9,650 results match your criteria Tuberous Sclerosis


T-Bet Expression Mediated by the mTOR Pathway Influences CD4 T Cell Count in Mice With Lethal Sepsis.

Front Microbiol 2020 5;11:835. Epub 2020 May 5.

Department of Critical Care Medicine, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.

The sustained high morbidity and mortality of sepsis are mainly caused by compromise of host immunity. Clinically, it is often manifested as a significant decrease in CD4 T cell count, although the mechanism is unclear. We established a lethal mice sepsis model and used Murine Sepsis Score to group mice with different disease severity to establish the influence of T-bet expression on CD4 T cell count in sepsis. Read More

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http://dx.doi.org/10.3389/fmicb.2020.00835DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7214724PMC

Barriers to transition from pediatric to adult care for patients with Dravet syndrome: A focus group study of caregivers.

Epilepsy Behav 2020 May 15;109:107096. Epub 2020 May 15.

Dravet Syndrome Foundation, Cherry Hill, NJ, United States of America.

Caregivers of individuals with intellectual and developmental disabilities and epilepsy such as Dravet syndrome (DS) must navigate a complex web of state and community services through the transition from child-centered to adult-oriented healthcare. This study examined barriers to successful transition from the caregivers' perspective. Primary caregivers of teenagers or adults with DS who had contemplated or completed transition to adult care were eligible. Read More

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http://dx.doi.org/10.1016/j.yebeh.2020.107096DOI Listing

Visual Dermatology: Subungual Red Comets in Tuberous Sclerosis Complex.

J Cutan Med Surg 2020 May/Jun;24(3):309

16507 Servicio de Dermatologia, Hospital Universitario Ramon y Cajal, IRYCIS, Madrid, Spain.

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http://dx.doi.org/10.1177/1203475420915443DOI Listing

Long Noncoding RNA WT1-AS Inhibit Cell Malignancy via miR-494-3p in Glioma.

Technol Cancer Res Treat 2020 Jan-Dec;19:1533033820919759

Department of Neurosurgery, Translational Research Institute of Brain and Brain-Like Intelligence, Shanghai Fourth People's Hospital Affiliated to Tongji University School of Medicine, Shanghai, China.

Primary brain tumors are a rare occurrence in comparison to other malignancies, the most predominant form being glioma. Commonly, exposure to ionizing radiations and inheritance of associated conditions such a neurofibromatosis and tuberous sclerosis are the most common causes of development of glioma. However, understanding of the molecular mechanisms that drive glioma development is limited. Read More

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http://dx.doi.org/10.1177/1533033820919759DOI Listing

Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach.

Turk J Pediatr 2020 ;62(2):332-337

Divisions of Neonatology, Eskisehir Osmangazi University, Faculty of Medicine, Eskisehir, Turkey.

Background: Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disease with multisystem involvement.

Case: Here, a mother and infant couple was presented with maternal and fetal TSC including demonstrative clinical findings and genetic analysis. The interesting point of this case report is that maternal and fetal TSC was identified after the mother gave birth to a child with a cardiac rhabdomyoma. Read More

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http://dx.doi.org/10.24953/turkjped.2020.02.023DOI Listing
January 2020

Pilot Study of Neurodevelopmental Impact of Early Epilepsy Surgery in Tuberous Sclerosis Complex.

Pediatr Neurol 2020 Apr 14. Epub 2020 Apr 14.

Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama. Electronic address:

Background: To determine if early epilepsy surgery mitigates detrimental effects of refractory epilepsy on development, we investigated surgical and neurodevelopmental outcomes in children with tuberous sclerosis complex who underwent surgery before age two years.

Methods: Prospective multicenter observational study of 160 children with tuberous sclerosis complex. Surgical outcome was determined for the seizure type targeted by surgery. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2020.04.002DOI Listing

Sclerosing TSC1 Mutated Renal Cell Carcinoma: An Unusual Pattern Mimicking MITF Family Translocation Renal Cell Carcinoma.

Genes Chromosomes Cancer 2020 May 16. Epub 2020 May 16.

Department of Pathology and Laboratory Medicine, Henry Ford Health System, Detroit, Michigan.

