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1.
Artigo em Inglês | MEDLINE | ID: mdl-34639293

RESUMO

Insufficient research exists for position change intervals to eradicate pressure ulcers. We tried to provide evidence for the position change interval by comparing peak pressure, risk area ratio, and the time to reach 30 mmHg and 60 mmHg, and presented this in detail, according to the angle in the three positions. The study conducted RCTs on a total of 64 healthy adults. For two hours, interface pressure measurements were compared with 30° and 90° tilting at the inclined, 0° and 45° head-of-bed (HOB) elevation at the supine, and 30° and 45° HOB elevation at the Fowler's position. The peak pressure on 30° tilting remained less than 60 mmHg for 2 h, unlike 90° tilting. To reach 60 mmHg took 78.18 min at 30° tilting, within 30 min at the 30° supine, 30° and 45° at the Fowler's position, and 39.55 min at 0° supine. The pressure difference according to the angles was only significant at 30° and 90° tilting, with no difference in the other groups. To prevent pressure ulcers, position changes are required every 2 h in the 30° tilting position, every 1.5 to 2 h at 0° supine, and at least every 1.5 h for all the other positions.

3.
Pain Med ; 2021 Aug 13.
Artigo em Inglês | MEDLINE | ID: mdl-34625814

RESUMO

OBJECTIVE: To verify the articular branch contributions in the human knee, delineate their anatomical variance, and outline the limitations of currently applied procedure protocols for denervation of the knee joint. DESIGN: A detailed anatomical dissection. SETTING: Cadavers in residence at the Albert Einstein College of Medicine. SUBJECTS: In total, 24 lower extremity specimens from 14 embalmed cadavers. METHODS: Human cadaveric dissections were performed on 24 lower extremities from 14 embalmed cadavers. RESULTS: This cadaveric study has demonstrated that the anterior knee receives sensory innervations from SMGN, SLGN, LRN, NVI, NVL, RFN, and IMGN. The courses of SMGN, SLGN, RFN, and IMGN are similar to recent anatomical studies. However, discrepancies exist in their relative anatomy to bony and radiographic landmarks. CONCLUSIONS: Genicular denervation using classical anatomical landmarks may not be sufficient to treat the anterior knee joint pain. Our findings illustrate more accurate anatomic landmarks for the three-target paradigm and support additional targets for more complete genicular denervation. This cadaveric study provides robust anatomical findings that can provide a foundation for new anatomical landmarks and targets to improve genicular denervation outcomes.

4.
Clin Transl Allergy ; 11(8): e12069, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34667591

RESUMO

Background: The upper-airway microbiota may be associated with the pathogenesis of asthma and useful for predicting acute exacerbation. However, the relationship between the lower-airway microbiota and acute exacerbation in children with asthma is not well understood. We evaluated the characteristics of the airway microbiome using induced sputum from children with asthma exacerbation and compared the microbiota-related differences of inflammatory cytokines with those in children with asthma. Methods: We analysed the microbiome using induced sputum during acute exacerbation of asthma in children. We identified microbial candidates that were prominent in children with asthma exacerbation and compared them with those in children with stable asthma using various analytical methods. The microbial candidates were analysed to determine their association with inflammatory cytokines. We also developed a predictive functional profile using PICRUSt. Results: A total of 95 children with allergic sensitisation including 22 with asthma exacerbation, 67 with stable asthma, and 6 controls were evaluated. We selected 26 microbial candidates whose abundances were significantly increased, decreased, or correlated during acute exacerbation in children with asthma. Among the microbial candidates, Campylobacter, Capnocytophaga, Haemophilus, and Porphyromonas were associated with inflammatory cytokines including macrophage inflammatory protein (MIP)-1ß, programmed death-ligand 1, and granzyme B. Both Campylobacter and MIP-1ß levels were correlated with sputum eosinophils. Increased lipopolysaccharide biosynthesis and decreased glycan degradation were observed in children with asthma exacerbation. Conclusion: Gram-negative microbes in the lower airway were related to acute exacerbation in children with asthma. These microbes and associated cytokines may play a role in exacerbating asthma in children.

