Parental use and acceptance of an accessible, commercially available intraoral camera for teledentistry in their children.

PURPOSE: The potential of combining teledentistry and engaging parents as underutilised resources to monitor paediatric dental health was emphasised during the COVID-19 pandemic and remains underexplored. This study aims to assess parental acceptance and use of a commercially available intraoral camera (IOC) for effective remote monitoring. METHODS: 47 child-parent dyads, where the parent was the main caregiver and the child was treated under general anaesthesia for early childhood caries, were recruited. Caregivers were trained to image their child's teeth on a commercially available IOC. Subsequently, submitted images were reviewed asynchronously by dentists for image quality, presence of dislodged fillings, abscesses, cavitation, and oral hygiene. Post-surgery monitoring was performed using teledentistry at 1 and 2 months and in-person at 4 months. A modified Telehealth Usability Questionnaire (TUQ) was used to record caregiver acceptance for study procedures. RESULTS: A mean TUQ of 6.09 out of 7 was scored by caregivers. Caregiver-reported issues were limited to problems with technique and child uncooperativeness. The number of clear images during the second teledentistry review was improved compared to the first (p = 0.007). 68% of children liked having images of their teeth taken. CONCLUSION: This study supports the feasibility of using an IOC as a clinically appropriate avenue for teledentistry with a high level of caregiver-child acceptance.

The correlation between Helicobacter pylori infection and iron deficiency anemia in women.

OBJECTIVE: In recent years, Helicobacter pylori (H. pylori) has been increasingly associated with extra-digestive manifestations, including scleroderma, rheumatism, and blood system diseases. Iron deficiency anemia (IDA) is a common chronic disease worldwide, with an insidious onset, but as the disease progresses, it will eventually seriously affect the quality of life of patients. The aim of our study was to investigate the relationship between H. pylori infection, iron deficiency (ID), and IDA, and to identify potential serological markers. PATIENTS AND METHODS: We conducted a cross-sectional study of 998 individuals who had regular physical examinations at Beijing Shijitan Hospital from January 2021 to March 2022. We detected H. pylori infection by the 13C breath test, and recorded the patient's serum iron, ferritin, transferrin saturation, blood count, etc. We assessed the association between IDA and H. pylori infection and related serum markers using logistic regression and multiple linear regression. Afterward, we analyzed the correlation between sex and potential serum biomarkers. RESULTS: Among all study participants, 57.5% of patients had H. pylori and 42.5% did not have H. pylori. ID and IDA were significantly associated with H. pylori infection in women (p=0.031). This association persisted after further adjustment for sex, metabolic variables, liver function, and kidney function. Fasting blood glucose, triglycerides, and uric acid may be associated with IDA. CONCLUSIONS: In women, H. pylori infection is associated with ID and IDA. The relationship between H. pylori and IDA may be mediated by glycometabolism, lipid metabolism, and uric acid metabolism.

The current state of understanding of oncology expanded access programs in Malaysia.

INTRODUCTION: An expanded access program (EAP) is a regulatory mechanism that provides access to an investigational drug, which is not approved for use, in treating life-threatening conditions when all the standard-ofcare treatments are exhausted. MATERIALS AND METHODS: An online, anonymous, voluntary survey was conducted to assess the level of knowledge and understanding about EAPs among Malaysian oncologists using SurveyMonkey® between April 2020 and June 2020. Oncologists who had enquired about EAP in the past, were invited at random to participate in the survey. Participants who did not provide consent or failed to complete the survey were excluded. RESULTS: A total of 15 oncologists participated in the survey, from both public (46.6%) and private (46.6%) practices. Most respondents (80%) had filed between 1 to 10 EAP applications in the past 12 months. For 73.3% respondents, resources or training were not provided for EAPs from institutions. Around 53% of the respondents reported that their knowledge of EAPs and application processes including country regulations is 'good'. The majority of respondents (73.3%) reported that the educational modules on an overview of EAPs, country regulations and the EAP application process will be beneficial. Most participants received information about the existing EAPs either by reaching out to a pharmaceutical sponsor or through another health care provider and some received information about the existing EAPs through their institutions or patients/caregivers. Most of the respondents recommended that pharmaceutical companies should have readily available information related to the availability and application of EAPs for all pipeline products on their websites. DISCUSSION: EAPs are crucial treatment access pathways to provide investigational drugs to patients who have exhausted their treatment options and are not eligible for participation in clinical trials. Malaysian oncologists have a fair understanding about the EAPs and the application processes. CONCLUSION: Additional training and awareness are needed for Malaysian oncologists to upscale the utilisation of EAPs.

