Examine the genotype-phenotype relationship in Japanese congenital central hypoventilation syndrome (CCHS) patients and estimate the incidence of CCHS in Japan. Subjects were 92 Japanese patients with PHOX2B mutations; 19 cases carried 25 polyalanine repeat expansion mutations (PARMs); 67 cases carried 26 or more PARMs; and 6 had non-PARMs (NPARMs). We collected clinical data in all patients and estimated the development or intelligent quotients only in the patients carrying 25 PARM. The estimated incidence of CCHS was greater than one case per 148 000 births. Polyhydramnios was observed in three cases. Twelve infants exhibited depressed respiration at birth. In 19 cases carrying 25 PARM, the male-to-female ratio was ~3, no cases had Hirschsprung disease; 7 cases (37%) developed hypoventilation after the neonatal period, and 8 cases (42%) had mental retardation. In other 73 cases carrying 26 or more PARMs or NPARMs, male-to-female ratio was equal; patients frequently complicated with Hirschsprung disease and constipation, and all patients presented with hypoventilation in the neonatal period. Clinical symptoms were severe in most patients carrying long PARMs and NPARMs. In 25 PARM, additional genetic and/or epigenetic factors were required for CCHS development and male sex is likely a predisposing factor. The patients carrying 25 PARM frequently had mental retardation likely because they were not able to receive appropriate ventilation support following a definitive diagnosis owing to subtle and or irregular hypoventilation. Molecular diagnosis provides a definitive diagnosis and enables to receive appropriate ventilator support.

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There were no statistically significant differences between pre-surgical medication with dienogest and leuprorelin in post-surgical ovarian function. Both medications were effective in reducing endometrial cyst volume and VAS score.

Background: Primary fallopian tube cancer is an extremely rare gynecological malignancy. Aim: To discuss, through a case report, the diagnostic process by means of cytology immunohistochemistry. Case Presentation: A 47-year-old Japanese woman, who also had lung cancer, presented with enlarged para-aortic lymph node without any symptoms. Based on the vaginal cytology report suggestive of gynecologic malignant tumor (possibly fallopian tube adenocarcinoma), primary surgery comprised of total abdominal hysterectomy and bilateral salpingo-oophorectomy was performed. Histopathology and immunohistochemistry examinations revealed primary fallopian tube carcinoma with metastasis of para-aortic lymph node. She is free from recurrence and metastases 9 months after the surgery and chemotherapy. Conclusion: Although primary fallopian tube cancer is a rare gynecologic malignancy, vaginal cytology may be useful for detecting fallopian tube carcinoma.

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