RESUMO
Prior research has highlighted poor clinical outcomes in coronavirus disease 2019 (COVID-19)-infected patients with diabetes; however, susceptibility to COVID-19 infection in patients with diabetes has not been extensively studied. Participants aged ≥30 years who underwent COVID-19 testing from December 2019 to April 2020 were analyzed using the National Health Insurance Service data in South Korea. In a cohort comprising 29,433 1:1 propensity score-matched participants, COVID-19 positivity was significantly higher in participants with diabetes than in those without diabetes (512 [3.5%] vs. 395 [2.7%], P<0.001). Logistic regression analysis indicated that diabetes significantly increased the risk of COVID-19 test positivity (odds ratio, 1.307; 95% confidence interval, 1.144 to 1.493; P<0.001). Patients with diabetes exhibited heightened COVID-19 infection rates compared to individuals without diabetes, and diabetes increased the susceptibility to COVID-19, reinforcing the need for heightened preventive measures, particularly considering the poor clinical outcomes in this group.
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We investigated the potential association between ketonuria during treatment with sodium-glucose cotransporter-2 (SGLT2) inhibitors and its renoprotective effect in patients with type 2 diabetes. We included 192 patients who had received SGLT2 inhibitors for more than 6 months. After propensity score matching, 52 patients each were allocated into groups with or without ketonuria, respectively. The estimated glomerular filtration rate exhibited a significant improvement only in subjects with ketonuria (without ketonuria: mean difference, -0.02 mL/min/1.73 m2 [95% confidence interval (CI), -3.87 to 3.83 mL/min/1.73 m2] vs. with ketonuria: mean difference, 6.81 mL/min/1.73 m2 [95% CI, 3.16 to 10.46 mL/min/1.73 m2]; P<0.001). Improvement in estimated glomerular filtration rate at 6 months was associated with female sex and lower baseline body weight, blood pressure, and triglyceride levels in patients with ketonuria. In conclusion, the presence of ketonuria was associated with the renoprotective effect of SGLT2 inhibitors, and female sex and the absence of metabolic syndrome components may serve as additional indicators of these medications' substantial renoprotective effects in individuals with ketonuria.
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Diabetes Mellitus Tipo 2 , Taxa de Filtração Glomerular , Inibidores do Transportador 2 de Sódio-Glicose , Humanos , Inibidores do Transportador 2 de Sódio-Glicose/uso terapêutico , Diabetes Mellitus Tipo 2/tratamento farmacológico , Diabetes Mellitus Tipo 2/complicações , Feminino , Masculino , Pessoa de Meia-Idade , Taxa de Filtração Glomerular/efeitos dos fármacos , Idoso , Estudos Retrospectivos , Cetose/induzido quimicamente , Rim/efeitos dos fármacos , Rim/fisiopatologia , Nefropatias Diabéticas/tratamento farmacológicoRESUMO
BACKGRUOUND: Inconsistent results have been reported regarding the association between the use of antidiabetic drugs and the clinical outcomes of coronavirus disease 2019 (COVID-19). This study aimed to investigate the effect of antidiabetic drugs on COVID-19 outcomes in patients with diabetes using data from the National Health Insurance Service (NHIS) in South Korea. METHODS: We analyzed the NHIS data of patients aged ≥20 years who tested positive for COVID-19 and were taking antidiabetic drugs between December 2019 and June 2020. Multiple logistic regression analysis was performed to analyze the clinical outcomes of COVID-19 based on the use of antidiabetic drugs. RESULTS: A total of 556 patients taking antidiabetic drugs tested positive for COVID-19, including 271 male (48.7%), most of whom were in their sixties. Of all patients, 433 (77.9%) were hospitalized, 119 (21.4%) received oxygen treatment, 87 (15.6%) were admitted to the intensive care unit, 31 (5.6%) required mechanical ventilation, and 61 (11.0%) died. Metformin was significantly associated with the lower risks of mechanical ventilation (odds ratio [OR], 0.281; 95% confidence interval [CI], 0.109 to 0.720; P=0.008), and death (OR, 0.395; 95% CI, 0.182 to 0.854; P=0.018). Dipeptidylpeptidase-4 inhibitor (DPP-4i) were significantly associated with the lower risks of oxygen treatment (OR, 0.565; 95% CI, 0.356 to 0.895; P=0.015) and death (OR, 0.454; 95% CI, 0.217 to 0.949; P=0.036). Sulfonylurea was significantly associated with the higher risk of mechanical ventilation (OR, 2.579; 95% CI, 1.004 to 6.626; P=0.049). CONCLUSION: In patients with diabetes and COVID-19, metformin exhibited reduced risks of mechanical ventilation and death, DPP- 4i was linked with lower risks of oxygen treatment and death, while sulfonylurea was related to the increased risk of mechanical ventilation.
