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Muscle biopsy for inflammatory myopathies facilitates the direct observation of muscle pathology at the site of inflammation by obtaining a small amount of tissue for pathological diagnosis. In clinical settings, muscle pathology derived from a muscle biopsy provides information limited to the tissue sampled. Thus, clinical information must supplement this to ascertain whether the obtained muscle pathology aligns with patient clinical presentation of myositis. This paper discusses considerations for effectively utilizing muscle biopsy in diagnosing inflammatory muscle diseases in clinical practice. Additionally, we briefly explore interpreting the pathological findings of myositis obtained from biopsy samples.
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Músculo Esquelético , Miosite , Humanos , Biópsia , Miosite/patologia , Miosite/diagnóstico , Músculo Esquelético/patologiaRESUMO
Background: The global obesity epidemic is a significant public health issue, often leading to metabolic disorders such as diabetes and cardiovascular diseases. Collagen peptides (CP) and their bioactive component, Prolyl-hydroxyproline (Pro-Hyp), have shown potential in reducing adipocyte size, with unclear mechanisms concerning brown adipocyte differentiation. Methods: We investigated the effects of Pro-Hyp on the differentiation of brown adipocytes in C3H10T1/2 mesenchymal stem cells, focusing on its impact on adipocyte size, gene expression related to brown fat function, and mitochondrial activity. Results: Pro-Hyp treatment decreased adipocyte size and upregulated brown fat-specific genes, including C/EBPα, PGC-1α, and UCP-1. Remarkably, it did not alter PPARγ expression. Pro-Hyp also elevated mitochondrial activity, suggesting enhanced brown adipocyte functionality. A Pro-Hyp responsive element was identified in the PGC-1α gene promoter, which facilitated the binding of the Foxg1 transcription factor, indicating a novel regulatory mechanism. Conclusion: Pro-Hyp promotes brown adipocyte differentiation, potentially offering a therapeutic strategy for obesity management. This study provides a molecular basis for the anti-obesity effects of CP, although further in vivo studies are needed to confirm these findings and to investigate the potential impact on beige adipocyte differentiation.
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Doenças do Sistema Nervoso Periférico , Sarcoidose , Nervo Sural , Ultrassonografia , Humanos , Nervo Sural/patologia , Nervo Sural/diagnóstico por imagem , Sarcoidose/diagnóstico por imagem , Sarcoidose/patologia , Ultrassonografia/métodos , Doenças do Sistema Nervoso Periférico/diagnóstico por imagem , Doenças do Sistema Nervoso Periférico/patologia , Biópsia/métodos , Masculino , Pessoa de Meia-Idade , Feminino , AdultoAssuntos
Síncope , Humanos , Síncope/etiologia , Síncope/diagnóstico , Masculino , Proteína de Replicação C/genética , Recidiva , Feminino , AdultoRESUMO
A 77-year-old female with a subacute progression of ataxia and serum anti-Yo antibodies was suspected to have paraneoplastic cerebellar degeneration (PCD). An examination of an underlying cancer showed no abnormality in the gynecological organs, but the findings did show a mass in the Douglas fossa. The mass was resected and diagnosed as stage IIB peritoneal serous papillary carcinoma (PSPC), a rare gynecologic cancer that is difficult to diagnose in the early stages. PCD was treated with intravenous immunoglobulin (IVIG). For an early diagnosis and treatment, PSPC should be included in the list of malignancies that cause PCD with anti-Yo antibodies.
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17q12 deletion syndrome is a rare chromosomal anomaly with variable phenotypes, caused by the heterozygous deletion of chromosome 17q12. We herein report a 35-year-old Japanese patient with chromosomal 17q12 deletion syndrome identified by de novo deletion of the 1.46 Mb segment at the 17q12 band by genetic analyses. He exhibited a wide range of phenotypes, such as maturity-onset diabetes of the young (MODY) type 5, structural or functional abnormalities of the kidney, liver, and pancreas; facial dysmorphic features, electrolyte disorders; keratoconus, and acquired perforating dermatosis. This case report provides valuable resources concerning the clinical spectrum of rare 17q12 deletion syndrome.
