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1.
Front Oncol ; 13: 1228178, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37664058

RESUMEN

Background: Urachal tumors are exceedingly rare, and adenocarcinoma is the most common malignant urachal neoplasm. Here, an especially rare patient of primary urachal leiomyosarcoma from our hospital was reported, and only five patients have been reported thus far since 1981. Case description: A 24-year-old man was admitted due to urinary tract symptoms. Both urogenital ultrasonography and contrast-enhanced computed tomography showed a mass at the dome of the urinary bladder. Laparoscopic surgical resection was performed, and histopathologic examination of the mass confirmed the diagnosis of urachal leiomyosarcoma. No recurrence was noted after one and a half years. Conclusions: Because the leiomyosarcoma located in the extraperitoneal space of Retzius and may manifest with nonspecific abdominal or urinary symptoms, early and definitive preoperative diagnosis is challenging. Partial cystectomy with complete excision of the urachus is recommended. Because only a few patients have been recorded, clinical outcomes and recurrence risks are difficult to assess.

2.
Diagnostics (Basel) ; 13(15)2023 Jul 27.
Artículo en Inglés | MEDLINE | ID: mdl-37568857

RESUMEN

OBJECTIVE: To evaluate the effect of low tube voltage (100 kV) combined with adaptive statistical iterative reconstruction-V (ASIR-V) on the visualization and image quality of the Adamkiewicz artery (AKA). METHODS: One hundred patients were prospectively enrolled and randomly assigned into two groups (both n = 50). Group A (100 kV) was reconstructed with filtered back projection (FBP) and ASIR-V from 10% to 100% with 10% intervals. Group B (120 kV) was only reconstructed with FBP. The objective image quality was evaluated by using CT values of the aorta (CTAorta), background noise, signal-to-noise ratio of the descending aorta (SNRAorta), and contrast-to-noise ratio of the spinal cord (CNRSpinal cord). The subjective image quality and visualization scores of the AKA were assessed on a 5-point scale. RESULTS: CTAorta was significantly higher in Group A than in Group B (p < 0.001). When ASIR-V weights were ≥60%, significant differences were found in the background noise, SNRAorta, and CNRSpinal cord between the two groups (all p < 0.05). In Group A, compared with FBP, the subjective score gradually increased as ASIR-V increased to 80%, which decreased when ASIR-V exceeded 80%. The visualization scores of the AKA (≥60%) and the ability to detect vessel continuity (≥80%) gradually increased as the ASIR-V weights increased (p < 0.05). The effective radiation dose was reduced by about 40.36% in Group A compared to Group B. CONCLUSIONS: compared with conventional scanning protocol, using a combination of low tube voltage (100 kV) and 80% ASIR-V protocol could not only increase the visualization of the AKA, but also improve image quality and reduce the radiation doses.

3.
Front Med (Lausanne) ; 10: 1182746, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37359020

RESUMEN

Gastrointestinal (GI) bleeding is a common clinical condition that can be caused by a variety of reasons. Bleeding can occur anywhere in the GI tract, and it usually presents as vomiting of blood, melena or black stools. We herein present a case of a 48-year-old man who was ultimately diagnosed with perforation of the lower ileum, pseudoaneurysm of the right common iliac artery, lower ileum-right common iliac artery fistula, and pelvic abscess caused by accidental ingestion of a toothpick. This case suggests that accidental ingestion of a toothpick may also be the cause of GI bleeding in some patients. For patients with unexplained GI bleeding, especially those with small bowel bleeding, a rational and combined use of gastroduodenoscopy, colonoscopy, unenhanced and contrast-enhanced abdominal CT can help detect the causes of GI bleeding and improve diagnostic accuracy.

