scholarly journals PATH-18. HIGH-GRADE NEUROEPITHELIAL TUMOR (HGNET) IN A PEDIATRIC CASE-SERIES

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii428-iii428
Author(s):  
Felipe Hada Sanders ◽  
Alessandra Azambuja ◽  
Fernando Frasseto ◽  
Sergio Rosemberg ◽  
Hamilton Matushita
Keyword(s):  
Young Patients ◽  
Case Series ◽  
Medical Community ◽  
Molecular Entity ◽  
High Grade ◽  
Pediatric Case ◽  
Dismal Prognosis ◽  
Pathologic Features ◽  
Common Clinical Presentation ◽  
The Central Nervous System

Abstract The central nervous system (CNS) high-grade neuroepithelial tumor is a recently described molecular entity. We report 2 new CNS HGNET cases sharing common clinical presentation and pathologic features. In summary, CNS HGNET represents a rare tumor occurring in young patients with dismal prognosis. We think it is important to report these cases to spread the experience and raise the knowledge of the medical community.

scholarly journals Urothelial Tumors of the Urinary Bladder in Young Patients: A Clinicopathologic Study of 59 Cases

2013 ◽  
Vol 137 (10) ◽  
pp. 1337-1341 ◽  
Author(s):  
Melissa L. Stanton ◽  
Li Xiao ◽  
Bogdan A. Czerniak ◽  
Charles C. Guo
Keyword(s):  
Urinary Bladder ◽  
Clinical Outcomes ◽  
Young Patients ◽  
Muscularis Propria ◽  
Low Grade ◽  
High Grade ◽  
Urothelial Carcinomas ◽  
Pathologic Features ◽  
Urothelial Tumors

Context.—Urothelial tumors are rare in young patients. Because of their rarity, the natural history of the disease in young patients remains poorly understood. Objective.—To understand the pathologic and clinical features of urothelial tumors of the urinary bladder in young patients. Design.—We identified 59 young patients with urothelial tumors of the urinary bladder treated at our institution and analyzed the tumors' pathologic features and the patients' clinical outcomes. Results.—All patients were 30 years or younger, with a mean age of 23.5 years (range, 4–30). Thirty-eight patients (64%) were male, and 21 (36%) were female. Most tumors were noninvasive, papillary urothelial tumors (49 of 59; 83%), including papillary urothelial neoplasms of low malignant potential (7 of 49; 14%), low-grade papillary urothelial carcinomas (38 of 49; 78%), and high-grade papillary urothelial carcinomas (4 of 49; 8%). Only a few (n = 10) of the urothelial tumors were invasive, invading the lamina propria (n = 5; 50%), muscularis propria (n = 4; 40%), or perivesical soft tissue (n = 1; 10%). Clinical follow-up information was available for 41 patients (69%), with a mean follow-up time of 77 months. Of 31 patients with noninvasive papillary urothelial tumors, only 1 patient (3%) later developed an invasive urothelial carcinoma and died of the disease, and 30 of these patients (97%) were alive at the end of follow-up, although 10 (32%) had local tumor recurrences. In the 10 patients with invasive urothelial carcinomas, 3 patients (30%) died of the disease and 5 others (50%) were alive with metastases (the other 2 [20%] were alive with no recurrence). Conclusion.—Urothelial tumors in young patients are mostly noninvasive, papillary carcinomas and have an excellent prognosis; however, a small subset of patients may present with high-grade invasive urothelial carcinomas that result in poor clinical outcomes.

scholarly journals The Diagnostic Dilemma of Ascites in Women

2021 ◽  
Vol 6 (3) ◽  
Keyword(s):  
Clinical Presentation ◽  
Demographic Data ◽  
Case Series ◽  
Vascular Occlusion ◽  
Total Abdominal Hysterectomy ◽  
Endometrial Biopsy ◽  
Diagnostic Dilemma ◽  
Female Patients ◽  
Pathologic Features ◽  
Common Clinical Presentation