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Doenças do Sistema Nervoso Central , Esmalte Dentário/anormalidades , Diabetes Mellitus Tipo 2 , Doenças Renais Císticas , Masculino , Humanos , Adulto , Japão , Face , HeterozigotoRESUMO
The European League Against Rheumatism/American College of Rheumatology (EULAR/ACR) classification criteria for idiopathic inflammatory myopathies (IIM) have been widely used in recent times. However, no studies have focused on electromyography (EMG) findings of IIM, considering the criteria. This study aimed to elucidate the frequency of EMG abnormalities, particularly fibrillation potentials and positive sharp waves (Fib/PSW), the most objective EMG findings of IIM. Clinical and EMG records of adult patients who were clinically diagnosed with polymyositis (PM), dermatomyositis (DM), amyopathic DM (ADM), or inclusion body myositis (IBM) were retrospectively reviewed and classified according to the EULAR/ACR classification criteria. The frequency of Fib/PSW in EMG was investigated in the recruited cases. Seventy-nine patients with clinically diagnosed IIM (44 with PM, 17 with DM, 7 with ADM, and 11 with IBM) were recruited. After classification using EULAR/ACR, 75 satisfied definite or probable IIM (61 and 14, respectively), and the frequency of Fib/PSW in this group was 95%. Furthermore, the remaining 4 patients with insufficient IIM probability also showed Fib/PSW. Fib/PSW may also be seen in cases with insufficient IIM probability not satisfying the criteria. EMG may help detect muscle involvement in these cases through Fib/PSW.
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Doenças do Colágeno , Dermatomiosite , Miosite de Corpos de Inclusão , Miosite , Doenças Reumáticas , Reumatologia , Adulto , Humanos , Estudos Retrospectivos , Miosite/diagnóstico , Dermatomiosite/diagnóstico , Miosite de Corpos de Inclusão/diagnósticoRESUMO
PURPOSE: The middle cluneal nerve (MCN) is a pure sensory nerve around the middle buttock. Its entrapment between the iliac crest and the long posterior sacroiliac ligament elicits low back pain (LBP) that can be treated by MCN neurolysis or neurectomy. Because few studies examined the pathology of MCN entrapment (MCN-E) we subjected 7 neurectomized specimens from 6 LBP patients to pathologic study. METHODS: We present 6 consecutive patients (7 sides) with intractable LBP who underwent successful MCN neurectomy. Their symptom duration ranged from 6 to 96 months (average 47.3 months); the follow-up period ranged from 6 to 17 months (average 11.7 months). The surgical outcomes were evaluated using the numerical rating scale (NRS) for LBP and the Roland-Morris Disability Questionnaire (RDQ) score. The resected MCNs underwent neuropathological analysis. RESULTS: Postoperatively, all 6 patients reported immediate LBP amelioration; their NRS and RDQ scores were improved significantly. Pathological study of the 7 resected nerves showed that the myelinated fiber density was decreased in 6 nerves; we observed marked enlargement (n = 5), perineurial thickening and disruption (n = 6), intrafascicular fibrous changes (n = 5), myelinated fibers separated by fibrous cells under the perineurium (n = 4), and Renaut bodies (n = 3). The 7th nerve appeared normal with respect to the density and size of the myelinated fibers, however, the perineurium was slightly thickened. CONCLUSION: We present pathological evidence at the MCN compression site of 7 nerves from 6 patients whose LBP was alleviated by MCN neurectomy, indicating that MCN entrapment can elicit LBP.
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Dor Crônica , Dor Lombar , Síndromes de Compressão Nervosa , Humanos , Nádegas , Dor Lombar/etiologia , Dor Lombar/cirurgia , Pesquisa , Síndromes de Compressão Nervosa/cirurgiaRESUMO
We herein report a 78-year-old woman with Gaucher disease (GD) who was initially diagnosed with GD type 1, had been receiving long-term enzyme replacement therapy since 58 years old, and developed neurological manifestations in her 70s. The neurological manifestations included myoclonic seizures and progressive cognitive decline. Although it is rare for GD patients to first develop neurologic manifestations at such an advanced age, physicians engaged in long-term care for GD patients should be alert for this possibility.
