Types Of Abnormalities Research Articles

Magnetic resonance lymphangiography abnormalities as extracardiac biomarkers of pulmonary hypertension and functional phenotype in Fontan-Kreutzer univentricular circulation.

Lymphatic abnormalities have been documented on magnetic resonance lymphangiography in patients with functionally univentricular circulation. The aim of this study is to evaluate associations between findings on magnetic resonance lymphangiography, cardiac catheterisation and functional phenotype in patients with Fontan-Kreutzer circulation. Between January 2017 and October 2019, seven patients with Fontan-Kreutzer circulation (16.57 ± 7.10 years) were enrolled following ethical committee approval and attainment of informed consent. Clinical data, consecutive magnetic resonance imaging and cardiac catheterisation findings were reviewed. Qualitative lymphatic abnormality types were defined as: 1 - Little or none; 2 - Localised to the supraclavicular region; 3 - Extending into the mediastinum; and 4 - Extending into the lung. Pulmonary hypertension was defined as a transpulmonary gradient > 6 mmHg. Quantitative data were assessed using Mann-Whitney U tests, and p < 0.05 was considered statistically significant. Patients with lymphatic abnormalities categorised type 1 or 2 and transpulmonary gradient ≤ 6 mmHg had a normal functional phenotype, while those with type 3 or 4 and transpulmonary gradient > 6 mmHg had a failing functional phenotype. Magnetic resonance lymphangiography in patients with Fontan-Kreutzer circulation and pulmonary hypertension revealed lymphatic abnormalities types 3-4, indicative of a failing functional phenotype compared to patients without pulmonary hypertension. If validated in larger studies, these results suggest the potential utility of this extracardiac biomarker for improving risk stratification. Integration of lymphangiography and transpulmonary gradient with functional class, atrioventricular valve function, and ejection fraction allowed for the categorisation of three distinct functional phenotypes, which may be valuable for future analyses.

Dose–Response Relationship Between Serum 25(OH)D and the Risk of Abnormal Glycemic Status in Chinese Older Adults

Background/Objectives: The relationship between serum 25-hydroxyvitaminD (25(OH)D) concentration and the risk of abnormal glycemic status remains contradictory. Whether sufficient 25(OH)D plays a role in reducing the risk of diabetes and prediabetes is debatable. Its dose–response relationship and the optimal 25(OH)D threshold are not clear. This study investigated the relationship between serum 25(OH)D and the risk of abnormal glycemic status to explore the optimal cut-off value. Methods: This study included 5856 Chinese older adults aged 60 years and above from the China Adult Chronic Disease and Nutrition Survey (CACDNS 2015–2017). Serum 25(OH)D concentration was measured via an enzyme-linked immuosorbent assay. Abnormal glycemic status in the present study includes diabetes and prediabetes. Statistical methods such as a locally weighted regression and smoothing scatterplot (LOESS), restricted cubic spline regression (RCS) and binary and trend logistic regression were used to explore the dose–response relationship and the optimal 25(OH)D threshold. Results: The concentration of 25(OH)D was nonlinearly related to the levels of FPG and HbA1C in the LOESS curves. The nonlinear relation between 25(OH)D and the risk of diabetes and prediabetes was illustrated in the RCS curves and the optimal 25(OH)D threshold beneficial for diabetes was preliminarily explored to be 29.06 ng/mL, but no threshold for prediabetes was found. The dose–response results showed that for each 1 ng/mL increase in 25(OH)D, the risk of the fasting glucose type of diabetes reduced by 2.1%, the risk of the abnormal HbA1C type of diabetes reduced by 2.2% and the risk of the mixed type of diabetes reduced by 1.7%, whereas a dose–response relationship was not found for prediabetes. Conclusions: Higher serum 25(OH)D concentrations in Chinese older adults were associated with a reduced risk of glycemic abnormalities. The optimal 25(OH)D cut-off value was sufficiently beneficial if the diseased diabetes risk was 29.06 ng/mL, but no threshold was found for prediabetes.