Polyhydramnios associated with rare genetic syndromes: two case reports.

BACKGROUND: We present two genetic causes of polyhydramnios that were challenging to diagnose due to their rarity and complexity. In view of the severe implications, we wish to highlight these rare genetic conditions when obstetricians consider differential diagnoses of polyhydramnios in the third trimester. CASE PRESENTATION: Patient 1 is a 34-year-old Asian woman who was diagnosed with polyhydramnios at 28 weeks' gestation. First trimester testing, fetal anomaly scan, and intrauterine infection screen were normal. Subsequent antenatal ultrasound scans revealed macroglossia, raising the suspicion for Beckwith-Wiedemann syndrome. Chromosomal microarray analysis revealed a female profile with no pathological copy number variants. The patient underwent amnioreduction twice in the pregnancy. The patient presented in preterm labor at 34 weeks' gestation but elected for an emergency caesarean section. Postnatally, the baby was noted to have a bell-shaped thorax, coat hanger ribs, hypotonia, abdominal distension, and facial dysmorphisms suggestive of Kagami-Ogata syndrome. Patient 2 is a 30-year-old Asian woman who was diagnosed with polyhydramnios at 30 weeks' gestation. She had a high-risk first trimester screen but declined invasive testing; non-invasive prenatal testing was low risk. Ultrasound examination revealed a macrosomic fetus with grade 1 echogenic bowels but no other abnormalities. Intrauterine infection screen was negative, and there was no sonographic evidence of fetal anemia. She had spontaneous rupture of membranes at 37 + 3 weeks but subsequently delivered by caesarean section in view of pathological cardiotocography. The baby was noted to have inspiratory stridor, hypotonia, low-set ears, and bilateral toe polysyndactyly. Further genetic testing revealed a female profile with a pathogenic variant of the GLI3 gene, confirming a diagnosis of Greig cephalopolysyndactyly syndrome. CONCLUSION: These cases illustrate the importance of considering rare genetic causes of polyhydramnios in the differential diagnosis, particularly when fetal anomalies are not apparent at the 20-week structural scan. We would like to raise awareness for these rare conditions, as a high index of suspicion enables appropriate counseling, prenatal testing, and timely referral to pediatricians and geneticists. Early identification and diagnosis allow planning of perinatal care and birth in a tertiary center managed by a multidisciplinary team.

Measurement of the

The cross section of the ^{13}C(α,n)^{16}O reaction is needed for nuclear astrophysics and applications to a precision of 10% or better, yet inconsistencies among 50 years of experimental studies currently lead to an uncertainty of ≈15%. Using a state-of-the-art neutron detection array, we have performed a high resolution differential cross section study covering a broad energy range. These measurements result in a dramatic improvement in the extrapolation of the cross section to stellar energies potentially reducing the uncertainty to ≈5% and resolving long standing discrepancies in higher energy data.

Association of Multi-Domain Factors with Cognition in the UK Biobank Study.