Introduction: Ascites is the pathological accumulation of fluid within the peritoneal cavity. The most common causes of ascites are liver disease, vascular occlusion, congestive heart failure, pericarditis or nephrotic syndrome. We present to you case series of ascites as a common presentation in women, but each case with a different etio-pathogenesis related to gynecological benign disease. This case series highlights the importance, to consider gynecological problems among the potential differential diagnoses in women with ascites for early diagnosis and timely intervention. Methods: We identified 5 female patients older than 18 years who presented with ascites as a common clinical presentation and we reviewed their medical records to assess demographic data, clinical presentation, imaging findings, co-morbid conditions, histo-pathologic features, pharmacologic therapies and surgical intervention. Results: In all the five female patients, ascites was clinically diagnosed and confirmed with ultrasound of pelvis and abdomen. One of them noted to have pelvic tuberculosis, which was confirmed with endometrial biopsy and treated with antitubercular medication. One patient was diagnosed with adenomyosis and one other patient was diagnosed with leiomyoma, both patients were treated with total abdominal hysterectomy. One of the patients was diagnosed with endometriosis on laparotomy who was treated with gonadotrophin releasing hormone analogues. One of them was diagnosed with right sided ovarian fibroma, treated with right oophorectomy. All these patients had ascites as a common clinical presentation but with different underlying gynecological etiopathogeneses. The appropriate diagnosis and timely intervention in the above 5 cases resulted in complete resolution of symptoms. Conclusion: As a healthcare worker, initial evaluation of a female patient with ascites, should rely on a detailed history and physical examination. In women with ascites, gynecologic problems should be considered among the potential differential diagnosis for appropriate management and timely intervention.

scholarly journals High-Grade Patellar Chondral Defects: Promising Results From Management With Osteochondral Autografts

2020 ◽  
Vol 8 (7) ◽  
pp. 232596712093313
Author(s):  
David Figueroa ◽  
Rafael Calvo Rodriguez ◽  
Rodrigo Donoso ◽  
Jaime Espinoza ◽  
Alex Vaisman ◽  
...  
Keyword(s):  
Magnetic Resonance ◽  
Cartilage Repair ◽  
Functional Outcomes ◽  
Cruciate Ligament ◽  
Young Patients ◽  
Case Series ◽  
High Grade ◽  
Chondral Defects ◽  
Imaging Results

Background: Patellar chondral defects represent up to 34.6% of defects found during routine arthroscopy. Surgical management has evolved during the past 20 years in an effort to develop techniques to replace hyaline cartilage. Currently, the only technique that achieves this is osteochondral autologous transfer (OAT). Although good and excellent results have often been reported at midterm and long-term follow-up for femoral lesions, little is known about isolated patellar defects. Purpose: To assess clinical and imaging results of patients treated with OAT for high-grade patellar defects. Study Design: Case series; Level of evidence, 4. Methods: This was a retrospective study on all patients who received OAT for high-grade symptomatic patellar chondral defects between 2010 and 2018 at our institution. The study included patients younger than 40 years of age with anterior knee pain and a grade 4 International Cartilage Repair Society patellar chondral defect between 1 and 2.5 cm2. Patients with surgery in other knee compartments, concomitant anterior cruciate ligament ruptures, infection, rheumatoid arthritis, and degenerative lesions were excluded. Six months postoperatively, all patients underwent magnetic resonance imaging (MRI) to allow assessment of graft integrity via the MOCART (Magnetic Resonance Observation of Cartilage Repair Tissue) score to evaluate morphologic features and integration. Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) and Kujala scores were used to assess functional outcomes at final follow-up. Results: A total of 26 patients who received a patellar OAT were included. Most patients were male (88.4%), and the mean ± SD age was 28.5 ± 9.7 years. Patellar chondral defects had a median size of 180 mm2 (range, 64-250 mm2), and patients received a median of 1 autograft (range, 1-3). Functional outcomes assessed at a minimum of 1 year after surgery showed a mean Kujala score of 90.42 ± 6.7 and a mean WOMAC score of 95 ± 3.6. MRI revealed a median MOCART score of 75 points (range, 20-90 points). Conclusion: To our knowledge, this is the largest series to date regarding isolated patellar OAT. At midterm follow-up, most patients reported good and excellent results regarding symptoms and activity levels. Most autografts showed good osseous integration and excellent filling of the chondral surface, as evidenced on MRI. OAT is a good alternative to treat high-grade patellar chondral defects, especially among young patients.

