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1.
Sci Rep ; 14(1): 2368, 2024 Feb 06.
Article in English | MEDLINE | ID: mdl-38321108

ABSTRACT

Nature-based solutions inherently require a multifaceted perspective that encompasses diverse fields. The aim of this project is to develop more effective nature-based solutions, climate action and environmental awareness by breaking down boundaries between disciplines and fostering a co-creative process. Concepts of ecology and urban forestry were combined with the research on political ecology, environmental humanities, land art, regenerative art, performing art, participatory art, and more-than-human art. This process resulted in the creation of Aula Verde Aniene. It is located in an urban park in Rome and consists of a stand of trees arranged in circles with a specific design to give the perception of being in an outdoor vegetated room. The project activities involved community participation through art performances and citizen science initiatives. Regulating and cultural ecosystem services of Aula Verde were assessed using i-Tree Eco software and citizens' surveys. Beyond numerical descriptions of ecosystem services, the manuscript introduces shinrin-yoku as a practice to raise awareness of nature. The distinctive approach here described contributed to convey a sense of belonging to the ecosystem to citizens. The project framework and study findings have been developed to formulate policy recommendations and disseminate a format that can be adapted to diverse locations.

2.
Article in English | MEDLINE | ID: mdl-38624818

ABSTRACT

Automated valuation models (AVMs) are widely used by financial institutions to estimate the property value for a residential mortgage. The distribution of pricing errors obtained from AVMs generally show fat tails (Pender 2016; Demiroglu and James Management Science, 64(4), 1747-1760 2018). The extreme events on the tails are usually known as "black swans" (Taleb 2010) in finance and their existence complicates financial risk management, assessment, and regulation. We show via theory, Monte Carlo experiments, and an empirical example that a direct relation exists between non-normality of the pricing errors and goodness-of-fit of the house pricing models. Specifically, we provide an empirical example using US housing prices where we demonstrate an almost perfect linear relation between the estimated degrees-of-freedom for a Student's t distribution and the goodness-of-fit of sophisticated evaluation models with spatial and spatialtemporal dependence.

3.
Clin Case Rep ; 9(4): 1870-1875, 2021 Apr.
Article in English | MEDLINE | ID: mdl-33936606

ABSTRACT

A case of regenerative endodontics: (a) before treatment; (b) post-treatment Xray; (c) follow-up at 6 months; (d) follow-up at 12 months.

4.
PLoS One ; 15(9): e0239572, 2020.
Article in English | MEDLINE | ID: mdl-32960932

ABSTRACT

Social distancing, a non-pharmaceutical tactic aimed at reducing the spread of COVID-19, can arise because individuals voluntarily distance from others to avoid contracting the disease. Alternatively, it can arise because of jurisdictional restrictions imposed by local authorities. We run reduced form models of social distancing as a function of county-level exogenous demographic variables and jurisdictional fixed effects for 49 states to assess the relative contributions of demographic and jurisdictional effects in explaining social distancing behavior. To allow for possible spatial aspects of a contagious disease, we also model the spillovers associated with demographic variables in surrounding counties as well as allow for disturbances that depend upon those in surrounding counties. We run our models weekly and examine the evolution of the estimated coefficients over time since the onset of the COVID-19 pandemic in the United States. These estimated coefficients express the revealed preferences of individuals who were able to and chose to stay at home to avoid the disease. Stay-at-home behavior measured using cell phone tracking data exhibits considerable cross-sectional variation, increasing over nine-fold from the end of January 2020 to the end of March 2020, and then decreasing by about 50% through mid-June 2020. Our estimation results show that demographic exogenous variables explain substantially more of this variation than predictions from jurisdictional fixed effects. Moreover, the explanations from demographic exogenous variables and jurisdictional fixed effects show an evolving correlation over the sample period, initially partially offsetting, and eventually reinforcing each other. Furthermore, the predicted social distance from demographic exogenous variables shows substantial spatial autoregressive dependence, indicating clustering in social distancing behavior. The increased variance of stay-at-home behavior coupled with the high level of spatial dependence can result in relatively intense hotspots and coldspots of social distance, which has implications for disease spread and mitigation.