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Doença de Gaucher , Idoso , Feminino , Humanos , Terapia de Reposição de Enzimas , Doença de Gaucher/complicações , Doença de Gaucher/diagnóstico , Doença de Gaucher/tratamento farmacológico , Glucosilceramidase/uso terapêutico , Assistência de Longa Duração , Convulsões/etiologiaRESUMO
BACKGROUND: When frailty is considered in patient selection, better outcomes are achieved in transcatheter aortic valve replacement (TAVR) procedures. This study investigated whether patient photographs could be utilized to qualitatively assess patient frailty and independently predict poor outcomes following TAVR. METHODS: This study included 1345 patients with severe aortic stenosis who underwent TAVR at the Sakakibara Heart Institute, Japan, between 2013 and 2022. Patient photographs were taken prior to the initial outpatient clinic examination or at discharge in case the patient's first visit was unplanned admission. Frailty was assessed from patient photographs using a four-point photographic frailty scale; 1 (non-frail), 2 (vulnerable), 3 (mild frail), and 4 (frail). Photographic frailty scale of 3 and 4 were defined as high. The primary endpoint was all-cause mortality following TAVR. RESULTS: Seven hundred ninety-six patients who had their facial photographs taken within six months before the TAVR procedure were analyzed. Patients with a higher photographic frailty scale belonged to New York Heart Association classes III/IV, and had higher Society of Thoracic Surgeons scores, higher incidence of wheelchair usage, lower hemoglobin, and smaller aortic valve areas. According to the frailty assessment, patients with a higher photographic frailty scale exhibited slower performance in the 5-m walk test, reduced hand grip strength, more severe dementia, had a higher clinical frailty scale, and lower serum albumin level. Multivariable Cox regression analysis revealed that the high photographic frailty scale was independently associated with all-cause mortality (adjusted hazard ratio 1.62, 95â¯% confidence interval 1.12-2.33, pâ¯=â¯0.010). Kaplan-Meier analysis indicated that patients with high photographic frailty scale had higher all-cause mortality rates compared to those with low scale (log-rank pâ¯=â¯0.011). CONCLUSIONS: Patient registration photographs can be used to obtain qualitative assessments of frailty in severe aortic stenosis cases, and such assessments can independently predict poor outcomes following TAVR.
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Estenose da Valva Aórtica , Fragilidade , Substituição da Valva Aórtica Transcateter , Humanos , Substituição da Valva Aórtica Transcateter/métodos , Fragilidade/diagnóstico , Fragilidade/complicações , Estenose da Valva Aórtica/complicações , Força da Mão , Resultado do Tratamento , Fatores de Risco , Valva Aórtica/cirurgiaRESUMO
Low body weight and advanced age are reported to be among the best predictors of osteoporosis, and osteoporosis self-assessment tool (OST) values are calculated using a simple formula to identify postmenopausal women at increased risk of osteoporosis. In our recent study, we demonstrated an association between fractures and poor outcomes in postmenopausal women following transcatheter aortic valve replacement (TAVR). In this study, we aimed to investigate the osteoporotic risk in women with severe aortic stenosis and determined whether an OST could predict all-cause mortality following TAVR. The study population comprised 619 women who underwent TAVR. Compared to a quarter of patients with diagnosis of osteoporosis, 92.4% of participants were at high risk of osteoporosis based on OST criteria. When divided into tertiles based on OST values, patients in tertile 1 (lowest OST) displayed increased frailty, a higher incidence of multiple fractures, and greater Society of Thoracic Surgeons scores. Estimated all-cause mortality survival rates 3 years post-TAVR were 84.2 ± 3.0%, 89.5 ± 2.6%, and 96.9 ± 1.7% for OST tertiles 1, 2, and 3, respectively (p = 0.001). Multivariate analysis showed that the OST tertile 3 was associated with decreased risk of all-cause mortality compared with OST tertile 1 as the referent. Notably, a history of osteoporosis was not associated with all-cause mortality. Patients with high osteoporotic risk are highly prevalent among those with aortic stenosis according to the OST criteria. OST value is a useful marker for predicting all-cause mortality in patients undergoing TAVR.