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COVID-19 , Hipoglicemiantes , Humanos , Masculino , Hipoglicemiantes/uso terapêutico , Feminino , Pessoa de Meia-Idade , COVID-19/epidemiologia , COVID-19/mortalidade , República da Coreia/epidemiologia , Idoso , Adulto , Respiração Artificial/estatística & dados numéricos , SARS-CoV-2 , Metformina/uso terapêutico , Diabetes Mellitus/epidemiologia , Diabetes Mellitus/tratamento farmacológico , Tratamento Farmacológico da COVID-19 , Hospitalização/estatística & dados numéricos , Resultado do Tratamento , Adulto Jovem , Inibidores da Dipeptidil Peptidase IV/uso terapêuticoRESUMO
Diabetic peripheral neuropathy (DPN) is one of the most prevalent chronic complications of diabetes. The lifetime prevalence of DPN is thought to be >50%, and 15%-25% of patients with diabetes experience neuropathic pain, referred to as "painful DPN." Appropriate treatment of painful DPN is important because this pain contributes to a poor quality of life by causing sleep disturbance, anxiety, and depression. The basic principle for the management of painful DPN is to control hyperglycemia and other modifiable risk factors, but these may be insufficient for preventing or improving DPN. Because there is no promising diseasemodifying medication for DPN, the pain itself needs to be managed when treating painful DPN. Drugs for neuropathic pain, such as gabapentinoids, serotonin-norepinephrine reuptake inhibitors, tricyclic antidepressants, alpha-lipoic acid, sodium channel blockers, and topical capsaicin, are used for the management of painful DPN. The U.S. Food and Drug Administration (FDA) has approved pregabalin, duloxetine, tapentadol, and the 8% capsaicin patch as drugs for the treatment of painful DPN. Recently, spinal cord stimulation using electrical stimulation is approved by the FDA for the treatment for painful DPN. This review describes the currently available pharmacological and nonpharmacological treatments for painful DPN.
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Diabetes Mellitus , Neuropatias Diabéticas , Neuralgia , Estados Unidos , Humanos , Neuropatias Diabéticas/complicações , Neuropatias Diabéticas/tratamento farmacológico , Capsaicina/uso terapêutico , Qualidade de Vida , Cloridrato de Duloxetina/uso terapêutico , Neuralgia/tratamento farmacológico , Neuralgia/etiologia , Diabetes Mellitus/tratamento farmacológicoRESUMO
OBJECTIVES: Adult patients with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency have an increased risk of metabolic diseases. We aimed to investigate whether liquid chromatography-mass spectrometry (LC-MS)-based serum steroid profiling reveals metabolic phenotypes in adults with classic CAH. DESIGN AND METHODS: This study prospectively enrolled 63 adult patients with CAH and 38 healthy volunteers. The levels of the 24 steroids were quantified in the morning serum using LC-MS. Unsupervised clustering algorithms were applied to the serum steroid profiles to identify unique patterns associated with metabolic syndrome. RESULTS: Serum steroid profiles of patients with CAH were clearly delineated from those of healthy controls with a higher degree of interindividual heterogeneity. The unsupervised clustering algorithm divided CAH patients into two clusters based on serum steroid profile. Cluster 2 showed higher serum levels of glucocorticoids and androgens than cluster 1. The prevalence of metabolic syndrome was significantly higher in cluster 2 than in cluster 1 (37.8 % vs. 5.6 %, P = 0.011). Other clinical characteristics, including age, sex, body mass index, CAH subtypes, and glucocorticoid dose, did not differ between the two clusters. The multivariate logistic regression model of selective 15 steroids could discriminate metabolic syndrome in patients with CAH with an area under the receiver operating characteristic curve of 0.832 (95 % confidence interval:0.732-0.933). CONCLUSIONS: Serum steroid profiles can be valuable biomarkers for estimating metabolic risk in adult patients with CAH.