Potential Teratogenicity Effects of Metals on Avian Embryos

Agricultural areas can provide sources of food and hiding and nesting places for wild birds. Thus, the chemical load of potentially toxic elements (Cd, Cu, Pb) due to industrial and agricultural activities can affect not only the adult birds but also the embryos developing in the egg. The toxic effects of heavy metals applied alone were investigated on chicken embryos in the early and late stages of embryonic development using injection and immersion treatment methods. On day 3 of incubation, permanent preparations were made from the embryos to study the early development stage. There were no significant differences observed in embryo deaths and developmental abnormalities in this stage. On day 19 of incubation, the number of embryonic deaths, the body weight of the embryos, and the type of developmental abnormalities were examined. The embryonic mortality was statistically higher in the groups treated with cadmium and lead in the case of the injection treatment. A significant increase in developmental disorders was observed in the copper-treated group using the immersion application. The body weight significantly decreased in the cadmium- and lead-treated group using both treatment methods. However, a significant change in the body weight in the copper-treated group was only realized due to the injection method.

Application of Whole-Exome Sequencing in the Prenatal Diagnosis of Foetuses With Central Nervous System Abnormalities.

To investigate the clinical value of whole-exome sequencing (WES) in the diagnosis of foetuses with central nervous system (CNS) abnormalities but having a normal karyotyping and chromosomal microarray result. During the period of 2016-2022, there were a total of 149 foetuses with CNS abnormalities but having negative karyotyping and chromosomal microarray analysis results; WES was performed on these foetuses and their parents. Variants were classified according to ACMG guidelines, and the association of pathogenic variants with specific types of CNS abnormalities was explored. Among these 149 foetuses, three categories of abnormalities, namely, single CNS abnormality, multiple CNS abnormalities, CNS abnormalities along with other organ system abnormalities were identified, for which the detection rate of P/LP variants is 17.4% (12/69), 28.6% (14/49) and 54.8% (17/31), respectively. WES brought about an increase of 28.9% in diagnostic yield in the prenatal evaluation of foetuses with CNS abnormalities but having negative karyotyping and chromosome array results. WES may also be of benefit for the diagnosis of foetuses with isolated CNS abnormalities, as well as for making more informed interpretations of imaging findings and for providing better genetic counselling.

Clinical application of flexible fiberoptic bronchoscopy in neonatal respiratory diseases

BackgroundRespiratory disease is a predominantly observed problem in neonates. Moreover, the application of flexible bronchoscopy in newborns is gradually increasing. This study aimed to investigate the value of bronchoscopy in neonates respiratory abnormalities and evaluate the safety of bronchoscopy application.MethodsClinical data and outcomes of 56 neonates who underwent flexible bronchoscopy were retrospectively analyzed. Correlations among indications for bronchoscopy, findings, and clinical diseases were assessed.ResultsA total of 56 neonates had a minimum weight of 1200 g at the time of bronchoscopy, while the minimum gestational age at birth was 26 + 1 weeks. A total of 22 cases (39.3%) had two or more clinical indications; the five most common indications were respiratory distress in 24 (42.9%), stridor in 22 (39.3%), pulmonary atelectasis in 10 (17.6%), feeding difficulty in 10 (17.6%), and difficult weaning from mechanical ventilation in 6 (10.7%) cases. A total of 13 types of abnormalities were detected in the respiratory tract. The most common abnormalities were laryngomalacia in 29 (59.2%), tracheobroncomalacia in 8 (16.3%), and vocal cord paralysis in 6 (12.2%) cases. Bronchoalveolar lavage was performed in 39 cases. Eight cases were diagnosed by bronchoscopy and then treated with surgery in the Thoracic Surgery/Otolaryngology Department; all of them were cured and discharged from the hospital after surgery. No serious complications, such as pneumothorax or shock, occurred in any of the children, of whom none died.ConclusionsFlexible bronchoscopy could play an important role in diagnosing and identifying respiratory disorders in neonates and be safely used with few serious complications.