5.
Endocrinol Metab (Seoul) ; 36(4): 823-834, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34474517

RESUMO

BACKGROUND: Nonalcoholic fatty liver disease (NAFLD) is the most prevalent cause of chronic liver disease worldwide. Type 2 diabetes mellitus (T2DM) is a risk factor that accelerates NAFLD progression, leading to fibrosis and cirrhosis. Thus, here we aimed to develop a simple model to predict the presence of NAFLD based on clinical parameters of patients with T2DM. METHODS: A total of 698 patients with T2DM who visited five medical centers were included. NAFLD was evaluated using transient elastography. Univariate logistic regression analyses were performed to identify potential contributors to NAFLD, followed by multivariable logistic regression analyses to create the final prediction model for NAFLD. RESULTS: Two NAFLD prediction models were developed, with and without serum biomarker use. The non-laboratory model comprised six variables: age, sex, waist circumference, body mass index (BMI), dyslipidemia, and smoking status. For a cutoff value of ≥60, the prediction accuracy was 0.780 (95% confidence interval [CI], 0.743 to 0.817). The second comprehensive model showed an improved discrimination ability of up to 0.815 (95% CI, 0.782 to 0.847) and comprised seven variables: age, sex, waist circumference, BMI, glycated hemoglobin, triglyceride, and alanine aminotransferase to aspartate aminotransferase ratio. Our non-laboratory model showed non-inferiority in the prediction of NAFLD versus previously established models, including serum parameters. CONCLUSION: The new models are simple and user-friendly screening methods that can identify individuals with T2DM who are at high-risk for NAFLD. Additional studies are warranted to validate these new models as useful predictive tools for NAFLD in clinical practice.

6.
Psychiatry Res Neuroimaging ; 317: 111381, 2021 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-34508954

RESUMO

OBJECTIVE: To investigate the association of the APOE ε4 genotype with hippocampal volume, independent of Aß burden. METHOD: This cross-sectional study included 71 participants with mild cognitive impairment or mild AD. All participants were divided into carriers or non-carriers of the ε4 allele. The main outcome was hippocampal volume measured using structural magnetic resonance imaging; 18F-florbetaben positron emission tomography was additionally performed to investigate the association of APOE ε4 genotype with hippocampal volumes, independently of Aß burden. Analysis of covariance was conducted to compare the differences in hippocampal volumes between carriers and non-carriers of the ε4 allele after controlling for global Aß burden or local hippocampal Aß burden. RESULTS: The APOE ε4 genotype was associated with a smaller right and total hippocampal volume (right: 3160.16 ± 365.71 vs. 3365.24 ± 434.88, p < 0.05; total: 6257.48 ± 790.60 vs. 6599.52 ± 840.58, p < 0.05), independent of Aß burden. CONCLUSION: Our findings on the association of APOEε4 genotype with hippocampal volume independent of Aß burden suggest that the APOEε4 genotype may contribute to hippocampal neurodegeneration through an Aß-independent mechanism.

7.
Ann Neurol ; 90(5): 738-750, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34564892

RESUMO

OBJECTIVE: Hereditary spastic paraplegia (HSP) is a highly heterogeneous neurologic disorder characterized by lower-extremity spasticity. Here, we set out to determine the genetic basis of an autosomal dominant, pure, and infantile-onset form of HSP in a cohort of 8 patients with a uniform clinical presentation. METHODS: Trio whole-exome sequencing was used in 5 index patients with infantile-onset pure HSP to determine the genetic cause of disease. The functional impact of identified genetic variants was verified using bioinformatics and complementary cellular and biochemical assays. RESULTS: Distinct heterozygous KPNA3 missense variants were found to segregate with the clinical phenotype in 8 patients; in 4 of them KPNA3 variants had occurred de novo. Mutant karyopherin-α3 proteins exhibited a variable pattern of altered expression level, subcellular distribution, and protein interaction. INTERPRETATION: Our genetic findings implicate heterozygous variants in KPNA3 as a novel cause for autosomal dominant, early-onset, and pure HSP. Mutant karyopherin-α3 proteins display varying deficits in molecular and cellular functions, thus, for the first time, implicating dysfunctional nucleocytoplasmic shuttling as a novel pathomechanism causing HSP. ANN NEUROL 2021;90:738-750.