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Hiperplasia Suprarrenal Congênita , Síndrome Metabólica , Humanos , Adulto , Síndrome Metabólica/etiologia , Esteroides , Androgênios , Glucocorticoides , FenótipoRESUMO
PURPOSE: Central diabetes insipidus is a complication that may occur after pituitary surgery and has been difficult to predict. This study aimed to identify the cutoff levels of serum copeptin and its optimal timing for predicting the occurrence of central diabetes insipidus in patients who underwent transsphenoidal surgery. METHODS: This was a prospective observational study of patients who underwent transsphenoidal surgery for pituitary gland or stalk lesions. Copeptin levels were measured before surgery, 1 h after extubation, and on postoperative days 1, 2, 7, and 90. RESULTS: Among 73 patients, 14 (19.2%) and 13 (17.8%) patients developed transient and permanent central diabetes insipidus, respectively. There was no significant difference in copeptin levels before surgery and 1 h after extubation; copeptin levels on postoperative days 1, 2, 7, and 90 were significantly lower in patients with permanent central diabetes insipidus than in those without central diabetes insipidus. Copeptin measurement on postoperative day 2 exhibited the highest performance for predicting permanent central diabetes insipidus among postoperative days 1, 2, and 7 (area under the curve [95% confidence interval] = 0.754 [0.632-0.876]). Serum copeptin level at postoperative day 2(< 3.1 pmol/L) showed a sensitivity of 92.3% and a negative predictive value of 97.1%. The ratio of copeptin at postoperative day 2 to baseline (< 0.94) presented a sensitivity of 84.6% and a negative predictive value of 94.9%. The copeptin levels > 3.4 and 7.5 pmol/L at postoperative day 2 and 7 may have ruled out the occurrence of CDI with a negative predictive value of 100%. CONCLUSION: The copeptin level at postoperative day 2 and its ratio to baseline can predict the occurrence of permanent central diabetes insipidus after pituitary surgery.
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Diabetes Insípido Neurogênico , Diabetes Mellitus , Doenças da Hipófise , Humanos , Diabetes Insípido Neurogênico/etiologia , Doenças da Hipófise/complicações , Hipófise/cirurgia , Glicopeptídeos , Complicações Pós-Operatórias/epidemiologiaRESUMO
The Carney complex (CNC) is an autosomal dominant disorder characterized by endocrine and nonendocrine tumors. Loss-of-function variants of protein kinase A regulatory subunit 1 alpha (PRKAR1A) are common causes of CNC. Here, we present the case of a patient with CNC with a novel PRKAR1A missense variant. A 21-year-old woman was diagnosed with CNC secondary to acromegaly and adrenal Cushing syndrome. Genetic analysis revealed a novel missense heterozygous variant of PRKAR1A (c.176A>T). Her relatives, suspected of having CNC, also carried the same variant. RNA analysis revealed that this variant led to nonsense-mediated mRNA decay. In vitro functional analysis of the variant confirmed its role in increasing protein kinase A activity and cyclic adenosine monophosphate levels. This study broadens our understanding of the genetic spectrum of CNC. We suggest that PRKAR1A genetic testing and counseling be recommended for patients with CNC and their families.
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Complexo de Carney , Humanos , Feminino , Adulto Jovem , Adulto , Complexo de Carney/genética , Complexo de Carney/complicações , Complexo de Carney/metabolismo , Subunidade RIalfa da Proteína Quinase Dependente de AMP Cíclico/genética , Subunidade RIalfa da Proteína Quinase Dependente de AMP Cíclico/metabolismo , Proteínas Quinases Dependentes de AMP Cíclico/genética , Proteínas Quinases Dependentes de AMP Cíclico/metabolismo , Fenótipo , MutaçãoRESUMO
BACKGROUND: Although recent studies comparing various dosages and intervals of vitamin D supplementation have been published, it is yet to be elucidated whether there is an appropriate dose or interval to provide benefit regarding fracture risk. We aimed to assess the published evidence available to date regarding the putative beneficial effects of vitamin D supplements on fractures and falls according to various dosages and intervals. METHODS: We performed a meta-analysis of randomized controlled studies reporting associations between vitamin D supplementation and the risks of fractures and falls in PubMed, EMBASE, and Cochrane library. Studies with supplements of ergocalciferol or calcitriol, those with a number of event ≤10, or those with a follow-up duration of less than 6 months were also excluded. RESULTS: Thirty-two studies were included in the final analysis. Vitamin D supplementation with daily dose of 800 to 1,000 mg was associated with lower risks of osteoporotic fracture and fall (pooled relative risk [RR], 0.87; 95% confidence interval [CI], 0.78 to 0.97 and RR, 0.91; 95% CI, 0.85 to 0.98), while studies with <800 or >1,000 mg/day did not. Also, among intervals, daily administration of vitamin D was associated with the reduced risk of falls, while intermittent dose was not. Also, patients with vitamin D deficiency showed a significant risk reduction of falls after vitamin D supplementation. CONCLUSION: Daily vitamin D dose of 800 to 1,000 IU was the most probable way to reduce the fracture and fall risk. Further studies designed with various regimens and targeted vitamin D levels are required to elucidate the benefits of vitamin D supplements.
