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1.
Lung ; 2024 Jun 12.
Artigo em Inglês | MEDLINE | ID: mdl-38864890

RESUMO

BACKGROUND: The increasing incidence of encountering lung nodules necessitates an ongoing search for improved diagnostic procedures. Various bronchoscopic technologies have been introduced or are in development, but further studies are needed to define a method that fits best in clinical practice and health care systems. RESEARCH QUESTION: How do basic bronchoscopic tools including a combination of thin (outer diameter 4.2 mm) and ultrathin bronchoscopes (outer diameter 3.0 mm), radial endobronchial ultrasound (rEBUS) and fluoroscopy perform in peripheral pulmonary lesion diagnosis? STUDY DESIGN AND METHODS: This is a retrospective review of the performance of peripheral bronchoscopy using thin and ultrathin bronchoscopy with rEBUS and 2D fluoroscopy without a navigational system for evaluating peripheral lung lesions in a single academic medical center from 11/2015 to 1/2021. We used a strict definition for diagnostic yield and assessed the impact of different variables on diagnostic yield, specifically after employment of the ultrathin bronchoscope. Logistic regression models were employed to assess the independent associations of the most impactful variables. RESULTS: A total of 322 patients were included in this study. The median of the long axis diameter was 2.2 cm and the median distance of the center of the lesion from the visceral pleural surface was 1.9 cm. Overall diagnostic yield was 81.3% after employment of the ultrathin bronchoscope, with more detection of concentric rEBUS views (93% vs. 78%, p < 0.001). Sensitivity for detecting malignancy also increased from 60.5% to 74.7% (p = 0.033) after incorporating the ultrathin scope into practice, while bronchus sign and peripheral location of the lesion were not found to affect diagnostic yield. Concentric rEBUS view, solid appearance, upper/middle lobe location and larger size of the nodules were found to be independent predictors of successful achievement of diagnosis at bronchoscopy. INTERPRETATION: This study demonstrates a high diagnostic yield of biopsy of lung lesions achieved by utilization of thin and ultrathin bronchoscopes. Direct visualization of small peripheral airways with simultaneous rEBUS confirmation increased localization rate of small lesions in a conventional bronchoscopy setting without virtual navigational planning.

2.
J Korean Soc Radiol ; 85(3): 637-642, 2024 May.
Artigo em Coreano | MEDLINE | ID: mdl-38873390

RESUMO

Rectal syphilis is a rare form of syphilis presentation and its symptoms, endoscopic and radiologic findings are nonspecific. Rectal syphilis typically presents with features such as concentric rectal wall thickening, mucosal hyperemia, perirectal fat stranding, and lymphadenopathy. Rectal cancer exhibits asymmetric wall thickening and lymph node necrosis, aiding in the differentiation between these two diseases. However, due to the considerable overlap in their respective manifestations, distinguishing between rectal syphilis and rectal cancer is extremely challenging without considering the patient's medical history. Rectal syphilis often leads to unnecessary tests or delayed treatment, as it can be mistaken for other benign diseases such as inflammatory bowel diseases in addition to rectal cancer. In this case report, we aim to provide a detailed report on the endoscopic, imaging, and pathological findings based on our experience with a case of suspected rectal malignancy that turned out to be rectal syphilis.

