Health-related quality of life assessment in a group of children with juvenile idiopathic arthritis

Background: JIA is known to affect the physical and social wellbeing and impact scholastic achievement of children. Health-related quality of life (HRQOL) is an important outcome measure in understanding the impact of chronic illness. Objective: We sought to evaluate the HRQOL of a group of children with juvenile idiopathic arthritis (JIA) to uncover their main problems that might prevent them from leading a normal life . Methods: We consecutively enrolled 119 JIA patients who were classified according to the ILAR criteria into 16 cases with oligoarticular (13.4%), 36 with polyarticular (30.3%) and 67 with systemic JIA (56.3%). They were 62 (52.1%) males and 57 (47.9%) females with a mean age of 7.7 years. Patients were evaluated by the Pediatric Quality of Life Inventory TM Version 4.0 (PedsQLTM) questionnaire. Results: Physical and feeling problem scores were negatively correlated to age, age at onset, diagnostic lag and diseases duration. The learning problem score showed negative correlation with age, age at onset and receival of non-steroidal anti-inflammatory drugs (NSAIDs) pointing to the favorable effect of pain control on the quality of life. Also, learning and social problem scores were positively correlated to the diagnostic lag. Total scores showed negative correlation with age and age at onset. Conclusion: JIA has an important impact on the HRQOL and normal development. Pain control is mandatory for reduction of learning problems via the judicious use of NSAIDs and the delay in diagnosis was associated with unfavorable learning and social outcome

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

Heat and Mass Transfer Enhancement in Absorption of Vapor in Laminar Liquid Film by Adding Nano-Particles

In this paper, a numerical study was performed. The effect of nanoparticles on the absorption of vapor into a liquid film of lithium bromide aqueous solution flowing down over a cooled vertical channel is examined. The present model uses the numerical finite volume method to solve the parabolic governing equations for two-dimensional and laminar flow. In this model, the cooling water flows countercurrent to a solution of concentrated lithium bromide mixed with the nanoparticles. The water vapor is then absorbed at the interface of the absorbent film and diffused into the binary nanofluid (water-LiBr+nanoparticles). The numerical results indicate that the mass and heat transfer in binary nanofluids are enhanced more than that in base fluid and the highest absorption mass flux is observed by adding argent (Ag) nanoparticles. The results of the effects of operating conditions show that the effectiveness of the nanofluid becomes higher than that with the base fluid when the Reynolds number and inlet concentration are lower and when the inlet temperature solution and inlet pressure are higher

Case Report: Unusual association of gubernacular canal, supernumerary tooth and odontoma with an impacted canine on cone beam computed tomography

This report describes a clinical case of asymptomatic compound odontoma in the anterior left side of the maxilla associated with an impacted canine and supernumerary tooth with a gubernacular canal of a 47- year-old female with no relevant medical history. Cone-beam computed tomography (CBCT) was performed for precise three-dimensional localization of each structure and assessment of their spatial relationship with the associated structures before surgery. The treatment protocol involved surgical enucleation of the odontoma and open extraction of both impacted and supernumerary teeth. Patient had uneventful healing and proceeded with the prosthodontic treatment plan. An experienced clinician can accurately diagnose a compound odontoma, as it has distinctive clinical and radiographic features. Thus, early detection and management of odontomas can help correction of any dental irregularity and avoid further complications.Scopu

Case Report: An association of the gubernacular canal, supernumerary tooth and odontoma with an impacted canine on cone-beam computed tomography [version 2; peer review: 3 approved]

This report describes a clinical case of asymptomatic compound odontoma in the anterior left side of the maxilla associated with an impacted canine and supernumerary tooth with a gubernacular canal of a 47- year-old female with no relevant medical history. Cone-beam computed tomography (CBCT) was performed for precise threedimensional localization of each structure and assessment of their spatial relationship with the associated structures before surgery. The treatment protocol involved surgical enucleation of the odontoma and open extraction of both impacted and supernumerary teeth. The patient had uneventful healing and proceeded with the prosthodontic treatment plan. The dentist should be aware of the probability of a close relationship between the development of odontoma and presence of the gubernacular tract, which could be used as a future radiographic diagnostic criterion of an odontoma. Also, we recommend that more studies be performed in this field to deeply analyze the imaging characteristics of GT and its spatial association with various pathological lesions in the future.Grant information: This research was funded by the Deanship of Scientific Research at Princess Nourah bint Abdulrahman University through the Fast-track Research Funding Program.Scopu

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

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

Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes

Mitochondrial DNA (mtDNA) deletions are a common cause of mitochondrial disorders. Large mtDNA deletions can lead to a broad spectrum of clinical features with different age of onset, ranging from mild mitochondrial myopathies (MM), progressive external ophthalmoplegia (PEO), and Kearns-Sayre syndrome (KSS), to severe Pearson syndrome. The aim of this study is to investigate the molecular signatures surrounding the deletion breakpoints and their association with the clinical phenotype and age at onset. MtDNA deletions in 67 patients were characterized using array comparative genomic hybridization (aCGH) followed by PCR-sequencing of the deletion junctions. Sequence homology including both perfect and imperfect short repeats flanking the deletion regions were analyzed and correlated with clinical features and patients' age group. In all age groups, there was a significant increase in sequence homology flanking the deletion compared to mtDNA background. The youngest patient group (<6 years old) showed a diffused pattern of deletion distribution in size and locations, with a significantly lower sequence homology flanking the deletion, and the highest percentage of deletion mutant heteroplasmy. The older age groups showed rather discrete pattern of deletions with 44% of all patients over 6 years old carrying the most common 5 kb mtDNA deletion, which was found mostly in muscle specimens (22/41). Only 15% (3/20) of the young patients (<6 years old) carry the 5 kb common deletion, which is usually present in blood rather than muscle. This group of patients predominantly (16 out of 17) exhibit multisystem disorder and/or Pearson syndrome, while older patients had predominantly neuromuscular manifestations including KSS, PEO, and MM. In conclusion, sequence homology at the deletion flanking regions is a consistent feature of mtDNA deletions. Decreased levels of sequence homology and increased levels of deletion mutant heteroplasmy appear to correlate with earlier onset and more severe disease with multisystem involvement

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