The tuberous sclerosis genes and MTOR are increasingly being found to have important roles in novel subtypes of renal cancer, particularly emerging entities eosinophilic solid and cystic renal cell carcinoma (RCC) and high-grade oncocytic renal tumor (HOT) / RCC with eosinophilic and vacuolated cytoplasm. We report a unique renal neoplasm in a 66 year-old woman that initially mimicked MITF family translocation RCC due to mixed clear and eosinophilic cells, extensive stromal hyalinization, and psammoma bodies, yet which was negative for TFE3 and TFEB fluorescence in situ hybridization (FISH) and a next generation sequencing (NGS) gene fusion assay. Cytoplasmic stippling triggered consideration of TSC-associated neoplasms, and a targeted next generation sequencing assay revealed a variant in exon 21 of TSC1 resulting in c. Read More

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http://dx.doi.org/10.1002/gcc.22860DOI Listing

Sirolimus improves seizure control in pediatric patients with tuberous sclerosis: A prospective cohort study.

Seizure 2020 Apr 26;79:20-26. Epub 2020 Apr 26.

Department of Pediatrics, The First Medical Center of Chinese, PLA General Hospital, China; Center for Brain Disorders Research, Capital Medical University, Beijing Institute for Brain Disorders, China. Electronic address:

Purpose: This study aimed to analyze the therapeutic effect of sirolimus on seizures in pediatric patients with tuberous sclerosis.

Methods: We first compared the efficacy of controlling seizures in all patients after they had taken sirolimus for one year, and then we performed a subgroup analysis based on whether the administered antiepileptic drugs were changed to determine whether the efficacy was associated with changes of antiepileptic drugs.

Results: A total of 91 eligible children were enrolled. Read More

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http://dx.doi.org/10.1016/j.seizure.2020.03.018DOI Listing

Hair graying may occur early in life in tuberous sclerosis complex and is distinct from poliosis.

J Am Acad Dermatol 2020 May 13. Epub 2020 May 13.

Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2020.05.038DOI Listing

Prophylactic Antiepileptic Treatment in Tuberous Sclerosis.

Pediatr Neurol 2020 Apr 5. Epub 2020 Apr 5.

Department of Paediatric Neurology, Bristol Royal Hospital for Children, Bristol, UK; Bristol Medical School, University of Bristol, Bristol, UK. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2020.03.017DOI Listing

Long-term outcomes of ketogenic diet in patients with tuberous sclerosis complex-derived epilepsy.

Epilepsy Res 2020 Apr 29;164:106348. Epub 2020 Apr 29.

Department of Pediatrics, Yonsei University College of Medicine, Seoul, South Korea; Division of Pediatric Neurology, Epilepsy Research Institute, Severance Patients' Hospital, Seoul, South Korea. Electronic address:

Objective: For epilepsy with tuberous sclerosis complex (TSC), ketogenic diet (KD) therapy has been consistently reported to be more beneficial than the average KD therapy response. Herein, we aimed to investigate the long-term outcomes of a KD on patients with TSC and intractable epilepsy.

Methods: This study included 31 patients with intractable epilepsy and TSC who were treated with the KD, and an intention-to-treat analysis was performed. Read More

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http://dx.doi.org/10.1016/j.eplepsyres.2020.106348DOI Listing

Long non-coding RNA OIP5-AS1 suppresses multiple myeloma progression by sponging miR-27a-3p to activate TSC1 expression.

Cancer Cell Int 2020 7;20:155. Epub 2020 May 7.

Department of Orthopaedic, Taizhou Municipal Hospital, No. 381, Zhongshan East Road, Jiaojiang District, Taizhou, 318000 Zhejiang China.

Background: Multiple myeloma (MM) is a prevalent hematological malignancy. Long noncoding RNAs are correlated with the development of MM. In this project, the function of lncRNA opa interacting protein 5-antisense 1 (OIP5-AS1) in MM and the potential mechanistic pathway were explored. Read More

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http://dx.doi.org/10.1186/s12935-020-01234-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7206794PMC

Description of a multidisciplinary model of care in a French cohort of adult patients with tuberous sclerosis complex.

J Med Genet 2020 May 14. Epub 2020 May 14.

Service de Néphrologie, Transplantation, Dialyse et Aphérèses, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.

Background: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Due to the various manifestations of TSC and their potential complications, a multidisciplinary care approach is recommended by consensus guidelines.