3.
N Engl J Med ; 2024 Jun 02.
Artigo em Inglês | MEDLINE | ID: mdl-38828945

RESUMO

BACKGROUND: Children with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency require treatment with glucocorticoids, usually at supraphysiologic doses, to address cortisol insufficiency and reduce excess adrenal androgens. However, such treatment confers a predisposition to glucocorticoid-related complications. In 2-week phase 2 trials, patients with CAH who received crinecerfont, a new oral corticotropin-releasing factor type 1 receptor antagonist, had decreases in androstenedione levels. METHODS: In this phase 3, multinational, randomized trial, we assigned pediatric participants with CAH, in a 2:1 ratio, to receive crinecerfont or placebo for 28 weeks. A stable glucocorticoid dose was maintained for 4 weeks, and the dose was then adjusted to a target of 8.0 to 10.0 mg per square meter of body-surface area per day (hydrocortisone dose equivalents), provided that the androstenedione level was controlled (≤120% of the baseline level or within the reference range). The primary efficacy end point was the change in the androstenedione level from baseline to week 4. A key secondary end point was the percent change in the glucocorticoid dose from baseline to week 28 while androstenedione control was maintained. RESULTS: A total of 103 participants underwent randomization, of whom 69 were assigned to the crinecerfont group and 34 to the placebo group; 100 (97%) remained in the trial at 28 weeks. At baseline, the mean glucocorticoid dose was 16.4 mg per square meter per day, and the mean androstenedione level was 431 ng per deciliter (15.0 nmol per liter). At week 4, the androstenedione level was substantially reduced in the crinecerfont group (-197 ng per deciliter [-6.9 nmol per liter]) but increased in the placebo group (71 ng per deciliter [2.5 nmol per liter]) (least-squares mean difference, -268 ng per deciliter [-9.3 nmol per liter]; P<0.001); the observed mean androstenedione value, obtained before the morning glucocorticoid dose, was 208 ng per deciliter (7.3 nmol per liter) in the crinecerfont group, as compared with 545 ng per deciliter (19.0 nmol per liter) in the placebo group. At week 28, the mean glucocorticoid dose had decreased (while androstenedione control was maintained) by 18.0% with crinecerfont but increased by 5.6% with placebo (least-squares mean difference, -23.5 percentage points; P<0.001). Headache, pyrexia, and vomiting were the most common adverse events. CONCLUSIONS: In this phase 3 trial, crinecerfont was superior to placebo in reducing elevated androstenedione levels in pediatric participants with CAH and was also associated with a decrease in the glucocorticoid dose from supraphysiologic to physiologic levels while androstenedione control was maintained. (Funded by Neurocrine Biosciences; CAHtalyst Pediatric ClinicalTrials.gov number, NCT04806451.).

4.
Hepatol Res ; 2024 May 04.
Artigo em Inglês | MEDLINE | ID: mdl-38703383

RESUMO

AIMS: We aimed to explore the extent to which individuals previously diagnosed with nonalcoholic fatty liver disease (NAFLD) meet the criteria fulfilled with the new nomenclature, metabolic dysfunction-associated steatotic liver disease (MASLD), within an Asian primary clinic cohort. Additionally, we assessed the reliability of the diagnostic performance of FIB-4 and NAFLD fibrosis score (NFS) for MASLD within the primary clinic cohort. METHODS: This retrospective cross-sectional study included participants who underwent magnetic resonance elastography and abdominal ultrasonography during their health checkups at nationwide health promotion centers (n = 6740). RESULTS: The prevalence rates of NAFLD and MASLD diagnosed based on ultrasonography results were 36.7% and 38.0%, respectively. Notably, 96.8% of patients in the NAFLD cohort fulfilled the new criteria for MASLD. A small proportion of patients with NAFLD (n = 80, 3.2%) did not meet the MASLD criteria. Additionally, 168 patients (6.6%) were newly added to the MASLD group. The areas under the receiver operating characteristic curves for diagnosing advanced hepatic fibrosis for FIB-4 (0.824 in NAFLD vs. 0.818 in MASLD, p = 0.891) and NFS (0.803 in NAFLD vs. 0.781 in MASLD, p = 0.618) were comparable between the MASLD and NAFLD groups. Furthermore, the sensitivity, specificity, positive predictive value, and negative predictive value of FIB-4 and NFS for advanced fibrosis in MASLD were also comparable to those in NAFLD. CONCLUSIONS: Most patients (96.8%) previously diagnosed with NAFLD fulfilled the new criteria for MASLD in an Asian primary clinic cohort. Diagnostic performance of FIB-4 in the MASLD cohort demonstrated satisfactory results.

5.
Harm Reduct J ; 21(1): 99, 2024 May 22.
Artigo em Inglês | MEDLINE | ID: mdl-38773514

RESUMO

INTRODUCTION: The rapid increase in e-cigarette use over the past decade has triggered an important public health question on the potential association between e-cigarette use and combustible cigarette smoking. Following AMSTAR 2 and PRISMA guidelines, this evidence synthesis sought to identify and characterize any associations between e-cigarette use among individuals not smoking cigarettes and initiation of cigarette smoking. METHODS: The protocol was registered on September 24, 2018 (PROSPERO 2018 CRD42018108540). Three databases were queried from January 01, 2007 to April 26, 2023. Search results were screened using the PICOS review method. RESULTS: Among 55 included studies (40 "good" and 15 "fair"; evidence grade: "high") that adjusted for gender, age, and race/ethnicity between groups, generally, there was a significant association between non-regular e-cigarette use and initiation of cigarette smoking, further supported by the meta-analytic results (AOR 3.71; 95% CI 2.86-4.81). However, smoking initiation was most often measured as ever/current cigarette smoking. Two studies (quality: 2 "good") evaluated progression to regular cigarette smoking among individuals with regular use of e-cigarettes, and generally found no significant associations. One study ("good") evaluated smoking initiation among individuals with regular use of e-cigarettes, finding an increasing probability of ever smoking cigarettes with increased e-cigarette use. Twelve studies (10 "good" and two "fair") examining progression to regular smoking among individuals with non-regular use of e-cigarettes reported inconsistent findings. CONCLUSIONS: Numerous methodological flaws in the body of literature limit the generalizability of these results to all individuals who are not smoking cigarettes with few studies measuring established/regular use/smoking of e-cigarettes and cigarettes. Further, studies did not control adequately for specific confounding variables representing common liabilities between e-cigarette use and cigarette smoking, nor did they account for sufficient follow-up durations. Collectively, these flaws limit the generalizability of findings to the question of an association between e-cigarette use and cigarette smoking initiation.


