Abstract Background Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder originating from defects in the branched-chain α-ketoacid dehydrogenase (BCKDH) complex encoded by ...BCKDHA, BCKDHB and DBT. This condition presents a spectrum of symptoms and potentially fatal outcomes. Although numerous mutations in the BCKDH complex genes associated with MSUD have been identified, the relationship between specific genotypes remains to be fully elucidated. Aim Our objective was to predict the pathogenicity of these genetic mutations and establish potential links between genotypic alterations and the clinical phenotypes of MSUD. Design Retrospective population-based cohort. Methods We analyzed 20 MSUD patients from the Children’s Hospital at Zhejiang University School of Medicine (Hangzhou, China), recorded from January 2010 to December 2023. Patients’ blood samples were collected by heel-stick through neonatal screening, and amino acid profiles were measured by tandem mass spectrometry. In silico methods were employed to assess the pathogenicity, stability and biophysical properties. Various computation tools were utilized for assessment, namely PredictSNP, MAGPIE, iStable, Align GVGD, ConSurf and SNP effect. Results We detected 25 distinct mutations, including 12 novel mutations. The BCKDHB gene was the most commonly affected (53.3%) compared to the BCKDHA gene (20.0%) and DBT gene (26.7%). In silico webservers predicted all novel mutations were disease-causing. Conclusions This study highlights the genetic complexity of MSUD and underscores the importance of early detection and intervention. Integrating neonatal screening with advanced sequencing methodologies is pivotal in ensuring precise diagnosis and effective management of MSUD, thereby significantly improving the prognosis for individuals afflicted with this condition.
A multi-wavelength near-infrared (NIR) diode laser absorption sensor has been developed and demonstrated for real-time monitoring of the thickness, solute concentration, and temperature of thin films ...of urea–water solutions. The sensor monitors the transmittance of three near-infrared diode lasers through the thin liquid film. Film thickness, urea mass fraction, and liquid temperature were determined from measured transmittance ratios of suitable combinations of lasers. Available laser wavelengths were selected depending on the variation of the NIR absorption spectrum of the solution with temperature and solute concentration. The spectral database was measured by a Fourier transform infrared spectrometer in the range 5500–8000 cm
−1
for urea solutions between 5 and 40 wt% and temperatures between 298 and 338 K. A prototype sensor was constructed, and the sensor concept was first validated with measurements using a calibration cell providing liquid layers of variable thickness (200–1500 µm), urea mass fraction (5–40 wt%) and temperature (298–318 K). Temporal variations of film thickness and urea concentration were captured during the constant-temperature evaporation of a liquid film deposited on an optically polished heated quartz flat.
IntroductionTDuring COVID-19 pandemic, it was noticed that it was students who were mostly affected by the changes that aroused because of the pandemic. The interesting part is whether students’ ...well-being could be associated with their fields of study as well as coping strategies.ObjectivesIn this study, we aimed to assess 1) the mental health of students from nine countries with a particular focus on depression, anxiety, and stress levels and their fields of study, 2) the major coping strategies of students after one year of the COVID-19 pandemic.MethodsWe conducted an anonymous online cross-sectional survey on 12th April – 1st June 2021 that was distributed among the students from Poland, Mexico, Egypt, India, Pakistan, China, Vietnam, Philippines, and Bangladesh. To measure the emotional distress, we used the Depression, Anxiety, and Stress Scale-21 (DASS-21), and to identify the major coping strategies of students - the Brief-COPE.ResultsWe gathered 7219 responses from students studying five major studies: medical studies (N=2821), social sciences (N=1471), technical sciences (N=891), artistic/humanistic studies (N=1094), sciences (N=942). The greatest intensity of depression (M=18.29±13.83; moderate intensity), anxiety (M=13.13±11.37; moderate intensity ), and stress (M=17.86±12.94; mild intensity) was observed among sciences students. Medical students presented the lowest intensity of all three components - depression (M=13.31±12.45; mild intensity), anxiety (M=10.37±10.57; moderate intensity), and stress (M=13.65±11.94; mild intensity). Students of all fields primarily used acceptance and self-distraction as their coping mechanisms, while the least commonly used were self-blame, denial, and substance use. The group of coping mechanisms the most frequently used was ‘emotional focus’. Medical students statistically less often used avoidant coping strategies compared to other fields of study. Substance use was only one coping mechanism that did not statistically differ between students of different fields of study. Behavioral disengagement presented the highest correlation with depression (r=0.54), anxiety (r=0.48), and stress (r=0.47) while religion presented the lowest positive correlation with depression (r=0.07), anxiety (r=0.14), and stress (r=0.11).Conclusions1) The greatest intensity of depression, anxiety, and stress was observed among sciences students, while the lowest intensity of those components was found among students studying medicine.2) Not using avoidant coping strategies might be associated with lower intensity of all DASS components among students.3) Behavioral disengagement might be strongly associated with greater intensity of depression, anxiety, and stress among students.4) There was no coping mechanism that provided the alleviation of emotional distress in all the fields of studies of students.Disclosure of InterestNone Declared
Introduction & Aims
Haemophilic arthropathy (HA) is a major complication in patients with haemophilia (PWH), but the study of age‐specific prevalence and severity of HA is very limited in Asian ...countries.
Materials & Methods
This study retrospectively reviewed 146 severe‐ and moderate‐type Taiwanese PWH aged 4–73 years, with roentgenograms of elbows, knees and ankles and calculated Pettersson scores.
