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Monitoring glycemic control status is the cornerstone of diabetes management. This study aimed to reveal whether moderate-carbohydrate (CHO) diets increase the risk of free fatty acid (FFA) levels, and it presents the short-term effects of four different diet models on blood sugar, glycemic variability (GV), and FFA levels. This crossover study included 17 patients with type 1 diabetes mellitus to identify the effects of four diets with different CHO contents and glycemic index (GI) on GV and plasma FFA levels. Diet 1 (D1) contained 40% CHO with a low GI, diet 2 (D2) contained 40% CHO with a high GI, diet 3 (D3) contained 60% CHO with a low GI, and diet 4 (D4) contained 60% CHO with a high GI. Interventions were performed with sensor monitoring in four-day periods and completed in four weeks. No statistical difference was observed among the groups in terms of blood glucose area under the curve (p = 0.78), mean blood glucose levels (p = 0.28), GV (p = 0.59), and time in range (p = 0.567). FFA and total triglyceride levels were higher in the D1 group (p < 0.014 and p = 0.002, respectively). Different diets may increase the risk of cardiovascular diseases by affecting GI, FFA, and blood glucose levels.
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Glicemia , Estudos Cross-Over , Diabetes Mellitus Tipo 1 , Carboidratos da Dieta , Ácidos Graxos não Esterificados , Índice Glicêmico , Humanos , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/dietoterapia , Ácidos Graxos não Esterificados/sangue , Glicemia/metabolismo , Carboidratos da Dieta/administração & dosagem , Masculino , Feminino , Adulto , Controle Glicêmico/métodos , Pessoa de Meia-Idade , Adulto Jovem , Triglicerídeos/sangueRESUMO
BACKGROUND: Lipodystrophy is a rare disease characterized by loss of adipose tissue. Natural history studies have demonstrated significant burden of disease; however, there is limited data on the impact of lipodystrophy on quality of life (QoL) and psychoemotional well-being. The QuaLip study is a prospective observational real-world study that aims to determine the impact of lipodystrophy on QoL and psychoemotional well-being and explore subjective burden of the disease. Sixty-seven adult patients and eight pediatric patients with lipodystrophy were included. Patients were followed up for 24 months and assessments were repeated every three months. Patients were examined by licensed psychiatrists at baseline, and at year 1 and year 2 visits. RESULTS: Eighteen (27.69%) of 65 adult patients (two subjects refused psychiatric assessment) were diagnosed with a psychiatric disorder (e.g., depressive episodes, mixed anxiety and depressive disorder, anxiety disorder, adjustment disorder, recurrent depression, panic disorder, generalized anxiety disorder, unspecified mood disorder, nonorganic sleep disorder, post-traumatic stress disorder, depressive episode comorbidity, social phobia and obsessive-compulsive disorder comorbidity). Lipodystrophy disease and QoL questionnaires revealed a significant disease burden over the study period. More than one-third of patients reported depression symptoms on the Beck Depression Inventory and more than one-fourth of the patients reported significant hunger throughout the study period. Physical appearance, fatigue, and pain contributed to the disease burden. QoL scores were lower in patients with psychiatric disease and in those with poor metabolic control. Attention deficit hyperactivity disorder, depressive disorder, sub-threshold depressive symptoms, obsessive-compulsive disorder, appetite problems, and issues with physical appearance were identified in selected pediatric subjects. CONCLUSIONS: Lipodystrophy has a significant impact on QoL and psychoemotional well-being. Psychiatric disorders seem to be underdiagnosed among patients with lipodystrophy.
