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  • 1
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    Online Resource
    DNA Methylation Status of 〈b〉〈i〉SHOX〈/i〉〈/b〉-Flanking CpG Islands in Healthy Individuals and Short Stature Patients with Pseudoautosomal Copy Number Variations
    S. Karger AG ; 2019
    In:  Cytogenetic and Genome Research Vol. 158, No. 2 ( 2019), p. 56-62
    Details
    In: Cytogenetic and Genome Research, S. Karger AG, Vol. 158, No. 2 ( 2019), p. 56-62
    Abstract: 〈 i 〉 SHOX 〈 /i 〉 resides in the short arm pseudoautosomal region (PAR1) of the sex chromosomes and escapes X inactivation. 〈 i 〉 SHOX 〈 /i 〉 haploinsufficiency underlies idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD). A substantial percentage of cases with 〈 i 〉 SHOX 〈 /i 〉 haploinsufficiency arise from pseudoautosomal copy number variations (CNVs) involving putative enhancer regions of 〈 i 〉 SHOX 〈 /i 〉 . Our previous study using peripheral blood samples showed that some CpG dinucleotides adjacent to 〈 i 〉 SHOX 〈 /i 〉 exon 1 were hypomethylated in a healthy woman and methylated in a woman with gross X chromosomal rearrangements. However, it remains unknown whether submicroscopic pseudoautosomal CNVs cause aberrant DNA methylation of 〈 i 〉 SHOX 〈 /i 〉 -flanking CpG islands. In this study, we examined the DNA methylation status of 〈 i 〉 SHOX 〈 /i 〉 -flanking CpG islands in 50 healthy individuals and 10 ISS/LWD patients with pseudoautosomal CNVs. In silico analysis detected 3 CpG islands within the 20-kb region from the translation start site of 〈 i 〉 SHOX 〈 /i 〉 . Pyrosequencing and bisulfite sequencing of genomic DNA samples revealed that these CpG islands were barely methylated in peripheral blood cells and cultured chondrocytes of healthy individuals, as well as in peripheral blood cells of ISS/LWD patients with pseudoautosomal CNVs. These results, in conjunction with our previous findings, indicate that the DNA methylation status of 〈 i 〉 SHOX 〈 /i 〉 -flanking CpG islands can be affected by gross X-chromosomal abnormalities, but not by submicroscopic CNVs in PAR1. Such CNVs likely disturb 〈 i 〉 SHOX 〈 /i 〉 expression through DNA methylation-independent mechanisms, which need to be determined in future studies.
    Type of Medium: Online Resource
    ISSN: 1424-8581 , 1424-859X
    URL: Article
    DOI: 10.1159/000500468
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2019
    detail.hit.zdb_id: 2061918-2
    SSG: 12
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  • 2
    Online Resource
    Online Resource
    Unusual False-Positive Mesenteric Lymph Nodes Detected by PET/CT in a Metastatic Survey of Lung Cancer
    S. Karger AG ; 2016
    In:  Case Reports in Gastroenterology Vol. 10, No. 2 ( 2016-6-14), p. 275-282
    Details
    In: Case Reports in Gastroenterology, S. Karger AG, Vol. 10, No. 2 ( 2016-6-14), p. 275-282
    Abstract: Positron emission tomography/computed tomography (PET/CT) is a credible diagnostic modality for detecting primary and metastatic malignancy. PET/CT sometimes shows false positives and negatives, which make clinical diagnosis difficult. A 42-year-old man who had undergone right upper lobectomy for lung cancer 1 year previously had PET/CT for a metastatic survey of the lung. The lung cancer was stage IB (pT2N0M0) bronchioloalveolar carcinoma. PET/CT showed massive 〈 sup 〉 18 〈 /sup 〉 F-fluorodeoxyglucose (FDG) uptake in the mesenteric lymph nodes. Because the mesentery is an unusual site of metastasis, the patient was under watchful observation. Another PET/CT after 6 months still showed FDG uptake in the same location, with a slightly increased standard uptake value. A systemic survey was performed, but it did not reveal any malignancies or inflammatory diseases. Eventually, the patient underwent probing laparoscopic surgery. For complete resection of the lymph nodes, laparoscopic ileocecal resection was performed. Histologically, the resected lymph nodes showed reactive lymphadenitis. Glucose transporter 1 immunostainings of the lung cancer and the lymph node were positive and partially positive, respectively. Although PET/CT is a powerful diagnostic modality, clinical interpretation of unusual results is difficult.
