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Front Med (Lausanne) 2021 26;8:605909. Epub 2021 Apr 26.

Respiratory Unit, Azienda Socio Sanitaria Territoriale - Papa Giovanni XXIII Hospital, Bergamo, Italy.

Lymphangioleiomyomatosis can develop in a sporadic form (S-LAM) or in women with tuberous sclerosis complex (TSC). The matrix metalloproteinases (MMPs) are extracellular matrix-degrading enzymes potentially involved in cystic lung destruction, and in the process of migration of LAM cells. The aim of the study was to explore the role of MMP-2 and MMP-7, such as vascular endothelial growth factor (VEGF) -C and -D in women with LAM, including patients with minor pulmonary disease (i. Read More

Orphanet J Rare Dis 2021 May 12;16(1):216. Epub 2021 May 12.

Robert Debré University Hospital, Paris, France.

Background: Tuberous sclerosis complex (TSC) is a rare, genetic, multisystem disorder characterized by the growth of hamartomas in several organs, including the brain, kidneys, heart, eyes, and lungs. Even though over 90% of patients will have some form of TSC-associated neuropsychiatric disorder (TAND), there is an apparent lack of involvement of mental health professionals (MHPs) in the care of patients with TSC. The aim of this study was to determine the current level of TAND awareness in the TSC community and to identify possible barriers to effective multidisciplinary collaboration between MHPs and other healthcare providers (HCPs) in TAND management. Read More

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 May;38(5):435-438

Center of Genetic and Prenatal Diagnosis, Department of Gynecology and Obstetrics, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.

Objective: To carry out genetic testing and prenatal diagnosis for 29 Chinese pedigrees affected with tuberous sclerosis complex (TSC) and assess efficacy of combined next generation sequencing (NGS) and multiple ligation-dependent probe amplification (MLPA) for the diagnosis.

Methods: NGS and MLPA were used in conjunct to detect variants of TSC1 and TSC2 genes among the probands of the pedigrees. Paternity test was carried out to exclude maternal DNA contamination. Read More

World J Clin Pediatr 2021 May 9;10(3):15-28. Epub 2021 May 9.

Department of Pediatrics, University Medical Center, King Abdulla Medical City, Arabian Gulf University, Manama P.O. Box 26671, Bahrain, Bahrain.

Medical comorbidities are more common in children with autism spectrum disorders (ASD) than in the general population. Some genetic disorders are more common in children with ASD such as Fragile X syndrome, Down syndrome, Duchenne muscular dystrophy, neurofibromatosis type I, and tuberous sclerosis complex. Children with autism are also more prone to a variety of neurological disorders, including epilepsy, macrocephaly, hydrocephalus, cerebral palsy, migraine/headaches, and congenital abnormalities of the nervous system. Read More

Nat Commun 2021 May 10;12(1):2589. Epub 2021 May 10.

Department of Neuroscience, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.

Patients with Tuberous Sclerosis Complex (TSC) show aberrant wiring of neuronal connections formed during development which may contribute to symptoms of TSC, such as intellectual disabilities, autism, and epilepsy. Yet models examining the molecular basis for axonal guidance defects in developing human neurons have not been developed. Here, we generate human induced pluripotent stem cell (hiPSC) lines from a patient with TSC and genetically engineer counterparts and isogenic controls. Read More

J Microbiol Immunol Infect 2021 Apr 20. Epub 2021 Apr 20.

Department, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100730, China; Department of Critical Care Medicine, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China. Electronic address:

Background: We investigated the effect of the mammalian target of rapamycin (mTOR) pathway on CD8+ T cell immunity through Eomesodermin (Eomes) in intensive care unit (ICU) patients with invasive candidiasis (IC) and in a mouse model.

Methods: We evaluated quantitative changes in parameters of the mTOR/phosphorylated ribosomal S6 kinase (pS6K) pathway and immune system at the onset of infection in ICU patients. The study was registered on 28 February 2017 at chictr. Read More

Int J Biol Macromol 2021 May 7;183:898-907. Epub 2021 May 7.

Center for Tropical Roots and Starches (CERAT), São Paulo State University (UNESP), Botucatu, São Paulo PC 18610-307, Brazil; Department of Food Engineering and Technology, São Paulo State University (UNESP), São José do Rio Preto, São Paulo PC 15054-000, Brazil.

