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Hitesh P Rai, Cameron Sandefur
Tuberous sclerosis complex (TSC) is a neurocutaneous disease that manifests across multiple body systems. While there are substantial guidelines and protocols for managing the physical presentation of the disease, managing the psychosocial factors and the adverse effects as a social determinant of health is complex and unclear. This study discusses a patient with TSC who was hospitalized for pneumonia and how both her psychiatric and somatic symptoms were managed. Here we present the case of a 38-year-old Caucasian female with shortness of breath and generalized weakness...
February 2024: Curēus
#2
JOURNAL ARTICLE
Jan Johnson, Wendy Somerfield, Simon R Johnson
BACKGROUND: Lymphangioleiomyomatosis (LAM) is common in tuberous sclerosis complex (TSC) yet under recognised with management mostly based upon evidence obtained from patients with sporadic LAM. We performed a prospective audit of patients with TSC-LAM attending a national referral centre to inform management guidelines. METHODS: The UK LAM Centre was established in 2011 and conducts a prospective audit of pre-defined quality outcomes for all subjects. Audit data are reported on all patients with TSC-LAM and a comparator population of patients with sporadic LAM...
March 26, 2024: Orphanet Journal of Rare Diseases
#3
JOURNAL ARTICLE
Andrew Limavady, Matko Marlais
UNLABELLED: The purpose of this study is to determine the predictive factors of tuberous sclerosis complex (TSC)-associated kidney disease and its progression in children. Retrospective review of children with TSC in a tertiary children's hospital was performed. Relevant data were extracted, and Cox proportional hazards regression was used to establish predictors of kidney lesions. Logistic regression was conducted to identify factors predicting chronic kidney disease (CKD) and high-risk angiomyolipomas (above 3 cm)...
March 14, 2024: European Journal of Pediatrics
#4
REVIEW
S Amin, B Ruban-Fell, I Newell, J Evans, K Vyas, C Nortvedt, R F Chin
BACKGROUND: Rett syndrome (RTT) and tuberous sclerosis complex (TSC) are two rare disorders presenting with a range of different epileptic seizures. Seizure management requires careful therapy selection, thereby necessitating development of high-quality treatment guidelines. This targeted literature review (TLR) aimed to characterise country-specific and international treatment guidelines available for pharmacological management of seizures in RTT and TSC. METHODS: A TLR was performed between 25-Jan and 11-Mar 2021...
February 26, 2024: Orphanet Journal of Rare Diseases
#5
REVIEW
Parul Gupta, Mamidipalli Sai Spoorthy, Pooja R Raikar
Importance: Tuberous sclerosis is an autosomal dominant genetic disorder that affects multiple organ systems and causes a wide range of physical manifestations. It commonly involves the brain, skin, heart, eyes, kidneys, and lungs. Individuals mostly present with neuropsychiatric symptoms, comprising a noteworthy source of morbidity and mortality. Observation : Ninety percent of individuals with tuberous sclerosis have associated neuropsychiatric manifestations including attention-deficit/hyperactivity disorder, autism spectrum disorder, and intellectual disability, which are typically underidentified and undertreated...
January 4, 2024: Primary Care Companion to CNS Disorders
#6
JOURNAL ARTICLE
Meredith Rose, David Ritter, Nishant Gupta, Leandra Tolusso, Paul Horn, Emily Wakefield, Jennifer Glass
BACKGROUND: Patients with tuberous sclerosis complex (TSC) face an increased risk of maternal health complications and worsening disease manifestations during pregnancy. There are no established consensus guidelines that address the management of pregnancy in patients with TSC and healthcare providers rely on their individual experiences and preferences to derive treatment decisions. We sought to obtain provider opinion of pregnancy related maternal complications in patients with TSC, and the common evaluation and management strategies used to address these issues...
January 2, 2024: Orphanet Journal of Rare Diseases
#7
REVIEW
Brian Na, Shilp Shah, Phioanh Leia Nghiemphu
Although most primary central and peripheral nervous system (NS) tumors occur sporadically, there are a subset that may arise in the context of a cancer predisposition syndrome. These syndromes occur due to a pathogenic mutation in a gene that normally functions as a tumor suppressor. With increased understanding of the molecular pathogenesis of these tumors, more people have been identified with a cancer predisposition syndrome. Identification is crucial, as this informs surveillance, diagnosis, and treatment options...
February 2024: Seminars in Neurology
#8
Ji Yun Seo, Anna Kim, Yoo Sang Baek, Jiehyun Jeon
Angiofibroma and shagreen patches are common cutaneous manifestations of tuberous sclerosis complex (TSC) and have significant physical and psychological repercussions for patients. Several treatments have been proposed to improve lesions; however, clear treatment guidelines have not yet been presented. Thus, we introduce a case of angiofibroma and shagreen patch improved by application of pulsed dye laser, ablative fractional CO2 laser, and topical rapamycin, and present clinical implications for the treatment of angiofibroma and shagreen patch in TSC...
