scholarly journals Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different conditions of TSC1/2 genetic mutations

2020 ◽  
Author(s):  
Wenda Wang ◽  
Yang Zhao ◽  
Xu Wang ◽  
Zhan Wang ◽  
Guoyang Zheng ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Renal Cysts ◽  
Genetic Mutations ◽  
Imaging Evaluation ◽  
Female Ratio ◽  
Renal Lesions ◽  
Significant Difference ◽  
Male Female Ratio ◽  
And Function

Abstract Objective The renal manifestations of tuberous sclerosis complex (TSC) are complicated and various. We’d like to report the information of genetic mutations in TSC patients with renal lesions, and to discuss the relationship between features of renal lesions and genetic mutations, including mutant genes and mutant types. Methods TSC patients with renal lesions who came to Urology Department of our hospital from January 1st, 2015 to January 1st, 2020 were retrospectively analyzed. TSC patients who received next generation sequencing (NGS) of TSC1/2 and imaging examinations were screened out. When familial TSC patients were confirmed, only the probands were included. The patients who had imaging evaluation in our hospital before any treatment for TSC renal angiomyolipomas (AMLs) were also selected for further analysis of relationship between genetic mutations and AML sizes. Results 70 clinically or genetically diagnosed TSC patients with renal lesions were included. The average age was 29.3±8.3 years old. Male-female ratio was 1:1.5. 15 patients (21.4%) were probands of TSC families (3 TSC1 , 10 TSC2 , and 2 NMI). 67 patients (95.8%) had bilateral renal AMLs with one patient had a pathological diagnosis of epithelioid AML ( TSC2 mutation). One patient had multiple renal cysts ( TSC2 mutation), one had renal cell carcinomas (RCCs) ( TSC1 mutation) and one had Wilms tumors ( TSC1 mutation). Among the 70 included patients, 4 patients had TSC1 mutations, 51 had TSC2 mutations, and 15 had no mutation identified (NMI). There was no statistically significant difference between TSC2 mutations and NMI groups (11.4±5.7 vs. 8.0±5.6cm, P = 0.077) when considering AML sizes. There was also no statistically significant difference among AML sizes of patients with TSC2 mutation types of nonsense, missense, frameshift, slipping, and fragment deletion ( P = 0.712). And no statistically significant difference was found between maximus diameters in familial and sporadic patients, either (11.4±5.8 vs. 10.5±5.8, P = 0.663). Conclusions The conditions of TSC genetic mutations will affect type and severity of renal lesions. Other focuses such as protein structure and function need to be studied for renal manifestations. Except for patients with TSC1 and TSC2 genetic mutations, patients with NMI and familial patients are also needed more attention for the pathogenesis of them is still unknown.

Renal Manifestations of Tuberous Sclerosis Complex

2020 ◽  
Vol 7 (3) ◽  
pp. 5-19
Author(s):  
Nikhil Nair ◽  
Ronith Chakraborty ◽  
Zubin Mahajan ◽  
Aditya Sharma ◽  
Sidarth Sethi ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Gene Disruption ◽  
Treatment Guidelines ◽  
Renal Cysts ◽  
Skin Lesions ◽  
Multiple Organ ◽  
Tsc2 Gene ◽  
Genetic Condition ◽  
Organ Systems

Tuberous sclerosis complex (TSC) is a genetic condition caused by a mutation in either the TSC1 or TSC2 gene. Disruption of either of these genes leads to impaired production of hamartin or tuberin proteins, leading to the manifestation of skin lesions, tumors and seizures. TSC can manifests in multiple organ systems with the cutaneous and renal systems being the most commonly affected. These manifestations can secondarily lead to the development of hypertension, chronic kidney disease, and neurocognitive declines. The renal pathologies most commonly seen in TSC are angiomyolipoma, renal cysts and less commonly, oncocytomas. In this review, we highlight the current understanding on the renal manifestations of TSC along with current diagnosis and treatment guidelines.

scholarly journals Management of urolithiasis associated with tuberous sclerosis complex

