Publications by authors named "Reza Sharifi"

30 Publications

  • Page 1 of 1

Displacement of the third molar bud to the sublingual space during open reduction and internal fixation of mandibular angle fracture: A case report.

Clin Case Rep 2020 Dec 30;8(12):3479-3482. Epub 2020 Oct 30.

Tehran university of Medical Sciences Tehran Iran.

This case could remind surgeons to consider the possibility of displacement of the impacted third molar in the fractured line to adjacent spaces, during open reduction and internal fixation of mandibular angle fracture.
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http://dx.doi.org/10.1002/ccr3.3451DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752351PMC
December 2020

Self-regeneration of an extensive bony defect following mandibular resection.

Clin Case Rep 2020 Oct 22;8(10):2025-2028. Epub 2020 Jun 22.

Department of Oral and Maxillofacial Surgery School of Dentistry Babol University of Medical Sciences Mazandaran Iran.

Spontaneous bone regeneration is a rapid and uncommon formation of new bone in a previous bone defect. Preservation of periosteum as the main source of osteogenesis, young age, and genetics are possible important factors related to this phenomenon.
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http://dx.doi.org/10.1002/ccr3.3057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7562896PMC
October 2020

Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation.

J Cell Biochem 2019 03 11;120(3):3367-3372. Epub 2018 Sep 11.

Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

Glutaric acidemia type I (GA-1) is an inborn error of metabolism due to deficiency of glutaryl-CoA dehydrogenase (GCDH), which catalyzes the conversion of glutaryl-CoA to crotonyl-CoA. GA-1 occurs in about 1 in 100 000 infants worldwide. The GCDH gene is on human chromosome 19p13.2, spans about 7 kb and comprises 11 exons and 10 introns. Tandem mass spectrometry (MS/MS) was used for clinical diagnosis in a proband from Iran with GA-1. Sanger sequencing was performed using primers specific for coding exons and exon-intron flanking regions of the GCDH gene in the proband. Cosegregation analysis and in silico assessment were performed to confirm the pathogenicity of the candidate variant. A novel homozygous missense variant c.1147C > A (p.Arg383Ser) in exon 11 of GCDH was identified. Examination of variant through in silico software tools determines its deleterious effect on protein in terms of function and stability. The variant cosegregates with the disease in family. In this study, the clinical and molecular aspects of GA-1 were investigated, which showed one novel mutation in the GCDH gene in an Iranian patient. The variant is categorized as pathogenic according to the the guideline of the American College of Medical Genetics and Genomics (ACMG) for variant interpretation. This mutation c.1147C > A (p.Arg383Ser) may also be prevalent among Iranian populations.
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http://dx.doi.org/10.1002/jcb.27607DOI Listing
March 2019

Diets of giants: the nutritional value of sauropod diet during the Mesozoic.

Palaeontology 2018 Sep 11;61(5):647-658. Epub 2018 Jul 11.

The School of Biosciences The University of Nottingham Sutton Bonington Campus, Sutton Bonington Leicestershire LE12 5RD UK.

A major uncertainty in estimating energy budgets and population densities of extinct animals is the carrying capacity of their ecosystems, constrained by net primary productivity (NPP) and its digestible energy content. The hypothesis that increases in NPP due to elevated atmospheric CO contributed to the unparalleled size of the sauropods has recently been rejected, based on modern studies on herbivorous insects that imply a general, negative correlation of diet quality and increasing CO . However, the nutritional value of plants grown under elevated CO levels might be very different for vertebrate megaherbivores than for insects. Here we show plant species-specific responses in metabolizable energy and nitrogen content, equivalent to a two-fold variation in daily food intake estimates for a typical sauropod, for dinosaur food plant analogues grown under CO concentrations spanning estimates for Mesozoic atmospheric concentrations. Our results potentially rebut the hypothesis that constraints on sauropod diet quality were driven by Mesozoic CO concentration.
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http://dx.doi.org/10.1111/pala.12385DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099296PMC
September 2018

Inferior Alveolar Nerve Medialization for Dental Implant Placement: Case Report with the Introduction of a New Technique.

Int J Oral Maxillofac Implants 2018 Jul/Aug;33(4):e113-e115

Inferior alveolar nerve repositioning is an option for treating the edentulous posterior mandible with insufficient bone height above the inferior alveolar canal. This report presents a case in which inferior alveolar nerve medialization was performed for placing dental implants. In the second postoperative week, mandibular fracture occurred after biting on a relatively solid piece of food, which was treated conservatively.
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http://dx.doi.org/10.11607/jomi.6938DOI Listing
October 2018

Polycyclic aromatic hydrocarbons (PAHs) in sediment and sea urchin (Echinometra mathaei) from the intertidal ecosystem of the northern Persian Gulf: Distribution, sources, and bioavailability.

Mar Pollut Bull 2017 Oct 11;123(1-2):373-380. Epub 2017 Sep 11.

