bluuebunny/crossref_metadata_2025_split huggingface dataset:
The p.Gly2019Ser is the commonest pathogenic mutation in the LRRK2 gene among Egyptians with familial and sporadic Parkinson's disease
Authors: Salama Mohamed , William Martina , Hamed Sharifa , Shalash Ali , Khedr Eman , Yousef Mohamed , El-Jaafary Shaimaa , Fawi Gharib , Helmy Asmaa , Hamid Eman , Essam Mohamed , Lee Hamin , Jama Alina , Korayem Mohamed , Mahmoud Doaa , Elfarrash Sara , Elsaid Yasmin , Gabr Asmaa , Shebl Nourhan , Abdelwahhab Nesreen , Belal Tamer , Elsayed Nehal , El-Gamal Mohamed , Elgamal Shimaa , Ragab Salma , Mekky Jaidaa , Mohamed Lobna , Shamma Samir , Ragab Gaafar , Hussein Mohamed , Hegazy Mohamed , Houlden Henry , Rizig Mie 
Published: July 2024

Abstract

The impact of LRRK2 variants on the risk of Parkinson's disease (PD) in Egyptians remains unknown. We examined 1,210 Egyptians (611 PD patients and 599 controls) for 12 LRRK2 mutations. The p.Gly2019Ser was the only variant detected across Egypt, with a prevalence of 4.1% in sporadic cases, 6.5% in familial cases, and 0.68% in controls. Among p.Gly2019Ser carriers, all were heterozygous bar one homozygous patient, and all shared the common haplotype 1. Demographics and UPDRS scores did not differ between carriers and non-carriers, with most patients being males and developed PD in their fifties. Early-onset PD prevalence was 33% in carriers and 25% in non-carriers. Familial cases were 16% in carriers and 11% in non-carriers. This study affirms that like other North Africans and Mediterranean populations, Egyptians with PD have a notably high prevalence of the p.Gly2019Ser. LRRK2 inhibitors could be promising therapeutic options for further exploration in this population.
The Genetic Causal Association between Socio-economic Status, multiple psycho-emotional Disorders, obesity and Risk for Rotator Cuff Syndrome: A Two-sample Mendelian Randomization
Authors: jiang Yankun , Shen Yanzhu , Sun Guoyuan , Wang Weiguo , Zhang Qidong 
Published: July 2024

Abstract

Objective: Previous studies have linked socio-economic status (SES), multiple psycho-emotional disorders, and obesity to an elevated risk of rotator cuff syndrome(RCS); however, the causal relationship remains unclear. Here, Mendelian randomization (MR) to investigate the causal relationship.
Methods: We examined the correlation between SES, multiple psycho-emotional disorders, obesity, and RCS. Instrumental variables for RCS were selected from the FinnGen biobank by the MRC Integrative Epidemiology Unit at the University of Bristol (IEU) Genome-wide association studies(GWAS) database project. socio-economic status, multiple psycho-emotional disorders, and obesity genetic data came from a UK-biobank GWAS computational model study. Inverse variance weighted (IVW) MR was the primary method used. Sensitivity analysis, MR-pleiotropy residual sum, and outlier (MR-PRESSO) were used for further comparisons.
Results: Based on the IVW method, we found that genetically determined age completed full-time education[IVW odds ratio(OR) =0.466,95% confidence interval (CI)=0.276,0.786, P=0.004] was identified protective effects on RCS risk, and unfavourable effects of higher genetically predicted Job involves heavy manual or physical work(IVW OR=2.042, 95%CI=1.007,4.142 ,P=0.048 ),Tense / 'highly strung'(IVW OR=6.635, 95%CI=1.148,38.356,P=0.035 ),Body mass index (BMI)(IVW OR=1.276 , 95%CI=1.099 ,38.356,P=1.481),Waist circumference(IVW OR=1.450, 95%CI=1.247 ,1.687 ,P＜0.001 ). The rest of the results were negative.
Conclusions: This two-sample MR study provides evidence of a causal association between low level of education, heavy manual work, highly tense psychological characteristics, obesity, and increased RCS in a European population. Therefore, early screening and education in the above-mentioned population are of great significance for RCS risk management.
Investigating the effect of melatonin on serum changes of Adropin in patients with diabetic retinopathy, A randomized clinical trial
Authors: Javadzadeh Alireza , ghodraty peyman , saeedi-maleki zahra , Ghorbanihaghjo Amir , Brumandpur friborz , mousavi faride 
Published: July 2024