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Estenose da Valva Aórtica , Osteoporose , Substituição da Valva Aórtica Transcateter , Humanos , Feminino , Substituição da Valva Aórtica Transcateter/efeitos adversos , Resultado do Tratamento , Fatores de Risco , Estenose da Valva Aórtica/complicações , Osteoporose/complicações , Osteoporose/cirurgia , Valva Aórtica/cirurgiaRESUMO
Behçet disease (BD) and relapsing polychondritis (RP) are chronic multisystem disorders characterized by recurrent flare-ups of tissue inflammation. Major clinical manifestations of BD are oral aphthae, genital aphthous ulcers, skin lesions, arthritis, and uveitis. Patients with BD may develop rare but serious neural, intestinal, and vascular complications, with high relapse rates. Meanwhile, RP is characterized by the inflammation of the cartilaginous tissues of the ears, nose, peripheral joints, and tracheobronchial tree. Additionally, it affects the proteoglycan-rich structures in the eyes, inner ear, heart, blood vessels, and kidneys. The mouth and genital ulcers with inflamed cartilage (MAGIC) syndrome is a common characteristic of BD and RP. The immunopathology of these two diseases may be closely related. It is established that the genetic predisposition to BD is related to the human leukocyte antigen (HLA)-B51 gene. Skin histopathology demonstrates the overactivation of innate immunity, such as neutrophilic dermatitis/panniculitis, in patients with BD. Monocytes and neutrophils frequently infiltrate cartilaginous tissues of patients with RP. Somatic mutations in UBA1, which encodes a ubiquitylation-related enzyme, cause vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS) with severe systemic inflammation and activation of myeloid cells. VEXAS prompts auricular and/or nasal chondritis, with neutrophilic infiltration around the cartilage in 52-60% of patients. Thus, innate immune cells may play an important role in the initiation of inflammatory processes underlying both diseases. This review summarizes the recent advances in our understanding of the innate cell-mediated immunopathology of BD and RP, with a focus on the common and distinct features of these mechanisms.
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Airway involvement in relapsing polychondritis (RP) can be debilitating and life threatening, often requiring interventional procedures. If standard therapies including systemic corticosteroid and immunosuppressive agents are ineffective, airway stenting is often required. Recently, biologics have been reported to be effective for RP, and the early administration of biologics may avoid airway stenting. To evaluate survival rates and treatment approaches, medical records of RP patients with airway involvement were reviewed. These cases were divided into the following groups: with and without malacia, stenting and non-stenting, and with and without biologics. Kaplan-Meier was used to calculate survival rates and log rank tests were used to analyze biologics groups. A total of 77 patients were enrolled. Airway stenting was performed in 13 patients, all of which developed airway malacia. The stenting group had significantly lower survival rates than the non-stenting group (p < 0.001). Stent-related complications were granulation tissue (85%) and mucostasis (69%). In the non-stenting group, a lower mortality rate was observed. A significantly higher survival rate was seen in patients administered biologics than without (p = 0.014). The early administration of biologics shows promise in preventing severe airway disorders that require airway stenting.
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Produtos Biológicos , Policondrite Recidivante , Humanos , Tecido de Granulação , Imunossupressores , Prontuários MédicosRESUMO
Grip myotonia can be a clue for the diagnosis of myotonic disorders. However, several clinical conditions cause delayed finger opening mimicking grip myotonia. We herein report a 44-year-old man with idiopathic inflammatory myopathy who presented with delayed finger opening resembling grip myotonia. The delayed finger opening differed from grip myotonia given the absence of the warm-up phenomenon and percussion myotonia, relative sparing of the thumb extension, and pronounced weakness of the extensor digitorum. Focusing on the extension of the thumb and other fingers may aid in the differentiation between delayed finger opening and true grip myotonia.
