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2.
Plant Foods Hum Nutr ; 71(3): 330-8, 2016 Sep.
Article in English | MEDLINE | ID: mdl-27392960

ABSTRACT

In this paper the diversity of fruit quality within nine loquat cultivars, including five international affirmed cultivars (Algerie, Golden Nugget, Peluche, Bueno, El Buenet) and four local cultivars (Sanfilippara, Nespolone di Trabia, BRT20 and Claudia), were investigated in order to discriminate the variation in pomological characteristics, sensory profile, and antioxidant properties. Finally, to evaluate potential bioactivity, antiproliferative activity of hydrophilic extracts from loquat fruits was assessed, at dietary relevant concentrations, against three human epithelial cell lines. Even though the international cultivars confirmed an appropriate level of commercial qualities in association to high levels in antioxidant compounds, the local cultivars revealed the best performances in a wide range of chemical-physical and sensory characteristics. Concerning bioactivity, our results indicate that hydrophilic extracts from all tested cultivars showed concentration-dependent antiproliferative activity with a significant variability of effects between different cell lines and between different cultivars. HeLa cells, the most sensitive and hydrophilic extracts from Peluche, showed the highest inhibitory effect followed by Nespolone di Trabia and Claudia. The results of this trial provide useful information on the pomological traits and the not yet known specific nutritional and functional properties of loquat fruits. Our data, besides helping to promote specific local cultivars, could serve to establish a database that will permit to improve the utilization of specific genetic resources in breeding programs.


Subject(s)
Dietary Supplements , Eriobotrya/chemistry , Fruit/chemistry , Taste , Antioxidants/analysis , Antioxidants/pharmacology , Ascorbic Acid/analysis , Ascorbic Acid/pharmacology , Caco-2 Cells , Carotenoids/analysis , Carotenoids/pharmacology , Cell Proliferation/drug effects , Chemical Phenomena , Eriobotrya/classification , Food Quality , HeLa Cells , Humans , MCF-7 Cells , Mediterranean Region , Phenols/analysis , Phenols/pharmacology , Plant Extracts/analysis , Plant Extracts/pharmacology
3.
J Mater Sci Mater Med ; 27(3): 52, 2016 Mar.
Article in English | MEDLINE | ID: mdl-26787484

ABSTRACT

In implantology, as an alternative approach to the use of antibiotics, direct surface modifications of the implant addressed to inhibit bacterial adhesion and to limit bacterial proliferation are a promising tactic. The present study evaluates in an in vivo normal model the osteogenic response and the osteointegration of an anodic spark deposition nanostructured titanium surface doped with gallium (ASD + Ga) in comparison with two other surface treatments of titanium: an anodic spark deposition treatment without gallium (ASD) and an acid etching treatment (CTR). Moreover the study assesses the osteoprotective potential and the antibacterial effect of the previously mentioned surface treatments in an experimentally-induced peri-implantitis model. The obtained data points out a more rapid primary fixation in ASD and ASD + Ga implants, compared with CTR surface. Regarding the antibacterial properties, the ASD + Ga surface shows osteoprotective action on bone peri-implant tissue in vivo as well as an antibacterial effect within the first considered time point.


Subject(s)
Nanostructures/chemistry , Osteogenesis , Titanium , Animals , Femoral Fractures/pathology , Femoral Fractures/surgery , Gallium/adverse effects , Gallium/chemistry , Male , Materials Testing , Microscopy, Electron, Scanning , Prostheses and Implants , Prosthesis-Related Infections/pathology , Rabbits , Surface Properties , Tissue Engineering/methods
4.
Anat Histol Embryol ; 44(5): 328-32, 2015 Oct.
Article in English | MEDLINE | ID: mdl-25142967

