Up-date sulla sclerosi tuberosa

Tuberous sclerosis is an autosomal dominant multisystem disease caused by two different genes, one located on chromosome 9q34 (TSC1) and the other on chromosome 16p13 (TSC2). The most common major neurological symptoms are epilepsy and mental retardation. Neuroimaging techniques will accurately depict the frequency and extent of anatomical involvement of brain structures. This involvement is the result of impaired control of cell proliferation, migration and differentiation leading to the development of hamartomas in different organs and tissues. We report our findings in a series of 93 patients recruited at the Paediatric Clinic of Siena University Hospital.

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Contribution of the CK2 Catalytic Isoforms α and α’ to the Glycolytic Phenotype of Tumor Cells

Cells ◽

10.3390/cells10010181 ◽

2021 ◽

Vol 10 (1) ◽

pp. 181

Author(s):

Francesca Zonta ◽

Christian Borgo ◽

Camila Paz Quezada Meza ◽

Ionica Masgras ◽

Andrea Rasola ◽

...

Keyword(s):

Cell Proliferation ◽

Protein Kinase ◽

Cancer Cells ◽

Tumor Cells ◽

Therapeutic Strategies ◽

The Other ◽

Osteosarcoma Cell ◽

Monomeric Form ◽

New Information

CK2 is a Ser/Thr protein kinase overexpressed in many cancers. It is usually present in cells as a tetrameric enzyme, composed of two catalytic (α or α’) and two regulatory (β) subunits, but it is active also in its monomeric form, and the specific role of the different isoforms is largely unknown. CK2 phosphorylates several substrates related to the uncontrolled proliferation, motility, and survival of cancer cells. As a consequence, tumor cells are addicted to CK2, relying on its activity more than healthy cells for their life, and exploiting it for developing multiple oncological hallmarks. However, little is known about CK2 contribution to the metabolic rewiring of cancer cells. With this study we aimed at shedding some light on it, especially focusing on the CK2 role in the glycolytic onco-phenotype. By analyzing neuroblastoma and osteosarcoma cell lines depleted of either one (α) or the other (α’) CK2 catalytic subunit, we also aimed at disclosing possible pro-tumor functions which are specific of a CK2 isoform. Our results suggest that both CK2 α and α’ contribute to cell proliferation, survival and tumorigenicity. The analyzed metabolic features disclosed a role of CK2 in tumor metabolism, and suggest prominent functions for CK2 α isoform. Results were also confirmed by CK2 pharmacological inhibition. Overall, our study provides new information on the mechanism of cancer cells addiction to CK2 and on its isoform-specific functions, with fundamental implications for improving future therapeutic strategies based on CK2 targeting.

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Exon Splice Enhancer Mutation (GH-E32A) Causes Autosomal Dominant Growth Hormone Deficiency

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2007-0857 ◽

2007 ◽

Vol 92 (11) ◽

pp. 4427-4435 ◽

Cited By ~ 21

Author(s):

Vibor Petkovic ◽

Didier Lochmatter ◽

James Turton ◽

Peter E. Clayton ◽

Peter J. Trainer ◽

...

Keyword(s):