Subject(s)
Betacoronavirus , Coronavirus Infections/epidemiology , Models, Theoretical , Pneumonia, Viral/epidemiology , Psychological Distance , COVID-19 , Cluster Analysis , Coronavirus Infections/prevention & control , Cross-Sectional Studies , Demography , Humans , Local Government , Pandemics/prevention & control , Pneumonia, Viral/prevention & control , SARS-CoV-2 , Social Isolation , United States
5.
J Biol Regul Homeost Agents ; 33(3 Suppl. 1): 1-9. DENTAL SUPPLEMENT, 2019.
Article in English | MEDLINE | ID: mdl-31538444

ABSTRACT

Blood contamination of the canal during preparation and obturation can be a problem in Endodontics; this may result in apical microleakage. The purpose of this investigation was to observe and evaluate the hemostatic properties of biofilm decontaminant material (sulfonic/sulphuric acid solution, HybenX, EPIEN Medical) used in teeth with necrotic pulp and unstoppable bleeding after root canal shaping. A prospective study was designed with 2 randomized parallel groups: decontaminant material (experimental group) and sodium hypochlorite 5% (control group). The analysis of the root canal bleeding was evaluated by the clinician before and after the application of the sulfonic/sulphuric solution or sodium hypochlorite 5%, by measuring the millimeters of blood on a sterile paper point introduced in the root canal. Sixty patients with necrotic pulp and unstoppable bleeding were enrolled in this study and randomly divided into 2 groups: decontaminant material in 30 patients (experimental group) or sodium hypochlorite 5% in 30 patients (control group). T-test showed that the percentage change in millimeters of blood detected in the root canal was statistically greater for experimental group [mean difference: 0.74 (IC: 0.66-0.82); p less than 0.0001]. The hemostatic properties were better in the experimental group than in the sodium hypochlorite 5% group (control). Further research may be needed to confirm the results of this study..


Subject(s)
Dental Pulp Cavity , Hemorrhage/prevention & control , Hemostatics/therapeutic use , Root Canal Irrigants/therapeutic use , Humans , Prospective Studies , Root Canal Therapy , Sodium Hypochlorite/therapeutic use
6.
J Stomatol Oral Maxillofac Surg ; 120(5): 432-442, 2019 Nov.
Article in English | MEDLINE | ID: mdl-30641282

ABSTRACT

BACKGROUND: In craniofacial reconstruction, the gold standard procedure for bone regeneration is the autologous bone graft (BG). However, this procedure requiring bone harvesting is a source of morbidity. Bone substitutes, such as biphasic calcium phosphate (BCP), represent an interesting alternative but are not sufficient for bone healing in hypoplastic conditions. In such conditions, osteoprogenitors are essential to provide osteoinduction. Previous studies have shown that BCP associated with total bone marrow (TBM) provides same bone reconstruction as bone graft in a rat model of calvaria defect. Furthermore, adipose tissue stromal vascular fraction (SVF) seems to be another promising source of osteoprogenitor cells that can be used intra-operatively. This study aimed to combine, intra-operative BCP-based bone tissue engineering strategies with TBM or SVF from human sources. METHODS: 5 mm critical-size calvaria defects were performed in 18 nude rat. The defects were filled with intra-operative bone tissue engineering procedures: human BG, human TBM + BCP, human SVF + BCP and, rat TBM + BCP. Animals were sacrificed 8 weeks after implantation and calvaria were processed for histological and radiological examinations. Implanted cells were labelled with a fluorochrome. RESULTS: Micro-CT analysis revealed partial repair of bone defect. Only hBG significantly succeeded in healing the defect (43.1%). However, low rate of newly formed bone tissue was observed in all tissue engineering conditions (hTBM, hSVF, ratTBM). DISCUSSION: The lack of bone formation observed in this study could possibly be attributed to the model. CONCLUSION: This study combined with a literature analysis show the stringency of the nude rat calvaria model in term of bone regeneration.


