385 research outputs found
Double talon cusps on supernumerary tooth fused to maxillary central incisor: review of literature and report of case
Human tooth development is a continuous process begin at the sixth weeks in utero and extends to about sixth
months after birth for the primary dentition and from sixteenth week in utero to late adolescence for permanent
dentition. There is no other organ of the human body which takes so long to attain its ultimate morphology as
dentition. Several physiologic growth processes participate in the progressive development of the teeth including:
initiation, proliferation, histodifferentiation, morphodifferentiation, apposition, calcification, and eruption. Aberra
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tions in different stages of tooth development can result in unique manifestations both in primary and permanent
dentitions. The fact that premaxilla is the predilection site for the occurrence of supernumerary teeth, talon cusp,
dens invaginatus, and geminated teeth may suggest that the embryological development of premaxilla differ from
other sites of the jaws. The dental abnormalities presented in this review are of great concern to dentist and parents
because they create clinical, pathological and esthetic problems. Dental practitioner should be aware of the clinical
sign, associated problems and treatment options for a given case
Impact of adding palatal rugae to complete dentures on patient satisfaction and oral health-related quality of life: A randomized crossover clinical trial
STATEMENT OF PROBLEM: The addition of palatal rugae to complete dentures has been suggested to improve the satisfaction of patients with different oral functions. However, clinical studies to support these claims are lacking. PURPOSE: The purpose of this randomized, single-blind, 2-period crossover trial was to assess the satisfaction of edentulous patients and their oral health impact profile when provided with complete dentures with palatal rugae compared with a polished palate. MATERIAL AND METHODS: Edentulous patients aged 45 to 80 years, with no relevant medical conditions, seeking complete dentures at a university hospital between May and July 2019 were recruited. Each participant received new complete dentures. After a 1-week adaptation period, the participants were randomly allocated to 2 sequences through a computer-generated sequence. In the first sequence, palatal rugae were added to the complete dentures, and after 2 months, the palatal rugae were removed and the dentures used for another 2 months. In the second sequence, the opposite sequence was followed: polished palate first and palatal rugae second. After each period, a blinded dentist asked participants to rate their general satisfaction on a 100-mm visual analog scale (primary outcome) and to rate their satisfaction regarding eating, taste perception, speaking, phonetics, and ease of cleaning. Participants were also asked to fill the 20-item oral health impact profile for edentulous patients (OHIP-EDENT). The paired sample t test and the Wilcoxon test were used (α=.05). RESULTS: Fifty participants were randomized, of whom 6 dropped out. No significant differences were found between ratings for the 2 palatal contours in terms of general satisfaction 2.32 (95% confidence interval: -3.65 to 8.29, P=.438), eating 1.70 (95% confidence interval: -4.05 to 7.46, P=.554), taste perception 0.57 (95% confidence interval -5.04 to 6.17, P=.839), phonetics 1.48 (95% confidence interval -4.46 to 7.41, P=.618), or speaking 3.68 (95% confidence interval: -1.92 to 9.28, P=.192). However, satisfaction with ease of cleaning dentures with palatal rugae was significantly less 12.16 (95% confidence interval: 6.81 to 17.50, P.05), except for the frequency of mealtime interruption (P=.041), which was reported to increase when rugae had been provided. CONCLUSIONS: Complete dentures with palatal rugae were not perceived to improve patient satisfaction or oral health-related quality of life. However, they were perceived to be more difficult to clean and to increase frequency of interruptions during eating
Osteolytic clear cell meningioma of the petrous bone occurring 36 years after posterior cranial fossa irradiation: Case report
Objective and importance
While bone invasion and hyperostosis are frequent phenomena in meningiomas, primary intraosseous meningiomas are rare and their occurrence in the skull base is an extraordinary exception. Moreover, radiation-induced meningiomas represent a unique clinical dilemma given the fact that patients with these tumors had often received a prior full course of radiotherapy.
Clinical presentation
A 42-year-old man presented with a 3-month history of progressively worsening facial asymmetry. His medical history was consistent for a posterior cranial fossa irradiation at the age of 6 years for a non-confirmed brain stem tumor. On admission his Karnofsky performance status was graded as 50% and his neurological examination showed a complete right facial nerve paralysis and hearing impairment. Computed tomography and magnetic resonance imaging demonstrated an osteolytic tumor invading the whole right petrous bone without intracranial involvement.
Intervention
As the tumor reached the external auditory canal, a tissue sample was obtained locally. Pathological examination of the lesion identified a grade II clear cell meningioma and the patient was consequently addressed for an intensity modulated radiation therapy. His condition remained unchanged till the most recent follow-up examination, 8 months later.
