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Abstract Objective Otitis media with effusion is common in children with cleft palates. This study aimed to investigate the link between palatal closure techniques and audiological outcomes. Methods In this retrospective‐prospective cohort study, we examined the relationship between palate repair techniques and hearing outcomes in children with cleft palates. From 2017 to 2022, 190 ears of 95 cleft patients were studied at the Cleft Lip and Palate Department of Shiraz University of Medical Sciences. Variables assessed included the surgical technique, cleft severity, auditory brainstem response (ABR) threshold, and tympanometry configuration. Results The mean ABR improved from a prepalatoplasty value of 39.51(11.62) decibels (dB) to a postpalatoplasty mean of 26.61(11.60) dB (Cohen's d: 1.12 [95% CI; 0.90–1.34]). Initially, 87.9% of the studied ears exhibited abnormal tympanometry, but this significantly decreased to 47% postsurgery (risk ratio: 4.43 [95% CI; 1.20–16.43]). When compared with Sommerlad intravelar veloplasty, the Nadjmi modified Furlow palatoplasty was associated with a notably lower mean ABR (β: −6.58 [95% CI: −10.43 to −2.73], p‐value = .001) and a reduced frequency of abnormal tympanometry (odds ratio [OR]: −1.10; 95% CI: −1.85 to −0.36, p‐value = .004). Factors like prepalatoplasty ABR, cleft palate severity, gender, and syndromic did not confound these findings. Conclusions Although the Nadjmi modified Furlow palatoplasty showed better results, our findings indicate a significant improvement in ABR and tympanometry outcomes for both techniques. Future randomized controlled trials are suggested to confirm the influence of palatal closure techniques on audiological outcomes. Level of Evidence 3b.

Abstract Background Person‐centred goal planning is increasingly being incorporated into healthcare interventions. People experiencing severe and persistent mental illnesses (SPMIs) have high levels of co‐occurring health conditions, reducing their life expectancy when compared with the general population. As medications are commonly used in the treatment of SPMIs, community pharmacists are well‐placed to support the health and wellbeing of this population. Objectives To examine pharmacists' and service users' experiences of goal planning as a component of a community pharmacy‐based health intervention for people experiencing SPMIs (PharMIbridge intervention). Methods This study utilised a qualitative exploratory approach with an interpretive description method. Semistructured interviews were undertaken with community pharmacists (n = 16) and service user participants (n = 26) who had participated in pharmacist support services for people experiencing SPMIs (PharMIbridge intervention). Results Four themes relating to goal planning were identified. First, goal planning provided purpose and motivation for participation in the intervention. Planning realistic goals was important but often challenging. Both pharmacists and service users highlighted the relational aspects of goal planning and how strong relationships supported positive behaviour change and outcomes. Finally, individualised and flexible approaches were important aspects of the intervention, ensuring goals were meaningful to service users. Conclusions The findings from this study identified positive outcomes from the inclusion of goal‐planning processes in a community pharmacy‐based health intervention. Further research regarding tools, strategies or training that could support future goal‐planning interventions in primary healthcare is needed. Patient or Public Contribution The PharMIbridge randomised controlled trial research team included lived experience members and was overseen by an expert panel that included members with a lived experience of mental illness and representatives from key organisations. The training provided to pharmacists was co‐designed and co‐delivered by the researchers and lived experience representatives, and pharmacists were supported by lived experience mentors. Service user participants were invited to participate in the interviews through a number of pathways (e.g., at the completion of the intervention, flyers). Those interested were provided with the full study participant information and provided with a $30 gift voucher at the conclusion of the interview.