ABSTRACT

A high number of differences exist in bone histological features depending on the species, breed, age and bone. Moreover, osteon distribution may vary in the different sides of a bone as a consequence of different biomechanical strains. The aim of this work was to study the distribution and morphology of osteons in different sides of the equine femoral diaphysis with the attempt to correlate them to the main strains operating on them. The following parameters of secondary osteons and Haversian canals were measured in the transverse sections of diaphyses: perimeter, area, minimum and maximum diameter, eccentricity and osteon population density. A typical Haversian tissue was observed with elliptic secondary osteons consisting in about 10 well-defined lamellae surrounding a circular Haversian canal. Quantitative analysis displays a different population density of secondary osteons depending on the side. The caudal and medial sides, where compression strains are higher, have more secondary osteons in comparison with the cranial and lateral sides, where tension strains are prevalent. These data suggest that secondary osteon population density may depend on the predominant strains. Even the elliptical shape of secondary osteons may be related to biomechanical strains, as their major axes are oriented cranio-caudally parallel to prevalent strains.


Subject(s)
Femur/anatomy & histology , Haversian System/anatomy & histology , Horses/anatomy & histology , Animals
5.
Res Vet Sci ; 94(3): 388-93, 2013 Jun.
Article in English | MEDLINE | ID: mdl-23186802

ABSTRACT

Immortalized cell lines from fetal brain are an experimental model for studying the in vitro molecular pathways regulating neural cell differentiation and the development of neural networks. The procedures are described to obtain an established cell line from the 90-day old fetal sheep hypothalamus. Viral oncogene LT-SV40 transformation was used to isolate a stable cell line (ENOS-01) that was characterized immunocytochemically. Immortalized cells can be classified as an endothelial cell line of hypothalamic microvasculature. Furthermore, mRNA expression and immunocytochemical of estrogen receptors α and ß were also evaluated. Since it is known that cerebral vessels are directly targeted by sex steroids, our established cell line represents an alternative system to study estradiol/receptor interactions during brain development. Our in vitro model can provide a tool to investigate the complex relationships among the cell types forming the blood-brain barrier, which is known to be involved in the pathogenesis of sheep transmissible neurological diseases.


Subject(s)
Endothelium, Vascular/cytology , Hypothalamus/cytology , Animals , Cell Line , Cells, Cultured , Endothelium, Vascular/embryology , Hypothalamus/blood supply , Hypothalamus/embryology , Male , Polymerase Chain Reaction/veterinary , Sheep/genetics , Simian virus 40/genetics , Transfection
6.
Eur J Histochem ; 53(4): e28, 2009 Dec 29.
Article in English | MEDLINE | ID: mdl-22073360

ABSTRACT

A lot of evidence testifies that aromatase is expressed in the central nervous system where it has been detected not only in hypothalamic and limbic regions but also in the cerebral cortex and spinal cord. In physiological conditions, aromatase is expressed exclusively by neurons, where it has been mainly found in cell bodies, processes and synaptic terminals. Moreover, primary cultured cortical astrocytes from female rats are more resistant to oxidant cell death than those from males, suggesting a protective role of estradiol. The aim of this study was to evaluate changes in aromatase expression in response to 3-nitro-L-tyrosine, a marker of oxidative stress, in primary neuronal cell cultures from brains of 60-day old sheep fetuses. Cells were identified as neurons by using class III ß-tubulin, a marker of neuronal cells. Two morphological types were consistently recognizable: i) bipolar cells with an oval cell body; ii) multipolar cells whose processes formed a wide net with those of adjacent cells. In situ hybridization technique performed on 60-day old fetal neurons revealed that in baseline conditions aromatase gene expression occurs. Importantly, cells exposed to 360 µM 3-nitro-L-tyrosine were fewer and showed more globular shape and shorter cytoplasmic processes in comparison to control cells. The immunocytochemical study with anti-aromatase antibody revealed that cells exposed to 360 µM 3-nitro-L-tyrosine were significantly more immunoreactive than control cells. Thus, it can be postulated that the oxidant effects of the amino acid analogue 3-nitro-L-tyrosine could be counterbalanced by an increase in aromatase expression that in turn can lead to the formation of neuroprotective estradiol via aromatization of testosterone.