The diversification of raw materials in the starch industries is a current strategy. However, the production of native starches does not meet market demand, and it is essential to expand the knowledge about chemical modifications in the same production line for different sources of starch. Phosphate starches are one of the most abundantly produced and widely used chemically modified starches. Read More

Front Immunol 2021 21;12:638575. Epub 2021 Apr 21.

Department of Microbiology and Immunology, University of Texas Medical Branch, Galveston, TX, United States.

Metformin is not only the first-line medication for the treatment of type 2 diabetes, but it is also effective as an anti-inflammatory, anti-oxidative and anti-tumor agent. However, the effect of metformin during viral hepatitis remains elusive. Using an adenovirus (Ad)-induced viral hepatitis mouse model, we found that metformin treatment significantly attenuated liver injury, with reduced serum aspartate transaminase (AST) and alanine transaminase (ALT) levels and liver histological changes, presumably decreased effector T cell responses. Read More

J Fr Ophtalmol 2021 May 4. Epub 2021 May 4.

Service d'ophtalmo-pédiatrie, fondation Adolphe-de-Rothschild, 29, rue Manin, 75019 Paris, France.

Pediatr Neurol 2021 Apr 2;120:7-10. Epub 2021 Apr 2.

Department of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Neurology, University of Cincinnati College of Medicine, Cincinnati, Ohio.

Background: Tuberous sclerosis complex (TSC) is a genetic disorder that is manifested in multiple body systems. A mammalian target of rapamycin (mTOR) inhibitor (mTORi), either everolimus or sirolimus, is now routinely prescribed for multiple clinical manifestations of TSC, including subependymal giant cell astrocytoma and epilepsy. These medications are generally well tolerated. Read More

Hum Pathol 2021 May 4. Epub 2021 May 4.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905. Electronic address:

Aims: Low-grade oncocytic tumor of the kidney (LOT) is characterized by cytoplasmic eosinophilia and a CK7-positive/CD117-negative immunophenotype. Morphologically, they exhibit overlapping features with oncocytoma and chromophobe renal cell carcinoma (chRCC). Our aim was to obtain long-term clinical follow-up data, clinicopathological and molecular characteristics, and incidence of LOT. Read More

Indian Dermatol Online J 2021 Mar-Apr;12(2):327-329. Epub 2021 Feb 22.

Department of Dermatology, Venereology and Leprology, Government Medical College, Nagpur, Maharashtra, India.

J Am Coll Radiol 2021 May;18(5S):S199-S211

Specialty Chair, Riley Hospital for Children Indiana University, Indianapolis, Indiana.

In children, seizures represent an extremely heterogeneous group of medical conditions ranging from benign cases, such as a simple febrile seizure, to life-threatening situations, such as status epilepticus. Underlying causes of seizures also represent a wide range of pathologies from idiopathic cases, usually genetic, to a variety of acute and chronic intracranial or systemic abnormalities. This document discusses appropriate utilization of neuroimaging tests in a child with seizures. Read More

J Neuroinflammation 2021 May 6;18(1):107. Epub 2021 May 6.

Institute of Materia Medica, College of Pharmacy, Army Medical University (Third Military Medical University), Chongqing, 400038, China.

Background: Tuberous sclerosis complex 1 (Tsc1) is known to regulate the development and function of various cell types, and RORγt is a critical transcription factor in the immune system. However, whether Tsc1 participates in regulating RORγt-expressing cells remains unknown.

Methods: We generated a mouse model in which Tsc1 was conditionally deleted from RORγt-expressing cells (Tsc1) to study the role of RORγt-expressing cells with Tsc1 deficiency in brain homeostasis. Read More

Ann R Coll Surg Engl 2021 May 6. Epub 2021 May 6.

Maulana Azad Medical College, New Delhi, India.

Angiomyolipoma is a benign solid renal neoplasm. A giant angiomyolipoma is more than 10cm by size, but it can grow to huge proportions. Our case appears to be the third largest angiomyolipoma and the largest among bilateral giant renal angiomyolipoma in the indexed literature. Read More

Brain Sci 2021 Apr 29;11(5). Epub 2021 Apr 29.

Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital, 2-12-12 Sumiyoshi, Nakaku, Hamamatsu, Shizuoka 430-8558, Japan.

Background: Improved conversational fluency is sometimes identified postoperatively in patients with epilepsy, but improvements can be difficult to assess using tests such as the intelligence quotient (IQ) test. Evaluation of pre- and postoperative differences might be considered subjective at present because of the lack of objective criteria. Artificial intelligence (AI) could possibly be used to make the evaluations more objective. Read More

Neurologist 2021 May 5;26(3):80-82. Epub 2021 May 5.

Department of Neurology, Mayo Clinic, Rochester, MN.

Background: Hyperammonemia is a common side effect of valproic acid (VPA) and can occur after generalized seizures, but the clinical significance is unclear. The aim of this study was to better understand the clinical practice and utility of ammonia testing in status epilepticus (SE) treated with or without VPA.

Methods: Charts of adult patients with SE from St. Read More

Neuropathol Appl Neurobiol 2021 May 3. Epub 2021 May 3.

Department of (Neuro) Pathology, UMC, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, the Netherlands.

Aims: Tuberous sclerosis complex (TSC) is a genetic disorder associated with dysregulation of the mechanistic target of rapamycin complex 1 (mTORC1) signalling pathway. Neurodevelopmental disorders, frequently present in TSC, are linked to cortical tubers in the brain. We previously reported microRNA-34a (miR-34a) among the most up-regulated miRs in tubers. Read More

Aesthetic Plast Surg 2021 May 3. Epub 2021 May 3.

Plastic and Reconstructive Microsurgery, Careggi University Hospital, Viale Giacomo Matteotti 42, 50132, Florence, Italy.

Background: Gynecomastia is a common finding in males. Clinical aspect varies widely in world populations showing peculiar hallmarks according to different body shapes reflecting personal expectations; therefore, a surgical plan must be tailored on individual basis to all type of patients.

Materials And Method: A total of 522 patients, treated for bilateral gynecomastia from January 2007 to January 2019, were included and reviewed in this retrospective study. Read More

SA J Radiol 2021 30;25(1):2034. Epub 2021 Mar 30.

Department of Radiology, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.

Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome that is characterised by hamartomas in multiple organs, the characteristic imaging features of which are illustrated in this case report. Angiomyolipoma (AML) is the most common renal manifestation of TSC, which may present with life-threatening haemorrhage at the time of diagnosis. Interventional management with selective renal embolisation is currently the treatment of choice for the safe and effective management of ruptured renal AML. Read More

Ann Am Thorac Soc 2021 05;18(5):775-777

Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland.

3 Biotech 2021 Apr 18;11(4):173. Epub 2021 Mar 18.

Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh India.

2-Hydroxy-4-Methoxy Benzaldehyde (2H4MB) is a structural isomer of vanillin produced in the tuberous roots of . Both vanillin and 2H4MB share the common phenylpropanoid pathway for their synthesis. Unlike vanillin, in which the biosynthetic pathway was well elucidated in , the 2H4MB biosynthetic pathway is not known in any of its plant sources. Read More

Epileptic Disord 2021 Apr 29. Epub 2021 Apr 29.

Department of Functional Neurosurgery, Hospices Civils de Lyon and University of Lyon, Lyon, France, University of Lyon, Lyon, France, Lyon's Neuroscience Research Centre, (INSERM U1028, CNRS UMR5292), University of Lyon, Lyon, France.

In patients with intractable partial epilepsy who are eligible for epilepsy surgery, the best seizure control requires complete resection of the epileptogenic zone. When the epileptogenic zone is located very near to, or even with the eloquent cortex, this can be a challenge. In this study, we investigated the efficacy of awake craniotomy techniques to completely resect these epileptic zones while preserving the neural functions. Read More

Radiol Clin North Am 2021 May;59(3):471-500

Department of Radiology and Medical Imaging, University of Virginia Health System, 1215 Lee Street, Charlottesville, VA 22903, USA. Electronic address:

Tumor predisposition syndromes represent a heterogeneous group of multiorgan disorders, with many having substantial central nervous system involvement. This article highlights the common and uncommon manifestations of these syndromic disorders, the underlying genetic pathways, and the imaging findings. Radiologists must be aware of the diagnostic criteria, optimal imaging techniques (both for diagnosis and surveillance), as well as the innumerable imaging manifestations of these syndromes. Read More

Int J Mol Sci 2021 Apr 16;22(8). Epub 2021 Apr 16.