Objectives: Our study aimed to give a complete description of our TSC adult cohort and to evaluate the multidisciplinary and interdisciplinary management model. Read More

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http://dx.doi.org/10.1136/jmedgenet-2019-106607DOI Listing

The efficacy of cannabidiol on renal angiomyolipoma and subependymal giant cell tumor volume in tuberous sclerosis complex.

J Clin Neurosci 2020 May 11. Epub 2020 May 11.

Massachusetts General Hospital, Boston, MA, USA. Electronic address:

In patients with tuberous sclerosis complex (TSC) the upregulation of the mechanistic target of rapamycin (mTOR) pathway leads to the development and growth of subependymal giant cell tumors (SGCTs) and renal angiomyolipomas (AMLs). Drugs that inhibit the mTOR pathway, such as sirolimus, can reduce the size of both SGCTs and AMLs. Recent preclinical studies have suggested cannabidiol (CBD) may mediate the mTOR pathway, however, its exact effects are unclear. Read More

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http://dx.doi.org/10.1016/j.jocn.2020.05.030DOI Listing

Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations?

Authors:
R Happle A Torrelo

J Eur Acad Dermatol Venereol 2020 May 12. Epub 2020 May 12.

Department. of Dermatology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.

In patients with tuberous sclerosis we can today distinguish between two different categories of segmental mosaicism. The well-known simple segmental mosaicism is characterized by a unilateral or otherwise localized arrangement of the ordinary lesions of the disorder, reflecting heterozygosity for an early postzygotic new mutation. By contrast, superimposed mosaicism is defined by a pronounced segmental involvement in a patient with ordinary nonsegmental lesions of the same disorder, resulting in a heterozygous embryo from loss of the corresponding wild-type allele that occurred at a very early developmental stage. Read More

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http://dx.doi.org/10.1111/jdv.16603DOI Listing

Therapeutic targeting of the secreted lysophospholipase D autotaxin suppresses tuberous sclerosis complex-associated tumorigenesis.

Cancer Res 2020 May 11. Epub 2020 May 11.

Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School

Tuberous Sclerosis Complex (TSC) is an autosomal dominant disease characterized by multi-organ hamartomas, including renal angiomyolipomas and pulmonary lymphangioleiomyomatosis (LAM). TSC2 deficiency leads to hyperactivation of mammalian Target of Rapamycin Complex 1 (mTORC1), a master regulator of cell growth and metabolism. Phospholipid metabolism is dysregulated upon TSC2 loss, causing enhanced production of lysophosphatidylcholine (LPC) species by TSC2-deficient tumor cells. Read More

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http://dx.doi.org/10.1158/0008-5472.CAN-19-2884DOI Listing

PKG1α Cysteine-42 Redox State Controls mTORC1 Activation in Pathological Cardiac Hypertrophy.

Circ Res 2020 May 12. Epub 2020 May 12.

Medicine, The Johns Hopkins University School of Medicine.

Stimulated protein kinase G-1α (PKG1α) phosphorylates tuberous sclerosis complex 2 (TSC2) at serine 1365, potently suppressing mTORC1 activation by neuro-hormonal and hemodynamic stress. This reduces pathological hypertrophy and dysfunction and increases autophagy. PKG1α oxidation at cysteine 42 is also induced by these stressors, which blunts its cardioprotective effects. Read More

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http://dx.doi.org/10.1161/CIRCRESAHA.119.315714DOI Listing
May 2020
11.019 Impact Factor

Safety and Efficacy of the Sirolimus Gel for TSC Patients With Facial Skin Lesions in a Long-Term, Open-Label, Extension, Uncontrolled Clinical Trial.

Dermatol Ther (Heidelb) 2020 May 8. Epub 2020 May 8.

Department of Dermatology, Nagasaki University, Nagasaki, Japan.

Introduction: Our previous clinical studies have demonstrated the short-term efficacy and safety of the sirolimus gel for patients with tuberous sclerosis complex (TSC). However, long-term clinical evidence is lacking. Our objective was to assess the safety and efficacy of long-term treatment with the sirolimus gel for the skin lesions of TSC patients. Read More

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http://dx.doi.org/10.1007/s13555-020-00387-7DOI Listing

Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family.

Mol Genet Genomic Med 2020 May 8:e1296. Epub 2020 May 8.

Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA.

Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic condition that involves abnormalities of the skin, hamartomas in the heart, brain, and kidneys, seizures, as well as TSC-associated neuropsychiatric disorders (TAND). About 90%-95% of individuals with TSC will have an identifiable pathogenic variant in either TSC1 or TSC2. We present here two family members with clinical diagnoses of TSC that were later determined to be due to two different genetic etiologies. Read More

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http://dx.doi.org/10.1002/mgg3.1296DOI Listing

Effects of bumetanide on neurodevelopmental impairments in patients with tuberous sclerosis complex: an open-label pilot study.

Mol Autism 2020 May 7;11(1):30. Epub 2020 May 7.

Department of Psychiatry, Brain Center, University Medical Center Utrecht, Utrecht, the Netherlands.

Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disease that affects multiple organs including the brain. TSC is strongly associated with broad neurodevelopmental disorders, including autism spectrum disorder symptomatology. Preclinical TSC studies have indicated altered neuronal chloride homeostasis affecting the polarity of γ-aminobutyric acid (GABA) ergic transmission as a potential treatment target. Read More

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http://dx.doi.org/10.1186/s13229-020-00335-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7204231PMC

Tsc1 haploinsufficiency in Nkx2.1 cells upregulates hippocampal interneuron mTORC1 activity, impairs pyramidal cell synaptic inhibition, and alters contextual fear discrimination and spatial working memory in mice.

Mol Autism 2020 May 6;11(1):29. Epub 2020 May 6.

Department of Neurosciences and Groupe de Recherche sur le Système Nerveux Central (GRSNC), Université de Montréal, C.P. 6128, succ. Centre-ville, Montréal, Quebec, H3C 3 J7, Canada.

Background: Mutations in TSC1 or TSC2 genes cause tuberous sclerosis complex (TSC), a disorder associated with epilepsy, autism, and intellectual disability. TSC1 and TSC2 are repressors of the mechanistic target of rapamycin complex 1 (mTORC1), a key regulator of protein synthesis. Dysregulation of mTORC1 in TSC mouse models leads to impairments in excitation-inhibition balance, synaptic plasticity, and hippocampus-dependent learning and memory deficits. Read More

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http://dx.doi.org/10.1186/s13229-020-00340-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7201610PMC

Tuberous Sclerosis-Associated Renal Neoplasm.

Mayo Clin Proc 2020 May;95(5):1089-1090

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1016/j.mayocp.2020.03.015DOI Listing

Mitochondrial retrograde signalling in neurological disease.

Philos Trans R Soc Lond B Biol Sci 2020 Jun 4;375(1801):20190415. Epub 2020 May 4.

Maurice Wohl Clinical Neuroscience Institute, King's College London, 125 Coldharbour Lane, London SE5 9NU, UK.

Neuronal mitochondrial dysfunction causes primary mitochondrial diseases and likely contributes to neurodegenerative diseases including Parkinson's and Alzheimer's disease. Mitochondrial dysfunction has also been documented in neurodevelopmental disorders such as tuberous sclerosis complex and autism spectrum disorder. Only symptomatic treatments exist for neurodevelopmental disorders, while neurodegenerative diseases are largely untreatable. Read More

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http://dx.doi.org/10.1098/rstb.2019.0415DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7209953PMC

OPTICAL COHERENCE TOMOGRAPHY AND OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY PARAMETERS IN PATIENTS WITH PHACOMATOSIS.

Retina 2020 Apr 29. Epub 2020 Apr 29.

Department of Ophthalmology, Centro Hospitalar e Universitário do Porto, Porto, Portugal.

Purpose: To compare the retinal vasculature characteristics between eyes of patients with and without phacomatosis.

Methods: Case-control observational study with retinal vasculature evaluation by optical coherence tomography and optical coherence tomography angiography of the macula and disk.

Results: The study included 80 eyes. Read More

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http://dx.doi.org/10.1097/IAE.0000000000002840DOI Listing

Ventricular repolarization abnormalities: the electrocardiographic track of cardiac tumoural involvement in an infant with tuberous sclerosis complex. A case report.

Eur Heart J Case Rep 2020 Apr 24;4(2):1-6. Epub 2020 Feb 24.