Comparison Between 18F-Dopa and 18F-Fet PET/CT in Patients with Suspicious Recurrent High Grade Glioma: A Literature Review and Our Experience

2019 ◽  
Vol 12 (3) ◽  
pp. 220-228 ◽  
Author(s):  
Laura Evangelista ◽  
Lea Cuppari ◽  
Luisa Bellu ◽  
Daniele Bertin ◽  
Mario Caccese ◽  
...  
Keyword(s):  
Case Series ◽  
High Grade Glioma ◽  
High Grade ◽  
True Negative ◽  
Fet Pet ◽  
Positron Emission ◽  
Pet Ct ◽  
Magnetic Resonance Imaging Mri ◽  
Definition Of ◽  
Sensitivity Specificity

Purpose: The aims of the present study were to: 1- critically assess the utility of L-3,4- dihydroxy-6-18Ffluoro-phenyl-alanine (18F-DOPA) and O-(2-18F-fluoroethyl)-L-tyrosine (18F-FET) Positron Emission Tomography (PET)/Computed Tomography (CT) in patients with high grade glioma (HGG) and 2- describe the results of 18F-DOPA and 18F-FET PET/CT in a case series of patients with recurrent HGG. Methods: We searched for studies using the following databases: PubMed, Web of Science and Scopus. The search terms were: glioma OR brain neoplasm and DOPA OR DOPA PET OR DOPA PET/CT and FET OR FET PET OR FET PET/CT. From a mono-institutional database, we retrospectively analyzed the 18F-DOPA and 18F-FET PET/CT of 29 patients (age: 56 ± 12 years) with suspicious for recurrent HGG. All patients underwent 18F-DOPA or 18F-FET PET/CT for a multidisciplinary decision. The final definition of recurrence was made by magnetic resonance imaging (MRI) and/or multidisciplinary decision, mainly based on the clinical data. Results: Fifty-one articles were found, of which 49 were discarded, therefore 2 studies were finally selected. In both the studies, 18F-DOPA and 18F-FET as exchangeable in clinical practice particularly for HGG patients. From our institutional experience, in 29 patients, we found that sensitivity, specificity and accuracy of 18F-DOPA PET/CT in HGG were 100% (95% confidence interval- 95%CI - 81-100%), 63% (95%CI: 39-82%) and 62% (95%CI: 39-81%), respectively. 18F-FET PET/CT was true positive in 4 and true negative in 4 patients. Sensitivity, specificity and accuracy for 18F-FET PET/CT in HGG were 100%. Conclusion: 18F-DOPA and 18F-FET PET/CT have a similar diagnostic accuracy in patients with recurrent HGG. However, 18F-DOPA PET/CT could be affected by inflammation conditions (false positive) that can alter the final results. Large comparative trials are warranted in order to better understand the utility of 18F-DOPA or 18F-FET PET/CT in patients with HGG.

scholarly journals Etiologies and clinical characteristics of young patients with angle-closure glaucoma: a 15-year single-center retrospective study

2021 ◽  
Author(s):  
Feng Gao ◽  
Jiajian Wang ◽  
Junyi Chen ◽  
Xiaolei Wang ◽  
Yuhong Chen ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Anterior Segment ◽  
Young Patients ◽  
Case Series ◽  
Neovascular Glaucoma ◽  
Angle Closure Glaucoma ◽  
Angle Closure ◽  
Primary Angle Closure Glaucoma ◽  
Uncommon Presentation ◽  
Underlying Causes