Medical Geology Research Center, Department of Earth Sciences, Faculty of Sciences, Shiraz University, Shiraz, Iran.

The distribution, sources and bioavailability of polycyclic aromatic hydrocarbons (PAHs) in sediment and sea urchin (Echinometra mathaei) from the intertidal zone of the northern Persian Gulf were investigated. Total PAH concentrations varied from 12.8 to 81.25 and from 16.7 to 35 μgKg dry weight in sediment and Echinometra mathaei, respectively. The PAH concentrations can be classified as low. Source identification and apportionment using diagnostic ratios and principal component analysis demonstrate that the combustion of fossil fuels, road traffic, combustion of natural gas and biomass, and oil spill could be considered as the main sources of PAH contamination. The first PAH biota-sediment accumulation factors (BSAF) data from sediment to Echinometra mathaei in the intertidal zone of the northern Persian Gulf were calculated, indicating accumulation of both lower and higher molecular weight PAHs, with a preferential accumulation of lower molecular weight PAHs.
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http://dx.doi.org/10.1016/j.marpolbul.2017.09.008DOI Listing
October 2017

Distribution, source apportionment and health risk assessment of polycyclic aromatic hydrocarbons (PAHs) in intertidal sediment of Asaluyeh, Persian Gulf.

Environ Geochem Health 2018 Apr 30;40(2):721-735. Epub 2017 Aug 30.

Medical Geology Research Center, Faculty of Sciences, Department of Earth Sciences, Shiraz University, Shiraz, Iran.

Surface sediment samples were collected from intertidal zone of Asaluyeh, Persian Gulf, to investigate distribution, sources and health risk of sixteen polycyclic aromatic hydrocarbons (PAHs). Total PAH concentrations ranged from 1.8 to 81.2 μg kg dry weight, which can be categorized as low level of pollution. Qualitative and quantitative assessments showed that PAHs originated from both petrogenic and pyrogenic sources with slight pyrogenic dominance. Source apportionment using principal component analysis indicated that the main sources of PAHs were fossil fuel combustion (33.59%), traffic-related PAHs (32.77%), biomass and coal combustion (18.54%) and petrogenic PAHs (9.31%). According to the results from the sediment quality guidelines, mean effects range-median quotient (M-ERM-Q) and benzo[a]pyrene toxic equivalents (BaP), low negative ecological risks related to PAH compounds would occur in the intertidal zone of Asaluyeh. The total benzo[a]pyrene (BaP) toxic equivalent quotient (TEQ) for carcinogenic compounds ranged from 0.01 to 7 μg kg-BaP, indicating low carcinogenic risk. The human health risk assessment of PAH compounds via ingestion and dermal pathways suggests low and moderate potential risk to human health, respectively.
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http://dx.doi.org/10.1007/s10653-017-0019-2DOI Listing
April 2018

Combined Digital/Conventional Technique for Rehabilitation of a Patient With Epidermolysis Bullosa: A Case Letter.

J Oral Implantol 2017 Oct 4;43(5):387-391. Epub 2017 Aug 4.

3   Department of Prosthodontics, Guilan University of Medical Sciences, Rasht, Iran.

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http://dx.doi.org/10.1563/aaid-joi-D-17-00103DOI Listing
October 2017

Characterization of Enterococcus faecalis isolates by chicken embryo lethality assay and ERIC-PCR.

Avian Pathol 2018 Feb 31;47(1):23-32. Epub 2017 Aug 31.

a Lohmann Tierzucht GmbH , Cuxhaven , Germany.

Enterococcus faecalis is the major causative agent of amyloid arthropathy in chickens. Given the difficulty of estimating the risk from field strains, the embryo lethality assay (ELA) is proposed in this study as a model to predict the virulence of 68 avian E. faecalis strains. Additionally, Enterobacterial Repetitive Intergenic Consensus Polymerase Chain Reaction (ERIC-PCR) was used to characterize the genetic diversity of the E. faecalis strains. The ELA was performed 10 times with subsets of 7-8 E. faecalis strains each on a sample of 9987 eggs, including control groups. An estimated 3-24 colony-forming units were inoculated into the allantoic cavity of 10-day-old embryos. The embryonic mortality rate (EMR) was determined by means of candling the eggs over a period of seven days. The ELA was able to distinguish the virulence of the E. faecalis strains. Twenty-six strains were considered as avirulent strains with an EMR of below 40%. Five strains were highly virulent with an EMR above 80%. The remaining 37 strains were classified as strains of moderate virulence, causing an EMR between 40% and 80%. The highest EMR occurred three and four days post-inoculation (p.i.). From the fourth day p.i., almost no embryonic mortality was observed. Therefore, the ELA could be optimized by reducing experiment duration to four days p.i. ERIC-PCR did not cluster the strains according to its virulence, although ERIC banding patterns revealed a considerable genetic diversity. In conclusion, the ELA can be considered a reliable and useful tool to predict the virulence of avian E. faecalis strains.
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http://dx.doi.org/10.1080/03079457.2017.1359404DOI Listing
February 2018

Ecotoxicological and Health Risk Assessment of Polycyclic Aromatic Hydrocarbons (PAHs) in Short-Neck Clam (Paphia undulata) and Contaminated Sediments in Malacca Strait, Malaysia.

