RESUMEN
[Purpose] Quadriceps muscle strength is essential for daily living activities. Therefore, we developed a compact and simple lower limb muscle strength measuring device (LocomoScan [LCS]). This study aimed to compare LCS with other instruments to analyze its simplicity, reproducibility, and accuracy. [Participants and Methods] One hundred and four healthy university students (56 males and 48 females) were included in the study. The knee extension force was measured using LCS, and the knee extension torque was measured using other devices (Cybex). In addition, lower leg muscle mass was measured using a body composition meter. The reproducibility of LCS and the correlation between the knee extension torque and lower leg muscle mass were evaluated. [Results] The measurement reproducibility of LCS was significantly higher. The knee extension force confirmed the proportional relative reliability of Cybex with knee extension torque. A relationship between knee extension force and lower limb muscle mass was also observed, indicating that muscle mass cannot be estimated as muscle strength. [Conclusion] The high reproducibility of the knee extension force measurement using LCS demonstrates its potential as a portable alternative instrument for muscle strength measurement in clinical practice. Therefore, LCS device is a simple and effective tool for assessing muscle strength.
RESUMEN
Purpose: No report has proven how tibial and femoral joint-line inclinations affect thigh and shank motion, respectively, according to Kellgren-Lawrence grade in motion analysis with a sufficient sample size. Therefore, this study aimed to evaluate the motion of the thigh and shank individually from the ground and the relative motion between bones in a large-sample motion analysis to determine the differences between normal and osteoarthritic knees and examine the effects of tibial and femoral joint-line inclination on motion according to osteoarthritis (OA) grade. Methods: Of 459 participants with healthy knees and varus knee OA undergoing three-dimensional gait analysis, 383 (218 females and 165 males) with an average age of 68 ± 13 years were selected. Gait analysis was performed using a motion-capture system. The six degrees of freedom motion parameters of the knee in the Grood and world coordinate systems and the joint-line inclination in the standing radiographs were measured. Results: Osteoarthritic knees demonstrated a relative motion different from that of normal knees, with responsibility for the thigh in the sagittal and rotational planes and the thigh and shank in the coronal plane. The involvement of joint-line inclination in motion was mainly on the tibial side, and the effect was minimal in normal knees. Conclusions: The details of the relative motion of both the thigh and shank can be clarified by analysing individual motions to determine the responsible part. The tibial joint-line affected knee motion: however, the effect was minimal in normal knees. This finding implies that if physical ability can be improved, the negative effects of deformity in osteoarthritic knees may be compensated for. Level of Evidence: Level â ¡.
Asunto(s)
Colágeno Tipo VII , Epidermólisis Ampollosa Distrófica , Humanos , Epidermólisis Ampollosa Distrófica/genética , Epidermólisis Ampollosa Distrófica/patología , Epidermólisis Ampollosa Distrófica/diagnóstico , Colágeno Tipo VII/genética , Mutación , Masculino , Piel/patología , Análisis Mutacional de ADN , Femenino , Genes RecesivosRESUMEN
To summarize the current therapies for skin cancers, the Japanese Skin Cancer Society issued the first guidelines for skin cancers, including melanoma, squamous cell carcinoma, basal cell carcinoma (BCC), and extramammary Paget's disease, in 2007. These guidelines were revised in 2015. Herein, we present the English version of the 2021 edition of the Japanese clinical guidelines for BCC. In the latest edition, all procedures were performed according to the Grading of Recommendations, Assessment, Development and Evaluation systems. The clinical questions that could not be answered were selected for further analysis. A comprehensive literature search, systematic review, and recommendations for each clinical question were determined by a multidisciplinary expert panel comprising dermatologists, a plastic and reconstructive surgeon, and a pathologist. Surgical resection is the gold-standard therapy of BCC. Radiotherapy or topical treatments, other than surgical resection, have been used in some cases. Patients with unresectable or metastatic BCC require systemic therapy. Novel agents, such as immune response modifiers or hedgehog pathway inhibitors, are emerging worldwide for the treatment of BCC. Based on these viewpoints, four relevant clinical questions regarding, surgical resection, radiotherapy, topical treatment, and systemic therapy, were raised in this report that aims to help clinicians select suitable therapies for their patients.
Asunto(s)
Carcinoma Basocelular , Neoplasias Cutáneas , Humanos , Carcinoma Basocelular/terapia , Carcinoma Basocelular/patología , Carcinoma Basocelular/diagnóstico , Neoplasias Cutáneas/terapia , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/diagnóstico , Japón , Dermatología/normas , Sociedades Médicas/normas , Antineoplásicos/uso terapéutico , Pueblos del Este de AsiaRESUMEN
Pathogenic variants in ABCA12 are important causative genetic defects for autosomal recessive congenital ichthyoses (ARCI), which include congenital ichthyosiform erythroderma (CIE), harlequin ichthyosis, and lamellar ichthyosis. In addition, pathogenic variants in ABCA12 are known to cause a localized nevoid form of CIE due to recessive mosaicism. We previously reported siblings who carried an ABCA12 variant but did not show a "congenital" phenotype. They were considered to have pityriasis rubra pilaris (PRP). Here, we present a further patient with ABCA12 variants whose phenotype was not congenital ichthyosis, in an independent family. Notably, these three patients had geographic unaffected areas. Such areas are not usually found in patients with ARCI who have ABCA12 variants, suggesting mild phenotypes for these patients. Interestingly, the histological features of the ichthyotic lesions in these patients resembled those of PRP. All three patients had homozygous pathogenic missense variants in ABCA12. Our findings expand the phenotypic spectrum of patients with ABCA12 variants.