Subject(s)
Aromatase/metabolism , Brain/cytology , Brain/embryology , Neurons/enzymology , Animals , Aromatase/drug effects , Brain/enzymology , Female , Male , Neurons/cytology , Neurons/drug effects , Oxidative Stress/drug effects , Primary Cell Culture , Sheep , Tyrosine/administration & dosage , Tyrosine/analogs & derivatives
7.
Arch Ital Biol ; 146(2): 107-17, 2008 Jun.
Article in English | MEDLINE | ID: mdl-18822798

ABSTRACT

The microtubular network of neurons is involved in several functions such as formation and tropism of cellular processes, cell division and intracellular transport. A lot of evidences testify that the microtubular network of neurons can be impaired by oxidative stress. A condition of oxidative stress is often possible when D-glucose overloads its metabolic pathway, resulting in an increase in reactive oxygen species and subsequent neurological disorders. The aim of this work was to check in undifferentiated mouse neuroblastoma cells (C1300) the possible oxidative effects of D-glucose on microtubules. Using a concentration of 110mM D-glucose, cell morphology, growth rate, viability and catalase activity were seriously altered. Noteworthy, an increase in 3-nitro-L-tyrosine and a downregulation of tubulins was found in D-glucose-exposed cells, whereas another cytoskeletal proteins, namely actin, did not show any changes. In conclusion, microtubular network can be impaired by D-glucose through specific nitrosative effects, suggesting a possible mechanism at the basis of hyperglycemia-induced neuronal damage.


Subject(s)
Glucose/pharmacology , Microtubules/metabolism , Neurons/metabolism , Oxidative Stress/physiology , Tubulin/metabolism , Tyrosine/analogs & derivatives , Actins/metabolism , Animals , Cell Line, Tumor , Cell Proliferation/drug effects , Cell Survival/drug effects , Cell Survival/physiology , Cytoskeleton/drug effects , Down-Regulation/drug effects , Down-Regulation/physiology , Energy Metabolism/drug effects , Energy Metabolism/physiology , Hyperglycemia/metabolism , Hyperglycemia/pathology , Hyperglycemia/physiopathology , Mice , Microtubules/drug effects , Microtubules/pathology , Nerve Degeneration/metabolism , Nerve Degeneration/pathology , Nerve Degeneration/physiopathology , Neuroblastoma , Neurons/drug effects , Neurons/pathology , Oxidative Stress/drug effects , Tyrosine/metabolism , Tyrosine/pharmacokinetics
8.
Eur J Histochem ; 52(3): 163-8, 2008.
Article in English | MEDLINE | ID: mdl-18840556

ABSTRACT

Gonadal steroidogenesis can be influenced by direct neural links between the central nervous system and the gonads. It is known that androgen receptor (AR) is expressed in many areas of the rat brain involved in neuroendocrine control of reproduction,such as the cerebral cortex.It has been recently shown that the occipital cortex exerts an inhibitory effect on testicular stereoidogenesis by a pituitary-independent neural mechanism. Moreover, the complete transection of the corpus callosum leads to an increase in testosterone (T) secretion of hemigonadectomized rats. The present study was undertaken to analyze the possible corticocortical influences regulating male reproductive activities. Adult male Wistar rats were divided into 4 groups: 1) intact animals as control; 2) rats undergoing sham callosotomy; 3) posterior callosotomy; 4) gonadectomy and posterior callosotomy. Western blot analysis showed no remarkable variations in cortical AR expression in any of the groups except in group I where a significant decrease in AR levels was found. Similarly, both immunocytochemical study and cell count estimation showed a lower AR immunoreactivity in occipital cortex of callosotomized rats than in other groups. In addition, there was no difference in serum T and LH concentration between sham-callosotomized and callosotomized rats. In conclusion, our results showthat posterior callosotomy led to a reduction in AR in the right occipital cortex suggesting a putative inhibiting effect of the contralateral cortical area.


