RESUMO
Early-onset progressive encephalopathy is a lethal encephalopathy caused by NAXE gene mutations. This paper reports the clinical and genetic features of a patient with early-onset progressive encephalopathy. A 4-year-old boy admitted to the hospital had repeated walking instability and limb weakness for 2 years. The patient and his elder brother (already dead) had clinical onset at 2 years of age. Both of them showed symptoms such as strabismus, ataxia, reduced muscle tone, delayed development, and repeated respiratory failure after infection. The NAXE gene of the patient showed new compound heterozygous mutations, i.e., c.255 (exon 2) A>T from his mother and c.361 (exon 3) G>A from his father. The NAXE gene encodes an epimerase that is essential for the repair of cellular metabolites of NADHX and NADPHX. This disease is associated with a deficiency of the mitochondrial NAD(P)HX repair system. Patients usually have rapid disease progression. They are also quite likely to have respiratory failure immediately after infection.
Assuntos
Encefalopatias/enzimologia , Encefalopatias/genética , Mutação , Racemases e Epimerases/genética , Adulto , Idade de Início , Sequência de Bases , Pré-Escolar , Progressão da Doença , Feminino , Heterozigoto , Humanos , MasculinoRESUMO
OBJECTIVES: To evaluate the clinical application value of internal iliac artery balloon occlusion in pernicious placenta previa. METHODS: We retrospectively reviewed the medical records of the patients of pernicious placenta previa in a single center from Jan, 2010 to Jan, 2015. The patients were divided into two groups, internal iliac artery balloon occlusion group and the control group without endovascular intervention. Blood loss in operation, volume of transfused blood products, caesarean hysterectomy, operating time, hospital days after operation and postoperative morbidity were compared between the two groups. RESULTS: The balloon occlusion group had significantly less blood loss, the volume of transfused blood products, caesarean hysterectomy, hospital day after operation than the control group had. There was no statistical difference in operating time, intensive care units (ICU), hypotension, infection, hypoxemia, bladder injury, bowel obstruction, neonatal asphyxia between the two groups. The balloon occlusion group had significantly higher rate in coagulopathy, hypoalbuminemia, electrolyte imbalance. Among the patients whose uterus were preserved, the blood loss was not significantly difference between the two groups. Among the patients with the complication of placenta accreta, caesarean hysterectomy was less in balloon group, and blood loss between the two groups was not significantly different. Among the patients without placenta accrete, the blood loss was less in balloon group, and caesarean hysterectomy between the two groups was not significantly different. The risk of hysterectomy in balloon group was related to placenta accreta, uterine arteries engorgement, placental invasive serosa, taking placenta by hand, placental invasive bladder, barrel-shaped thickening of lower uterine segment, unable to remove placenta. CONCLUSIONS: Internal iliac artery balloon occlusion is an effective treatment for pernicious placenta previa.
Assuntos
Oclusão com Balão , Artéria Ilíaca , Placenta Prévia/terapia , Perda Sanguínea Cirúrgica , Transfusão de Sangue , Cesárea , Feminino , Humanos , Histerectomia , Gravidez , Estudos RetrospectivosRESUMO
To the best of our knowledge, fibrous hamartoma of infancy (FHI) mimicking teratoma presenting in the parapharyngeal space has not been reported to date. We present one case of this tumour and describe its characteristic findings on multidetector-row CT (MDCT). This case is of interest in that the parapharyngeal space was involved and the mass mimicked teratoma on MDCT. We present the MDCT findings and briefly review the relevant literature.