BACKGROUND: Dementia is a multifactorial syndrome attributable to a combination of vascular risk factors, lifestyle factors and neurodegeneration. However, little is known about the relative contribution of all these factors and their combined effects on cognition among the older population. OBJECTIVE: To examine the association of four domains of risk factors (sociodemographic, vascular risk factors, neuroimaging markers, lifestyle and psychosocial factors) with cognition in older adults. DESIGN: A cross-sectional study. SETTING: Data was obtained from a large-scale population-based study, UK Biobank study, at the first imaging visit assessment. PARTICIPANTS: Participants are citizen or permanent residents of UK, aged 60 years old and above. MEASURES: Cognitive function was assessed using the general cognitive ability score (g-factor score) derived from principal components analysis estimates of six cognitive tests. Associations with cognition were examined using multivariable linear regression for each domain and in combination. RESULTS: The study included 19,773 participants (mean age 68.5 ± 5.3 years SD, 9,726 (49%) male). Participants with lower cognitive scores (poorer cognition) were older, female, non-whites individuals, less educated and more socially deprived than participants with better cognitive scores. Participants with lower cognitive scores also tended to have higher vascular risk factors, lower brain volumes and more adverse lifestyle behaviours. The multivariable analysis found associations between adverse lifestyle and psychosocial factors with poorer cognition, i.e., being obese by measure of body fat percentage, having diabetes, higher white matter hyperintensity volume, increased sedentary screen time watching TV, being socially isolated and having depression were independently associated with poorer cognition. While larger hippocampal volume, having optimal sleep duration, adherence to a heathy diet, current and former alcohol drinking, increased wine consumption and sedentary screen time using a computer were associated with better cognition. CONCLUSION: A combination of adverse lifestyle and psychosocial factors were independently associated with poorer cognition in older adults. Findings in this study can potentially support public health communications to promote cognitive function and independence among older adults. This research has been conducted using the UK Biobank Resource under Application Number 71022.

Suction rectal biopsy (SRB) in Hirschsprung's Disease: Is a single macroscopically adequate sample sufficient?

Hirschsprung's Disease (HD) is a congenital disorder causing severe constipation in infants and children. Suction rectal biopsy (SRB) is the preferred technique for obtaining tissue samples for histopathological evaluation. In low-resource settings like Malaysia, cost-effective diagnostic approaches are necessary, making single sample SRB valuable. This study evaluates the diagnostic accuracy and sufficiency of a single macroscopically adequate sample in suction rectal biopsies for the histopathological confirmation of HD. We conducted a retrospective study of children who underwent suction rectal biopsies for the diagnosis of HD at Hospital Raja Perempuan Zainab II (HRPZII), Kota Bharu, Kelantan. A total of 68 patients were included in the study. The inadequacy rate for bedside SRB was 14%, comparable to current literature. Our study found no statistically significant association between sample inadequacy and gestational age, gender, birth weight, or weight at biopsy. Complication rates were 0%, consistent with literature reports. Calretinin staining, an additional technique, was performed in 23 biopsy episodes, with a 4.3% inadequacy rate, compared to 20% in specimens not subjected to calretinin staining. The cost of SRB almost doubled with each additional sample taken, significant in low-resource environments. In conclusion, single sample SRBs can be adequately diagnostic and cost-effective in low-resource settings, providing valuable insights for healthcare facilities in Malaysia and other developing countries. The use of adjunctive techniques such as calretinin staining may improve diagnostic accuracy while maintaining cost-effectiveness. Further prospective studies with larger sample sizes are needed to validate these findings.

Diagnosis and management of Barrett esophagus: European Society of Gastrointestinal Endoscopy (ESGE) Guideline.