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Lipodistrofia , Qualidade de Vida , Adulto , Criança , Humanos , Tecido Adiposo , Transtornos de Ansiedade , Efeitos Psicossociais da Doença , Estudos ProspectivosRESUMO
PURPOSE: The OPG/RANKL (osteoprotegerin/receptor activator of nuclear factor kappa-B) system, which plays a crucial role in bone metabolism, is also associated with vascular calcification. Acromegaly is characterized by excessive secretion of growth hormone and insulin-like growth factor, and studies have demonstrated an elevated risk of cardiovascular disease in individuals with acromegaly. In this study, our objective was to investigate the relationship between OPG/RANKL and various cardiovascular risk scoring systems. METHODS: We recruited 44 consecutive acromegaly patients and 41 healthy controls with a similar age and gender distribution for this study. RESULTS: While RANKL levels were significantly higher in the acromegaly group compared to the controls, OPG levels were not found to be significantly different between the two groups. Furthermore, within the acromegaly group, RANKL levels were significantly higher in patients with active acromegaly compared to those with controlled acromegaly. Osteoprotegerin levels showed a positive correlation with the Framingham risk score (FRS) in the acromegaly group. Linear regression analysis revealed an association of OPG with FRS (adjusted R2 value of 21.7%). CONCLUSION: OPG and RANKL may serve as potential markers for assessment of cardiovascular calcification and prediction of the cardiovascular risk status in acromegalic patients.
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Acromegalia , Doenças Cardiovasculares , Humanos , Osteoprotegerina , Receptor Ativador de Fator Nuclear kappa-B , Fatores de Risco , Fatores de Risco de Doenças Cardíacas , Ligante RANKRESUMO
INTRODUCTION: Not only are early detection and treatment of diabetic foot ulcers important, but also acknowledging potential risk factors for amputation gives clinicians a considerable advantage in preventing amputations. Amputations impact both healthcare services and the physical and mental health of patients. This study aimed to investigate the risk factors for amputation in patients with diabetic foot ulcers. METHODS: The sample for this study was patients with diabetic foot ulcers who were treated by the diabetic foot council at our hospital between 2005 and 2020. A total of 32 risk factors for amputation were identified and investigated among 518 patients. RESULTS: Our univariate analysis showed that 24 of 32 defined risk factors were statistically significant. In the multivariate analysis using the Cox regression model, seven risk factors remained statistically significant. The risk factors most significantly associated with amputation were Wagner grading, abnormal peripheral arteries, hypertension, high thrombocyte levels, low haematocrit levels, hypercholesterolaemia and male sex, respectively. The most common cause of death in patients with diabetes who have undergone amputation is cardiovascular disease, followed by sepsis. CONCLUSION: To enable optimum treatment of patients with diabetic foot ulcers it is important for physicians to be aware of the amputation risk factors, and thus avoid amputations. Correcting risk factors, using suitable footwear and routinely inspecting feet are crucial factors for preventing amputations in patients with diabetic foot ulcers.
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Objective. Besides the early detection and treatment of diabetic foot ulcers, being aware of the risk factors for major amputation plays a crucial role in preventing the major lower limb amputations. Major lower limb amputations are not just mentally and physically hard for patients, but also have an effect on patient's survival and are a financial burden on both patients and healthcare systems. Subjects and Methods. We defined 37 potential risk factors for major amputation and these risk factors were investigated among 507 patients who had ulcers in their feet and were seen by the diabetic foot ulcer council at Ege University Faculty of Medicine. In our study, 106 (20.9%) patients ended up undergoing major lower limb amputation. Results. The univariate analysis showed that 24 defined risk factors were statistically significant. In the multivariate analysis using the Cox regression model, 6 risk factors remained statistically significant. Multivariate-adjusted hazard ratios were 4.172 for hyperlipidemia, 3.747 for albumin <3.365 g/dL, 3.368 for C-reactive protein (CRP) >2.185 mg/L, 2.067 for presence of gangrenous Wagner stage, 1.931 for smoking tobacco >30 pack/year, and 1.790 for hematocrit (HCT) <31.5%. Most patients with major amputation presented with a neuroischemic foot (58%). Gender and age were not found to be risk factors for major amputation. Having less than 7% of hemoglobin A1c (HbA1c) levels had a direct proportion with major amputation numbers. The mortality rates in one year, two and three years after the major amputation operations were 24.6%, 30%, and 35.9%, respectively. Conclusion. Being familiar with these risk factors for major amputation is crucial for multi-disciplinary teams to take good care of patients with diabetic foot ulcers and to lower the need for major amputations.