Subject(s)
Bone Substitutes , Tissue Engineering , Adipose Tissue , Animals , Bone Regeneration , Humans , Osteogenesis , Rats
7.
J Tissue Eng Regen Med ; 12(5): 1238-1246, 2018 05.
Article in English | MEDLINE | ID: mdl-29489057

ABSTRACT

Hydrogels are attractive biomaterials for replicating cellular microenvironments, but attention needs to be given to hydrogels diffusion properties. A large body of literature shows the promise of hydrogels as 3D culture models, cell expansion systems, cell delivery vehicles, and tissue constructs. Surprisingly, literature seems to have overlooked the important effects of nutrient diffusion on the viability of hydrogel-encapsulated cells. In this paper, we present the methods and results of an investigation into glucose and oxygen diffusion into a silated-hydroxypropylmethylcellulose (Si-HPMC) hydrogel. Using both an implantable glucose sensor and implantable oxygen sensor, we continuously monitored core glucose concentration and oxygen concentration at the centre of hydrogels. We demonstrated that we could tune molecular transport in Si-HPMC hydrogel by changing the polymer concentration. Specifically, the oxygen diffusion coefficient was found to significantly decrease from 3.4 × 10-10 to 2.4 × 10-10  m2  s-1 as the polymer concentration increased from 1% to 4% (w/v). Moreover, it was revealed during in vitro culture of cellularized hydrogels that oxygen depletion occurred before glucose depletion, suggesting oxygen diffusion is the major limiting factor for cell survival. Insight was also gained into the mechanism of action by which oxygen and glucose diffuse. Indeed, a direct correlation was found between the average polymer crosslinking node size and glucose parameters, and this correlation was not observed for oxygen. Overall, these experiments provide useful insights for the analysis of nutrient transport and gas exchange in hydrogels and for the development of future cellular microenvironments based on Si-HPMC or similar polysaccharide hydrogels.


Subject(s)
Glucose/analysis , Hydrogels/chemistry , Oxygen/analysis , Regenerative Medicine , Stem Cells/cytology , Tissue Scaffolds/chemistry , Cell Count , Diffusion , Humans , Hypromellose Derivatives/chemistry
8.
J Stomatol Oral Maxillofac Surg ; 119(1): 8-15, 2018 Feb.
Article in English | MEDLINE | ID: mdl-29033269

ABSTRACT

INTRODUCTION: The treatment of fractures in the mandibular condylar process remains controversial. The aim of this study was to assess the outcomes of isolated functional treatment versus open reduction and internal fixation (ORIF) of mandibular condylar fracture with articular impact based on clinical and radiological criteria. MATERIALS AND METHODS: Eighty-three patients with a mandibular condylar fracture with articular impact were included in this retrospective study. They were divided according to Loukota, Spiessl and Schroll, Mercier and Rasse, Neff, and Hlawitschka classifications. Two groups were created: operated patients (operated) and non-operated patients (non-operated). Occlusal and functional features were evaluated using clinical measurements at 1, 3, 6, and 12 months after the treatment as well as radiological measurements performed preoperatively, 6 weeks later, and at the end of the follow-up. RESULTS: A male predominance was observed in the data (69.9%, P<0.0001). Isolated functional treatment was applied in 55 patients (66.26%). Twenty-eight patients (33.7%) were operated upon using a pre-auricular or modified Risdon's approach. Maximal mouth opening (MMO) was lesser in "operated" group compared to "non-operated" group until 6 months (25.75mm vs 31.96mm, 34.76mm vs 37.95mm, 38.06mm vs 41.87mm respectively 1, 3 and, 6 months, P<0.05). Results were satisfactory 1 year after treatment (41.29mm vs 45.22mm, P>0.05). There was no difference concerning temporo-mandibular joint dysfunctions between operated and non-operated patients. For unilateral fractures, the loss of height of the ramus was significantly higher in operated patients initially compared to "non-operated" group (P=0.0137). After surgical correction, there was no difference between the two sides of mandible. At the end of the follow-up, the there was no difference between operated and non-operated ramus (P=0.1304 and 0.6420). CONCLUSION: The present study showed that a properly followed isolated functional treatment provided similar clinical results to ORIF for mandibular condylar fractures with articular impact. Surgical treatment should be preferred when the loss of height of the ramus is severe to restore the ramus height since adult condylar remodeling is less efficient than in children.