Subject(s)
Fertility , Occipital Lobe/metabolism , Receptors, Androgen/metabolism , Animals , Corpus Callosum/surgery , Luteinizing Hormone/blood , Male , Occipital Lobe/chemistry , Orchiectomy , Rats , Rats, Wistar , Receptors, Androgen/analysis , Testosterone/blood
9.
Anat Histol Embryol ; 37(6): 442-5, 2008 Dec.
Article in English | MEDLINE | ID: mdl-18671686

ABSTRACT

Bone microstructure of domestic herbivores is still not completely understood. Indeed, works focused on the bone histology of numerous Mammalian species frequently led to misunderstandings because of the high number of variations such as the kind of bone, section orientation, species, breed and age. Moreover, attempts to identify the species in archaeozoological studies by a mere qualitative approach have not been encouraging and in recent years quantitative methods, based on image processing and statistical analysis, have appeared. The present study was undertaken to determine whether morphometrical and morphological differences exist in the compact bone structure of the femur and humerus between horses and cows. Measurements such as area, perimeter, minimum and maximum diameter of osteons and Haversian canals as well as the osteonal density were carried out on cross sections of eight humeri and eight femurs of the two herbivores investigated. In agreement with other authors, the qualitative investigation confirmed that the compact bone of horses and cows can be classified as dense Haversian tissue. Osteons of the horse were more numerous and composed of a higher number of well-defined lamellae when compared with the cow. Diameter, perimeter and area of osteons and Haversian canals were always higher in horses than in cows and this pattern could be related to the different locomotor behaviour of these animals.


Subject(s)
Cattle/anatomy & histology , Femur/ultrastructure , Horses/anatomy & histology , Humerus/ultrastructure , Animals , Femur/anatomy & histology , Femur/cytology , Humerus/anatomy & histology , Humerus/cytology , Locomotion/physiology , Species Specificity
10.
Int Endod J ; 40(5): 386-90, 2007 May.
Article in English | MEDLINE | ID: mdl-17374138

ABSTRACT

AIM: To determine the frequency with which the histopathological diagnosis of periapical lesions contributes to a change in the clinical diagnosis. METHODOLOGY: Cases having a clinical diagnosis of disease resulting from dental pulp necrosis were selected from the database of the Oral Pathology Reference Institute between 1975 and 2005. Cases with different histopathological diagnoses were determined and information about age and gender of the patient, location of associated tooth, pulp status and the histopathological diagnosis were recorded. The percentage of nonendodontic periapical lesions was then determined. RESULTS: In the 30-year period, 32,423 [corrected] biopsy specimens were received. Overall 4006 (9.13%) had a clinical diagnosis of pulpal necrosis with associated pathosis in the periradicular area. Within this group, 26 cases (0.65%) had a histopathological diagnosis of nonendodontic pathology. Keratocystic odontogenic tumour was the most frequent nonendodontic lesion (11 cases) in the periradicular region followed by central giant cell granuloma (three cases), chronic sinusitis (three cases) and one case each of the following lesions: nasopalatine duct cyst, lateral periodontal cyst, calcifying cystic odontogenic tumour, ameloblastic fibroma, squamous odontogenic tumour, cemental dysplasia, haemangioma, foreign body cell granuloma and amalgam tattoo. CONCLUSIONS: The histopathological study of periapical pathosis can occasionally reveal nonendodontic lesions. Odontogenic tumours made up the largest group.


Subject(s)
Dental Pulp Necrosis/complications , Jaw Neoplasms/epidemiology , Odontogenic Tumors/epidemiology , Periapical Diseases/epidemiology , Adolescent , Adult , Aged , Child , Chile/epidemiology , Dental Pulp Necrosis/epidemiology , Female , Humans , Jaw Neoplasms/complications , Jaw Neoplasms/diagnosis , Male , Middle Aged , Odontogenic Tumors/complications , Odontogenic Tumors/diagnosis , Retrospective Studies
11.
Anat Histol Embryol ; 35(5): 319-24, 2006 Oct.
Article in English | MEDLINE | ID: mdl-16968252