Cell Proliferation ◽

Autosomal Dominant ◽

Secretory Granules ◽

Cellular Level ◽

Hormone Deficiency ◽

Mutant Form ◽

Splice Enhancer ◽

Exon Splice ◽

Microscopy Analysis ◽

Derived Data

Abstract Context and Objective: Alteration of exon splice enhancers (ESE) may cause autosomal dominant GH deficiency (IGHD II). Disruption analysis of a (GAA) (n) ESE motif within exon 3 by introducing single-base mutations has shown that single nucleotide mutations within ESE1 affect pre-mRNA splicing. Design, Setting, and Patients: Confirming the laboratory-derived data, a heterozygous splice enhancer mutation in exon 3 (exon 3 + 2 A→C) coding for GH-E32A mutation of the GH-1 gene was found in two independent pedigrees, causing familial IGHD II. Because different ESE mutations have a variable impact on splicing of exon 3 of GH and therefore on the expression of the 17.5-kDa GH mutant form, the GH-E32A was studied at the cellular level. Interventions and Results: The splicing of GH-E32A, assessed at the protein level, produced significantly increased amounts of 17.5-kDa GH isoform (55% of total GH protein) when compared with the wt-GH. AtT-20 cells coexpressing both wt-GH and GH-E32A presented a significant reduction in cell proliferation as well as GH production after forskolin stimulation when compared with the cells expressing wt-GH. These results were complemented with confocal microscopy analysis, which revealed a significant reduction of the GH-E32A-derived isoform colocalized with secretory granules, compared with wt-GH. Conclusion: GH-E32A mutation found within ESE1 weakens recognition of exon 3 directly, and therefore, an increased production of the exon 3-skipped 17.5-kDa GH isoform in relation to the 22-kDa, wt-GH isoform was found. The GH-E32A mutant altered stimulated GH production as well as cell proliferation, causing IGHD II.

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SPECT Scan in Somatization Disorder Patients: An Exploratory Study of Eleven Cases

Australian & New Zealand Journal of Psychiatry ◽

10.1046/j.1440-1614.2001.00909.x ◽

2001 ◽

Vol 35 (3) ◽

pp. 359-363 ◽

Cited By ~ 37

Author(s):

Javier Garcia-Campayo ◽

Concepcion Sanz-Carrillo ◽

Teresa Baringo ◽

Concepción Ceballos

Keyword(s):

Computed Tomography ◽

Single Photon ◽

Photon Emission ◽

Spect Imaging ◽

The Other ◽

University Hospital ◽

Somatization Disorder ◽

Emission Computed Tomography ◽

Axis I ◽

Pain Symptoms

Objective: There are no previous studies using single photon emission computed tomography (SPECT) scans in somatization disorder (SD) patients. The aim of this paper is to assess SPECT imaging abnormalities in SD patients and study any relation to laterality. Method: Eleven SD patients from the Somatization Disorder Unit of Miguel Servet University Hospital, Zaragoza, Spain, not fulfilling criteria for any other psychiatric disorder and showing normal computed tomography (CT) and magnetic resonance imaging (MRI) images were studied with SPECT. Patients with DSM-IV axis I comorbidity were ruled out because it has been demonstrated that SPECT scans can show abnormalities in patients with depression and anxiety disorders. The technique used for SPECT was 99mTc-D,1,hexamethylpropyleneamide- oxime (99mTc-HMPAO) in four patients and 99mTc-bicisate in the other seven. The SPECT scans were evaluated without knowledge of clinical data and entirely by visual inspection. Results: Seven out of 11 (63.6%) SD patients showed hypoperfusion in SPECT imaging. In four cases there was hypoperfusion in the non-dominant hemisphere and the predominance of pain symptoms took place in the contralateral hemibody. In the other three patients hypoperfusion was bilateral. The anatomical regions affected were cerebellum (four cases), frontal and prefrontal areas (three cases), temporoparietal areas (two cases) and the complete hemisphere (one case). Conclusions: A proportion of SD patients may present hypoperfusion in SPECT images, uni- or bilaterally, in different brain areas. Possible aetiological explanations for this finding are discussed. Controlled studies are necessary to confirm or refute this hypothesis.

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An evolutionary and developmental approach toward understanding of growth variations of two closely related dwarfism of Galium verum

Biologia ◽

10.2478/s11756-014-0479-0 ◽

2014 ◽

Vol 69 (12) ◽

Cited By ~ 1

Author(s):

Keum Jeong ◽

Jae-Hong Pak ◽

Jeong Kim

Keyword(s):