MR1 : ESGE recommends the following standards for Barrett esophagus (BE) surveillance:- a minimum of 1-minute inspection time per cm of BE length during a surveillance endoscopy- photodocumentation of landmarks, the BE segment including one picture per cm of BE length, and the esophagogastric junction in retroflexed position, and any visible lesions- use of the Prague and (for visible lesions) Paris classification- collection of biopsies from all visible abnormalities (if present), followed by random four-quadrant biopsies for every 2-cm BE length.Strong recommendation, weak quality of evidence. MR2: ESGE suggests varying surveillance intervals for different BE lengths. For BE with a maximum extent of ≥ 1 cm and < 3 cm, BE surveillance should be repeated every 5 years. For BE with a maximum extent of ≥ 3 cm and < 10 cm, the interval for endoscopic surveillance should be 3 years. Patients with BE with a maximum extent of ≥ 10 cm should be referred to a BE expert center for surveillance endoscopies. For patients with an irregular Z-line/columnar-lined esophagus of < 1 cm, no routine biopsies or endoscopic surveillance are advised.Weak recommendation, low quality of evidence. MR3: ESGE suggests that, if a patient has reached 75 years of age at the time of the last surveillance endoscopy and/or the patient's life expectancy is less than 5 years, the discontinuation of further surveillance endoscopies can be considered. Weak recommendation, very low quality of evidence. MR4: ESGE recommends offering endoscopic eradication therapy using ablation to patients with BE and low grade dysplasia (LGD) on at least two separate endoscopies, both confirmed by a second experienced pathologist.Strong recommendation, high level of evidence. MR5: ESGE recommends endoscopic ablation treatment for BE with confirmed high grade dysplasia (HGD) without visible lesions, to prevent progression to invasive cancer.Strong recommendation, high level of evidence. MR6: ESGE recommends offering complete eradication of all remaining Barrett epithelium by ablation after endoscopic resection of visible abnormalities containing any degree of dysplasia or esophageal adenocarcinoma (EAC).Strong recommendation, moderate quality of evidence. MR7: ESGE recommends endoscopic resection as curative treatment for T1a Barrett's cancer with well/moderate differentiation and no signs of lymphovascular invasion.Strong recommendation, high level of evidence. MR8: ESGE suggests that low risk submucosal (T1b) EAC (i. e. submucosal invasion depth ≤ 500 µm AND no [lympho]vascular invasion AND no poor tumor differentiation) can be treated by endoscopic resection, provided that adequate follow-up with gastroscopy, endoscopic ultrasound (EUS), and computed tomography (CT)/positrion emission tomography-computed tomography (PET-CT) is performed in expert centers.Weak recommendation, low quality of evidence. MR9: ESGE suggests that submucosal (T1b) esophageal adenocarcinoma with deep submucosal invasion (tumor invasion > 500 µm into the submucosa), and/or (lympho)vascular invasion, and/or a poor tumor differentiation should be considered high risk. Complete staging and consideration of additional treatments (chemotherapy and/or radiotherapy and/or surgery) or strict endoscopic follow-up should be undertaken on an individual basis in a multidisciplinary discussion.Strong recommendation, low quality of evidence. MR10 A: ESGE recommends that the first endoscopic follow-up after successful endoscopic eradication therapy (EET) of BE is performed in an expert center.Strong recommendation, very low quality of evidence. B: ESGE recommends careful inspection of the neo-squamocolumnar junction and neo-squamous epithelium with high definition white-light endoscopy and virtual chromoendoscopy during post-EET surveillance, to detect recurrent dysplasia.Strong recommendation, very low level of evidence. C: ESGE recommends against routine four-quadrant biopsies of neo-squamous epithelium after successful EET of BE.Strong recommendation, low level of evidence. D: ESGE suggests, after successful EET, obtaining four-quadrant random biopsies just distal to a normal-appearing neo-squamocolumnar junction to detect dysplasia in the absence of visible lesions.Weak recommendation, low level of evidence. E: ESGE recommends targeted biopsies are obtained where there is a suspicion of recurrent BE in the tubular esophagus, or where there are visible lesions suspicious for dysplasia.Strong recommendation, very low level of evidence. MR11: After successful EET, ESGE recommends the following surveillance intervals:- For patients with a baseline diagnosis of HGD or EAC:at 1, 2, 3, 4, 5, 7, and 10 years after last treatment, after which surveillance may be stopped.- For patients with a baseline diagnosis of LGD:at 1, 3, and 5 years after last treatment, after which surveillance may be stopped.Strong recommendation, low quality of evidence.

[A case of metastatic breast cancer complicated by pulmonary tumor thrombotic microangiopathy].

Pulmonary tumor thrombotic microangiopathy is a malignancy-related complication with rapid progression and high mortality. To improve the understanding of the disease, early diagnosis and treatment are key to successful treatment. A 39-year-old patient with pulmonary hypertension transferred from another hospital was admitted to the First Affiliated Hospital of Guangzhou Medical University on September 26, 2021. The patient developed shortness of breath and progressive exacerbation over the past month. No pulmonary artery embolism was seen on computed tomography pulmonary angiography (CTPA) at the outside hospital where the breast cancer was diagnosed. Pulmonary tumor thrombotic microangiopathy was immediately considered on admission and oncological endocrine therapy was started. After treatment, the patient's dyspnoea improved, PET-CT showed significant tumor regression, and cardiac ultrasound showed a significant decrease in pulmonary artery pressure. The successful treatment experience of this case was summarized for reference.