Assuntos
Fumar Cigarros , Vaping , Humanos , Fumar Cigarros/epidemiologia , Sistemas Eletrônicos de Liberação de Nicotina/estatística & dados numéricos , não Fumantes/estatística & dados numéricos , Vaping/epidemiologia
6.
Ann Plast Surg ; 92(4S Suppl 2): S132-S135, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38556661

RESUMO

INTRODUCTION: Vascular malformations (VMs) typically appear at birth and grow commensurately with patients. They can vary broadly in vessel type and tissue involvement, and upper extremity (UE) VMs can pose unique functional and aesthetic challenges in children. Given the advent of operative and nonoperative technologies like sclerotherapy and medications, a contemporary review of the surgical management of UE VMs is warranted. METHODS: We performed a retrospective review of all patients who had surgical management of VMs from 2010 to 2021 at The Children's Hospital of Philadelphia. Demographics, lesion characteristics, treatment (including preceding nonsurgical therapies), complications, and final outcomes were recorded. Operative notes were reviewed for date of operation, depth of excision, type of closure, and current procedural terminology code. RESULTS: Sixty-seven patients with 88 procedures were studied. Average patient age was 5.8 years, with 64% White and 67% male. Venous (34%) and lymphatic (19%) malformations were most common, and anatomic locations were most frequently on the hand (33%) and forearm (25%). The average lesion diameter was 4.2 cm, although this varied by location (eg, 2.9 cm, hand; 11.1 cm, chest wall). Fifty-eight patients (87%) underwent surgical excision as their index procedure, and 9 had sclerotherapy before surgery. Thirty-nine patients (60%) had subcutaneous excisions, and the remainder required subfascial or intramuscular excisions. Nearly all excisions were closed primarily (97%). Of the 53 patients with documented follow-up, 32 patients (60%) had complete resolution of their lesion as of their final visit. Thirty of these 32 patients with no clinical evidence of residual VM had only 1 surgery for excision. CONCLUSION: Upper extremity VMs were composed of diverse conditions with varying vessel types, size, depth, and anatomic sites. Surgical excision of VMs of the UE was safe and effective. A majority of VMs were fully excised after 1 procedure and frequently closed primarily with relatively low complication rates. Future work should investigate decision-making and outcomes of all treatment options of VMs of the UE for optimal functionality and aesthetics.


Assuntos
Malformações Vasculares , Veias , Criança , Recém-Nascido , Humanos , Masculino , Pré-Escolar , Feminino , Estudos Retrospectivos , Veias/cirurgia , Malformações Vasculares/cirurgia , Escleroterapia/métodos , Mãos , Resultado do Tratamento
7.
Sci Rep ; 14(1): 7718, 2024 04 02.
Artigo em Inglês | MEDLINE | ID: mdl-38565556

RESUMO

We aimed to examine the relationship between abdominal computed tomography (CT)-based body composition data and both renal function decline and all-cause mortality in patients with non-dialysis chronic kidney disease (CKD). This retrospective study comprised non-dialysis CKD patients who underwent consecutive unenhanced abdominal CT between January 2010 and December 2011. CT-based body composition was measured using semiautomated method that included visceral fat, subcutaneous fat, skeletal muscle area and density, and abdominal aortic calcium score (AAS). Sarcopenia and myosteatosis were defined by decreased skeletal muscle index (SMI) and decreased skeletal muscle density, respectively, each with specific cutoffs. Risk factors for CKD progression and survival were identified using logistic regression and Cox proportional hazard regression models. Survival between groups based on myosteatosis and AAS was compared using the Kaplan-Meier curve. 149 patients (median age: 70 years) were included; 79 (53.0%) patients had sarcopenia and 112 (75.2%) had myosteatosis. The median AAS was 560.9 (interquartile range: 55.7-1478.3)/m2. The prognostic factors for CKD progression were myosteatosis [odds ratio (OR) = 4.31, p = 0.013] and high AAS (OR = 1.03, p = 0.001). Skeletal muscle density [hazard ratio (HR) = 0.93, p = 0.004] or myosteatosis (HR = 4.87, p = 0.032) and high AAS (HR = 1.02, p = 0.001) were independent factors for poor survival outcomes. The presence of myosteatosis and the high burden of aortic calcium were significant factors for CKD progression and survival in patients with non-dialysis CKD.