Serum ferritin is a risk factor for pulmonary dysfunction in young patients with transfusion-dependent thalassemia

Research into the pulmonary function of patients with transfusion-dependent thalassemia (TDT) is limited, with existing studies presenting conflicting results. We carried out a retrospective study involving 140 patients with TDT. The mean patient age was 8.7 ± 3.2 years, with a median serum ferritin (SF) level of 3791.4 ng/ml (IQR: 2424.1–5733.3 ng/ml). Pulmonary function abnormalities were detected in 46.43 % (65 out of 140) of patients, primarily manifesting as diffusion dysfunction (26.43 %), followed by ventilatory dysfunction (5.0 %), and mixed pulmonary dysfunction (15.0 %). A serum ferritin level above 2500 ng/ml significantly correlated with the occurrence of these abnormalities(OR = 3.187, 95%CI:1.312–7.741, P = 0.010), while higher hemoglobin concentrations demonstrated a protective effect (OR = 0.966, 95%CI: 0.943–0.989, P = 0.004). Our study highlights diffusion dysfunction as the most prevalent type of pulmonary function abnormalities in TDT patients. Furthermore, it establishes a correlation between elevated serum ferritin levels and pulmonary dysfunction.

Learning co-plane attention across MRI sequences for diagnosing twelve types of knee abnormalities

Multi-sequence magnetic resonance imaging is crucial in accurately identifying knee abnormalities but requires substantial expertise from radiologists to interpret. Here, we introduce a deep learning model incorporating co-plane attention across image sequences to classify knee abnormalities. To assess the effectiveness of our model, we collected the largest multi-sequence knee magnetic resonance imaging dataset involving the most comprehensive range of abnormalities, comprising 1748 subjects and 12 types of abnormalities. Our model achieved an overall area under the receiver operating characteristic curve score of 0.812. It achieved an average accuracy of 0.78, outperforming junior radiologists (accuracy 0.65) and remains competitive with senior radiologists (accuracy 0.80). Notably, with the assistance of model output, the diagnosis accuracy of all radiologists was improved significantly (p < 0.001), elevating from 0.73 to 0.79 on average. The interpretability analysis demonstrated that the model decision-making process is consistent with the clinical knowledge, enhancing its credibility and reliability in clinical practice.

Utility of placental biomarkers and fetoplacental Dopplers in predicting likely placental pathology in early and late fetal growth restriction – A prospective study

IntroductionThe aim of this study was to evaluate the association between placental abnormalities, placental biomarkers, and fetoplacental Dopplers in a cohort of pregnancies complicated by fetal growth restriction (FGR). We also ascertained the risk of perinatal mortality, severe neurological morbidity, and severe non-neurological morbidity by type of placental abnormality. MethodsThis was a prospective cohort study. Multivariable logistic regression was used to evaluate the effect of early vs. late FGR, placental biomarkers and fetoplacental Dopplers on Maternal Vascular Malperfusion (MVM) which was the commonest placental abnormality identified. ResultsThere were 161 (53.5 %) early FGR and 140 (46.5 %) late FGR cases. MVM abnormalities were present in 154 (51.2 %), VUE in 45 (14.6 %), FVM in 16 (5.3 %), DVM in 14 (4.7 %) and CHI in 4 (1.3 %) cases. The odds of MVM were higher in early compared to late FGR cohort (OR 1.89, 95%CI 1.14, 3.14, p = 0.01). Low maternal PlGF levels <100 ng/L (OR 2.34, 95%CI 1.27,4.31, p = 0.01), high sFlt-1 level (OR 2.13, 95%CI 1.35, 3.36, p = 0.001) or elevated sFlt-1/PlGF ratio (OR 3.48, 95%CI 1.36, 8.91, p = 0.01) were all associated with MVM. Increased UA PI > 95th centile (OR 2.91, 95%CI 1.71, 4.95, p=<0.001) and mean UtA PI z-score (OR 1.74, 95%CI 1.15, 2.64, p = 0.01) were associated with higher odds of MVM. Rates of severe non-neurological morbidity were highest in the MVM, FVM, and CHI cohorts (44.8 %, 50 %, and 50 % respectively). ConclusionMVM was the commonest placental abnormality in FGR, particularly in early-onset disease. Low maternal PlGF levels, high sFlt-1 levels, elevated sFlt-1/PlGF ratio, and abnormal fetoplacental Dopplers were also significantly associated with MVM. MVM, FVM, and CHI abnormalities were associated with lower median birthweight, higher rates of preterm birth, operative birth for non-reassuring fetal status, and severe neonatal non-neurological morbidity.