Arch Environ Contam Toxicol 2017 Oct 11;73(3):474-487. Epub 2017 May 11.

Department of Earth Sciences, Faculty of Sciences, Shiraz University, Shiraz, Iran.

The distribution, sources, and human health risk assessment of polycyclic aromatic hydrocarbons (PAHs) in surface sediment and the edible tissue of short-neck clam (Paphia undulata) from mudflat ecosystem in the west coast of Malaysia were investigated. The concentrations of ∑ PAHs varied from 347.05 to 6207.5 and 179.32 to 1657.5 ng g in sediment and short-neck clam samples, respectively. The calculations of mean PEL quotients (mean-PELQs) showed that the ecological risk of PAHs in the sediment samples was low to moderate-high level, whereas the total health risk through ingestion and dermal contact was considerably high. The PAHs biota sediment accumulation factors data for short-neck clam were obtained in this study, indicating a preferential accumulation of lower molecular weight PAHs. The source apportionment of PAHs in sediment using positive matrix factorization model indicated that the highest contribution to the PAHs was from diesel emissions (30.38%) followed by oil and oil derivate and incomplete coal combustion (23.06%), vehicular emissions (16.43%), wood combustion (15.93%), and natural gas combustion (14.2%). A preliminary evaluation of human health risk using chronic daily intake, hazard index, benzo[a]pyrene-equivalent (BaP) concentration, and the incremental lifetime cancer risk indicated that PAHs in short-neck clam would induce potential carcinogenic effects in the consumers.
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http://dx.doi.org/10.1007/s00244-017-0410-0DOI Listing
October 2017

Chicken embryo lethality assay for determining the lethal dose and virulence of Enterococcus faecalis.

Avian Pathol 2017 Oct 13;46(5):548-555. Epub 2017 Jun 13.

b Departamento de Produccion Animal, Escuela Técnica Superior de Ingeniería Agronómica, Alimentaria y de Biosistemas , Universidad Politécnica de Madrid , Madrid , Spain.

Enterococcus faecalis is the major pathogen found in field cases of amyloid arthropathy in chickens. Given the need for a better understanding of the virulence mechanisms of the causative strains, the embryo lethality assay (ELA) is proposed in the present study as a model to evaluate the virulence of E. faecalis strains, specifically the pathogenic avian strain K923/96, which was previously related with amyloid arthropathy. Hence, 0.2 ml of five doses of the cited strain (from 2.5 to 2500 colony-forming units (CFU) per ml) were inoculated into the allantoic cavity of 10-day-old embryos. The embryo mortality rate (EMR) was determined by daily candling of the eggs over a period of seven days and based on this information the median lethal dose (LD) was calculated. The ELA was repeated four times on a sample of 3443 eggs. The infectious dose showed a significant effect on the EMR. The EMR with the doses of 2.5, 5, 25, 250 and 2500 CFU/ml was 43%, 45%, 63%, 90% and 93%, respectively. The estimated dose at LD was 6.6 CFU/ml. As expected, the higher the infectious dose, the greater the EMR and the lower the embryo survival time. The highest EMR was recorded after three and four days post-inoculation in all doses. In conclusion, these results can be used as a basis for further researches on the E. faecalis virulence. In order to corroborate its model capacity to predict the virulence of this bacterium, more ELAs with different E. faecalis strains are required.
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http://dx.doi.org/10.1080/03079457.2017.1324942DOI Listing
October 2017

The Conservative Treatment of Pediatric Mandible Fracture With External Nasal Splint.

J Craniofac Surg 2016 Sep;27(6):e562-3

Craniomaxillofacial Research Center, and the Department of Oral and Maxillofacial Surgery, School of Dentistry, Tehran University of Medical Sciences, Tehran, Iran.

Introduction: The frequency of mandible fractures is relatively less in children compared with adults, but their treatment is significantly more challenging due to the concerns regarding mandible growth and the developing dentition. The authors have introduced a new way of closed reduction by using external nasal splints.

Methods: In 3 patients aged between 4 and 6-year old with parasymphyseal and body fractures of mandible, fractures were reduced under general anesthesia and thermoplastic nasal splints were directly formed and trimmed to fit the lingual surface of mandible.Splints were fixed to mandible with circummandibular wiring and were retained in place for 3 weeks.

Results: All fractures healed uneventfully and the occlusion in all patients was satisfactory. All patients gained good masticatory efficiency. There was no need to use the intermaxillary fixation in any of the patients.

