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1.
J Clin Neuromuscul Dis ; 22(2): 77-83, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33214392

RESUMO

This update begins with muscle manifestations of coronavirus 2019. They may include myalgias and elevations in serum creatine kinase. It is unknown whether there is direct muscle invasion and how often the critically ill have muscle sequelae. Regarding autoimmune myopathies, a retrospective study of statin-induced necrotizing myopathy is covered. A relatively large proportion of patients had normal strength at presentation. Examples of dermatomyositis associated with immune checkpoint inhibitors are provided including one with cytokine storm. A report of juvenile dermatomyositis with severe abdominal complications is noteworthy. Two articles address unusual associations with inclusion body myositis, namely, spinocerebellar ataxias and granuloma myositis. In the category of muscular dystrophies, a relatively large single center study of the outcome of scapulothoracic arthrodesis for facioscapulohumeral muscular dystrophy is discussed and a article on anoctaminopathies with pauci- or asymptomatic hyperCKemia.


Assuntos
Infecções por Coronavirus/complicações , Doenças Musculares/virologia , Pneumonia Viral/complicações , Betacoronavirus , Humanos , Doenças Musculares/epidemiologia , Pandemias
2.
Maturitas ; 140: 41-48, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32972634

RESUMO

OBJECTIVE: To determine the prevalence and severity of menopausal symptoms and their related risk factors among middle-aged Korean women according to their reproductive stages. METHODS: This cross-sectional study included 3039 Korean women, aged 45-65 years, who attended their routine health checkup. Their scores from the Menopause Rating Scale (MRS) were compared and participants were categorized into four groups according to stage of menopause: premenopause, early menopause (≤2 years from their last menstruation), mid-menopause (2-8 years), and late menopause (>8 years). RESULTS: The mean age of the participants was 52.81 ± 5.39 years, and 98.5 % of them reported one or more symptoms included in the MRS. The most common symptom was physical/mental exhaustion, experienced by 86.7 % of participants. The prevalence of moderate to severe symptoms, including vasomotor symptoms, heart discomfort, sleep problems, sexual problems, vaginal dryness, and joint/muscular discomfort, increased in the early menopausal period. This increased in the late menopausal period compared with its prevalence at premenopause. The prevalence of moderate to severe psychological symptoms, heart discomfort, and sleep problems followed a U-shaped trend after menopause: high at early menopause, low at mid-menopause, and high again at late menopause. A low level of physical exercise was an independent risk factor for a high total MRS score; however, the menopausal stages, age, and weight were also variously associated with menopausal symptoms. CONCLUSIONS: Several menopausal symptoms remain severe, or are aggravated, until the late menopausal period among Korean women. More attention is warranted to manage these symptoms in postmenopausal women.


Assuntos
Menopausa , Idoso , Estudos Transversais , Fadiga/epidemiologia , Feminino , Fogachos/epidemiologia , Humanos , Artropatias/epidemiologia , Menopausa/psicologia , Pessoa de Meia-Idade , Doenças Musculares/epidemiologia , Prevalência , República da Coreia/epidemiologia , Fatores de Risco , Disfunções Sexuais Fisiológicas/epidemiologia , Transtornos do Sono-Vigília/epidemiologia , Doenças Vaginais/epidemiologia
3.
Neurologia ; 35(9): 621-627, 2020.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-32912745

RESUMO

INTRODUCTION: We analysed the neurological complications of patients with severe SARS-CoV-2 infection who required intensive care unit (ICU) admission. PATIENTS AND METHODS: We conducted a retrospective, observational, descriptive study of consecutive patients admitted to the ICU due to severe respiratory symptoms secondary to SARS-CoV-2 infection between 1 April and 1 June 2020. RESULTS: We included 30 patients with neurological symptoms; 21 were men (72.40%), and mean age (standard deviation [SD]) was 57.41 years (11.61). The mean duration of ICU stay was 18.83 days (14.33). The neurological conditions recorded were acute confusional syndrome in 28 patients (93.33%), neuromuscular disease in 15 (50%), headache in 5 (16.66%), cerebrovascular disease in 4 (13.33%), and encephalopathies/encephalitis in 4 (13.33%). CSF analysis results were normal in 6 patients (20%). Brain MRI or head CT showed alterations in 20 patients (66.6%). EEG was performed in all patients (100%), with 8 (26.66%) showing abnormal findings. In 5 of the 15 patients with clinical myopathy, diagnosis was confirmed with electroneuromyography. We found a correlation between older age and duration of ICU stay (P=.002; 95%CI: 4.032-6.022; OR: 3,594). CONCLUSIONS: Severe COVID-19 mainly affects men, as observed in other series. Half of our patients presented acute myopathy, and almost all patients left the ICU with acute confusional syndrome, which fully resolved; no correlation was found with EEG or neuroimaging findings. Older age is associated with longer ICU stay.