Assuntos
Hamartoma/diagnóstico por imagem , Doenças Faríngeas/diagnóstico por imagem , Faringe/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Criança , Diagnóstico Diferencial , Humanos , MasculinoRESUMO
PURPOSE: To develop and validate a radiomics nomogram for predicting early recurrence in high-grade serous ovarian cancer (HGSOC) patients. MATERIALS AND METHODS: From May 2008 to December 2019, 256 eligible HGSOC patients were enrolled and divided into training (n = 179) and test cohorts (n = 77) in a 7:3 ratio. A radiomics signature (Radscore) was selected by using recursive feature elimination based on a support vector machine (SVM-RFE) and building a radiomics model for recurrence prediction. Independent clinical risk factors were generated by univariable and multivariable Cox regression analyses. A combined model was developed based on the Radscore and independent clinical risk factors and presented as a radiomics nomogram. Its performance was assessed by AUC, Kaplan-Meier survival analysis and decision curve analysis. RESULTS: Seven radiomics features were selected. The radiomics model yielded AUCs of 0.715 (95% CI: 0.640, 0.790) and 0.717 (95% CI: 0.600, 0.834) in the training and test cohorts, respectively. The clinical model (FIGO stage and residual disease) yielded AUCs of 0.632 and 0.691 in the training and test cohorts, respectively. The combined model demonstrated AUCs of 0.749 (95% CI: 0.678, 0.821) and 0.769 (95% CI: 0.662, 0.877) in the training and test cohorts, respectively. In the combined model, PFS was significantly shorter in the high-risk group than in the low-risk group (P < 0.0001). CONCLUSIONS: The radiomics nomogram performed well for early individualized recurrence prediction in patients with HGSOC and can also be used to differentiate high-risk patients from low-risk patients.
Assuntos
Nomogramas , Neoplasias Ovarianas , Feminino , Humanos , Neoplasias Ovarianas/diagnóstico por imagem , Estudos Retrospectivos , Máquina de Vetores de Suporte , Tomografia Computadorizada por Raios XRESUMO
PURPOSE: To develop and validate a radiomics model for predicting preoperative lymph node (LN) metastasis in high-grade serous ovarian cancer (HGSOC). MATERIALS AND METHODS: From May 2008 to January 2018, a total of 256 eligible HGSOC patients who underwent tumor resection and LN dissection were divided into a training cohort (n=179) and a test cohort (n=77) in a 7:3 ratio. A Radiomics Model was developed based on a training cohort of 179 patients. A radiomics signature (defined as the Radscore) was selected by using the random forest method. Logistics regression was used as the classifier for modeling. An Integrated Model that incorporated the Radscore and CT_reported LN status (CT_LN_report) was developed and presented as a radiomics nomogram. Its performance was determined by the area under the curve (AUC), calibration, and decision curve. The radiomics nomogram was internally tested in an independent test cohort (n=77) and a CT-LN-report negative subgroup (n=179) using the formula derived from the training cohort. RESULTS: The AUC value of the CT_LN_report was 0.688 (95% CI: 0.626, 0.759) in the training cohort and 0.717 (95% CI: 0.630, 0.804) in the test cohort. The Radiomics Model yielded an AUC of 0.767 (95% CI: 0.696, 0.837) in the training cohort and 0.753 (95% CI: 0.640, 0.866) in the test. The radiomics nomogram demonstrated favorable calibration and discrimination in the training cohort (AUC=0.821), test cohort (AUC=0.843), and CT-LN-report negative subgroup (AUC=0.82), outperforming the Radiomics Model and CT_LN_report alone. CONCLUSIONS: The radiomics nomogram derived from portal phase CT images performed well in predicting LN metastasis in HGSOC and could be recommended as a new, convenient, and non-invasive method to aid in clinical decision-making.
RESUMO
To evaluate the "flow void" diameter in patients with pregnancy-related diseases with and without uterine AVMs and assess the diagnostic performance of unenhanced MRI for uterine AVMs. From May 2014 to April 2019, 79 patients with pregnancy-related diseases were included, including 36 with and 43 without uterine AVMs confirmed by DSA. On MRI, the diameter of the most prominent "flow void" (hereinafter referred to as fv-D) was measured and compared between patients with and without uterine AVMs. The diagnostic performance of fv-D was estimated with receiver operating characteristic curves. The "flow void" sign was observed in patients with and without uterine AVMs (P > 0.05). The fv-D was significantly larger in patients with uterine AVMs in the myometrium and parametrium than in patients without uterine AVMs (P < 0.0001). The fv-D achieved a reliable diagnostic performance in the myometrium (sensitivity 80.6%, specificity 60.5%, negative predictive value 78.8%, positive predictive value 63%, AUC 0.727, cut-off: > 1.33 mm) and parametrium (sensitivity 97.2%, specificity 67.4%, negative predictive value 96.7%, positive predictive value 71.4%, AUC 0.881, cut-off > 2.6 mm). On MRI, fv-D could diagnose uterine AVMs. The fv-D had a much higher diagnostic efficiency in the parametrium than in the myometrium. The parametrium fv-D greatly improved the diagnostic sensitivity and provides a more accurate, noninvasive method of investigating possible uterine AVMs.