4.
Abdom Radiol (NY) ; 48(8): 2596-2603, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-37210407

RESUMEN

PURPOSE: To evaluate the image quality and diagnostic performance for pancreatic lesion between true non-contrast (TNC) and virtual non-contrast (VNC) images obtained from the dual-energy computed tomography (DECT). METHODS: One hundred six patients with pancreatic mass underwent contrast-enhanced DECT examinations were retrospectively included in this study. VNC images of the abdomen were generated from late arterial (aVNC) and portal (pVNC) phases. For quantitative analysis, the attenuation differences and reproducibility of abdominal organs were compared between TNC and aVNC/pVNC measurements. Qualitatively image quality was assessed by two radiologists using a five-point scale, and they independently compared the detection accuracy of pancreatic lesions between TNC and aVNC/pVNC images. The volume CT dose index (CTDIvol) and size-specific dose estimates (SSDE) were recorded to evaluate the potential dose reduction when using VNC reconstruction to replace the unenhanced phase. RESULTS: A total of 78.38% (765/976) of the attenuation measurement pairs were reproducible between TNC and aVNC images, and 71.0% (693/976) between TNC and pVNC images. In triphasic examinations, a total of 108 pancreatic lesions were found in 106 patients, and no significant difference in detection accuracy was found between TNC and VNC images (p = 0.587-0.957). Qualitatively, image quality was rated diagnostic (score ≥ 3) in all the VNC images. Calculated CTDIvol and SSDE reduction of about 34% could be achieved by omitting the non-contrast phase. CONCLUSION: VNC images of DECT provide diagnostic image quality and accurate pancreatic lesions detection, which are a promising alternative to unenhanced phase with a substantial reduction of radiation exposure in clinical routine.


Asunto(s)
Neoplasias Pancreáticas , Tomografía Computarizada por Rayos X , Humanos , Reproducibilidad de los Resultados , Estudios Retrospectivos , Tomografía Computarizada por Rayos X/métodos , Abdomen , Páncreas/diagnóstico por imagen , Neoplasias Pancreáticas/diagnóstico por imagen
5.
Diagnostics (Basel) ; 13(9)2023 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-37174999

RESUMEN

Cystic adenomyosis is a rare type of uterine adenomyosis, mainly seen in young women, which is often characterized by severe dysmenorrhea. The quality of life and reproductive function of young women could be affected by misdiagnosis and delayed treatment. At present, there are no universal guidelines and consensus. We report two cases of patients with cystic adenomyosis in juveniles treated with high-intensity focused ultrasound (HIFU) ablation. In the first case, magnetic resonance imaging (MRI) indicated a cystic mass of 2.0 cm × 3.1 cm × 2.4 cm in the uterus. After she underwent HIFU treatment, her pelvic MRI showed a mass of 1.1 × 2.4 cm in size, and her dysmenorrhea symptoms gradually disappeared. In the second case, a pelvic MRI indicated a 5.1 cm × 3.3 cm × 4.7 cm cystic mass in the uterus. After she underwent HIFU and combined four consecutive cycles of GnRH-a treatment, the lesion shrunk 1.2 cm ×1.4 cm × 1.6 cm, without dysmenorrhea. Simultaneously, the report reviewed 14 cases of juvenile cystic adenomyosis over the last ten years. HIFU or HIFU-combined drugs were safe and effective in treating juvenile cystic adenomyosis, but multicenter and prospective studies may be necessary to validate this in the future.

6.
Diagnostics (Basel) ; 13(3)2023 Jan 31.
Artículo en Inglés | MEDLINE | ID: mdl-36766625

RESUMEN

PURPOSE: Pancreatic duct variation can affect the secretory function of the pancreas. We aimed to explore the pancreatic duct variation, observed using low-keV monoenergetic images [MEI (+)] of dual-energy CT (DECT), and its relationship with related diseases. We further sought to compare pancreatic duct imaging using low-keV MEI (+) of DECT and magnetic resonance cholangiopancreatography (MRCP). MATERIALS AND METHODS: The DECT and MRCP images of 854 patients were evaluated retrospectively. The 808 patients' pancreatic duct types were classified according to the anatomy and the opening of the pancreatic ducts, and the correlation with related diseases was analyzed. The DECT and MRCP images of 852 patients were graded according to the sharpness of the pancreatic ducts for evaluation. RESULTS: A higher prevalence of acute pancreatitis (AP), chronic pancreatitis (CP), and duodenal papillary carcinoma (DPC) was observed in the variant group. Of the 27 AP cases in the variant group, 9 patients (33.3%) were Type 3c. Additionally, Type 4a was significantly correlated with AP and CP (p < 0.05). Low-keV MEI (+) of DECT outperformed the MRCP images in the sharpness of the pancreatic ducts in 852 patients. CONCLUSIONS: Pancreatic duct variation is associated with AP, CP, and DPC. Low-keV MEI (+) DECT is an effective method to observe the pancreatic duct system.