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Fraturas por Osteoporose , Deficiência de Vitamina D , Acidentes por Quedas/prevenção & controle , Suplementos Nutricionais , Humanos , Fraturas por Osteoporose/epidemiologia , Fraturas por Osteoporose/prevenção & controle , Vitamina DRESUMO
The relationship between androgen excess and bone health in patients with congenital adrenal hyperplasia (CAH) with 21-hydroxylase (21-OH) deficiency is not fully understood. This study demonstrated positive correlations between androgen hormones and bone mineral density (BMD) in CAH women with 21-OH deficiency. PURPOSE: This study aims to assess BMD and its association with androgen excess in women with CAH. METHODS: We enrolled 92 women with CAH with 21-OH deficiency and retrospectively reviewed their clinical features, hormone concentrations, body composition, glucocorticoid (GC) dose, and BMD. RESULTS: BMD was not different according to the subtypes of CAH. BMD at the lumbar spine was lower in women with CAH with regular menstruation than those with irregular menstruation (1.081 vs. 1.165 g/cm2, P < 0.05). BMD was lower in women with CAH with 17-hydroxyprogesterone (17-OHP) < 10 ng/mL than in those with ≥ 10 ng/mL (lumbar spine, 1.019 vs. 1.150 g/cm2; femur neck, 0.806 vs. 0.899 g/cm2; total hip, 0.795 vs. 0.943 g/cm2; all P < 0.05). After adjusting for age and BMI in correlation analyses, testosterone concentrations were positively correlated with lumbar spine, femur neck, and total hip BMD (r = 0.46, r = 0.38, and r = 0.35, respectively; all P < 0.05), while 17-OHP was positively correlated with lumbar spine BMD (r = 0.38, P < 0.01). In subgroup analysis, 17-OHP was positively correlated with BMD (lumbar spine, r = 0.22; femur neck, r = 0.22; total hip, r = 0.24; all P < 0.05) only in the group with a total cumulative dose of GC ≥ 156.0 g/m2. CONCLUSION: Androgen excess may have a protective effect on BMD in women with classic CAH and high cumulative doses of GC.
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Hiperplasia Suprarrenal Congênita , Absorciometria de Fóton , Androgênios/farmacologia , Densidade Óssea , Feminino , Colo do Fêmur/diagnóstico por imagem , Glucocorticoides , Humanos , Vértebras Lombares/diagnóstico por imagem , Estudos RetrospectivosRESUMO
Objective: Metabolic complications are common in patients with acromegaly. However, this occasionally does not improve post-surgery and may be related to postoperative weight gain. We aimed to investigate the postoperative weight change and factors associated with postoperative weight gain in patients with acromegaly. Design and Methods: Overall, 113 consecutive patients with body weight records pre- and 3-6 months post-surgery between October 2009 and March 2021 were enrolled. Patients were divided into three groups: weight loss (weight decrease ≥3%), stable, and weight gain (weight increase ≥3%). Hormone status, metabolic comorbidities, and anthropometric parameters were compared between the groups. Results: Among 113 patients, 29 (25.7%) and 26 (23.0%) patients lost and gained weight, respectively, post-surgery. There were no significant differences in baseline characteristics, including age at diagnosis, sex, body mass index, and growth hormone levels among the three groups. The prevalence of diabetes mellitus at diagnosis was significantly higher in the weight gain group than in the other groups. Patients with diabetes (n=22) had a 5.2-fold higher risk of postoperative weight gain than those with normal glucose tolerance (n=37) (P=0.006). In the diabetes mellitus group, the percentage lean mass decreased (-4.5 [-6.6-2.0]%, P=0.002), and the percentage fat mass significantly increased post-surgery (18.0 [4.6-36.6]%, P=0.003), whereas the normal glucose tolerance group did not show body composition changes post-surgery. Conclusion: In patients with acromegaly, 23% experienced ≥3% weight gain post-surgery. Diabetes mellitus at diagnosis is a significant predictor of weight and fat gain post-surgery.