Clinical Unit of Electrocardiography, Instituto do Coracao (InCor), Hospital das Clinicas FMUSP, Faculdade de Medicina, Universidade de Sao Paulo, CEP 05403-900 Sao Paulo, SP, Brazil.

Background: Primary cardiac tumours are rare in children. Against this backdrop, echocardiogram is the main diagnostic procedure, while electrocardiogram (ECG) usually plays a secondary role, by detecting tumoural consequences as cardiac arrhythmias and chambers overload. We describe a case where an electrocardiographic sign was the cornerstone to diagnosis and surveillance of an infant with a cardiac rhabdomyoma. Read More

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http://dx.doi.org/10.1093/ehjcr/ytaa025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7180701PMC

Hereditary Syndromes in Neuroendocrine Tumors.

Authors:
Mark A Lewis

Curr Treat Options Oncol 2020 Apr 30;21(6):50. Epub 2020 Apr 30.

Gastrointestinal Oncology, Intermountain Healthcare, 5171 S. Cottonwood Street, Bldg. 1. Ste. 610, Murray, UT, 84107, USA.

Opinion Statement: Oncologists should be able to discern the salient clinical features of the most common germline mutations that give rise to neuroendocrine tumors. Astute recognition of an index patient affected by a hereditary syndrome can lead to a "tip-of-the-iceberg" phenomenon whereby their entire kindred can then be proactively monitored and managed potentially with substantial reduction of morbidity and mortality. Through careful history-taking, as well as thoughtful assimilation of findings from the physical exam, biochemical laboratories, scans, and pathology reports, the clinician can spot phenotypic clues that distinguish these familial patterns from sporadic cases of tumorigenesis. Read More

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http://dx.doi.org/10.1007/s11864-020-00749-5DOI Listing

Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex.

PLoS One 2020 29;15(4):e0232376. Epub 2020 Apr 29.

Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America.

Objective: To develop and test a deep learning algorithm to automatically detect cortical tubers in magnetic resonance imaging (MRI), to explore the utility of deep learning in rare disorders with limited data, and to generate an open-access deep learning standalone application.

Methods: T2 and FLAIR axial images with and without tubers were extracted from MRIs of patients with tuberous sclerosis complex (TSC) and controls, respectively. We trained three different convolutional neural network (CNN) architectures on a training dataset and selected the one with the lowest binary cross-entropy loss in the validation dataset, which was evaluated on the testing dataset. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0232376PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7190137PMC

Tuberous sclerosis complex associated intracranial lesion found by antenatal ultrasound.

Radiol Case Rep 2020 Jul 22;15(7):816-818. Epub 2020 Apr 22.

Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, 401 Smyth Road, Ottawa, Ontario K1H 8L1, Canada.

Tuberous sclerosis complex (TSC) is characterized by the growth of benign tumors in the skin, brain, kidneys, lung and heart [1]. Prognosis is mostly determined by the extent of brain involvement as tumors in the brain lead to seizures, cognitive impairment and behavioral problems. Current evidence suggests anti-epileptic treatment before the onset of seizures reduces epilepsy severity and risk of cognitive impairment in TSC however identifying these children prior to the onset of seizures is challenging. Read More

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http://dx.doi.org/10.1016/j.radcr.2020.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7182691PMC

PTEN inhibitor VO-OHpic suppresses TSC2 MEFs proliferation by excessively inhibiting autophagy via the PTEN/PRAS40 pathway.

Exp Ther Med 2020 Jun 31;19(6):3565-3570. Epub 2020 Mar 31.

Department of Urology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, P.R. China.

Tuberous sclerosis complex (TSC) is a relatively rare autosomal dominant disease which involves multiple organs, including the brain, kidney, lung, skin and heart. Renal angiomyolipomas (RAML) are the main causes of mortality in patients with TSC. The preferred treatment for RAML is the use of mTOR inhibitors, but the efficacy of these are not satisfactory. Read More

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http://dx.doi.org/10.3892/etm.2020.8629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7185083PMC

Juvenile cataract in association with tuberous sclerosis complex.

Ophthalmic Genet 2020 Apr 27:1-5. Epub 2020 Apr 27.

Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, USA.