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Diabetes Mellitus , Pé Diabético , Humanos , Pé Diabético/cirurgia , Fatores de Risco , Amputação Cirúrgica , Proteína C-Reativa , Estudos RetrospectivosRESUMO
CONTEXT: The diagnosis of familial partial lipodystrophy (FPLD) is currently made based on clinical judgment. OBJECTIVE: There is a need for objective diagnostic tools that can diagnose FPLD accurately. METHODS: We have developed a new method that uses measurements from pelvic magnetic resonance imaging (MRI) at the pubis level. We evaluated measurements from a lipodystrophy cohort (n = 59; median age [25th-75th percentiles]: 32 [24-44]; 48 females and 11 males) and age- and sex-matched controls (n = 29). Another dataset included MRIs from 289 consecutive patients. RESULTS: Receiver operating characteristic curve analysis revealed a potential cut-point of ≤13 mm gluteal fat thickness for the diagnosis of FPLD. A combination of gluteal fat thickness ≤13 mm and pubic/gluteal fat ratio ≥2.5 (based on a receiver operating characteristic curve) provided 96.67% (95% CI, 82.78-99.92) sensitivity and 91.38% (95% CI, 81.02-97.14) specificity in the overall cohort and 100.00% (95% CI, 87.23-100.00) sensitivity and 90.00% (95% CI, 76.34-97.21) specificity in females for the diagnosis of FPLD. When this approach was tested in a larger dataset of random patients, FPLD was differentiated from subjects without lipodystrophy with 96.67% (95% CI, 82.78-99.92) sensitivity and 100.00% (95% CI, 98.73-100.00) specificity. When only women were analyzed, the sensitivity and the specificity was 100.00% (95% CI, 87.23-100.00 and 97.95-100.00, respectively). The performance of gluteal fat thickness and pubic/gluteal fat thickness ratio was comparable to readouts performed by radiologists with expertise in lipodystrophy. CONCLUSION: The combined use of gluteal fat thickness and pubic/gluteal fat ratio from pelvic MRI is a promising method to diagnose FPLD that can reliably identify FPLD in women. Our findings need to be tested in larger populations and prospectively.
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Lipodistrofia Parcial Familiar , Lipodistrofia , Masculino , Humanos , Feminino , Lipodistrofia Parcial Familiar/diagnóstico por imagem , Lipodistrofia Parcial Familiar/patologia , Lipodistrofia/patologia , Imageamento por Ressonância Magnética , Osso Púbico , Curva ROC , Pelve/diagnóstico por imagem , Pelve/patologiaRESUMO
PURPOSE: Acromegaly is associated with oxidative stress and inflammation parameters. Chitotriosidase (CHITO) is a marker of macrophage activation and plays a pivotal role in the activation of inflammatory and immunological responses. Our study aimed to determine CHITO,YKL-40, advanced glycation end product (AGE), and high-sensitivity C-reactive protein (hsCRP) levels to investigate malondialdehyde (MDA), catalase, superoxide dismutase (SOD), and glutathione peroxidase (GSH-Px) activities and to evaluate any association of these parameters with carotid intima media thickness (cIMT) in patients with controlled acromegaly. METHODS: Thirty controlled acromegaly patients and 41 age- and sex-matched control cases were studied. We obtained demographic data, hormonal and metabolic parameters, and cIMT. CHITO activity was measured with the fluorometric method of Chamoles et al. YKL-40 and hsCRP levels were measured using ELISA. AGEs were measured based on spectrofluorimetric detection. GSH-Px activity was determined by a colorimetric assay. MDA, SOD, and catalase activities were determined in hemolysis. RESULTS: Higher CHITO, AGE, and hsCRP concentrations were observed in patients with acromegaly compared to controls. SOD levels were non-significantly higher in the acromegaly group, while catalase activities were lower in patients with acromegaly. Correlation analyses of CHITO, AGEs, YKL-40, hsCRP, MDA, catalase, GSH-Px, and SOD with metabolic, anthropometric, and laboratory parameters did not demonstrate any significant correlation (p > 0.05). There was no significant difference between groups with regard to cIMT levels. CONCLUSION: This is the first study investigating CHITO and AGE levels in patients with acromegaly. Serum CHITO, AGE, and hsCRP levels in acromegalic patients were significantly increased. It may be important to evaluate CHITO, AGE, and hsCRP levels in acromegalic patients who are already under cardiometabolic surveillance due to risk of developing cardiovascular disease.