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Acromegalia , Diabetes Gestacional , Acromegalia/complicações , Acromegalia/cirurgia , Composição Corporal , Índice de Massa Corporal , Feminino , Humanos , Gravidez , Aumento de PesoRESUMO
BACKGROUND: We investigated the prevalence of diabetic retinopathy (DR) in patients with undiagnosed diabetes through a nationwide survey, compared to those with known diabetes. METHODS: Among the participants of the Korean National Health and Nutrition Examination Surveys (KNHANES) from 2017 to 2018, individuals aged ≥40 years with diabetes and fundus exam results were enrolled. Sampling weights were applied to represent the entire Korean population. Newly detected diabetes patients through KNHANES were classified under "undiagnosed diabetes." RESULTS: Among a total of 9,108 participants aged ≥40 years, 951 were selected for analysis. Of them, 31.3% (standard error, ±2.0%) were classified under "undiagnosed diabetes." The prevalence of DR in patients with known and undiagnosed diabetes was 24.5%±2.0% and 10.7%±2.2%, respectively (P<0.001). The DR prevalence increased with rising glycosylated hemoglobin (HbA1c) levels in patients with known and undiagnosed diabetes (P for trend=0.001 in both). Among those with undiagnosed diabetes, the prevalence of DR was 6.9%±2.1%, 8.0%±3.4%, 5.6%±5.7%, 16.7%±9.4%, and 42.6%±14.8% for HbA1c levels of <7.0%, 7.0%-7.9%, 8.0%-8.9%, 9.0%-9.9%, and ≥10.0% respectively. There was no difference in the prevalence of hypertension, dyslipidemia, hypertriglyceridemia, or obesity according to the presence or absence of DR. CONCLUSION: About one-third of patients with diabetes were unaware of their diabetes, and 10% of them have already developed DR. Considering increasing the prevalence of DR according to HbA1c level was found in patients with undiagnosed diabetes like those with known diabetes, screening and early detection of diabetes and DR are important.
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Diabetes Mellitus , Retinopatia Diabética , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/epidemiologia , Retinopatia Diabética/diagnóstico , Retinopatia Diabética/epidemiologia , Hemoglobinas Glicadas/análise , Humanos , Inquéritos Nutricionais , Prevalência , Fatores de RiscoRESUMO
BACKGROUND: Monitoring adults with classical 21-hydroxylase deficiency (21OHD) is challenging due to variation in clinical and laboratory settings. Moreover, guidelines for adrenal imaging in 21OHD are not yet available. We evaluated the relationship between adrenal morphology and disease control status in classical 21OHD. METHODS: This retrospective, cross-sectional study included 90 adult 21OHD patients and 270 age- and sex-matched healthy controls. We assessed adrenal volume, width, and tumor presence using abdominal computed tomography and evaluated correlations of adrenal volume and width with hormonal status. We investigated the diagnostic performance of adrenal volume and width for identifying well-controlled status in 21OHD patients (17α-hydroxyprogesterone [17-OHP] <10 ng/mL). RESULTS: The adrenal morphology of 21OHD patients showed hypertrophy (45.6%), normal size (42.2%), and hypotrophy (12.2%). Adrenal tumors were detected in 12 patients (13.3%). The adrenal volume and width of 21OHD patients were significantly larger than those of controls (18.2±12.2 mL vs. 7.1±2.0 mL, 4.7±1.9 mm vs. 3.3±0.5 mm, P<0.001 for both). The 17-OHP and androstenedione levels were highest in patients with adrenal hypertrophy, followed by those with normal adrenal glands and adrenal hypotrophy (P<0.05 for both). Adrenal volume and width correlated positively with adrenocorticotropic hormone, 17-OHP, 11ß-hydroxytestosterone, progesterone sulfate, and dehydroepiandrosterone sulfate in both sexes (r=0.33-0.95, P<0.05 for all). For identifying well-controlled patients, the optimal cut-off values of adrenal volume and width were 10.7 mL and 4 mm, respectively (area under the curve, 0.82-0.88; P<0.001 for both). CONCLUSION: Adrenal volume and width may be reliable quantitative parameters for monitoring patients with classical 21OHD.
