scholarly journals A single-center analysis of clinical features of 145 tuberous sclerosis complex—associated renal angiomyolipoma cases in China

2020 ◽  
Author(s):  
Xu Wang ◽  
Yang Zhao ◽  
Wenda Wang ◽  
Zhan Wang ◽  
Yushi Zhang
Keyword(s):  
Tuberous Sclerosis ◽  
Clinical Features ◽  
Tuberous Sclerosis Complex ◽  
Clinical Manifestations ◽  
Renal Angiomyolipoma ◽  
Age Group ◽  
Gender Distribution ◽  
Female Ratio ◽  
Number Of Patients ◽  
Subependymal Nodules

Abstract Background: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease with multiple organ system involvement. Renal angiomyolipoma (RAML) is a leading cause of death in TSC-adult patients. The aim of the study was to investigate the clinical features of tuberous sclerosis-associated renal angiomyolipoma among Chinese population so that clinicians can make better clinical diagnosis.Methods: Retrospective review of clinical data of 145 patients with tuberous sclerosis-associated renal angiomyolipoma treated in the Department of Urology, Peking Union Medical College Hospital from January 2014 to January 2019. Analysis of age and gender distribution, tumor stage, and combined clinical manifestations. All analyses used a significance level of 0.05 and were presented in SPSS23.0 software.Results: A total of 145 patients were enrolled. There were 51 males and 94 females. The male to female ratio was 1:1.84, with mean age of 30.50±9.79 years (range 7-58 years). 92 cases were mainly distributed in 21-40 age group, accounting for 63.45%. Among all 6 age groups, 21-30 age group contained the largest number of patients(48 case，33.10%). 86 (59.31%) renal angiomyolipoma cases were classified stage 6; 19 cases had a history of tumor rupture and hemorrhage, including 7 selective arterial embolization, 8 partial nephrectomy and 4 nephrectomy. Subependymal nodules (104/122cases, 85.24%), angiofibromas /fibrous cephalic plaque (121 cases, 83.44%), hypomelanotic macules (89 cases, 61.39%), shagreen patch (65 cases, 44.83%) and ungual fibromas (62 cases, 42.07%) were the main combined clinical manifestation. 91.30% (42/46) lymphangioleiomyomatosis cases were female.Conclusion: Patients with TSC-RAML were mainly young and middle-aged females with giant Angiomyolipoma. Most tumor were ranged in stage 5 and 6. Nervous system characteristics (subependymal nodules), dermatological lesions (angiofibromas or fibrous cephalic plaque, hypomelanotic macules, shagreen patch and ungual fibromas) were common combined clinical manifestations. Lymphangioleiomyomatosis showed an obvious difference in gender distribution

scholarly journals Sporadic multiple renal angiomyolipoma with lymph node involvement: a case report and literature review

2021 ◽  
Vol 49 (3) ◽  
pp. 030006052110017
Author(s):  
Xiaobo Ding ◽  
Meizi Cui ◽  
Tiejun Wang ◽  
Helei Wang ◽  
Xinyu Wang ◽  
...  
Keyword(s):  
Lymph Node ◽  
Tuberous Sclerosis ◽  
Partial Nephrectomy ◽  
Tuberous Sclerosis Complex ◽  
Radical Nephrectomy ◽  
Vena Cava ◽  
Clinical Manifestations ◽  
Lymph Node Involvement ◽  
Renal Angiomyolipoma ◽  
Node Involvement

Angiomyolipoma (AML) is a benign tumor that mainly occurs in the kidneys. Simultaneous involvement of the kidney and local regional lymph nodes is very rare and might be misdiagnosed as a metastasizing malignant cancer. In the present study, a 50-year-old woman was referred to our hospital after a routine health screening ultrasound. Sporadic multiple renal AML with lymph node involvement was suspected based on the clinical manifestations and radiologic features. Partial nephrectomy was performed and a para-inferior vena cava lymph node was removed. The pathologic results confirmed multiple AML with lymph node invasion. We also reviewed the English-language literature regarding renal AML with lymph node involvement. We found that middle-aged women were likely to develop this disease and that loin pain was the main presenting feature. Most patients had no history of tuberous sclerosis complex. Radical nephrectomy was the predominant treatment. No local recurrence or distant metastasis occurred in any patients after radical nephrectomy or partial nephrectomy. In conclusion, renal AML with lymph node involvement is rare but can occur in both patients with tuberous sclerosis complex and those with multiple sporadic AML. Partial nephrectomy should be the first-line treatment, after which further treatment is not necessary.