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Acromegalia , Humanos , Acromegalia/complicações , Catalase , Espessura Intima-Media Carotídea , Proteína C-Reativa , Proteína 1 Semelhante à Quitinase-3 , Estudos de Casos e Controles , Antioxidantes , Estresse Oxidativo , Superóxido Dismutase , Produtos Finais de Glicação Avançada , Glutationa PeroxidaseRESUMO
The purpose of this study is to evaluate the foot care self-efficacy of diabetic foot patients and the effect of an educational intervention for improving it. This study was of a semi-experimental design and was conducted between January and December 2019 in a diabetic foot council of a university hospital. After power analysis to determine sample size, 33 participants meeting the inclusion criteria were included in the study. A Patient Identification Form and Diabetic Foot Care Self-Efficacy Scale (DFCSES) were used to collect data. Of the patients, 51.5% were male and the mean age was 54.91 ± 16.61 years. The mean score of DFCSES was 50.18 ± 20.88 before education and 72.67 ± 20.74 after education. The educational intervention has large effects on self-efficacy (d = 1.233), perceived knowledge level on diabetic foot (d = 1.102), perceived health status (d = 0.859), and perceived quality of life (d = 0.807). Educational intervention was found to be an effective way to improve foot care self-efficacy, perceived knowledge level on diabetic foot, perceived health status, and perceived quality of life.
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Diabetes Mellitus , Pé Diabético , Humanos , Masculino , Adulto , Pessoa de Meia-Idade , Idoso , Feminino , Autoeficácia , Pé Diabético/diagnóstico , Pé Diabético/terapia , Autocuidado , Qualidade de Vida , Estudos ProspectivosRESUMO
Reduced life expectancy has resulted from an increased incidence of chronic complications in patients with diabetes. The diabetic foot is one of these complications and generally presents together with diabetic neuropathy and vascular insufficiency. Hypoxia-inducible factor-1α (HIF-1α) is important in developing the adaptation response to hypoxia and facilitates healing through regulation of keratinocyte migration and epithelium restoration in wounds. Fetuin-A is a transporter protein that is synthesized in the liver and inhibits vascular and ectopic calcifications. It has been observed that altered fetuin-A is associated with peripheral artery disease through vascular calcification and is associated with inflammation and metabolic syndrome occurrence in diabetic patients. Fibrinogen is an acute-phase reactant and has a major role in homeostasis, tissue repair, and wound healing. Increased fibrinogen blood level is one of the factors that facilitates the hypercoagulability in diabetics. Homocysteine has atherogenic features and causes vascular toxicity by enhancing low-density lipoprotein oxidation. We evaluated the association of serum HIF-1α, fetuin-A, fibrinogen, and homocysteine levels with amputation in 31 patients diagnosed with diabetes mellitus. According to our evaluation, a negative correlation was determined between fetuin-A and amputation level (P = .012, r = -0.450), which was statistically significant. Unfortunately, there was no significant correlation between HIF-1α, fibrinogen, homocysteine, and amputation level (P > .05). As a result, it was suggested that vascular calcification due to fetuin-A deficiency may be important in the diabetic foot pathogenesis and that fetuin-A levels may be a predictor for amputation level.