2019 ◽  
Author(s):  
Takashi Hatano ◽  
Yu Imai ◽  
Kei-ichiro Mori ◽  
Jun Moritake ◽  
Katsuhisa Endo ◽  
...  
Keyword(s):  
Parathyroid Hormone ◽  
Specific Gravity ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Urine Specific Gravity ◽  
Intact Parathyroid Hormone ◽  
Urine Ph ◽  
Extracorporeal Shock Wave ◽  
Increased Risk ◽  
Significant Difference

Abstract The most common renal symptoms of tuberous sclerosis complex (TSC) are angiomyolipomas (AMLs) and renal cysts; however, some patients with TSC also develop urolithiasis. In this study, we evaluated the incidence, risk factors and clinical courses of TSC-associated urolithiasis. We analyzed a total of 102 patients who met the diagnostic criteria for TSC, of whom 15 (14.7%) had urolithiasis. We compared urinary specific gravity, urine pH, serum calcium, intact parathyroid hormone and the use of antiepileptic agents of the urolithiasis and non-urolithiasis groups. The urine specific gravity and urine pH were higher in the urolithiasis group than in the non-urolithiasis group (P = 0.005, P = 0.042, respectively). No significant difference was found between the two groups with regard to the serum corrected calcium and intact parathyroid hormone levels. The antiepileptic drugs topiramate and zonisamide were more frequently administered to the urolithiasis group than the non-urolithiasis group (P <0.001, P = 0.039, respectively). Four patients in the urolithiasis group underwent surgery. Three patients could not receive extracorporeal shock wave lithotripsy due to the risk of bleeding from the AML, and therefore underwent transurethral lithotripsy. If urolithiasis is comorbid with TSC-associated AML, the treatment options are more limited in cases with multiple AMLs around the stone due to an increased risk of hemorrhage. Prevention and early detection of urolithiasis are beneficial to patients with TSC.

scholarly journals Tuberous Sclerosis Complex Axis Controls Renal Extracellular Vesicle Production and Protein Content

2020 ◽  
Vol 21 (5) ◽  
pp. 1729 ◽  
Author(s):  
Fahad Zadjali ◽  
Prashant Kumar ◽  
Ying Yao ◽  
Daniel Johnson ◽  
Aristotelis Astrinidis ◽  
...  
Keyword(s):  
Protein Content ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Growth Regulation ◽  
Primary Cilia ◽  
Collecting Duct ◽  
Extracellular Vesicle ◽  
Size Exclusion ◽  
Chromatography Method ◽  
Significant Difference

The tuberous sclerosis complex (Tsc) proteins regulate the conserved mTORC1 growth regulation pathway. We identified that loss of the Tsc2 gene in mouse inner medullary collecting duct (mIMCD) cells induced a greater than two-fold increase in extracellular vesicle (EV) production compared to the same cells having an intact Tsc axis. We optimized EV isolation using a well-established size exclusion chromatography method to produce high purity EVs. Electron microscopy confirmed the purity and spherical shape of EVs. Both tunable resistive pulse sensing (TRPS) and dynamic light scattering (DLS) demonstrated that the isolated EVs possessed a heterogenous size distribution. Approximately 90% of the EVs were in the 100–250 nm size range, while approximately 10% had a size greater than 250 nm. Western blot analysis using proteins isolated from the EVs revealed the cellular proteins Alix and TSG101, the transmembrane proteins CD63, CD81, and CD9, and the primary cilia Hedgehog signaling-related protein Arl13b. Proteomic analysis of EVs identified a significant difference between the Tsc2-intact and Tsc2-deleted cell that correlated well with the increased production. The EVs may be involved in tissue homeostasis and cause disease by overproduction and altered protein content. The EVs released by renal cyst epithelia in TSC complex may serve as a tool to discover the mechanism of TSC cystogenesis and in developing potential therapeutic strategies.

scholarly journals Tuberous sclerosis complex: Hamartin and tuberin expression in renal cysts and its discordant expression in renal neoplasms

2016 ◽  
Vol 212 (11) ◽  
pp. 972-979 ◽  
Author(s):  
Stephen M. Bonsib ◽  
Christie Boils ◽  
Neriman Gokden ◽  
David Grignon ◽  
Xin Gu ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Renal Cysts ◽  
Renal Neoplasms

Reproduction and growth of the spiny lebbeid shrimp, Lebbeus groenlandicus (Fabricius, 1775) (Caridea, Hippolytidae) in the East Sea of Korea