Conclusion: Using thermoplastic external nasal splint for fracture stabilization in children is an easy, rapid, nonexpensive, and conservative way to treat mandible fractures in pediatric patients.
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http://dx.doi.org/10.1097/SCS.0000000000002868DOI Listing
September 2016

Mobility and chemical fate of arsenic and antimony in water and sediments of Sarouq River catchment, Takab geothermal field, northwest Iran.

J Environ Manage 2016 Apr 25;170:136-44. Epub 2016 Jan 25.

Department of Earth Sciences, Faculty of Sciences, Shiraz University, Shiraz, Iran.

Arsenic (As) and antimony (Sb) concentrations in water and sediments were determined along flow paths in the Sarouq River, Zarshuran and Agh Darreh streams. The results indicate high As and Sb concentrations in water and sediment samples. Raman spectroscopy shows hematite (α-Fe2O3), goethite [α-FeO(OH)] and lepidocrocite [γ-FeO(OH)] in sediment samples. Calculated saturation indices (SI) indicate oversaturation with respect to amorphous Fe(OH)3 for all samples, but undersaturation with respect to Al and Mn mineral and amorphous phases. Therefore, ferric oxides and hydroxides are assumed to be principal mineral phases for arsenic and antimony attenuation by adsorption/co-precipitation processes. The considerable difference between As and Sb concentration in sediment is due to strong adsorption of As(V) into the solid phase. Also, lower affinity of Sb(V) for mineral surfaces suggests a greater potential for aqueous transport. The adsorption of arsenic and antimony was examined using the Freundlich adsorption isotherm to determine their distribution model in water-sediment system and its compatibility with the existing theoretical model. The results showed that the adsorption behavior of both elements complies with the Freundlich adsorption isotherm.
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http://dx.doi.org/10.1016/j.jenvman.2016.01.018DOI Listing
April 2016

Estimation of deepwater temperature and hydrogeochemistry of springs in the Takab geothermal field, West Azerbaijan, Iran.

Environ Monit Assess 2016 Jan 5;188(1):75. Epub 2016 Jan 5.

Department of Earth Sciences, Faculty of Sciences, Shiraz University, Shiraz, Iran.

Chemical analyses of water samples from 19 hot and cold springs are used to characterize Takab geothermal field, west of Iran. The springs are divided into two main groups based on temperature, host rock, total dissolved solids (TDS), and major and minor elements. TDS, electrical conductivity (EC), Cl(-), and SO4 (2-) concentrations of hot springs are all higher than in cold springs. Higher TDS in hot springs probably reflect longer circulation and residence time. The high Si, B, and Sr contents in thermal waters are probably the result of extended water-rock interaction and reflect flow paths and residence time. Binary, ternary, and Giggenbach diagrams were used to understand the deeper mixing conditions and locations of springs in the model system. It is believed that the springs are heated either by mixing of deep geothermal fluid with cold groundwater or low conductive heat flow. Mixing ratios are evaluated using Cl, Na, and B concentrations and a mass balance approach. Calculated quartz and chalcedony geothermometer give lower reservoir temperatures than cation geothermometers. The silica-enthalpy mixing model predicts a subsurface reservoir temperature between 62 and 90 °C. The δ(18)O and δD (δ(2)H) are used to trace and determine the origin and movement of water. Both hot and cold waters plot close to the local meteoric line, indicating local meteoric origin.
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http://dx.doi.org/10.1007/s10661-015-5037-xDOI Listing
January 2016

Allelic variant in the anti-Müllerian hormone gene leads to autosomal and temperature-dependent sex reversal in a selected Nile tilapia line.

PLoS One 2014 26;9(8):e104795. Epub 2014 Aug 26.

Department of Animal Sciences - Livestock Biotechnology and Reproduction, Goettingen University, Goettingen, Germany.

Owing to the demand for sustainable sex-control protocols in aquaculture, research in tilapia sex determination is gaining momentum. The mutual influence of environmental and genetic factors hampers disentangling the complex sex determination mechanism in Nile tilapia (Oreochromis niloticus). Previous linkage analyses have demonstrated quantitative trait loci for the phenotypic sex on linkage groups 1, 3, and 23. Quantitative trait loci for temperature-dependent sex reversal similarly reside on linkage group 23. The anti-Müllerian hormone gene (amh), located in this genomic region, is important for sexual fate in higher vertebrates, and shows sexually dimorphic expression in Nile tilapia. Therefore this study aimed at detecting allelic variants and marker-sex associations in the amh gene. Sequencing identified six allelic variants. A significant effect on the phenotypic sex for SNP ss831884014 (p<0.0017) was found by stepwise logistic regression. The remaining variants were not significantly associated. Functional annotation of SNP ss831884014 revealed a non-synonymous amino acid substitution in the amh protein. Consequently, a fluorescence resonance energy transfer (FRET) based genotyping assay was developed and validated with a representative sample of fish. A logistic linear model confirmed a highly significant effect of the treatment and genotype on the phenotypic sex, but not for the interaction term (treatment: p<0.0001; genotype: p<0.0025). An additive genetic model proved a linear allele substitution effect of 12% in individuals from controls and groups treated at high temperature, respectively. Moreover, the effect of the genotype on the male proportion was significantly higher in groups treated at high temperature, giving 31% more males on average of the three genotypes. In addition, the groups treated at high temperature showed a positive dominance deviation (+11.4% males). In summary, marker-assisted selection for amh variant ss831884014 seems to be highly beneficial to increase the male proportion in Nile tilapia, especially when applying temperature-induced sex reversal.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0104795PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4144872PMC
May 2015

Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease.