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Hiperplasia Suprarrenal Congênita , 17-alfa-Hidroxiprogesterona , Hiperplasia Suprarrenal Congênita/diagnóstico , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Estudos RetrospectivosRESUMO
AIMS/INTRODUCTION: The benefits of once-daily insulin degludec/aspart (IDegAsp) compared with basal insulin in type 2 diabetes patients have not been established. MATERIALS AND METHODS: This was a retrospective observational study. From a basal insulin cohort from three referral hospitals, patients were enrolled who initiated once-daily IDegAsp. A control group maintaining basal insulin was selected by propensity score matching. Glycated hemoglobin (HbA1c) changes over a period of 6 months and associated clinical factors were evaluated. RESULTS: The IDegAsp group and the control group comprised of 87 patients, respectively. Baseline HbA1c was comparable between the two groups (8.7 ± 0.9 vs 8.6 ± 0.9%, mean and standard deviation). After 6 months with matched insulin doses, HbA1c in the IDegAsp group was lower than that in the control group (8.1 ± 1.0 vs 8.4 ± 1.1%, P = 0.029). Among baseline variables, fasting plasma glucose (FPG) and fasting C-peptide in the IDegAsp were lower than that in the control (FPG 124.2 ± 38.4 vs 148.0 ± 50.6 mg/dL, P < 0.001). Considering that the lower FPG despite the comparable HbA1c could be related with the efficacy of IDegAsp, subgroup analysis was carried out according to a ratio of FPG-to-estimated average glucose, which is calculated from HbA1c. When compared with each control group, the superiority of IDegAsp in the reduction of HbA1c was significant only in the patients with a lower FPG-to-estimated average glucose ratio (0.49 ± 0.09), but not in those with a higher FPG-to-estimated average glucose ratio (0.79 ± 0.20). CONCLUSIONS: We observed that IDegAsp was more effective than basal insulin in patients with an FPG lower than predicted by HbA1c, which might be related with insulin deficiency and postprandial hyperglycemia in patients on basal insulin therapy.
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Glicemia/efeitos dos fármacos , Diabetes Mellitus Tipo 2/tratamento farmacológico , Hipoglicemiantes/uso terapêutico , Insulina de Ação Prolongada/uso terapêutico , Idoso , Peptídeo C/sangue , Diabetes Mellitus Tipo 2/sangue , Combinação de Medicamentos , Jejum/sangue , Feminino , Hemoglobinas Glicadas/efeitos dos fármacos , Humanos , Hiperglicemia/induzido quimicamente , Masculino , Pessoa de Meia-Idade , Estudos RetrospectivosRESUMO
ABSTRACT: FOXG1, located at chromosome 14q12, is critical for brain development, and patients with FOXG1 mutation exhibit developmental encephalopathy with high phenotypic variability, known as FOXG1 syndrome. Here, we report 3 cases of FOXG1 syndrome that presented with infantile hypotonia and microcephaly.A total of 145 children with developmental delay and/or hypotonia were evaluated by whole-exome sequencing (WES) in the pediatric neurology clinic and medical genetics center at Asan Medical Center Children's Hospital, from 2017 to 2019. Each FOXG1 mutation was confirmed by Sanger sequencing. The clinical findings of each patient with FOXG1 mutation were reviewed.WES identified de-novo, pathogenic, and heterozygous FOXG1 mutations in 3 of 145 patients in our patient cohort with developmental delay and/or hypotonia. The characteristics of brain magnetic resonance imaging (MRI) were reported as callosal anomaly, decrease in frontal volume, fornix thickening, and hypoplastic olfactory bulbs. A phenotype-genotype correlation was demonstrated as a patient with a novel missense mutation, c.761Aâ>âC (p.Tyr254Ser), in the forkhead domain had better outcome and milder brain abnormalities than the other 2 patients with truncating mutation in the Groucho binding domain site, c.958delC (p.Arg320Alafs), or N-terminal domain, c.506dup (p.Lys170GlnfsThe). Importantly, all 3 patients had hypoplastic olfactory bulbs on their brain MRI, which is a distinct and previously unrecognized feature of FOXG1 syndrome.This is the first report of FOXG1 syndrome in a Korean population; this condition accounts for 2% (3 of 145 patients) of our patient cohort with developmental delays and/or hypotonia. Our report contributes to understanding this extremely rare genetic condition in the clinical and genetic perspectives.
