BackgroundRecent technological development allows nearly complete replacement of the cytoplasm of egg/embryo, eliminating the transmission of undesired defective mitochondria (mutated mitochondrial DNA: mtDNA) for patients with inherited mitochondrial diseases, which is called mitochondrial replacement therapy (MRT).MethodsWe review and summarize the mitochondrial biogenesis and mitochondrial diseases, the research milestones and future research agenda of MRT and also discuss MRT‐derived potential application in common assisted reproductive technology (ART) treatment for subfertile patients.Main findingsEmerging techniques, involving maternal spindle transfer (MST) and pronuclear transfer (PNT), have demonstrated in preventing carryover of the unbidden (mutated) mtDNA in egg or in early embryos. The House of Parliament in the United Kingdom passed regulations permitting the use of MST and PNT in 2015. Furthermore, the Human Fertilization and Embryology Authority (HFEA) to granted licenses world first use of those techniques in March 2017. However, recent evidence demonstrated gradual loss of donor mtDNA and reversal to the nuclear DNA‐matched haplotype in MRT derivatives.ConclusionWhile further studies are needed to clarify mitochondrial biogenesis responsible for reversion, ruling in United Kingdom may shift the current worldwide consensus that prohibits gene modification in human gametes or embryos, toward allowing the correction of altered genes in germline.
BackgroundMalignant tumors arising from the vulva account for only 0.6 % of all cancers in female patients. The predominant histologic type, representing about 90 % of these malignancies, is squamous cell carcinoma. Eccrine porocarcinoma is a rare malignant tumor arising from sweat glands. The incidence of eccrine porocarcinoma is estimated at 0.005–0.01 % of all cutaneous tumors. To the best of our knowledge, only seven previous cases of vulvar eccrine porocarcinoma have been reported in the English-language literature. We present the case of a patient with eccrine porocarcinoma of the vulva, and we summarize the clinical features of this disease using seven previously reported cases.Case presentationA 54-year-old Japanese woman visited a local hospital complaining of fever and left vulvar pain for 2 months. An initial examination revealed a 1 × 1 cm, firm, ulcerative mass in the inner aspect of the left labium minorum. With a preoperative diagnosis of vulvar squamous cell carcinoma, we performed a radical local excision followed by bilateral inguinal lymphadenectomy. Histological examination showed eccrine porocarcinoma, stage IB (T1bN0M0). Radiation therapy with weekly cisplatin administration was then given as adjuvant therapy. One month after treatment was completed, computed tomography revealed multiple metastases in the bilateral lungs and in the sacral bone. The patient received three courses of chemotherapy (paclitaxel and carboplatin) and underwent palliative radiation therapy to the sacrum. She died of her disease 12 months after surgery.ConclusionsWe report the case of a patient with eccrine porocarcinoma of the vulva and summarize the clinical features and the treatment options of eccrine porocarcinoma from a few retrospective case reports. Although eccrine porocarcinoma is a rare disease, clinicians and pathologists should be aware of its clinical and histological features and its biological behavior.
We have developed an automated device for the measurement of oxygen consumption rate (OCR) called Chip-sensing Embryo Respiratory Measurement system (CERMs). To verify the safety and the significance of the OCR measurement by CERMs, we conducted comprehensive tests using a mouse model prior to clinical trials in a human in vitro fertilization (IVF) program. Embryo transfer revealed that the OCR measured by CERMs did not compromise the full-term development of mice or their future fertility, and was positively correlated with adenosine triphosphate (ATP) production and the mitochondrial membrane potential (ΔΨm), thereby indirectly reflecting mitochondrial oxidative phosphorylation (OXPHOS) activity. We demonstrated that the OCR is independent of embryo morphology (the size) and number of mitochondria (mitochondrial DNA copy number). The OCR correlated with the total cell numbers, whereas the inner cell mass (ICM) cell numbers and the fetal developmental rate were not. Thus, the OCR may serve as an indicator of the numbers of trophectoderm (TE) cells, rather than number or quality of ICM cells. However, implantation ability was neither correlated with the OCR, nor the embryo size in this model. This can probably be attributed to the limitation that chimeric embryos contain non-physiological high TE cells counts that are beneficial for implantation. CERMs can be safely employed in clinical IVF owing to it being a safe, highly effective, non-invasive, accurate, and quantitative tool for OCR measurement. Utilization of CERMs for clinical testing of human embryos would provide further insights into the nature of oxidative metabolism and embryonic viability.
Uterine cervical diverticulum is a very rare malformation. Affected patients are reported to have infertility issues and problems during the perinatal period. A 32‐year‐old nulliparous woman visited another obstetrics and gynecology hospital because of infertility. A cyst branching out from the uterine cervix was discovered. Subsequently, she conceived via assisted reproductive technology, but the uterine cyst was left untreated. Eventually, the pregnancy was terminated due to an enlarged uterine cyst and several birth defects. She was referred to our hospital where she was diagnosed with a uterine cervical diverticulum. We excised the diverticulum via a laparoscopic approach. Afterward, she became pregnant and delivered a baby vaginally at 37 weeks. To our knowledge, this is the first report of successful delivery after laparoscopic diverticulum excision. We recommend cervical diverticulum excision before pregnancy because of the potential adverse events associated with cervical diverticulum during pregnancy.
Sarcoidosis is a systemic granulomatous disease that is most commonly manifested in the pulmonary system. Though the entire etiology of sarcoidosis remains unknown, it has been reported that Propionibacterium acnes (P. acnes) has been isolated from sarcoid lesions. Herein, we report a case of salpingitis arising from sarcoidosis. A female patient aged 37 years, gravida 2 para 0, who had been diagnosed with sarcoidosis at the age of 36 years, underwent laparoscopic right salpingectomy due to obvious right hydrosalpinx with recurrent refractory right lower abdominal pain. The pathological diagnosis was granulomatous salpingitis of the right fallopian tube suspecting sarcoidosis. Immunocytochemistry using a specific monoclonal antibody against P. acnes lipoteichoic acid (PAB antibody) revealed PAB-positive reaction in sarcoid granuloma. This is the first case of sarcoidosis that the presence of P. acnes was shown in sarcoid lesions in the fallopian tube.
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