Abstract Background Research and clinical practice rely heavily on caregiver‐report measures, such as the Child Behavior Checklist 1.5–5 (CBCL/1.5‐5), to gather information about early childhood behavior problems and to screen for child psychopathology. While studies have shown that demographic variables influence caregiver ratings of behavior problems, the extent to which the CBCL/1.5‐5 functions equivalently at the item level across diverse samples is unknown. Methods Item‐level data of CBCL/1.5‐5 from a large sample of young children (N = 9087) were drawn from 26 cohorts in the Environmental influences on Child Health Outcomes program. Factor analyses and the alignment method were applied to examine measurement invariance (MI) and differential item functioning (DIF) across child (age, sex, bilingual status, and neurodevelopmental disorders), and caregiver (sex, education level, household income level, depression, and language version administered) characteristics. Child race was examined in sensitivity analyses. Results Items with the most impactful DIF across child and caregiver groupings were identified for Internalizing, Externalizing, and Total Problems. The robust item sets, excluding the high DIF items, showed good reliability and high correlation with the original Internalizing and Total Problems scales, with lower reliability for Externalizing. Language version of CBCL administration, education level and sex of the caregiver respondent showed the most significant impact on MI, followed by child age. Sensitivity analyses revealed that child race has a unique impact on DIF over and above socioeconomic status. Conclusions The CBCL/1.5‐5, a caregiver‐report measure of early childhood behavior problems, showed bias across demographic groups. Robust item sets with less DIF can measure Internalizing and Total Problems equally as well as the full item sets, with slightly lower reliability for Externalizing, and can be crosswalked to the metric of the full item set, enabling calculation of normed T scores based on more robust item sets.

Abstract Introduction Research driven by real‐world clinical data is increasingly vital to enabling learning health systems, but integrating such data from across disparate health systems is challenging. As part of the NCATS National COVID Cohort Collaborative (N3C), the N3C Data Enclave was established as a centralized repository of deidentified and harmonized COVID‐19 patient data from institutions across the US. However, making this data most useful for research requires linking it with information such as mortality data, images, and viral variants. The objective of this project was to establish privacy‐preserving record linkage (PPRL) methods to ensure that patient‐level EHR data remains secure and private when governance‐approved linkages with other datasets occur. Methods Separate agreements and approval processes govern N3C data contribution and data access. The Linkage Honest Broker (LHB), an independent neutral party (the Regenstrief Institute), ensures data linkages are robust and secure by adding an extra layer of separation between protected health information and clinical data. The LHB's PPRL methods (including algorithms, processes, and governance) match patient records using “deidentified tokens,” which are hashed combinations of identifier fields that define a match across data repositories without using patients' clear‐text identifiers. Results These methods enable three linkage functions: Deduplication, Linking Multiple Datasets, and Cohort Discovery. To date, two external repositories have been cross‐linked. As of March 1, 2023, 43 sites have signed the LHB Agreement; 35 sites have sent tokens generated for 9 528 998 patients. In this initial cohort, the LHB identified 135 037 matches and 68 596 duplicates. Conclusion This large‐scale linkage study using deidentified datasets of varying characteristics established secure methods for protecting the privacy of N3C patient data when linked for research purposes. This technology has potential for use with registries for other diseases and conditions.

Abstract Background Body dysmorphic disorder (BDD) is a prevalent mental disorder, particularly in those seeking plastic surgery, leading to unnecessary surgeries and postsurgical dissatisfaction. Among the plastic surgeries, rhinoplasty is the most commonly sought, yet the data on prevalence of BDD among the candidates of rhinoplasty is limited. Therefore, this systematic review and meta‐analysis aimed to estimate the prevalence of BDD in rhinoplasty candidates. Methods The online libraries of Web of Science, PubMed, Cochrane Library, ProQuest, Research Square, Scopus, and Google Scholar were searched up to August 2022. Statistical analyses were performed using STATA software (v. 16). The heterogeneity was determined using the I2 statistic, and an overall estimated analysis was conducted. Subgroup analyses were performed on study year, age, gender, World Health Organization regional classification, sociodemographic index, country, sample size, and employed diagnostic tool. A meta‐regression analysis was performed to identify potential sources of heterogeneity. Results Out of 12,999 studies assessed, 18, with a combined sample size of 2132 individuals, met our criteria and were included in the study. The pooled prevalence of BDD was 32.7% (95% CI: 23.6−41.7; I2 = 96.45%). Subgroup analyses revealed the studies that were conducted in the European region (42.8%), with a sample size of ≥100 (40.2%), utilized the BDD modification of the Y‐BOCS (BDD‐YBOCS) diagnostic method (47.3%), and with a quality score of ≥6 (34.2%) demonstrated higher prevalence of BDD. The meta‐regression analysis identified a higher prevalence in the BDD‐YBOCS diagnostic method than in the BDD questionnaire (β: 0.23; 95% CI: 0.04−0.43; p = 0.022). Conclusions The prevalence of BDD is high in those seeking rhinoplasty. Clinicians should be aware of BDD symptoms to prevent unnecessary surgery and dissatisfaction. Public awareness through the media and access to affordable medical services should also be provided.