Cell Proliferation ◽

Genetic Factors ◽

Expression Patterns ◽

Mrna Differential Display ◽

Growth Patterns ◽

The Other ◽

Differential Growth ◽

Developmental Approach ◽

Differential Display Method ◽

Low Activity

AbstractGalium L. is one of the largest and most widespread genus of Rubiaceae, consisting of more than 650 species worldwide. Galium verum var. asiaticum (G. verum a.) is a perennial herbaceous and widely distributed in in Korea peninsula. On the other hand, Galium verum var. asiaticum for. pusillum (G. verum a.p.) is endemic to Korea, inhabiting only on high land of Mt. Halla of Jeju. G. verum a.p. appears to be a dwarfism of G. verum a. We wondered what physiological, environmental, or genetic factors rendered those two taxa morphologically differentiated. We found that G. verum a.p. shows a low activity of the cell proliferation and was not associated with responsiveness contents of auxin and gibberellins. In order to search for genetic factors involved, we carried out an mRNA differential display method using the ACPs, and isolated several different expression genes between the two taxa. We chose one of those genes, which encoded RADIALIS-like proteins: GvaRADL1 from G. verum a. and GvapRADL1 from G. verum a.p. We discuss the relevancy of the genetic variations in regard to the differential expression patterns of those genes and the differential growth patterns of the two variants.

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Glomerulonephritis in schistosomiasis with mesangial IgM deposits

Memórias do Instituto Oswaldo Cruz ◽

10.1590/s0074-02761981000200009 ◽

1981 ◽

Vol 76 (2) ◽

pp. 181-188 ◽

Cited By ~ 3

Author(s):

Ageu Godoy Magalhães Filho ◽

Antônio Victoriano Barbosa ◽

Teresa Cristina Ferreira

Keyword(s):

Cell Proliferation ◽

Light Microscopy ◽

Immunofluorescence Microscopy ◽

The Other ◽

Proliferative Glomerulonephritis ◽

Mesangial Proliferative Glomerulonephritis ◽

Normal Pattern ◽

Glomerular Lesions ◽

Capillary Walls ◽

Igm Deposits

Twenty one cases of hepatoesplenic schistosomiasis patients without clinical and laboratory evidence of renal disease, were studied by surgical biopsies using light microscopy and immunofluorescence. The cases were classified histologically as: normal pattern (6 cases); minimal changes (6 cases); and mesangial proliferative glomerulonephritis (9 cases). By the immunofluorescence microscopy using anti IgM, IgG, IgA and C3, the predominant finding in all biopsies, except the normal cases, was granular deposits of IgM in the mesangium along with C3. On the other hand, IgG was present in all cases including normal biopsies along the capillary walls. However IgG was also present in the mesangium only in cases with glomerular lesions. This finding may well be similar to that recently described as IgM mesangial nephropathy. According to our cases a mesangial proliferative glomerulonephritis, characterized by segmental cell proliferation and deposition of IgM in the mesangium, is probably the entity found in the early stages of mansonic schistosomiasis.

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A comprehensive clinical and laboratory evaluation of 224 patients with persistent symptoms attributed to presumed tick-bite exposure

PLoS ONE ◽

10.1371/journal.pone.0247384 ◽

2021 ◽

Vol 16 (3) ◽

pp. e0247384

Author(s):

Kenneth Nilsson ◽

Elisabet Skoog ◽

Viktor Jones ◽

Lisa Labbé Sandelin ◽

Christina Björling ◽

...

Keyword(s):