8.
Spine (Phila Pa 1976) ; 46(16): E888-E892, 2021 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-34398136

RESUMO

STUDY DESIGN: Cross-sectional observational cohort study. OBJECTIVE: The aim of this study was to determine the incidence and risk factors associated with the development of sacroiliac joint (SIJ) dysfunction following lumbosacral fusion. SUMMARY OF BACKGROUND DATA: Adjacent segment degeneration to both proximal and distal areas of spinal fusion is a postoperative complication of lumbar fusion. Various studies examined supra-adjacent degeneration following lumbar fusion, but few focused on infra-adjacent degeneration. In lumbosacral fusion, fusion extends to the sacrum, placing increased stress on the SIJ. METHODS: A total of 2069 sequential patients who underwent lumbosacral fusion surgery from 2008 to 2018 at a single academic medical center were retrospectively reviewed. Patients who subsequently developed SIJ dysfunction were identified. SIJ dysfunction was defined as patients who met the diagnostic criteria with physical examination and received an SIJ injection with clinical evidence of improvement. Controls, without subsequent SIJ dysfunction, were matched with cases based on levels of fusion, age, sex, and body mass index. Pre-and postoperative pelvic parameters were measured, including pelvic incidence, pelvic tilt (PT), sacral slope, lumbar lordosis, lumbosacral angle, L4 incidence and L5 incidence. RESULTS: Of 2069 patients who underwent lumbosacral fusion, 81 patients (3.9%) met criteria for SIJ dysfunction. Measurements were made for 47 of 81 patients who had SIJ dysfunction, that had both pre- and post-operative imaging. Measurements for 44 matched controls were taken. Postoperative PT was significantly lower in SIJ dysfunction patients compared to controls (20.82°â€Š±â€Š2.19° vs. 27.28°â€Š±â€Š2.30°; P < 0.05), as was L5 incidence (28.64°â€Š±â€Š3.38° vs. 37.11°â€Š± 3.50°; P < 0.05). CONCLUSION: Incidence of the SIJ dysfunction after lumbosacral fusion surgery was 3.9% and these patients had a significantly lower PT and L5 incidence compared to the control group. Significantly low PT may be derived from weak hamstring muscles, predisposing a patient to SIJ dysfunction. Therefore, hamstring muscle strengthening exercise for patients with decreased PT after lumbosacral fusion may decrease the incidence of SIJ dysfunction.Level of Evidence: 3.


Assuntos
Lordose , Fusão Vertebral , Estudos Transversais , Humanos , Vértebras Lombares/diagnóstico por imagem , Vértebras Lombares/cirurgia , Região Lombossacral/diagnóstico por imagem , Região Lombossacral/cirurgia , Estudos Retrospectivos , Fusão Vertebral/efeitos adversos
9.
Mol Genet Genomic Med ; : e1791, 2021 Aug 24.
Artigo em Inglês | MEDLINE | ID: mdl-34427995

RESUMO

BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a rare congenital malformation syndrome with clinical characteristics such as hypertrichosis, high arched eyebrows, large beaked nose, and broad thumbs and halluces. RSTS patients showed intellectual disability and health problems such as short stature, ophthalmologic abnormalities, congenital heart defects, genitourinary defects, and variable types of tumors. Although mutations in CREBBP and EP300 genes are associated with RSTS features, genetic causation is still unknown in 30% of patients. METHODS: We present clinical and molecular genetic characteristics of 25 unrelated Korean patients clinically diagnosed with RSTS. Sanger sequencing analysis and multiplex ligation-dependent probe amplification for CREBBP in 25 patients and exome sequencing of CREBBP-negative cases were performed in nine patients successively. RESULTS: Causative variants were identified in 20 (80%) patients: 16 (64%) in CREBBP and 4 (16%) in EP300. All the identified variants predict protein truncation (11 frameshift, 2 nonsense, 1 splicing-site, and 6 large intragenic deletions); there are no repeatedly identified sequence variants. Four of the CREBBP and all four EP300 variants are novel. Intellectual disability was noted in 24/25 patients (96%); no difference was found between CREBBP and EP300 groups. One patient with a CREBBP variant (4%) had malignant tumor. CONCLUSIONS: To date, this is the largest cohort of patients with RSTS including EP300-related patients in Korea. Future large-scale studies to find genetic mutation of molecularly unsolved patients and long-term prospective studies are required to validate our results.