Crustaceana ◽  
2014 ◽  
Vol 87 (11-12) ◽  
pp. 1430-1446 ◽  
Author(s):  
Ho Jin Bae ◽  
Chul-Woong Oh
Keyword(s):  
Gonadosomatic Index ◽  
Growth Function ◽  
East Sea ◽  
Breeding Period ◽  
Female Ratio ◽  
Von Bertalanffy Growth Function ◽  
Significant Difference ◽  
Male Female Ratio ◽  
Regression Slopes ◽  
Egg Stages

Reproduction and growth of the spiny lebbeid shrimp, Lebbeus groenlandicus (Fabricius, 1775), were investigated based on samples in the East Sea of Korea [= Sea of Japan], from January 2012 to April 2013. We collected 2964 shrimp samples during the study period, which included significantly more females than males (male : female ratio, 1.0 : 1.17). The females were generally larger than the males, and significant differences in the linear-regression slopes of carapace length (CL) versus body weight between the sexes indicate sex-specific differences in allometric growth. The gonadosomatic index (GSI) varied monthly, reaching a maximum in November 2012 (10.28) and a minimum in March 2013 (2.15). The proportion of ovigerous females varied from month to month. The highest values of the GSI coincided with the breeding period, and there was a significant difference between the mean GSI of females with non-eyed and those with eyed eggs, indicating that L. groenlandicus is a consecutive breeder. There was a significant correlation between CL and the number of eggs (EN) in the early egg stages. There was also a significant difference in the slopes of the regressions of CL versus EN between females carrying non-eyed and eyed egg stages. Based on the dry weights in the early egg stages, reproductive output was determined to be 0.18 ± 0.006. The Von Bertalanffy growth function parameters were CL∞ = 38.80 mm, year−1, , and WP = 0.4 for males, and CL∞ = 43.64 mm, year−1, , and WP = 0.6 for females. The growth performance index () was 2.86 for males and 2.89 for females.

scholarly journals Renal Manifestations of Tuberous Sclerosis Complex

2020 ◽  
Vol 7 (3) ◽  
pp. 5-19
Author(s):  
Nikhil Nair ◽  
Ronith Chakraborty ◽  
Zubin Mahajan ◽  
Aditya Sharma ◽  
Sidharth K. Sethi ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Gene Disruption ◽  
Treatment Guidelines ◽  
Renal Cysts ◽  
Skin Lesions ◽  
Multiple Organ ◽  
Tsc2 Gene ◽  
Genetic Condition ◽  
Organ Systems

Tuberous sclerosis complex (TSC) is a genetic condition caused by a mutation in either the TSC1 or TSC2 gene. Disruption of either of these genes leads to impaired production of hamartin or tuberin proteins, leading to the manifestation of skin lesions, tumors, and seizures. TSC can manifest in multiple organ systems with the cutaneous and renal systems being the most commonly affected. These manifestations can secondarily lead to the development of hypertension, chronic kidney disease, and neurocognitive declines. The renal pathologies most commonly seen in TSC are angiomyolipoma, renal cysts, and less commonly, oncocytomas. In this review, we highlight the current understanding on the renal manifestations of TSC along with current diagnosis and treatment guidelines.

scholarly journals Common Eye Diseases in Children in Saudi Arabia (Jazan)

2016 ◽  
Vol 8 ◽  
pp. OED.S39055 ◽  
Author(s):  
Abdulrahman Darraj ◽  
Walid Barakat ◽  
Mona Kenani ◽  
Reem Shajry ◽  
Abdullah Khawaji ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Ocular Trauma ◽  
Eye Diseases ◽  
P Value ◽  
Female Ratio ◽  
Root Cause ◽  
Significant Difference ◽  
Male Female Ratio ◽  
Chi Squared ◽  
The Common

