Article
Genetics & Heredity
Nianyi Zhang, Xiaofang Wang, Zengqi Tang, Xiaonan Qiu, Zhixuan Guo, Danqi Huang, Hui Xiong, Qing Guo
Summary: This study found that female TSC patients are more likely to develop renal angiomyolipoma than male patients; missense mutation of TSC1 leads to a higher risk of renal angiomyolipoma, whereas frameshift mutation shows a reduced risk; patients with TSC2 mutations in the transcription activation domain 1 coding genes have an increased risk of renal angiomyolipoma.
FRONTIERS IN GENETICS
(2021)
Article
Medicine, General & Internal
Soyoung Ryu, Hoon-Chul Kang, Sung Chul Lee, Suk Ho Byeon, Sung Soo Kim, Christopher Seungkyu Lee
Summary: The purpose of this study was to examine refractive errors, retinal manifestations, and genotype in tuberous sclerosis complex (TSC) patients in a Korean population. A total of 98 TSC patients were enrolled in a retrospective cohort study. The findings showed that TSC1 variant patients were more myopic, while TSC2 variant patients showed association with more extensive involvement of retinal astrocytic hamartoma.
YONSEI MEDICAL JOURNAL
(2023)
Article
Biochemistry & Molecular Biology
Sumihito Togi, Hiroki Ura, Hisayo Hatanaka, Yo Niida
Summary: This study analyzed genotype and phenotype of TSC in Japanese patients and found differences in lesions and symptoms between TSC1 and TSC2 patients. It also revealed that 20% of parents of a proband may have mild TSC and more mild neuropsychiatric phenotypes were diagnosed in Japan.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Samuel Y. L. Ng, Ho-Ming Luk, Edgar W. L. Hau, Shirley S. W. Cheng, Kris P. T. Yu, Stephanie Ho, Myth T. S. Mok, Ivan F. M. Lo
Summary: This study analyzed mutations in 123 Chinese patients with TSC and found that most patients had pathogenic/likely-pathogenic variants, with some phenotypic differences between TSC1 and TSC2. Subependymal nodules were more common in males, while renal angiomyolipoma occurred predominantly in females. Sporadic cases showed a higher frequency of renal angiomyolipoma and other symptoms. The study also found that TSC2 variants were associated with mental retardation and other phenotypic features.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2022)
Article
Cell Biology
Chen-Xi Zhang, Kai-Feng Xu, Qin Long, Xiao Zhang, Zhi-Kun Yang, Rong-Ping Dai, Zhi-Qiao Zhang
Summary: Sirolimus has been shown to effectively reduce the size of TSC-associated RAH in the long term, possibly preventing tumor regrowth. However, treatment with Sirolimus can lead to adverse events such as mouth ulceration and acne.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Genetics & Heredity
Cong Luo, Ye Zhang, Yu-shi Zhang, Ming-Xin Zhang, Jun Ning, Min-Feng Chen, Yuan Li, Lin Qi, Xiong-Bing Zu, Yang-Le Li, Yi Cai
Summary: This study examines the relationship between genotype and renal phenotype in a Chinese cohort with Tuberous Sclerosis Complex (TSC) and provides guidance for clinical decision-making. The results showed that patients with TSC2 variants are more likely to develop severe renal angiomyolipomas (AML) and require nephrectomy/partial nephrectomy or mTOR medication.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Medicine, General & Internal
Anna B. Marcinkowska, Sergiusz Jozwiak, Agnieszka Tarasewicz, Alicja Debska-Slizien, Edyta Szurowska
Summary: This study aimed to describe the neuropsychiatric profile of adults with Tuberous Sclerosis Complex (TSC) and found that TSC-associated neuropsychiatric disorders (TANDs) are common in adults with TSC and are often underdiagnosed. It revealed that most individuals with TSC present multiple behavioral and cognitive problems. Patients with intellectual disability and epilepsy had more neuropsychiatric problems than those without epilepsy. The study emphasizes the importance of wide dissemination and application of TAND screening for early identification, prevention, and rehabilitation of difficulties in TSC patients.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Genetics & Heredity
David M. Ritter, Bailey K. Fessler, Daniel Ebrahimi-Fakhari, Jun Wei, David N. Franz, Darcy A. Krueger, Andrew T. Trout, Alexander J. Towbin
Summary: This study categorized the clinical reads of 1398 thoracoabdominal scans from 649 patients with TSC and found many common and rare findings. Female sex, TSC2 mutation, and age are risk factors for thoracoabdominal findings. The results suggest the importance of detailed thoracoabdominal imaging in patients with TSC.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Dermatology
Weilong Zhong, Linghan Hu, Xu Cao, Jiahui Zhao, Xianning Zhang, Mingyang Lee, Huijun Wang, Jie Zhang, Quan Chen, Cheng Feng, Lina Duo, Xiuli Wang, Li Tang, Zhimiao Lin, Yong Yang
Summary: The study identified new and recurrent variations in the TRPV3 gene in patients with Olmsted syndrome, finding that variations in specific regions of the gene significantly enhance channel function and lead to severe phenotypes, while other variations have milder effects.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2021)
Review
Cell Biology