11.
Neuromuscul Disord ; 2021 Jul 18.
Artigo em Inglês | MEDLINE | ID: mdl-34454814

RESUMO

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a heterogeneous group of inborn error of metabolic disease affecting the oxidation of fatty acids and amino acids, and choline metabolism. Genes involved in electrons transfer to the mitochondrial respiratory chain typically induce MADD. Recently, FLAD1, which encodes flavin adenine dinucleotide synthase, has also been reported as a cause of MADD. Here, we present a case of a 28-month girl with progressive weakness in facial and bulbar muscle. She has been suffering from feeding difficulty and recurrent respiratory distress. Lipid storage myopathy was evident from muscle biopsy. Furthermore, whole exome sequencing identified homozygous variant of c.745C > T (p.Arg249*) in FLAD1, confirming the diagnosis of FLAD1-related MADD. The patient showed improvements in her symptoms and exhibited catch-up growth following the supplementation of riboflavin. Lipid storage myopathy with FLAD1-related MADD is potentially treatable. Therefore, we should have high clinical suspicion, even though the diagnosis is challenging.

12.
Medicine (Baltimore) ; 100(31): e26823, 2021 Aug 06.
Artigo em Inglês | MEDLINE | ID: mdl-34397844

RESUMO

ABSTRACT: Low specificity and operator dependency are the main problems of breast ultrasound (US) screening. We investigated the added value of deep learning-based computer-aided diagnosis (S-Detect) and shear wave elastography (SWE) to B-mode US for evaluation of breast masses detected by screening US.Between February 2018 and June 2019, B-mode US, S-Detect, and SWE were prospectively obtained for 156 screening US-detected breast masses in 146 women before undergoing US-guided biopsy. S-Detect was applied for the representative B-mode US image, and quantitative elasticity was measured for SWE. Breast Imaging Reporting and Data System final assessment category was assigned for the datasets of B-mode US alone, B-mode US plus S-Detect, and B-mode US plus SWE by 3 radiologists with varied experience in breast imaging. Area under the receiver operator characteristics curve (AUC), sensitivity, and specificity for the 3 datasets were compared using Delong's method and McNemar test.Of 156 masses, 10 (6%) were malignant and 146 (94%) were benign. Compared to B-mode US alone, the addition of S-Detect increased the specificity from 8%-9% to 31%-71% and the AUC from 0.541-0.545 to 0.658-0.803 in all radiologists (All P < .001). The addition of SWE to B-mode US also increased the specificity from 8%-9% to 41%-75% and the AUC from 0.541-0.545 to 0.709-0.823 in all radiologists (All P < .001). There was no significant loss in sensitivity when either S-Detect or SWE were added to B-mode US.Adding S-Detect or SWE to B-mode US improved the specificity and AUC without loss of sensitivity.


Assuntos
Neoplasias da Mama , Mama , Aprendizado Profundo , Diagnóstico por Computador/métodos , Técnicas de Imagem por Elasticidade/métodos , Ultrassonografia Mamária/métodos , Mama/diagnóstico por imagem , Mama/patologia , Neoplasias da Mama/diagnóstico por imagem , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/patologia , Diagnóstico Diferencial , Detecção Precoce de Câncer/métodos , Feminino , Humanos , Interpretação de Imagem Assistida por Computador , Pessoa de Meia-Idade , Estudos Prospectivos , República da Coreia/epidemiologia , Sensibilidade e Especificidade
13.
J Agric Food Chem ; 69(33): 9536-9544, 2021 Aug 25.
Artigo em Inglês | MEDLINE | ID: mdl-34293861

