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1.
J Oral Implantol ; 2023 Apr 06.
Article in English | MEDLINE | ID: mdl-37025055

ABSTRACT

Introduction This study aimed to assess the effect of slice thickness of 3D printer in fabrication of surgical guide (SG) on the accuracy of dental implant placement. Materials and Methods After preparation of two dry human mandibles, Cone-beam computed tomography (CBCT) scans were obtained, and the location and direction of implants in the edentulous ridge of the mandible were identified using Romexis software. Data in STL format were transferred to a 3D printer and two SGs with 50 µm and 100 µm thicknesses were fabricated for each mandible. Drilling was performed using two SGs. The pre- and post-intervention CBCT scans were superimposed to measure the magnitude of differences. The two groups were compared using the Mann-Whitney U test. Results No significant difference was noted in SGs with 50 and 100 µm thicknesses in the coronal and apical regions of the implants or the depth of drilling. However, the difference in angular deviation was statistically significant. Conclusion Considering the higher accuracy of SGs with 50 µm thickness (despite the presence of a significant difference in AD between the SGs with different thicknesses), it is recommended to use a SG with 50 µm thickness in cases where anatomical limitations exist.

2.
BMC Musculoskelet Disord ; 23(1): 593, 2022 Jun 20.
Article in English | MEDLINE | ID: mdl-35725431

ABSTRACT

BACKGROUND: It was aimed to investigate the musculoskeletal status in individuals diagnosed with skeletal discrepancies. METHODS: This case-control study was performed on 35 patients with developmental skeletal discrepancies listed for orthognathic surgery as a case group and 33 patients who were nominated for wisdom tooth removal as a control group. All participants were aged 18-40 years and the research was carried out in the period between May 2018 and May 2019. Dual X-ray absorptiometry (DEXA) was used to assess bone mass density at three bone sites: total hip, femoral neck, and the spinal lumbar vertebrae (L1-L4). The appendicular muscle mass index (ASMI) was measured based on the four limbs from the DEXA scan. RESULTS: Our data showed that 45.7% (16) of the case group were osteopenic or osteoporotic while in the control group only 21.2% (7) were osteopenic in at least one region (total hip, femoral neck, or lumbar) (p-value = 0.03). Regarding muscle mass, there was significantly lower SMI in subjects with skeletal discrepancies (case group) compared with the control group (median (IQR) 5.9 (2.5) vs. 6.8 (2.9) (kg/m2), respectively, p = 0.04). CONCLUSIONS: There is an essential need for more studies to understand the exact interrelationship between musculoskeletal status and skeletal jaw discrepancies.


Subject(s)
Bone Density , Femur Neck , Absorptiometry, Photon , Adult , Bone Density/physiology , Case-Control Studies , Femur Neck/diagnostic imaging , Humans , Lumbar Vertebrae/diagnostic imaging , Muscles
3.
Trop Anim Health Prod ; 54(1): 54, 2022 Jan 14.
Article in English | MEDLINE | ID: mdl-35028725

ABSTRACT

The aim of this study was to evaluate the effects of dietary vitamin C supplementation on blood parameters of pre-parturient (PP) dairy cows and growth performance and immune system of their newborn calves. Forty PP cows (at approximately 21 days before calving and an average weight 791 ± 50 kg) were allocated into two experimental treatments: (1) basal diet without vitamin C supplementation (CO) and (2) basal diet with 20 g of vitamin C supplementation from 21 days before calving to parturition (VC). After parturition, the experiment continued by grouping the calves into four dietary treatments with 8 calves in each treatment. The experimental treatments were (1) control calves with no vitamin C supplementation and from cows that received no vitamin C supplement (CON), (2) calves supplemented with 600 mg of vitamin C per day and from cows that received no vitamin C supplement (CVC), (3) calves supplemented with no vitamin C and from cows that received 20 g of vitamin C per day (MVC), and (4) calves supplemented with 600 mg of vitamin C per day and from cows that received 20 g of vitamin C per day (CMVC). Serum concentrations of glucose, HDL and LDL, cholesterol, triglycerides, total protein, and albumin of cows were not affected by vitamin C supplementation during pre-parturient period. However, cows that received VC diet had lower (P < 0.05) malondialdehyde (MDA) and aspartate aminotransferase (AST) concentrations, higher total antioxidant capacity (TAC), and vitamin C concentration in their blood compared to CO cows. Vitamin C supplementation had no effect on plasma iron, copper, and zinc concentrations of PP cows. Similarly, vitamin C supplementation had no effect on total feed intake and feed conversion ratio (FCR) of suckling calves. However, calves in the CMVC group had higher (P < 0.05) overall daily weight gain compared to the other groups. Calves in the CVC and CMVC groups had lower (P < 0.05) blood MDA concentration on days 7 and 21. The highest (P < 0.05) blood TAC level was recorded in CMVC calves. Control group calves had lower (P < 0.05) blood superoxide dismutase activity compared to the other calves. Blood levels of alanine aminotransferase on days 7 and 21 and aspartate aminotransferase on day 7 were higher (P < 0.05) for calves in the CON and MVC groups. Based on the results, vitamin C supplementation had positive health effects on the oxidative parameters of PP dairy cows and also improved the performance and health status of the calves.