Assuntos
Insuficiência Renal Crônica , Sarcopenia , Humanos , Idoso , Sarcopenia/diagnóstico por imagem , Sarcopenia/etiologia , Sarcopenia/patologia , Cálcio , Prognóstico , Estudos Retrospectivos , Músculo Esquelético/patologia , Tomografia Computadorizada por Raios X , Insuficiência Renal Crônica/complicações , Insuficiência Renal Crônica/diagnóstico por imagem , Insuficiência Renal Crônica/patologia
8.
Sci Rep ; 14(1): 7189, 2024 03 26.
Artigo em Inglês | MEDLINE | ID: mdl-38531925

RESUMO

Our study aimed to conduct a comparative evaluation of various noninvasive tests (NITs) for risk stratification in at-risk population for non-alcoholic fatty liver disease (NAFLD), focusing on cardiovascular and liver-related mortality. A total of 21,715 adults aged 40 years and older were enrolled at baseline. The mean follow-up period was 12.39 years. Three types of NITs (fibrosis-4 index [FIB-4], NAFLD fibrosis score [NFS], and steatosis-associated fibrosis estimator [SAFE] score) were used. When using the low cut-off as a 'rule-out' strategy, there were no significant differences in cardiovascular mortality between the 'rule-out' (low-risk) group and the 'rule-in' (intermediate- or high-risk) group based on FIB-4 (aHR = 1.029, P = 0.845) or NFS (aHR = 0.839, P = 0.271) classification. However, the SAFE score exhibited higher sensitivity in predicting cardiovascular mortality compared to FIB-4 or NFS (73.3% in SAFE score vs. 29.6% in FIB-4 or 21.3% in NFS). Only the SAFE score could effectively differentiate the risk between low- and intermediate- or high-risk groups for all types of mortality (all P values for aHR < 0.001). The low cutoff value of the SAFE score discriminated not only liver-related mortality but also identified the cardiovascular high-risk group in the community cohort.


Assuntos
Doenças Cardiovasculares , Hepatopatia Gordurosa não Alcoólica , Adulto , Humanos , Pessoa de Meia-Idade , Hepatopatia Gordurosa não Alcoólica/complicações , Causas de Morte , Cirrose Hepática/etiologia , Índice de Gravidade de Doença , Biópsia/efeitos adversos , Medição de Risco , Doenças Cardiovasculares/complicações , Fibrose
9.
Arthritis Res Ther ; 26(1): 54, 2024 02 20.
Artigo em Inglês | MEDLINE | ID: mdl-38378664

RESUMO

BACKGROUND: Leveraging the Accelerating Medicines Partnership (AMP) Lupus Nephritis (LN) dataset, we evaluated longitudinal patterns, rates, and predictors of response to standard-of-care therapy in patients with lupus nephritis. METHODS: Patients from US academic medical centers with class III, IV, and/or V LN and a baseline urine protein/creatinine (UPCR) ratio ≥ 1.0 (n = 180) were eligible for this analysis. Complete response (CR) required the following: (1) UPCR < 0.5; (2) normal serum creatinine (≤ 1.3 mg/dL) or, if abnormal, ≤ 125% of baseline; and (3) prednisone ≤ 10 mg/day. Partial response (PR) required the following: (1) > 50% reduction in UPCR; (2) normal serum creatinine or, if abnormal, ≤ 125% of baseline; and (3) prednisone dose ≤ 15 mg/day. RESULTS: Response rates to the standard of care at week 52 were CR = 22.2%; PR = 21.7%; non-responder (NR) = 41.7%, and not determined (ND) = 14.4%. Only 8/180 (4.4%) patients had a week 12 CR sustained through week 52. Eighteen (10%) patients attained a week 12 PR or CR and sustained their responses through week 52 and 47 (26.1%) patients achieved sustained PR or CR at weeks 26 and 52. Week 52 CR or PR attainment was associated with baseline UPCR > 3 (ORadj = 3.71 [95%CI = 1.34-10.24]; p = 0.012), > 25% decrease in UPCR from baseline to week 12 (ORadj = 2.61 [95%CI = 1.07-6.41]; p = 0.036), lower chronicity index (ORadj = 1.33 per unit decrease [95%CI = 1.10-1.62]; p = 0.003), and positive anti-dsDNA antibody (ORadj = 2.61 [95%CI = 0.93-7.33]; p = 0.069). CONCLUSIONS: CR and PR rates at week 52 were consistent with the standard-of-care response rates observed in prospective registrational LN trials. Low sustained response rates underscore the need for more efficacious therapies and highlight how critically important it is to understand the molecular pathways associated with response and non-response.