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Fatores de Transcrição Forkhead/genética , Microcefalia , Hipotonia Muscular/diagnóstico , Proteínas do Tecido Nervoso/genética , Bulbo Olfatório/patologia , Eletroencefalografia , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Microcefalia/diagnóstico por imagem , Microcefalia/genética , Doença dos Neurônios Motores , Hipotonia Muscular/genética , Mutação/genética , Bulbo Olfatório/diagnóstico por imagem , Síndrome de Rett/patologia , Sequenciamento do ExomaRESUMO
Ultrasonography (US) is the primary diagnostic tool for thyroid nodules, while the accuracy is operator-dependent. It is widely used not only by radiologists but also by physicians with different levels of experience. The aim of this study was to investigate whether US with computer-aided diagnosis (CAD) has assisting roles to physicians in the diagnosis of thyroid nodules. 451 thyroid nodules evaluated by fine-needle aspiration cytology following surgery were included. 300 (66.5%) of them were diagnosed as malignancy. Physicians with US experience less than 1 year (inexperienced, n = 10), or more than 5 years (experienced, n = 3) reviewed the US images of thyroid nodules with or without CAD assistance. The diagnostic performance of CAD was comparable to that of the experienced group, and better than those of the inexperienced group. The AUC of the CAD for conventional PTC was higher than that for FTC and follicular variant PTC (0.925 vs. 0.499), independent of tumor size. CAD assistance significantly improved diagnostic performance in the inexperienced group, but not in the experienced groups. In conclusion, the CAD system showed good performance in the diagnosis of conventional PTC. CAD assistance improved the diagnostic performance of less experienced physicians in US, especially in diagnosis of conventional PTC.
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Diagnóstico por Computador , Nódulo da Glândula Tireoide/diagnóstico por imagem , Biópsia por Agulha Fina , Diagnóstico por Computador/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Glândula Tireoide/diagnóstico por imagem , Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/diagnóstico , Nódulo da Glândula Tireoide/patologia , UltrassonografiaRESUMO
There is a lack of studies regarding the long-term outcomes of Asian adults with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. We hypothesized that adults with CAH are at higher metabolic risk than their age-, and sex-matched controls. We further investigated the long-term health outcome-related factors in adults with CAH. We compared metabolic risk between adults with CAH (71 men, 93 women) and age-, and sex-matched controls (190 men, 261 women) from the Korean National Health and Nutrition Examination Survey data. The presence of obesity, testicular adrenal rest tumors (TARTs), and menstrual irregularity was assessed. Hormone status and treatment regimens were compared according to the presence of adverse outcomes. The median age was 27.0 y and 28.0 y for men and women, respectively. Adults with CAH had a higher waist circumference (88.0 vs. 82.3 cm in men, and 83.5 vs. 72.3 cm in women), and blood pressure (125.0 vs. 113.0 mmHg in men, and 120.0 vs. 104.0 mmHg in women) than age- and sex-matched controls (P<0.05 for all). The 2.7-fold increased risk for hypertension (men) and 2.0-fold increased risk for obesity (women) was significant in patients with CAH (P<0.05 for both). Obese adults with CAH showed significantly higher adrenal limb thicknesses (men) and 17-hydroxyprogesterone and dehydroepiandrosterone sulfate levels (women) (P<0.05 for both). TARTs occurred in 58.1% of men and did not differ by hormone or treatment regimen. Irregular menstruation was observed in 57.1% of women, with higher dehydroepiandrosterone sulfate levels in those with irregular periods. Adults with CAH had a higher metabolic risk than the general population. Poor disease control may increase their risk of metabolic morbidity and menstrual irregularity.