Beta-thalassemia intermedia due to a complex alpha-globin rearrangement and a heterozygous beta thalassemia mutation.

The alpha-thalassaemia alleles are very frequent in the world's population. The main molecular mechanism is a large deletion with the loss of one or two alpha genes. Another type of rarer abnormality exists: the gain of alpha genes. The consequence of a gain is an overproduction of alpha-globin chains, which aggravates a beta-thalassaemia trait into an intermedia phenotype (non-transfusion-dependent thalassaemia, NTDT). Here, we report the case of a young girl referred for a beta-NTDT with a combination never described in the literature: a heterozygous beta-thalassaemia mutation associated with a copy number gain of the alpha-globin locus and -alpha 3.7 deletion on the same allele.

Amplitude-integrated electroencephalography monitoring results of hospitalized neonates in plateau areas

To investigate the amplitude-integrated electroencephalography (aEEG) monitoring results of hospitalized neonates in plateau areas. A retrospective analysis was conducted on 5 945 neonates who were admitted to the Department of Neonatology, Kunming Children's Hospital, and received aEEG monitoring from January 2020 to December 2022. According to the aEEG monitoring results, they were divided into a normal aEEG group and an abnormal aEEG group. The incidence rate of aEEG abnormalities was analyzed in neonates with various systemic diseases, as well as the manifestations of aEEG abnormalities and the consistency between aEEG abnormalities and clinical abnormalities. Among the 5 945 neonates, the aEEG abnormality rate was 19.28% (1 146/5 945), with an abnormality rate of 29.58% (906/3 063) in critically ill neonates and 8.33% (240/2 882) in non-critically ill neonates (P<0.05). The children with inherited metabolic diseases showed the highest aEEG abnormality rate of 60.77% (79/130), followed by those with central nervous system disorders [42.22% (76/180)] and preterm infants [35.53% (108/304)]. Compared with the normal aEEG group, the abnormal aEEG group had significantly lower age and gestational age, as well as a significantly lower birth weight of preterm infants (P<0.05). Among the 1 146 neonates with aEEG abnormalities, the main types of aEEG abnormalities were sleep cycle disorders in 597 neonates (52.09%), background activity abnormalities in 294 neonates (25.65%), and epileptiform activity in 255 neonates (22.25%), and there were 902 neonates (78.71%) with abnormal clinical manifestations. The sensitivity and specificity of aEEG monitoring for brain function abnormalities were 33.51% and 92.50%, respectively. In plateau areas, there is a relatively high rate of aEEG abnormalities among hospitalized neonates, particularly in critically ill neonates and those with smaller gestational ages and younger ages, suggesting a high risk of brain injury. Therefore, routine aEEG monitoring for the hospitalized neonates can help with the early detection of brain function abnormalities, the decision-making in treatment, and the formulation of brain protection strategies.