Issues of geriatric otolaryngologic emergency have not been widely applied despite increase in geriatric population. (Preprint)

2019 ◽  
Author(s):  
Waheed Atilade Adegbiji ◽  
Shuaib Kayode Aremu ◽  
AbdulAkeem Adebayo Aluko
Keyword(s):  
Foreign Body ◽  
Head And Neck ◽  
Clinical Features ◽  
University Teaching ◽  
Age Group ◽  
Geriatric Population ◽  
Female Ratio ◽  
Common Diagnosis ◽  
Foreign Body Impaction ◽  
Nose And Throat

BACKGROUND Issues of geriatric otolaryngologic emergency have not been widely applied despite increase in geriatric population. OBJECTIVE This study aimed at determining prevalence, sociodemographic features, aetiology, clinical features, Complications and sources ofreferral of geriatric otorhinolaryngological, head and neck emergency in our center. METHODS This was a prospective hospital based study of geriatric otorhinolaryngology emergency in the Ear, Nose and Throat Department of Ekiti State University Teaching Hospital. The study was carried out between October 2016 and September 2018. Data were obtained by using pretested interviewers questionnaire.All data were collated and analyzed using SPSS version 18.0. The data were expressed by frequency table, percentage, bar charts and pie charts. RESULTS Geriatric otorhinolaryngology, head and neck emergency accounted for 5.3%. Major prevalence age group was 43.9% in the age group (60-64). There were 38.6% males with male to female ratio of 1:1.5. The main aetiology of geriatric otorhinolaryngology emergency was 29.5% trauma/road traffic accident/foreign body impaction and 25.8% tumour. Main anatomical distribution of geriatric otorhinolaryngology emergency were 38.6% throat diseases and 31.1% ear diseases. The most frequent clinical features were pain in 27.3%, hearing loss in 21.2%, tinnitus in 15.9%, bleeding in 14.4%, difficulty breathing in 12.9% and discharge in 11.4%. Common diagnosis in this study were 15.9% sinonasal tumour, 14.4% upper aerodigestive foreign body impaction, 10.6% earwax impaction and 19.8% otitis externa. Acute presentation (<13 weeks) occurred in 1 week in 74.2% and 2-13 weeks In 19.7%. Commonest time of presentation was daytime in 65.9%. Major sources of referral were 43.2% general practitioner and 31.1% casualty officers. Presentation of geriatric otorhinolaryngology emergency were mainly ear, nose and throat clinic in 59.8% with accident and emergency in 28.8%. Commonest associated comorbid illnesses among the geriatric patients were 18.2% hypertension, 14.4% arthritis and 9.8% diabetes mellitus. CONCLUSIONS Geriatric otorhinolaryngological emergency are common pathology with associated with comorbid illnesses. Detailed clinical assessment are mandatory for effective management outcome.

scholarly journals High-throughput screening of circRNAs reveals novel mechanisms of tuberous sclerosis complex-related renal angiomyolipoma

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Yang Zhao ◽  
Hao Guo ◽  
Wenda Wang ◽  
Guoyang Zheng ◽  
Zhan Wang ◽  
...  
Keyword(s):  
Lipid Metabolism ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Regulatory Network ◽  
High Throughput Screening ◽  
Kidney Tissue ◽  
Cell Types ◽  
The Body ◽  
Differentially Expressed ◽  
Renal Angiomyolipoma

Abstract Objective Tuberous sclerosis complex (TSC) is a rare autosomal dominant disease characterized by lesions throughout the body. Our previous study showed the abnormal up-regulation of miRNAs plays an important part in the pathogenesis of TSC-related renal angiomyolipoma (TSC-RAML). circRNAs were known as important regulators of miRNA, but little is known about the circRNAs in TSC-RAMLs. Methods Microarray chips and RNA sequencing were used to identify the circRNAs and mRNAs that were differently expressed between the TSC-RAML and normal kidney tissue. A competitive endogenous RNA (ceRNA) regulatory network was constructed to reveal the regulation of miRNAs and mRNAs by the circRNAs. The biological functions of circRNA and mRNA were analyzed by pathway analysis. Microenvironmental cell types were estimated with the MCP-counter package. Results We identified 491 differentially expressed circRNAs (DECs) and 212 differentially expressed genes (DEGs), and 6 DECs were further confirmed by q-PCR. A ceRNA regulatory network which included 6 DECs, 5 miRNAs, and 63 mRNAs was established. Lipid biosynthetic process was significantly up-regulated in TSC-RAML, and the humoral immune response and the leukocyte chemotaxis pathway were found to be down-regulated. Fibroblasts are enriched in TSC-RAML, and the up-regulation of circRNA_000799 and circRNA_025332 may be significantly correlated to the infiltration of the fibroblasts. Conclusion circRNAs may regulate the lipid metabolism of TSC-RAML by regulation of the miRNAs. Fibroblasts are enriched in TSC-RAMLs, and the population of fibroblast may be related to the alteration of circRNAs of TSC-RAML. Lipid metabolism in fibroblasts is a potential treatment target for TSC-RAML.