Subject(s)
Copper , Zinc , Animal Feed/analysis , Animals , Ascorbic Acid , Cattle , Diet/veterinary , Dietary Supplements , Female , Iron
4.
J Cell Biochem ; 120(3): 3367-3372, 2019 03.
Article in English | MEDLINE | ID: mdl-30203563

ABSTRACT

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.


Subject(s)
Amino Acid Metabolism, Inborn Errors/enzymology , Amino Acid Metabolism, Inborn Errors/genetics , Brain Diseases, Metabolic/enzymology , Brain Diseases, Metabolic/genetics , Glutaryl-CoA Dehydrogenase/deficiency , Glutaryl-CoA Dehydrogenase/genetics , Homozygote , Mutation, Missense , Amino Acid Metabolism, Inborn Errors/pathology , Brain Diseases, Metabolic/pathology , Female , Humans , Infant , Male , Pedigree
5.
Environ Geochem Health ; 40(2): 721-735, 2018 Apr.
Article in English | MEDLINE | ID: mdl-28856501

ABSTRACT

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-1 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 (BaPeq), 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 (TEQcarc) for carcinogenic compounds ranged from 0.01 to 7 µg kg-1-BaPeq, 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.


Subject(s)
Geologic Sediments/chemistry , Polycyclic Aromatic Hydrocarbons/analysis , Population Health , Water Pollutants, Chemical/analysis , Biomass , Humans , Indian Ocean , Polycyclic Aromatic Hydrocarbons/toxicity , Principal Component Analysis , Risk Assessment
6.
EMBO J ; 32(9): 1225-37, 2013 May 02.
Article in English | MEDLINE | ID: mdl-23481255

ABSTRACT

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.


Subject(s)
Glycoside Hydrolases/physiology , Neurodegenerative Diseases/enzymology , Poly Adenosine Diphosphate Ribose/physiology , Thiolester Hydrolases/physiology , Amino Acid Sequence , Base Sequence , Cells, Cultured , Child , Child, Preschool , Family , Female , Glycoside Hydrolases/genetics , HEK293 Cells , HeLa Cells , Humans , Male , Models, Molecular , Molecular Sequence Data , Neurodegenerative Diseases/genetics , Pedigree , Poly Adenosine Diphosphate Ribose/genetics , Protein Processing, Post-Translational/genetics , Sequence Homology, Amino Acid , Thiolester Hydrolases/genetics
7.
Arch Environ Contam Toxicol ; 73(3): 474-487, 2017 Oct.
Article in English | MEDLINE | ID: mdl-28497299

ABSTRACT

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 ∑16 PAHs varied from 347.05 to 6207.5 and 179.32 to 1657.5 ng g-1 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 (BaPeq) concentration, and the incremental lifetime cancer risk indicated that PAHs in short-neck clam would induce potential carcinogenic effects in the consumers.


Subject(s)
Bivalvia/chemistry , Polycyclic Aromatic Hydrocarbons/analysis , Water Pollutants, Chemical/analysis , Animals , Benzo(a)pyrene/analysis , Ecotoxicology , Humans , Malaysia , Petroleum Pollution , Polycyclic Aromatic Hydrocarbons/toxicity , Risk Assessment , Water Pollutants, Chemical/toxicity
8.
J Craniofac Surg ; 27(6): e562-3, 2016 Sep.
Article in English | MEDLINE | ID: mdl-27428905

ABSTRACT

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.