Abstract Acral melanoma (AM) is a malignant cutaneous melanocytic tumour specifically located on the palms, soles, and nail apparatus, which are areas of glabrous (hairless) skin. Acral lentiginous melanoma, a subtype of AM, represents a histopathological subtype diagnosis of cutaneous melanoma with unique morphological and structural features. Despite clear definitions, the misuse of these terms and the inconsistency in reporting the histopathological features of AM cases have become a major obstacle to the study of the disease. In this review, we discuss the epidemiology, histopathological features, prognosis, and genetic profile of AM, highlighting the differences observed when histopathological subtypes are considered. The increasing global effort to characterise AM cases from ethnically diverse populations would benefit greatly from a more consistent classification of the disease.

Abstract Chronic myelogenous leukemia is a myeloproliferative neoplasm characterized by the BCR‐ABL1 fusion gene and the development of the Philadelphia chromosome, which leads to an increase in granulocytes and bone marrow myeloid precursors in the blood, it can lead to many possible complications depending on the disease stage at the time of diagnosis. The Morel‐Lavallée lesion (MLL) is a closed traumatic soft‐tissue degloving injury, that results from the separation of the hypodermis from the underlying fascia, with resultant hemo‐lymphatic fluid collection between the tissue layers. We report a case of a 48‐year‐old male patient, with no chronic illnesses, who presented with 2 weeks history of posterior chest wall pain and swelling. Initial investigation showed a white blood cell count of 364.4 × 103/μl. Bone marrow pathology report findings were consistent with chronic myeloid leukemia (CML), and the BCR‐ABL test came positive. CT chest with contrast showed a large chest wall lesion, suggestive of a Morel‐Lavallee lesion. Ultrasound‐guided aspiration of the lesion yielded 20 mm of fluid from the thick hematoma. Histopathology of the fluid showed Necrotic debris with mixed inflammation. Patient's condition improved, and he was discharged on Dasatinib with follow‐up in hematology and surgery clinics.

Abstract Background and Aim The coronavirus‐19 is an ongoing global pandemic resulting in millions of deaths worldwide. For a patient population at higher risk of infection, telemedicine is a promising means of providing safe and alternative care routes while minimizing their risk of exposure. This study gives insight into patients' experiences and satisfaction with telemedicine during this pandemic. Methods We conducted a cross‐sectional study on 297 patients (RR: 85%) at the National Center for Cancer Care and Research (NCCCR), Qatar. Data was collected through electronic medical records of the eligibe patient population, and phone calls were made whereby the physician read a standard introductory script followed by a survey questionnaire. We focused on patients' experience with telemedicine services amid the pandemic. This was done using a six‐point Likert scoring system of seven questions that were scaled from 1 to 6. Results More than 80% of patients somewhat to strongly agreed that telemedicine met their healthcare needs, improved their confidence in their healthcare system, and were generally satisfied with the quality of care provided. Nearly all patients (90%) understood their physicians' recommendations over the phone. In addition, more than half of the patients (89%) felt they could freely communicate their concerns. Patients also showed an inclination towards face‐to‐face consultations at 68%; however, 90% were willing to participate in future teleconsultations. Conclusion Our study indicates an overall positive experience among patients towards the use of telemedicine. Telemedicine is a safe, futuristic approach toward patient care management and, thus, provides healthcare professionals a platform to implement further patient and physician education. Even though our data also showed that patients liked in‐person visits to some degree, this needs to be looked into more in future studies.