    Type of Medium: Online Resource
    ISSN: 1662-0631
    URL: Article
    DOI: 10.1159/000446579
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2016
    detail.hit.zdb_id: 2440540-1
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  • 3
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    Online Resource
    Comparative Impact of Isolated Ultrafiltration and Hemodialysis on Fluid Distribution: A Bioimpedance Study
    S. Karger AG ; 2022
    In:  Blood Purification Vol. 51, No. 6 ( 2022), p. 492-502
    Details
    In: Blood Purification, S. Karger AG, Vol. 51, No. 6 ( 2022), p. 492-502
    Abstract: 〈 b 〉 〈 i 〉 Introduction: 〈 /i 〉 〈 /b 〉 Isolated ultrafiltration (IUF) is an alternative treatment for diuretic-resistant patients with fluid retention. Although hemodialysis (HD) predominantly decreases extracellular water (ECW), the impact of IUF on fluid distribution compared with HD remains unclear. 〈 b 〉 〈 i 〉 Methods: 〈 /i 〉 〈 /b 〉 We compared the effect of HD ( 〈 i 〉 n 〈 /i 〉 = 22) and IUF ( 〈 i 〉 n 〈 /i 〉 = 10) sessions on the body fluid status using a bioimpedance analysis device (InBody S10). 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 The total ultrafiltration volume was similar between HD and IUF (HD 2.5 ± 0.3 vs. ICF 2.1 ± 0.3 L/session, 〈 i 〉 p 〈 /i 〉 = 0.196). The reduction rate of ECW was significantly higher than that of intracellular water (ICW) after HD (ECW −7.9% ± 0.8% vs. ICW −3.0% ± 0.9%, 〈 i 〉 p 〈 /i 〉 & #x3c; 0.001) and IUF (ECW −5.8% ± 0.9% vs. ICW -3.6% ± 0.8%, 〈 i 〉 p 〈 /i 〉 = 0.048). However, the change in the ratio of ECW to total body water in HD was significantly larger than that in IUF (HD −3.2% ± 0.3% vs. ICF −1.1% ± 0.4%, 〈 i 〉 p 〈 /i 〉 & #x3c; 0.001). The reduction rates in serum tonicity (effective osmolality) were higher after HD than after IUF (HD −1.8% ± 0.5% vs. IUF −0.6% ± 0.2%, 〈 i 〉 p 〈 /i 〉 = 0.052). Among the components of effective osmolality, the reduction rates of serum K 〈 sup 〉 + 〈 /sup 〉 and glucose levels after HD were significantly higher than those after IUF (serum K 〈 sup 〉 + 〈 /sup 〉 : HD −30.5% ± 1.6% vs. IUF −0.5% ± 3.8%, 〈 i 〉 p 〈 /i 〉 & #x3c; 0.001; serum glucose: HD −15.4% ± 5.0% vs. IUF 0.7% ± 4.8%, 〈 i 〉 p 〈 /i 〉 = 0.026), while the serum Na 〈 sup 〉 + 〈 /sup 〉 level was slightly and similarly reduced (HD −0.8% ± 0.4% vs. IUF −0.8% ± 0.4%, 〈 i 〉 p 〈 /i 〉 = 0.500). The reduction in the osmolal gap value (measured osmolality–calculated osmolarity) was significantly greater after HD sessions than after IUF sessions (HD −12.4 ± 1.4 vs. IUF 2.0 ± 1.0 mOsm/kg, 〈 i 〉 p 〈 /i 〉 = 0.001). 〈 b 〉 〈 i 〉 Conclusion: 〈 /i 〉 〈 /b 〉 The extracellular fluid reduction effect of HD is stronger than that of IUF. The different changes in effective osmolality and osmolal gap after HD and IUF sessions may be related to the different effects of HD and IUF on fluid distribution.