Results
The prevalence of HA, mean number of HAs per patient and mean Pettersson scores of all the joints were 42.8%, 1.3 and 1.9 points in PWH aged 4–10 years; 64.3%, 1.4 and 4.1 points in PWH aged 11–19 years; 97.1%, 2.9 and 15.6 points in PWH aged 20–29 years; 93.1%, 4.4 and 33.1 points in PWH aged 30–39 years; 100%, 5.1 and 46.1 points in PWH aged 40–49 years and 100%, 5 and 49.6 points in PWH aged ≥50 years, respectively. There was a high prevalence of HA for PWH aged ≥20 years. Among PWH aged <20 years, prevalence of HA was low and mild ankle arthropathy was the most common. Besides, in the four age groups aged <40 years, the prevalence of ankle arthropathy was the highest, followed by elbow arthropathy and then knee arthropathy.
Conclusions
Although severe arthropathy of the six major joints was rare in PWH aged <30 years, it increased rapidly in PWH after 30 years. Analysis of clinical correlates suggested that age, severity of haemophilia, absence of prophylaxis and presence of HCV infection correlated positively with Pettersson scores.
Data from clinical trials of human papillomavirus (HPV) vaccines showed that women naïve (negative for both type-specific antibodies and DNA) to vaccine types would derive benefit from vaccination; ...therefore, an understanding of the proportion of naïve women in different age groups is important for developing HPV vaccination strategies.
From November 2012 to April 2013, a total of 7372 healthy women aged 18–45 years were recruited in five provinces in China. Cervical specimens and serum samples were collected for each woman at entry. Cervical specimens were first tested by the HPV DNA enzyme immunoassay method; if positive, the specimens were then tested by reverse hybridization line probe assay and HPV-16 and HPV-18 specific polymerase chain reactions. Neutralizing antibodies against HPV-16 or HPV-18 were tested with a pseudovirion-based neutralization assay.
The overall prevalence of high-risk HPV DNA was 14.8% (1088/7367, 95% CI 14.0–15.6), and the seroprevalence of neutralizing antibodies against HPV-16 and HPV-18 was 12.6% (925/7367) and 4.9% (364/7367), respectively. In younger women (18–26 years) and middle-aged women (27–45 years), 83.8% (3116/3719) and 81.4% (2968/3648) were naïve to both HPV-16 and HPV-18 (both neutralizing antibodies and DNA were negative), respectively. In addition, 98.5% (3664/3719) and 98.0% (3575/3648) of the younger or middle-aged women were naïve to at least one HPV type (HPV-16 or HPV-18).
This study revealed that the majority of Chinese women aged 18–26 years and 27–45 years were naïve to both HPV-16 and HPV-18 and would thus derive full benefit from bivalent HPV vaccination.
The anchoring length and the pre-tightening force are the two main factors influencing the control effect of surrounding rock in bolt support. To study the influences, a theoretical analysis is made ...on the stress distribution law of the surrounding rock with different anchoring lengths and pre-tightening forces; a high pre-tightening force quantitative exerting device for high strength bolts is developed with a function of automatic anchor retreat; and four field test plans are designed and carried out with different combinations of bolt anchoring lengths and pre-tightening forces to comparatively analyze their control effect of surrounding rock. The theoretical analysis shows that as the bolt anchoring length is constant, the effective compressive stress area in the surrounding rock of the bolt non-anchoring section increases along with the increase of the pre-tightening force; a certain length of non-anchoring section is helpful to play the bolt support function, but the anchoring length should not be too short. The field test shows that increasing pre-tightening force is an effective way to improve the control effect of surrounding rock; under certain conditions, an appropriate reduction of the bolt anchoring length will not significantly weaken the control effect of surrounding rock. That verifies the theoretical analysis. The study provides some useful guidance for the selection of the parameters of the bolt support in underground engineering.
Aflatoxin contamination in peanut is a serious food safety issue to human health around the world. Finding disease resistance genes is a key strategy for genetic improvement in breeding to deal with ...this issue. We identified an Aspergillus flavus-induced NBS-LRR gene, AhRAF4, using a microarray-based approach. By comparison of 23 sequences from three species using phytogenetics, protein secondary structure and three-dimensional structural analyses, AhRAF4 was revealed to be derived from Arachis duranensis by recombination, and has newly evolved into a family of several members, characterised by duplications and point mutations. However, the members of the family descended from A. ipaensis were lost following tetraploidisation. AhRAF4 was slightly up-regulated by low temperature, drought, salicylic acid and ethylene, but down-regulated by methyl jasmonate. The distinct responses upon As. flavus inoculation and the differential reactions between resistant and susceptible varieties indicate that AhRAF4 might play a role in defence responses. Temporal and spatial expression and the phenotype of transformed protoplasts suggest that AhRAF4 may also be associated with pericarp development. Because tetraploid cultivated peanuts are vulnerable to many pathogens, an exploration of R-genes may provide an effective method for genetic improvement of peanut cultivars.
Abstract
To satisfy the strict requirements of dynamic pressure for air-breathing hypersonic vehicle during the initiation, a dynamic pressure control method based on the model reference sliding mode ...theory is designed. Firstly, the motion equation of the air-breathing hypersonic vehicle is built, and the dynamic pressure linearization model is established by the small perturbation method. Secondly, the control system, designed by the model reference sliding mode control theory, can quickly track the reference model. Finally, the six degrees of freedom simulation model is built and used for digital simulation. The simulation results show that the designed control system can accurately track the dynamic pressure command with great robustness.
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