CPPD crystal deposition disease of the cervical spine: A common cause of acute neck pain encountered in the neurology department

Background: Calcium pyrophosphate dihydrate (CPPD) crystal deposition disease is one of the most common forms of crystal-associated arthropathy in the elderly. However, CPPD deposition on the cervical spine is less well known, and only a limited number of cases have been reported to date. Here, we report our recent clinical experience with CPPD crystal deposition disease of the cervical spine and describe the clinical features of this disease. Methods: Fourteen patients with clinically diagnosed CPPD crystal deposition disease of the cervical spine at our department during the period from January 2005 to December 2008 were analyzed retrospectively. Results: Patients ranged in age from 54 to 92 (mean +/- SD, 77.5 +/- 8.5). Chief symptoms of patients were acute posterior neck pain and fever. All patients had markedly restricted neck rotation. Serum CRP level was highly elevated in all patients (10.16 +/- 5.35 mg/dL). Computed tomography of the cervical spine demonstrated linear calcific deposits in the transverse ligament of atlas (crowned dens syndrome) in all patients. Calcific deposits were also found in other periodontoid structures and the ligamenta flava in some patients. Posterior neck pain, fever, and increased serum inflammatory indicators were relieved within 1 to 3 weeks by nonsteroidal antiinflammatory drugs (NSAIDs) or a combination of NSAIDs and prednisolone. Most of the patients were misdiagnosed as having other diseases before consultation. Conclusions: CPPD crystal deposition disease of the cervical spine is one of the most common underrecognized causes of acute neck pain in the neurology department, especially in elderly patients.ArticleJOURNAL OF THE NEUROLOGICAL SCIENCES. 296(1-2):79-82 (2010)journal articl

Successful Pregnancy and Lactation Outcome in a Patient With Gaucher Disease Receiving Enzyme Replacement Therapy, and the Subsequent Distribution and Excretion of Imiglucerase in Human Breast Milk

Background: Enzyme replacement therapy (ERT) with imiglucerase is a well-established, effective treatment for Gaucher disease. However, there have been no published reports regarding the excretion of imiglucerase into human breast milk and its effects on the nursing infant. Objective: This letter reports on the successful pregnancy and lactation of a patient with Gaucher disease receiving treatment with imiglucerase, and the subsequent distribution and excretion of imiglucerase in human breast milk. Methods: A 39-year-old Japanese female (height, 164 cm; weight, 55 kg) with Gaucher disease had 2 successful pregnancies and continued ERT through both. The study was conducted 6 months after the first delivery. She was administered a 1-hour infusion of imiglucerase 60 U/kg that coincided with her regular every-2-week regimen. Serum and breast-milk samples were obtained before and up to 24 hours after administration. Breast-milk samples were also obtained from 10 nursing mothers with galactorrhea as controls. Results: The preinfusion level of breast-milk beta-glucocerebrosidase was 0.008 nmol/h/mL. The peak of serum beta-glucocerebrosidase activity (0.119 nmol/h/mL) was obtained at the end of the 1-hour infusion period. Slightly increased enzymatic activity (0.016 nmol/h/mL) was observed in the first breast milk sampled after imiglucerase infusion. Conclusions: We report a case of successful pregnancy and breastfeeding in a Japanese patient with Gaucher disease. A small amount of imiglucerase was found to be excreted into human breast milk, but only in the first milk produced after infusion. (Clin Ther. 2010;32:2048-2052)ArticleCLINICAL THERAPEUTICS. 32(12):2048-2052 (2010)journal articl

Quantitative Analysis of Endocardial and Epicardial Left Ventricular Myocardial Deformation in Patients with Cardiac Amyloidosis

Article信州医学雑誌 67(1): 49-62(2019)journal articl

Statistical potentials for RNA-protein interactions optimized by CMA-ES

Characterizing RNA-protein interactions remains an important endeavor, complicated by the difficulty in obtaining the relevant structures. Evaluating model structures via statistical potentials is in principle straight-forward and effective. However, given the relatively small size of the existing learning set of RNA-protein complexes optimization of such potentials continues to be problematic. Notably, interaction-based statistical potentials have problems in addressing large RNA-protein complexes. In this study, we adopted a novel strategy with covariance matrix adaptation (CMA-ES) to calculate statistical potentials, successfully identifying native docking poses

A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea

A Japanese family with a novel nonsense mutation in the TITF-1 gene (p.Y98X) is described. The proband showed severe generalized chorea, delayed motor development, subnormal intelligence, congenital hypothyroidism, bronchial asthma, and a history of pulmonary infection, all of which are characteristic features of Brain-Thyroid-Lung syndrome. On the other hand, her brother and mother showed a mild benign hereditary chorea (BHC) phenotype with congenital hypothyroidism. Intrafamilial phenotypic variation is common in BHC/Brain-Thyroid-Lung syndrome and suggests the existence of other genetic or environmental factors regulating TITF-1 function. Although choreic movement in BHC/Brain-Thyroid-Lung syndrome is recognized as non-progressive, the proband showed re-exacerbation of choreic movement at puberty. The dopamine agonist, ropinirole hydrochloride, reduced her choreic movements, suggesting that levodopa and/or dopamine agonists may compensate for underdeveloped dopaminergic pathways in this disorder.ArticleJOURNAL OF THE NEUROLOGICAL SCIENCES. 313(1-2):189-192 (2012)journal articl

Therapeutic Outcome of Lenalidomide-dexamethasone in Patients with Relapsed or Refractory Systemic Immunoglobulin Light Chain (AL) Amyloidosis : A Single-center Analysis and Review of the Literature

Article信州医学雑誌 70(1) : 29-38(2022)departmental bulletin pape

Benign intracranial hypertension and leukoencephalopathy due to venous sinus stenosis in an SLE patient

The final, definitive version of this article has been published in the Journal, LUPUS, 16/10, 2007, © SAGE Publications Ltd, 2007 by SAGE Publications Ltd at the LUPUS page: http://lup.sagepub.com/ on SAGE Journals Online: http://online.sagepub.com/ArticleLUPUS. 16(10): 839-840 (2007)journal articl

Upper limb neuropathy such as carpal tunnel syndrome as an initial manifestation of ATTR Val30Met familial amyloid polyneuropathy

This is an electronic version of an article published in Amyloid 2010, Vol. 17, No. 1 : Pages 32-35. Amyloid is available online at: http://informahealthcare.com/doi/pdf/10.3109/13506121003619369We report here two patients with amyloidogenic transthyretin (ATTR) Val30Met familial amyloid polyneuropathy (FAP) who developed numbness in both hands and were diagnosed as having bilateral carpal tunnel syndrome (CTS). In both patients systemic TTR amyloidosis consisting of polyneuropathy affecting both upper and lower limbs and/or autonomic dysfunction gradually appeared after surgery for CTS. Although CTS associated with TTR amyloidosis has been known as an initial symptom in some patients with ATTR non-Val30Met FAP and those with senile systemic amyloidosis, this is the first report of ATTR Val30Met FAP patients starting with upper limb neuropathy including CTS-like symptoms. It is also notable that both patients had no genealogical relationship with two Japanese endemic foci of this disease.ArticleAMYLOID. 17(1):32-35 (2010)journal articl

Elderly patient with 5q spinal muscular atrophy type 4 markedly improved by Nusinersen

Available online 17 May 2020.ArticleJournal of the Neurological Sciences.415:116901(2020)journal articl