Assuntos
Betacoronavirus , Infecções por Coronavirus/complicações , Estado Terminal , Doenças Musculares/etiologia , Doenças do Sistema Nervoso/etiologia , Pandemias , Pneumonia Viral/complicações , Doença Aguda , Adulto , Fatores Etários , Idoso , Hemorragia Cerebral/diagnóstico por imagem , Hemorragia Cerebral/epidemiologia , Hemorragia Cerebral/etiologia , Confusão/epidemiologia , Confusão/etiologia , Infecções por Coronavirus/epidemiologia , Cuidados Críticos , Feminino , Humanos , Tempo de Internação/estatística & dados numéricos , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Doenças Musculares/epidemiologia , Doenças do Sistema Nervoso/epidemiologia , Neuroimagem , Pneumonia Viral/epidemiologia , Estudos Retrospectivos , Espanha/epidemiologia
4.
Toxicon ; 187: 10-18, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32846146

RESUMO

Snakebite accidents are considered serious public health problems. They are often neglected, and individuals who have received insufficient treatment are subjected to various disabling alterations. Snake venoms are secretions composed of biologically active molecules capable of triggering local and systemic effects in envenomation victims. Bothropic snakes are responsible for most of the ophidian accidents in Brazil; their venoms are mainly related to local manifestations, due to a composition that is especially rich in proteases and phospholipases A2. The most common local damages are inflammation, with consequent cellular activation and release of inflammatory mediators, hemorrhage, edema, pain and (myo)necrosis, which may lead to amputation of the affected areas. Antivenom therapy is the main treatment for snakebites. However, the efficiency is mainly due to the neutralization of the toxins responsible for the systemic alterations. Thus, the local damages can evolve to markedly compromise the tissue. The complexity of these local effects associated with the toxicity of the snake venom components of the genus Bothrops, arouse interest in the study of the biochemical and pathophysiological mechanisms involved with the actions caused by toxins of the venom. Therefore, this review aims to analyze the edematogenic, hyperalgesic and myotoxic effects caused by Brazilian bothropic venoms in order to contribute to the study and elucidation of the mechanisms of action of its components and, consequently, enable discoveries of more effective combined therapies in the treatment of local damages resulting from envenoming.


Assuntos
Mordeduras de Serpentes/epidemiologia , Animais , Bothrops , Brasil/epidemiologia , Venenos de Crotalídeos/toxicidade , Edema/epidemiologia , Humanos , Hiperalgesia/epidemiologia , Doenças Musculares/epidemiologia , Necrose/epidemiologia
5.
Saudi Med J ; 41(7): 703-708, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32601637

RESUMO

OBJECTIVES: To determine the incidence of newborn screening (NBS) disorders and to study the key performance indicators of the program. METHODS: This retrospective single-center study enrolled all infants who underwent NBS from January 2012 to December 2017 at Prince Sultan Military Medical City, Riyadh, Saudi Arabia. We screened 17 NBS disorders. Blood samples were collected 24 hours after birth. If the initial result was positive, a second sample was collected. True positive cases were immediately referred for medical management. Data were extracted from laboratory computerized and non-computerized records using case report forms. RESULTS: During the study period, 56632 infants underwent NBS with a coverage rate of 100%. Thirty-eight cases were confirmed. The incidence of congenital hypothyroidism was 1:3775. The positive predictive value for the detection of congenital hypothyroidism was 11.8%. Propionic aciduria was the most common metabolic disorder, with an incidence of 1:14158. Very long-chain acyl CoA dehydrogenase deficiency and glutaric aciduria type 1 had an incidence of 1:18877 each. Phenylketonuria, biotinidase deficiency, maple syrup urine disease, and citrullinemia had an incidence of 1:28316 each. However, galactosemia and 3-methyl crotonyl carboxylase deficiency had the lowest incidence of 1:56632. CONCLUSION: The NBS coverage rate at our facility was 100%. Congenital hypothyroidism was the most frequently detected disorder with an incidence that matches worldwide figures. The incidence of other inherited disorders was consistent with regional figures.


Assuntos
Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/epidemiologia , Triagem Neonatal , Acil-CoA Desidrogenase de Cadeia Longa/deficiência , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Erros Inatos do Metabolismo dos Aminoácidos/epidemiologia , Biomarcadores/sangue , Encefalopatias Metabólicas/diagnóstico , Encefalopatias Metabólicas/epidemiologia , Síndrome Congênita de Insuficiência da Medula Óssea/diagnóstico , Síndrome Congênita de Insuficiência da Medula Óssea/epidemiologia , Glutaril-CoA Desidrogenase/deficiência , Humanos , Hipotireoidismo/diagnóstico , Hipotireoidismo/epidemiologia , Incidência , Recém-Nascido , Erros Inatos do Metabolismo Lipídico/diagnóstico , Erros Inatos do Metabolismo Lipídico/epidemiologia , Doenças Mitocondriais/diagnóstico , Doenças Mitocondriais/epidemiologia , Doenças Musculares/diagnóstico , Doenças Musculares/epidemiologia , Valor Preditivo dos Testes , Acidemia Propiônica/diagnóstico , Acidemia Propiônica/epidemiologia , Estudos Retrospectivos , Arábia Saudita/epidemiologia , Fatores de Tempo
6.
Am J Cardiol ; 128: 168-173, 2020 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-32650915