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Miosite , Miotonia , Distrofia Miotônica , Masculino , Humanos , Adulto , Miotonia/diagnóstico , Músculo Esquelético , Miosite/diagnóstico , Força da MãoRESUMO
Background: Treatment for ocular myasthenia gravis (OMG) has not yet been well established. Few reports have been published on the clinical practice and outcomes of OMG. Objectives: We investigated treatment of OMG and its outcomes in Japan.We investigated treatment of OMG and its outcomes in Japan. Design: We performed a retrospective cross-sectional survey of OMG patients from eight hospitals in Japan. Methods: Clinical information, including sex, age at onset, initial symptoms, autoantibodies, clinical course, treatment history, complications, and outcomes, was obtained. In addition, we recorded the total number of patients with MG and OMG separately. Results: In total, 135 patients with OMG (67 men, 68 women) were included. Treatment of OMG was not simple and involved various immunotherapeutic strategies. Eight patients went into remission spontaneously without immunotherapy. A total of 117 patients showed improvements after treatment, whereas 10 patients showed refractory responses to treatment. Overall outcomes were good; however, symptoms persisted in 60.7% of patients even after treatment. Among 90 patients who received immunotherapy, only two showed a refractory response. Meanwhile, for 45 patients who did not receive immunotherapy, 8 were refractory. Thus, the rate of refractory disease in the group with immunotherapy was significantly lower (p = 0.001, u-test) than in the group without immunotherapy. The proportion of generalized MG patients among all MG cases was low in medical centers where immunotherapy for OMG was frequently performed. Conclusion: Although the overall prognosis for patients with OMG was good, symptoms remained in more than half of the patients. Immunotherapy, including corticosteroids, may be beneficial for patients with OMG. Plain language summary: Is immunosuppressive therapy beneficial for myasthenia gravis patients with ocular symptoms only? Patients with ocular myasthenia gravis (OMG) have only eye symptoms for more than 2 years. Whether this condition is an initial stage of the disease before eventually progressing to generalized myasthenia gravis (gMG) is still uncertain. Different from gMG, OMG is not life-threatening. But eye symptoms often cause troublesome problems in life. Doctors have treated OMG patients similarly to patients with gMG. There is no standard clinical practice for OMG. In this study, we examined how patients with OMG were treated at eight different specialist centers in Japan. In 135 patients with OMG, 8 patients became symptom free without treatment, 117 patients showed improvements after treatment, whereas 10 patients did not get well. Overall outcomes were good, but symptoms remained in 60.7% of patients even after treatment. Among 90 patients who received one or more immunotherapies, only 2 did not get well. Meanwhile, for 45 patients who did not receive immunotherapy, 8 remained ill. We found that treatment of OMG was not simple and often needed multiple immunotherapies. Administering immunotherapy, including corticosteroids, may be beneficial for patients with OMG.
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Data from several recent studies have demonstrated the safety and efficacy of transcatheter aortic valve implantation (TAVI) for severe aortic stenosis (AS) even in nonagenarians. However, the impact of periprocedural bleeding following TAVI on their outcome remains unclear. In the aLliAnce for exPloring cLinical prospects of AortiC valvE disease (LAPLACE) registry, we compared outcomes between the bleeding and no-bleeding groups among 1953 patients < 90 years old (mean age, 83.0 ± 4.6 years old) and 316 nonagenarians (mean age, 91.7 ± 1.9 years old) who underwent TAVI with a median follow-up period of 628 days. The group with any periprocedural bleeding showed a higher 30-day mortality than the no-bleeding group in patients < 90 years old (3.3% vs. 0.5%, p = 0.001) and nonagenarians (7.9% vs. 0.7%, p = 0.001). In patients < 90 years old, severe periprocedural bleeding (n = 85) was associated with a higher mid-term all-cause mortality rate than no severe bleeding (n = 1,868), even after adjusting for covariates (hazard ratio [HR], 1.994; 95% confidence interval [CI] 1.287-2.937; p = 0.002). On the other hand, in nonagenarians, any periprocedural bleeding (n = 38) was associated with a higher mid-term cardiovascular (CV) mortality rate (21.1% vs. 4.3%, log-rank p = 0.014) than no bleeding (n = 278), even after adjusting for covariates (HR, 3.104; 95% CI 1.140-8.449; p = 0.027). In conclusion, any periprocedural bleeding after TAVI was associated with mid-term CV mortality in nonagenarians, whereas severe bleeding was associated with mid-term all-cause mortality in patients < 90 years old.