Abstract

Background: This study aimed to determine the effect of oral melatonin on adropin serum levels in patients with diabetic retinopathy(DR)
Methods and Design: This randomized, single-blind clinical trial involved 22 patients with DR who received additional treatment of 3 mg/day melatonin for three months (group A) and 22 age-matched patients with DR who got only the routine treatments (group B) A complete ophthalmic examination, including best corrected visual acuity (BCVA) (based on LogMAR) and slit lamp examination, was done. DR grading was based on Early Treatment Diabetic Retinopathy Study (ETDRS) guidelines. serum levels of adropin, MDA, and hs-CRP were measured and repeated after 3 months. Descriptive statistics were used to describe demographic characteristics and inferential statistics (Mann Whitney U test, Spearman's rank correlation test) were used to describe the characteristics of the population, and the statistical significance level was set at P < 0.05.
Results: Significant differences between the melatonin and control groups (both before and after the treatment) were seen with MDA (P = 0.005) and Adropin (P = 0.001), but there were no significant differences between the biochemical parameter levels. Also, there were no Significant correlations between the changes in Adropin level with biochemical parameter levels in three months.
Conclusions: In conclusion, our study suggests that using melatonin alongside routine DR treatments may increase serum adropin levels and decrease the oxidative stress and inflammatory process of diabetes for this reason we may consider a therapeutic role for melatonin in treating diabetic retinopathy.
Smoking in patients with schizophrenia: Prevalence rate and connections with cognitive functions, psychiatric symptoms, and clinical and demographic characteristics
Authors: Wu Caili , Dagg Paul , Molgat Carmen , Grishin Nataliya 
Published: July 2024

Abstract

Purpose
Many studies have shown that cigarette smoking prevalence rate is high in patients with schizophrenia. Despite the strong association between smoking and schizophrenia, findings on the relationships between smoking, psychiatric symptoms and cognitive functions remain mixed. Furthermore, the smoking rate among acute inpatients who need tertiary mental health care is still unknown. We investigated the smoking rate in this patient population. We also examined connections between smoking and cognitive functions, psychiatric symptoms, and clinical and demographic characteristics.
Methods
A retrospective chart review of patients admitted to a tertiary acute psychiatric facility over a 7-year period was conducted. Information such as patient smoking status, diagnosis, and psychiatric assessment scores, was retrieved. Independent samples t-tests and Chi-squared tests were used to compare variables between smoker and non-smoker groups.
Results
The smoking prevalence rate was 72%, approximately four times the smoking rate in the general population in Canada. Compared to the non-smoking group, the smoking group were significantly younger, more likely to be male, had less years of education, shorter illness duration, higher rate of concurrent substance use disorder, and less days of hospital stay. However, the two groups did not show differences in severity of illness, types/numbers of medication used, positive and negative symptoms, and cognitive impairment.
Conclusion
Smoking status appeared to be associated with several demographic and clinical features. Smoking did not significantly relate to patients’ illness severity, medication use, psychiatric symptoms, or cognitive functions.
RASSF1A Promoter Methylation Patterns in the Pathogenesis of Preeclampsia
Authors: Liu Qing , Li Xueyan , Zheng Yuanyuan , Ding Xin 
Published: July 2024

Abstract

In this study, we explored the epigenetic basis of preeclampsia, focusing on hypermethylation of the RASSF1A gene promoter - a topic of growing interest in the field of placental pathology and maternal health. While numerous studies have attempted to unravel the mystery of the etiology of preeclampsia, its pathogenesis remains elusive, challenging the development of precise diagnostic tools and therapeutic approaches. Our study, conducted ethically, documents a comprehensive examination of RASSF1A expression, utilizing advanced methods such as real-time PCR, immunohistochemistry, and immunofluorescence staining to quantify methylation and its functional consequences. The study revealed a profound association between RASSF1A promoter hypermethylation and clinical markers of preeclampsia, including hypertension, proteinuria, and reduced neonatal birth weight. Cell models that replicate the hypoxic conditions encountered in preeclampsia reinforced the link between hypoxia and epigenetic changes in RASSF1A, providing insights into the potential reversibility of gene silencing. This study advances the understanding of the role of RASSF1A in preeclampsia and its potential as a biomarker and epigenetic therapeutic target. Our findings encompass the clinical significance of RASSF1A hypermethylation and suggest a promising trajectory for the use of epigenetic modulation in the management of preeclampsia.
Impact of pre-pregnancy and pregnancy sleep on the risk of postpartum depression in the Japan Environment and Children’s Study
Authors: Suetsugu Yoshiko , Michikawa Takehiro , Morokuma Seiichi , Hamada Norio , Kikuchi Kimiyo , Ikeda Subaru , Shimada Yukiyo , Kato Kiyoko , Ochiai Masayuki , Tsuji Mayumi , Shimono Masayuki , Yoshino Kiyoshi , Suga Reiko , Kawamoto Toshihiro , Ohga Shouichi 
Published: July 2024