Background The rise in childhood eye diseases has become a matter of concern in Saudi Arabia, and hence a study has been conducted on the residents of Jazan. The aim of the research was to find out the root cause of such issues and provide a solution to prevent such circumstances for it may affect the vision of children. In this study, therefore, we aimed to determine the types of childhood eye diseases in Jazan and to discuss the best ways to prevent them or prevent their effect on the vision of our children. Our institutions are working toward the longevity and welfare of the residents, and healthcare is one of the important aspects in such a field. Methods This is a retrospective review of all patients less than 18 years of age who presented to the pediatric ophthalmology clinic of Prince Mohammed Bin Nasser Hospital, Jazan, between October 2014 and October 2015. The data, collected on 385 cases, included the age at first presentation, sex, clinical diagnosis, refractive error (RE) if present, and whether the child had amblyopia. If the child did not undergo complete ophthalmic examination with cycloplegic refraction, he/she was excluded. All data were collected and analyzed using the software SPSS. A P-value < 0.05 was considered statistically significant. Results We reviewed the files of 385 children, with a male/female ratio of 1.1:1.0. The group aged 0–6 years made up the largest group ( P = 0.01), and the ratio is an expression to define the credibility of the study using a chi-squared test. Strabismus (36.9%), RE (26.5%), ocular trauma (7.5%), infection of cornea and conjunctiva (7.3%), and keratoconus (6.2%) were the most common conditions. There was no significant difference in presentation by age group and sex among children with REs and squint. Trauma was seen more commonly among males and in the group aged 12–18 years. Conclusion In this retrospective study, the focus was on the common childhood eye diseases that were considerably high. Hypermetropia was the predominant RE, which is in contrast to other studies where myopia was more common. However, it is important to promote public education on the significance of early detection of strabismus, REs, and amblyopia and have periodic screening in schools. The discussion of the various issues is aimed at increasing the awareness and building a support for the cause by creating the knowledge base to treat things on time and acknowledging the severity of the issues.

Association between the growth rate of renal cysts/angiomyolipomas and age in the patients with tuberous sclerosis complex

2014 ◽  
Vol 46 (9) ◽  
pp. 1685-1690 ◽  
Author(s):  
Jeng-Dau Tsai ◽  
Chang-Ching Wei ◽  
Shan-Ming Chen ◽  
Ko-Huang Lue ◽  
Ji-Nan Sheu
Keyword(s):  
Growth Rate ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Renal Cysts

scholarly journals The Relationship of Amount of Resection and Time for Recovery of Bell’s Phenomenon after Levator Resection in Congenital Ptosis

2017 ◽  
Vol 11 (1) ◽  
pp. 24-30 ◽  
Author(s):  
Ruchi Goel ◽  
Divya Kishore ◽  
Smriti Nagpal ◽  
Sparshi Jain ◽  
Tushar Agarwal
Keyword(s):  
Care Center ◽  
Tertiary Care ◽  
Close Monitoring ◽  
Female Ratio ◽  
Exact Test ◽  
Significant Difference ◽  
Levator Resection ◽  
Male Female Ratio ◽  
Bell's Phenomenon ◽  
Bell’S Phenomenon

Background: Recovery of Bell`s phenomenon after levator resection is unpredicatable. Delayed recovery can result in vision threatening corneal complications. Aim: To study the variability of Bell’s phenomenon and time taken for its recovery following levator resection for blepharoptosis and to correlate it with the amount of resection. Methods: A prospective observational study was conducted on 32 eyes of 32 patients diagnosed as unilateral simple congenital blepharoptosis who underwent levator resection at a tertiary care center between July 2013 and May 2015. Patients were followed up for 5 months and correction of ptosis, type of Bell`s, duration of Bell`s recovery and complications were noted. Results: The study group ranged from 16-25 years with 15:17 male: female ratio. There were 9 mild, 16 moderate and 7 severe ptosis. Satisfactory correction was achieved in all cases. Good Bell`s recovery occurred in 13 eyes on first post-op day, in 2-14 days in 19 eyes and 28 days in 1 eye. Inverse Bell`s was noted along with lid oedema and ecchymosis in 2 patients. Large resections (23-26mm) were associated with poor Bell`s on the first postoperative day (p=0.027, Fisher`s exact test). However, the duration required for recovery of Bell`s phenomenon did not show any significant difference with the amount of resection. (p=0.248, Mann Whitney test). Larger resections resulted in greater lagophthalmos (correlation=0.830, p<0.0001). Patients with recovery of Bell`s delayed for more than 7 days were associated with greater number of complications (p=0.001 Fisher`s Exact Test). Conclusion: Close monitoring for Bell`s recovery is required following levator resection.

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