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( Toshihiko Hata ),( Hiroyuki Sato ),( Ako Machino ),( Mai Wakabayashi ),( Morito Kise ),( Hiroki Ohashi ),( Daisuke Yamashita ),( Kaoru Sakural ),( Toru Matsubayashi ),( Masahiko Hatao ),( Ken Ueda ) 대한내과학회 2014 대한내과학회 추계학술대회 Vol.2014 No.1
31yrs. old female known to have hypertension and dyslipidemia for 1 yr.presented with h/o weight loss around 10 kg for 1 yr,palpiations,diaphoresis and hypertensive urgencyBp 210/110 mmhg)and also found to have diabetes (newly diagnosed)further investigations shows large adrenal mass (left side)suspicion of phaechromocytoma and urine catecholamoines was high, urology was consulted and she underwent left adrenalectomy and biopsy confi rm the diagnosis of malignant phaechromcytoma. Repeat Urine catecholamines which was quite high on presentation later normalized after surgey. Now she is under active follow up with endocrinologist and on antihypertensive medications very minimal doses and for her diabetes she is not on any medications as well after surgery.
Bin, Bum-Ho,Hojyo, Shintaro,Hosaka, Toshiaki,Bhin, Jinhyuk,Kano, Hiroki,Miyai, Tomohiro,Ikeda, Mariko,Kimura-Someya, Tomomi,Shirouzu, Mikako,Cho, Eun-Gyung,Fukue, Kazuhisa,Kambe, Taiho,Ohashi, Wakana BlackWell Publishing Ltd 2014 EMBO molecular medicine Vol.6 No.8
<P>The zinc transporter protein ZIP13 plays critical roles in bone, tooth, and connective tissue development, and its dysfunction is responsible for the spondylocheirodysplastic form of Ehlers-Danlos syndrome (SCD-EDS, OMIM 612350). Here, we report the molecular pathogenic mechanism of SCD-EDS caused by two different mutant ZIP13 proteins found in human patients: ZIP13<SUP>G64D</SUP>, in which Gly at amino acid position 64 is replaced by Asp, and ZIP13<SUP>ΔFLA</SUP>, which contains a deletion of Phe-Leu-Ala. We demonstrated that both the ZIP13<SUP>G64D</SUP> and ZIP13<SUP>ΔFLA</SUP> protein levels are decreased by degradation via the valosin-containing protein (VCP)-linked ubiquitin proteasome pathway. The inhibition of degradation pathways rescued the protein expression levels, resulting in improved intracellular Zn homeostasis. Our findings uncover the pathogenic mechanisms elicited by mutant ZIP13 proteins. Further elucidation of these degradation processes may lead to novel therapeutic targets for SCD-EDS.</P>
Takeshi Hara,Masaki Mizuno,Kazutoshi Hida,Toru Sasamori,Yasuyuki Miyoshi,Hisaaki Uchikado,Hiroki Ohashi,Taku Sugawara,Yasuhiro Takeshima,Yukoh Ohara,Akihide Kondo,Toshiki Endo 대한척추신경외과학회 2023 Neurospine Vol.20 No.3
Objective: This study was aimed to report the clinical characteristics of intramedullary schwannomas and discuss imaging findings and treatment strategies. Methods: The inclusion criterion was consecutive patients with intramedullary schwannomas who were surgically treated at 8 centers between 2009 and 2020. Clinical characteristics included age, sex, clinical presentation, disease duration, and follow-up period. The modified McCormick scale was used to compare the preoperative and postoperative conditions. Pre- and postoperative magnetic resonance images (MRI) of each case were analyzed. Results: The mean age of the total 11 patients at the operation was 50.2 years. The mean duration of the symptoms was 23 months, with limb paresthesia being the most common clinical presentation. The cervical spine was the most common localization level of the tumor in 6 cases. The mean follow-up duration was 49.4 months. Gross total resection (GTR) and subtotal resection (STR) was achieved in 9 and 2 cases, respectively. According to the modified McCormick scale at 6 months postoperatively, 7 cases (63.6%) had improved and 4 cases (36.3%) had unchanged grades. Typical MRI findings of the intramedullary schwannoma included ring-like enhancement, syringomyelia, cystic formation, intramedullary edema, and hemosiderin deposition. Gadolinium enhancement was homogenous in 8 cases (72.7%). The tumor margins were well demarcated in all cases. Conclusion: Intramedullary schwannoma should be considered when sharp margins and well-enhanced tumors are present at the cervical spine level and the initial symptoms are relatively mild, such as dysesthesia. When GTR cannot be achieved, STR for tumor decompression is recommended.