Conclusions
To the best of our knowledge, a radiation induced osteolytic clear cell meningioma of the petrous bone has not been previously reported. As little literature exists regarding the use of adjuvant therapies for these tumors, intensity modulated radiation therapy remains an attractive treatment option in case of pervious irradiation and general status alteration
Extraction of the Volatile Oils of Dictyopteris membranacea Batters 1902 by Focused Microwave-assisted Hydrodistillation and Supercritical Carbon Dioxide: Empirical Kinetic Modelling Approach, Apparent Solubility and Rate Constants
Supercritical carbon dioxide extraction (SCCO2) and focused microwave-assisted hydrodistillation (FMAHD) were used comparatively to isolate the volatile oils of the
brown alga Dictyopteris membranacea from the crude ether extract. The volatiles fractions were analysed by GC/MS, the major compounds were: dictyopterene A, 6-butyl-1,4-cycloheptadiene, 1-undecen-3-one, 1,4-undecadien-3-one, (3-oxoundec-4-enyl) sulphur, tetradecanoic acid, hexadecanoic acid, 3-hexyl-4,5-dithiacycloheptanone, and albicanol. A kinetics study of the extraction of the volatile fractions obtained by the two processes was carried out, an external calibration allowed to quantify the content of the main metabolites. Empirical models were applied to adjust the experimental kinetics values but also to determine the values of apparent solubilities for SCCO2 and the rate constants for FMAHD. The results obtained revealed that the SCCO2 process was characterized by the coexistence of three distinct phases. For FMAHD, the extraction mechanism included two steps.
This work is licensed under a Creative Commons Attribution 4.0 International License
Carbohydrates and lipids metabolic enzymes inhibitory, antioxidant, antimicrobial and cytotoxic potentials of Anchusa ovata Lehm. from Palestine
Introduction: Throughout history, therapeutically active plant products have received substantial attention due
to their valuable role in the discoveries of specific medications. The aim of this study was to assess, for the first
time, the antimicrobial, antioxidant, antilipase, anti-α-amylase and cytotoxic properties of four fractions derived
from Anchusa ovata Lehm. (AO) leaves.
Methods: Antioxidant, antilipase and anti-amylase potentials of (AO) were established using DPPH (1,1-diphenyl-
2-picrylhydrazyl), p-nitrophenyl butyrate and dinitro-salicylic acid procedures, respectively, while antimicrobial
activity was conducted using broth microdilution assay against eight Gram-positive, Gram-negative bacterial
strains in addition to one fungal strain. Moreover, the MTS [3-(4,5-dimethylthiazol-2-yl)-5-(3-carboxymethoxyphenyl)-
2-(4-sulfophenyl)-2H-tetrazolium] cytotoxic assay was utilized against cervical cancer cells (HeLa).
Results: The methanol fraction of AO showed potential antioxidant, antilipase, and α-amylase inhibitory activities
with IC50 values of 9.55 ± 0.13, 53.7 ± 0.41 and 16.55 ± 1.84 μg/ml, respectively compared with the
positive controls Trolox, Orlistat and Acarbose that had IC50 values of 3.23 ± 0.92, 12.3 ± 0.35 and
28.18 ± 1.22 μg/ml, respectively. Moreover, the hexane, acetone, and methanol fractions had wide ranges of
antimicrobial potential. In addition, the cytotoxic activity outcomes which showed the best activity was for the
aqueous followed by acetone, hexane and methanol fractions with IC50 values of 1.04, 2.72, 3.96 and 17.67 mg/
ml, respectively.
Conclusion: Our data demonstrate a wide range of biological characteristics for each AO plant fraction. This
profiling information about the methanol fraction provided important data for further research and pharmaceutical
applications.The authors would like to acknowledge the Faculty of Medicine and
Health Sciences at An-Najah National University for facilitating the
accomplishment of the current study
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Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians
Background
In diagnosis of rare genetic diseases we face a decision as to the degree to which the sequencing lab offers one or more diagnoses based on clinical input provided by the clinician, or the clinician reaches a diagnosis based on the complete set of variants provided by the lab. We tested a software approach to assist the clinician in making the diagnosis based on clinical findings and an annotated genomic variant table, using cases already solved using less automated processes.
Results
For the 81 cases studied (involving 216 individuals), 70 had genetic abnormalities with phenotypes previously described in the literature, and 11 were not described in the literature at the time of analysis (“discovery genes”). These included cases beyond a trio, including ones with different variants in the same gene. In 100% of cases the abnormality was recognized. Of the 70, the abnormality was ranked #1 in 94% of cases, with an average rank 1.1 for all cases. Large CNVs could be analyzed in an integrated analysis, performed in 24 of the cases. The process is rapid enough to allow for periodic reanalysis of unsolved cases.