Abstract

This study aimed to determine the longitudinal effects of pre-pregnancy and pregnancy sleep on maternal depression at one month postpartum, stratified by parity. We used data from the Japan Environment and Children’s Study, a cohort study that registered 103,060 pregnancies between 2011 and 2014. A total of 76,977 women were included in this study and were asked about their sleep pre-pregnancy and during pregnancy, and whether they had postpartum depression. We found that those who slept 8–9 hours in pre-pregnancy had slightly lower odds of postpartum depression compared with those who slept 7–8 hours (odds ratio OR = 0.92, 95% confidence interval CI:0.87–0.99), and those who had bedtimes other than 9 p.m. to 3 a.m. had increased OR compared with those who had bedtimes between 9 p.m. and midnight (OR = 1.14, 95% CI:1.00–1.31). During pregnancy, those who slept less than 6 hours and whose bedtime was other than 9 p.m. to 3 a.m. had increased ORs of postpartum depression (OR = 1.21, 95% CI:1.09–1.31; OR = 1.25, 95% CI:1.08–1.45, respectively). Poor sleep quality during pre-pregnancy and pregnancy increased the odds of postpartum depression. To prevent postpartum depression, it is important for women to have good sleep from pre-pregnancy.
Influence of depression severity on interhemispheric functional integration: An analysis from the REST-meta-MDD Database
Authors: Ding Jie , Peng Junfeng , Zhang Qian 
Published: July 2024

Abstract

Major depression disorder (MDD) is a pervasive mental health disorder that significantly impairs functionality, underscoring the need for precise stratification of its severity to tailor effective treatment. This study investigates the utility of voxel-mirrored homotopic connectivity (VMHC) in resting-state fMRI data as a neuroimaging biomarker to distinguish between different severities of patients with MDD. The results revealed significant reductions in VMHC within the fusiform gyrus in cased of mild to moderate depression, and more extensive reductions across the insula, postcentral gyrus, and angular gyrus in severe depression. Interestingly, increased VMHC in the middle cingulate cortex was observed in the severe MDD patients compared to those with mild to moderate cases, and this increase showed a significant positive correlation with the symptom scores. Additionally, receiver operating characteristic (ROC) curve analysis indicated that VMHC values in these regions effectively differentiate patients from healthy controls and across severities of MDD. These findings suggest that VMHC could serve as a valuable tool for clinical diagnosis and the stratification of depression severity, providing insights into the underlying neurobiological mechanisms of the disorder.
Morphometric examination of the larynx in Turkish population
Authors: Bilgen Sevgi , Dogan Muzeyyen , Eren Bulent , Inanir Nursel Turkmen , Fedakar Recep , Erdogan Dilek 
Published: July 2024

Abstract

Purpose
The aim of this study was to measure laryngeal dimensions in a sample of Turkish cadavers including males and females of various ages and heights.
Materials and Methods
Morphological measurement was performed on 102 laryngeal specimens. Hyoid bone and laryngeal cartilages were removed from human cadavers. All dimensions of the cartilages were measured using a thread and vernier calipers. Age, sex, and height were recorded. All the parameters for male and female were compared. Statistical comparisons were made using Student's t-test and Pearson's correlation.
Results
The following measurements were significantly greater in male than in female: length of the greater horn of hyoid bone (p < 0.05) and hyoid body heights (p < 0.001), length and width of epiglottis (p < 0.001), transvers and anteroposterior diameters and anterior and posterior thicknesses of the cricoid (p < 0.01). The dimensions of male and female thyroid cartilages differed significantly (p < 0.001). Age was not significantly correlated with any parameter tested. Height showed weakly significant positive correlations with hyoid body height, epiglottis height, lateral and anteroposterior diameters of the cricoid, posterior thickness of the cricoid, thyroid superior horn length, lamina breadth and anterior height.
Conclusion
Mean measurements were significantly greater in males than in females. However, there was no significant correlations between age and any parameter examined. Weakly significant positive correlations were observed between height and hyoid bone and laryngeal cartilage measurements. This study is the first cadaver study to investigate epiglottis, cricoid and thyroid cartilage, and hyoid bone measurements in the Turkish adult population with such a large sample size.
FT3/FT4 ratio in a certain range was identified as an independent protective factor for glycemic variability in patients with type 2 diabetes
Authors: Li Ying , Pan Tianrong , Wang Lingyu , Wang Yue , Gong Yu , Wang Guojuan , Zhang Qianqian 
Published: July 2024