RESUMO

The prognosis of patients with left ventricular hypertrabeculation/noncompaction (LVHT) is assessed controversially. LVHT is associated with other cardiac abnormalities and with neuromuscular disorders (NMD). Aim of the study was to assess cardiac and neurological findings as predictors of mortality rate in adult LVHT-patients. Included were patients with LVHT diagnosed between 1995 and 2019 in 1 echocardiographic laboratory. Patients underwent a baseline cardiologic examination and were invited for a neurological investigation. In January 2020, their survival status was assessed. End points were death or heart transplantation. LVHT was diagnosed by echocardiography in 310 patients (93 female, aged 53 ± 18 years) with a prevalence of 0.4%/year. A neurologic investigation was performed in 205 patients (67%). A specific NMD was found in 33 (16%), NMD of unknown etiology in 123 (60%) and the neurological investigation was normal in 49 (24%) patients. During follow-up of 84 ± 71 months, 59 patients received electronic devices, 105 patients died, and 6 underwent heart transplantation. The mortality was 4.7%/year, the rate of heart transplantation/death 5%/year. By multivariate analysis, the following parameters were identified to elevate the risk of mortality/heart transplantation: increased age (p = 0.005), inpatient (p = 0.001), presence of a specific NMD (p = 0.0312) or NMD of unknown etiology (p = 0.0365), atrial fibrillation (p = 0.0000), ventricular premature complexes (p = 0.0053), exertional dyspnea (p = 0.0023), left bundle branch block (p = 0.0201), and LVHT of the posterior wall (p = 0.0158). In conclusion, LVHT patients should be systematically investigated neurologically since neurological co-morbidity has a prognostic impact.


Assuntos
Fibrilação Atrial/epidemiologia , Bloqueio de Ramo/epidemiologia , Transplante de Coração/estatística & dados numéricos , Miocárdio Ventricular não Compactado Isolado/epidemiologia , Mortalidade , Doenças Neuromusculares/epidemiologia , Adulto , Idoso , Comorbidade , Ecocardiografia , Ecocardiografia Doppler , Feminino , Humanos , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Doenças Musculares/epidemiologia , Distrofia Muscular de Duchenne/epidemiologia , Distrofia Miotônica/epidemiologia , Atrofia Óptica Hereditária de Leber/epidemiologia , Síndrome Pós-Poliomielite/epidemiologia , Prognóstico , Modelos de Riscos Proporcionais
7.
Phys Ther ; 100(9): 1681-1689, 2020 08 31.
Artigo em Inglês | MEDLINE | ID: mdl-32367136

RESUMO

OBJECTIVE: There is limited knowledge on how exercise impacts the pelvic floor muscles (PFM) and prevalence of stress urinary incontinence (SUI) and pelvic organ prolapse (POP) postpartum. The purpose of this study was to investigate whether early onset of general exercise postpartum negatively affects the PFM and/or increases the risk of SUI and POP 12 months postpartum. METHODS: This study used a prospective cohort design. At 6 weeks postpartum, 57 women classified as exercisers (exercising ≥3 times at ≥30 min/wk) were compared with 120 nonexercisers (mean age = 29 years, SD = 4.3). Manometry was used to measure vaginal resting pressure, PFM strength, and PFM endurance, and symptoms of SUI and POP were assessed using questionnaires. Data were presented as standardized beta coefficients (B) and odds ratios (OR). RESULTS: No differences were found between exercisers (n = 57) and non-exercisers (n = 120) at 6 weeks postpartum on vaginal resting pressure (B = -0.04 [95% CI = -3.4 to 2.1]), PFM strength (B = 0.03 [95% CI = -4.7 to 7.4]), PFM endurance (B = -0.02 [95% CI = -59 to 46]), or symptoms of SUI (OR = 0.51 [95% CI = 0.25 to 1.1]) or POP (OR = 0.62 [95% CI = 0.26 to 1.5]) measured at 12 months postpartum. Adjusting for covariates, women with body mass index between 25 and 29.9 and >30 were more likely to report SUI 12 months postpartum (OR = 2.2 [95% CI = 1.0 to 4.7] and OR = 3.3 [95% CI = 1.2 to 9.4], respectively). Women with physically strenuous occupations were more likely to report POP 12 months postpartum (OR = 3.0 [95% CI = 1.2 to 7.3]). CONCLUSIONS: This study suggests that regular exercise 6 weeks postpartum has no negative effect on PFM function or on SUI or POP. Being overweight, however, was associated with more SUI, and women with physically strenuous occupations reported more POP. IMPACT: Results from this study suggest that first-time mothers should be encouraged to start general exercise within the first 6 weeks after giving birth. Women at risk for PFD should be advised accordingly and potentially modifiable risk factors should be addressed prior to delivery. LAY SUMMARY: First-time mothers are encouraged to talk with a physical therapist about starting regular general exercise in the early postpartum weeks. Health care providers should advise patients on possible preventive measures for women at risk for PFD.


Assuntos
Exercício Físico/fisiologia , Doenças Musculares/epidemiologia , Diafragma da Pelve/fisiologia , Período Pós-Parto/fisiologia , Adulto , Feminino , Humanos , Manometria , Força Muscular/fisiologia , Ocupações , Sobrepeso/complicações , Paridade , Prolapso de Órgão Pélvico/epidemiologia , Prolapso de Órgão Pélvico/etiologia , Gravidez , Prevalência , Estudos Prospectivos , Incontinência Urinária por Estresse/epidemiologia , Incontinência Urinária por Estresse/etiologia , Vagina/fisiologia
8.
Bone Joint J ; 102-B(3): 352-359, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32114822