Department of Cancer Biology, University of Cincinnati College Medicine, Cincinnati, OH 45267, USA.

Tuberous sclerosis complex (TSC) is a genetic disorder caused by inactivating mutations in TSC1 (hamartin) or TSC2 (tuberin), crucial negative regulators of the mechanistic target of rapamycin complex 1 (mTORC1) signaling pathway. TSC affects multiple organs including the brain. The neurologic manifestation is characterized by cortical tubers, subependymal nodules (SEN), and subependymal giant cell astrocytoma (SEGA) in brain. Read More

Int J Mol Sci 2021 Apr 15;22(8). Epub 2021 Apr 15.

Department of Cell Systems and Anatomy, The University of Texas Health Science Center, San Antonio, TX 78229, USA.

The role of tumor protein 63 (TP63) in regulating insulin receptor substrate 1 (IRS-1) and other downstream signal proteins in diabetes has not been characterized. RNAs extracted from kidneys of diabetic mice (db/db) were sequenced to identify genes that are involved in kidney complications. RNA sequence analysis showed more than 4- to 6-fold increases in TP63 expression in the diabetic mice's kidneys, compared to wild-type mice at age 10 and 12 months old. Read More

Dev Neurosci 2021 Apr 28:1-16. Epub 2021 Apr 28.

Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, California, USA.

The mechanistic target of rapamycin (mTOR) is a kinase at the center of an evolutionarily conserved signaling pathway that orchestrates cell growth and metabolism. mTOR responds to an array of intra- and extracellular stimuli and in turn controls multiple cellular anabolic and catabolic processes. Aberrant mTOR activity is associated with numerous diseases, with particularly profound impact on the nervous system. Read More

Eur J Surg Oncol 2021 Apr 19. Epub 2021 Apr 19.

Department of Hepatobiliary and Pancreatic Surgery, The Center for Integrated Oncology and Precision Medicine, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Hangzhou, 310006, China; Zhejiang University Cancer Center, Hangzhou, 310058, China; NHC Key Laboratory of Combined Multi-organ Transplantation, Hangzhou, 310003, China; Institute of Organ Transplantation, Zhejiang University, Hangzhou, 310003, China. Electronic address:

Background: The use of the immunosuppressive agent sirolimus (SRL) following liver transplantation (LT) in patients with hepatocellular carcinoma (HCC) is controversial. Sirolimus is a typical mammalian target of rapamycin (mTOR) inhibitor, and tuberous sclerosis 1-tuberous sclerosis 2 complex (TSC1/TSC2) is an important negative effector in the mTOR pathway. In this study, we investigated the effect of SRL-based immunosuppression on the prognosis of LT recipients with HCC beyond the Milan criteria based on TSC1/2 expression and explored the effect of TSC1 on HCC in vitro and in vivo. Read More

Int Urol Nephrol 2021 Apr 25. Epub 2021 Apr 25.

Department of Urology, JR Tokyo General Hospital, Tokyo, Japan.

Purpose: The most common renal symptoms of tuberous sclerosis complex (TSC) are angiomyolipomas (AMLs) and renal cysts; however, some patients with TSC also develop urolithiasis. We retrospectively investigated the characteristics and treatment of urolithiasis associated with TSC.

Methods: We analyzed 142 patients who met the diagnostic criteria for TSC, of whom 20 (14. Read More

Front Neurol 2021 9;12:627672. Epub 2021 Apr 9.

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

Tuberous sclerosis complex (TSC) is a genetic condition that causes benign tumors to grow in multiple organ systems. Nonfunctional pancreatic neuroendocrine tumors (PNETs) are a rare clinical feature of TSC with no specific guidelines outlined for clinical management at this time. Our purpose is to calculate the frequency of nonfunctional PNETs as well as characterize the presentation, current clinical management, and assess the impact of systemic mammalian target of rapamycin (mTOR) on nonfunctional PNETs in TSC. Read More