Avigail Beryozkin, Hamzah Aweidah, Roque Daniel Carrero Valenzuela, Myriam Berman, Oscar Iguzquiza, Frans P. M. Cremers, Muhammad Imran Khan, Anand Swaroop, Radgonde Amer, Samer Khateb, Tamar Ben-Yosef, Dror Sharon, Eyal Banin
Summary: Mutations in the RPGRIP1 gene lead to a spectrum of retinal diseases, with most patients showing early onset, visual impairment, and retinal degeneration. The majority of mutations are null mutations, while missense mutations tend to result in a milder disease presentation.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Genetics & Heredity
Laura S. Farach, Hope Northrup, Mark Nellist, Leontine van Unen, Paul Hillman, Katarzyna Klonowska, Rosemary Ekong, Peter B. Crino, Kit Sing Au
Summary: With advances in genetic testing, noninvasive prenatal screening (NIPS) allows the identification of potential pathogenic DNA variants before the onset of disease phenotype. In this study, a TSC2 frameshift variant was identified by NIPS and detected in family members without typical symptoms of TSC. Further investigation revealed that this variant retained TSC2 function through cryptic splicing.
Article
Genetics & Heredity
Matthias Sauter, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume B. D'Augeres, Petrus J. de Vries, Jose C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna Jansen, J. Chris Kingswood
Summary: Rare manifestations and malignancies are relatively rare in patients with Tuberous sclerosis complex (TSC), but some rare symptoms and tumors are more common in adults. There is an association between TSC2 gene mutations and rare manifestations and malignancies.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Endocrinology & Metabolism
Peng Tang, Jun Zhang, Song Peng, Yapeng Wang, Haoyang Li, Ze Wang, Yao Zhang, Yiqiang Huang, Jing Xu, Dianzheng Zhang, Qiuli Liu, Luofu Wang, Weihua Lan, Jun Jiang
Summary: 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia. This study analyzed 15 patients from three families and found that different phenotypes were caused by different CYP21A2 mutations. Gender and mutation type influence the phenotypes, and genetic analysis can aid in the diagnosis of atypical 21-hydroxylase deficiency patients.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Kailash Ramlaul, Wencheng Fu, Hua Li, Natalia de Martin Garrido, Lin He, Manjari Trivedi, Wei Cui, Christopher H. S. Aylett, Geng Wu
Summary: The Tuberous Sclerosis Complex (TSC) protein complex (TSCC) is crucial for cell growth and stress signal integration upstream of mTORC1, by acting as a GAP towards Rheb. TSCC has a scorpion-like structure consisting of TSC1 and TSC2, with complex architecture and topology, suggesting a potential role in Rheb-signalling suppression through functional oligomerization.
JOURNAL OF MOLECULAR BIOLOGY
(2021)
Article
Dermatology
A. M. Cartron, D. Buccine, A. M. Treichel, C. R. Lee, J. Moss, T. N. Darling
Summary: MiF are common skin lesions in TSC patients, mainly located on the back as skin-colored papules. Histological features include dermal expansion and hamartomatous abnormalities. MiF differ from other TSC skin lesions, and recognizing MiF helps define the spectrum of TSC disease.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2021)
Article
Ophthalmology
Jose J. Echegaray, Yahya A. Al-Zahrani, Arun Singh
BRITISH JOURNAL OF OPHTHALMOLOGY
(2020)
Article
Ophthalmology
Renato Jose Yupari, James Bena, Allan Wilkinson, John Suh, Arun Singh
Summary: This study evaluated the outcomes of small choroidal melanoma treated with iodine-125 episcleral brachytherapy, showing that most patients retained good visual acuity, high local control, and ocular survival rate at 3 years without metastasis.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2021)
Article
Ophthalmology
Nakul Singh, Rahul Singh, Randy Chris Bowen, Mohamed H. Abdel-Rahman, Arun D. Singh
Summary: This study aimed to estimate the point prevalence of uveal melanoma in patients with germline BAP1 pathogenic variants, finding the prevalence to be 2.8% in the US population. It was also observed that uveal melanoma patients with BAP1 germline pathogenic variants had a lower average age at diagnosis.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2021)
Article
Ophthalmology
Hansell Soto, Randy C. Bowen, Vishal Raval, Gabrielle Yeaney, Arun Singh
Summary: This study assessed the role of map biopsy in patients with conjunctival primary acquired melanosis (PAM)/melanoma. The results showed that map biopsy enhances the overall assessment of the extent of the disease and impacts the use of topical chemotherapy.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2022)
Article
Ophthalmology
Randy C. Bowen, Hansell Soto, Vishal Raval, Claudine Bellerive, Gabrielle Yeaney, Arun D. Singh
Summary: Excision with a 2 mm margin and cryotherapy for ocular surface squamous neoplasia showed low rates of positive margins and local recurrence, with feasible conjunctival repair without grafts. Adjuvant topical therapy effectively prevented recurrence even in cases with positive margins, conserving the conjunctiva and minimizing the need for additional surgeries.