7.
Radiol Oncol ; 57(1): 20-34, 2023 03 01.
Artículo en Inglés | MEDLINE | ID: mdl-36795007

RESUMEN

BACKGROUND: Solitary pulmonary nodules (SPNs) are one of the most common chest computed tomography (CT) abnormalities clinically. We aimed to investigate the value of non-contrast enhanced CT (NECT), contrast enhanced CT (CECT), CT perfusion imaging (CTPI), and dual- energy CT (DECT) used for differentiating benign and malignant SPNs with a multi-institutional and prospective study. PATIENTS AND METHODS: Patients with 285 SPNs were scanned with NECT, CECT, CTPI and DECT. Differences between the benign and malignant SPNs on NECT, CECT, CTPI, and DECT used separately (NECT combined with CECT, DECT, and CTPI were methods of A, B, and C) or in combination (Method A + B, A + C, B + C, and A + B + C) were compared by receiver operating characteristic curve analysis. RESULTS: Multimodality CT imaging showed higher performances (sensitivities of 92.81% to 97.60%, specificities of 74.58% to 88.14%, and accuracies of 86.32% to 93.68%) than those of single modality CT imaging (sensitivities of 83.23% to 85.63%, specificities of 63.56% to 67.80%, and accuracies of 75.09% to 78.25%, all p < 0.05). CONCLUSIONS: SPNs evaluated with multimodality CT imaging contributes to improving the diagnostic accuracy of benign and malignant SPNs. NECT helps to locate and evaluate the morphological characteristics of SPNs. CECT helps to evaluate the vascularity of SPNs. CTPI using parameter of permeability surface and DECT using parameter of normalized iodine concentration at the venous phase both are helpful for improving the diagnostic performance.


Asunto(s)
Nódulo Pulmonar Solitario , Humanos , Nódulo Pulmonar Solitario/diagnóstico por imagen , Nódulo Pulmonar Solitario/patología , Estudios Prospectivos , Tomografía Computarizada por Rayos X/métodos , Curva ROC
9.
Sci Rep ; 12(1): 20700, 2022 11 30.
Artículo en Inglés | MEDLINE | ID: mdl-36450808

RESUMEN

High-intensity focused ultrasound (HIFU) has been reported to be a minimally invasive effective method for the treatment of secondary hypersplenism. However, neither the short-term efficacy nor the indications and/or contraindications have been described in patients with cirrhosis. From October 2019 to May 2021, eleven cases of patients with cirrhotic secondary hypersplenism were enrolled. The blood counts, liver function tests and abdominal ultrasound and/or MRI scans of all patients were closely evaluated. Among these 11 patients, eight (72.7%) patients were classified as Child-Pugh A, and the other 3 (27.3%) patients were Child-Pugh B; Five (45%) patients were diagnosed with gallstone, including multiple small stones in 2 patients and single stone in 3 patients. HIFU was performed successfully in all 11 patients. After HIFU, hematologic parameters and liver function were significantly improved in all 11 patients (p < 0.05). The HIFU ablated volume to spleen volume rate was 35-61%. Complications were ecchymosis of the waist in 7 (63.3%) patients, ablated area pain in 3 (27.3%) patients, and choledocholithiasis in 2 (18.2%) patients with multiple small gallstones. All of them recovered smoothly without additional treatment except for 2 patients with choledocholithiasis recovered with risky endoscopic retrograde cholangiopancreatography (ERCP) treatment. This series suggested that HIFU is an effective and safe treatment for cirrhotic secondary hypersplenism in patients classified as Child-Pugh A or B. However, multiple small gallstones could be a relative contraindication for it.


