom reported. CASE SUMMARY: A 32-year-old man was diagnosed with burned-out primary germ cell tumors (GCT) with retroperitoneum, liver and lung metastases. Biopsy of the liver revealed pure choriocarcinoma. The patient received bleomycin, etoposide, and cisplatin chemotherapy. After two cycles of treatment, response evaluation revealed the mixed response. EMA-CO regimen was used in the second-line therapy. After eight cycles, the patient showed a potentially resectable state and thus, all residual masses were surgically removed. The patient was completely cured, and 10 years later, he is leading a healthy life without complications. CONCLUSION: This paper is the first case of high-risk nonseminomatous GCT in a male patient to be successfully treated with the EMA-CO regimen. The EMA-CO regimen can be used actively in patients with high-risk nonseminomatous GCT.

The Efficacy of Ketogenic Diet for Specific Genetic Mutation in Developmental and Epileptic Encephalopathy.

Objectives: Pathogenic mutations in developmental and epileptic encephalopathy (DEE) are increasingly being discovered. However, little has been known about effective targeted treatments for this rare disorder. Here, we assessed the efficacy of ketogenic diet (KD) according to the genes responsible for DEE. Methods: We retrospectively evaluated the data from 333 patients who underwent a targeted next-generation sequencing panel for DEE, 155 of whom had tried KD. Patients showing ≥90% seizure reduction from baseline were considered responders. The KD efficacy was examined at 3, 6, and 12 months after initiation. Patients were divided into those with an identified pathogenic mutation (n = 73) and those without (n = 82). The KD efficacy in patients with each identified pathogenic mutation was compared with that in patients without identified genetic mutations. Results: The responder rate to KD in the patients with identified pathogenic mutations (n = 73) was 52.1, 49.3, and 43.8% at 3, 6, and 12 months after initiation, respectively. Patients with mutations in SCN1A (n = 18, responder rate = 77.8%, p = 0.001), KCNQ2 (n = 6, responder rate = 83.3%, p = 0.022), STXBP1 (n = 4, responder rate = 100.0%, p = 0.015), and SCN2A (n = 3, responder rate = 100.0%, p = 0.041) showed significantly better responses to KD than patients without identified genetic mutations. Patients with CDKL5 encephalopathy (n = 10, responder rate = 0.0%, p = 0.031) showed significantly less-favorable responses to KD. Conclusions: The responder rate to KD remained consistent after KD in DEE patients with specific pathogenic mutations. KD is effective in patients with DEE with genetic etiology, especially in patients with SCN1A, KCNQ2, STXBP1, and SCN2A mutations, but is less effective in patients with CDKL5 mutations. Therefore, identifying the causative gene can help predict the efficacy of KD in patients with DEE.

The association between body mass index and duration spent on electronic devices in children and adolescents in Western Saudi Arabia.

[No Abstract Available].

Generation of structurally novel short carotenoids and study of their biological activity.

Recent research interest in phytochemicals has consistently driven the efforts in the metabolic engineering field toward microbial production of various carotenoids. In spite of systematic studies, the possibility of using C30 carotenoids as biologically functional compounds has not been explored thus far. Here, we generated 13 novel structures of C30 carotenoids and one C35 carotenoid, including acyclic, monocyclic, and bicyclic structures, through directed evolution and combinatorial biosynthesis, in Escherichia coli. Measurement of radical scavenging activity of various C30 carotenoid structures revealed that acyclic C30 carotenoids showed higher radical scavenging activity than did DL-α-tocopherol. We could assume high potential biological activity of the novel structures of C30 carotenoids as well, based on the neuronal differentiation activity observed for the monocyclic C30 carotenoid 4,4'-diapotorulene on rat bone marrow mesenchymal stem cells. Our results demonstrate that a series of structurally novel carotenoids possessing biologically beneficial properties can be synthesized in E. coli.

Visceral adipose tissue area is an independent risk factor for hepatic steatosis.

BACKGROUND AND AIM: Recent data indicate that hepatic steatosis is associated with insulin resistance, dyslipidemia and obesity (especially central body fat distribution). There have been few studies on the correlation between biopsy-proven hepatic steatosis and the above factors in a disease-free population. The aim of the present study was to evaluate the relation between hepatic steatosis assessed by biopsy and clinical characteristics including regional fat distribution measured by computed tomography (CT) in living liver donors. METHODS: Laboratory data, liver/spleen Hounsfield ratio (L/S ratio), regional fat distribution by CT and liver status by biopsy were evaluated retrospectively in a total of 177 living liver donors without a history of alcohol intake. RESULTS: The unpaired t-test showed that age, triglycerides (TG), high density lipoprotein, total cholesterol, alanine aminotransferase, body mass index, L/S ratio, visceral adipose tissue area (VAT) and subcutaneous adipose tissue area (SAT) were associated with hepatic steatosis. In the multiple logistic regression analysis, VAT (odds ratio 1.031, 95% CI 1.013-1.048, P < 0.01) and TG (odds ratio 1.012, 95% CI 1.004-1.020, P < 0.01) were independent risk factors of hepatic steatosis. Subgroup analysis also showed that VAT was an independent risk factor in men (odds ratio 1.022, 95% CI 1.003-1.041, P < 0.05) and women (odds ratio 1.086, 95% CI 1.010-1.168, P < 0.05). CONCLUSION: Our results suggest that visceral abdominal adiposity is correlated with hepatic steatosis in healthy living liver donors.

Visualization of venous systems by time-of-flight magnetic resonance angiography.

BACKGROUND AND PURPOSE: Time-of-flight (TOF) imaging technique depicts strong signal from fresh unsaturated magnetization that moves fast into the imaging region, and TOF magnetic resonance angiography (MRA) visualizes the arterial system using saturation pulse and band. However, TOF MRA can visualize the venous system when the flow direction is reversed. METHODS AND PATIENTS: We consecutively enrolled patients between June 2002 and February 2003 with an internal jugular vein (IJV) and sigmoid sinus (SS) visualized by TOF MRA. Carotid Duplex ultrasonography was performed on all patients to check IJV flow directions. Gadolinium (Gd)-enhanced MRA and conventional digital subtraction angiography were performed in selected patients. RESULTS: The IJVs and SSs of eight patients (left = 7, right = 1) were observed by TOF MRA. In these 8 patients, Duplex ultrasonography confirmed a reversed direction in IJVs. Four of the patients underwent Gd-enhanced MRA, which showed proximal innominate vein steno-occlusion. CONCLUSIONS: This is the first description of IJV and SS visualization by TOF MRA. Clinical implications are discussed.