    Type of Medium: Online Resource
    ISSN: 0253-5068 , 1421-9735
    URL: Article
    DOI: 10.1159/000518228
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2022
    detail.hit.zdb_id: 1482025-0
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  • 4
    Online Resource
    Online Resource
    Arrest Reaction in Man
    S. Karger AG ; 1978
    In:  Stereotactic and Functional Neurosurgery Vol. 41, No. 1-4 ( 1978), p. 209-216
    Details
    In: Stereotactic and Functional Neurosurgery, S. Karger AG, Vol. 41, No. 1-4 ( 1978), p. 209-216
    Abstract: In spite of many reports of arrest reaction in animals, there are very few reports in man. During a therapeutic stereotactic operation we observed peculiar phenomena caused by electrical stimulation to the deep structure of the cerebrum. This phenomenon is quite similar to that reported by Van Buren, but there are a few differences between them. Arrest reaction was observed in 14 of 23 cases, 17 of 28 tracks. Stimuli which caused the arrest reaction were 60–100 Hz square waves of 1 msec duration and 5–15 V. The electrical stimulation caused an interruption of counting and other motor actions, which could be resumed following release of stimuli. Psychic confusion or memory disturbances were not observed with the exception of a few cases. The arrest reaction that we observed is thought to be due to a direct effect on the head of the caudate nucleus, not due to secondary effects on the internal capsule and the motor fiber in the vicinity of the caudate nucleus. However, the possibility that the current spread to the motor fiber cannot be definitely ruled out.
    Type of Medium: Online Resource
    ISSN: 1011-6125 , 1423-0372
    URL: Article
    DOI: 10.1159/000102418
    Language: English
    Publisher: S. Karger AG
    Publication Date: 1978
    detail.hit.zdb_id: 1483576-9
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  • 5
    Online Resource
    Online Resource
    Safety Verification Trials of mFOLFIRI and Sequential IRIS + Bevacizumab as First- or Second-Line Therapies for Metastatic Colorectal Cancer in Japanese Patients
    S. Karger AG ; 2012
    In:  Oncology Vol. 83, No. 2 ( 2012), p. 101-107
    Details
    In: Oncology, S. Karger AG, Vol. 83, No. 2 ( 2012), p. 101-107
    Abstract: 〈 b 〉 〈 i 〉 Objective: 〈 /i 〉 〈 /b 〉 S-1 is effective in sequential combination with irinotecan (IRIS) in treating metastatic colorectal cancer. We conducted a randomized phase II trial of modified leucovorin, fluorouracil and irinotecan (mFOLFIRI) + bevacizumab and sequential IRIS + bevacizumab as first- or second-line therapies. 〈 b 〉 〈 i 〉 Methods: 〈 /i 〉 〈 /b 〉 Sixty metastatic colorectal cancer patients were randomly assigned to receive mFOLFIRI + bevacizumab or sequential IRIS + bevacizumab (7.5 mg/kg of bevacizumab and 150 mg/m 〈 sup 〉 2 〈 /sup 〉 of irinitecan, and 80 mg/m 〈 sup 〉 2 〈 /sup 〉 /day of S-1 orally from day 3 until day 16 as a 3-week course). The primary endpoint was the safety of each method until week 12, with the secondary endpoint being the comparison of the safety and efficacy of the two methods. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 The safety of the two treatments was comparable, except that G3 anorexia and diarrhoea were less frequent with sequential IRIS + bevacizumab. The overall response rate was 62% [95% confidence interval (CI) 40.1–79.8] versus 72% (95% CI 50.6–86.2), and progression-free survival was 324 days (95% CI 247–475) versus 345 days (95% CI 312–594) with mFOLFIRI + bevacizumab versus IRIS + bevacizumab, respectively. 〈 b 〉 〈 i 〉 Conclusion: 〈 /i 〉 〈 /b 〉 Sequential IRIS + bevacizumab is a safe and effective method of systemic chemotherapy against metastatic colorectal cancer and is compatible with mFOLFIRI + bevacizumab.