Subject(s)
Mandibular Fractures , Adult , Child , Fracture Fixation, Internal , Humans , Male , Range of Motion, Articular , Retrospective Studies , Treatment Outcome
9.
Diabet Med ; 34(12): 1684-1695, 2017 12.
Article in English | MEDLINE | ID: mdl-28782842

ABSTRACT

AIMS: To investigate whether polycystic ovary syndrome further increases postpartum diabetes risk in women with gestational diabetes mellitus and to explore relationships between polycystic ovary syndrome and incident diabetes in women who do not develop gestational diabetes. METHODS: This retrospective cohort study (Quebec Physician Services Claims; Hospitalization Discharge Databases; Birth and Death registries) included 34 686 women with gestational diabetes during pregnancy (live birth), matched 1:1 to women without gestational diabetes by age group, year of delivery and health region. Diagnostic codes were used to define polycystic ovary syndrome and incident diabetes. Cox regression models were used to examine associations between polycystic ovary syndrome and incident diabetes. RESULTS: Polycystic ovary syndrome was present in 1.5% of women with gestational diabetes and 1.2% of women without gestational diabetes. There were more younger mothers and mothers who were not of white European ancestry among those with polycystic ovary syndrome. Those with polycystic ovary syndrome more often had a comorbidity and a lower proportion had a previous pregnancy. Polycystic ovary syndrome was associated with incident diabetes (hazard ratio 1.52; 95% CI 1.27, 1.82) among women with gestational diabetes. No conclusive associations between polycystic ovary syndrome and diabetes were identified (hazard ratio 0.94; 95% CI 0.39, 2.27) in women without gestational diabetes. CONCLUSION: In women with gestational diabetes, polycystic ovary syndrome confers additional risk for incident diabetes postpartum. In women without gestational diabetes, an association between PCOS and incident diabetes was not observed. Given the already elevated risk of diabetes in women with a history of gestational diabetes, a history of both polycystic ovary syndrome and gestational diabetes signal a critical need for diabetes surveillance and prevention.


Subject(s)
Diabetes Mellitus, Type 2/epidemiology , Diabetes, Gestational/epidemiology , Polycystic Ovary Syndrome/epidemiology , Pregnancy Outcome/epidemiology , Adult , Female , Humans , Incidence , Infant, Newborn , Polycystic Ovary Syndrome/complications , Pregnancy , Pregnancy Complications/epidemiology , Quebec/epidemiology , Reproductive History , Retrospective Studies , Risk Factors , Young Adult
10.
J Stomatol Oral Maxillofac Surg ; 118(5): 320-325, 2017 Oct.
Article in English | MEDLINE | ID: mdl-28642188

ABSTRACT

Spontaneous regeneration of bone tissue after mandibular resection is rare in adults, although it does often take place in children. Periosteum conservation appears to play a major role in this healing process. We here report regarding a 5-year-old boy who exhibited a large mandibular trabecular juvenile ossifying fibroma. The lesion was treated by mandibulectomy, with careful preservation of the periosteal layer and immediate reconstruction with a costal graft by an intraoral approach. Monitoring over the course of a year revealed spontaneous mandibular regeneration, and it allowed for a series of measurements of the graft to be made. During this follow-up period, the mandibular height increased from 41.5% to 75.2% (P=0.0008) of the height of the unaffected mandibular height, while the width grew from 34.4% to 82.8% (P=0.0078) of the width of the healthy side, thus demonstrating the importance of a conservative approach regarding the periosteum in such situations. The costal graft acted as a support for bone regeneration by immobilizing the remaining bone fragments and by preventing soft-tissue prolapse.


