Online ISSN : 1884-6580
Print ISSN : 0037-3826
ISSN-L : 0037-3826
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  • Minami TAKI, Takashi MIURA, Yoshiteru OKINA, Tomoaki MOCHIDOME, Takahi ...
    2021 Volume 69 Issue 1 Pages 37-44
    Published: February 10, 2021
    Released: March 09, 2021
    Background : The diagnosis of cardiac transthyretin (ATTR) amyloidosis is frequently delayed or missed because of its nonspecific echocardiographic features and the need for histological confirmation through biopsy. We evaluated the prevalence of cardiac ATTR amyloidosis diagnosed noninvasively by the combination of the positive cardiac uptake on technetium (99mTc)-labeled pyrophosphate (PYP) scintigraphy and the absence of monoclonal protein among elderly heart failure patients. We also demonstrated the clinical features of cardiac ATTR amyloidosis.
    Methods : We prospectively enrolled 38 consecutive patients, aged 70 years and older, who were treated for heart failure at our hospital between October 2017 and September 2018 and consented to undergo 99mTc-PYP scintigraphy. Experienced radiologists scored the cardiac uptake from grade 0 to 3, and grades 2 and 3 were defined as positive uptake. The clinical, echocardiographic, and electrocardiographic characteristics were recorded, and monoclonal protein studies were performed.
    Results : Four patients showed positive cardiac uptake on the 99mTc-PYP scan, and two of them demonstrated grade 2 or 3 uptake and negative monoclonal protein. As one patient with grade 3 uptake and monoclonal protein was proven to have cardiac ATTR amyloidosis histologically, the proportion of cardiac ATTR amyloidosis was 7.9% (3/38). We compared parameters including clinical, blood test and imaging characteristics between cardiac ATTR amyloidosis patients and others. The electrocardiographic voltage of the R-wave in the precordial leads was lower in cardiac ATTR amyloidosis.
    Conclusions : This study indicated that cardiac ATTR amyloidosis should not be regarded as a rare cause of heart failure in elderly patients.
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  • Xueshan CAO, Wen QIU, Bo PANG, Mengyun ZHOU, Anuradha MEHTA, Qi GUO, Y ...
    2021 Volume 69 Issue 1 Pages 45-52
    Published: February 10, 2021
    Released: March 09, 2021
    Background : Calcium/calmodulin-dependent serine protein kinase (CASK) is a synaptic scaffolding protein and mutations in the CASK gene have been identified in various types of neurodevelopmental disorders. Deficit in social behavior is a common symptom of many neurodevelopmental disorders and also accompanies CASK related disorders. The deep layer of the medial prefrontal cortex (mPFC) has been suggested to be responsible for social behavior.
    Methods : To study the effect of CASK deficiency on social behavior, we generated mPFC specific CASK knockdown mice by introducing CASK short-hairpin RNA using adeno-associated viral (AAV) injection. We studied the behaviors of CASK knockdown and enhanced green fluorescent protein (EGFP) expressing AAV injected control mice using open field and three-chamber apparatus.
    Results : CASK knockdown mice showed normal locomotor activity, anxiety level, and repetitive behavior in the observation in the open field arena, but they showed deficit in reciprocal social interaction with a juvenile mouse. In the three-chamber test, CASK knockdown mice showed more interaction with a novel juvenile mouse than an empty cage at a similar level to control mice, suggesting that social recognition is intact. On the other hand, no significant difference was observed in the interaction between a novel target mouse and a pre-exposed mouse, suggesting that social memory ability was impaired in the CASK knockdown mice.
    Conclusion : By using mPFC specific CASK knockdown mice, we found that CASK deficiency in this area affects the social memory ability. Our results provide insights not only into CASK related disorders, but also a wide range of neurodevelopmental disorders associated with social deficits.
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Case Report
  • Kenji YAMAMOTO, Keiko MAMIYA, Hiroyuki FURUKAWA
    2021 Volume 69 Issue 1 Pages 53-56
    Published: February 10, 2021
    Released: March 09, 2021
    Bilateral block of the lumbar sympathetic nerve may lead to ejaculation disorders, but few cases have been reported. A 40-year-old man developed TAO (thromboangiitis obliterans) in his left lower extremity 18 years ago. He underwent left lumbar sympathectomy (L2-L4) for the ulcer and pain in the left extremity 2 years later. He then developed an ulcer in his right extremity and received a chemical right lumbar sympathetic block at the L3-L4 level. After the procedure, the ulcer healed and the pain disappeared, but the patient developed retrograde ejaculation, which continued for 18 months. Seven months after recovery from the retrograde ejaculation, the pain in his right extremity recurred. We recognized that a patient with left lumbar sympathectomy (L2-L4) was at risk for retrograde ejaculation when the right lumbar sympathetic nerve block was added. Thus, we blocked the right lumbar sympathetic ganglia at the L3-L4 level to ameliorate the pain and ulcer in his toes while preserving the ganglion at L2. In this case, the retrograde ejaculation lasted for 18 months. The patient’s pain in the right extremity recurred 7 months after recovery from the retrograde ejaculation. We assume that regeneration of his right lumbar sympathetic nerve contributed to the spontaneous recovery from the retrograde ejaculation, and subsequently the recurrence of the pain in the right extremity.
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