Assuntos
Nefrite Lúpica , Humanos , Nefrite Lúpica/tratamento farmacológico , Imunossupressores/uso terapêutico , Estudos Prospectivos , Creatinina , Prednisona/uso terapêutico , Resultado do Tratamento , Indução de Remissão , Estudos Retrospectivos , Rim
10.
J Korean Soc Radiol ; 85(1): 217-221, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38362382

RESUMO

Retroperitoneal ectopic pregnancy is a rare form of ectopic pregnancy. Owing to its rarity and nonspecific symptoms, diagnosing retroperitoneal ectopic pregnancy at the initial presentation poses a significant challenge. Typically, the diagnosis relies on non-radiation imaging modalities, such as ultrasonography and MRI, whereas CT is infrequently used. Herein, we report a rare case of a retroperitoneal ectopic pregnancy, which was diagnosed using CT.

11.
Horm Res Paediatr ; 2024 Feb 19.
Artigo em Inglês | MEDLINE | ID: mdl-38373413

RESUMO

INTRODUCTION: Patients with classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency exhibit an increased prevalence of obesity from childhood including central adiposity and inflammation. There is also an emerging affected brain phenotype in CAH, with decreased cortico-limbic gray matter volumes and white matter abnormalities. We aimed to study the relationship between brain structure, obesity, and inflammation in children and adolescents with CAH compared to controls. METHODS: 27 CAH (12.6±3.4y, 16 females) and 35 controls (13.0±2.8y, 20 females) had MRI of gray matter regions of interest [prefrontal cortex (PFC), amygdala, hippocampus] and white matter microstructure [fornix, stria terminalis (ST)]. Anthropometric measures and lab analytes were obtained. Relaimpo analyses (relative importance for linear regression; percent variance) identified which brain structures were most different between groups. Subsequent regressions further quantified the magnitude and direction of these relationships. Correlations analyzed relationships between brain structure, obesity, and inflammation in the context of CAH status. RESULTS: PFC (13.3% variance) and its superior frontal (SF) subregion (14%) were most different between CAH and controls for gray matter; ST (16%) for white matter. Patients with CAH had lower caudal middle frontal [ß = -0.56, (-0.96, -0.15)] and superior frontal [ß = -0.58 (-0.92, -0.25)] subregion volumes, increased orientation dispersion index in the fornix [ß = 0.56 (0.01, 1.10)] and ST [ß = 0.85 (0.34, 1.36)], and decreased fractional anisotropy in the fornix [ß = -0.91 (-1.42, -0.42)] and ST [ß = -0.83 (-1.34, -0.33)] (all p's <0.05) indicating axonal disorganization, reduced myelin content, and/or higher microglial density within the affected white matter tracts. For the full cohort, SF was correlated with MCP-1 (r=-0.41), visceral adipose tissue (r=-0.25), and waist-to-height ratio (r=-0.27, all p's <0.05); ST was correlated with MCP-1 (r=0.31) and TNF-α (r= 0.29, all p's <0.05); however, after adjusting for CAH status, almost all correlations were attenuated for significance. CONCLUSIONS: Relationships among key brain structures, body composition and inflammatory markers in pediatric patients with CAH could be largely driven by having CAH, with implications for obesity and neuroinflammation in this high-risk population.