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Pé Diabético , Calcificação Vascular , Humanos , Pé Diabético/patologia , alfa-2-Glicoproteína-HS , Subunidade alfa do Fator 1 Induzível por Hipóxia/metabolismo , Fibrinogênio/metabolismo , Homocisteína , Amputação CirúrgicaAssuntos
Hipotireoidismo , Tiroxina , Humanos , Hipotireoidismo/tratamento farmacológico , TireotropinaRESUMO
INTRODUCTION: Pituicytoma is a rare tumor of the pituitary gland derived from neurohypophyseal pituicytes. CASE 1: A 58-year-old female presented with decreased vision; she was admitted to the neurosurgery department of Ege University after the detection of a pituitary macroadenoma. Magnetic resonance imaging (MRI) showed a 28 * 18 * 17-mm suprasellar mass, and laboratory tests revealed hypopituitarism. Hydrocortisone and L-thyroxine treatment were initiated, and the patient underwent resection through the endoscopic endonasal approach (EEA). The histopathological examination revealed a pituicytoma. The recurrence of tumor was detected during the 1-year follow-up, and the patient is awaiting surgery. CASE 2: A 70-year-old woman presented with visual changes; she had a past medical history of hypophyseal macroadenoma and pituicytoma resected through an EEA in 2012 and 2017, respectively. During follow-up, 2 years after the second surgery, MRI showed progression of the pituicytoma then measuring 38 × 23 × 22 mm; it had invaded the cavernous sinus and was causing hydrocephaly and panhypopituitarism. The patient underwent the third resection through the transcranial approach in order to minimize bleeding. After this surgery, the patient developed diabetes insipidus and underwent treatment with desmopressin. Histopathological examination revealed a pituicytoma. At 6-month follow-up, imaging showed a sellar suprasellar mass 37 × 22 × 24 mm invading the cavernous sinus, indicative of recurrence. In the postoperative period, the patient applied to the department of radiation oncology to have fractionated radiotherapy. DISCUSSION: Pituicytomas are known to be low-grade tumors; because of their rarity, they are a real challenge. These patients should be followed up closely.
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Glioma , Neoplasias Hipofisárias , Idoso , Feminino , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Hipófise/fisiologia , Neoplasias Hipofisárias/diagnóstico por imagem , Neoplasias Hipofisárias/cirurgiaRESUMO
Diabetes mellitus (DM) is a chronic disease that has become a global health problem. As the population of people with diabetes is growing worldwide, the prevalence of complications associated with DM, such as diabetic foot, also increases. Neuropathy and high plantar pressure are the two most frequent causes of foot ulceration. Since diabetic wounds tend to heal slowly, it is crucial to prevent diabetic foot ulcers before they occur. In this study, the efficacy of a sock developed for diabetes in the previous research of the authors was investigated in a clinical study with the participation of patients with diabetes over a 6-month period. At the end of the study, it was observed that none of the participants had experienced any new ulcers, bacterial or fungal infections, or callus formation during this research. Moreover, a slight decrease in pressure was observed for the first, second, and third metatarsal bones when the socks were worn on day 1. On the other hand, pressure reduction was identified for the fourth and fifth metatarsal bones in all following measurements. However, analyses revealed that duration of usage did not have a statistically significant effect on overall plantar pressure. It was also found that pressure on the fourth and fifth metatarsal bones significantly decreased. Assessment of wearing comfort revealed the satisfaction of the patients, as well. Based on the promising outcomes of this clinical evaluation, these socks developed for people with diabetes can be strongly expected to help avoid diabetic foot ulcers.