Polarization-sensitive optical coherence tomography and scleral collagen fiber orientation in osteogenesis imperfecta

Osteogenesis imperfecta (OI), a rare genetic connective tissue disorder, primarily arises from pathogenic variants affecting the production or structure of collagen type I. In addition to skeletal fragility, individuals with OI may face an increased risk of developing ophthalmic diseases. This association is believed to stem from the widespread presence of collagen type I throughout various parts of the eye. However, the precise consequences of abnormal collagen type I on different ocular tissues remain unknown. Of particular significance is the sclera, where collagen type I is abundant and crucial for maintaining the structural integrity of the eye. Recent research on healthy individuals has uncovered a unique organizational pattern of collagen fibers within the sclera, characterized by fiber arrangement in both circular and radial layers around the optic nerve head. While the precise function of this organizational pattern remains unclear, it is hypothesized to play a role in providing mechanical support to the optic nerve. The objective of this study is to investigate the impact of abnormal collagen type I on the sclera by assessing the fiber organization near the optic nerve head in individuals with OI and comparing them to healthy individuals. Collagen fiber orientation of the sclera was measured using polarization-sensitive optical coherence tomography (PS-OCT), an extension of the conventional OCT that is sensitive to materials that exhibit birefringence (axial changes in light refraction). Birefringence was quantified and used as imaging contrast to extract collagen fiber orientation as well as the thickness of the radially oriented scleral layer. Three individuals with OI, exhibiting different degrees of disease severity, were assessed and analyzed, along with seventeen healthy individuals. Mean values obtained from individuals with OI were descriptively compared to those of the healthy participant group. PS-OCT revealed a similar orientation pattern of scleral collagen fibers around the optic nerve head between OI individuals and healthy individuals. However, two OI participants exhibited reduced mean birefringence of the radially oriented scleral layer compared to the healthy participant group (OI participant 1 oculus dexter et sinister (ODS): 0.34°/μm, OI participant 2: ODS 0.26°/μm, OI participant 3: OD: 0.29°/μm, OS: 0.28°/μm, healthy participants: ODS 0.38 ± 0.05°/μm). The radially oriented scleral layer was thinner in all OI participants although within ±2 standard deviations of the mean observed in healthy individuals (OI participant 1 OD: 101 μm, OS 104 μm, OI participant 2: OD 97 μm, OS 98 μm, OI participant 3: OD: 94 μm, OS 120 μm, healthy participants: OD 122.8 ± 13.6 μm, OS 120.8 ± 15.1 μm). These findings imply abnormalities in collagen organization or composition, underscoring the necessity for additional research to comprehend the ocular phenotype in OI.

Prevalence of Dental Abnormalities, Soft Tissue Pathologies and Occlusion Disorders in Patients with High BMI: A Cross-sectional Study.

The relationship between body mass index (BMI) and oral disorders remains unclear. This study examined the prevalence and types of dental abnormalities and oral mucosal lesions among female students with obesity attending a Taif University sports centre. This non-interventional cross-sectional study enrolled female students with high BMI from a university sports facility using a convivence sampling method. The participants were divided into three BMI groups. Data were collected using an interview and by clinical oral examination. Prevalence and oral disorder types and possible mechanisms linking BMI and dental development were evaluated. Ultimately, 86 female students with obesity were analysed. The mean BMI was 42.8 kg/m2, indicating high obesity levels. A weak although statistically significant correlation was observed between age and BMI (r=0.27), indicating that older students had higher BMI. A statistically significant association was observed between BMI and dental abnormalities (p0.05). The dental abnormality prevalence increased with BMI, ranging from 37.5% to 40.7% in the ≤40 and >45 kg/m2 groups, respectively. Most participants (66.3%) had oral mucosal lesions, with the highest prevalence among participants in the 40-45 kg/m2 group (71.4%). A statistically significant relationship was observed between BMI and dental abnormalities; obesity may negatively affect oral health.

Phase I studies of davoceticept (ALPN-202), a PD-L1-dependent CD28 co-stimulator and dual PD-L1/CTLA-4 inhibitor, as monotherapy and in combination with pembrolizumab in advanced solid tumors (NEON-1 and NEON-2)

BackgroundDavoceticept (ALPN-202) is an Fc fusion of a CD80 variant immunoglobulin domain designed to mediate programmed death-ligand 1 (PD-L1)-dependent CD28 co-stimulation while inhibiting the PD-L1 and cytotoxic T-lymphocyte-associated antigen 4...