EMBO J 2013 May 12;32(9):1225-37. Epub 2013 Mar 12.

Biomedical Sciences Division, Human Genetics Research Centre, St George's University of London, London, UK.

Adenosine diphosphate (ADP)-ribosylation is a post-translational protein modification implicated in the regulation of a range of cellular processes. A family of proteins that catalyse ADP-ribosylation reactions are the poly(ADP-ribose) (PAR) polymerases (PARPs). PARPs covalently attach an ADP-ribose nucleotide to target proteins and some PARP family members can subsequently add additional ADP-ribose units to generate a PAR chain. The hydrolysis of PAR chains is catalysed by PAR glycohydrolase (PARG). PARG is unable to cleave the mono(ADP-ribose) unit directly linked to the protein and although the enzymatic activity that catalyses this reaction has been detected in mammalian cell extracts, the protein(s) responsible remain unknown. Here, we report the homozygous mutation of the c6orf130 gene in patients with severe neurodegeneration, and identify C6orf130 as a PARP-interacting protein that removes mono(ADP-ribosyl)ation on glutamate amino acid residues in PARP-modified proteins. X-ray structures and biochemical analysis of C6orf130 suggest a mechanism of catalytic reversal involving a transient C6orf130 lysyl-(ADP-ribose) intermediate. Furthermore, depletion of C6orf130 protein in cells leads to proliferation and DNA repair defects. Collectively, our data suggest that C6orf130 enzymatic activity has a role in the turnover and recycling of protein ADP-ribosylation, and we have implicated the importance of this protein in supporting normal cellular function in humans.
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http://dx.doi.org/10.1038/emboj.2013.51DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3642678PMC
May 2013

A statistical model-based technique for accounting for prostate gland deformation in endorectal coil-based MR imaging.

Annu Int Conf IEEE Eng Med Biol Soc 2012 ;2012:5412-5

Philips Research North America, Briarcliff Manor, NY, USA.

In prostate brachytherapy procedures, combining high-resolution endorectal coil (ERC)-MRI with Computed Tomography (CT) images has shown to improve the diagnostic specificity for malignant tumors. Despite such advantage, there exists a major complication in fusion of the two imaging modalities due to the deformation of the prostate shape in ERC-MRI. Conventionally, nonlinear deformable registration techniques have been utilized to account for such deformation. In this work, we present a model-based technique for accounting for the deformation of the prostate gland in ERC-MR imaging, in which a unique deformation vector is estimated for every point within the prostate gland. Modes of deformation for every point in the prostate are statistically identified using a set of MR-based training set (with and without ERC-MRI). Deformation of the prostate from a deformed (ERC-MRI) to a non-deformed state in a different modality (CT) is then realized by first calculating partial deformation information for a limited number of points (such as surface points or anatomical landmarks) and then utilizing the calculated deformation from a subset of the points to determine the coefficient values for the modes of deformations provided by the statistical deformation model. Using a leave-one-out cross-validation, our results demonstrated a mean estimation error of 1mm for a MR-to-MR registration.
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http://dx.doi.org/10.1109/EMBC.2012.6347218DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6663485PMC
July 2013

Complication following reconstruction of orbital floor with temporalis-coronoid flap after subtotal maxillectomy.

J Craniofac Surg 2013 Jan;24(1):e33-6

Department of Oral and Maxillofacial Surgery, School of Dentistry, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

A 33-year-old lady was referred to the Department of Oral and Maxillofacial Surgery of Taleghani hospital in 2008. She complained of firm swelling on the left side of her face with toothache, lacrimation, and nasal stiffness. There was a large mass in the left maxillary sinus with extension to the orbital floor, nasal bone, ethmoid sinus, and infratemporal fossa. The incisional biopsy revealed a neurofibroma of the maxilla. She underwent hemimaxillectomy and simultaneous reconstruction with temporalis-coronoid flap for orbital floor reconstruction. After 2 months' follow-up with no complication, she complained of left globe upward movement during gum chewing. The orbital and visual examinations were otherwise normal. This unusual complication has continued for 4 years with no resolution, although the patient does not worry about it any more.
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http://dx.doi.org/10.1097/SCS.0b013e3182688db9DOI Listing
January 2013

The effect of chronic hyperthyroidism and restored euthyroid state by methimazole therapy in rat small mesenteric arteries.