RESUMO

AIMS: Few risk factors for rotator cuff disease (RCD) and corresponding treatment have been firmly established. The aim of this study was to evaluate the relationship between numerous risk factors and the incidence of surgery for RCD in a large cohort. METHODS: A population-based cohort of people aged between 40 and 69 years in the UK (the UK Biobank) was studied. People who underwent surgery for RCD were identified through a link with NHS inpatient records covering a mean of eight years after enrolment. Multivariate Cox proportional hazards regression was used to calculate hazard ratios (HRs) as estimates of associations with surgery for RCD accounting for confounders. The risk factors which were considered included age, sex, race, education, Townsend deprivation index, body mass index (BMI), occupational demands, and exposure to smoking. RESULTS: Of the 421,894 people who were included, 47% were male. The mean age at the time of enrolment was 56 years (40 to 69). A total of 2,156 people were identified who underwent surgery for RCD. Each decade increase in age was associated with a 55% increase in the incidence of RCD surgery (95% confidence interval (CI) 46% to 64%). Male sex, non-white race, lower deprivation score, and higher BMI were significantly associated with a higher risk of surgery for RCD (all p < 0.050). Greater occupational physical demands were significantly associated with higher rates of RCD surgery (HR = 2.1, 1.8, and 1.4 for 'always', 'usually', and 'sometimes' doing heavy manual labour vs 'never', all p < 0.001). Former smokers had significantly higher rates of RCD surgery than those who had never smoked (HR 1.23 (95% CI 1.12 to 1.35), p < 0.001), while current smokers had similar rates to those who had never smoked (HR 0.94 (95% CI 0.80 to 1.11)). Among those who had never smoked, the risk of surgery was higher among those with more than one household member who smoked (HR 1.78 (95% CI 1.08 to 2.92)). The risk of RCD surgery was not significantly related to other measurements of secondhand smoking. CONCLUSION: Many factors were independently associated with surgery for RCD, including older age, male sex, higher BMI, lower deprivation score, and higher occupational physical demands. Several of the risk factors which were identified are modifiable, suggesting that the healthcare burden of RCD might be reduced through the pursuit of public health goals, such as reducing obesity and modifying occupational demands. Cite this article: Bone Joint J 2020;102-B(3):352-359.


Assuntos
Doenças Musculares/cirurgia , Exposição Ocupacional/efeitos adversos , Procedimentos Ortopédicos/estatística & dados numéricos , Vigilância da População , Manguito Rotador/cirurgia , Fumar/efeitos adversos , Adulto , Idoso , Índice de Massa Corporal , Feminino , Seguimentos , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Doenças Musculares/epidemiologia , Doenças Musculares/etiologia , Prevalência , Estudos Prospectivos , Fatores de Risco , Reino Unido/epidemiologia
9.
BMC Neurol ; 20(1): 29, 2020 Jan 17.
Artigo em Inglês | MEDLINE | ID: mdl-31952503

RESUMO

BACKGROUND: Necrotizing myopathy (NM) is defined by the dominant pathological feature of necrosis of muscle fibers without substantial lymphocytic inflammatory infiltration. Anti-signal recognition particle (SRP)-antibody-positive myopathy is related to NM. Anti-SRP-antibody-positive myopathy can comorbid with other disorders in some patients, however, comorbidity with malignant tumor and myopericarditis has still not been reported. CASE PRESENTATION: An 87-year-old woman with dyspnea on exertion and leg edema was referred to our hospital because of suspected heart failure and elevated serum creatine kinase level. Upon hospitalization, she developed muscle weakness predominantly in the proximal muscles. Muscle biopsy and immunological blood test led to the diagnosis of anti-SRP-antibody-positive myopathy. A colon carcinoma was also found and surgically removed. The muscle weakness remained despite the tumor resection and treatment with methylprednisolone. Cardiac screening revealed arrhythmia and diastolic dysfunction with pericardial effusion, which recovered with intravenous immunoglobulin (IVIg) treatment. CONCLUSIONS: We reported the first case of anti-SRP-positive myopathy comorbid with colon carcinoma and myopericarditis. This case is rare in the point that heart failure symptoms were the first clinical presentation. The underlying mechanism is still not clear, however, physicians should be carefully aware of the neoplasm and cardiac involvement in anti-SRP-antibody positive-myopathy patients and should consider farther evaluation and management.


Assuntos
Neoplasias do Colo/epidemiologia , Doenças Musculares/epidemiologia , Doenças Musculares/imunologia , Pericardite/epidemiologia , Idoso de 80 Anos ou mais , Autoanticorpos/sangue , Comorbidade , Feminino , Insuficiência Cardíaca/tratamento farmacológico , Insuficiência Cardíaca/etiologia , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Doenças Musculares/complicações , Partícula de Reconhecimento de Sinal/imunologia
10.
Physiol Rev ; 100(2): 633-672, 2020 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-31751166

RESUMO

Drugs are prescribed to manage or prevent symptoms and diseases, but may sometimes cause unexpected toxicity to muscles. The symptomatology and clinical manifestations of the myotoxic reaction can vary significantly between drugs and between patients on the same drug. This poses a challenge on how to recognize and prevent the occurrence of drug-induced muscle toxicity. The key to appropriate management of myotoxicity is prompt recognition that symptoms of patients may be drug related and to be aware that inter-individual differences in susceptibility to drug-induced toxicity exist. The most prevalent and well-documented drug class with unintended myotoxicity are the statins, but even today new classes of drugs with unintended myotoxicity are being discovered. This review will start off by explaining the principles of drug-induced myotoxicity and the different terminologies used to distinguish between grades of toxicity. The main part of the review will focus on the most important pathogenic mechanisms by which drugs can cause muscle toxicity, which will be exemplified by drugs with high risk of muscle toxicity. This will be done by providing information on key clinical and laboratory aspects, muscle electromyography patterns and biopsy results, and pathological mechanism and management for a specific drug from each pathogenic classification. In addition, rather new classes of drugs with unintended myotoxicity will be highlighted. Furthermore, we will explain why it is so difficult to diagnose drug-induced myotoxicity, and which tests can be used as a diagnostic aid. Lastly, a brief description will be given of how to manage and treat drug-induced myotoxicity.