RESUMO

Methiozolin is a novel herbicide used to control annual bluegrass. It has low vapor pressure and high hydrophobicity, which could result in persistence in water and bioaccumulation. We measured the bioconcentration factors (BCFs) of methiozolin in ricefish (Oryzias latipes). Two radiolabels were used to quantify the parent compound and identify its metabolites. Ricefish were exposed to 2.0 and 20.0 ng/L methiozolin for 28 days in the uptake phase with a 96-h LC50 of 2.2 mg/L(95% confidence limit: 2.1-2.5 mg/L) and water solubility of 4.2 mg/L after 48 h was observed. On the basis of total radioactivity residues (TRRs), BCFss and BCFk values of 797.0-851.9 and 992.9-1077.4 were observed, respectively, while BCFss values for methiozolin were 251.9-257.5. Several minor metabolites with TRR < 3.4% were detected. Among them, 4-(2,6-difluorobenzyloxy-methyl)-3-hydroxy-3-methyl-1-(3-methylthiophen-2-yl)butan-1-one, 2,6-difluorobenzyl alcohol, and 4,5-dihydro-5-methyl-3-(3-methylthiophen-2-yl)isoxazol-5-yl)methanol were identified. Methiozolin is metabolized into numerous minor metabolites with potentially low bioaccumulation capacity in ricefish. These findings can facilitate risk assessments regarding methiozolin use, particularly its movements and final stages in aquatic environments.


Assuntos
Herbicidas , Oryzias , Poluentes Químicos da Água , Animais , Bioacumulação , Isoxazóis , Tiofenos
14.
Radiology ; 301(1): 57-65, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34282967

RESUMO

Background Breast density at mammography is an established risk factor for breast cancer, but it cannot be used to distinguish between glandular and fibrous tissue. Purpose To evaluate the association between the glandular tissue component (GTC) at screening breast US and the risk of future breast cancer in women with dense breasts and the association between the GTC and lobular involution. Materials and Methods Screening breast US examinations performed in women with no prior history of breast cancer and with dense breasts with negative findings from mammography from January 2012 to December 2015 were retrospectively identified. The GTC was reported as being minimal, mild, moderate, or marked at the time of the US examination. In women who had benign breast biopsy results, the degree of lobular involution in normal background tissue was categorized as not present, mild, moderate, or complete. The GTC-related breast cancer risk in women with a cancer diagnosis or follow-up after 6 months was estimated by using Cox proportional hazards regression. Cumulative logistic regression was used to evaluate the association between the GTC and lobular involution. Results Among 8483 women (mean age, 49 years ± 8 [standard deviation]), 137 developed breast cancer over a median follow-up time of 5.3 years. Compared with a minimal or mild GTC, a moderate or marked GTC was associated with an increased cancer risk (hazard ratio, 1.5; 95% CI: 1.05, 2.1; P = .03) after adjusting for age and breast density. The GTC had an inverse association with lobular involution; women with no, mild, or moderate involution had greater odds (odds ratios of 4.9 [95% CI: 1.5, 16.6], 2.6 [95% CI: 0.95, 7.2], and 1.8 [95% CI: 0.7, 4.6], respectively) of a moderate or marked GTC than those with complete involution (P = .004). Conclusion The glandular tissue component was independently associated with the future breast cancer risk in women with dense breasts and reflects the lobular involution. It should be considered for risk stratification during screening breast US. © RSNA, 2021 Online supplemental material is available for this article.