MRI Evaluation of Traumatic and Non-traumatic Pathologies of the Ankle Joint and Hindfoot: A Single-Center Observational Study.

Background Pathologies affecting the ankle joint and hindfoot can present with a variety of clinical symptoms and etiologies, necessitating accurate diagnostic tools for effective management. Magnetic resonance imaging (MRI) is a valuable imaging modality for assessing these pathologies, providing detailed visualization of bone, joint, tendon, and other soft tissue abnormalities. Objectives To evaluate MRI findings in a diverse cohort of 105 participants with pathologies affecting the ankle joint and hindfoot, focusing on the prevalence and types of bone, joint, tendon, and soft tissue abnormalities. Materials and methods A single-center observational descriptive study was conducted at Dr. D. Y. Patil Medical College and Hospital and Research Centre, Pune, India, over a period from August 2022 to July 2024, involving 105 participants (54.3% male, 45.7% female) with a mean age of 39.04 years. MRI scans were analyzed to assess the prevalence of bone, joint, tendon, and soft tissue pathologies. Clinical profiles, symptom duration, and etiological classifications were documented. Results Analysis of the results obtained from 105 (N = 105) study participants revealed that pain (94.3%, or 99 cases) was the most common symptom, followed by restricted movement (86.7%, or 91 cases), trauma history (75.2%, or 79 cases), and swelling (73.3%, or 77 cases). Traumatic causes (76.2%, or 80 cases) predominated, while inflammatory (48.3%, or 14 cases) and infective (34.5%, or 10 cases) causes were also significant. MRI findings showed marrow edema in 41.9%, or 44 cases, subchondral cysts in 22.9% (24 cases), fractures in 17.1% (18 cases), and erosions in 10.5% of participants (11 cases). Joint involvement was most frequent in the tibiotalar (76.2%, or 80 cases) and subtalar joints (58.1%, or 61 cases). Tendon pathologies included peritendonitis (55.2%, or 58 cases) and tendinosis (23.8%, or 25 cases), with the Achilles tendon being the most frequently affected (39%, or 41 cases). Ligament injuries were predominantly sprains (46.7%, or 49 cases), with less frequent partial (18.1%, or 19 cases) and complete tears (7.6%, or eight cases). Soft tissue findings included subcutaneous edema (76.2%, or 80 cases) and bursitis (24.8%, or 26 cases). Among the study participants who presented with non-traumatic pathologies, inflammatory pathologies (48.3%, or 14 cases) were the most common, followed by infective (34.5%, or 10 cases) and neoplastic (17.2%, or five cases) pathologies. Conclusion MRI effectively identifies a wide range of pathologies in the ankle and hindfoot, with marrow edema, joint effusion, and tendon pathologies being prevalent. The study underscores the utility of MRI in diagnosing and assessing various conditions in the ankle joint complex and highlights the need for accurate imaging to guide treatment decisions. Future research should focus on correlating MRI findings with clinical outcomes to enhance diagnostic accuracy and management strategies.

Prevalence of Certain Corneal Conditions and their Demographic Risk Factors; Tehran Geriatric Eye Study.