Diagnosis and management of barrett esophagus: european society of gastrointestinal endoscopy (ESGE) guideline

This Guideline is an official statement of the European Society of Gastrointestinal Endoscopy (ESGE). It is an update of the previous (2017) Position Statement on the endoscopic management of Barrett esophagus.

The impact of lymph node ratio on disease recurrence in papillary thyroid microcarcinoma.

INTRODUCTION: Lymph node (LN) metastases in papillary thyroid microcarcinomas (microPTCs) are common. The lymph node ratio (LNR) has been proposed as a risk factor for recurrence in papillary thyroid cancer. However, its relevance in microPTC is undetermined. METHODS: Patients who underwent resection of their microPTC with concomitant LN clearance between 2005 and 2018 were identified. The LNR was calculated as the ratio of positive LNs to the total number of LNs. RESULTS: Data on 50 patients (36 female [72%]; median age 47 years [range: 19-84]) who underwent LN clearance (28 central [56%] vs 22 central + lateral [44%]) were analysed. Positive LNs were found in over two-thirds of the patients (n = 34; 68%). After a median follow-up of 61 months, 14 patients (28%) had developed recurrence. Positive LNs were not found to impact recurrence-free survival; extranodal extension and an LNR ≥ 0.26 were found to significantly increase the risk of recurrence on unadjusted analyses (p < 0.05). CONCLUSIONS: LN metastases are frequent among patients with microPTC. A higher LNR seems to be associated with recurrence. Additional studies are needed to further clarify these findings and to assess the possible role of LNR in treatment and surveillance.

The effect of medical education and counselling on treatment adherence and disease severity in patients with acne vulgaris: a non-randomised interventional study.

INTRODUCTION: Acne vulgaris (AV) is a common inflammatory skin disease affecting adolescents and young adults. It affects one's self-esteem and social relationship. In addition, poor adherence to treatment can cause poor treatment response and disease recurrence. This study aims to determine the effectiveness of medical education and counselling on treatment adherence and disease severity. METHODS: This is a non-randomised interventional study with age- and treatment- matched control conducted in a tertiary dermatology clinic from July 2021 to June 2022. Patients in the intervention group received a 10 min video presentation on acne, followed by treatment counselling. The adherence rate was determined objectively (pill counting and tube weighing) and subjectively (ECOB questionnaire). The disease severity was assessed using the Comprehensive Acne Severity Scale (CASS) and Global Acne Grading System (GAGS). RESULTS: A total of 100 patients completed the 12-week study. With intervention, patients have better adherence to topical medication (5% benzoyl peroxide gel: 71% vs 57.9%, p= 0.031; 0.05% tretinoin cream: 58.7% vs 45.4%, p= 0.044) at week 12. However, the intervention program did not improve adherence to oral medication. Overall, with intervention, a significantly higher percentage of improvement in disease severity was noted (47.3% vs. 39.1%, p=0.044). Nonadherence to treatment was attributed mostly to forgetfulness in 54% of the patients, followed by a busy lifestyle (41%) and little knowledge of acne (26%). CONCLUSION: Patients have significantly better adherence to topical medication with education and counselling. Better adherence to treatment leads to more remarkable disease improvement.

Investigating CT head diagnostic reference levels based on indication-based protocols - a single site study.