Eur J Pharmacol 2013 Feb 27;701(1-3):20-6. Epub 2012 Dec 27.

Physiology Research Center, Isfahan University of Medical Sciences, Iran.

Not much has been reported about the effects of hyperthyroidism and its correction on resistance vessels, and just two inconsistent studies have investigated the impacts of restored euthyroidism on vascular reactivity. In this regard, we designed the current study to evaluate the vascular reactivity of the mesenteric arteries of hyperthyroid and restore euthyroid rats. Hyperthyroidism was induced by administration of triiodothyronine (T3; 300μg/kg, i.p., for 12 weeks in T3 group). Euthyroidism was restored by administration of T3 for 8 weeks and then T3+Methimazole (0.003% in drinking water) for 4 weeks (T3+MMI group). According to the McGregor method, vascular relaxation and contractility response were measured in response to acetylcholine or phenylephrine respectively. We found that maximal contractility response (Emax) to phenylephrine in the T3 group was significantly decreased (P<0.001), and Emax to acetylcholine was significantly increased compared with the saline group (P<0.05). When N(G)-nitro-L-arginine methyl ester (L-NAME, 3×10(-4)M) was used, Emax to acetylcholine in the T3 group was still higher than the saline group (P<0.05). However, decrease in maximal response of the T3 group was significantly greater than the saline group (P<0.01). We also showed that when euthyroidism is restored by methimazole therapy, enhanced acetylcholine-induced vasorelaxation and impaired contractility response to phenylephrine were normalized, as there was no significant difference in Emax of the T3+MMI group versus the saline group (P>0.05). In conclusion, synthesis of both nitric oxide (NO) and endothelium-derived hyperpolarizing factor (EDHF) in mesenteric arteries significantly increased as a consequence of hyperthyroidism, and this abnormal vascular reactivity is corrected by methimazole therapy.
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http://dx.doi.org/10.1016/j.ejphar.2012.12.021DOI Listing
February 2013

Comprehensive management of an orthognathic surgery patient with aggressive central giant cell granuloma of the mandible.

Gen Dent 2012 Sep-Oct;60(5):403-7

Oral and Maxillofacial Surgery, Tripler Army Medical Center, Honolulu, Hawaii, USA.

This article presents a case involving a 16-year-old boy who came to the Tripler Army Medical Center Oral and Maxillofacial Surgery with a central giant cell granuloma (CGCG) on the anterior mandible. Initial management consisted of surgical curettage and intralesional injection of corticosteroids. Upon completion of steroid therapy, there was clinical and radiographic evidence of remission; however, radiographic evidence of lesion recurrence was seen at a six-month follow-up visit. The CGCG was retreated with curettage and five months of systemic injections of calcitonin, both of which failed. The lesion was most likely an aggressive form of CGCG that progressed despite conservative therapy, with destruction of hard and soft tissues, root resorption, tooth displacement, and paraesthesia in the anterior mandible. The authors present a treatment algorithm with comprehensive management involving surgical resection, reconstruction, orthodontics, and orthognathic surgery with prosthodontic considerations.
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November 2013

Defective mitochondrial mRNA maturation is associated with spastic ataxia.

Am J Hum Genet 2010 Nov 21;87(5):655-60. Epub 2010 Oct 21.

Centre for Medical Genetics, St. George's University London, UK.

In human mitochondria, polyadenylation of mRNA, undertaken by the nuclear-encoded mitochondrial poly(A) RNA polymerase, is essential for maintaining mitochondrial gene expression. Our molecular investigation of an autosomal-recessive spastic ataxia with optic atrophy, present among the Old Order Amish, identified a mutation of MTPAP associated with the disease phenotype. When subjected to poly(A) tail-length assays, mitochondrial mRNAs from affected individuals were shown to have severely truncated poly(A) tails. Although defective mitochondrial DNA maintenance underlies a well-described group of clinical disorders, our findings reveal a defect of mitochondrial mRNA maturation associated with human disease and imply that this disease mechanism should be considered in other complex neurodegenerative disorders.
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http://dx.doi.org/10.1016/j.ajhg.2010.09.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2978972PMC
November 2010

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).

Hum Mutat 2010 Apr;31(4):E1251-60

Medical Genetics, Clinical Developmental Sciences, St George's University of London, London, UK.