Assuntos
Inibidores de Hidroximetilglutaril-CoA Redutases/efeitos adversos , Músculo Esquelético/efeitos dos fármacos , Doenças Musculares/induzido quimicamente , Animais , Humanos , Músculo Esquelético/patologia , Músculo Esquelético/fisiopatologia , Doenças Musculares/epidemiologia , Doenças Musculares/fisiopatologia , Doenças Musculares/terapia , Miotoxicidade , Valor Preditivo dos Testes , Prognóstico , Fatores de Risco
11.
J Minim Invasive Gynecol ; 27(2): 373-389, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31618674

RESUMO

OBJECTIVE: To conduct a systematic review of the literature on patients with extrapelvic deep endometriosis. DATA SOURCES: A thorough search of the PubMed/Medline, Embase, and Cochrane databases was performed. METHODS OF STUDY SELECTION: Studies in the last 20 years that reported on primary extrapelvic endometriosis were included (PROSPERO registration number CRD42019125370). TABULATION, INTEGRATION, AND RESULTS: The initial search identified 5465 articles, and 179 articles, mostly case reports and series, were included. A total of 230 parietal (PE), 43 visceral (VE), 628 thoracic (TE), 6 central nerve system, 12 extrapelvic muscle or nerve, and 1 nasal endometriosis articles were identified. Abdominal endometriosis was divided into PE and VE. PE lesions involved primary lesions of the abdominal wall, groin, and perineum. When present, symptoms included a palpable mass (99%), cyclic pain (71%) and cyclic bleeding (48%). Preoperative clinical suspicion was low, the use of tissue diagnosis was indeterminate (25%), and a few (8%) malignancies were suspected. Surgical treatment for PE included wide local excision (97%), with 5% recurrence and no complications. Patients with VE involving abdominal organs - kidneys, liver, pancreas, and biliary tract - were treated surgically (86%) with both conservative (51%) and radical resection (49%), with 15% recurrence and 2 major complications reported. In patients with TE involving the diaphragm, pleura, and lung, isolated and concomitant lesions occurred and favored the right side (80%). Patients with TE presented with the triad of catamenial pain, pneumothorax, and hemoptysis. Thoracoscopy with resection followed by pleurodesis was the most common procedure performed, with 29% recurrence. Adjuvant medical therapy with gonadotropin-releasing hormone was administered in 15% of cases. Preoperative magnetic resonance imaging was performed in all cases of nonthoracic and nonabdominal endometriosis. Common symptoms were paresthesia and cyclic pain with radiation. Surgical resection was reported in 84%, with improvement of symptoms. CONCLUSION: Extrapelvic endometriosis, traditionally thought to be rare, has been reported in a considerable number of cases. Heightened awareness and clinical suspicion of the disease and a multidisciplinary approach are recommended to achieve a prompt diagnosis and optimize patient outcomes. Currently, there are no comparative studies to provide recommendations regarding optimal diagnostic methods, treatment options, and outcomes for endometriosis involving extrapelvic sites.


Assuntos
Endometriose/epidemiologia , Gastroenteropatias/epidemiologia , Doenças Musculares/epidemiologia , Doenças do Sistema Nervoso/epidemiologia , Doenças Torácicas/epidemiologia , Adulto , Diafragma/patologia , Diafragma/cirurgia , Endometriose/diagnóstico , Endometriose/patologia , Endometriose/terapia , Feminino , Gastroenteropatias/diagnóstico , Gastroenteropatias/patologia , Gastroenteropatias/terapia , Humanos , Imagem por Ressonância Magnética , Doenças Musculares/diagnóstico , Doenças Musculares/patologia , Doenças Musculares/terapia , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/patologia , Doenças do Sistema Nervoso/terapia , Pneumotórax/diagnóstico , Pneumotórax/epidemiologia , Pneumotórax/etiologia , Pneumotórax/terapia , Recidiva , Doenças Torácicas/diagnóstico , Doenças Torácicas/patologia , Doenças Torácicas/terapia , Toracoscopia
12.
J Clin Endocrinol Metab ; 105(1)2020 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-31613324

RESUMO

CONTEXT: An important clinical feature of Cushing's syndrome (CS) is proximal muscle myopathy caused by glucocorticoid induced protein metabolism. However, interindividual differences cannot be explained solely by the pure extent of hypercortisolemia. OBJECTIVE: To evaluate the effects of glucocorticoid receptor (GR) polymorphisms (BclI, N363S, ER22/23EK and A3669G), which influence peripheral glucocorticoid sensitivity on muscular function in endogenous CS. METHODS: 205 patients with proven endogenous CS (128 central, 77 adrenal) from 3 centers of the German Cushing's Registry and 125 subjects, in whom CS was ruled out, were included. All subjects were assessed for grip strength (via hand grip dynamometer) and performed a chair-rising test (CRT). DNA samples were obtained from peripheral blood leukocytes for GR genotyping. RESULTS: In patients with active CS, normalized handgrip strength of the dominant and nondominant hand was higher in A3669G minor allele than in wildtype carriers (P = .006 and P = .021, respectively). CS patients in remission and ruled-out CS showed no differences in handgrip strength regarding A3669G minor allele and wildtype carriers. Male CS patients harboring the ER22/23EK wildtype presented lower hand grip strength than minor allele carriers (P = .049 dominant hand; P = .027 nondominant hand). The other polymorphisms did not influence handgrip strength. CRT showed no differences regarding GR polymorphisms carrier status. CONCLUSION: Handgrip strength seems to be more susceptible to hypercortisolism in A3669G wildtype than in A3669G minor allele carriers. This might partially explain the inter-individual differences of glucocorticoid-induced myopathy in patients with endogenous CS. ER22/23EK polymorphism seems to exert sex-specific differences.