Assuntos
Densidade da Mama , Neoplasias da Mama/diagnóstico por imagem , Mamografia/métodos , Ultrassonografia Mamária/métodos , Adulto , Idoso , Mama/diagnóstico por imagem , Feminino , Seguimentos , Humanos , Estudos Longitudinais , Pessoa de Meia-Idade , República da Coreia , Estudos Retrospectivos , Medição de Risco
15.
BMC Cancer ; 21(1): 855, 2021 Jul 26.
Artigo em Inglês | MEDLINE | ID: mdl-34311713

RESUMO

BACKGROUND: Fatigue is one of the most common and burdensome symptoms experienced by cancer patients. In interventions intended to reduce fatigue in such patients, fatigability, or perception of fatigue contextualized to activities of fixed intensity and duration, may also be measured. This study investigated the effects of a 15-month intervention on fatigue and fatigability in breast cancer survivors (BCS); explored the fatigue-fatigability relationship; and evaluated the impacts of fatigue and fatigability on anxiety, depression, sleep disturbance, and endocrine symptoms. METHODS: A randomized controlled trial design was applied to an exercise program called BLESS (Better Life after cancer, Energy, Strength, and Support). The intervention included this 12-week exercise program and four follow-up contacts intended to promote exercise adherence over the following year. Participants were women aged 20 to 69 who had been diagnosed with stage I, II, or III breast cancer; had completed active treatment; and had moderate or higher fatigue. At the completion of the intervention, the survey responses of 40 BCS were evaluated using the chi-square test and multiple regression analysis. The Korean versions of the Revised Piper Fatigue Scale and Pittsburgh Fatigability Scale were used to measure fatigue and fatigability, respectively. RESULTS: There was no significant difference in fatigue or fatigability between the experimental and control groups at intervention completion. However, the control group showed a stronger association than the experimental group between fatigue and physical fatigability. In the control group, fatigue and fatigability were significantly associated with anxiety, depression, sleep disturbance, and endocrine symptoms. In the experimental group, only the cognitive/mood fatigue score and depression were significantly associated. Only endocrine symptoms influenced mental fatigability (B = - 0.185, P < 0.05), and only depression influenced cognitive/mood fatigue (B = 1.469, P < 0.05). CONCLUSIONS: Fatigue and fatigability showed different correlations with cancer-related symptoms after the exercise intervention. Future assessments of fatigability in intervention studies will allow measurement of the spectrum of patients' abilities to overcome fatigue at various physical activity levels while capturing different aspects of cancer-related symptoms. TRIAL REGISTRATION: This study was retrospectively registered on Clinical Research Information Service ( KCT0005763 ; date of registration: 31/12/2020).


Assuntos
Ansiedade/epidemiologia , Neoplasias da Mama/complicações , Neoplasias da Mama/epidemiologia , Sobreviventes de Câncer , Depressão/epidemiologia , Fadiga/epidemiologia , Transtornos do Sono-Vigília/epidemiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Ansiedade/etiologia , Sobreviventes de Câncer/psicologia , Depressão/etiologia , Exercício Físico , Fadiga/etiologia , Feminino , Humanos , Pessoa de Meia-Idade , Qualidade de Vida , República da Coreia , Transtornos do Sono-Vigília/etiologia , Avaliação de Sintomas
16.
Medicine (Baltimore) ; 100(22): e26152, 2021 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-34087871

RESUMO

RATIONALE: Patients with cancer have elevated risk of both venous thromboembolism and bleeding compared with patients without cancer due to cancer- and patient-specific factors. Balancing the increased and competing risks of clotting and bleeding in these patients can be difficult because management of cancer-associated thrombosis requires anticoagulation despite its known increased risks for bleeding. The adjustment of blood transfusion or cessation of anticoagulants can be a challenge in surgical diagnosis or treatment of cancer patients with such an imbalanced coagulate status. PATIENT CONCERNS: A 45-year-old woman with no underlying disease was suspected of ovarian cancer and was awaiting diagnostic laparoscopic exploration surgery. DIAGNOSES: While waiting for the surgery, the patient developed chest pain and underwent stent insertion under diagnosis of myocardial infarction. Two weeks later, endocarditis developed, and replacement of the aortic valve and mitral valve was planned. In addition, the patient developed multiple thromboembolisms and was administered anticoagulants to eliminate vegetation of valves and multiple thromboses. Her blood test showed anemia (7.4 g/dL) and severe thrombocytopenia (24 × 109/L). INTERVENTIONS: The patient underwent double valve replacement. OUTCOMES: A color change of the left lower extremity was noted 5 hours after double valve replacement, and angiography was performed. Thrombectomy was performed under diagnosis of thrombosis in the left iliac artery. One month later, the patient underwent laparoscopic exploration surgery as scheduled. LESSONS: This case will help establish the criteria of blood coagulation for surgical treatment of cancer patients with imbalanced clotting and bleeding.


