RESUMO
Transverse vaginal septum (TVS) is a particularly rare vaginal anomaly, and diagnosis is often difficult in a genital examination. We herein present a case of perforated TVS for which successful diagnosis and treatment were achieved using a new technique referred to as saline infusion sonocolpography. A 32-year-old female presented with primary infertility. Speculum examination revealed a blind vaginal canal with two pinpoint perforating holes. Foley catheters with inflated balloon were inserted into the two apertures, and then normal saline was injected through the catheters to distend the vaginal pouch. This procedure of saline infusion sonocolpography revealed the uterine cervix and vaginal pouch and permitted diagnosis of perforated TVS of the upper vagina. The septum was excised and a normal cervix was ascertained. The patient had no complication such as agglutination of the vagina postoperatively. This case suggests that saline infusion sonocolpography may be useful for diagnosis and treatment of TVS.
RESUMO
Uterine carcinoma of the lower uterine segment (LUS) is a rare tumor that accounts for 3-3.5% of cases of uterine malignant cancer. The tumor arises from the lower region of the uterine body through the upper region of the cervix. The present study reported a case of clear cell carcinoma that originated from the LUS. A 50-year-old woman visited a local hospital due to irregular vaginal bleeding. She was suspected to have a uterine tumor and was referred to Tachikawa Hospital (Tokyo, Japan). Transvaginal ultrasound and magnetic resonance imaging revealed a uterine tumor from the lower region of the uterine body through the upper region of the cervix. Endocervical curettage revealed clear cell carcinoma. Based on a diagnosis of clear cell carcinoma of the LUS, radical hysterectomy was performed with bilateral salpingo-oophorectomy, paraaortic lymph node dissection and omentectomy. Macroscopically, the tumor was limited to the lower region of the uterine body through the upper region of the cervix in the resected uterus. Histopathological findings indicated no tumors in the uterine corpus and uterine cervix, but clear cell carcinoma was observed in the LUS epithelium. At the 1-year follow-up, the patient remained free of local recurrence and metastasis. To the best of our knowledge, clear cell carcinoma of the LUS has not previously been reported. More cases are required to clarify the pathology.
RESUMO
We present three cases of trisomy 9 mosaicism diagnosed by amniocentesis with ongoing pregnancies after referral to our center due to fetal abnormalities. Two cases were associated with severe fetal growth restriction (FGR), each of which resulted in an intrauterine fetal demise (IUFD) in the third trimester. The other case involved mild FGR with a congenital diaphragmatic hernia and resulted in a live birth with severe development delay. A major prenatal finding of trisomy 9 mosaicism is FGR. Fetuses with trisomy 9 mosaicism can rarely survive in the case of severe FGR.
RESUMO
The reaction of an imidazolium salt with LiBEt(3)H afforded triethylborane adduct of imidazol-2-ylidene, which can act as a carbene precursor for the synthesis of a transition metal complex as well as a main group element complex.
RESUMO
Heterozygous point mutations in the coding region of the human glial fibrillary acidic protein (GFAP) gene have been reported in patients with various forms of Alexander disease (AD). We report a case of genetically confirmed adult-onset AD with palatal myoclonus, pyramidal tract signs, cerebellar signs, and marked atrophy of the medulla oblongata and spinal cord, autonomic dysfunction and heterozygous R416W GFAP mutation. Interestingly, this R416W mutation has also been reported in both infantile and juvenile forms of Alexander disease. The fact that a R416W mutation causes various types of AD suggests that clinical severities of AD are due not only to the different sites and nature of mutations in GFAP, but also to other modifying factor(s).
Assuntos
Doença de Alexander/genética , Proteína Glial Fibrilar Ácida/genética , Mutação Puntual/genética , Adulto , Idade de Início , Doença de Alexander/diagnóstico por imagem , Doença de Alexander/patologia , Doença de Alexander/fisiopatologia , Sequência de Bases/genética , Encéfalo/diagnóstico por imagem , Análise Mutacional de DNA , Humanos , Masculino , Radiografia , Medula Espinal/diagnóstico por imagemAssuntos
Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/fisiopatologia , Debilidade Muscular/fisiopatologia , Músculo Esquelético/fisiopatologia , Plexo Braquial/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Músculos do Pescoço/fisiopatologia , Músculos Faríngeos/fisiopatologiaRESUMO
In recent years, advances in the diagnosis and treatment of herpes simplex encephalitis (HSE) have been achieved due to the prevalence of antiviral drugs and the introduction of the polymerase chain reaction (PCR) to test the cerebrospinal fluid. The several clinical forms of herpes simplex virus type 1 (HSV-1) infections of the central nervous system (CNS), including acute disseminated encephalomyelitis and brainstem encephalitis, have been clarified. However, fatal, prolonged, or relapsed cases are still observed, and early detection and appropriate treatment is necessary to lead to a good prognosis for these intractable HSE cases. In adult HSV-2 infections, meningitis and myelitis associated with genital herpes are common. In the past, HSV-2 myelitis has been reported as a form of fatal necrotizing myelopathy; however, using PCR and magnetic resonance imaging studies, mild surviving cases are increasingly likely to be identified. Meanwhile, various CNS syndromes resulting from the herpes group viruses, including varicella-zoster virus and Epstein-Barr virus have also been reported. These herpesviruses have several characteristics in common, e.g., they exist in the latent state and they occur in both mucocutaneous and CNS infections. Adult HSV-1 and -2 infections of the CNS are discussed together with other herpes group virus infections of the CNS.