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Diabetes Mellitus , Pé Diabético , Ossos do Metatarso , Pé Diabético/prevenção & controle , Humanos , Pressão , CicatrizaçãoRESUMO
OBJECTIVES: LMNA variants have been previously associated with cardiac abnormalities independent of lipodystrophy. We aimed to assess cardiac impact of familial partial lipodystrophy (FPLD) to understand the role of laminopathy in cardiac manifestations. STUDY DESIGN: Retrospective cohort study. METHODS: Clinical data from 122 patients (age range: 13-77, 101 females) with FPLD were analysed. Mature human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) from a patient with an LMNA variant were studied as proof-of-concept for future studies. RESULTS: Subjects with LMNA variants had a higher prevalence of overall cardiac events than others. The likelihood of having an arrhythmia was significantly higher in patients with LMNA variants (OR: 3.77, 95% CI: 1.45-9.83). These patients were at higher risk for atrial fibrillation or flutter (OR: 5.78, 95% CI: 1.04-32.16). The time to the first arrhythmia was significantly shorter in the LMNA group, with a higher HR of 3.52 (95% CI: 1.34-9.27). Non-codon 482 LMNA variants were more likely to be associated with cardiac events (vs. 482 LMNA: OR: 4.74, 95% CI: 1.41-15.98 for arrhythmia; OR: 17.67, 95% CI: 2.45-127.68 for atrial fibrillation or flutter; OR: 5.71, 95% CI: 1.37-23.76 for conduction disease). LMNA mutant hiPSC-CMs showed a higher frequency of spontaneous activity and shorter action potential duration. Functional syncytia of hiPSC-CMs displayed several rhythm alterations such as early afterdepolarizations, spontaneous quiescence and spontaneous tachyarrhythmia, and significantly slower recovery in chronotropic changes induced by isoproterenol exposure. CONCLUSIONS: Our results highlight the need for vigilant cardiac monitoring in FPLD, especially in patients with LMNA variants who have an increased risk of developing cardiac arrhythmias. In addition, hiPSC-CMs can be studied to understand the basic mechanisms for the arrhythmias in patients with lipodystrophy to understand the impact of specific mutations.
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Células-Tronco Pluripotentes Induzidas , Lipodistrofia Parcial Familiar , Lipodistrofia , Adolescente , Adulto , Idoso , Feminino , Humanos , Lamina Tipo A/genética , Lipodistrofia Parcial Familiar/genética , Pessoa de Meia-Idade , Mutação , Fenótipo , Estudos Retrospectivos , Adulto JovemRESUMO
Background. Common variable immunodeficiency (CVID) is a rare disease characterized by humoral immunodeficiency, often causing sinopulmonary and gastrointestinal infections, and may cause enteropathy in some patients, which leads to severe malnutrition and electrolyte deficiencies. Although many autoimmune diseases are seen with increased frequency in CVID patients, primary hypoparathyroidism is extremely rare.Case presentation. A 50-year-old man with CVID presented with diarrhea. The patient had complaints for 2 years and was cachectic. He had severe electrolyte and vitamin deficiencies that did not respond to oral treatment. The diarrhea causes such as celiac, inflammatory bowel diseases, and gastrointestinal infections were excluded and the endoscopy showed enteropathic changes in the duodenum and colon. Concomitant hypoparathyroidism was also detected in the patient with hypocalcemia despite adequate replacement.Conclusion. Parenteral therapy should be considered in the management of CVID enteropathy cases that do not respond to oral replacement. Although very rare, hypoparathyroidism should be considered in the differential diagnosis of CVID patients with treatment-resistant hypocalcemia.