INTRODUCTION: This study aimed to provide clinically-relevant insights into establishing CT DRLs based on indication-based protocols in Ireland, focusing on CT head examinations performed at a neurology centre of excellence hospital. METHODS: Dose data were collected retrospectively. Typical values for six CT head indication-based protocols were established using a sample size of 50 patients for each protocol. Typical values for each protocol were set as the median of the distribution curve. Dose distributions for each protocol were calculated and compared using non-parametric median test (k-samples) to ascertain significant dose differences between the typical values. RESULTS: Most typical values pairings showed significant differences (p < 0.001) except between stroke/non-vascular brain, stroke/acute brain, and acute brain/non-vascular brain pairings. This was expected due to similar scan parameters. The typical value for stroke (3-phases angiogram) was 52% lower than the typical value for stroke. Dose levels of the male populations recorded were higher than female populations for all protocols. Statistical comparison showed significant differences for dose quantities and/or scan length between both genders in five protocols. CONCLUSION: Proposed values for DLP were up to 63% and 69% lower than the EU and Irish national DRLs respectively. Establishment of CT stroke DRLs should be based on the scan performed instead of number of scan acquisitions. Lastly, gender-based CT DRLs for specific protocols within the head region require further investigation. IMPLICATIONS FOR PRACTICE: With increasing CT examinations worldwide, radiation dose optimisation is key. The value of indication based DRLs is to enhance the required patient protection so image quality can be maintained, however with relevant DRLs for varying protocols. Establishment of CT typical values and site specific DRLs for procedures beyond the national DRLs can drive dose optimisation locally.

Fiber reinforced hydrated networks recapitulate the poroelastic mechanics of articular cartilage.

The role of poroelasticity on the functional performance of articular cartilage has been established in the scientific literature since the 1960s. Despite the extensive knowledge on this topic there remain few attempts to design for poroelasticity and to our knowledge no demonstration of an engineered poroelastic material that approaches the physiological performance. In this paper, we report on the development of an engineered material that begins to approach physiological poroelasticity. We quantify poroelasticity using the fluid load fraction, apply mixture theory to model the material system, and determine cytocompatibility using primary human mesenchymal stem cells. The design approach is based on a fiber reinforced hydrated network and uses routine fabrication methods (electrohydrodynamic deposition) and materials (poly[ɛ-caprolactone] and gelatin) to develop the engineered poroelastic material. This composite material achieved a mean peak fluid load fraction of 68%, displayed consistency with mixture theory, and demonstrated cytocompatibility. This work creates a foundation for designing poroelastic cartilage implants and developing scaffold systems to study chondrocyte mechanobiology and tissue engineering. STATEMENT OF SIGNIFICANCE: Poroelasticity drives the functional mechanics of articular cartilage (load bearing and lubrication). In this work we develop the design rationale and approach to produce a poroelastic material, known as a fiber reinforced hydrated network (FiHy™), that begins to approach the native performance of articular cartilage. This is the first engineered material system capable of exceeding isotropic linear poroelastic theory. The framework developed here enables fundamental studies of poroelasticity and the development of translational materials for cartilage repair.

Adequacy of endoscopic recognition and surveillance of gastric intestinal metaplasia and atrophic gastritis: A multicentre retrospective study in low incidence countries.

BACKGROUND: Gastric atrophy (GA) and gastric intestinal metaplasia (GIM) are precursor conditions to gastric adenocarcinoma (GAC) and should be monitored endoscopically in selected individuals. However, little is known about adherence to recommendations in clinical practice in low-risk countries. OBJECTIVE: The aim of this study was to evaluate endoscopic recognition and adequacy of surveillance for GA and GIM in countries with low GAC prevalence. METHODS: We retrospectively analysed patients diagnosed with GIM or GA in three centers in The Netherlands and UK between 2012 and 2019. Cases with GIM and/or GA diagnosis at index endoscopy were retrieved through systematic search of pathology databases using 'gastric' and 'intestinal metaplasia' or 'atrophy' keywords. Endoscopy reports were analysed to ascertain accuracy of endoscopic diagnoses. Adequacy of surveillance was assessed following histological diagnosis at the index endoscopy based on ESGE guidelines published in 2012. RESULTS: We included 396 patients with a median follow-up of 57.2 months. Mean age was 66 years and the rates of antrum-predominant versus extensive GIM were comparable (37% vs 38%). Endoscopic recognition rates were 48.5% for GA and 16.3% for GIM. Surveillance was adequately carried out in 215 of 396 patients (54.3%). CONCLUSION: In countries with a low incidence of GAC, the rate of endoscopic recognition of gastric pre-cancerous lesions and adherence to surveillance recommendation are low. Substantial improvement is required in endoscopic training and awareness of guidelines recommendation in order to optimise detection and management of pre-malignant gastric conditions.