Conclusions
A clinician-friendly environment for clinical correlation can be provided to clinicians who are best positioned to have the clinical information needed for this interpretation
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy
Objective: Defects in ion channels and neurotransmitter receptors are implicated in developmental and epileptic encephalopathy (DEE). Metabotropic glutamate receptor 7 (mGluR7), encoded by GRM7, is a presynaptic G-protein-coupled glutamate receptor critical for synaptic transmission. We previously proposed GRM7 as a candidate disease gene in two families with neurodevelopmental disorders (NDDs). One additional family has been published since. Here, we describe three additional families with GRM7 biallelic variants and deeply characterize the associated clinical neurological and electrophysiological phenotype and molecular data in 11 affected individuals from six unrelated families. Methods: Exome sequencing and family-based rare variant analyses on a cohort of 220 consanguineous families with NDDs revealed three families with GRM7 biallelic variants; three additional families were identified through literature search and collaboration with a clinical molecular laboratory. Results: We compared the observed clinical features and variants of 11 affected individuals from the six unrelated families. Identified novel deleterious variants included two homozygous missense variants (c.2671G>A:p.Glu891Lys and c.1973G>A:p.Arg685Gln) and one homozygous stop-gain variant (c.1975C>T:p.Arg659Ter). Developmental delay, neonatal- or infantile-onset epilepsy, and microcephaly were universal. Three individuals had hypothalamic–pituitary–axis dysfunction without pituitary structural abnormality. Neuroimaging showed cerebral atrophy and hypomyelination in a majority of cases. Two siblings demonstrated progressive loss of myelination by 2 years in both and an acquired microcephaly pattern in one. Five individuals died in early or late childhood. Conclusion: Detailed clinical characterization of 11 individuals from six unrelated families demonstrates that rare biallelic GRM7 pathogenic variants can cause DEEs, microcephaly, hypomyelination, and cerebral atrophy. © 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association
Report of 14th meeting for MEDiterranean International Acoustic Surveys (MEDIAS) in the framework of European Data Collection Framework (DCF)
A monoclonal antibody raised against bacterially expressed MPV17 sequences shows peroxisomal, endosomal and lysosomal localisation in U2OS cells
Recessive mutations in the MPV17 gene cause mitochondrial DNA depletion syndrome, a fatal infantile genetic liver disease in humans. Loss of function in mice leads to glomerulosclerosis and sensineural deafness accompanied with mitochondrial DNA depletion. Mutations in the yeast homolog Sym1, and in the zebra fish homolog tra cause interesting, but not obviously related phenotypes, although the human gene can complement the yeast Sym1 mutation. The MPV17 protein is a hydrophobic membrane protein of 176 amino acids and unknown function. Initially localised in murine peroxisomes, it was later reported to be a mitochondrial inner membrane protein in humans and in yeast. To resolve this contradiction we tested two new mouse monoclonal antibodies directed against the human MPV17 protein in Western blots and immunohistochemistry on human U2OS cells. One of these monoclonal antibodies showed specific reactivity to a protein of 20 kD absent in MPV17 negative mouse cells. Immunofluorescence studies revealed colocalisation with peroxisomal, endosomal and lysosomal markers, but not with mitochondria. This data reveal a novel connection between a possible peroxisomal/endosomal/lysosomal function and mitochondrial DNA depletion
Encouraging female entrepreneurship in Jordan: environmental factors, obstacles and challenges
The number of female entrepreneurs and their contribution to the economy is steadily rising. Yet research suggests that female entrepreneurs face more challenges and barriers than their male counterparts. This is expected to be even more prevalent in Islamic contexts, which are characterised by conservative and patriarchal societies. In this research, 254 female business students from a private and a public university responded to a questionnaire that gauges their perceptions about potential barriers to entrepreneurship in Jordan and whether the business education they are receiving helps to prepare them for future entrepreneurial activity. Our results help to form a basis on which a deeper understanding of the phenomena can be achieved through more in depth future research. Among the main environmental factors that worry potential female entrepreneurs are the weakness of Jordanian economy, lack of finance, fear of risk, gender inequality and inability to maintain a work and private life balance. Our results also show that students are really not aware of the opportunities available to them and are unable to make a proper assessment. We call on both universities and the Jordanian government to put more emphasis on practical entrepreneurial education and encouraging women to play a much more active role within the workforce
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