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Imunodeficiência de Variável Comum/complicações , Hipoparatireoidismo/complicações , Caquexia/etiologia , Caquexia/terapia , Imunodeficiência de Variável Comum/diagnóstico , Imunodeficiência de Variável Comum/terapia , Diarreia/etiologia , Diarreia/terapia , Humanos , Hipoparatireoidismo/diagnóstico , Imunoglobulinas Intravenosas/uso terapêutico , Masculino , Pessoa de Meia-Idade , Nutrição ParenteralRESUMO
BACKGROUND/AIMS: Lipodystrophy is a rare metabolic disorder characterized by near total or partial lack of subcutaneous adipose tissue and associated with insulin resistance. We aimed to evaluate the efficacy of magnetic resonance spectroscopy imaging (MRS) to explore the fat content of the liver in patients with lipodystrophy and to determine the relationship between the liver fat accumulation and clinical presentations of lipodystrophy. MATERIALS AND METHODS: Between July 2014 and February 2016, 34 patients with lipodystrophy were assessed by MRS for quantification of hepatic steatosis. All patients had metabolic abnormalities associated with insulin resistance. Metabolic parameters and the MRS findings were analyzed to identify potential correlations between the liver fat content and disease severity. RESULTS: The MRS fat ratios (MRS-FR) were markedly higher, indicating severe hepatic steatosis in lipodystrophy. Patients with generalized and partial lipodystrophy had comparable levels of MRS-FRs, although patients with generalized lipodystrophy were significantly younger. Patients with genetically based lipodystrophy had elevated MRS-FR compared to those with acquired lipodystrophy (p=0.042). The MRS-FR was positively correlated with liver enzyme alanine aminotransferase (p=0.028) and serum adiponectin (p=0.043). CONCLUSION: Our data suggest that MRS might be an effective, noninvasive imaging method to quantify hepatic fat content in patients with lipodystrophy. Further studies are needed to validate the technique and threshold values which would allow accurate comparison of data acquired by different machines and centers.
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Fígado Gorduroso/diagnóstico , Lipodistrofia/patologia , Espectroscopia de Ressonância Magnética/métodos , Tecido Adiposo/patologia , Adolescente , Adulto , Fígado Gorduroso/etiologia , Feminino , Humanos , Lipodistrofia/complicações , Fígado/patologia , Masculino , Reprodutibilidade dos Testes , Índice de Gravidade de Doença , Adulto JovemRESUMO
OBJECTIVE: Wound surface area can be measured with several assessment tools, including a manual planimetric method, ImageJ software and three-dimensional wound measurement (3DWM) methods. This study aimed to determine the advantages of each method as well as the concordance between them. METHOD: This reproducibility study included adult patient volunteers with diabetic foot ulcers (DFUs). Wounds with ambiguous borders were excluded. All included wounds were sequentially assessed with each of the three measurement methods, and the time for each measurement was recorded with a chronometer. SPSS and MedCalc package software were used for all statistical analyses. RESULTS: A total of 20 patients with 20 DFUs took part in the study. According to the measurement method, the average wound area was 6.41cm2 by the manual planimetric method, 6.53cm2 by ImageJ and 6.32cm2 by 3DWM. Correlation analyses revealed correlation coefficients of 0.997 between the manual planimetric method and ImageJ, 0.929 between the manual planimetric method and 3DWM, and 0.929 between ImageJ and 3DWM. Bland-Altman analysis was used to determine whether these three measurement methods could be used interchangeably. There was no significant difference between the three measurement methods and, therefore, it was concluded that they could be used interchangeably. Wound area measurement times were 173.35±19.38 seconds by the manual planimetric method, 61.60±9.21 seconds by ImageJ and 36.90±6.91 seconds by the 3DWM method. CONCLUSION: The three measurement methods studied can be used interchangeably, as each method is highly concordant with the other two. The fastest method was 3DWM and the manual planimetric method was the slowest.