Abstract

Context: Thyroid hormone (TH) plays a crucial role in regulating glucose metabolism. However, the potential impact of the FT3/FT4 ratio, which reflects peripheral sensitivity to thyroid hormones, on glycemic variability in patients with type 2 diabetes (T2DM), has not been previously reported.
Objective: To investigate the correlation between the FT3/FT4 ratio and glycemic variability in individuals with T2DM.
Methods: In this retrospective analysis, a total of 468 inpatients with T2DM underwent continuous glucose monitoring (CGM) systems for a period of 6-14 days. Baseline clinical characteristics, laboratory tests, and CGM parameters were documented to investigate the correlation between FT3/FT4 ratio and CGM parameters.
Results: The levels of HBA, MG, SD, CV, LAGE, MODD and TAR2Scale were all higher in FT3/FT4Q1 compared with FT3/FT4Q2, FT3/FT4Q3 and FT3/FT4Q4 (all P<0.01). Additionally, TIR was lower in FT3/FT4Q1 compared with the other quartiles (P<0.01). Smooth curve fitting and saturation effect analysis revealed that there are curve-like relationships between the FT3/FT4 ratio and SD, MAGE, MODD and TAR2Scale. The inflection points of the fitted curves were found to be at FT3/FT4=0.279, 0.237, 0.253 and 0.282 respectively (all P<0.05). Prior to the inflection point, the FT3/FT4 ratio was negatively related to SD, MAGE, MODD and TAR2Scale (all P<0.05). Furthermore, The FT3/FT4 ratio exhibits a negative linear correlation with HBA and MG, while demonstrating a positive linear relationship with TIR (all P<0.05). Binary logistic regression demonstrated that the FT3/FT4 ratio was independently related to HBA (P=0.001), MG (P=0.01), TAR2Scale (P=0.003), LAGE (P=0.014) and MAGE (P< 001).
Conclusion:The FT3/FT4 ratio plays a crucial role in glycemic control, acting as a protective factor for minimizing glycemic fluctuation in patients with T2DM when it increases within a specific range (FT3/FT4 ≤ 0.282). This suggests that heightened sensitivity to thyroid hormones within a certain range contributes to improved glycemic control and reduced glucose fluctuation.
CHOP is insufficient for newly-diagnosed subcutaneous panniculitis-like T-cell lymphoma patients: A retrospective study of 32 patients in China
Authors: Chen Chao , Yin Jingjing , Wang Wei , Zhao Danqing , Wei Chong , Jia Congwei , Zhang Wei , Zhou Daobin , Zhang Yan 
Published: July 2024

Abstract

Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare subtype of cutaneous lymphoma, and the standard of care for SPTCL has not been well-defined. This retrospective study analyzed the efficacy of the CHOP-regimen in newly-diagnosed SPTCL patients in China. The study reviewed 32 SPTCL patients treated at Peking Union Medical College Hospital over the last two decades. The median age of these patients was 27 years. Among them, 56.3% were female. 50% patients had a PIT score ≥ 2, and 28.1% patients had concurrent hemophagocytic lymphohistiocytosis. Histopathology typically showed a lobular panniculitis with individual adipocytes surrounded by atypical lymphocytes, usually with a CD3+, CD4−, CD8+, CD56− phenotype. 28 patients (87.5%) received CHOP-like regimen as the first-line treatment. The ORR and CR rate of induction therapy were only 42.9% and 35.7%, respectively. The median PFS and OS were 3.2 months and 147.5 months. Factors, concurrent HLH and PIT ≥ 2, were indicators of shorter PFS in univariate analysis. As the largest retrospective SPTCL cohort in Asia, the result showed that CHOP-like regimen was inadequate as a first-line treatment for SPTCL, emphasizing the need for alternative therapeutic strategies.
Accuracy of cephalometric landmark and cephalometric analysis from lateral facial photograph by using CNN-based algorithm
Authors: Shimamura Yui , Tachiki Chie , Takahashi Kaisei , Matsunaga Satoru , Takaki Takashi , Hagiwara Masafumi , Nishii Yasushi 
Published: July 2024