12.
Liver Int ; 44(4): 944-954, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38291809

RESUMO

BACKGROUND & AIMS: The cost-effectiveness to screen hepatic fibrosis in at-risk population as recommended by several professional societies has been limited. This study aimed to investigate the cost-effectiveness of this screening strategy in the expanded at-risk population recently proposed by several societies. METHODS: A combined model of the decision tree and Markov models was developed to compare expected costs, quality-adjusted life-years (QALYs) and incremental cost-effectiveness ratio (ICER) between screening and no screening groups. The model included liver disease-related health states and cardiovascular disease (CVD) states as a base-case analysis. Screening strategy consisted of fibrosis-4 index (FIB-4) followed by vibration-controlled transient elastography (VCTE) and intensive lifestyle intervention (ILI) as a treatment for diagnosed patients. RESULTS: Cost-effectiveness analysis showed that screening the at-risk population entailed $298 incremental costs and an additional 0.0199 QALY per patient compared to no screening (ICER $14 949/QALY). Screening was cost-effective based on the implicit ICER threshold of $25 000/QALY in Korea. When the effects of ILI on CVD and extrahepatic malignancy were incorporated into the cost-effectiveness model, the ICER decreased by 0.85 times from the base-case analysis (ICER $12 749/QALY). In contrast, when only the effects of liver disease were considered in the model, excluding cardiovascular disease effects, ICER increased from the baseline case analysis to $16 305. Even when replacing with medical costs in Japan and U.S., it remained cost-effective with the estimate below the countries' ICER threshold. CONCLUSIONS: Our study provides compelling evidence supporting the cost-effectiveness of FIB-4-based screening the at-risk population for advanced hepatic fibrosis.


Assuntos
Doenças Cardiovasculares , Técnicas de Imagem por Elasticidade , Hepatopatia Gordurosa não Alcoólica , Humanos , Hepatopatia Gordurosa não Alcoólica/complicações , Hepatopatia Gordurosa não Alcoólica/diagnóstico por imagem , Hepatopatia Gordurosa não Alcoólica/terapia , Análise Custo-Benefício , Análise de Custo-Efetividade , Cirrose Hepática/diagnóstico por imagem
13.
Pediatr Rev ; 45(2): 74-84, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-38296783

RESUMO

We describe congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, which is the most common primary adrenal insufficiency in children and adolescents. In this comprehensive review of CAH, we describe presentations at different life stages depending on disease severity. CAH is characterized by androgen excess secondary to impaired steroidogenesis in the adrenal glands. Diagnosis of CAH is most common during infancy with elevated 17-hydroxyprogesterone levels on the newborn screen in the United States. However, CAH can also present in childhood, with late-onset symptoms such as premature adrenarche, growth acceleration, hirsutism, and irregular menses. The growing child with CAH is treated with hydrocortisone for glucocorticoid replacement, along with increased stress doses for acute illness, trauma, and procedures. Mineralocorticoid and salt replacement may also be necessary. Although 21-hydroxylase deficiency is the most common type of CAH, there are other rare types, such as 11ß-hydroxylase and 3ß-hydroxysteroid dehydrogenase deficiency. In addition, classic CAH is associated with long-term comorbidities, including cardiometabolic risk factors, impaired cognitive function, adrenal rest tumors, and bone health effects. Overall, early identification and treatment of CAH is important for the pediatric patient.


Assuntos
Hiperplasia Suprarrenal Congênita , Puberdade Precoce , Recém-Nascido , Adolescente , Criança , Humanos , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/terapia , Glucocorticoides/uso terapêutico , Hidrocortisona/uso terapêutico , Puberdade Precoce/complicações
14.
Gut Liver ; 18(2): 316-327, 2024 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-37560798

RESUMO

Background/Aims: The pathophysiology of lean nonalcoholic fatty liver disease (NAFLD) is unclear but has been shown to be associated with more diverse pathogenic mechanisms than that of obese NAFLD. We investigated the characteristics of genetic or metabolic lean NAFLD in a health checkup cohort. Methods: This retrospective cross-sectional study analyzed single nucleotide polymorphism data for 6,939 health examinees. Lean individuals were categorized according to a body mass index cutoff of 23 kg/m2. Single nucleotide polymorphisms were analyzed using genotyping arrays. Results: The prevalence of lean NAFLD was 21.6% among all participants with NAFLD, and the proportion of lean NAFLD was 18.5% among lean participants. The prevalence of metabolic syndrome and diabetes among lean patients with NAFLD was 12.4% and 10.4%, respectively. Lean NAFLD appeared to be metabolic-associated in approximately 20.1% of patients. The homozygous minor allele (GG) of PNPLA3 (rs738409) and heterozygous minor alleles (CT, TT) of TM6SF2 (rs58542926) were associated with lean NAFLD. However, the prevalence of fatty liver was not associated with the genetic variants MBOAT7 (rs641738), HSD17B13 (rs72613567), MARC1 (rs2642438), or AGXT2 (rs2291702) in lean individuals. Lean NAFLD appeared to be associated with PNPLA3 or TM6SF2 genetic variation in approximately 32.1% of cases. Multivariate risk factor analysis showed that metabolic risk factors, genetic risk variants, and waist circumference were independent risk factors for lean NAFLD. Conclusions: In a considerable number of patients, lean NAFLD did not appear to be associated with known genetic or metabolic risk factors. Further studies are required to investigate additional risk factors and gain a more comprehensive understanding of lean NAFLD.


