Medicine
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Acute intermittent porphyria (AIP) is caused by hydroxymethylbilane synthase (HMBS) gene mutation. ⋯ Physicians should pay attention to AIP attack in patients with suspected symptoms and make use of genetic testing to increase identification of mutated HMBS gene carriers for further preventive strategy.
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Case Reports
Surgical management of retroperitoneal schwannoma complicated with severe hydronephrosis: A case report.
Schwannomas are usually benign tumors arising from well-differentiated schwann cells, which rarely occur in the retroperitoneal space. The lack of specific signs and radiologic imaging characteristics makes preoperative diagnosis rather difficult. Most retroperitoneal schwannomas are benign and the primary treatment choice for retroperitoneal schwannomas is surgical excision, however, the involvement of the urinary system is scarcely reported. ⋯ Preoperative imaging and preoperative ultrasound-guided biopsy are helpful to make accurate diagnosis. The final diagnosis is based on postoperative histological and immunohistochemical findings. The primary treatment option is complete surgical resection of the retroperitoneal schwannoma and the involved upper urinary system when severe hydronephrosis occured. Local recurrence and overall survival are closely correlated with negative resection margins and pathology types.
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Radiotherapy (RT) is widely used for both malignant and benign tumors in order to reduce the risk of recurrence, to promote tumor control, and to improve survival. However, there have been studies reported that RT is also a risk factor of secondary cancer. Very few cases of secondary malignancy after RT to high grade brain cancer have been reported due to short survival of this disease, and most RT-induced malignancies presented with sarcomatous histology. Here we present a patient with basal cell carcinoma (BCC) 14 years after RT to his brain. ⋯ Notwithstanding the risk of radiation-induced skin cancer, RT contributed to this patient's survival. The possible late adverse events should be informed to the patients.
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The biopsy samples might be the only tumor material available for testing the EGFR mutation status in some cases, but these samples are often composed of variable ratios of tumor to normal cells. In this study, we sought to build a scoring system to predict Epidermal growth factor receptor (EGFR) exon 19 mutation in lung adenocarcinoma by clinical and radiological features. ⋯ The scoring system based on the statistical analysis of clinical and radiological features may be a new alternative to the prediction of EGFR mutation subtypes.
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Observational Study
Neonate female to male ratio after assisted reproduction following antagonist and agonist protocols.
We retrospectively compared neonatal sex after antagonist- versus long-stimulation protocols followed by fresh in vitro fertilization (IVF) or fresh intracytoplasmic sperm injection (ICSI) with either protocol. We reviewed data for 762 IVF/ICSI cycles in 2015, including 23 IVF procedures. ⋯ Our results also showed no significant difference in sex proportion when comparing IVF versus ICSI, although a higher proportion of babies were male with the antagonist-ICSI protocol. Differences between the additional subgroups were also neither clinically nor statistically significant.