Asunto(s)
Coledocolitiasis , Cálculos Biliares , Hiperesplenismo , Humanos , Hiperesplenismo/diagnóstico por imagen , Hiperesplenismo/etiología , Hiperesplenismo/cirugía , Contraindicaciones , Cirrosis Hepática/complicaciones , Cirrosis Hepática/terapia
10.
Oncol Lett ; 24(5): 403, 2022 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-36276491

RESUMEN

The aim of the present study was to compare the diagnostic performance of the main parameters derived from diffusion kurtosis imaging (DKI), intravoxel incoherent motion (IVIM) and diffusion-weighted imaging (DWI) regarding the detection and grading of hepatocellular carcinoma (HCC). A total of 78 patients diagnosed with HCC by biopsy were prospectively enrolled in the present study, and underwent routine magnetic resonance imaging (MRI), DWI, IVIM, DKI and contrast-enhanced MRI prior to surgery. Measurements, including mean diffusivity (MD), mean diffusional kurtosis (MK), true diffusion coefficient (D), pseudo-diffusion coefficient (D*), perfusion fraction (f) and apparent diffusion coefficient (ADC), were compared with grading HCC using one-way ANOVA followed by the Student-Neuman-Keuls-q post-hoc test. Spearman's correlation coefficient was used to analyze the correlation between each parameter and pathological grade, while the diagnostic efficiency was evaluated using a receiver operating characteristic (ROC) curve. The 78 patients enrolled in the present study were grouped into highly (n=22), moderately (n=41) or poorly (n=15) differentiated HCC groups according to the criteria of Pathology and Genetics Tumors of the Digestive System. MK values differed significantly between different grades and decreased gradually with the degree of tumor differentiation. The MD, D and ADC values in the highly differentiated HCC group were significantly higher than those in the moderately or poorly differentiated HCC groups (all P<0.001), whereas no significant differences were observed in D* or f (P=0.502 and P=0.853, respectively). A significant correlation was observed between MK, MD, D and ADC, and HCC grades (r=0.705, r=0.570, r=0.423 and r=0.687, respectively). The comparison of the ROC curves of MK, MD, D, ADC, D* and f values for predicting highly differentiated HCC suggested that MK and D were the best indicators for predicting highly differentiated HCC, as the area under the ROC curve (AUC) of MK and D was significantly higher than that of ADC (Z=2.247 and 2.428, P=0.025 and 0.016, respectively), whereas non-statistically significant differences were observed in the AUC values between MK and D (Z=0.072; P=0.942). The DKI-derived MK and IVIM-derived D values had a similar diagnostic performance and were superior to ADC in discriminating the histological grade of HCC. In addition, the combination of MK and D values exhibited an improved diagnostic performance.

11.
Insights Imaging ; 13(1): 153, 2022 Sep 24.
Artículo en Inglés | MEDLINE | ID: mdl-36153376

RESUMEN

OBJECTIVES: To evaluate the value of monoenergetic images (MEI [+]) and iodine maps in dual-source dual-energy computed tomography (DECT) for assessing pancreatic ductal adenocarcinoma (PDAC), including the visually isoattenuating PDAC. MATERIALS AND METHODS: This retrospective study included 75 PDAC patients, who underwent contrast-enhanced DECT examinations. Conventional polyenergetic image (PEI) and 40-80 keV MEI (+) (10-keV increments) were reconstructed. The tumor contrast, contrast-to-noise ratio (CNR) of the tumor and peripancreatic vessels, the signal-to-noise ratio (SNR) of the pancreas and tumor, and the tumor diameters were quantified. On iodine maps, the normalized iodine concentration (NIC) in the tumor and parenchyma was compared. For subjective analysis, two radiologists independently evaluated images on a 5-point scale. RESULTS: All the quantitative parameters were maximized at 40-keV MEI (+) and decreased gradually with increasing energy. The tumor contrast, SNR of pancreas and CNRs in 40-60 keV MEI (+) were significantly higher than those in PEI (p < 0.05). For visually isoattenuating PDAC, 40-50 keV MEI (+) provided significantly higher tumor CNR compared to PEI (p < 0.05). The reproducibility in tumor measurements was highest in 40-keV MEI (+) between the two radiologists. The tumor and parenchyma NIC were 1.28 ± 0.65 and 3.38 ± 0.72 mg/mL, respectively (p < 0.001). 40-50 keV MEI (+) provided the highest subjective scores, compared to PEI (p < 0.001). CONCLUSIONS: Low-keV MEI (+) of DECT substantially improves the subjective and objective image quality and consistency of tumor measurements in patients with PDAC. Combining the low-keV MEI (+) and iodine maps may yield diagnostically adequate tumor conspicuity in visually isoattenuating PDAC.