Anatomical tilt lateral wrist X-ray - Not always 22°.

INTRODUCTION: Open Reduction and Internal Fixation (ORIF) with volar locking plates are commonly used to manage distal radial fractures. The anatomical tilt lateral (ATL) wrist X-ray is often required for evaluation of intra-articular screw penetration due to the screw position. This study aims to evaluate the correlation between the tube angulation given by performing radiographers for the ATL projection and the post-examination measurement of radial inclination (RI) on the Posterior Anterior (PA) wrist image. METHODS: A retrospective review was performed for 36 patients. A standardised method developed by Kreder et al. (1996) was used to measure the RI on the PA wrist image. All ATL images sent into Picture Archiving and Communications System (PACS) have the tube angulation applied annotated on the image. Pearson's correlation was used to analyse the co-relationship between the RI and the tube angle applied for ATL projection. RESULTS: The average angle of RI measured by the four observers was 19. Normality of 0.385 was established. A positive correlation (p = 0.792) between the RI and the tube angle applied for ATL was found. CONCLUSION: Our study found a strong positive correlation between the tube angulation applied by performing radiographers for the ATL projection and the post-examination RI measured on the PA wrist image by the independent reviewers. This suggests that radiographers can use the measured RI to apply the tube angulation when performing the ATL wrist X-ray, instead of estimating the tube angulation to be applied. IMPLICATIONS FOR PRACTICE: Using the measured RI to apply the tube angulation when performing the ATL wrist X-ray will ensure a more reliable and reproducible way that could reduce the number of repeated images and, thus, unnecessary radiation dose to patients.

Reference values for six-minute walk distance and six-minute walk work in Caucasian adults.

RATIONALE: The six-minute walk test (6MWT) is a practical and simple field-based test to assess physical capacity. Several reference equations for six-minute walking distance (6MWD, m) exist, but have a number of limitations that decrease their clinical utility. In addition, no reference equations exist for the 6MWT-derived outcome six-minute walk work (6MWORK, kg.m). OBJECTIVES: To establish new reference equations for 6MWD and 6MWORK on a 20 m course using data from the population-based Canadian Cohort Obstructive Lung Disease study. METHODS AND MEASUREMENTS: A total of 335 participants without obstructive or restrictive pulmonary function, with normal self-reported health status, normal exercise capacity, and <30 pack years cigarette smoking history were selected to create a representative sample of Canadian adults aged ≥40 years. All participants performed two 6MWTs. Reference equations were derived using multiple regression analyses. MAIN RESULTS: On average, 6MWD and 6MWORK were 541±98 m and 41.3 ± 11.2 kg.m, respectively. All outcomes were significantly greater in males than females. Sex-specific reference equations were derived from the results of 6MWD and 6MWORK with an explained variance of 24 to 35%. CONCLUSIONS: This study established reference equations for 6MWD and 6MWORK on a 20 m course in Caucasian males and females aged ≥40 years with normal pulmonary function, self-reported health status and exercise capacity. These newly derived reference equations add value to the assessment of functional capacity in clinical practice.

[Genetic diagnosis of microcephaly].