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Diabetes Mellitus , Pé Diabético/patologia , Adulto , Pesos e Medidas Corporais , Humanos , Modelos Biológicos , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Software , CicatrizaçãoRESUMO
BACKGROUND: Classical heterozygous pathogenic variants of the lamin A/C (LMNA) gene cause autosomal dominant familial partial lipodystrophy type 2 (FPLD2). However, recent reports indicate phenotypic heterogeneity among carriers of LMNA pathogenic variants, and a few patients have been associated with generalized fat loss. CASE PRESENTATION: Here, we report a patient with a lamin A specific pathogenic variant in exon 11, denoted LMNA (c.1745G > A; p.R582H), present in the homozygous state. Fat distribution was compared radiographically to an unrelated heterozygote LMNA p.R582H patient from another pedigree, a healthy female control, a series of adult female subjects with congenital generalized lipodystrophy type 1 (CGL1, n = 9), and typical FPLD2 (n = 8). The whole-body MRI of the index case confirmed near-total loss of subcutaneous adipose tissue with well-preserved fat in the retroorbital area, palms and soles, mons pubis, and external genital region. This pattern resembled the fat loss pattern observed in CGL1 with only one difference: strikingly more fat was observed around mons pubis and the genital region. Also, the p.R582H LMNA variant in homozygous fashion was associated with lower leptin level and earlier onset of metabolic abnormalities compared to heterozygous p.R582H variant and typical FPLD2 cases. On the other hand, the heterozygous LMNA p.R582H variant was associated with partial fat loss which was similar to typical FPLD2 but less severe than the patients with the hot-spot variants at position 482. CONCLUSIONS: Our observations and radiological comparisons demonstrate an additive effect of LMNA pathogenic variants on the severity of fat loss and add to the body of evidence that there may be complex genotype-phenotype relationships in this interesting disease known as FPLD2. Although the pathological basis for fat loss is not well understood in patients harboring pathogenic variants in the LMNA gene, our observation suggests that genetic factors modulate the extent of fat loss in LMNA associated lipodystrophy.
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The purpose of this study was to evaluate the validity and reliability of the Turkish version of the Diabetic Foot Scale-Short Form (DFS-SF). The study was cross-sectional and conducted between January and October 2019 in a diabetic foot council of a university hospital. A total of 194 diabetic foot patients participated in the study. A Patient Identification Form and DFS-SF were used for data collection. Forward and backward translations were used in language validity. Expert opinions were obtained to determine the Content Validity Index. To determine construct validity, exploratory factor analysis and confirmatory factor analysis were used. Cronbach's α internal consistency coefficient, item-scale correlation, and test-retest reliability were used to evaluate reliability. It was found that Content Validity Index was 0.97 (0.86-1.00), the factor loading of scale varied from 0.378 to 0.982, Cronbach's α value varied from 0.81 to 0.94, and item-total correlations were between 0.30 and 0.75. The Turkish version of the DFS-SF was found valid and reliable to measure the quality of life of diabetic foot patients.
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Pé Diabético/psicologia , Qualidade de Vida , Traduções , Pé Diabético/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Psicometria/métodos , Psicometria/normas , Reprodutibilidade dos Testes , Inquéritos e Questionários , TurquiaAssuntos
Histiocitose de Células de Langerhans/diagnóstico , Câncer Papilífero da Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/diagnóstico , Histiocitose de Células de Langerhans/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Câncer Papilífero da Tireoide/patologia , Neoplasias da Glândula Tireoide/patologiaRESUMO
The near total lack of subcutaneous fat in congenital generalized lipodystrophy (CGL) leads to the accumulation of fat in ectopic organs and severe insulin resistance, which are associated with serious metabolic abnormalities. Cosmetic aspects of the disease are likely to affect the quality of life (QoL) and physiological well-being in these individuals. Metreleptin, recombinant human leptin, replacement treatment has been shown to have benefits in treating the metabolic abnormalities of CGL. In a patient with CGL caused by a homozygous AGPAT2 pathogenic variant, we examined QoL and mood alterations (depression and anxiety) caused by this chronic disease. Metreleptin replacement treatment led to dramatic metabolic improvement in our patient. It was also was associated with improvements in QoL, depression and anxiety scores. We suggest that there is need for studies to document the benefit of metreleptin replacement treatment on QoL and physiological well-being in patients with CGL.