Assuntos
Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Neoplasias/complicações , Trombocitopenia/complicações , Tromboembolia/etiologia , Trombose/complicações , Anticoagulantes/uso terapêutico , Endocardite/complicações , Endocardite/cirurgia , Feminino , Implante de Prótese de Valva Cardíaca/métodos , Humanos , Pessoa de Meia-Idade , Infarto do Miocárdio/cirurgia , Stents , Trombose/tratamento farmacológico
17.
Brain Dev ; 43(9): 912-918, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34116881

RESUMO

BACKGROUND: PURA-related neurodevelopmental disorders (PURA-NDDs) include 5q31.3 deletion syndrome and PURA syndrome. PURA-NDDs are characterized by neonatal hypotonia, moderate to severe global developmental delay/intellectual disability (GDD/ID), facial dysmorphism, epileptic seizures, nonepileptic movement disorders, and ophthalmological problems. PURA-NDDs have recently been identified and underestimated in neurodevelopmental cohorts, but their diagnosis is still challenging. METHODS: We retrospectively reviewed the clinical characteristics, genetic spectrum, and diagnostic journey of patients with PURA-NDDs. RESULTS: We report 2 patients with 5q31.3 microdeletion and 5 with PURA pathogenic variants. They demonstrated hypotonia (7/7, 100%), feeding difficulties (4/5, 80%), and respiratory problems (4/7, 57%) in the neonatal period. All of them had severe GDD/ID and could not achieve independent walking and verbal responses. Distinctive facial features of open-tented upper vermilion, long philtrum, and anteverted nares and poor visual fixation and tracking with or without nystagmus were most commonly found (5/7, 71.4%). There were no significant differences in clinical phenotypes between 5q31.3 microdeletion syndrome and PURA syndrome. PURA-NDDs need to be considered as a differential diagnosis in individuals who show severe hypotonia, including feeding difficulties since birth and severe developmental retardation with distinctive facial and ophthalmological features. CONCLUSIONS: Our data expands the phenotypic and genetic spectrum of PURA-NDD. Next-generation sequencing methods based on the detailed phenotypic evaluation would shorten the diagnostic delay and would help this rare disorder become a recognizable cause of neurodevelopmental delay.

18.
Sci Rep ; 11(1): 13439, 2021 06 29.
Artigo em Inglês | MEDLINE | ID: mdl-34188123

RESUMO

The high-flow nasal cannula (HFNC) is a useful treatment modality for acute hypoxemic respiratory failure (AHRF) in children. We compared the ability of the oxygen saturation to fraction of inspired oxygen ratio (S/F) and arterial oxygen partial pressure to fraction of inspired oxygen ratio (P/F) to predict HFNC outcomes in children with AHRF. This study included children treated with HFNC due to AHRF from April 2013 to March 2019 at the Severance Children's Hospital. HFNC failure was defined as the need for mechanical ventilation. Trends of S/F and P/F during HFNC were analyzed. To predict HFNC outcomes, a nomogram was constructed based on predictive factors. A total of 139 patients with arterial blood gas data were included in the S/F and P/F analyses. S/F < 230 at initiation showed high prediction accuracy for HFNC failure (area under the receiver operating characteristic curve: 0.751). Univariate analyses identified S/F < 230 at HFNC initiation and < 200 at 2 h (odds ratio [OR] 12.83, 95% CI 5.06-35.84), and hemato-oncologic disease (OR 3.79, 95% CI 1.12-12.78) as significant predictive factors of HFNC failure. The constructed nomogram had a highly predictive performance, with a concordance index of 0.765 and 0.831 for the exploratory and validation groups, respectively. S/F may be used as a predictor of HFNC outcomes. Our nomogram with S/F for HFNC failure within 2 h may prevent delayed intubation in children with AHRF.

