Aims
The gene
SLC2A2
encodes GLUT2, which is found predominantly in pancreas, liver, kidney and intestine. In mice, GLUT2 is the major glucose transporter into pancreatic beta cells, and biallelic
...Slc2a2
inactivation causes lethal neonatal diabetes. The role of GLUT2 in human beta cells is controversial, and biallelic
SLC2A2
mutations cause Fanconi–Bickel syndrome (FBS), with diabetes rarely reported. We investigated the potential role of GLUT2 in the neonatal period by testing whether
SLC2A2
mutations can present with neonatal diabetes before the clinical features of FBS appear.
Methods
We studied
SLC2A2
in patients with transient neonatal diabetes mellitus (TNDM;
n
= 25) or permanent neonatal diabetes mellitus (PNDM;
n
= 79) in whom we had excluded the common genetic causes of neonatal diabetes, using a combined approach of sequencing and homozygosity mapping.
Results
Of 104 patients, five (5%) were found to have homozygous
SLC2A2
mutations, including four novel mutations (S203R, M376R, c.963+1G>A, F114LfsX16). Four out of five patients with
SLC2A2
mutations presented with isolated diabetes and later developed features of FBS. Four out of five patients had TNDM (16% of our TNDM cohort of unknown aetiology). One patient with PNDM remains on insulin at 28 months.
Conclusions
SLC2A2
mutations are an autosomal recessive cause of neonatal diabetes that should be considered in consanguineous families or those with TNDM, after excluding common causes, even in the absence of features of FBS. The finding that patients with homozygous
SLC2A2
mutations can have neonatal diabetes supports a role for GLUT2 in the human beta cell.
Context:
GLIS3 (GLI-similar 3) is a member of the GLI-similar zinc finger protein family encoding for a nuclear protein with 5 C2H2-type zinc finger domains. The protein is expressed early in ...embryogenesis and plays a critical role as both a repressor and activator of transcription. Human GLIS3 mutations are extremely rare.
Objective:
The purpose of this article was determine the phenotypic presentation of 12 patients with a variety of GLIS3 mutations.
Methods:
GLIS3 gene mutations were sought by PCR amplification and sequence analysis of exons 1 to 11. Clinical information was provided by the referring clinicians and subsequently using a questionnaire circulated to gain further information.
Results:
We report the first case of a patient with a compound heterozygous mutation in GLIS3 who did not present with congenital hypothyroidism. All patients presented with neonatal diabetes with a range of insulin sensitivities. Thyroid disease varied among patients. Hepatic and renal disease was common with liver dysfunction ranging from hepatitis to cirrhosis; cystic dysplasia was the most common renal manifestation. We describe new presenting features in patients with GLIS3 mutations, including craniosynostosis, hiatus hernia, atrial septal defect, splenic cyst, and choanal atresia and confirm further cases with sensorineural deafness and exocrine pancreatic insufficiency.
Conclusion:
We report new findings within the GLIS3 phenotype, further extending the spectrum of abnormalities associated with GLIS3 mutations and providing novel insights into the role of GLIS3 in human physiological development. All but 2 of the patients within our cohort are still alive, and we describe the first patient to live to adulthood with a GLIS3 mutation, suggesting that even patients with a severe GLIS3 phenotype may have a longer life expectancy than originally described.
This paper reports on an experimental investigation into heat transfer and mass flow in thermosyphoning air heaters, such as solar chimneys and Trombe Walls. The test rig comprised a vertical ...open-ended channel with closed sides, resembling a solar collector or solar chimney approximately 1
m
2. Close control of the heat input was achieved by using an electrical heating mat—steady-state heat inputs ranged from 200 to 1000
W, and the channel depth was varied between 20 and 110
mm. Temperatures were recorded throughout the test rig, as was the air velocity. The principal results from the data showed:
•
The mass flow rate through the channel was a function of both the heat input and the channel depth:
m
∝
Q
i
0.572
and
m
∝
s
0.712
•
The thermal efficiency of the system (as a solar collector) was a function of the heat input, and not dependent on the channel depth:
η
∝
Q
i
0.298
Correlations are given in dimensionless forms.