: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by benign hamartomas occurring in multiple organ systems including the brain, kidneys, heart, lungs, liver, skin, and the eyes. Typical retinal findings associated with TSC include astrocytic hamartoma and achromic patch. While rare cases of cataract occurring in the setting of TSC have been reported, this is the first analysis of a large series of individuals with TSC that aims to quantify the frequency of this finding and to describe its clinical and genetic associations. Read More

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http://dx.doi.org/10.1080/13816810.2020.1755989DOI Listing

Pharmacological treatment strategies for subependymal giant cell astrocytoma (SEGA).

Expert Opin Pharmacother 2020 Apr 27:1-8. Epub 2020 Apr 27.

Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

: Subependymal ependymal giant cell astrocytomas (SEGAs) occur almost exclusively in the setting of tuberous sclerosis (TSC). They are low-grade gliomas which typically produce clinical symptoms through either mass effect or hydrocephalus. As do other manifestations of tuberous sclerosis, these lesions result from mutations in either the or the gene. Read More

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http://dx.doi.org/10.1080/14656566.2020.1751124DOI Listing

Topical rapamycin combined with calcitriol in treating angiofibromas in tuberous sclerosis complex.

Authors:
C H Lee

Br J Dermatol 2020 Apr 27. Epub 2020 Apr 27.

Department of Dermatology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan.

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http://dx.doi.org/10.1111/bjd.19060DOI Listing

Concurrent hepatic and renal angiomyolipomas in tuberous sclerosis complex.

Rev Esp Enferm Dig 2020 May;112(5):412-413

Aparato Digestivo, Complejo Hospitalario Universitario de Toledo, ESPAÑA.

Tuberous sclerosis complex (TSC) is a rare disease which is characterized by widespread of a variety of benign tumors in multiple organs. Renal angiomyolipomas (AMLs) are the primary cause of morbidity in TSC due to anemia, renal failure or spontaneous bleeding. In contrast, the hepatic involvement is unusual and it is infrequently described in literature. Read More

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http://dx.doi.org/10.17235/reed.2020.6376/2019DOI Listing

Combination percutaneous and medical management of cardiac rhabdomyomas obstructing tricuspid valve inflow: Case report.

J Neonatal Perinatal Med 2020 Apr 23. Epub 2020 Apr 23.

Lillie Frank Abercrombie Section of Cardiology, Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.

Background: Cardiac rhabdomyomas can be prenatally diagnosed in patients with tuberous sclerosis complex. Many neonates require no intervention in early life other than close monitoring for regression of tumor over the period of months to years. In rare instances, cardiac rhabdomyomas can result in obstruction to blood flow or decreased ventricular function. Read More

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http://dx.doi.org/10.3233/NPM-190330DOI Listing

Auditory Processing of Speech and Tones in Children With Tuberous Sclerosis Complex.

Front Integr Neurosci 2020 9;14:14. Epub 2020 Apr 9.

Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, United States.

Individuals with Tuberous Sclerosis Complex (TSC) have atypical white matter integrity and neural connectivity in the brain, including language pathways. To explore functional activity associated with auditory and language processing in individuals with TSC, we used electroencephalography (EEG) to examine basic auditory correlates of detection (P1, N2, N4) and discrimination (mismatch negativity, MMN) of speech and non-speech stimuli for children with TSC and age- and sex-matched typically developing (TD) children. Children with TSC (TSC group) and without TSC (typically developing, TD group) participated in an auditory MMN paradigm containing two blocks of vowels (/a/and/u/) and two blocks of tones (800 Hz and 400 Hz). Read More

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http://dx.doi.org/10.3389/fnint.2020.00014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7161665PMC

The Role of Heat Shock Protein-90 in the Pathogenesis of Birt-Hogg-Dubé and Tuberous Sclerosis Complex Syndromes.

Urol Oncol 2020 Apr 20. Epub 2020 Apr 20.

Department of Urology, SUNY Upstate Medical University, Syracuse, NY, USA; Department of Biochemistry and Molecular Biology, SUNY Upstate Medical University, Syracuse, NY, USA; Upstate Cancer Center, SUNY Upstate Medical University, Syracuse, NY, USA. Electronic address:

Birt-Hogg-Dubé (BHD) and tuberous sclerosis (TS) syndromes share many clinical features. These two diseases display distinct histologic subtypes of renal tumors: chromophobe renal cell carcinoma and renal angiomyolipoma, respectively. Early work suggested a role for mTOR dysregulation in the pathogenesis of these two diseases, however their detailed molecular link remains elusive. Read More

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http://dx.doi.org/10.1016/j.urolonc.2020.03.016DOI Listing

mTOR pathway activation in focal cortical dysplasia.