Hereditary spastic paraplegia (HSP) describes a heterogeneous group of inherited neurodegenerative disorders in which the cardinal pathological feature is upper motor neurone degeneration leading to progressive spasticity and weakness of the lower limbs. Using samples from a large Omani family we recently mapped a gene for a novel autosomal recessive form of HSP (SPG35) in which the spastic paraplegia was associated with intellectual disability and seizures. Magnetic resonance imaging of the brain of SPG35 patients showed white matter abnormalities suggestive of a leukodystrophy. Here we report homozygous mutations in the fatty acid 2-hydroxylase gene (FA2H) in the original family used to define the SPG35 locus (p.Arg235Cys) as well as in a previously unreported Pakistani family with a similar phenotype (p.Arg53_Ile58del). Measurement of enzyme activity in vitro revealed significantly reduced enzymatic function of FA2H associated with these mutations. These results demonstrate that mutations in FA2H are associated with SPG35, and that abnormal hydroxylation of myelin galactocerebroside lipid components can lead to a severe progressive phenotype, with a clinical presentation of complicated HSP and radiological features of leukodystrophy. (c) 2010 Wiley-Liss, Inc.
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http://dx.doi.org/10.1002/humu.21205DOI Listing
April 2010

Associations between the clinical signs of chronic endometritis with ovarian cysts and body condition loss in German Holstein Friesian cows.

J Vet Sci 2009 Dec;10(4):337-41

Clinic of Farm Animals, Faculty of Veterinary Medicine, Aristotle University of Thessaloniki, St. Voutyra str. 11, 54627 Greece.

The objective of this retrospective field study was to associate the type and smell of discharge, the size of the uterus, the ovarian and treatment status, and the time to diagnosis of animals with chronic clinical endometritis (CCE) with the incidence of ovarian cysts and with a marked loss in body condition in German Holstein Friesian cows. Two hundred and sixty-four cows diagnosed with CCE from day 14 to day 42 postpartum participated in this study. In addition, 100 days milk production and the parity of the animals were included in the analysis. With the use of logistic regression, a purulent vaginal discharge (>/= 50% pus), the decision not to treat the animals for CCE and a high 100 days milk production proved to be significant factors for the incidence of ovarian cysts. Additionally, the type of discharge showed interactions with the parity and the smell of the discharge, as more animals with fetid and purulent discharge and more animals in the first lactation with a purulent discharge developed ovarian cysts. A high milk production and the parity showed associations with an excessive body condition score loss. Additionally, more animals with a diagnosis of an oversized uterus in comparison to cows with an early involution experienced a considerable reduction in their nutritional condition.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2807271PMC
http://dx.doi.org/10.4142/jvs.2009.10.4.337DOI Listing
December 2009

Is surgery recommended in adults with neglected congenital muscular torticollis? A prospective study.

BMC Musculoskelet Disord 2008 Nov 26;9:158. Epub 2008 Nov 26.

Department of Orthopedic Surgery, Ghaem hospital, Mashhad, Iran.

Background: Congenital muscular torticollis is the third most common congenital musculoskeletal anomaly after dislocation of the hip and clubfoot. When diagnosed early, it is obvious that it can be managed with good or excellent results. The aim of this prospective study was to determine the efficacy of surgery in neglected adult cases.

Methods: From January 2003 to June 2007, 18 adult skeletally matured patients were surgically treated for neglected congenital muscular torticollis and prospectively followed (at least one year). Bipolar release was performed in all patients. Radiography and the modified Lee's scoring system which included function and cosmesis, were used to measure the surgical results. Complications were also recorded.

Results: Four cases were lost during follow-up. Of the remaining 14 patients, 10 cases were males and 4 females. The age at operation ranged from 18 to 32 (average 21.9) years. The mean follow-up period was 2.5 years (range 1-5 years). Excellent results were noted in 7 patients, good in 5, and poor in 2 patients. Significant improvement (>10 degrees) of the cervico-thoracic scoliosis was noted only in 3 of 10 patients.

Conclusion: Patients with congenital muscular torticollis can benefit from surgical treatment even in adulthood. Surgical bipolar sectioning of the sternocleidomastoid muscle should be considered even in adults with irreversible facial and skeletal deformities. The surgery restores the range of neck motion and resolves the head tilt; therefore it can improve the quality of life. This procedure is an effective and relatively complication-free method.
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http://dx.doi.org/10.1186/1471-2474-9-158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2611989PMC
November 2008

The chicken as a natural model for extraintestinal infections caused by avian pathogenic Escherichia coli (APEC).

Microb Pathog 2008 Nov-Dec;45(5-6):361-9. Epub 2008 Sep 20.

Institute of Microbiology and Epizootics, Freie Universität Berlin, Philippstrasse 13, 10115 Berlin, Germany.