Abstract Purpose To investigate the etiologies and the clinical characteristics of angle-closure glaucoma (ACG) patients younger than 40 years old in Chinese. Methods Inpatients with diagnosis of ACG and diagnosed age younger than or equal to 40 years old, who were admitted in Eye, Ear, Nose, and Throat Hospital Fudan University from 2002 to 2017, were included in this retrospective non-comparative case series. The underlying causes and clinical features for all the patients were analyzed by comprehensive review of medical charts. Results A total of 298 patients (463 eyes) met the criteria, including 153 females (51.3%) and 145 males (48.7%); the mean age was 25.6 ± 13.0 years. Primary angle-closure glaucoma (PACG), uveitis, and anterior segment dysgenesis (ASD) were the top three etiologies in our patients, which accounted for 32.6%, 20.3%, and 15.1% of the total patients respectively. PACG mainly occurs after 30 years of age and ASD is the top reason of ACG in patients younger than 20 years old. Other known etiologies include iridocorneal endothelial syndrome, neovascular glaucoma, nanophthalmos, retinitis pigmentosa, spherophakia, bestrophinopathy, persistent fetal vasculature, iridociliary cysts, congenital retinoschisis, Marfan’s syndrome, retinopathy of prematurity, familial exudative vitreoretinopathy, congenital retinal folds, Coat’s disease, and neurofibromatosis. Conclusions We described the uncommon presentation of ACG in Chinese young patients. Although unusual, most of the etiologies could be identified. Therefore, more careful and comprehensive examinations are needed for early detection and timely treatment for young ACG patients.

Analysis of Clinical, Imaging, and Pathologic Features of 36 Patients with Primary Intraspinal Primitive Neuroectodermal Tumors: A Case Series and Literature Review

2021 ◽  
Author(s):  
Xuefeng Wei ◽  
Xu Zhang ◽  
Zimu Song ◽  
Feng Wang
Keyword(s):  
Literature Review ◽  
Single Case ◽  
Case Reports ◽  
Case Series ◽  
Subtotal Resection ◽  
Study Cohort ◽  
Primitive Neuroectodermal Tumors ◽  
Pathologic Features ◽  
Neuroectodermal Tumors ◽  
The Mean

Abstract Background and Study Aims Primary intraspinal primitive neuroectodermal tumors (PNETs) account for ∼0.4% of all intraspinal tumors, but information about these tumors in the medical literature is limited to single case reports. We report four cases of primary intraspinal PNETs and present a systematic literature review of the reported cases. Materials and Methods We retrospectively reviewed and analyzed the clinical data of 4 patients with primary intraspinal PNETs who underwent neurosurgical treatment at our clinic between January 2013 and January 2020, and of 32 cases reported in the literature. Results The female-to-male ratio was 2.6:1. The mean patient age was 21.42 ± 15.76 years (range: 1–60 years), and patients <36 years of age accounted for 83.30% of the study cohort. Progressive limb weakness and numbness were the chief symptoms (accounting for ∼55.6%). The mean complaint duration was 0.89 ± 0.66 months for males and 2.72 ± 3.82 months for females (p = 0.028). Epidural (41.7%) was the most common site, and thoracic (47.3%) was the most frequent location. Most PNETs were peripheral, and magnetic resonance imaging (MRI) appearance was isointense or mildly hypointense on T1-weighted images and hyperintense on T2-weighted images. Homogeneous contrast enhancement was observed. The 1-year survival rate of patients who underwent chemoradiation after total or subtotal lesion resection was better compared with patients who did not undergo chemotherapy, radiotherapy, or total or subtotal resection. The modality of treatment was associated with survival time (p = 0.007). Conclusion Primary intraspinal PNETs mainly occur in young people with a female preponderance. In patients with a rapid loss of lower limb muscle strength and large intraspinal lesions on MRI, PNETs should be considered. Surgical resection and adjuvant radio chemotherapy are key prognostic factors.

scholarly journals Cutaneous manifestations of COVID-19 in Mexican patients: A case series and review of literature