Subject(s)
Bone Regeneration/physiology , Fibroma, Ossifying/surgery , Guided Tissue Regeneration/methods , Mandibular Neoplasms/surgery , Mandibular Osteotomy , Mandibular Reconstruction/methods , Ribs/transplantation , Child, Preschool , Fibroma, Ossifying/pathology , Free Tissue Flaps/surgery , Free Tissue Flaps/transplantation , Humans , Male , Mandibular Neoplasms/pathology , Mandibular Osteotomy/methods , Mandibular Osteotomy/rehabilitation , Organ Sparing Treatments , Periosteum/pathology , Ribs/surgery
11.
Mycotoxin Res ; 32(4): 229-236, 2016 Nov.
Article in English | MEDLINE | ID: mdl-27637586

ABSTRACT

During a 5-year period from 2010 to 2014, n = 919 samples of feed and raw materials were analyzed for aflatoxin B1 (AFB1) contamination using accredited ELISA screening methods. Only 0.76 % of these samples were non-compliant with maximum levels set by the European Union Regulation 32/2002. Non-compliant samples were mainly from the province of Bari (n = 3 samples, mean AFB1 value 7.03 µg/kg), although the highest AFB1 levels were found in two samples from the provinces of Foggia and Brindisi, at 32.6 ± 3.6 µg/kg and 31.0 ± 4.0 µg/kg, respectively. Mean AFB1 levels in samples contaminated but compliant with the limits ranged from 1.4 to 2.2 µg/kg. Considering the great importance of climate conditions in mycotoxins production, during crops production and during the critical phases of materials storage and/or transport, to better understand the variability in contamination levels, the analytical results were reviewed in term of temperature and relative environmental humidity in the sampling areas. Correlations between aflatoxin B1 levels in feed and these climate factors might explain seasonal and annual variations in contamination levels. The data from the present study provide useful suggestions for the organization of targeted monitoring plans and the protection of consumers, as well as for improvement in the quality standards of zootechnological activities and feed industry.


Subject(s)
Aflatoxin B1/analysis , Animal Feed , Food Analysis , Enzyme-Linked Immunosorbent Assay , Food Contamination , Food Storage , Humidity , Italy , Seasons , Temperature
12.
Clin Toxicol (Phila) ; 52(7): 647-50, 2014 Aug.
Article in English | MEDLINE | ID: mdl-25089720

ABSTRACT

CONTEXT: Pre-hospital administration of hydroxocobalamin (B12a) is used for empiric treatment of cyanide poisoning because cyanide poisoning is difficult to identify and requires immediate treatment. B12a interferes with the accuracy of several blood laboratory tests. This study aimed to explore how B12a affects carboxyhemoglobin (COHb) measurements in human blood at both physiologic and pathologic COHb levels. METHODS: Several clinically relevant concentrations of B12a were added to human blood samples containing physiologic (∼ 3%) and pathologic (30% and 50%) COHb levels. We then measured the COHb levels of the samples using two different co-oximeters, the Radiometer ABL 700 and the Rapidpoint 500, and compared to their actual baseline COHb levels. RESULTS: B12a had minimal effects on the COHb measured at both physiologic and pathologic levels when measured on the Radiometer. In contrast, the Rapidpoint B12a caused a dose-dependent decrease in the COHb measured, especially of pathologic COHb levels (∼ 30 and 50%). CONCLUSION: The magnitude of B12a interference on measured COHb is dependent upon the specific co-oximeter used, the actual COHb level and the serum B12a concentration. These errors may potentially influence clinical decision making and thus affect patient outcomes. Our findings emphasize the importance of measuring COHb levels on blood samples collected prior to B12a administration.


Subject(s)
Antidotes/pharmacology , Carboxyhemoglobin/analysis , Hydroxocobalamin/pharmacology , Vitamin B Complex/pharmacology , Carboxyhemoglobin/chemistry , Cyanides/poisoning , Diagnostic Errors/prevention & control , Humans , Osmolar Concentration , Oximetry , Poisoning/blood , Poisoning/diagnosis , Reproducibility of Results
13.
Eur Rev Med Pharmacol Sci ; 18(24): 3948-53, 2014.
Article in English | MEDLINE | ID: mdl-25555889

ABSTRACT

Thanks to their chemical composition, extracts from the bilberry are commonly used to manufacture food, health products, supplements and cosmetics. However, in this field, as in others, "the process is the product" and a careful characterization of the entire supply and production chain, from purity and quality of raw material to extraction procedures needs to be implemented by using validated, sensitive and specific techniques of analysis. This position paper discusses the importance of the characterization of bilberry extracts, in order to fight adulteration.