Abstract Meta‐analyses showed that non‐dipping of nocturnal blood pressure on ambulatory blood pressure monitoring (ABPM) was associated with adverse cardiovascular prognosis. However, these prognostic studies were mainly conducted in Caucasian and Japanese populations. Whether this association applies to Chinese patients remained uninvestigated. A total of 1199 Chinese patients with hypertension undergoing ABPM between January 2012 and December 2014 were recruited retrospectively from five public hypertension referral clinics in Hong Kong. Patients were followed up for a mean 6.42 years for cardiovascular morbidity and mortality and all‐cause mortality. Time to event of different dipping patterns was compared by Kaplan‐Meier curves. Hazard ratios (HR) were obtained by Cox proportional hazard models with patient demographics and confounding factors adjusted in multivariate regression. A total of 163 end point events occurred in the period. Normal dipping was observed in 446 patients (37.2%), non‐dipping in 490 (40.9%), reverse dipping in 161 (13.4%), and extreme dipping in 102 (8.5%). Kaplan‐Meier analyses showed inferior survival in non‐dippers and reverse dippers for total cardiovascular events and coronary events but not cerebrovascular events. After adjusting for confounding factors, Cox regressions showed HRs 1.166 (CI 0.770‐1.764) and 1.173 (CI 0.681‐2.021) in non‐dippers and reverse dippers for total cardiovascular events, and HRs 1.320 (CI 0.814‐2.141) and 1.476 (CI 0.783‐2.784) for coronary events. Nocturnal blood pressure non‐dipping, and to a greater extent reverse dipping, demonstrated adverse cardiovascular prognosis in a cohort of Chinese patients with hypertension in Hong Kong. Further focused studies on cerebrovascular events and reverse dippers were warranted to refine risk stratification.

Abstract Woody biomass is an important feedstock for biofuel production. Manipulation of wood properties that enable efficient conversion of biomass to biofuel reduces cost of biofuel production. Wood cell wall composition is regulated at several levels that involve expression of transcription factors such as wood‐/secondary cell wall‐associated NAC domains (WND or SND). In Arabidopsis thaliana, SND1 regulates cell wall composition through activation of its down‐stream targets such as MYBs. The functional aspects of SND1 homologs in the woody Populus have been studied through transgenic manipulation. In this study, we investigated the role of PdWND1B, Populus SND1 sequence ortholog, in wood formation using transgenic manipulation through over‐expression or silencing under the control of a vascular‐specific 4‐coumarate‐CoA ligase (4CL) promoter. As compared with control plants, PdWND1B‐RNAi plants were shorter in height, with significantly reduced stem diameter and dry biomass, whereas there were no significant differences in growth and productivity of PdWND1B over‐expression plants. Conversely, PdWND1B over‐expression lines showed a significant reduction in cellulose and increase in lignin content, whereas there was no significant impact on lignin content of downregulated lines. Stem carbohydrate composition analysis revealed a decrease in glucose, mannose, arabinose, and galactose, but an increase in xylose in the over‐expression lines. Transcriptome analysis revealed upregulation of several downstream transcription factors and secondary cell wall related structural genes in the PdWND1B over‐expression lines, partly explaining the observed phenotypic changes in cell wall chemistry. Relative to the control, glucose release efficiency and ethanol production from stem biomass was significantly reduced in over‐expression lines. Our results show that PdWND1B is an important factor determining biomass productivity, cell wall chemistry and its conversion to biofuels in Populus.