Lyme Disease ◽

The Other ◽

University Hospital ◽

Tick Bite ◽

Laboratory Evaluation ◽

Disease Course ◽

Swedish Population ◽

Persistent Symptoms ◽

Chronic Lyme Disease ◽

Multifactorial Approach

BackgroundPersistent symptoms attributed to presumed tick-bite exposure constitute an unresolved medical controversy. We evaluated whether Swedish adults who met the criteria for post-treatment Lyme disease syndrome (PTLDS) exhibited characteristics distinguishable from adults who did not, but who displayed similar symptoms and disease course after suspected previous tick-bite infection (TBI).Methods and findingsDuring 2015–2018, 255 patients–referred to the Centre for Vector-borne Infections, Uppsala University Hospital, Sweden with symptoms lasting longer than six months–were recruited. Of this group, 224 completed the study. Each patient was examined by an infectious disease specialist and, besides a full medical history, underwent a panel of blood and cerebrospinal fluid laboratory tests including hematological, biochemical, microbiological and immunological analyses, and the RAND-36 scale to measure quality of life. For analysis purposes, patients were divided into five subgroups, of which one represented PTLDS. According to serological results indicating TBI and documented/ reported objective signs of Lyme disease, 85 (38%) patients fulfilled the criteria for PTLDS and were compared with the other 139 (62%) serologically classified patients. In the PTLDS group, erythema chronicum migrans (ECM) was documented/reported in 86% of patients, previous neuroborreliosis in 15%, and acrodermatitis chronica atroficans (ACA) in 3.5%. However, there were no significant differences regarding symptoms, laboratory results or disease course between patients with PTLDS and those without laboratory evidence ofBorreliaexposition. Most reported symptoms were fatigue-related (70%), musculoskeletal (79%), neurological (82%) and neurocognitive (57%). Tick bites were recalled by 74%. The RAND-36 score was significantly below that of the general Swedish population. Signs of immunological/inflammatory reactivity with myositis antibodies were detected in 20% of patients, fibrinogen levels were moderately increased in 21% and elevated rheumatoid factor in 6%.ConclusionsThe PTLDS group did not differ exclusively in any respect from the other subgroups, which either lacked previously documented/reported evidence of borreliosis or even lacked detectable serological signs of exposure to Lyme disease. The results suggest that symptoms often categorized as Chronic-Lyme-Disease (CLD) in the general debate, cannot be uniquely linked to Lyme disease. However, approximately 20% of the total group of patients showed signs of autoimmunity. Further studies are needed to elucidate the underlying causes and mechanisms of PTLDS and there is reason to consider a multifactorial approach.

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Changes in thalamocortical connectivity as a potential mechanism of cross-modal plasticity in congenitally blind individuals

10.1101/449009 ◽

2018 ◽

Author(s):

Theo Marins ◽

Maite Russo ◽

Erika Rodrigues ◽

jorge Moll ◽

Daniel Felix ◽

...

Keyword(s):

Visual Cortex ◽

Cortical Thickness ◽

Visual Information ◽

Brain Plasticity ◽

Temporal Cortex ◽

Occipital Cortex ◽

Brain Structures ◽

Congenitally Blind ◽

Blind Individuals ◽

Neuroimaging Techniques

ABSTRACTEvidence of cross-modal plasticity in blind individuals has been reported over the past decades showing that non-visual information is carried and processed by classical “visual” brain structures. This feature of the blind brain makes it a pivotal model to explore the limits and mechanisms of brain plasticity. However, despite recent efforts, the structural underpinnings that could explain cross-modal plasticity in congenitally blind individuals remain unclear. Using advanced neuroimaging techniques, we mapped the thalamocortical connectivity and assessed cortical thickness and integrity of white matter of congenitally blind individuals and sighted controls to test the hypothesis that aberrant thalamocortical pattern of connectivity can pave the way for cross-modal plasticity. We described a direct occipital takeover by the temporal projections from the thalamus, which would carry non-visual information (e.g. auditory) to the visual cortex in congenitally blinds. In addition, the amount of thalamo-occipital connectivity correlated with the cortical thickness of primary visual cortex (V1), supporting a probably common (or related) reorganization phenomena. Our results suggest that aberrant thalamocortical connectivity as one possible mechanism of cross-modal plasticity in blinds, with potential impact on cortical thickness of V1.SIGNIFICANT STATEMENTCongenitally blind individuals often develop greater abilities on spared sensory modalities, such as increased acuity in auditory discrimination and voice recognition, when compared to sighted controls. These functional gains have been shown to rely on ‘visual’ cortical areas of the blind brain, characterizing the phenomenon of cross-modal plasticity. However, its anatomical underpinnings in humans have been unsuccessfully pursued for decades. Recent advances of non-invasive neuroimaging techniques allowed us to test the hypothesis of abnormal thalamocortical connectivity in congenitally blinds. Our results showed an expansion of the thalamic connections to the temporal cortex over those that project to the occipital cortex, which may explain, the cross-talk between the visual and auditory systems in congenitally blind individuals.