Assuntos
Síndrome de Cushing/genética , Força Muscular/genética , Doenças Musculares/genética , Polimorfismo Genético , Receptores de Glucocorticoides/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Síndrome de Cushing/complicações , Síndrome de Cushing/epidemiologia , Síndrome de Cushing/fisiopatologia , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Alemanha/epidemiologia , Força da Mão/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Musculares/complicações , Doenças Musculares/epidemiologia , Sistema de Registros , Caracteres Sexuais , Adulto Jovem
13.
J Minim Invasive Gynecol ; 27(1): 80-87, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-30965115

RESUMO

STUDY OBJECTIVE: To identify the clinical presentation, diagnostic evaluation, operative or medical management, and postoperative recurrence of umbilical endometriosis. DESIGN: A retrospective national survey. SETTING: Obstetrics and Gynecology and Plastic Surgery Departments at a teaching hospital in Japan. PATIENTS: Patients with umbilical endometriosis or malignant transformation. INTERVENTIONS: A national survey was conducted to identify and evaluate cases of umbilical endometriosis or malignant transformation documented between 2006 and 2016. MEASUREMENTS AND MAIN RESULTS: The following were evaluated for each patient: age at diagnosis, body mass index, medical history, presence of extragenital endometriosis, surgical history, symptoms, imaging modalities, surgical therapy, hormonal therapy, follow-up period, postoperative recurrence, and time to recurrence. Ninety-six patients were identified with pathologically diagnosed benign umbilical endometriosis. The patients frequently had swelling (86.5%), pain (81.3%), or bleeding (44.8%) in the umbilicus. Sensitivity was 87.1% for physical examination, 76.5% for transabdominal ultrasonography, 75.6% for computed tomography, and 81.8% for magnetic resonance imaging. The cumulative recurrence rate was 1.34% at 6 months, 6.35% at 12 months, and 6.35% at 60 months after surgery. Importantly, there was no recurrence after wide resection including of the peritoneum (0 of 37 cases). The efficacy of dienogest (an oral progestin), gonadotropin-releasing hormone agonists, and oral contraceptives was 91.7%, 81.8%, and 57.1%, respectively. Finally, 2 cases of malignant transformation were identified. CONCLUSION: There was a low recurrence rate following surgery, and hormonal treatment is an option, although the current findings suggest surgical therapy as the first choice of treatment for umbilical endometriosis.


Assuntos
Endometriose/epidemiologia , Endometriose/cirurgia , Doenças Musculares/epidemiologia , Doenças Musculares/cirurgia , Umbigo/cirurgia , Adulto , Feminino , Humanos , Japão/epidemiologia , Pessoa de Meia-Idade , Período Pós-Operatório , Recidiva , Estudos Retrospectivos , Inquéritos e Questionários , Resultado do Tratamento , Umbigo/patologia
14.
Acta Diabetol ; 57(1): 71-80, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31203438

RESUMO

AIMS: To investigate the occurrence of myopathy with oral glucose-lowering drugs (OGLDs) and statins, with a focus on dipeptidyl peptidase-4 inhibitors (DPP4-is). METHODS: The FDA adverse event reporting system (FAERS) was queried (2004-2016) to compare the proportion of adverse events with OGLDs, alone and in combination with statins, using the reporting odds ratio (ROR) with relevant 95% confidence interval (95%Cl), adjusted for sex, age and concomitant presence of other OGLDs/lipid-lowering drugs. Drug-drug interaction is claimed whenever the frequency of an event is enhanced by combination treatment. Consistency/robustness of findings was tested by applying additive/multiplicative models and accounting for competition bias (i.e., adverse events previously known to be associated with OGLDs were removed). RESULTS: Over a 13-year period, we retrieved 142,888 cases of myopathy. The use of DPP4-is alone was not associated with higher reporting of myopathy (no. of cases = 4898; adjusted ROR = 1.00; 95%CI = 0.96-1.04), with the notable exclusion of vildagliptin (262; 1.64; 1.42-1.88). No increased occurrence emerged when used in combination with statins, with consistent findings from additive/multiplicative models for all DPP4-is. Likewise, no increased reporting was found for other OGLDs (28,964; 0.64; 0.62-0.67); data on the interaction with statins were consistent/robust across analyses only for sulfonylureas (the interaction is likely and biologically plausible) and sodium glucose cotransporter-2 inhibitors. CONCLUSIONS: Real-world FAERS data do not raise concern for muscular toxicity with DPP4-is in combination with statins, making a drug interaction very unlikely.