ABSTRACT

This article examines the morphological features of the dog during the Roman Age on the basis of osseous and dental remains dug up in Pompeii. The material, consisting of 113 canine bones and teeth, was subjected to both morphological and morphometrical analyses and was compared with modern canine breeds. In most cases, the age at death, shoulder height and other phenotypic features were ascertained. The examined Pompeian canine population fell mainly into two categories: small- and large-sized animals. Among the former, one brachycephalic and two dolichocephalic subjects were included. Such morphological features agree with what is described in numerous texts and appears in mosaics, bas-reliefs and frescoes of the Roman Age. As small-sized dogs cannot be classified as Canes Venatici (sporting dogs), Canes Villatici (watch dogs) and Canes Pastorales (shepherd dogs) according to Columella's De re rustica, these animals may be considered as lapdogs.


Subject(s)
Bone and Bones/anatomy & histology , Dogs/anatomy & histology , Head/anatomy & histology , Animals , Cephalometry/methods , Cephalometry/veterinary , Female , Fossils , Male
12.
Arch Ital Biol ; 144(2): 63-73, 2006 May.
Article in English | MEDLINE | ID: mdl-16642786

ABSTRACT

3-nitro-L-tyrosine is formed by nitric oxide following different pathways such as NADPH oxidase, xanthine oxidase or glutamate NMDA receptor activation and is involved in the pathology of different neurological disorders. Unlike estradiol, a neuroprotective role of androgens against oxidative cell injury has not been fully investigated. This work targets the possible effects of testosterone on neuroblastoma cells exposed to 3-nitro-L-tyrosine. C1300 mouse undifferentiated neuroblastoma cells exposed to 3-nitro-L-tyrosine were cultured in the presence of testosterone. Morphological examination, proliferation and nuclear viability assays were performed. The expression of tyrosinated alpha-tubulin and incorporation of 3-nitro-L-tyrosine into protein were also estimated. Cells exposed to 3-nitro-L-tyrosine showed globular shape, reduced cytoplasmic processes and growth inhibition in comparison with controls. When testosterone was added to the medium, these changes were not evident. In addition, testosterone induced an upregulation of tyrosinated alpha-tubulin, a marker of neuronal plasticity, and a decrease in 3-nitro-L-tyrosine incorporation into tubulin. Our results suggest that testosterone exposure can diminish 3-nitro-L-tyrosine toxic effects on the morphology and growth rate of neuroblastoma cells. The upregulation of tyrosinated alpha-tubulin in testosterone-exposed cells would be consistent with concurrent plasticity events. Failure in alpha-tubulin nitration detected in cells exposed to both 3-nitro-L-tyrosine and testosterone, may support the idea that testosterone interferes with 3-nitro-L-tyrosine protein incorporation. Moreover, testosterone-induced neuroprotection likely entails a linkage with the androgen receptor as is suggested by the flutamide-induced inhibition of the hormone activity. Finally, the neuroprotective effects of testosterone in neuroblastoma cells could deal with the cellular antioxidant defence system, as shown by testosterone-induced increase in catalase activity.


Subject(s)
Catalase/metabolism , Neuroprotective Agents/metabolism , Oxidative Stress/physiology , Testosterone/metabolism , Tubulin/biosynthesis , Tyrosine/analogs & derivatives , Androgen Antagonists/pharmacology , Animals , Brain/metabolism , Catalase/drug effects , Cell Line, Tumor , Cell Proliferation/drug effects , Cell Shape/drug effects , Flutamide/pharmacology , Free Radicals/metabolism , Mice , Neuroblastoma , Neuronal Plasticity/drug effects , Neuronal Plasticity/physiology , Neurons/drug effects , Neurons/metabolism , Neuroprotective Agents/pharmacology , Oxidative Stress/drug effects , Receptors, Androgen/drug effects , Receptors, Androgen/metabolism , Testosterone/pharmacology , Tyrosine/metabolism , Up-Regulation/drug effects , Up-Regulation/physiology
13.
Arch Ital Biol ; 141(4): 171-9, 2003 Oct.
Article in English | MEDLINE | ID: mdl-14502831