Ann Diagn Pathol 2020 Apr 10;46:151523. Epub 2020 Apr 10.

Institute of Genomics and Integrative Biology - Council of Scientific and Industrial Research, New Delhi, India.

Background: Focal cortical dysplasia (FCD) is a localized cortical malformation and considerable morphological overlap exists between FCD IIB and neurological lesions associated with Tuberous sclerosis complex (TSC). Abnormal mTOR pathway secondary to somatic mTOR mutation and TSC gene mutation linked to PI3K/AKT/mTOR pathway have supported the hypothesis of common pathogenesis involved. Role of converging pathway, viz. Read More

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http://dx.doi.org/10.1016/j.anndiagpath.2020.151523DOI Listing

Targeting autophagy-related protein kinases for potential therapeutic purpose.

Acta Pharm Sin B 2020 Apr 18;10(4):569-581. Epub 2019 Oct 18.

State Key Laboratory of Biotherapy and Cancer Center, West China Hospital, Sichuan University, Collaborative Innovation Center for Biotherapy, Chengdu 610041, China.

Autophagy, defined as a scavenging process of protein aggregates and damaged organelles mediated by lysosomes, plays a significant role in the quality control of macromolecules and organelles. Since protein kinases are integral to the autophagy process, it is critically important to understand the role of kinases in autophagic regulation. At present, intervention of autophagic processes by small-molecule modulators targeting specific kinases has becoming a reasonable and prevalent strategy for treating several varieties of human disease, especially cancer. Read More

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http://dx.doi.org/10.1016/j.apsb.2019.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7161711PMC

Prenatal genetic diagnosis of cardiac rhabdomyoma: A single-center experience.

Eur J Obstet Gynecol Reprod Biol 2020 Apr 10;249:7-8. Epub 2020 Apr 10.

Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China. Electronic address:

Objective: The aim of this study is to review our institution's experience with fetal cardiac rhabdomyoma, and to document the prenatal genetic testing for tuberous sclerosis complex (TSC) and clinical outcome of the affected pregnancies.

Study Design: During a four-year period, patients with fetal cardiac rhabdomyoma were detected by echocardiography in the second trimester of pregnancy. Molecular genetic analysis was conducted on fetuses to screen for variants of TSC1/TSC2 genes. Read More

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http://dx.doi.org/10.1016/j.ejogrb.2020.03.051DOI Listing

Treatment of infantile spasms: why do we know so little?

Expert Rev Neurother 2020 Apr 22. Epub 2020 Apr 22.

Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University, Via Montpellier 1, 00133 Rome, Italy.

: Infantile spasms (IS) is an epileptic syndrome with typical onset within the first 2 years of life. This condition might be caused by several etiologies. IS is associated with pathological neuronal networks; however, definite hypotheses on neurobiological processes are awaited. Read More

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http://dx.doi.org/10.1080/14737175.2020.1759423DOI Listing

First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.

Sci Rep 2020 Apr 20;10(1):6589. Epub 2020 Apr 20.

Laboratorio de Biología Molecular, Instituto Nacional de Pediatría, Secretaría de Salud, Ciudad de México, México.

The aim of this study was to improve knowledge of the mutational spectrum causing tuberous sclerosis complex (TSC) in a sample of Mexican patients, given the limited information available regarding this disease in Mexico and Latin America. Four different molecular techniques were implemented to identify from single nucleotide variants to large rearrangements in the TSC1 and TSC2 genes of 66 unrelated Mexican-descent patients that clinically fulfilled the criteria for a definitive TSC diagnosis. The mutation detection rate was 94%, TSC2 pathogenic variants (PV) prevailed over TSC1 PV (77% vs. Read More

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http://dx.doi.org/10.1038/s41598-020-62759-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7170856PMC
April 2020
5.078 Impact Factor

Neutrophil to lymphocyte rate and serum prealbumin maybe predictors for abnormal high blood pressure caused by adrenocorticotropic hormone therapy in children with epileptic spasms: two cases report.