19.
Radiology ; 300(2): 314-323, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34100684

RESUMO

Background There are few interval cancer studies of incident screening MRI for women with a personal history of breast cancer (PHBC). Purpose To evaluate the performance measures of screening breast MRI in women with a PHBC across multiple rounds and to identify subgroups who might be more at risk for interval cancer. Materials and Methods Between January 2008 and March 2019, consecutive screening breast MRI studies for women who had undergone breast-conserving surgery because of breast cancer were retrospectively identified. Inclusion criteria were negative or benign findings at mammography with US, availability of at least 1 year of follow-up data, and examinations having been performed within 12 months after the initial cancer surgery. Performance measures were calculated for each round. Multivariable logistic regression analysis was performed to determine factors associated with the risk of interval cancer. Results Among the 6603 MRI examinations for 2809 women (median age, 47 years; interquartile range, 42-53 years), the cancer detection rate was 8.3 per 1000 screening examinations (55 of 6603 examinations) and the interval cancer rate was 1.5 per 1000 screening examinations (10 of 6603 examinations). The sensitivity and specificity were 85% (55 of 65 examinations; 95% CI: 76, 93) and 88.3% (5775 of 6538 examinations; 95% CI: 87.6, 89.1), respectively. At multivariable analysis, interval cancers were associated with a first-degree family history of breast cancer (odds ratio [OR], 5.4; 95% CI: 1.3, 22.5; P = .02), estrogen receptor- and progesterone receptor-negative primary cancers (OR, 3.6; 95% CI: 1.1, 12.2; P = .04), and moderate or marked background parenchymal enhancement (OR, 10.8; 95% CI: 3.3, 35.7; P < .001). Conclusion Performance of screening breast MRI in women with a personal history of breast cancer was sustained across multiple rounds, and a first-degree family history of breast cancer, estrogen receptor- and progesterone receptor-negative primary cancers, and moderate or marked background parenchymal enhancement at MRI were independently associated with the risk of developing interval cancers. © RSNA, 2021 Online supplemental material is available for this article. See also the editorial by Slanetz in this issue.


Assuntos
Neoplasias da Mama/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Recidiva Local de Neoplasia/diagnóstico por imagem , Adulto , Neoplasias da Mama/patologia , Neoplasias da Mama/cirurgia , Feminino , Humanos , Mamografia , Programas de Rastreamento/métodos , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/patologia , Vigilância da População , Estudos Retrospectivos , Ultrassonografia Mamária
20.
Artigo em Inglês | MEDLINE | ID: mdl-34074610

RESUMO

OBJECTIVE: To investigate the effect of decreased cortical thickness or volume of medial temporal lobe structures on the risk of incident psychosis in patients with AD. DESIGN, SETTING, AND PARTICIPANTS: This hospital-based prospective longitudinal study enrolled 109 patients with AD. All patients with AD were evaluated at 3-month intervals to investigate the effect of decreased cortical thickness or volume of medial temporal lobe structures on the risk of incident psychosis in patients with AD. OUTCOME MEASURE: The main outcome measure was time-to-progression from AD to incident psychosis. The thickness or volume of medial temporal lobe structures (i.e., the hippocampus, entorhinal cortex, and parahippocampus) were measured using magnetic resonance imaging and the Freesurfer automated segmentation pipeline at baseline. RESULTS: Multivariate Cox proportional hazards regression analysis revealed that a decreased cortical thickness or volume of medial temporal region was associated with a higher risk of incident psychosis in patients with AD. The hazard ratios for decreased cortical thickness of the left entorhinal cortex and decreased cortical volume of the right hippocampus were 4.291 (95% confidence interval [CI], 1.196-15.384) and 2.680 [(CI, 1.003-1.196]), respectively. CONCLUSION: Our study revealed that decreased cortical thickness or volume of medial temporal sub-regions is a risk factor for incident psychosis in patients with AD. A careful assessment of the thickness or volume of the medial temporal lobe structures in AD may improve early detection and intervention of psychosis in AD.

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