Review
Ophthalmology
Sari Yordi, Hansell Soto, Randy C. Bowen, Arun D. Singh
Summary: The meta-analysis suggests that photodynamic therapy may be an effective primary treatment for small choroidal melanoma, especially in cases without pigmentation, with an overall response rate of 80%. However, artifacts in study design may have contributed to the variable observed response rate, highlighting the need for further research with uniform inclusion criteria and standardized treatment parameters.
SURVEY OF OPHTHALMOLOGY
(2021)
Article
Multidisciplinary Sciences
Tomas Radivoyevitch, Emily C. Zabor, Arun D. Singh
Summary: The long-term survival of uveal melanoma patients in the US was compared using different methods, finding that death due to melanoma became rare beyond 20 years with normal life expectancy reached at 25 years after primary therapy. Relative survival methods provide more realistic estimates by comparing the survival to that of a normal matched population.
Review
Ophthalmology
Vishal Raval, Elaine Binkley, Mary E. Aronow, Juan Valenzuela, David M. Peereboom, Arun D. Singh
Summary: PCNSL-O is an ocular subset of PCNSL that primarily targets the retina and vitreous. The treatment goals are to achieve local control in the eye and prevent further progression in the central nervous system. While intravitreal agents can effectively control the ocular manifestations, the overall survival rate remains low.
SURVEY OF OPHTHALMOLOGY
(2021)
Article
Ophthalmology
Arun D. Singh, Vishal Raval, Jacquelyn Wrenn, Emily C. Zabor
Summary: This study aimed to quantify potential loss of vision and freedom from metastasis in patients with small choroidal melanoma treated after a period of surveillance. The results showed that low-risk choroidal melanoma identified by the prediction model can be managed by surveillance to document growth before receiving vision-threatening treatment without increased risk of metastatic death.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2022)
Article
Genetics & Heredity
Alkiviades Liasis, Manuel Paez-Escamilla, Jessi Gruszewski, Arun D. Singh, Ken K. Nischal
Summary: This study describes a patient with retinoblastoma who developed maculopathy unrelated to the tumor but related to intra-arterial melphalan. The findings suggest that pattern electroretinography (pERG), using skin electrodes when corneal electrodes are not tolerated, should be used to monitor baseline macular function and potential toxicity during chemotherapy in children with retinoblastoma.
OPHTHALMIC GENETICS
(2023)
Article
Ophthalmology
Guneet S. Sodhi, Nakul Singh, Jacquelyn Wrenn, Arun D. Singh
Summary: This study identified non-overlapping diagnostic features between peripheral exudative hemorrhagic chorioretinopathy (PEHCR) and choroidal melanoma by comparing their ophthalmoscopic and imaging features. The presence of hemorrhagic pigment epithelial detachment (PED) and lipid exudation were found to be specific for PEHCR, while the presence of orange pigment and choroidal excavation were specific for choroidal melanoma.
OCULAR ONCOLOGY AND PATHOLOGY
(2023)
Editorial Material
Ophthalmology
Yagmur Seda Yesiltas, Zackery Oakey, Arun d. Singh
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Multidisciplinary Sciences
Leanne M. Clevenger, Jacquelyn D. Wrenn, James Bena, Guneet Sodhi, Katherine Tullio, Arun D. Singh
Summary: There is no evidence of geographic or temporal clustering of uveal melanoma within Ohio from 2000 to 2019.
Article
Oncology
Yagmur Seda Yesiltas, Emily C. Zabor, Jacquelyn Wrenn, Zackery Oakey, Arun D. Singh
Summary: Enhanced surveillance protocols improved early detection of hepatic metastasis in high-risk uveal melanoma patients, but did not translate into a survival advantage in our study cohort. However, early detection of metastasis in patients receiving liver-directed therapies may lead to improved overall survival.
Article
Ophthalmology
Emily C. Zabor, Tomas Radivoyevitch, Arun D. Singh, Emine Kilic, J. E. M. M. de Klein, Helen Kalirai, Sarah E. Coupland
Summary: The study investigated conditional survival in patients with uveal melanoma in the United States and found that conditional survival rates improve with time since primary diagnosis, especially among patients who have survived for at least 5 years.
OPHTHALMOLOGY RETINA
(2021)