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Benzamide on chondrocytic differentiation in chick limb bud cell culture

Development ◽

10.1242/dev.85.1.163 ◽

1985 ◽

Vol 85 (1) ◽

pp. 163-175

Author(s):

Shinobu Nakanishi ◽

Edwin M. Uyeki

Keyword(s):

Cell Culture ◽

Cell Proliferation ◽

Trichloroacetic Acid ◽

Rna Synthesis ◽

Limb Bud ◽

The Other ◽

Transferase Activity ◽

Dna And Rna ◽

Atp Levels ◽

Chondrocytic Differentiation

Benzamide, an inhibitor of (ADP-ribose) transferase, augmented chondrocytic differentiation of chick limb bud mesenchymal cells in micromass cultures; the incorporation of 35SO42− into the trichloroacetic-acid-insoluble constituents of cell masses as well as the formation of cartilage nodules (Nishio, Nakanishi, Doull & Uyeki, 1983) occurred about 24h earlier than in untreated cultures and continued to be enhanced in benzamide-treated cultures of stage 23- to 24-chick limb bud cells. Benzamide also significantly increased cell proliferation. However, benzamide did not affect DNA and RNA syntheses except for one period: 24 to 30 h after the start of culture, RNA synthesis was stimulated. From 48h of culture, (ADP-ribose) transferase activity decreased daily in untreated cultures, whereas benzamide treatment diminished (ADP-ribose) transferase activity 24 h earlier. On the other hand, intracellular NAD levels increased daily in untreated cultures, and benzamide significantly increased the NAD levels above untreated cultures. ATP levels did not differ significantly during the culture period, and benzamide did not affect ATP levels.

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Pre-Eruptive Coronal Resorption and Congenitally Missing Teeth in a Patient with Amelogenesis Imperfecta: A Case Report

European Journal of Dentistry ◽

10.1055/s-0039-1697421 ◽

2009 ◽

Vol 03 (02) ◽

pp. 140-144

Author(s):

Ozkan Miloglu ◽

Osman Fatih Karaalioglu ◽

Fatma Caglayan ◽

Zeynep Duymus Yesil

Keyword(s):

Autosomal Recessive ◽

Autosomal Dominant ◽

The Other ◽

Amelogenesis Imperfecta ◽

Clinical Report ◽

Missing Teeth ◽

Second Molar ◽

Molar Teeth ◽

Congenitally Missing Teeth ◽

Congenitally Missing

ABSTRACTThis clinical report describes a male with autosomal recessive generalized hypoplastic amelogenesis imperfecta. This case is unusual in coronal resorptions prior to tooth eruption. This finding has been reported in some cases of autosomal recessive, autosomal dominant and X linked amelogenesis imperfecta (AI). In reported cases, the defects were usually small and occurred in a maximum of 2 teeth per person. In our case, pre-eruptive coronal resorptions affected three second molar teeth from both jaws. On the other hand; congenitally missing teeth and malocclusion were present in this case. Recall evaluations at 3 month intervals occurred for a period of 2 years and then prosthodontic management began. (Eur J Dent 2009;3:140-144)

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Precis of Vigor: Neuroeconomics of movement control

Behavioral and Brain Sciences ◽

10.1017/s0140525x20000667 ◽

2020 ◽

pp. 1-10

Author(s):

Reza Shadmehr ◽

Alaa A. Ahmed

Keyword(s):

Decision Making ◽

New York ◽

Neural Circuits ◽

Movement Control ◽

Brain Structures ◽

The Other ◽

Neural Basis ◽

Hand Control ◽

Measured Activity ◽

The Brain

Abstract Why do we run toward people we love, but only walk toward others? Why do people in New York seem to walk faster than other cities? Why do our eyes linger longer on things we value more? There is a link between how the brain assigns value to things, and how it controls our movements. This link is an ancient one, developed through shared neural circuits that on one hand teach us how to value things, and on the other hand control the vigor with which we move. As a result, when there is damage to systems that signal reward, like dopamine and serotonin, that damage not only affects our mood and patterns of decision making, but how we move. In this book, we first ask why in principle evolution should have developed a shared system of control between valuation and vigor. We then focus on the neural basis of vigor, synthesizing results from experiments that have measured activity in various brain structures and neuromodulators, during tasks in which animals decide how patiently they should wait for reward, and how vigorously they should move to acquire it. Thus, the way we move unmasks one of our well-guarded secrets: how much we value the thing we are moving toward.

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