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901.
Tsukasa Ohashi Noriyuki Akasaka Yu Kobayashi Shinichi Magara Hideshi Kawashima Naomichi Matsumoto Hirotomo Saitsu Jun Tohyama 《Epileptic Disord》2014,16(2):208-212
We report a female patient who presented with intractable epileptic seizures, profound developmental delay since early infancy, and hyperkinetic movements with hand stereotypies. The patient initially developed focal seizures with multiple foci at 3 months of age. Thereafter, the seizures evolved to frequent episodes of hyperthermia‐induced status epilepticus. A novel de novo SCN1A mutation was identified by whole‐exome sequence analysis. This case demonstrates that SCN1A mutations may cause movement disorders as an atypical phenotype and the case history of this patient may expand our understanding of the clinical spectrum of SCN1A‐associated epileptic encephalopathy. [Published with video sequences] 相似文献
902.
Naoto Jingami Riki Matsumoto Hirotaka Ito Atsushi Ishii Yukiko Ihara Shinichi Hirose Akio Ikeda Ryosuke Takahashi 《Epileptic Disord》2014,16(2):227-231
Generalised (genetic) epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome with various phenotypes. The majority of individuals with GEFS+ have generalised seizure types, in addition to febrile seizures (FS) or febrile seizures plus (FS+), defined as either continued FS after 6 years of age or afebrile seizures following FS. A 27‐year‐old man with no history of FS/FS+ experienced intractable generalised convulsive seizures. The patient's father had a history of similar seizures during puberty and the patient's siblings had only FS. No individual in the family had both generalised seizures and FS/FS+, although GEFS+ might be considered to be present in the family. Analysis of SCN1A, a sodium channel gene, revealed a novel mutation (c.3250A>T [S1084C]) in the cytoplasmic loop 2 of SCN1A in both the patient and his father. Most previously reported SCN1A mutations in GEFS+ patients are located in the conserved homologous domains of SCN1A, whereas mutations in the cytoplasmic loops are very rare. SCN1A gene analysis is not commonly performed in subjects with generalised seizures without FS. SCN1A mutation may be a clinically‐useful genetic marker in order to distinguish GEFS+ patients from those with classic idiopathic generalised epilepsy, even if they present an atypical clinical picture. 相似文献
903.
904.
905.
Mitsuko Nakashima Hirofumi Kashii Yoshiko Murakami Mitsuhiro Kato Yoshinori Tsurusaki Noriko Miyake Masaya Kubota Taroh Kinoshita Hirotomo Saitsu Naomichi Matsumoto 《Neurogenetics》2014,15(3):193-200
Recessive mutations in genes of the glycosylphosphatidylinositol (GPI)-anchor synthesis pathway have been demonstrated as causative of GPI deficiency disorders associated with intellectual disability, seizures, and diverse congenital anomalies. We performed whole exome sequencing in a patient with progressive encephalopathies and multiple dysmorphism with hypophosphatasia and identified novel compound heterozygous mutations, c.250G>T (p. Glu84*) and c.1342C>T (p. Arg488Trp), in PIGT encoding a subunit of the GPI transamidase complex. The surface expression of GPI-anchored proteins (GPI-APs) on patient granulocytes was lower than that of healthy controls. Transfection of the Arg488Trp mutant PIGT construct, but not the Glu84* mutant, into PIGT-deficient cells partially restored the expression of GPI-APs DAF and CD59. These results indicate that PIGT mutations caused neurological impairment and multiple congenital anomalies in this patient. 相似文献
906.
Ryo Wada MD PhD Masaya Shinohara MD PhD Tadashi Fujino MD PhD Shingo Matsumoto MD PhD Shintaro Yao MD PhD Kensuke Yano MD Shintaro Dobashi MD PhD Katsuya Akitsu MD PhD Hideki Koike MD PhD Hiroshi Ohara MD PhD Toshio Kinoshita MD PhD Hitomi Yuzawa MD PhD Rine Nakanishi MD PhD Takanori Ikeda MD PhD 《Pacing and clinical electrophysiology : PACE》2023,46(1):73-83
907.
908.