Clinical, cellular, and molecular characterisation of cardiac rhabdomyoma in tuberous sclerosis

2021 ◽  
pp. 1-9
Author(s):  
Hamood N. Al Kindi ◽  
Ayman M. Ibrahim ◽  
Mohamed Roshdy ◽  
Besra S. Abdelghany ◽  
Dina Yehia ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Clinical Features ◽  
Tuberous Sclerosis Complex ◽  
Potential Role ◽  
Severe Disease ◽  
Cardiac Rhabdomyoma ◽  
Urgent Surgery ◽  
Pathogenic Mutations ◽  
Personalised Treatment

Abstract Background: Rhabdomyoma is the most common cardiac tumour in children. It is usually associated with tuberous sclerosis complex caused by mutations in TSC-1 or TSC-2 genes. This tumour typically regresses by unknown mechanisms; however, it may cause inflow or outflow obstruction that necessitates urgent surgery. Here we investigate the clinical features and the genetic analysis of patients with tuberous sclerosis complex presenting with large rhabdomyoma tumours. We also investigate the potential role of autophagy and apoptosis in the pathogenesis of this tumour. Methods: All the patients with cardiac rhabdomyoma referred to Aswan Heart Centre from 2010 to 2018 were included in this study. Sanger sequencing was performed for coding exons and the flanking intronic regions of TSC1 and TSC2 genes. Histopathological evaluation, immunohistochemistry, and western blotting were performed with P62, LC3b, caspase3, and caspase7, to evaluate autophagic and apoptotic signaling. Results: Five patients were included and had the clinical features of tuberous sclerosis complex. Three patients, who were having obstructive tumours, were found to have pathogenic mutations in TSC-2. The expression of two autophagic markers, P62 and LC3b, and two apoptotic markers, caspase3 and caspase7, were increased in the tumour cells compared to normal surrounding myocardial tissue. Conclusion: All the patients with rhabdomyoma were diagnosed to have tuberous sclerosis complex. The patients who had pathogenic mutations in the TSC-2 gene had a severe disease form necessitating urgent intervention. We also demonstrate the potential role of autophagy and apoptosis as a possible mechanism for tumourigenesis and regression. Future studies will help in designing personalised treatment for cardiac rhabdomyoma.

scholarly journals RARE-25. RETINAL ASTROCYTOMA mTOR INHIBITOR THERAPY IN TUBEROUS SCLEROSIS MOSAICISM

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii447-iii447
Author(s):  
Naomi Evans ◽  
Katherine Paton ◽  
Harinder Kaur Gill ◽  
Juliette Hukin
Keyword(s):  
Optic Nerve ◽  
Retinal Detachment ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Mtor Inhibitor ◽  
Mammalian Target Of Rapamycin ◽  
Neovascular Glaucoma ◽  
Renal Angiomyolipoma ◽  
Gradual Reduction ◽  
Health Canada

Abstract INTRODUCTION Everolimus is an inhibitor of mTORC1 (mammalian target of rapamycin complex 1), it is Health Canada and FDA approved for SEGA and renal angiomyolipoma in the setting of tuberous sclerosis complex (TSC). There is little data available in regards to this treatment of TSC associated retinal astrocytoma (RA). Although the behaviour of RA is often indolent or slowly progressive, aggressive behaviour with retinal detachment and neovascular glaucoma requiring enucleation has been reported in several patients. Definite TSC diagnosis is established when either two major features or one major and two minor features are present. Probable TSC diagnosis is established when one major plus one minor feature is present. METHODS We report a child with probable TSC mosaicism, with negative serum NGS for TSC but RA and retinal achromic patch on the left. A left retinal peripapillary astrocytoma around optic nerve and very close to fovea was noted. There was concern that if it grew or there were to be any leakage it would cause visual impairment. This lead to therapy with everolimus 4.5 mg/m2/d aiming for level between 5 and 10 mcg/L. RESULTS This boy has had a gradual reduction of the RA over the last 29 months, with healthy retina in the region no longer occupied by the lesion and preserved vision. He has tolerated therapy well with occasional mouth ulcers. CONCLUSION mTORC1 inhibition is effective therapy to preserve vision in the setting of retinal astrocytoma and tuberous sclerosis mosaicism.