ABSTRACT

The expression of the tyrosinated isoform of alpha-tubulin was monitored in rat frontal cortex, in order to investigate the neuronal plasticity changes occurring either in a mirror focus or in a deafferented area. A mirror focus was triggered by epidural implantation of a cobalt gelatin disk in the contralateral left somatosensory area (group one). A deafferented area was obtained by surgical removal of the left frontal cortex (group two). All animals including controls underwent EcoG recordings immediately before killing (45, 60, 90 days post surgery). The right frontal cortex was removed from all the animals and processed with Western blot method. EcoG recordings revealed a paroxysmal activity in epileptic rats, whereas in rats with frontal deafferentation and controls, EcoG activity was normal. A significant increase in tyrosinated alpha-tubulin expression was detected both in the mirror focus (group one) and the "non-epileptic" deafferented frontal cortex (group two) in comparison with controls (group three). The transcallosal deafferentation, which is involved in both epileptogenic and non-epileptogenic lesions, is supposed to play a role in the mechanism responsible for the plasticity responses recorded in the cortical areas studied.


Subject(s)
Cerebral Cortex/metabolism , Epilepsy/metabolism , Neuronal Plasticity/physiology , Neurons/metabolism , Tubulin/metabolism , Tyrosine/metabolism , Action Potentials/physiology , Animals , Cerebral Cortex/injuries , Cerebral Cortex/physiopathology , Cobalt/adverse effects , Corpus Callosum/injuries , Corpus Callosum/physiology , Denervation , Disease Models, Animal , Electroencephalography , Epilepsy/physiopathology , Functional Laterality/physiology , Male , Neurons/pathology , Prostheses and Implants/adverse effects , Rats , Rats, Wistar , Up-Regulation/physiology
16.
Am J Med Genet ; 104(2): 127-30, 2001 Nov 22.
Article in English | MEDLINE | ID: mdl-11746042

ABSTRACT

We report on a girl with a trisomy 1q42-q44 due to an inverted duplication of this region, associated with a terminal deletion of the long arm of the rearranged chromosome 1. Both the large duplication (more than 30 cM) and the small deletion were detected by FISH. Complete karyotype was: (46,XX, inv dup(1)(q44q42).ish(dup del 1)(q44q42)(D1S446x2, D1S423x2, tel1q-). The phenotype of the patient is characterized by macrocephaly with prominent forehead, downslanting palpebral fissures, micrognathia, and psychomotor retardation. All these clinical features are the same as observed for the typical trisomy 1q42-qter syndrome. The phenotypic effects of the inversion and the terminal deletion of 1q in addition to the trisomy are discussed here.


Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 1 , Gene Duplication , Trisomy , Child , Chromosome Banding , Developmental Disabilities/genetics , Female , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Phenotype
17.
Neurosci Lett ; 312(1): 5-8, 2001 Oct 12.
Article in English | MEDLINE | ID: mdl-11578832

ABSTRACT

The effects of aluminum(III) on microtubular meshwork have been investigated using cultured murine neuroblastoma cells grown in a medium containing aluminum lactate at defined metal concentrations (10-20 microM). A role of aluminum(III) in promoting neuronal plasticity events is suggested. These events including sprouting and neurite outgrowth are associated with an increased tyrosine-tubulin (Tyr-Tub) expression, which can be due to the enhanced needs of recently formed, highly dynamic microtubules typical of neuronal plasticity. After 48 and 72 h aluminum exposure, an upregulation of Tyr-Tub expression is detected and this is concentration-dependent. A high amount of Tyr-Tub is observed also in non-treated cells, although later than in aluminum-exposed cells. Thus, it is possible that aluminum(III) accelerates neuronal plasticity events, for which Tyr-Tub is confirmed to be a useful marker.