Assuntos
Hepatopatia Gordurosa não Alcoólica , Humanos , Hepatopatia Gordurosa não Alcoólica/epidemiologia , Hepatopatia Gordurosa não Alcoólica/genética , Hepatopatia Gordurosa não Alcoólica/complicações , Estudos Retrospectivos , Estudos Transversais , Fatores de Risco , República da Coreia/epidemiologia , Polimorfismo de Nucleotídeo Único , Predisposição Genética para Doença , Fígado/patologia , Genótipo
15.
J Biopharm Stat ; 34(2): 222-239, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37042702

RESUMO

In non-inferiority (NI) trials with time-to-event data, different types and patterns of censoring may occur, but their impact on trial results is not entirely clear. We investigated the influence of informative and non-informative censoring by conducting extensive simulation studies under the assumption that the NI margin is defined as a maximum acceptable hazard ratio and scenarios typically observed in recent NI trials. We found that while non-informative censoring tends to only affect the power, informative censoring can impact the treatment effect estimates, type I error rate, and power. The magnitude of these effects depends on the between-group differences in the failure and informative censoring risks, as well as the correlation between censoring and failure times, among other factors. The adverse impact of informative censoring was generally decreased with larger NI margins.


Assuntos
Modelos de Riscos Proporcionais , Humanos , Simulação por Computador , Estudos de Equivalência como Asunto
17.
Resusc Plus ; 17: 100512, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38076388

RESUMO

Guidelines for the management of in-hospital cardiac arrest resuscitation are often drawn from evidence generated in out-of-hospital cardiac arrest populations and applied to the in-hospital setting. Approach to airway management during resuscitation is one example of this phenomenon, with the recommendation to place either a supraglottic airway or endotracheal tube when performing advanced airway management during in-hospital cardiac arrest based mainly in clinical trials conducted in the out-of-hospital setting. The Hospital Airway Resuscitation Trial (HART) is a pragmatic cluster-randomized superiority trial comparing a strategy of first choice supraglottic airway to a strategy of first choice endotracheal intubation during resuscitation from in-hospital cardiac arrest. The design includes a number of innovative elements such as a highly pragmatic design drawing from electronic health records and a novel primary outcome measure for cardiac arrest trials-alive-and-ventilator free days. Many of the topics explored in the design of HART have wide relevance to other trials in in-hospital cardiac arrest populations.

18.
Hepatology ; 79(6): 1393-1400, 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38100294

RESUMO

BACKGROUND AND AIM: In relation to the new umbrella terminology for steatotic liver disease (SLD), we aimed to elucidate the prevalence, distribution, and clinical characteristics of the SLD subgroups in the primary care setting. APPROACH AND RESULTS: We retrospectively collected data from 2535 individuals who underwent magnetic resonance elastography and MRI proton density fat fraction during health checkups in 5 primary care health promotion clinics. We evaluated the presence of cardiometabolic risk factors according to predefined criteria and divided all the participants according to the new SLD classification. The prevalence of SLD was 39.13% in the total cohort, and 95.77% of the SLD cases had metabolic dysfunction (one or more cardiometabolic risk factors). The prevalence of metabolic dysfunction-associated steatotic liver disease (MASLD) was 29.51%, with those of metabolic dysfunction and alcohol associated steatotic liver disease (MetALD) and alcohol-associated liver disease (ALD) at 7.89% and 0.39%, respectively. According to the old criteria, the prevalence of NAFLD was 29.11%, and 95.80% of the NAFLD cases fulfilled the new criteria for MASLD. The distribution of SLD subtypes was highest for MASLD, at 75.40%, followed by MetALD at 20.06%, cryptogenic SLD at 3.33%, and ALD at 1.01%. The MetALD group had a significantly higher mean magnetic resonance elastography than the MASLD or ALD group. CONCLUSION: Almost all the patients with NAFLD met the new criteria for MASLD. The fibrosis burden of the MetALD group was higher than those of the MASLD and ALD groups.