scholarly journals Lymphangioleiomyomatosis (LAM) presenting as recurrent pneumothorax in an infant with tuberous sclerosis: treated successfully with sirolimus

2018 ◽  
pp. bcr-2018-226244
Author(s):  
Lalit Takia ◽  
Kana Ram Jat ◽  
Anirban Mandal ◽  
Sushil Kumar Kabra
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Right Atrial ◽  
Age Group ◽  
Bilateral Pneumothorax ◽  
General Physical Examination ◽  
Paediatric Age ◽  
Cortical Tubers ◽  
General Physical ◽  
Multiple Cysts

Lymphangioleiomyomatosis (LAM) either sporadic or a part of tuberous sclerosis complex is rare in paediatric age group. Here, we report a case of LAM with tuberous sclerosis in an infant. She was referred to our institute at the age of 4 months as a case of recurrent bilateral pneumothorax requiring intercostal tube drainage. Detailed history revealed that patient was symptomatic since 1 month of age in the form of seizures. She had respiratory symptoms for last 15 days. General physical examination revealed whitish macular patches. Brain imaging was suggestive of cortical tubers and subependymal nodules. The echocardiography showed right atrial rhabdomyoma. Chest CT revealed multiple cysts suggesting LAM. On the basis of above findings, a diagnosis of tuberous sclerosis complex with LAM was made. The infant was started on sirolimus and there was significant clinical and radiological improvement over a period of 2 and half years without any side effects.

scholarly journals Clinical Profile of Patients Presenting with Carcinoma Stomach in North-East District of Bangladesh

2014 ◽  
Vol 15 (2) ◽  
pp. 118-121
Author(s):  
Aparna Das ◽  
Modhusudan Saha ◽  
Bimal Chandra Shil ◽  
Rubina Yasmin ◽  
Gobinda Banik ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Metastatic Lymph Node ◽  
Outlet Obstruction ◽  
Western World ◽  
Age Group ◽  
Female Ratio ◽  
Upper Gi ◽  
North East ◽  
Number Of Patients ◽  
Carcinoma Stomach

Background: The pattern and incidence of Carcinoma Stomach vary widely in different parts of the world. Overall it is the 2nd most common cause of death but in some Asian countries, it is still the commonest cause of cancer death in patients of > 50 years.Aim: To analyze the clinical presentation and histological findings of patients of carcinoma of the stomach. Methods and materials: This study was done over a period of 2 years between January 2011 and December 2012. Adult patients (Age more than 18 years) of histologically confirmed as having carcinoma stomach were included in the study. Studied variables included age, gender, socioeconomic status, clinical presentations, site of lesion, histopathological subtypes. Diagnostic modalities included abdominal ultrasound, upper GI (gastrointestinal) endoscopy and endoscopic biopsy to confirm the diagnosis. Results: Total number of patients included in this study was 150. The number of patients in <50 years age group and >50 years age group were 50 (33.33%) & 100 (66.66%) respectively. The median age at presentation was 57 years. The peak incidence was in 61-70 years age group. In our study,male: female ratio being 2.3:1. By occupation, farmer 74 (49%), housewife 37(24.6%), serviceholder12(8%), business man 5(10%) and others12 (8%). 71 (47.4%) patients were from lower socioeconomic group, middle74 (49.4%), upper class 5 (3.4%) & only 63 (42%) were literate. The common clinical features were vomiting 28%, abdominal pain 18%, weight loss and anorexia 17.3% , dyspepsia 16% , Anaemia (26% ), Abdominal mass 4%, Metastatic lymph node 4%, Ascites 1.3%. lesions are involved in Cardia 14%, Body &Antrum 6.6%, Antrum 2.6%, Body 23.3%, Fundus 2% and Diffusely in 1.3% cases. Conclusion: As regards to clinical presentation, patients in our country are presenting more with features of gastric outlet obstruction whereas abdominal lump and upper GI bleeding are more common in Western world. If gastric carcinoma is diagnosed at an early stage, patients can have a highly favorable prognosis.DOI: http://dx.doi.org/10.3329/jom.v15i2.20683 J MEDICINE 2014; 15 : 118-121

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