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Estenose da Valva Aórtica , Substituição da Valva Aórtica Transcateter , Idoso de 80 Anos ou mais , Humanos , Idoso , Substituição da Valva Aórtica Transcateter/efeitos adversos , Nonagenários , Estenose da Valva Aórtica/cirurgia , Estenose da Valva Aórtica/complicações , Fatores de Risco , Valva Aórtica/cirurgia , Hemorragia/etiologia , Sistema de Registros , Resultado do TratamentoRESUMO
Background: Obesity is a major risk factor for cardiovascular disease; however, a paradoxical effect of obesity has been reported in patients with heart failure or myocardial infarction. Although several studies have suggested the same obesity paradox in patients undergoing transcatheter aortic valve replacement (TAVR), they included a limited number of underweight patients. Objectives: This study aimed to clarify the effect of being underweight on TAVR outcomes. Methods: We retrospectively analyzed 1,693 consecutive patients undergoing TAVR between 2010 and 2020. The patients were categorized according to body mass index: underweight (<18.5 kg/m2; n = 242), normal weight (18.5 to 25 kg/m2; n = 1,055), and overweight (>25 kg/m2; n = 396). We compared midterm outcomes after TAVR among the 3 groups; all clinical events were in accordance with the Valve Academic Research Consortium-2 criteria. Results: Underweight patients were more likely to be women and have severe heart failure symptoms, peripheral artery disease, anemia, hypoalbuminemia, and pulmonary dysfunction. They also had lower ejection fractions, smaller aortic valve areas, and higher surgical risk scores. Device failure, life-threatening bleeding, major vascular complications, and 30-day mortality occurred more frequently in underweight patients. The midterm survival rate of the underweight group was inferior to those of the other 2 groups (P < 0.0001; average follow-up, 717 days). In the multivariate analysis, underweight was associated with noncardiovascular mortality (HR: 1.78; 95% CI: 1.16-2.75) but not cardiovascular mortality (HR: 1.28; 95% CI: 0.58-1.88) after TAVR. Conclusions: Underweight patients had a worse midterm prognosis, demonstrating the obesity paradox in this TAVR population. (Outcomes of transcatheter aortic valve implantation in Japanese patients with aortic stenosis: multi-center registry; UMIN000031133).
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PURPOSE: Cerebrospinal fluid drainage (CSFD) is recommended during open or endovascular thoracic aortic repair. However, the incidence of CSFD complications is still high. Recently, CSF pressure has been kept high to avoid complications, but the efficacy of CSFD at higher pressures has not been confirmed. We hypothesize that CSFD at higher pressures is effective for preventing motor deficits. METHODS: This prospective observational study included 14 hospitals that are members of the Japanese Society of Cardiovascular Anesthesiologists. Patients who underwent thoracic and thoracoabdominal aortic repair were divided into four groups: Group 1, CSF pressure around 10 mmHg; Group 2, CSF pressure around 15 mmHg; Group 3, CSFD initiated when motor evoked potential amplitudes decreased; and Group 4, no CSFD. We assessed the association between the CSFD group and motor deficits using mixed-effects logistic regression with a random intercept for the institution. RESULTS: Of 1072 patients in the study, 84 patients (open surgery, 51; thoracic endovascular aortic repair, 33) had motor deficits at discharge. Groups 1 and 2 were not associated with motor deficits (Group 1, odds ratio (OR): 1.53, 95% confidence interval (95% CI): 0.71-3.29, p = 0.276; Group 2, OR: 1.73, 95% CI: 0.62-4.82) when compared with Group 4. Group 3 was significantly more prone to motor deficits than Group 4 (OR: 2.56, 95% CI: 1.27-5.17, p = 0.009). CONCLUSION: CSFD is not associated with motor deficits in thoracic and thoracoabdominal aortic repair with CSF pressure around 10 or 15 mmHg.