Ann Transl Med 2020 Mar;8(5):248

Department of Neurology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.

Epileptic spasms are a catastrophic form of epilepsy. When epileptic spasms occur under 2-year-old, they may be also called "infantile spasms". Adrenocorticotropic hormone (ACTH) is recommended as first line intervention for the treatment of epileptic spasms without tuberous sclerosis complex. Read More

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http://dx.doi.org/10.21037/atm.2020.01.132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7154432PMC

Tumour kinome re-wiring governs resistance to palbociclib in oestrogen receptor positive breast cancers, highlighting new therapeutic modalities.

Oncogene 2020 Apr 19. Epub 2020 Apr 19.

Breast Cancer Now Toby Robins Research Centre, Institute of Cancer Research, London, SW7 3RP, UK.

Combination of CDK4/6 inhibitors and endocrine therapy improves clinical outcome in advanced oestrogen receptor (ER)-positive breast cancer, however relapse is inevitable. Here, we show in model systems that other than loss of RB1 few gene-copy number (CN) alterations are associated with irreversible-resistance to endocrine therapy and subsequent secondary resistance to palbociclib. Resistance to palbociclib occurred as a result of tumour cell re-wiring leading to increased expression of EGFR, MAPK, CDK4, CDK2, CDK7, CCNE1 and CCNE2. Read More

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http://dx.doi.org/10.1038/s41388-020-1284-6DOI Listing

Individualizing the definition of seizure clusters based on temporal clustering analysis.

Epilepsy Res 2020 Jul 9;163:106330. Epub 2020 Apr 9.

Department of Neurology, Beth Israel Deaconess Medical Center, Boston, MA, United States.

Objective: Seizure clusters are often encountered in people with poorly controlled epilepsy. Detection of seizure clusters is currently based on simple clinical rules, such as two seizures separated by four or fewer hours or multiple seizures in 24 h. Current definitions fail to distinguish between statistically significant clusters and those that may result from natural variation in the person's seizures. Read More

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http://dx.doi.org/10.1016/j.eplepsyres.2020.106330DOI Listing

Infantile Spasms: Outcome in Clinical Studies.

Authors:
Raili Riikonen

Pediatr Neurol 2020 Feb 4. Epub 2020 Feb 4.

Children's Hospital, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland. Electronic address:

Children with infantile spasms are likely to have a poor outcome. Outcome measures for infantile spasms include primary response to treatment, relapse of spasms, neurological development, death, and progression to another type of epilepsy (Consensus Statements of the WEST Delphi Group 2004). This review is based mainly on prospective studies and emphasizes data about the current first-line drugs, adrenocorticotropic hormone, vigabatrin, and prednisolone, taking into account the proportion of patients with known and unknown etiology, which has a very strong effect on seizure outcome. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2020.01.015DOI Listing
February 2020

Sex-Selective Effects on Behavior in a Mouse Model of Tuberous Sclerosis Complex.

eNeuro 2020 Mar/Apr;7(2). Epub 2020 Apr 29.

Section on Neuroadaptation and Protein Metabolism, National Institute of Mental Health, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20814

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder that is caused by a mutation in either or TSC affects multiple systems of the body, and patients with TSC display a range of neurologic and behavioral manifestations including seizures, intellectual disability, autism spectrum disorders, attention deficit hyperactivity disorder, anxiety, and mood disorders. Whereas behavioral phenotypes of many mouse models have been studied, the effects of sex have, for the most part, not been explored. We studied adult male and female heterozygous and control mice to investigate the influence of sex and genotype on behavior. Read More

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http://dx.doi.org/10.1523/ENEURO.0379-19.2020DOI Listing

Long-term stability of 0.1% rapamycin hydrophilic gel in the treatment of facial angiofibromas.

Eur J Hosp Pharm 2020 Mar 10;27(e1):e48-e52. Epub 2018 Nov 10.

Pharmacy Department, Henri Mondor Hospital Group, AP-HP, Creteil, France.

Objectives: In recent years, various formulations containing rapamycin, mainly petrolatum-based, have been tested on facial angiofibromas in tuberous sclerosis. They are often poorly tolerated due to irritation and bleeding. In addition, their effectiveness was insufficient in young adults. Read More

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http://dx.doi.org/10.1136/ejhpharm-2018-001695DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7147563PMC