12.
Arch Iran Med ; 25(4): 274-276, 2022 04 01.
Artículo en Inglés | MEDLINE | ID: mdl-35943000

RESUMEN

The differential diagnosis of acute abdominal pain is a challenging task for medical doctors working in the department of gastroenterology. It is clear that acute abdominal pain may be associated with a number of pathologic conditions. We report an unusual case of an unnoticed swallowed wooden toothpick stuck in the ileocecal area of a young man with right lower abdominal pain who was misdiagnosed as acute appendicitis. However, an abdominal computed tomography scan showed an elongated foreign body stuck in the ileocecal area. The elongated foreign body was identified as a wooden toothpick, which was then grasped with a foreign body forceps and successfully removed through colonoscopy. The patient's abdominal pain was significantly relieved within 2 days following treatment. On the basis of the case report, we suggest the importance of abdominal computed tomography scans for the differential diagnosis of acute abdominal pain and highlight the need for extra vigilance in excluding the diagnosis of foreign bodies in the gastrointestinal tract of patients with acute abdominal pain.


Asunto(s)
Apendicitis , Cuerpos Extraños , Perforación Intestinal , Dolor Abdominal/etiología , Enfermedad Aguda , Apendicitis/complicaciones , Apendicitis/diagnóstico , Errores Diagnósticos/efectos adversos , Cuerpos Extraños/diagnóstico , Cuerpos Extraños/diagnóstico por imagen , Humanos , Perforación Intestinal/complicaciones , Perforación Intestinal/diagnóstico , Masculino
13.
Diagnostics (Basel) ; 12(8)2022 Aug 08.
Artículo en Inglés | MEDLINE | ID: mdl-36010267

RESUMEN

BACKGROUND: We designed and validated the value of multiple radiomics models for diagnosing histological grade of pancreatic ductal adenocarcinoma (PDAC), holding a promise of assisting in precision medicine and providing clinical therapeutic strategies. METHODS: 198 PDAC patients receiving surgical resection and pathological confirmation were enrolled and classified as 117 low-grade PDAC and 81 high-grade PDAC group. An external validation group was used to assess models' performance. Available radiomics features were selected using GBDT algorithm on the basis of the arterial and venous phases, respectively. Five different machine learning models were built including k-nearest neighbour, logistic regression, naive bayes model, support vector machine, and random forest using ten times tenfold cross-validation. Multivariable logistic regression analysis was applied to establish clinical model and combined model. The models' performance was assessed according to its predictive performance, calibration curves, and decision curves. A nomogram was established for visualization. Survival analysis was conducted for stratifying the overall survival prior to treatment. RESULTS: In the training group, the RF model demonstrated the optimal predictive ability and robustness with an AUC of 0.943; the SVM model achieved the secondary performance, followed by Bayes model. In the external validation group, these three models (Bayes, RF, SVM) also achieved the top three predictive ability. A clinical model was built by selected clinical features with an AUC of 0.728, and combined model was established by an RF model and a clinical model with an AUC of 0.961. The log-rank test revealed that the low-grade group survived longer than the high-grade group. CONCLUSIONS: The multiphasic CECT radiomics models offered an accurate and noninvasive perspective to differentiate histological grade in PDAC and advantages of machine learning models including RF, SVM and Bayes were more remarkable.

14.
Front Med (Lausanne) ; 9: 922299, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35814756

RESUMEN

Radiomics involves high-throughput extraction and analysis of quantitative information from medical images. Since it was proposed in 2012, there are some publications on the application of radiomics for (1) predicting recurrent acute pancreatitis (RAP), clinical severity of acute pancreatitis (AP), and extrapancreatic necrosis in AP; (2) differentiating mass-forming chronic pancreatitis (MFCP) from pancreatic ductal adenocarcinoma (PDAC), focal autoimmune pancreatitis (AIP) from PDAC, and functional abdominal pain (functional gastrointestinal diseases) from RAP and chronic pancreatitis (CP); and (3) identifying CP and normal pancreas, and CP risk factors and complications. In this review, we aim to systematically summarize the applications and progress of radiomics in pancreatitis and it associated situations, so as to provide reference for related research.