    Type of Medium: Online Resource
    ISSN: 0030-2414 , 1423-0232
    URL: Article
    DOI: 10.1159/000339541
    RVK:
    XH 3305
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2012
    detail.hit.zdb_id: 1483096-6
    detail.hit.zdb_id: 250101-6
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  • 6
    Online Resource
    Online Resource
    In vivo Recording of Renal Pelvic Pacemaker Potential
    S. Karger AG ; 1984
    In:  Urologia Internationalis Vol. 39, No. 1 ( 1984), p. 16-20
    Details
    In: Urologia Internationalis, S. Karger AG, Vol. 39, No. 1 ( 1984), p. 16-20
    Type of Medium: Online Resource
    ISSN: 1423-0399 , 0042-1138
    URL: Article
    DOI: 10.1159/000280936
    RVK:
    XA 10000
    Language: English
    Publisher: S. Karger AG
    Publication Date: 1984
    detail.hit.zdb_id: 1464417-4
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  • 7
    Online Resource
    Online Resource
    Effect of Dibutyryl Cyclic Adenosine Monophosphate on Canine Pelviureteral Discharge Potentials
    S. Karger AG ; 1986
    In:  Urologia Internationalis Vol. 41, No. 2 ( 1986), p. 117-120
    Details
    In: Urologia Internationalis, S. Karger AG, Vol. 41, No. 2 ( 1986), p. 117-120
    Type of Medium: Online Resource
    ISSN: 1423-0399 , 0042-1138
    URL: Article
    DOI: 10.1159/000281179
    RVK:
    XA 10000
    Language: English
    Publisher: S. Karger AG
    Publication Date: 1986
    detail.hit.zdb_id: 1464417-4
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  • 8
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    Online Resource
    Association Between Physical Frailty and Sleep Disturbances Among Patients on Hemodialysis: A Cross-sectional Study
    S. Karger AG ; 2023
    In:  Nephron
    Details
    In: Nephron, S. Karger AG
    Abstract: Introduction Among patients on hemodialysis (HD), physical frailty and sleep disturbances are not only common but also associated with adverse outcomes. The aim of this study was to evaluate the association between physical frailty and sleep disturbances in patients on HD. Methods This cross-sectional study was conducted from June 2017 to March 2021, with outpatients receiving HD thrice a week at two dialysis facilities in Japan. Sleep disturbances were identified with the Athens Insomnia Scale (AIS). Physical frailty was defined using the Fried Frailty Phenotype. Patients were classified as “non-frailty (number of frailty components: 0–2)” or “frailty (3–5).” We examined the association of sleep disturbances with physical frailty and its components by performing a logistic regression analysis. Results We analyzed 360 patients (mean age 65.6 years; 62% men). Eighty-one patients (23%) were classified into the group with frailty, and the mean AIS score was 5.2±4.2points. After adjusting for clinical characteristics, increasing the AIS score per 1 point was associated with higher odds of physical frailty (odds ratio, 1.12; 95% confidence interval, 1.05–1.20; p 〈 0.01). As for the frailty components, exhaustion, low physical activity, and weak grip strength showed an association with sleep disturbances (all p 〈 0.05). Conclusions Sleep disturbances were independently associated with physical frailty in patients on HD. Future studies are warranted to investigate the causality between physical frailty and sleep disturbances in this population.