Abstract

Cephalometric analysis is the primary diagnosis method in orthodontics. In our previous study, the algorithm was developed to estimate cephalometric landmarks from lateral facial photographs of patients with normal occlusion. This study evaluates the estimation accuracy by the algorithm trained on a dataset of 2320 patients with added malocclusion patients and the analysis values. The landmarks were estimated from the input of lateral facial photographs as training data using trained CNN-based algorithms. The success detection rate (SDR) was calculated based on the mean radial error (MRE) of the distance between the estimated and actual coordinates. Furthermore, the estimated landmarks were used to measure angles and distances as a cephalometric analysis. In the maxillary protrusion, MRE was 0.42 ± 0.15 mm, and in the mandibular protrusion, MRE was 0.46 ± 0.16 mm. We conducted a cephalometric analysis using the estimated landmarks and examined the differences with actual data. In both groups, no significant differences were observed for any of the data. Our new algorithm for estimating the landmarks from lateral facial photographs of malocclusion patients resulted in an error of less than 0.5 mm; the error in cephalometric analysis was less than 0.5°. Therefore, the algorithm can be clinically valuable.
Metabolomics-based model for early warning of acute kidney injury risk in diquat-exposed patients
Authors: Zhu Shengkai , Li Xinyu , Wu Chengzhao , Zhao Xu , Xu Shuiying , Zhao Yujing , Peng Xiaobo , Xiao Xiaohe , Niu Ming 
Published: July 2024

Abstract

Acute kidney injury (AKI) is one of the most important indications of severe clinical symptoms in patients with diquat poisoning and is closely related to poor prognosis. However, current studies have rarely focused on early warnings of diquat-related AKI, which is not conducive to the treatment of patients with early clinical diquat poisoning. In this study, untargeted plasma metabolomics was employed to reveal differences between diquat-poisoned patients with and without AKI, as well as between patients and healthy volunteers. The results showed that 48 metabolites were significantly changed in the patients, among which 3-hydroxybutyrylcarnitine, SAICAR, dodecanoic acid, and tetrahydrofolyl-[Glu](2) could be used to effectively differentiate the above three groups. Based on the ratios of the first two metabolites and the ratios of the last two metabolites, a decision tree model for the early warning of diquat-induced AKI was established with an accuracy and specificity of 88.7%. This model provides great support for accurate clinical diagnosis and intervention regarding the AKI risk of diquat-exposed patients.
Growth and Yield Attributes of Wheat (Triticum Asetivum L.) as Affected by Different Levels of Compost and Fym Under the Agroecological Conditions of District Buner
Authors: Zada Laiq , Sajjad Mohammad , Khan Abid , Khan Sher Nawab , Ayub Ashfaq , Ahmad Naseem 
Published: July 2024

Abstract

Wheat (Triticum aestivumL) a staple food crop belonging to the family poaceae plays a vital role
among cereals. For human beings and animals, it is a major source of protein and carbohydrates.
Plant nutrients are the major determinants of the productivity of any soil. Chemical fertilizers are
a ready-made source of nutrients for crops. They are less bulky and easy in transport and handle.
However, due to their high cost, growers could not afford. Organic matters not only improve soil
health, but also provide plant nutrients for sustainable crop yield. Chemical fertilizers neither
costly, but have deteriorated quality of the food. In order to reduce the gap, a pot experiment was
conducted to appraise the effect of compost and farm yard manure (FYM) on growth and yield
attributes of wheat under the agroecological conditions of District Buner” during winter, 2020.
The trial consisted of two factors: compost and FYM applied @ 0, 5, 10, 15 and 0, 10, 20 Ton ha
1 respectively. Before the start of the experiment each pot was filled with 12 Kg sieved soils.
Compost and farm yard manure (FYM) were mixed with soils before filling the pots according to
their combination. N, P and K were mixed as urea, single super phosphate (SSP) and sulphate of
potash (SOP @ 120, 90 and 60 kg ha-1. Wheat cultivars (Pirsabak-2015) were sown in pots (30
seeds each) and then thinned to nine. Pots were arranged by using CR Design with three
replications. Plant height, tillers/pot, Spike length, Grains spike-1, Biological yield, grain yield
and thousand-grain weight showed positive responses towards mix application of compost and
FYM @ 15 and 10 tons/ha as compared to control treatments. Therefore, combining the
application of compost and FYM @ 15 and 10 tons-ha-1 is recommended to get a better yield of
wheat.