A. Sakai S. Ikeda N. Okimoto H. Matsumoto K. Teshima Y. Okazaki F. Fukuda S. Arita H. Tsurukami M. Nagashima T. Yoshioka 《Osteoporosis international》2014,25(9):2245-2253
Summary
This multi-center, prospective, open-label, observational study evaluated the effects of once-monthly minodronate (50 mg) on treatment persistence, bone turnover markers, bone mineral density, low back pain, and upper gastrointestinal symptoms in outpatients with osteoporosis previously treated with daily or weekly bisphosphonate products.Introduction
The purposes of this study were to investigate the effects of once-monthly oral minodronate (MIN 50 mg) on bone turnover markers and bone mineral density, low back pain, and upper gastrointestinal symptoms, as well as preference for and treatment persistence of MIN 50 mg among Japanese osteoporosis patients currently treated with daily or weekly bisphosphonates.Methods
Study patients were allocated based on their preference to either the Switch group (patients willing to switch over to MIN 50 mg) or the Continue group (patients wanting to continue their current therapies). Patients’ treatment persistence and satisfaction levels with the therapies were assessed using a self-administered questionnaire. The study endpoints were serum TRACP-5b, serum P1NP, bone mineral density, upper gastrointestinal symptoms, and low back pain.Results
In total, 264 and 133 patients were allocated into the Switch and Continue groups, respectively. Approximately, 65 % of patients were willing to switch to MIN 50 mg, with the predominant reason being “less frequent dosing more convenient.” Treatment persistence was significantly higher in the Switch group (MIN 50 mg) than the Continue group. Almost all patients with abnormal bone metabolism markers demonstrated normalization after switchover. MIN 50 mg alleviated low back pain and upper gastrointestinal symptoms induced by prior bisphosphonate use.Conclusions
MIN 50 mg alleviates low back pain, reduces bone turnover markers and increases bone density, and induces fewer upper gastrointestinal symptoms after switchover from prior bisphosphonate products, and therefore, it may provide patients with a more convenient treatment option and enhance long-term treatment persistence. 相似文献909.
Koichiro Otani Yihao Deng Brian Waterman W. Claiborne Dunagan 《Health marketing quarterly》2014,31(4):370-382
Most patient satisfaction studies put an emphasis on finding key drivers (attribute) to increase overall patient satisfaction. However, it is not clear how much health care managers need to improve certain attributes to attain the target overall patient satisfaction level. The study aims at finding not only what attributes, but also how much these attributes need to be improved to attain the target levels of patient satisfaction. The study uses an ordinal logistic regression model to analyze attribute reactions to salient drivers. This approach would significantly enhance health care managers' capabilities to develop a strategic plan to improve their patient satisfaction levels. 相似文献
910.
Doo‐Yi Oh Yoshihiro Matsumoto Shin‐ichiro Kitajiri Nayoung K.D. Kim Min Young Kim Ah Reum Kim Mingyu Lee Chung Lee Alan E. Tomkinson Tatsuya Katsuno So Young Kim Hyun‐Woo Shin Jin Hee Han Seungmin Lee Woong‐Yang Park Byung Yoon Choi 《Human mutation》2020,41(5):913-920
DNA polymerase δ, whose catalytic subunit is encoded by POLD1, is responsible for synthesizing the lagging strand of DNA. Single heterozygous POLD1 mutations in domains with polymerase and exonuclease activities have been reported to cause syndromic deafness as a part of multisystem metabolic disorder or predisposition to cancer. However, the phenotypes of diverse combinations of POLD1 genotypes have not been elucidated in humans. We found that five members of a multiplex family segregating autosomal recessive nonsyndromic sensorineural hearing loss (NS‐SNHL) have revealed novel compound heterozygous POLD1 variants (p.Gly1100Arg and a presumptive null function variant, p.Ser197Hisfs*54). The recombinant p.Gly1100Arg polymerase δ showed a reduced polymerase activity by 30–40%, but exhibited normal exonuclease activity. The polymerase activity in cell extracts from the affected subject carrying the two POLD1 mutant alleles was about 33% of normal controls. We suggest that significantly decreased polymerase δ activity, but not a complete absence, with normal exonuclease activity could lead to NS‐SNHL. 相似文献