15.
Mol Clin Oncol ; 16(3): 62, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-35154702

RESUMEN

At present, minimally invasive surgery is one of the primary strategies for the treatment of malignant pulmonary tumors. Although, there are some comparative studies between microwave ablation and radiofrequency for the treatment of malignant pulmonary tumors, there are few studies that have investigated the comparison between microwave ablation and cryoablation. The aim of the study was to retrospectively compare the efficacy and complications of microwave ablation (MWA) and cryoablation in the treatment of malignant pulmonary tumors. A retrospective analysis was performed on 48 patients with malignant lung tumors treated with MWA or cryoablation in The Third Hospital of Mianyang and The Affiliated Hospital of North Sichuan Medical College between June 2014 and June 2018. Of these patients, 29 received MWA and 19 received cryoablation. Intraprocedural pain was evaluated by using the visual analog scale (VAS). The intraprocedural pain, response rates, overall survival (OS) and complications rates were compared between the MWA group and cryoablation group. The results showed that the patients in the MWA group experienced more pain than those in cryoablation group as the MWA group VAS scores were much higher than those in cryoablation group (P<0.001). The overall response rate of the MWA group [21/29 (72.41%)] was not significantly different from the cryoablation group [14/19 (73.68%)] (P=0.92). The 6-, 12-, 24- and 36-month OS rates in the MWA group and cryoablation group were 92.72, 81.28, 64.54 and 54.91%, and 94.07, 81.13, 57.33 and 43.04%, respectively. No significant differences were found in the OS rate between the two groups (P=0.79). The complication rates in the MWA and cryoablation groups were 34.48 and 36.84%, respectively; there was no significant difference between the two groups (P=0.59). No patients died during the perioperative period. Cryoablation had a similar therapeutic effect compared with MWA in the treatment of pulmonary malignant tumors, but was associated with less pain.

16.
Insights Imaging ; 13(1): 21, 2022 Feb 04.
Artículo en Inglés | MEDLINE | ID: mdl-35122162

RESUMEN

BACKGROUND: Pancreatic ductal adenocarcinoma (PDAC) remains a malignancy with poor prognosis, appropriate surgical resection and neoadjuvant therapy depend on the accurate identification of pancreatic supplying arteries. We aim to evaluate the ability of monoenergetic images (MEI [+]) of dual-energy CT (DECT) to improve the visualization of pancreatic supplying arteries compared to conventional polyenergetic images (PEI) and investigate the implications of vascular variation in pancreatic surgery and transarterial interventions. RESULTS: One hundred patients without pancreatic diseases underwent DECT examinations were retrospectively enrolled in this study. The signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) at 40-keV MEI (+) were significantly higher than those of PEI (p < 0.05). All subjective MEI (+) scores were significantly higher than those of PEI (p < 0.05). The visualization rates were significantly higher for posterior superior pancreaticoduodenal artery (PSPDA), anterior and posterior inferior pancreaticoduodenal artery (AIPDA, PIPDA), anterior and posterior pancreaticoduodenal arcade (APAC, PPAC), transverse and caudal pancreatic artery (TPA, PCA) at 40-keV MEI (+) than those of PEI (p < 0.05). However, there were no significant differences for visualizing anterior superior pancreaticoduodenal artery (ASPDA), inferior pancreaticoduodenal artery (IPDA), dorsal and magnificent pancreatic artery (DPA, MPA) between 40-keV MEI (+) and PEI (p > 0.05). Four types of variations were observed in the origin of DPA and three to five types in the origin of PSPDA, AIPDA and PIPDA. CONCLUSIONS: 40-keV MEI (+) of DECT improves the visualization and objective and subjective image quality of pancreatic supplying arteries compared to PEI. Pancreatic supplying arteries have great variations, which has important implications for preoperative planning of technically challenging surgeries and transarterial interventions.