November 2023: Annals of Dermatology
#9
JOURNAL ARTICLE
Linfei Li, Shuying Luo, Yaodong Zhang, Qing Shang, Wancun Zhang, Xiaoman Zhang, Lei Liu, Shiyue Mei
OBJECTIVE: To explore the clinical characteristics and genetic variants in two children with Tuberous sclerosis complex (TSC). METHODS: Two children who had presented at the Children's Hospital Affiliated to Zhengzhou University respectively in June 2020 and July 2021 were selected as the study subjects. Clinical data of the children were collected, and potential pathogenic variants were screened by whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing of their family members...
December 10, 2023: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
#10
Jami Kronick, Manal Y Gabril, Andrew A House
Declining kidney function in tuberous sclerosis complex (TSC) is often attributed to large lesions, including angiomyolipomas (AMLs) and cysts, that encroach on the normal parenchyma or that require intervention and loss of parenchyma from surgical debulking or embolization. Consequently, research on inhibitors of the mammalian target of rapamycin (mTOR), a protein complex implicated in TSC pathophysiology for its role in promoting cell growth and proliferation, has largely focused on their ability to reduce AML size...
December 2023: American Journal of Kidney Diseases
#11
JOURNAL ARTICLE
Takahiro Osawa, Mototsugu Oya, Tohru Okanishi, Ryohei Kuwatsuru, Haruna Kawano, Yoshihiko Tomita, Yo Niida, Norio Nonomura, Takashi Hatano, Yasuhisa Fujii, Masashi Mizuguchi, Nobuo Shinohara
New clinical issues have been raised through an interval of 7 years from the previous version (2016). In this study, we update the "Clinical Practice Guidelines for tuberous sclerosis complex-associated renal angiomyolipoma" as a 2023 version under guidance by the Japanese Urological Association. The present guidelines were cooperatively prepared by the Japanese Urological Association and Japanese Society of Tuberous Sclerosis Complex; committee members belonging to one of the two societies or specializing in the treatment of this disease were selected to prepare the guidelines in accordance with the "Guidance for preparing treatment guidelines" published by Minds (2020 version)...
June 6, 2023: International Journal of Urology: Official Journal of the Japanese Urological Association
#12
Vincent Cottin, Elodie Blanchard, Mallorie Kerjouan, Romain Lazor, Martine Reynaud-Gaubert, Camille Taille, Yurdagül Uzunhan, Lidwine Wemeau, Claire Andrejak, Dany Baud, Philippe Bonniaud, Pierre-Yves Brillet, Alain Calender, Lara Chalabreysse, Isabelle Court-Fortune, Nicolas Pierre Desbaillets, Gilbert Ferretti, Anne Guillemot, Laurane Hardelin, Marianne Kambouchner, Violette Leclerc, Mathieu Lederlin, Marie-Claire Malinge, Alain Mancel, Sylvain Marchand-Adam, Jean-Michel Maury, Jean-Marc Naccache, Mouhamad Nasser, Hilario Nunes, Gaële Pagnoux, Grégoire Prévot, Christine Rousset-Jablonski, Olivier Rouviere, Salim Si-Mohamed, Renaud Touraine, Julie Traclet, Ségolène Turquier, Stéphane Vagnarelli, Kaïs Ahmad
BACKGROUND: The present article is an English-language version of the French National Diagnostic and Care Protocol, a pragmatic tool to optimize and harmonize the diagnosis, care pathway, management and follow-up of lymphangioleiomyomatosis in France. METHODS: Practical recommendations were developed in accordance with the method for developing a National Diagnosis and Care Protocol for rare diseases of the Haute Autorité de Santé and following international guidelines and literature on lymphangioleiomyomatosis...
March 24, 2023: Respiratory medicine and research
#13
JOURNAL ARTICLE
Li Chen, Gang Li, Chen Zhang, Meng Jiao, Xiaoyan Li
OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with tuberous sclerosis complex (TSC). METHODS: The TSC1 and TSC2 genes were sequenced. Candidate variant was verified by Sanger sequencing of the proband and her family members. Pathogenicity of the variant was predicted based on the American College of Medical Genetics and Genomics (ACMG) guidelines. RESULTS: The proband was found to harbor a heterozygous c.52delC frameshift variant of the TSC2 gene, which may result in synthesis of amino acid chain starting from the 18th amino acid Leu and terminating at the 28th amino acid (p...