Background. Inducing puberty in hypogonadal patients enables achieving normal final adult height and healthy bone mass accrual and improves fertility potential. Reliable availability and access to ...medicines remain a challenge around the world, particularly in low-income countries. Aim. We aimed to describe the availability/access to medications used for inducing and maintaining puberty in centers within the Arab region. Method. A cross-sectional survey was conducted using a link to an online questionnaire, which was emailed to paediatric endocrinologists in the Arab region. The questionnaire consisted of three questions related to the availability of various forms of sex hormones. Results. 99 physicians from 16 countries participated in the study. The commonest available form of estrogen was conjugated estrogen (29% of centers), followed by ethinylestradiol (26%). Depot estradiol was available in 11 centers, while topical estrogen preparations of gel and patches were available in 6 and 10 centers, respectively. Medroxy progesterone was available in 26% of the centers, followed by norethisterone (24%). The combined forms of oral and transdermal patches of estrogen/progesterone were available in 35% and 9% of centers, respectively. Intramuscular testosterone (Sustanon) was the most commonly available preparation of testosterone, followed by the depot injection (Nebido), oral testosterone, and testosterone gel and cream. Conclusions. We report the first available data on medications used for puberty induction and maintenance in paediatric hypogonadism in the Arab region. Recommended preparations for this purpose are not widely available. Creating an essential list of medications used in paediatric endocrinology disorders might improve availability, access, and consequently practice.
Background: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterized by isolated glucocorticoid deficiency. Mutations in the ACTH receptor melanocortin 2 receptor ...(MC2R) or the MC2R accessory protein (MRAP) cause FGD types 1 and 2, respectively. Typically, type 2 patients present early (median age, 0.1 yr), and no patient reported to date has presented after 1.6 yr.
Aim: The aim of this study was to investigate the cause of disease in two families with late-onset FGD.
Patients: The proband in family 1 was diagnosed at age 4 yr. Family review revealed two older siblings with undiagnosed FGD. One sibling was well, whereas the second had cerebral palsy secondary to hypoglycemic seizures. The proband in family 2 was diagnosed at age 18 yr with symptoms of fatigue, weight loss, and depression.
Methods: The coding exons of MC2R and MRAP were sequenced. ACTH dose-response curves were generated for MC2R when transfected with wild-type or mutant MRAP constructs using HEK293 cells. MC2R trafficking with both mutant MRAPs was investigated using immunocytochemistry.
Results: MRAP gene analysis identified two novel homozygous missense mutations, c.175T>G (pY59D) in family 1 and c.76T>C (p.V26A) in family 2.
In vitro analysis showed that the Y59D mutant had significant impairment of cAMP generation, and both mutants caused a shift in the dose-response curve to the right when compared to wild type. Immunocytochemistry showed normal trafficking of MC2R when transfected with both mutant MRAPs, indicating a probable signaling defect.
Conclusion: These results indicate that missense MRAP mutations present with a variable phenotype of ACTH resistance and can present late in life.
Two novel mutations in MRAP are described that lead to late onset FGD2; appropriately functional characterization confirms these mutations have reduced but not absent function.
Under greenhouse conditions, the resistance of 18 different genotypes of flax to powdery mildew was evaluated. To investigate genetic diversity and identify the molecular and biochemical markers ...linked to powdery mildew resistance in the tested genotypes, two molecular marker systems-start codon targeted (SCoT) and inter-simple sequence repeat (ISSR)-as well as a biochemical marker (protein profiles, antioxidant enzyme activity, and secondary metabolites) were used. Based on the results, the genotypes were classified into four categories: highly susceptible, susceptible, moderately susceptible, and moderately resistant. The genotypes differed significantly in powdery mildew severity: Polk had a severity of 92.03% and Leona had a severity of 18.10%. Compared to the other genotypes, the moderately resistant genotypes had higher levels of flavonoids, antioxidant enzymes, phenolics, and straw yield; nevertheless, their hydrogen peroxide and malondialdehyde levels were lower. Protein profiles revealed 93.75% polymorphism, although the ISSR marker displayed more polymorphism (78.4%) than the SCoT marker (59.7%). Specific molecular and biochemical markers associated with powdery mildew resistance were identified. The 18 genotypes of flax were divided into two major clusters by the dendrogram based on the combined data of molecular markers. The first main cluster included Leona (genotype number 7), considered moderate resistance to powdery mildew and a separate phenetic line. The second main cluster included the other 17 genotypes, which are grouped together in a sub-cluster. This means that, besides SCoT, ISSR markers can be a useful supplementary technique for molecular flax characterization and for identifying genetic associations between flax genotypes under powdery mildew infection.