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Hiperplasia Suprarrenal Congênita/metabolismo , Hiperplasia Suprarrenal Congênita/patologia , 17-alfa-Hidroxiprogesterona/metabolismo , Adulto , Feminino , Humanos , Masculino , Inquéritos Nutricionais , Obesidade/complicações , Obesidade/metabolismo , Obesidade/patologia , Avaliação de Resultados em Cuidados de Saúde , República da Coreia , Estudos Retrospectivos , Adulto JovemRESUMO
Adrenal cortical carcinoma (ACC) is an extremely rare disease with a variable prognosis. Current prognostic markers have limitations in identifying patients with a poor prognosis. Herein, we aimed to investigate the prognostic protein biomarkers of ACC using mass-spectrometry-based proteomics. We performed the liquid chromatography-tandem mass spectrometry (LC-MS/MS) using formalin-fixed paraffin-embedded (FFPE) tissues of 45 adrenal tumors. Then, we selected 117 differentially expressed proteins (DEPs) among tumors with different stages using the machine learning algorithm. Next, we conducted a survival analysis to assess whether the levels of DEPs were related to survival. Among 117 DEPs, HNRNPA1, C8A, CHMP6, LTBP4, SPR, NCEH1, MRPS23, POLDIP2, and WBSCR16 were significantly correlated with the survival of ACC. In age- and stage-adjusted Cox proportional hazard regression models, only HNRNPA1, LTBP4, MRPS23, POLDIP2, and WBSCR16 expression remained significant. These five proteins were also validated in TCGA data as the prognostic biomarkers. In this study, we found that HNRNPA1, LTBP4, MRPS23, POLDIP2, and WBSCR16 were protein biomarkers for predicting the prognosis of ACC.
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BACKGROUND: There has been controversy regarding the association between primary aldosteronism (PA) and dyslipidemia and few studies considered the effects of diabetes and renal function on lipid metabolism. We analyzed lipid profiles of PA patients and compared them to propensity-score (PS)-matched essential hypertension (EH) patients adjusting for glycemic status and renal function. METHODS: Patients who were diagnosed with PA using a saline-infusion test at Seoul National University Hospital from 2000 to 2018 were retrospectively analyzed. EH patients who had aldosterone-renin ratio (ARR) results were selected as controls. Covariates, including diabetes, were PS-matched for patients with PA, lateralized PA, non-lateralized PA, and high ARR to EH patients, respectively. RESULTS: Among a total of 80 PA and 80 EH patients, total cholesterol (TC) and triglyceride (TG) levels were significantly lower in the PA patients than in the EH patients (least-squares mean±standard error: 185.5±4.4 mg/dL vs. 196.2±4.4 mg/dL, P=0.047, for TC; and 132.3±11.5 mg/dL vs. 157.4±11.4 mg/dL, P=0.035, for TG) in fully adjusted model (adjusting for multiple covariates, including diabetes status, glycosylated hemoglobin level, and estimated glomerular filtration rate). There were no significant differences in high-density lipoprotein cholesterol (HDL-C) and low-density lipoprotein cholesterol levels between the two groups. According to increments in aldosterone levels, an increasing tendency of HDL-C and decreasing tendencies of TG and non-HDL-C were observed. CONCLUSION: PA patients had lower TC and TG levels than EH patients, independent of glycemic status and renal function.
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Hiperaldosteronismo , Hipertensão , Aldosterona , Hipertensão Essencial , Humanos , Hiperaldosteronismo/complicações , Hipertensão/diagnóstico , Lipídeos , Estudos RetrospectivosRESUMO
BACKGROUND AND PURPOSE: Dietary therapy (DT), including the ketogenic diet (KD), is one of the nonpharmacological treatment options for patient with drug-resistant epilepsy. However, maintaining DT in patients without seizure reduction is very difficult, so it is critical for clinicians to decide when to stop this intervention. METHODS: We retrospectively analyzed early clinical and laboratory findings and the clinical characteristics of children who received DT. The maintenance of DT and the clinical seizure frequency were assessed at 1, 3, 6, 12, and 24 months after KD initiation. Responders were defined as patients showing an overall reduction in seizure frequency of >50% relative to the baseline. RESULTS: We included 67 patients who received DT, but only 23 (34.3%) of these patients remained on DT at 6 months. Only 1 (5%) of the 20 responders at 1 month became a nonresponder at 6 months. The response rate at 6 months was significantly higher among patients under 2 years of age (15/17, 88.2%) than older patients (2/6, 33.3%; p=0.021). Moreover, the 6-month responders were significantly younger (29.4±38.6 months, mean±SD) than the nonresponders (98.9±84.6 months, p=0.012) at the initiation of the diet. A high blood ß-hydroxybutyrate (BHB) level at 1 month predicted a good DT response at 6 months. CONCLUSIONS: Most 1-month responders maintained their response on DT for up to 6 months. The blood BHB level at 1 month was significantly correlated with the 6-month seizure outcome. Confirming clinical and laboratory biomarkers for the efficacy of DT requires further studies with larger cohorts.