Subject(s)
Aluminum/toxicity , Central Nervous System/drug effects , Microtubules/drug effects , Neuronal Plasticity/drug effects , Neurons/drug effects , Neurotoxins/toxicity , Tubulin/analogs & derivatives , Tumor Cells, Cultured/drug effects , Aluminum Compounds/pharmacology , Animals , Cell Differentiation/drug effects , Cell Differentiation/physiology , Central Nervous System/metabolism , Culture Media , Dose-Response Relationship, Drug , Environmental Exposure/adverse effects , Fluorescent Antibody Technique , Gene Expression/drug effects , Gene Expression/physiology , Lactates/pharmacology , Mice , Microtubules/physiology , Neurites/drug effects , Neurites/metabolism , Neurites/ultrastructure , Neuroblastoma , Neuronal Plasticity/physiology , Neurons/cytology , Neurons/metabolism , Time Factors , Tubulin/drug effects , Tubulin/metabolism , Tumor Cells, Cultured/cytology , Tumor Cells, Cultured/metabolism , Up-Regulation/drug effects , Up-Regulation/physiology
18.
Acta Paediatr ; 89(4): 436-41, 2000 Apr.
Article in English | MEDLINE | ID: mdl-10830456

ABSTRACT

Cardiac disease is the primary cause of death in patients affected by thalassaemia major. In most cases diastolic dysfunction precedes the onset of systolic impairment at a time when appropriate therapy can prevent progression of cardiac damage. We have assessed the pattern of left ventricular filling by Doppler echocardiography in six transfusion-dependent thalassaemic patients. They were re-evaluated 5 y after the first observation, after additional blood transfusions and consequent iron load. We registered a significantly impaired relaxation pattern in all of them. A state of cardiac anoxia has been hypothesized.


Subject(s)
Diastole , Echocardiography, Doppler , Ventricular Function, Left , beta-Thalassemia , beta-Thalassemia/physiopathology , Adolescent , Child , Child, Preschool , Disease Progression , Female , Humans , Longitudinal Studies , Male , beta-Thalassemia/diagnostic imaging
19.
Am J Med Genet ; 86(1): 82-5, 1999 Sep 03.
Article in English | MEDLINE | ID: mdl-10440835

ABSTRACT

Geleophysic dysplasia (MIM *231050) is a rare autosomal recessive disorder, characterized by short stature with short limbs, brachydactyly, joint contractures, and a good-natured facial appearance. Infiltration of liver and cardiac leaflets has been reported in some patients. Based on the clinical picture and the detection of lysosome-like inclusions in hepatocytes, tracheal mucosa, chondrocytes, and skin fibroblasts, the underlying cause of the conditions is considered to be a generalized lysosomal storage defect. We report on a new case born to consanguineous parents, first observed at age 8 months, and for whom a 7-year follow-up is available.


Subject(s)
Abnormalities, Multiple , Face/abnormalities , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/genetics , Abnormalities, Multiple/metabolism , Child , Consanguinity , Follow-Up Studies , Genes, Recessive , Humans , Male , Prognosis
20.
Eur J Histochem ; 43(4): 285-91, 1999.
Article in English | MEDLINE | ID: mdl-10682266

ABSTRACT

Tubulin heterogeneity was observed in the rat brain, where these proteins can vary in different neurons suggesting multiple functions. In this paper, the different expression of tubulins in cerebral cortex between newborn and adult rats was analyzed by Western blot and immunocytochemical methods, using anti-tubulin antibodies. Our results showed that tubulins were present at higher levels in the newborn than in the adult cerebral cortex. In newborn rats, a marked staining of the perikarya and basal dendrites of pyramidal cells was noted. This significant expression of tubulins in the newborn cerebral cortex could be related to the major needs of tubulins in developing neurons. The higher amount in tyrosine-tubulin and class III beta-tubulin could be consistent with the state of "dynamic instability", typical of the microtubular network of neurons during brain development.


Subject(s)
Cerebral Cortex/growth & development , Cerebral Cortex/metabolism , Neurons/metabolism , Tubulin/biosynthesis , Aging/metabolism , Animals , Animals, Newborn , Blotting, Western , Cerebral Cortex/cytology , Female , Immunohistochemistry , Male , Neurons/cytology , Protein Isoforms/biosynthesis , Rats , Rats, Wistar
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