ZnO-based nanomaterials have high antifungal effects, such as inhibition of growth and reproduction of some pathogenic fungi, such as Fusarium sp., Rhizoctonia solani and Macrophomina phaseolina. ...Therefore, we report the extracellular synthesis of ZnONPs using a potential fungal antagonist (Trichoderma harzianum). ZnONPs were then characterized for their size, shape, charge and composition by visual analysis, UV–visible spectrometry, X-ray diffraction (XRD), Zeta potential, transmission electron microscopy (TEM), scanning electron microscopy (SEM) and energy-dispersive X-ray analysis (EDX). The TEM test confirmed that the size of the produced ZnONPs was 8–23 nm. The green synthesized ZnONPs were characterized by Fourier transform infrared spectroscopy (FTIR) studies to reveal the functional group attributed to the formation of ZnONPs. For the first time, trichogenic ZnONPs were shown to have fungicidal action against three soil–cotton pathogenic fungi in the laboratory and greenhouse. An antifungal examination was used to evaluate the bioactivity of the mycogenic ZnONPs in addition to two chemical fungicides (Moncut and Maxim XL) against three soil-borne pathogens, including Fusarium sp., Rhizoctonia solani and Macrophomina phaseolina. The findings of this study show a novel fungicidal activity in in vitro assay for complete inhibition of fungal growth of tested plant pathogenic fungi, as well as a considerable reduction in cotton seedling disease symptoms under greenhouse conditions. The formulation of a trichogenic ZnONPs form was found to increase its antifungal effect significantly. Finally, the utilization of biocontrol agents, such as T. harzianum, could be a safe strategy for the synthesis of a medium-scale of ZnONPs and employ it for fungal disease control in cotton.
Given the spread of the COVID-19 pandemic, online classes have received special attention worldwide. Since teachers have a lasting effect on the students, the teacher-student relationship is a ...pivotal factor in language learning classes. Students will not be engaged in class activities if they are not sufficiently challenged by them or if they do not find them interesting, especially in online classes. From this point of view, motivating, engaging, and testing techniques in online classes are highly important. The present study attempts to demonstrate a correlation between structured feedback and three types of engagement in an online class: cognitive, behavioral, and emotional engagement. The structured feedback, which is used at the end of each lesson lets the students express what they know, what they want to know, and what they learned. The sample of the study consists of 114 EFL third-year college students. The study's findings reveal positive and significant correlations between the three types of engagement; cognitive, behavioral, and emotional, and the use of structured feedback in online classes. In a nutshell, some academic implications and recommendations are provided.
Background
A few people infected by the coronavirus become seriously ill, while others show little to no signs of the symptoms, or are asymptomatic. Recent researches are pointing to the fact that ...the ABO blood group might play an important role in a person’s susceptibility and severity of COVID-19 infection. Aim of the study: try to understand the relationship between ABO groups and COVID-19 (susceptibility and severity).
Results
A total of (507) patients were included in this study. The study population was divided based on the ABO blood group into types A+, A−, B+, AB, O+, and O−. Blood group A was associated with high susceptibility of infection: group A, 381 (75.1%); and less common in group O, 97 (19.2%), group B, 18 (3.5%), and group AB, 11 (2.2%). The severity of COVID-19 infection was common in non-blood group O where (20 (7.1%), 4 (26.7%), 2 (11%), and 1 (9%) in type A+, A−, B+, and AB, respectively), while in type O 3.1%. And mechanically ventilated patients were 22 (5.9%), 2 (13.4%), 2 (11.1%), and 1 (1%). Mortality was high in blood groups A and B, 16 (4.37%) and 1 (5.5%), respectively, while in blood group O, it was 1%.
Conclusion
The incidence, severity, and mortality of COVID-19 were common in non-blood group O. While blood group O was protected against COVID-19.
The teaching and learning process is facing many unprecedented challenges that require innovative solutions in the short life of knowledge and the abrupt development of technology. Some of these ...challenges are the new roles of teachers who are the main constituents in the online teaching process. The main aim of this study revolved around determining and analyzing university students' priorities concerning the competency categorization and roles of online teachers. The research was based on Moodle and Google classroom to validate the competency elements with the final aim of improving teaching and learning processes. The data were collected by using an online questionnaire that evaluated eight dimensions of competencies and roles of online teachers. The research sample consisted of 430 participants (aged between 19 and 30) from Iraq and Oman. The results obtained from these two countries were very similar as the respondents highlighted professional, pedagogical and social competencies in their teachers. It further shows that though the applications used in the two contexts were different (Google classroom with Google Meet or Moodle), it did not affect the final results gained. The results of this survey could be important for further analysis of online teaching practice and bring several important insights regarding the possibilities of online teaching.
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