Subject(s)
Conservative Treatment/methods , Mandibular Fractures/therapy , Polymethacrylic Acids , Splints , Child , Child, Preschool , Dental Occlusion , Equipment Design , Humans , Mandibular Fractures/diagnosis , Nose , Radiography, Panoramic
9.
J Environ Manage ; 170: 136-44, 2016 Apr 01.
Article in English | MEDLINE | ID: mdl-26820974

ABSTRACT

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.


Subject(s)
Antimony/chemistry , Arsenic/chemistry , Geologic Sediments/chemistry , Water Pollutants, Chemical/chemistry , Adsorption , Ferric Compounds/chemistry , Humans , Iran , Iron Compounds , Minerals , Rivers/chemistry , Water Pollution/prevention & control
10.
Environ Monit Assess ; 188(1): 75, 2016 Jan.
Article in English | MEDLINE | ID: mdl-26733417

ABSTRACT

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.


Subject(s)
Environmental Monitoring/methods , Groundwater/chemistry , Hot Springs/chemistry , Temperature , Hot Temperature , Hydrology , Iran , Models, Theoretical
11.
Am J Hum Genet ; 87(5): 655-60, 2010 Nov 12.
Article in English | MEDLINE | ID: mdl-20970105

ABSTRACT

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.


Subject(s)
Cerebellar Ataxia/genetics , DNA-Directed RNA Polymerases/genetics , Genes, Mitochondrial , Mitochondrial Proteins/genetics , Paraparesis, Spastic/genetics , RNA, Messenger , Adolescent , Adult , Amino Acid Sequence , Base Sequence , Child , Child, Preschool , Female , Humans , Male , Molecular Sequence Data , Mutation , Optic Atrophy/genetics , Pedigree , RNA, Mitochondrial
12.
J Craniofac Surg ; 24(1): e33-6, 2013 Jan.
Article in English | MEDLINE | ID: mdl-23348329

ABSTRACT

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.


Subject(s)
Maxillary Neoplasms/surgery , Neurofibroma/surgery , Orbit/physiopathology , Orbit/surgery , Plastic Surgery Procedures/methods , Postoperative Complications/physiopathology , Surgical Flaps , Adult , Biopsy , Female , Humans , Maxillary Neoplasms/pathology , Neurofibroma/diagnosis , Orbit/pathology
13.
Gen Dent ; 60(5): 403-7, 2012.
Article in English | MEDLINE | ID: mdl-23032227

ABSTRACT

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.


Subject(s)
Adrenal Cortex Hormones/therapeutic use , Bone Density Conservation Agents/therapeutic use , Calcitonin/therapeutic use , Granuloma, Giant Cell/surgery , Mandible/surgery , Mandibular Diseases/surgery , Mandibular Osteotomy/methods , Adolescent , Combined Modality Therapy , Curettage , Granuloma, Giant Cell/drug therapy , Granuloma, Giant Cell/pathology , Humans , Male , Mandible/diagnostic imaging , Mandible/pathology , Mandibular Diseases/drug therapy , Mandibular Diseases/pathology , Radiography , Plastic Surgery Procedures , Recurrence
14.
Clin Case Rep ; 10(8): e6165, 2022 Aug.
Article in English | MEDLINE | ID: mdl-35937017

ABSTRACT

It is important to increase the awareness and knowledge of head and neck surgeons about the recent surge of craniofacial mucormycosis in COVID-19 patients because early diagnosis and appropriate treatment are essential to improve the outcomes. Here, we describe clinical features, treatment protocols, and outcomes of treatment in eight patients with COVID-19-associated mucormycosis in the maxilla. Consistent with the findings of previous studies, our experience in the management of these eight patients shows that early administration of amphotericin B and prompt aggressive surgery are essential for optimal control of the disease.

15.
Mar Pollut Bull ; 181: 113913, 2022 Aug.
Article in English | MEDLINE | ID: mdl-35810648

ABSTRACT

Pollution characteristics and associated ecological risks of PAHs in sediments from Brunei Bay, Brunei were investigated. The concentrations of ∑16 PAHs ranged from 826.7 to 2955.3 µg kg-1, indicating moderate to high level of pollution. Source apportionment of PAHs by molecular isomeric ratios and positive matrix factorization model indicated impact of potential anthropogenic PAH sources including combustion of biomass and fossil fuels. The data indicated relatively no significant ecotoxicological risk for most of PAH compounds. To estimate the individual c-PAH toxicity, the toxic equivalent quantity (c-TEQ) was calculated. Results of the TEQ analysis showed that BaP followed by DBA and BaA are the most carcinogenic of PAHs examined in the study area. The evaluation of human health risk of PAHs revealed that the cancer risk of PAHs for adults and children was higher than the USEPA threshold (<1E-06) and lower than 1E-3, implying low to moderate risk.