2021 ◽  
Vol 9 ◽  
pp. 2050313X2199719
Author(s):  
Juan Carlos Palomo-Pérez ◽  
Maria Elisa Vega-Memije ◽  
David Aguilar-Blancas ◽  
Erik González-Martínez ◽  
Lucia Rangel-Gamboa
Keyword(s):  
Respiratory Symptoms ◽  
Case Series ◽  
Signs And Symptoms ◽  
Skin Lesions ◽  
World Health ◽  
Medical Community ◽  
Atypical Pneumonia ◽  
Cutaneous Lesions ◽  
Cutaneous Manifestations ◽  
Mexican Patients

China officially recognized atypical pneumonia outbreak in December 2019; on 11 March 2020, the World Health Organization declared COVID-19 as a pandemic that is produced by a new coronavirus, named SARS-CoV-2, of rapid transmissibility, which can be asymptomatic, with mild to severe respiratory symptoms, and with cardiovascular, neurological, gastrointestinal, and cutaneous complications. Considering that the pandemic prolonged more than initially expected was prognostic, it is essential for the medical community to identify the signs and symptoms of COVID-19. Thus, this work’s objectives were to present cases of cutaneous lesions observed in COVID-19 Mexican patients. We register cutaneous lesions in COVID-19 patients referred from internal medicine and otorhinolaryngology services to dermatology. We presented four interesting cases with cutaneous lesions, including exanthema morbilliform, urticaria, chilblains, ecchymosis, and facial edema, and review the available literature. The most frequent cutaneous markers are rash, chilblains, and urticaria. Skin lesions may be the first manifestation of COVID-19, accompany initial respiratory symptoms, or appear during the disease course. Symptoms associated with vascular changes (livedo reticularis and vasculitis) are considered of poor prognosis.

Combining Microfractures, Autologous Bone Graft, and Autologous Matrix-Induced Chondrogenesis for the Treatment of Juvenile Osteochondral Talar Lesions

2017 ◽  
Vol 38 (5) ◽  
pp. 485-495 ◽  
Author(s):  
Riccardo D’Ambrosi ◽  
Camilla Maccario ◽  
Chiara Ursino ◽  
Nicola Serra ◽  
Federico Giuseppe Usuelli
Keyword(s):  
Bone Graft ◽  
Repeated Measures ◽  
Osteochondral Lesion ◽  
Young Patients ◽  
Case Series ◽  
Autologous Bone Graft ◽  
Lesion Size ◽  
Level Of Evidence ◽  
Significant Difference ◽  
Autologous Bone

Background: The purpose of this study was to evaluate the clinical and radiologic outcomes of patients younger than 20 years, treated with the arthroscopic-talus autologous matrix-induced chondrogenesis (AT-AMIC) technique and autologous bone graft for osteochondral lesion of the talus (OLT). Methods: Eleven patients under 20 years (range 13.3-20.0) underwent the AT-AMIC procedure and autologous bone graft for OLTs. Patients were evaluated preoperatively (T0) and at 6 (T1), 12 (T2), and 24 (T3) months postoperatively, using the American Orthopaedic Foot & Ankle Society Ankle and Hindfoot (AOFAS) score, the visual analog scale and the SF-12 respectively in its Mental and Physical Component Scores. Radiologic assessment included computed tomographic (CT) scan, magnetic resonance imaging (MRI) and intraoperative measurement of the lesion. A multivariate statistical analysis was performed. Results: Mean lesion size measured during surgery was 1.1 cm3 ± 0.5 cm3. We found a significant difference in clinical and radiologic parameters with analysis of variance for repeated measures ( P < .001). All clinical scores significantly improved ( P < .05) from T0 to T3. Lesion area significantly reduced from 119.1 ± 29.1 mm2 preoperatively to 77.9 ± 15.8 mm2 ( P < .05) at final follow-up as assessed by CT, and from 132.2 ± 31.3 mm2 to 85.3 ± 14.5 mm2 ( P < .05) as assessed by MRI. Moreover, we noted an important correlation between intraoperative size of the lesion and body mass index (BMI) ( P = .011). Conclusions: The technique can be considered safe and effective with early good results in young patients. Moreover, we demonstrated a significant correlation between BMI and lesion size and a significant impact of OLTs on quality of life. Level of Evidence: Level IV, retrospective case series.