Subject(s)
Anthocyanins/chemistry , Vaccinium myrtillus/chemistry , Anthocyanins/isolation & purification , Anthocyanins/therapeutic use , Drug Contamination , Humans , Plant Extracts/chemistry , Plant Extracts/therapeutic use
14.
Food Chem Toxicol ; 46(10): 3290-4, 2008 Oct.
Article in English | MEDLINE | ID: mdl-18706466

ABSTRACT

The effect of elevated levels of dietary vitamin E, C and a combination of vitamin E and C (E&C) with soybean oil on activities of antioxidant (AOE) enzymes important in the protection against lipid peroxidation was studied in male rats fed with vitamin C (12 mg/g), vitamin E (3.68 mg/g) or E&C (3.68 mg/kg+12 mg/g) supplemented diets for 28 days. Catalase (CAT), glutathione peroxidase (GPx) and glutathione reductase (GR) activity in liver, pectoralis major (PM) and sartorius (S) muscles was increased significantly in rats fed with dietary vitamin C, E separately, and vitamin C&E combination, except, superoxide dismutase (SOD), which showed no alterations. These results clearly indicated that vitamin E&C separately and E&C together increased AOE activity in liver, PM and S muscle of rats. However, vitamin E and C combination enhanced AOE activity more significantly and our findings suggest the possible role of vitamin C&E and their combination in reducing the risk of chronic diseases related to oxidative stress.


Subject(s)
Antioxidants/metabolism , Ascorbic Acid/pharmacology , Liver/enzymology , Muscle, Skeletal/enzymology , Soybean Oil/pharmacology , Vitamin E/pharmacology , Animals , Dietary Supplements , Drug Therapy, Combination , Male , Oxidative Stress , Rats , Rats, Sprague-Dawley
15.
Int Endod J ; 41(9): 800-6, 2008 Sep.
Article in English | MEDLINE | ID: mdl-18637853

ABSTRACT

AIM: To present a clinical case of odontogenic keratocyst (OKC) simulating a lateral periodontal cyst. SUMMARY: A 39-year-old female complaining of swelling and pain in the left mandibular premolar area was found to have a radiolucent lesion between teeth 34 and 35 (FDI). Both teeth had incomplete root fillings, and orthograde re-treatment of both premolars was performed. At 2-year follow-up, radiographic examination showed an increase in the radiolucent defect with respect to the previous examination. A surgical treatment of tooth 34 was then performed, with histological examination of the lesion. Histological features were consistent with an OKC, and the lesion was successfully treated by complete enucleation and application of Carnoy's solution. At 2-year follow-up, no clinical signs or symptoms were found and the radiolucent area had disappeared. KEY LEARNING POINTS: Odontogenic keratocysts may mimic endodontic lesions. Clinicians should carefully review their cases and consider surgical intervention with biopsy in cases that do not heal.


Subject(s)
Mandibular Diseases/pathology , Odontogenic Cysts/pathology , Periapical Diseases/diagnosis , Periodontal Cyst/diagnosis , Adult , Diagnosis, Differential , Female , Humans , Keratins , Mandibular Diseases/diagnostic imaging , Mandibular Diseases/surgery , Odontogenic Cysts/diagnostic imaging , Odontogenic Cysts/surgery , Radiography , Root Canal Therapy
16.
Genes Immun ; 9(6): 501-8, 2008 Sep.
Article in English | MEDLINE | ID: mdl-18563170