Subject(s)
Polycyclic Aromatic Hydrocarbons , Water Pollutants, Chemical , Bays , Brunei , Child , China , Ecosystem , Environmental Monitoring , Geologic Sediments , Humans , Polycyclic Aromatic Hydrocarbons/analysis , Risk Assessment , Water Pollutants, Chemical/analysis
16.
Clin Case Rep ; 9(8): e04608, 2021 Aug.
Article in English | MEDLINE | ID: mdl-34429994

ABSTRACT

Myositis ossificans (MO) is a rare disease in which ossification develops in the muscle or soft tissue. MO traumatica is recognized by ossification of the soft tissues after acute or repetitive trauma, burns, or surgical procedures. It usually involves the extremity muscles. In the head and neck region, the masseter is most commonly involved in MO traumatica. Surgical resection of the ossified tissue has been the most commonly used treatment for this disorder, with a high postoperative recurrence rate. We report a case of non-traumatic MO of the Masseter muscle with different size round calcifications and to review the literature reported data about MO traumatica involving the masseter muscle.

17.
Clin Case Rep ; 9(11): e05037, 2021 Nov.
Article in English | MEDLINE | ID: mdl-34786193

ABSTRACT

We describe a novel modified intranasal approach to minimize the complications of the impacted mesiodens surgical extraction. Also, it can be performed under local anesthesia with proper preoperative workup.

18.
J Environ Health Sci Eng ; 19(1): 107-120, 2021 Jun.
Article in English | MEDLINE | ID: mdl-34150222

ABSTRACT

Kermanshah Province as an agricultural hub exports food crops to neighboring countries. In this study, contamination status, bioavailability, spatial distribution, and ecological and human health risk of arsenic and heavy metals (HMs) in soil were investigate. For this purpose, 121 agricultural soil samples were collected and analyzed using ICP-MS. The data were studied by calculating some geochemical indices, and using geographical information system and statistical analysis. Results showed that Cd has the highest bioavailability, following by Cu and As. Also, Cu was severely associated with organic matter. Enrichment factor (EF) followed the order of As > Cu > Pb > Se > Cd > Zn > Ni > Cr, and the soil pollution index (SPI) ranged from 0.82 to 2.65. Low potential ecological risk was measured for most of the samples. However, Kermanshah County and Eastern parts of the Province showed the highest HMs enrichment and ecological risk. Moreover, high carcinogenic risk of Cr and Ni threatens the children. Cr showed also high non-carcinogenic hazard index (HI) for children. Principal component analysis (PCA) indicated the anthropogenic origins for As, Cd, Cu, Pb, Se and Zn, while Cr and Ni originated mainly from a geogenic source. Furthermore, Kruskal-Wallis H test revealed that As, Cd, Cr, Cu, Ni, Pb, Se and Zn concentrations were significantly different (p < 0.05) between 16 Counties of the Kermanshah Province. Overall, the management of urban and industrial contamination sources is required to minimize the concentration of bioavailable portion of HMs and preventing residents of the area from being exposed to contaminants.

19.
Hum Mutat ; 31(4): E1251-60, 2010 Apr.
Article in English | MEDLINE | ID: mdl-20104589

ABSTRACT

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.


Subject(s)
Mixed Function Oxygenases/genetics , Mutation/genetics , Spastic Paraplegia, Hereditary/enzymology , Spastic Paraplegia, Hereditary/genetics , Adolescent , Adult , Animals , Brain/pathology , CHO Cells , Child , Child, Preschool , Chromatography, Thin Layer , Consanguinity , Cricetinae , Cricetulus , Female , Humans , Infant , Magnetic Resonance Imaging , Male , Pedigree , Pregnancy , Transfection
20.
Clin Case Rep ; 8(10): 2025-2028, 2020 Oct.
Article in English | MEDLINE | ID: mdl-33088544

ABSTRACT

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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