Asunto(s)
Eritrodermia Ictiosiforme Congénita , Ictiosis Lamelar , Ictiosis , Pitiriasis Rubra Pilaris , Humanos , Pitiriasis Rubra Pilaris/genética , Ictiosis Lamelar/genética , Eritrodermia Ictiosiforme Congénita/genética , Eritrodermia Ictiosiforme Congénita/patología , Fenotipo , Mutación , Transportadoras de Casetes de Unión a ATP/genéticaAsunto(s)
Dermatitis Herpetiforme , Inhibidores de la Dipeptidil-Peptidasa IV , Pénfigo , Humanos , Pénfigo/diagnóstico , Pénfigo/tratamiento farmacológico , Desmocolinas , Inhibidores de la Dipeptidil-Peptidasa IV/efectos adversos , Autoanticuerpos , Dipeptidil-Peptidasas y Tripeptidil-Peptidasas , Dermatitis Herpetiforme/diagnóstico , Dermatitis Herpetiforme/tratamiento farmacológicoAsunto(s)
Dermatosis Bullosa IgA Lineal , Psoriasis , Anomalías Cutáneas , Enfermedades de la Piel , Humanos , Dermatosis Bullosa IgA Lineal/inducido químicamente , Dermatosis Bullosa IgA Lineal/diagnóstico , Pemetrexed/efectos adversos , Nivolumab/efectos adversos , Vesícula/inducido químicamente , Psoriasis/tratamiento farmacológico , Inmunoglobulina ARESUMEN
3-Methylglutaconic aciduria type 1 (MGCA1) is an inborn error of leucine catabolism caused by pathogenic variants of the AUH gene. MGCA1 can be identified by newborn screening (NBS) with elevated C5-OH levels. We herein report a girl with MGCA1 detected by NBS. On day 5 after birth, NBS detected high C5-OH levels of 1.17 µmol/L (1.56 µmol/L [retest]). A urinary organic acid analysis revealed the abnormal excretion of 3-methylglutaconic, 3-methylglutaric, and 3-hydroxyisovaleric acids. Two novel heterozygous loss-of-function variants in the AUH gene were identified by genetic testing. We observed the patient without any treatment, such as a leucine-restricted diet. She had episodes of febrile illness several times in infancy but did not develop febrile convulsions or encephalopathy. She is now two years and six months old, and her physical growth and psychomotor development have progressed normally. In a review of the literature and our case, four children with MGCA1 identified during the neonatal period were asymptomatic or exhibited speech delay, regardless of whether or not they had been managed with specific treatments. Treatments such as dietary leucine restriction and carnitine supplementation may have little effect on MGCA1 in childhood; however, further investigation is warranted to evaluate the benefits of specific treatments to prevent potential long-term neurological complications.
Asunto(s)
Autoanticuerpos , Desmogleína 3 , Linfoma Folicular , Síndromes Paraneoplásicos , Pénfigo , Humanos , Pénfigo/inmunología , Pénfigo/diagnóstico , Pénfigo/patología , Pénfigo/complicaciones , Linfoma Folicular/complicaciones , Linfoma Folicular/diagnóstico , Linfoma Folicular/inmunología , Linfoma Folicular/patología , Linfoma Folicular/tratamiento farmacológico , Síndromes Paraneoplásicos/inmunología , Síndromes Paraneoplásicos/diagnóstico , Síndromes Paraneoplásicos/etiología , Síndromes Paraneoplásicos/patología , Desmogleína 3/inmunología , Autoanticuerpos/sangre , Autoanticuerpos/inmunología , Masculino , Piel/patología , Piel/inmunología , Femenino , Persona de Mediana Edad , AncianoRESUMEN
Introduction: Recent studies have suggested associations between RNF213 variants and the formation of periventricular anastomosis among patients with moyamoya disease, leading to early onset of cerebral hemorrhage and rebleeding. Case description: We report herein the case of a boy with Down syndrome and moyamoya syndrome. Exome sequencing identified a heterozygous RNF213 R4810K variant. After ischemic stroke occurred at 9 years old, indirect surgical revascularization was performed for the left cerebral hemisphere and improved ischemic symptoms and cerebral hypoperfusion, while the left choroidal anastomosis remained. At 13 years old, he presented with left thalamic hemorrhage attributed to the anterior choroidal artery, with rebleeding observed four days after the initial hemorrhage under strict blood pressure control. The patient was discharged without neurological deficits 20 days after the hemorrhagic stroke. Conclusion: Presence of an RNF213 variant and choroidal anastomosis may represent risk factors for cerebral hemorrhage in patients with Down syndrome and moyamoya syndrome, as well as in patients with moyamoya disease.