Assuntos
Inibidores da Dipeptidil Peptidase IV/efeitos adversos , Interações Medicamentosas , Inibidores de Hidroximetilglutaril-CoA Redutases/efeitos adversos , Hipolipemiantes/efeitos adversos , Doenças Musculares/epidemiologia , Adolescente , Adulto , Sistemas de Notificação de Reações Adversas a Medicamentos , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Musculares/etiologia , Razão de Chances , Estados Unidos , United States Food and Drug Administration/estatística & dados numéricos , Adulto Jovem
15.
Infect Disord Drug Targets ; 20(1): 88-97, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-30387403

RESUMO

BACKGROUND: Side effects and toxicity have posed a threat to the positive contribution of Antiretroviral Therapy (ART) in the management of human immunodeficiency virus (HIV) infection and Acquired Immune Deficiency Syndrome (AIDS). Symptoms of mitochondrial toxicity including myopathy, pancreatitis, hyperlipidaemia and lactic acidosis are found among HIVinfected patients on ART. To date, there is not a reliable biomarker for monitoring ART-related mitochondrial toxicity. Plasma level of Cytochrome c (Cyt-c) has been proposed as a potential biomarker for ART-related toxicity due to its strong association with apoptosis. OBJECTIVE: The present study assessed toxicity and level of plasma Cyt-c among HIV-infected patients receiving ART in Ghana. METHODS: A total of eighty (80) HIV patients were recruited into the study. Demographic data were obtained from personal interview and medical records. Plasma samples were screened for toxicity from sixty (60) participants due to limited resources, and plasma Cyt-c levels were determined using ELISA. Data were analyzed using Stata version 13. RESULTS: Out of the 60 participants, 11 (18.3%) were found with symptoms of myopathy, 12 (20%) with pancreatitis, 21 (35%) with hyperlipidaemia and 36 (60%) with at least one of the symptoms. The concentration of plasma Cyt-c was higher (0.122 ng/ml) in patients with toxicity than in those without toxicity (0.05 ng/ml), though the difference was not statistically significant (p = 0.148). There was a weak correlation between plasma Cyt-c level and duration of ART (Spearman rho = 0.02, p = 0.89). CONCLUSION: This study, therefore, demonstrated a high prevalence of ART-related toxicity and high levels of Cyt-c in HIV-infected patients in support of the argument that plasma Cyt-c levels are potential biomarkers for determining ART-related toxicity in HIV patients.


Assuntos
Terapia Antirretroviral de Alta Atividade/efeitos adversos , Citocromos c/sangue , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/epidemiologia , Infecções por HIV/tratamento farmacológico , Adulto , Estudos Transversais , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/sangue , Feminino , Gana/epidemiologia , Infecções por HIV/sangue , Humanos , Hiperlipidemias/sangue , Hiperlipidemias/induzido quimicamente , Hiperlipidemias/epidemiologia , Masculino , Pessoa de Meia-Idade , Doenças Musculares/sangue , Doenças Musculares/induzido quimicamente , Doenças Musculares/epidemiologia , Pancreatite/sangue , Pancreatite/induzido quimicamente , Pancreatite/epidemiologia , Adulto Jovem
16.
Orphanet J Rare Dis ; 14(1): 276, 2019 12 02.
Artigo em Inglês | MEDLINE | ID: mdl-31791368

RESUMO

BACKGROUND: Inherited muscle diseases are a group of rare heterogeneous muscle conditions with great impact on quality of life, for which variable prevalence has previously been reported, probably due to case selection bias. The aim of this study is to estimate the overall and selective prevalence rates of inherited muscle diseases in a northern Spanish region and to describe their demographic and genetic features. Retrospective identification of patients with inherited muscle diseases between 2000 and 2015 from multiple data sources. Demographic and molecular data were registered. RESULTS: On January 1, 2016, the overall prevalence of inherited muscle diseases was 59.00/ 100,000 inhabitants (CI 95%; 53.35-65.26). Prevalence was significantly greater in men (67.33/100,000) in comparison to women (50.80/100,000) (p = 0.006). The highest value was seen in the age range between 45 and 54 (91.32/100,000) years. Myotonic dystrophy type 1 was the most common condition (35.90/100,000), followed by facioscapulohumeral muscular dystrophy (5.15/100,000) and limb-girdle muscular dystrophy type 2A (2.5/100,000). CONCLUSIONS: Prevalence of inherited muscle diseases in Navarre is high in comparison with the data reported for other geographical regions. Standard procedures and analyses of multiple data sources are needed for epidemiological studies of this heterogeneous group of diseases.


Assuntos
Doenças Musculares/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Neuromusculares/epidemiologia , Prevalência , Qualidade de Vida , Estudos Retrospectivos , Adulto Jovem
17.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(12): 1167-1170, 2019 Dec 10.
Artigo em Chinês | MEDLINE | ID: mdl-31813139

RESUMO

OBJECTIVE: To study the prevalence, clinical and genetic characteristics of primary carnitine deficiency (PCD). METHODS: From January 2013 to December 2017, 720 667 newborns and their mothers were tested for PCD by tandem mass spectrometry. Potential mutations of carnitine transporter gene SLC22A5 among suspected PCD patients were analyzed. Dietary guidance and L-carnitine supplementation were provided to the parents. Growth and intelligence development were surveyed during follow-up. RESULTS: In total 21 neonates and 6 mothers were diagnosed with PCD, which yielded an incidence of 1 in 34 317. Eighteen SLC22A5 mutations were detected, which included 4 novel mutations, namely c.1484T>C, c.394-1G>T, c.431T>C and c.265-266insGGCTCGCCACC. Eighteen patients were found to carry compound heterozygous mutations and 3 have carried homozygous SLC22A5 mutations. Three mothers carried compound heterozygous mutations and 2 carried homozygous mutations. Common mutations included c.1400C>G (42.3%), c.760C>T (11.5%) and c.51C>G (7.7%). During the 8-42 month follow-up, neonates with PCD showed no clinical symptoms but normal growth. Blood level of free carnitine was raised in all mothers after the treatment. CONCLUSION: The incidence of neonatal PCD in Henan is 1 in 34 317, with the most common mutation being c.1400C>G. Above finding has enriched the spectrum of SLC22A5 gene mutations.