ABSTRACT

Cystic fibrosis pulmonary disease is characterized by excessive and prolonged inflammation. CF Pulmonary disease severity exhibits considerable variation that, to some extent, appears to be due to the presence of modifier genes. Several components of the inflammatory response are known to have altered regulation in the CF lung. Genetic variants in 52 inflammatory genes were tested for associations with lung disease indices in a CF patient population (n=737) homozygous for the DeltaF508 cystic fibrosis transmembrane conductance regulator mutation. Variants in three inflammatory genes showed significant genotypic associations with CF lung disease severity, including IL8 and previously reported TGFbeta1 (P< or =0.05). When analyzed by gender, it was apparent that IL8 variant associations were predominantly due to males. The IL8 variants were tested in an additional CF population (n=385) and the association in males verified (P< or =0.01). The IL8 variants were in strong linkage disequilibrium with each other (R2> or =0.82), while variants in neighboring genes CXCL6, RASSF6 and PF4V1 did not associate (P> or =0.26) and were in weaker LD with each other and with the IL8 variants (0.01< or =R2< or =0.49). Studies revealed differential expression between the IL8 promoter variant alleles (P<0.001). These results suggest that IL8 variants modify CF lung disease severity and have functional consequences.


Subject(s)
Cystic Fibrosis/genetics , Cystic Fibrosis/immunology , Interleukin-8/genetics , Female , Humans , Interleukin-8/immunology , Male , Polymorphism, Single Nucleotide , Promoter Regions, Genetic , Sex Characteristics
17.
Neurology ; 71(5): 312-21, 2008 Jul 29.
Article in English | MEDLINE | ID: mdl-18160674

ABSTRACT

OBJECTIVE: We aimed to determine the frequency of all known forms of congenital muscular dystrophy (CMD) in a large Australasian cohort. METHODS: We screened 101 patients with CMD with a combination of immunofluorescence, Western blotting, and DNA sequencing to identify disease-associated abnormalities in glycosylated alpha-dystroglycan, collagen VI, laminin alpha2, alpha7-integrin, and selenoprotein. RESULTS: A total of 45% of the CMD cohort were assigned to an immunofluorescent subgroup based on their abnormal staining pattern. Abnormal staining for glycosylated alpha-dystroglycan was present in 25% of patients, and approximately half of these had reduced glycosylated alpha-dystroglycan by Western blot. Sequencing of the FKRP, fukutin, POMGnT1, and POMT1 genes in all patients with abnormal alpha-dystroglycan immunofluorescence identified mutations in one patient for each of these genes and two patients had mutations in POMT2. Twelve percent of patients had abnormalities in collagen VI immunofluorescence, and we identified disease-causing COL6 mutations in eight of nine patients in whom the genes were sequenced. Laminin alpha2 deficiency accounted for only 8% of CMD. alpha7-Integrin staining was absent in 12 of 45 patients studied, and ITGA7 gene mutations were excluded in all of these patients. CONCLUSIONS: We define the distribution of different forms of congenital muscular dystrophy in a large cohort of mixed ethnicity and demonstrate the utility and limitations of current diagnostic techniques.


Subject(s)
Genetic Predisposition to Disease/genetics , Muscle Proteins/genetics , Muscle Proteins/metabolism , Muscular Dystrophies/congenital , Muscular Dystrophies/genetics , Mutation/genetics , Australasia/ethnology , Blotting, Western , Child, Preschool , Cohort Studies , Collagen Type VI/genetics , DNA Mutational Analysis , Diagnosis, Differential , Dystroglycans/deficiency , Dystroglycans/genetics , Ethnicity/genetics , Female , Fluorescent Antibody Technique , Genetic Testing , Genotype , Humans , Infant , Infant, Newborn , Male , Mannosyltransferases/genetics , Membrane Proteins/genetics , Muscle, Skeletal/metabolism , Muscle, Skeletal/pathology , Muscle, Skeletal/physiopathology , Muscular Dystrophies/diagnosis , N-Acetylglucosaminyltransferases/genetics
18.
Int Endod J ; 41(3): 258-66, 2008 Mar.
Article in English | MEDLINE | ID: mdl-18042223