Objective: To explore the diagnostic value of chromosome karyotype analysis, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in microcephaly. Methods: A total of 9 cases of microcephaly fetuses diagnosed by prenatal ultrasound or children with microcephaly diagnosed after birth were selected from the Sixth Affiliated Hospital of Guangzhou Medical University from January 2014 to August 2022.Karyotype analysis and/or CMA were used to detect. The cases with negative karyotype analysis and CMA results were further sequenced by trio-based WES (Trio-WES). Then the coding genes contained in the pathogenic copy number variation (CNV) fragments were analyzed by gene ontology (GO) enrichment. The genes related to the development of the central nervous system contained in the pathogenic CNV and the pathogenic genes found by Trio-WES were combined for gene interaction network analysis. Results: In this study, 9 cases of microcephaly were recruited, with the time of diagnosis ranged from 23 weeks of gestation to 7 years after birth, and the head circumference of fetus or children ranged from 18.3 to 42.5 cm (-7SD to -2SD). Karyotype analysis was detected in all 9 cases and no abnormality result was found. Eight cases were detected by CMA, and one abnormal was found. Five cases were detected by Trio-WES, and two cases were detected with likely pathogenic genes. The GO enrichment analysis of the coding gene in the 4p16.3 microdeletion (pathogenic CNV) region showed that: in biological process, it was mainly concentrated in phototransduction, visible light; in terms of molecular function, it was mainly concentrated in fibroblast growth factor binding; in terms of cell components, it was mainly concentrated in rough endoplasmic reticulum. Gene interaction network analysis suggested that CDC42 gene could interact with CTBP1, HTT and ASPM gene. Conclusions: CMA could be used as a first-line detection technique for microcephaly. When the results of chromosome karyotype analysis and/or CMA are negative, Trio-WES could improve the detection rate of pathogenicity of microcephaly.

[Associations of genetic variations in pyroptosis related genes with acute adverse events in postoperative rectal cancer patients receiving concurrent chemoradiotherapy].

Objective: This study aims to investigate the associations between genetic variations of pyroptosis pathway related key genes and adverse events (AEs) of postoperative chemoradiotherapy (CRT) in patients with rectal cancer. Methods: DNA was extracted from the peripheral blood which was collected from 347 patients before CRT. Sequenom MassARRAY was used to detect the genotypes of 43 haplotype-tagging single nucleotide polymorphisms (htSNPs) in eight pyroptosis genes, including absent in melanoma 2 (AIM2), caspase-1 (CASP1), caspase-4(CASP4), caspase-5 (CASP5), caspase-11 (CASP11), gasdermin D (GSDMD), gasdermin E (GSDME) and NLR family pyrin domain containing 3 (NLRP3). The associations between 43 htSNPs and AEs were evaluated by the odd ratios (ORs) and 95% confidence intervals (CIs) by unconditional logistic regression models, adjusted for sex, age, clinical stage, tumor grade, Karnofsky performance status (KPS), surgical procedure, and tumor location. Results: Among the 347 patients with rectal cancer underwent concurrent CRT with capecitabine after surgery, a total of 101(29.1%) occurred grade ≥ 2 leukopenia. rs11226565 (OR=0.41, 95% CI: 0.21-0.79, P=0.008), rs579408(OR=1.54, 95% CI: 1.03-2.29, P=0.034) and rs543923 (OR=0.63, 95% CI: 0.41-0.98, P=0.040) were significantly associated with the occurrence of grade ≥ 2 leukopenia. One hundred and fifty-six (45.0%) had grade ≥ 2 diarrhea, two SNPs were significantly associated with the occurrence of grade ≥ diarrhea, including CASP11 rs10880868 (OR=0.55, 95% CI: 0.33-0.91, P=0.020) and GSDME rs2954558 (OR=1.52, 95% CI: 1.01-2.31, P=0.050). In addition, sixty-six cases (19.0%) developed grade ≥2 dermatitis, three SNPs that significantly associated with the risk of grade ≥2 dermatitis included GSDME rs2237314 (OR=0.36, 95% CI: 0.16-0.83, P=0.017), GSDME rs12540919 (OR=0.52, 95% CI: 0.27-0.99, P=0.045) and NLRP3 rs3806268 (OR=1.51, 95% CI: 1.03-2.22, P=0.037). There was no significant difference in the association between other genetic variations and AEs of rectal cancer patients (all P>0.05). Surgical procedure and tumor location had great impacts on the occurrence of grade ≥2 diarrhea and dermatitis (all P<0.01). Conclusion: The genetic variants of CASP4, CASP11, GSDME and NLRP3 are associated with the occurrence of AEs in patients with rectal cancer who received postoperative CRT, suggesting they may be potential genetic markers in predicting the grade of AEs to achieve individualized treatment of rectal cancer.