RESUMEN
Therapeutic advantages of immune checkpoint inhibitors, anti-programmed death-1 (PD-1), and anticytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) in melanoma have been reported recently. In this study, we conducted a retrospective study to evaluate the clinical efficacy and safety of the combined use of nivolumab and ipilimumab as a first-line therapy for Japanese patients with advanced melanoma. Moreover, we examined the effects of second-line treatment. Seven patients were enrolled in this study. The median progression-free survival (PFS) and median overall survival (OS) were 7 months (95%CI, 1.868-12.132) and 12 months (95%CI, 0.000- 27.397), respectively. The objective response rate (ORR) and the disease control rate (DCR) were 42.9 % and 85.7 %. Three patients chose pembrolizumab monotherapy as second-line therapy after the combination therapy due to their BRAF wild-type status, which resulted in progressive disease. ORR and DCR were 0% and 33.3%, respectively, with pembrolizumab. Grade 3 or 4 immune-related adverse events occurred in 71.4% of the patients treated with the combined-therapy. All irAEs were treated with corticosteroid or hormone replacement therapy. Although this single center retrospective study had some limitations, it demonstrated good efficacy for the combined use of nivolumab and ipilimumab as a first-line therapy for Japanese patients with advanced melanoma. Moreover, poor efficacy was observed for the second-line therapy after the combined therapy. These findings suggest that a novel second-line therapy is required for patients with advanced melanoma in Japan, particularly for patients with wildtype BRAF.
Asunto(s)
Melanoma , Nivolumab , Humanos , Nivolumab/efectos adversos , Ipilimumab/efectos adversos , Estudios Retrospectivos , Proteínas Proto-Oncogénicas B-raf/genética , Proteínas Proto-Oncogénicas B-raf/uso terapéutico , Japón , Melanoma/tratamiento farmacológico , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversosRESUMEN
PURPOSE: The longitudinal changes in alignment and structure, including the joint line and cortical bone thickness (CBT) of the femur and tibia, and knee phenotype in patients with knee osteoarthritis (OA) remain unknown. The aim of this retrospective study was to clarify the longitudinal changes in matched healthy subjects. METHODS: The follow-up Matsudai Knee Osteoarthritis Survey was administered between 23 and 28 years. This study included 285 healthy knees from 235 females with an average age of 53 ± 6 years at baseline. The non-OA individuals, with an average age of 79 ± 4 years, were divided into three groups at baseline according to their follow-up radiographic results [the non-OA (n = 52), early OA (n = 131), and advanced OA groups (n = 102)]. Changes in alignment, joint line, CBT, and knee phenotype were assessed at baseline and at follow-up using standing anteroposterior radiographs. RESULTS: This study showed significant varus changes in the alignment (p < 0.001) and tibial and femoral joint line parameters (p < 0.05) in the OA group. Decreased CBT and increased mediolateral CBT ratios were observed in all groups (p < 0.001). The knee phenotypes in the OA groups were changed to varus angles, especially in the alignment and tibial joint line. CONCLUSIONS: The longitudinal changes of knee phenotypes in alignment and structure (CBT and joint line) from baseline to follow-up were shown in the OA groups. In addition, alignment and tibial structural factors at baseline are useful in predicting the incidence of knee OA in daily practice. LEVELS OF EVIDENCE: III.
RESUMEN
Bullous pemphigoid (BP) is an autoimmune subepidermal blistering disease (sAIBD). In addition to disease causing autoantibodies, several leukocyte subsets, including mast cells and eosinophils, play key roles in mediating skin inflammation. Detailed immunophenotyping and, more recently, the therapeutic effects of interleukin-4 (IL-4) receptor alpha inhibition in BP pointed to a prominent role of T helper 2 (Th2) cells. Among other cell types, IL-9 is expressed by Th2 and mast cells and potentially drives allergic, Th2-dominated inflammation. Although cytokines in BP have been relatively well investigated, the role of IL-9 has remained enigmatic. This study aimed to evaluate the effect of IL-9 in BP. Serum IL-9 levels were significantly elevated in patients with BP and decreased upon induction of remission. Serum IL-9 levels were not elevated in epidermolysis bullosa acquisita, another sAIBD. The time-course analysis using serum sets from four patients with BP revealed that serum IL-9 was a sensitive biomarker of BP. IL-9-positive cells infiltrated dominantly in BP lesions, especially in the blister fluid, and Th9 cells were abundant. Therefore, IL-9 was elevated in the serum and lesions of BP, which could be a biomarker of BP.