November 10, 2022: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
#14
JOURNAL ARTICLE
C Behan, R Davis, M Vasseghi, P Moloney, S Amin, N Delanty, C P Doherty
Introduction In the Republic of Ireland, there are no tuberous sclerosis complex (TSC) specialist clinics. Methods A clinical audit was carried out to assess the care received by patients attending two specialist adult epilepsy specialist centres, measuring their care against the UK guidelines. Results Although many baseline investigations are carried out, only one-third of patients had diagnostic genetic testing results available. Neuropsychiatry is largely neglected, and the completion of neuropsychiatric assessments checklists is inadequate...
August 18, 2022: Irish Medical Journal
#15
REVIEW
Doodipala Samba Reddy
Novel and effective antiseizure medications are needed to treat refractory and rare forms of epilepsy. Cannabinoids, which are obtained from the cannabis plant, have a long history of medical use, including for neurologic conditions. In 2018, the US Food and Drug Administration approved the first phytocannabinoid, cannabidiol (CBD, Epidiolex), which is now indicated for severe seizures associated with three rare forms of developmental and epileptic encephalopathy: Dravet syndrome, Lennox-Gastaut syndrome, and tuberous sclerosis complex...
January 2023: Experimental Neurology
#16
JOURNAL ARTICLE
Ashna Talwar, Emily Estes, Rajender Aparasu, Doodipala Samba Reddy
Antiseizure medications (ASMs) are the mainstay for the treatment of seizure disorders. However, about one-third of people with epilepsy remain refractory to current ASMs. Cannabidiol (CBD) has recently been approved as ASM for three refractory epilepsy syndrome indications in children and adults. In this study, we evaluated the overall clinical potential of an oral CBD to treat refractory epilepsy in patients with Dravet syndrome (DS), Lennox-Gastaut syndrome (LGS), and tuberous sclerosis complex (TSC) through a systematic review and meta-analysis...
January 2023: Experimental Neurology
#17
REVIEW
Lubna Shakhatreh, Mubeen Janmohamed, Ana Antonic Baker, Anna Willard, Joshua Laing, Maria Rychkova, Zhibin Chen, Patrick Kwan, Terence J O'Brien, Piero Perucca
OBJECTIVES: Malformations of cortical development (MCDs) are common causes of drug-resistant epilepsy. The mechanisms underlying the associated epileptogenesis and ictogenesis remain poorly elucidated. EEG can help in understanding these mechanisms. We systematically reviewed studies reporting scalp or intracranial EEG features of MCDs to characterise interictal and seizure-onset EEG patterns across different MCD types. METHODS: We conducted a systematic review in accordance with PRISMA guidelines...
November 2022: Neurobiology of Disease
#18
JOURNAL ARTICLE
Robyn Whitney, Maria Zak, Denait Haile, Maryam Nabavi Nouri
OBJECTIVE: Epilepsy associated with tuberous sclerosis complex (TSC) can be challenging to treat and is associated with significant disease burden. Our objective was to better understand the state of epilepsy care of TSC amongst pediatric neurologists in Canada, identify gaps in care and determine whether access to a dedicated TSC clinic has an impact on epilepsy management. METHODS: A survey was developed after a literature review and discussion amongst two pediatric epileptologists and one nurse practitioner with expertise in TSC about the state of epilepsy care of TSC patients in Canada...
September 26, 2022: Epilepsia Open
#19
REVIEW
Prabhumallikarjun Patil, Bojana Borislavova Pencheva, Vinayak Mahesh Patil, Jason Fangusaro
Genetic syndromes which develop one or more nervous system (NS) tumors as one of the manifestations can be grouped under the umbrella term of NS tumor predisposition syndromes. Understanding the underlying pathological pathways at the molecular level has led us to many radical discoveries, in understanding the mechanisms of tumorigenesis, tumor progression, interactions with the tumor microenvironment, and development of targeted therapies. Currently, at least 7-10% of all pediatric cancers are now recognized to occur in the setting of genetic predisposition to cancer or cancer predisposition syndromes...
October 2022: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
#20
REVIEW
Rebecca C Shaffer, Debra L Reisinger, Lauren M Schmitt, Martine Lamy, Kelli C Dominick, Elizabeth G Smith, Marika C Coffman, Anna J Esbensen
OBJECTIVE: To summarize the current state of the literature regarding emotion dysregulation (ED) in syndromic intellectual disabilities (S-IDs) in 6 of the most common forms of S-IDs-Down syndrome, fragile X syndrome (FXS), tuberous sclerosis complex, Williams syndrome, Prader-Willi syndrome, and Angelman syndrome-and to determine future research directions for identification and treatment of ED. METHOD: PubMed bibliographic database was searched from date of inception to May 2021...
August 22, 2022: Journal of the American Academy of Child and Adolescent Psychiatry
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