ABSTRACT

AIM: To describe the management of external invasive resorption using mineral trioxide aggregate (MTA). SUMMARY: External invasive root resorption may occur as a consequence of trauma, orthodontic treatment, intracoronal bleaching and surgical procedures, and may lead to the progressive and destructive loss of tooth structure. Depending on the extent of the resorptive process, different treatment regimens have been proposed. A 19-year-old male patient presented with tooth 11 (FDI) showing signs and symptoms of irreversible pulpitis, external invasive resorption and periodontal pocket on the disto-palatal. After root canal treatment, the defect was accessed coronally. The resorption area was chemo-mechanically debrided using ultrasonic tips and irrigant solution. MTA was used to fill the resorptive defect, and the coronal access was temporarily sealed. The definitive coronal restoration was performed after 3 days. Radiographs at 1, 2 and 4 years showed adequate repair of the resorption and endodontic success. Clinically, the tooth was asymptomatic, and no periodontal pocket was found. KEY LEARNING POINTS: *Mineral trioxide aggregate was successfully used to restore a small area of external invasive resorption. *A coronal approach can sometimes be successfully used in order to avoid surgery and periodontal complications.


Subject(s)
Aluminum Compounds/therapeutic use , Calcium Compounds/therapeutic use , Incisor/injuries , Oxides/therapeutic use , Root Canal Filling Materials/therapeutic use , Root Resorption/therapy , Silicates/therapeutic use , Tooth Fractures/complications , Adult , Drug Combinations , Humans , Incisor/diagnostic imaging , Incisor/drug effects , Male , Pulpitis/diagnostic imaging , Pulpitis/therapy , Radiography , Root Resorption/diagnostic imaging , Tooth Fractures/diagnostic imaging , Tooth Fractures/drug therapy
19.
Minerva Pediatr ; 59(4): 397-401, 2007 Aug.
Article in English | MEDLINE | ID: mdl-17947845

ABSTRACT

Turner's syndrome (TS) is characterized by typical facial features, short stature, hypergonadotropic hypogonadism, streak gonads, infertility, hearth and kidney malformations. Typical karyotype is 45,X0; however, 6% of TS have mosaic patterns including Y chromosome or fragments of Y. This karyotype is a risk factor of developing a dysgerminoma in dysgenic gonads. Furthermore, rare cases of polycystic ovary are described in young-adult patients with TS. We describe the clinical case of a 12-year-old girl with TS treated with GH who showed a good response to treatment. She developed an ovary with histological polycystic pattern and a contralateral gonadoblastoma in the streak gonad. Laparoscopic gonadectomy was performed, with a good prognosis. Of remark is the opportunity to carry out gonadectomy in prepubertal age in girls with TS and Y chromosome material. This is a rare precocious case of polycystic ovary in TS, with different evolution in the two gonads with different histological differentiation.


Subject(s)
Gonadoblastoma/etiology , Ovarian Neoplasms/etiology , Polycystic Ovary Syndrome/etiology , Turner Syndrome/complications , Child , Female , Gonadoblastoma/surgery , Humans , Ovarian Neoplasms/surgery , Polycystic Ovary Syndrome/surgery
20.
Int Endod J ; 40(6): 478-84, 2007 Jun.
Article in English | MEDLINE | ID: mdl-17403040

ABSTRACT

AIM: To examine the clinical and radiographic appearance of teeth that suffered premature interruption of root development and were treated by an mineral trioxide aggregate (MTA) apical plug technique. SUMMARY: Eleven teeth with immature root apices in 11 patients were treated nonsurgically by the manual application of MTA in the apical portion of the root canal under microscopic vision. Follow-up evaluations were performed at 1-2 years after treatment. KEY LEARNING POINTS: Mineral trioxide aggregate appears to be a valid material to obtain periradicular healing in teeth with open apices and necrotic pulps. Ten out of 11 cases were associated with periradicular health at follow-up evaluation.


Subject(s)
Aluminum Compounds/therapeutic use , Calcium Compounds/therapeutic use , Oxides/therapeutic use , Root Canal Filling Materials/therapeutic use , Root Canal Therapy/methods , Silicates/therapeutic use , Tooth Apex/pathology , Adolescent , Adult , Child , Dental Pulp Cavity/pathology , Dental Pulp Necrosis/therapy , Dental Restoration, Permanent/methods , Drug Combinations , Female , Follow-Up Studies , Gutta-Percha/therapeutic use , Humans , Male , Microscopy , Odontogenesis/physiology , Tooth, Nonvital/therapy , Wound Healing/physiology
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