scholarly journals HGG-36. HIF-2: A NEW DRUG TARGET IN PEDIATRIC HIGH-GRADE GLIOMA WITH PROMISING PRECLINICAL RESULTS

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii350-iii350
Author(s):  
Quentin Fuchs ◽  
Marina Pierrevelcin ◽  
Christophe Papin ◽  
Monique Dontenwill ◽  
Natacha Entz-Werlé
Keyword(s):  
Drug Testing ◽  
Treatment Resistance ◽  
High Grade Glioma ◽  
Clinical Work ◽  
Driver Mutations ◽  
High Grade ◽  
Innovative Strategy ◽  
Dismal Prognosis ◽  
Cell Arrest ◽  
And Migration

Abstract Pediatric high-grade gliomas (pHGGs) have a very dismal prognosis and need new innovative strategy for treatment. Despite the past discovery of histone H3 driver mutations, we are not able for instance to stop this induced epigenetic remodulation. Therefore, proactive translational studies wish to go further discovering new targetable proteins in pHGG. In our past clinical work, we were able to link significantly HIF-2alpha to a worse pHGG outcome and to their treatment resistance. We designed this new work to determine in several patient-derived cell lines (6 PDCLs) with or without H3.3 mutation the variation of HIF-2alpha, its role, its induction in normoxic and hypoxic microenvironment and its transcriptional targets using RNAseq, metabolomics and ChipSeq analyses. Complementary functional analyses were performed using siRNA strategy during cultures and migration assays. Finally, preclinical drug testing involving commercialized and non-commercialized HIF-2alpha specific inhibitors in the same PDCLs were evaluating their antiproliferative and pro-apoptotic effect. Our results confirmed the central role of HIF-2alpha in cell resistance to treatment, in pHGG stemness features and its direct link with metabolism adaptation and histone interaction. After the confirmation of its frequent presence in multiple PDCLs initiated from thalamic pHGGs and DIPG, we were using inhibitors in a single and combinatorial strategy targeting HIF-2alpha plus another hypoxia biomarker (mTor). This preclinical targeting was highly effective to favor cell arrest, apoptosis and to stop cell migration. In conclusion, HIF-2alpha seem to be a major biomarker in pHGGs that might be targeted giving a useful new opportunity for pHGG treatments.

scholarly journals Acute Pancreatitis as a Complication of Antiepileptic Treatment: Case Series and Review of the Literature

2021 ◽  
Vol 13 (1) ◽  
pp. 98-103
Author(s):  
Agnieszka Pawłowska-Kamieniak ◽  
Paulina Krawiec ◽  
Elżbieta Pac-Kożuchowska
Keyword(s):  
Valproic Acid ◽  
Acute Pancreatitis ◽  
Metabolic Disorders ◽  
Genetic Factors ◽  
Clinical Symptoms ◽  
Gallstone Disease ◽  
Young Patients ◽  
Case Series ◽  
Review Of The Literature ◽  
Acid Therapy

Acute pancreatitis (AP) appears to be rare disease in childhood. In children, it has a different aetiology and course, and requires different management than in adult patients. The diagnosis of AP is based on at least two of the three criteria, which include typical clinical symptoms, abnormalities in laboratory tests and/or imaging studies of the pancreas. There are many known causes leading to AP in children including infections, blunt abdominal trauma, genetic factors, gallstone disease, metabolic disorders, anatomical defects of the pancreas, systemic diseases, as well as drugs, including antiepileptic drugs, and especially preparations of valproic acid. In our study, we present four cases of young patients diagnosed with acute pancreatitis as a complication of valproic acid therapy and we present a review of the literature. We believe that the activity of pancreatic enzymes should be monitored in children treated with valproate preparations in the case of clinical symptoms suggesting AP.

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