    Type of Medium: Online Resource
    ISSN: 1660-8151 , 2235-3186
    URL: Article
    DOI: 10.1159/000533418
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2023
    detail.hit.zdb_id: 2810853-X
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  • 9
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    Online Resource
    Self-Completion Method of Endoscopic Submucosal Dissection Using Endosaber without Any Other Device or Assistance: An ex vivo Porcine Model Study
    S. Karger AG ; 2021
    In:  Digestion Vol. 102, No. 2 ( 2021), p. 139-146
    Details
    In: Digestion, S. Karger AG, Vol. 102, No. 2 ( 2021), p. 139-146
    Abstract: Background: Endoscopic submucosal dissection (ESD) is a standard treatment for tumors of the gastrointestinal tract. We developed a self-completion method of ESD using Endosaber to eliminate the need for an additional device or human assistance during the procedure. The aim of this study was to evaluate the technical feasibility and outcomes of this method in an ex vivo porcine training model. Methods: This was a pilot study, and the procedures were performed by 4 experts. Mock lesions measuring 15 mm in diameter were prepared at the posterior wall in the middle or lower esophagus obtained from domestic pigs. Each operator performed ESD on the mock lesions in 3 models. The primary outcome was ESD completion rate using the self-completion method. The secondary outcomes were procedure time, en bloc resection rate, perforation rate, and number of injections during the procedure. Results: All 12 ESDs were completed using the self-completion method. The median procedure time (interquartile range) was 483.5 (399–619.3) s (median incision time: 240.4 [168.3–332.5] s; median dissection time: 222 [182.8–257] s). En bloc resection rate was 100%. No perforation was noted during any of the procedures. The median number of injections was 10.5 (9–14.3). The procedure time decreased significantly with increase in experience (p = 0.020). Conclusions: The self-completion ESD method using one Endosaber without any assistance achieved a 100% en bloc resection rate without any perforation. The need for an additional device or assistance was successfully eliminated. This method may prove to be a simple and cost-effective ESD procedure for lesions in humans.
    Type of Medium: Online Resource
    ISSN: 0012-2823 , 1421-9867
    URL: Article
    DOI: 10.1159/000502771
    RVK:
    XA 40650
    RVK:
    XA 10000
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2021
    detail.hit.zdb_id: 1482218-0
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  • 10
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    Online Resource
    Limitations of SARC-F as a Screening Tool for Sarcopenia in Patients on Hemodialysis
    S. Karger AG ; 2022
    In:  Nephron Vol. 146, No. 1 ( 2022), p. 32-39
    Details
    In: Nephron, S. Karger AG, Vol. 146, No. 1 ( 2022), p. 32-39
    Abstract: 〈 b 〉 〈 i 〉 Introduction: 〈 /i 〉 〈 /b 〉 There are limited screening tools for sarcopenia in patients undergoing hemodialysis. This study aimed to investigate the reliability and validity of the SARC-F (Strength, Assistance in walking, Rise from a chair, Climb stairs, and Falls) questionnaire as a screening tool for sarcopenia (defined by the Asian Working Group for Sarcopenia [AWGS2019]) in patients undergoing hemodialysis. 〈 b 〉 〈 i 〉 Methods: 〈 /i 〉 〈 /b 〉 This cross-sectional study enrolled 179 patients (mean age: 66.5 ± 12 years, 58% men) undergoing maintenance hemodialysis 3 times per week at a hemodialysis center in Japan. The SARC-F score, handgrip strength, usual gait speed, sit-to-stand test time, short physical performance battery (SPPB), and appendicular skeletal muscle mass were evaluated. The reliability and validity of the SARC-F were analyzed using receiver-operating characteristic curve, area under the curve (AUC), and sensitivity/specificity analyses. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 There were 49 (27.4%) patients with sarcopenia. Patients with SARC-F ≥4 (59 patients, 33.0%) had poorer grip strength, lower SPPB score, and slower gait speed than those with SARC-F & #x3c;4, while the skeletal muscle mass index did not differ significantly between the two groups. The sensitivity and specificity values of the SARC-F for identifying sarcopenia were 42.9% and 70.8%, respectively, while those for identifying severe sarcopenia were 66.7% and 72.3%, respectively. The AUCs of SARC-F were 0.57 for sarcopenia and 0.70 for severe sarcopenia. 〈 b 〉 〈 i 〉 Discussion/Conclusion: 〈 /i 〉 〈 /b 〉 The SARC-F alone is an inadequate screening tool for sarcopenia in patients undergoing hemodialysis. It should be used in combination with objective assessment measures, rather than as a first-step screening tool, to diagnose sarcopenia.
    Type of Medium: Online Resource
    ISSN: 1660-8151 , 2235-3186
    URL: Article
    DOI: 10.1159/000518810
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2022
    detail.hit.zdb_id: 2810853-X
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