Abstract The anadromous salmon life cycle includes two migratory events, downstream smolt migration and adult homing migration, during which they must navigate with high precision. During homing migration, olfactory cues are used for navigation in coastal and freshwater areas, and studies have suggested that the parr–smolt transformation has a sensitive period for imprinting. Accordingly, we hypothesized that there would be significant changes in gene expression in the olfactory epithelium specifically related to smoltification and sampled olfactory rosettes from hatchery‐reared upper growth modal juvenile Atlantic salmon at 3‐week intervals from January to June, using lower growth modal nonsmolting siblings as controls. A suite of olfactory receptors and receptor‐specific proteins involved in functional aspects of olfaction and peripheral odor memorization was analyzed by qPCR. Gene expression in juveniles was compared with mature adult salmon of the same genetic strain caught in the river Gudenaa. All mRNAs displayed significant variation over time in both modal groups. Furthermore, five receptor genes (olfc13.1, olfc15.1, sorb, ora2, and asor1) and four olfactory‐specific genes (soig, ependymin, gst, and omp2) were differentially regulated between modal groups, suggesting altered olfactory function during smoltification. Several genes were differentially regulated in mature salmon compared with juveniles, suggesting that homing and odor recollection involve a different set of genes than during imprinting. Thyroid hormone receptors thrα and thrβ mRNAs were elevated during smolting, suggesting increased sensitivity to thyroid hormones. Treatment of presmolts with triiodothyronine in vivo and ex vivo had, however, only subtle effects on the investigated olfactory targets, questioning the hypothesis that thyroid hormones directly regulate gene expression in the olfactory epithelium.

Abstract Alpha‐mannosidosis is a rare inherited metabolic disorder (OMIM #248500) caused by mutations in the enzyme α‐mannosidase encoded by the gene MAN2B1. Patients have distinct physical and developmental features, but only limited information regarding standardized cognitive functioning of patients has been published. Here we contribute intellectual ability scores (IQ) on 12 patients with alpha‐mannosidosis (ages 8‐59 years, 10 males, 2 females). In addition, a pooled analysis was performed with data collected from this investigation and 31 cases obtained from the literature, allowing a comprehensive analysis of intellectual functioning in this rare disease. The initial and pooled analyses show that patients with alpha‐mannosidosis have variable degrees of intellectual disability but show decline in IQ with age, particularly during the first decade of life. Patients treated with hematopoietic stem cell transplantation tend to show stabilized cognitive abilities.

Abstract In plants, the phenylpropanoid pathway is responsible for the synthesis of a diverse array of secondary metabolites that include lignin monomers, flavonoids, and coumarins, many of which are essential for plant structure, biomass recalcitrance, stress defense, and nutritional quality. Our previous studies have demonstrated that Populus trichocarpa PtrEPSP‐TF, an isoform of 5‐enolpyruvylshikimate 3‐phosphate (EPSP) synthase, has transcriptional activity and regulates phenylpropanoid biosynthesis in Populus. In this study, we report the identification of single nucleotide polymorphism (SNP) of PtrEPSP‐TF that defines its functionality. Populus natural variants carrying this SNP were shown to have reduced lignin content. Here, we demonstrated that the SNP‐induced substitution of 142nd amino acid (PtrEPSP‐TFD142E) dramatically impairs the DNA‐binding and transcriptional activity of PtrEPSP‐TF. When introduced to a monocot species rice (Oryza sativa) in which an EPSP synthase isoform with the DNA‐binding helix‐turn‐helix (HTH) motif is absent, the PtrEPSP‐TF, but not PtrEPSP‐TFD142E, activated genes in the phenylpropanoid pathway. More importantly, heterologous expression of PtrEPSP‐TF uncovered five new transcriptional regulators of phenylpropanoid biosynthesis in rice. Collectively, this study identifies the key amino acid required for PtrEPSP‐TF functionality and provides a strategy to uncover new transcriptional regulators in phenylpropanoid biosynthesis.