17.
Medicine (Baltimore) ; 101(3): e28666, 2022 Jan 21.
Artículo en Inglés | MEDLINE | ID: mdl-35060563

RESUMEN

RATIONALE: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by facial angiofibromas, epilepsy, intellectual disability, and the development of hamartomas in several organs, including the heart, kidneys, brain, and lungs. Mutations in either TSC1 or TSC2 result in dysregulated mTOR activation, leading to the occurrence of TSC. PATIENT CONCERNS: A 44-year-old man was hospitalized for acute lumbago and hematuria. DIAGNOSIS: The patient presented with facial angiofibromas, epilepsy, fibrous plaques, periungual fibroma, renal angiomyolipomas (AML), pulmonary lymphangioleiomyomatosis (LAM), liver hamartomas, and osteosclerosis. A diagnosis of TSC was made based on clinical manifestations. INTERVENTIONS: Next-generation sequencing (NGS) was performed to screen for potential variants, which were verified using Sanger sequencing. The final variant was analyzed using a minigene assay. OUTCOMES: A potentially pathogenic novel TSC2 variant (NM_000548.4, c.336_336 + 15delGGTAAGGCCCAGGGCG) was identified using NGS and confirmed using Sanger sequencing. The in vitro minigene assay showed that the variant c.336_336 + 15delGGTAAGGCCCAGGGCG caused erroneous integration of a 74 bp sequence into intron 4. This novel variant was not found in his unaffected parents or 100 unrelated healthy controls. LESSONS: We identified a novel heterozygous TSC2 variant, c.336_336 + 15delGGTAAGGCCCAGGGCG, in a patient with classical TSC and demonstrated that this variant leads to aberrant splicing using a minigene assay. Our results extend the understanding of the mutational spectrum of TSC2.


Asunto(s)
Empalme del ARN/genética , Proteína 2 del Complejo de la Esclerosis Tuberosa/genética , Esclerosis Tuberosa/genética , Adulto , Epilepsia , Heterocigoto , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Discapacidad Intelectual , Masculino , Mutación , Esclerosis Tuberosa/complicaciones
18.
Ann Med ; 53(1): 2003-2018, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34727802

RESUMEN

OBJECTIVE: To assess the value of pleural effusion volume (PEV) quantified on chest computed tomography (CT) in patients with early stage acute pancreatitis (AP). METHODS: Data of PEV, and C-reactive protein (CRP) levels as well as Ranson, bedside index of severity in acute pancreatitis (BISAP), Marshall, acute physiology and chronic health evaluation II (APACHE II), CT severity index (CTSI), and extra-pancreatic inflammation on computed tomography (EPIC) scores in patients with AP were collected. Duration of hospitalization, severity of AP, infection, procedure, intensive care unit (ICU) admission, organ failure, or death were included as the outcome parameters. RESULTS: In 465 patients, the mean PEV was 98.8 ± 113.2 mL. PEV showed strong and significant correlations with the CRP levels, duration of hospitalization as well as the Ranson, BISAP, Marshall, APACHE II, CTSI, and EPIC scores (p < .05). PEV demonstrated significant accuracy in predicting severity, infection, procedure, ICU admission, organ failure, and death (p < .05). CONCLUSION: PEV quantified on chest CT positively associated with the duration of hospitalization, CRP levels, Ranson, BISAP, Marshall, APACHE II, CTSI, and EPIC scores. It can be a reliable radiologic biomarker in predicting severity and clinical outcomes of AP.KEY MESSAGESPleural effusion is a common chest finding in patients with acute pancreatitis.Pleural effusion volume quantified on chest CT examination positively associated with the duration of hospitalization, CRP level, as well as Ranson, BISAP, Marshall, APACHE II, CTSI, and EPIC scoring systems.Pleural effusion volume can be a reliable radiologic biomarker in the prediction of severity and clinical outcomes of acute pancreatitis.