E. coli infections in avian species have become an economic threat to the poultry industry worldwide. Several factors have been associated with the virulence of E. coli in avian hosts, but no specific virulence gene has been identified as being entirely responsible for the pathogenicity of avian pathogenic E. coli (APEC). Needless to say, the chicken would serve as the best model organism for unravelling the pathogenic mechanisms of APEC, an extraintestinal pathogen. Five-week-old white leghorn SPF chickens were infected intra-tracheally with a well characterized APEC field strain IMT5155 (O2:K1:H5) using different doses corresponding to the respective models of infection established, that is, the lung colonization model allowing re-isolation of bacteria only from the lung but not from other internal organs, and the systemic infection model. These two models represent the crucial steps in the pathogenesis of APEC infections, including the colonization of the lung epithelium and the spread of bacteria throughout the bloodstream. The read-out system includes a clinical score, pathomorphological changes and bacterial load determination. The lung colonization model has been established and described for the first time in this study, in addition to a comprehensive account of a systemic infection model which enables the study of severe extraintestinal pathogenic E. coli (ExPEC) infections. These in vivo models enable the application of various molecular approaches to study host-pathogen interactions more closely. The most important application of such genetic manipulation techniques is the identification of genes required for extraintestinal virulence, as well as host genes involved in immunity in vivo. The knowledge obtained from these studies serves the dual purpose of shedding light on the nature of virulence itself, as well as providing a route for rational attenuation of the pathogen for vaccine construction, a measure by which extraintestinal infections, including those caused by APEC, could eventually be controlled and prevented in the field.
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http://dx.doi.org/10.1016/j.micpath.2008.08.005DOI Listing
February 2009

The impact of telomere erosion on memory CD8+ T cells in patients with X-linked lymphoproliferative syndrome.

Mech Ageing Dev 2005 Aug 25;126(8):855-65. Epub 2005 Apr 25.

Department of Immunology and Molecular Pathology, Royal Free and University College Medical School, London, UK.

Patients with X-linked lymphoproliferative syndrome (XLP) experience excessive T cell proliferation after primary Epstein-Barr virus (EBV) infection, due to mutations in the signalling lymphocyte activation molecule (SLAM) associated protein (SAP) molecule. We examined the impact of dysfunctional proliferative control on the extent of CD8+ T cell differentiation in XLP patients who recovered from primary EBV infection. Although these young patients have normal numbers of lytic and latent EBV-epitope-specific CD8+ T cells, they were extremely differentiated as defined by loss of CCR7 and CD27, low telomerase activity and very short telomeres. This was not a direct effect arising from the loss of SAP, but was due to excessive T cell stimulation due to this defect. Thus, transduction of XLP CD8+ T cells with the catalytic component of telomerase (hTERT), but not SAP, prevented telomere loss and considerably extended proliferative lifespan in vitro. These results indicate that excessive proliferation in CD8+ T cells in XLP patients may lead to end-stage differentiation and loss of functional EBV-specific CD8+ T cells through replicative senescence. This may contribute to the defective immunity found in XLP patients who survive acute EBV infection who develop EBV-related B cell lymphomas before the fourth decade of life.
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http://dx.doi.org/10.1016/j.mad.2005.03.006DOI Listing
August 2005

The proteomic approach to urological biomarkers.

BJU Int 2004 Dec;94(9):1215-6

Translational Cancer Genetics Team, The Institute of Cancer Research, Surrey, UK.

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http://dx.doi.org/10.1111/j.1464-410X.2004.05323.xDOI Listing
December 2004

SAP mediates specific cytotoxic T-cell functions in X-linked lymphoproliferative disease.

Blood 2004 May 15;103(10):3821-7. Epub 2004 Jan 15.

Molecular Immunology Unit, Institute of Child Health, University College London, London, United Kingdom.

Cytotoxic T cells (CTLs) and natural killer cells play a major role in the immune response to Epstein-Barr virus (EBV) infection. In X-linked lymphoproliferative (XLP) disease, a severe immunodeficiency, immunodysregulatory phenomena are observed following EBV infection, suggesting that defects exist in these effector populations. The gene defective in XLP is SAP (signaling lymphocytic activation molecule [SLAM]-associated protein), an adaptor protein that mediates signals through SLAM and other immunoglobulin superfamily receptors including 2B4. We generated EBV-specific T-cell lines from controls and XLP patients and examined CTL function in response to different stimuli. We show that XLP patients can generate EBV-T-cell lines that are phenotypically similar to those from controls. XLP patient EBV-T-cell lines showed a significant decrease in interferon-gamma (IFN-gamma) production in response to 2B4 and autologous EBV-transformed lymphoblastoid cell line (LCL) stimulation but not in response to SLAM. Furthermore, XLP EBV-T-cell lines demonstrated markedly decreased cytotoxic activity against autologous LCLs. By retroviral gene transfer of the SAP gene into XLP EBV-T-cell lines, we show reconstitution of IFN-gamma production and of cytotoxic activity confirming SAP-dependent defects. These studies demonstrate that in XLP the lack of SAP affects specific signaling pathways resulting in severe disruption of CTL function.
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http://dx.doi.org/10.1182/blood-2003-09-3359DOI Listing
May 2004

X-linked lymphoproliferative disease: clinical, diagnostic and molecular perspective.

Br J Haematol 2002 Dec;119(3):585-95

Molecular Immunology Unit, Institute of Child Health, University College London, United Kingdom.

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http://dx.doi.org/10.1046/j.1365-2141.2002.03851.xDOI Listing
December 2002