Assuntos
Fígado Gorduroso , Cirrose Hepática , Atenção Primária à Saúde , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Prevalência , Estudos Retrospectivos , Cirrose Hepática/epidemiologia , Cirrose Hepática/patologia , Adulto , Fígado Gorduroso/epidemiologia , Fígado Gorduroso/patologia , Fígado Gorduroso/diagnóstico por imagem , Imageamento por Ressonância Magnética , Hepatopatia Gordurosa não Alcoólica/epidemiologia , Hepatopatia Gordurosa não Alcoólica/patologia , Hepatopatia Gordurosa não Alcoólica/diagnóstico por imagem , Idoso , Técnicas de Imagem por Elasticidade
19.
Pediatr Rev ; 45(1): 14-25, 2024 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-38161162

RESUMO

We describe a 15-year-old boy who presented with low back pain due to vertebral compression fractures, growth deceleration, excessive weight gain, rounded facies, dorsocervical fat pad, and hypertension. He was diagnosed as having Cushing syndrome (CS) due to primary pigmented nodular adrenocortical disease resulting in excess cortisol produced by the adrenal glands, leading to disruption of the hypothalamic-pituitary-adrenal axis. The most common cause of CS is exogenous glucocorticoids, with endogenous causes being extremely rare, often leading to delay in diagnosis or misdiagnosis. Herein, we review clinical presentation, screening for hypercortisolism, and decision-making in the diagnosis of CS, as well as therapeutic approaches. The wide range of clinical presentations in pediatric CS and the rarity of the condition can lead to difficulty in the recognition, diagnosis, and subsequent management of these patients. CS can be difficult to differentiate from more common exogenous obesity, and outpatient screening of cortisol excess is challenging. Early recognition and treatment of CS is necessary to avoid multisystemic complications, and patients with suspected endogenous CS should be referred to a tertiary care center with experienced pediatric endocrinology and surgery specialists. Further confirmatory diagnostic tests are necessary to distinguish corticotropin-independent from corticotropin-dependent forms of CS, including a high-dose dexamethasone suppression test, a corticotropin-releasing hormone stimulation test, and imaging. There can be challenges to the evaluation of CS, including complex inpatient testing and difficulty with localization on imaging. Long-term sequelae of CS, including adrenal insufficiency, obesity, hypertension, and mental health disorders, may remain despite definitive surgical treatment, meriting close follow-up with the primary care clinician and subspecialists.


Assuntos
Síndrome de Cushing , Fraturas por Compressão , Hipertensão , Fraturas da Coluna Vertebral , Adolescente , Humanos , Masculino , Hormônio Adrenocorticotrópico , Síndrome de Cushing/diagnóstico , Síndrome de Cushing/etiologia , Síndrome de Cushing/terapia , Fraturas por Compressão/complicações , Hidrocortisona , Sistema Hipotálamo-Hipofisário/metabolismo , Obesidade/complicações , Sistema Hipófise-Suprarrenal/metabolismo , Fraturas da Coluna Vertebral/complicações
20.
Artigo em Inglês | MEDLINE | ID: mdl-38127322

RESUMO

BACKGROUND: Mixed lipid emulsion (MLE), most commonly soybean, medium chain triglycerides, olive, and fish oils (SMOF), has replaced soybean-based lipid emulsions in many neonatal intensive care units. Only a few studies report the triglyceride (TG) trajectory in neonates receiving MLE. We designed a study to compare TG levels in neonates receiving MLE stratified by gestational age (GA), birth weight (BW), and growth restriction status. METHODS: We included neonates born at <32 weeks GA or with BW <1500 gm. SMOF is started on admission, and plasma TG levels are measured 24 hours after 2 gm/kg/day and 24 hours after 3 gm/kg/day. TG levels were compared across groups defined by GA (<28 weeks vs. 328 weeks), BW (<1000 gm vs. 31000 gm), and small for GA (SGA) vs. appropriate plus large for GA groups using the Wilcoxon rank sum test. RESULTS: From 2018 to 2021, 427 infants met the inclusion criteria. TG levels were significantly higher in neonates with GA <28 weeks, BW <1000 grams, and SGA with a notable broad distribution of TG levels. Logistic regression analysis confirmed SGA and BW as significant independent predictors of hypertriglyceridemia after SMOF at 2 gm/kg/day and 3 gm/kg/day, respectively. CONCLUSIONS: The study emphasizes the importance of TG monitoring for neonates with GA <28 weeks, BW <1000 grams, and SGA. Conversely, it is advisable to individualize TG monitoring for infants with GA>28 weeks, BW>1000 grams, and non-SGA status. Prospective studies with larger sample sizes are warranted to validate our findings.

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