Assuntos
Cardiomiopatias/genética , Carnitina/deficiência , Hiperamonemia/genética , Doenças Musculares/genética , Membro 5 da Família 22 de Carreadores de Soluto/genética , Cardiomiopatias/epidemiologia , Carnitina/administração & dosagem , Carnitina/genética , China , Feminino , Humanos , Hiperamonemia/epidemiologia , Recém-Nascido , Doenças Musculares/epidemiologia , Mutação , Triagem Neonatal
19.
Prog Cardiovasc Dis ; 62(5): 390-394, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31669768

RESUMO

Symptoms during statin therapy are common and often attributed to statin intolerance. Recent data suggest few patients are truly intolerant to statins. Muscle symptoms are similar in statin and control groups in blinded treatment periods of clinical trials. The "nocebo" effect may occur during open-label statin treatment, when previously asymptomatic study participants report symptoms attributed to statin therapy, or during placebo-controlled trials. Most patients reporting statin intolerance can tolerate blinded moderate intensity statin therapy. In clinical practice the large majority of patients are willing to retry a statin, and of those who do, >80-90% successfully remain on statin therapy long-term. Emerging evidence from brain imaging studies and contemporary approaches to pain management suggests that building trust and managing patient expectations can minimize the "nocebo" effect in statin-treated patients.


Assuntos
Dislipidemias/tratamento farmacológico , Inibidores de Hidroximetilglutaril-CoA Redutases/efeitos adversos , Lipídeos/sangue , Doenças Musculares/terapia , Biomarcadores/sangue , Ensaios Clínicos como Assunto , Dislipidemias/sangue , Dislipidemias/diagnóstico , Humanos , Doenças Musculares/induzido quimicamente , Doenças Musculares/epidemiologia , Efeito Nocebo , Estudos Observacionais como Assunto , Medição de Risco , Fatores de Risco
20.
Orphanet J Rare Dis ; 14(1): 234, 2019 10 26.
Artigo em Inglês | MEDLINE | ID: mdl-31655616

RESUMO

BACKGROUND: Neutral lipid storage disease with myopathy (NLSDM) is a rare clinical heterogeneous disorder caused by mutations in the patatin-like phospholipase domain-containing 2 (PNPLA2) gene. NLSDM usually presents skeletal myopathy, cardiomyopathy and the multiple organs dysfunction. Around 50 cases of NLSDM have been described worldwide, whereas the comprehensive understanding of this disease are still limited. We therefore recruit NLSDM patients from 10 centers across China, summarize the clinical, muscle imaging, pathological and genetic features, and analyze the genotype-phenotype relationship. RESULTS: A total of 45 NLSDM patients (18 men and 27 women) were recruited from 40 unrelated families. Thirteen patients were born from consanguineous parents. The phenotypes were classified as asymptomatic hyperCKemia (2/45), pure skeletal myopathy (18/45), pure cardiomyopathy (4/45), and the combination of skeletal myopathy and cardiomyopathy (21/45). Right upper limb weakness was the early and prominent feature in 61.5% of patients. On muscle MRI, the long head of the biceps femoris, semimembranosus and adductor magnus on thighs, the soleus and medial head of the gastrocnemius on lower legs showed the most severe fatty infiltration. Thirty-three families were carrying homozygous mutations, while seven families were carrying compound heterozygous mutations. A total of 23 mutations were identified including 11 (47.8%) point mutations, eight (34.8%) deletions and four (17.4%) insertions. c.757 + 1G > T, c.245G > A and c.187 + 1G > A were the three most frequent mutations. Among four groups of phenotypes, significant differences were shown in disease onset (< 20 years versus ≥20 years old, p = 0.003) and muscle pathology (with rimmed vacuoles versus without rimmed vacuoles, p = 0.001). PNPLA2 mutational type or functional defects did not show great impact on phenotypes. CONCLUSION: We outline the clinical and genetic spectrum in a large cohort of NLSDM patients. Selective muscle fatty infiltration on posterior compartment of legs are characteristic of NLSDM. Chinese patients present with distinctive and relative hotspot PNPLA2 mutations. The disease onset age and pathological appearance of rimmed vacuoles are proved to be related with the clinical manifestations. The phenotypes are not strongly influenced by genetic defects, suggesting the multiple environmental risk factors in the development of NLSDM.


Assuntos
Erros Inatos do Metabolismo Lipídico/diagnóstico por imagem , Erros Inatos do Metabolismo Lipídico/epidemiologia , Doenças Musculares/diagnóstico por imagem , Doenças Musculares/epidemiologia , China , Estudos de Coortes , Feminino , Predisposição Genética para Doença , Humanos , Erros Inatos do Metabolismo Lipídico/genética , Masculino , Músculo Esquelético/diagnóstico por imagem , Doenças Musculares/genética
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