Asunto(s)
Pulmón/diagnóstico por imagen , Pancreatitis/diagnóstico por imagen , Derrame Pleural/diagnóstico por imagen , Enfermedad Aguda , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pancreatitis/complicaciones , Pancreatitis/diagnóstico , Derrame Pleural/etiología , Valor Predictivo de las Pruebas , Pronóstico , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Tomografía Computarizada por Rayos X
19.
Orphanet J Rare Dis ; 16(1): 396, 2021 09 26.
Artículo en Inglés | MEDLINE | ID: mdl-34565417

RESUMEN

BACKGROUND: Lupus enteritis (LEn) is a rare complication of systemic lupus erythematosus (SLE). Timely diagnosis and treatment of LEn are necessary to prevent the most serious consequences - intestinal perforation, gastrointestinal bleeding, and death. We compared the clinical features of SLE patients with and without LEn. METHODS: The clinical data of LEn inpatients at Suining Central Hospital from July 2012 to June 2020 were examined. These LEn patients were matched (1:2 ratio) with concurrently hospitalized SLE patients who did not have LEn. The two groups were compared using multivariate logistic regression. RESULTS: We compared SLE inpatients with LEn (n = 43) and SLE inpatients without LEn (n = 86) at our institution. Multivariate logistic regression showed that ascites (odds ratio [OR]: 9.961, 95%CI: 2.215-44.802, P = 0.003), hydronephrosis (OR: 28.060, 95%CI: 2.303-341.962, P = 0.009), leukopenia (OR: 5.890, 95%CI: 1.813-19.135, P = 0.003), reduced complement C3 level (OR: 4.791, 95%CI: 1.605-14.300, P = 0.005), and elevated immunoglobin (Ig)A level (OR: 4.040, 95%CI: 1.307-12.487, P = 0.015) were independently associated with LEn. Within the LEn group, abdominal pain was the most common abdominal symptom (88.4%), and increased mesenteric fat attenuation (74.4%) and bowel wall thickening (58.1%) were the most common computed tomography (CT) findings. Most LEn patients (88.4%) required high-dose glucocorticoid therapy (≥ 80 mg methylprednisolone/day), and cyclophosphamide was the most commonly used immunosuppressant (62.8%). CONCLUSIONS: Abdominal pain was the most common clinical symptom of LEn. Abdominal CT provides important information for detection and diagnosis of LEn. Ascites, hydronephrosis, leukopenia, hypocomplementemia (C3), and increased IgA were independently associated with LEn.


Asunto(s)
Enteritis , Lupus Eritematoso Sistémico , Dolor Abdominal , Enteritis/tratamiento farmacológico , Humanos , Inmunosupresores/uso terapéutico , Lupus Eritematoso Sistémico/complicaciones , Lupus Eritematoso Sistémico/tratamiento farmacológico , Estudios Retrospectivos
20.
World J Clin Cases ; 9(18): 4734-4740, 2021 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-34222440

RESUMEN

BACKGROUND: Meigs' syndrome is regarded as a benign ovarian tumor accompanied by pleural effusion and ascites, both of which resolve after removal of the tumor. Patients often seek treatment in the Department of Respiratory and Critical Care Medicine or other internal medicine departments due to symptoms caused by ascites or hydrothorax. Here, we report a rare case of Meigs' syndrome caused by granulosa cell tumor accompanied with intrathoracic lesions. CASE SUMMARY: A 52-year-old women was admitted to the Department of Respiratory and Critical Care Medicine due to coughing and expectoration accompanied with shortness of breath. Chest X-ray and chest computed tomography showed a modest volume of pleural fluid with pleural thickening in the right lung. The carbohydrate antigen 125 (CA125) concentration was 150.8 U/mL (normal, 0-35 U/mL) and no tumor cells were observed in pleural fluid. Nodules and a neoplasm with a fish meat-like appearance in the parietal pleura and nodules with a 'string of beads'-like appearance in the diaphragm were found by thoracoscopic examination. Furthermore, pelvic magnetic resonance revealed a pelvic mass measuring about 11.6 cm × 10.0 cm × 12.4 cm with heterogeneous signal intensity and multiple hypointense separations. Total abdominal hysterectomy, bilateral adnexectomy, and separation of pelvic adhesion were performed under general anesthesia. The pathology results showed granulosa cell tumor. At the 2-mo follow-up after the surgery, the hydrothorax subsided, and the CA125 level returned to normal. CONCLUSION: For postmenopausal women with unexplained hydrothorax and elevated CA125, in addition to being suspected of having gynecological malignancy, Meigs' syndrome should be considered.

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