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1.
Front Neurol ; 15: 1340694, 2024.
Article in English | MEDLINE | ID: mdl-38405402

ABSTRACT

Spinal and bulbar muscular atrophy (SBMA) is an X-linked recessive motor neuron disease caused by the expansion of cytosine-adenine-guanine (CAG) repeats in the androgen receptor (AR) gene. It is thought that the nuclear translocation of abnormal AR proteins following binding to testosterone triggers the onset of the disease. We report the case of a patient who had SBMA coincident with Klinefelter syndrome. He developed SBMA symptoms rapidly after receiving androgen replacement therapy for Klinefelter syndrome. No cases of coincident SBMA and Klinefelter syndrome have been reported, and if confirmed by further patients in future, that androgen hormones are strongly associated with the development and progression of SBMA in fact in humans.

2.
Cureus ; 14(11): e31834, 2022 Nov.
Article in English | MEDLINE | ID: mdl-36579293

ABSTRACT

Mollaret meningitis is a recurrent aseptic meningitis mostly caused by herpes simplex virus type 2. Other causes of the disease rarely exist, and its pathology is not well understood. Herein, we present a 57-year-old man who had been admitted to our hospital eight times with recurrent aseptic meningitis. Although the deoxyribonucleic acid (DNA) of varicella-zoster virus (VZV) was not detected in the cerebrospinal fluid (CSF), his genetic analysis, measurement of anti-VZV immunoglobulin-G (IgG) in the CSF, the VZV IgG index, IgG in the serum, and interleukin-1 beta in the CSF revealed that the Mollaret meningitis had been caused by the VZV. This case demonstrates that Mollaret meningitis can be caused by the VZV when specific factors are associated with decreased immune response. This case is valuable in elucidating the pathophysiology of Mollaret meningitis.

3.
Rinsho Shinkeigaku ; 62(12): 940-945, 2022 Dec 17.
Article in Japanese | MEDLINE | ID: mdl-36450491

ABSTRACT

The case was a 53-year-old woman. At birth, she was diagnosed with a false Taussig-Bing anomaly with pulmonary artery stenosis and a single ventricle. However, no cardiac surgery was performed, and conservative treatment was continued by a cardiovascular surgeon even after adulthood. Because of secondary polycythemia and a history of multiple cerebral infarctions, she took anti-platelet drugs and anti-coagulants. However, she was admitted with the diagnosis of cerebral infarction for the fourth time. It was considered that the patient was at high risk of paradoxical cerebral embolism due to cardiac malformation with cyanotic congenital heart disease accompanied by coagulation abnormalities. Considering the pathophysiology, we decided to use aspirin in combination with warfarin.


Subject(s)
Cardiac Surgical Procedures , Double Outlet Right Ventricle , Polycythemia , Infant, Newborn , Female , Adult , Humans , Middle Aged , Double Outlet Right Ventricle/complications , Double Outlet Right Ventricle/diagnosis , Double Outlet Right Ventricle/surgery , Cerebral Infarction/etiology , Cerebral Infarction/complications , Polycythemia/complications , Patients
4.
Front Immunol ; 13: 952868, 2022.
Article in English | MEDLINE | ID: mdl-36065447

ABSTRACT

Anti-N-methyl-D-aspartate receptor (NMDAR) antibody encephalitis is caused by a reversible inhibition of ion channel actions by autoantibodies and is associated with a relatively good prognosis. Pathological findings of NMDAR encephalitis usually do not show neurophagorous nodules, but rare or mild inflammatory infiltration. We report a patient of small cell lung cancer (SCLC)-related paraneoplastic encephalitis with NMDAR antibodies, a cytotoxic T-cell-mediated pathology of the brain, and a rapid clinical course. This case highlights that the neuropathological diversity of NMDAR encephalitis may be even broader than previously thought and that NMDAR antibodies may also be found in various pathological conditions with a vigorous immune response.


Subject(s)
Anti-N-Methyl-D-Aspartate Receptor Encephalitis , Lung Neoplasms , Small Cell Lung Carcinoma , Anti-N-Methyl-D-Aspartate Receptor Encephalitis/complications , Anti-N-Methyl-D-Aspartate Receptor Encephalitis/etiology , Autoantibodies , Humans , Lung Neoplasms/complications , Receptors, N-Methyl-D-Aspartate , Small Cell Lung Carcinoma/complications , T-Lymphocytes, Cytotoxic
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