Corneal abnormalities are one of the important reasons for visual impairment. There is little evidence of the prevalence of different types of corneal abnormalities. The aim of this study was to assess the prevalence of various corneal abnormalities and identify the key risk factors associated with these abnormalities in an elderly population residing in Tehran. The Tehran Geriatric Eye Study (TGES) was conducted as a cross-sectional study, utilizing a population-based approach and employing stratified cluster random sampling. The study focused on individuals aged 60 years and above residing in Tehran. An ophthalmologist performed a slit lamp examination to evaluate the eyelid, cornea, and crystalline lens. The prevalence of posterior embryotoxon (PE), punctate epithelial defect (PED), pigment on endothelium (POE), corneal dystrophy (CDys), corneal vascularization (CV), and corneal degeneration (CDeg) were estimated to be 0.08% (95% confidence interval [CI]: 0.02 to 0.40), 8.77% (95% CI: 6.64 to 11.51), 0.57% (95% CI: 0.33 to 0.98), 0.53% (95% CI: 0.33 to 0.82), 0.95% (95% CI: 0.60 to 1.52), and 44.87% (95% CI: 41.80 to 47.98), respectively. Overall, approximately 49.08% of the participants exhibited some form of corneal abnormality in at least one eye. The multiple logistic regression model revealed that increasing age was significantly associated with PED, CV, and CD. Furthermore, illiterate participants had a significantly higher prevalence of PE. The findings of this study indicate that approximately half of the elderly population aged 60 years and above in Tehran have at least one corneal abnormality, with corneal degeneration being the most prevalent. Age was identified as the primary determinant of corneal abnormalities.

Loss of the long form of Plod2 phenocopies contractures of Bruck syndrome-osteogenesis imperfecta.

Bruck syndrome is an autosomal recessive form of osteogenesis imperfecta caused by biallelic variants in PLOD2 or FKBP10 and is characterized by joint contractures, bone fragility, short stature, and scoliosis. PLOD2 encodes LH2, which hydroxylates type I collagen telopeptide lysines, a critical step for collagen crosslinking. The Plod2 global knockout mouse model is limited by early embryonic lethality, and thus, the role of PLOD2 in skeletogenesis is not well understood. We generated a novel Plod2 mouse line modeling a variant identified in two unrelated individuals with Bruck syndrome: PLOD2 c.1559dupC, predicting a frameshift and loss of the long isoform LH2b. In the mouse, the duplication led to loss of LH2b mRNA as well as significantly reduced total LH2 protein. This model, Plod2fs/fs, survived up to E18.5 although in non-Mendelian genotype frequencies. The homozygous frameshift model recapitulated the joint contractures seen in Bruck syndrome and had indications of absent type I collagen telopeptide lysine hydroxylation in bone. Genetically labeling tendons with Scleraxis-GFP in Plod2fs/fs mice revealed the loss of extensor tendons in the forelimb by E18.5, and developmental studies showed extensor tendons developed through E14.5 but were absent starting at E16.5. Second harmonic generation showed abnormal tendon type I collagen fiber organization, suggesting structurally abnormal tendons. Characterization of the skeleton by μCT and Raman spectroscopy showed normal bone mineralization levels. This work highlights the importance of properly crosslinked type I collagen in tendon and bone, providing a promising new mouse model to further our understanding of Bruck syndrome.

Perceived greenwashing and employee green behavior: The roles of green organizational identity and self‐serving leadership

AbstractGreenwashing has become a common way in which many enterprises address expectations related to corporate social responsibility. As an abnormal and fake type of social responsibility behavior, greenwashing causes many problems, thus highlighting the importance of exploring the impact of corporate greenwashing. However, previous studies have mainly examined the impacts of greenwashing on enterprises, industry, and society, and the impact of greenwashing on individual employee behavior, which is important with regard to the sustainability of the enterprise, remains limited. The main purpose of this study is to explore how perceived greenwashing affects employee green behavior (EGB). Based on the stimulus–organism–response theory and social cognitive theory, a two‐wave survey was conducted to investigate 232 Chinese enterprise employees. The impact of perceived greenwashing on EGB was analyzed. The mediating role of green organizational identity (GOI) and the moderating role of self‐serving leadership in this context were examined. The results reveal that perceived greenwashing is negatively related to EGB. Furthermore, GOI mediates the direct relationship between perceived greenwashing and EGB. Self‐serving leadership weakens the positive relationship between GOI and EGB. This study thus develops a theoretical model of greenwashing and EGB. It also provides empirical evidence that can support attempts to promote EGB.

Contribution of chromosomal aberrations to the pathogenesis of primary and secondary amenorrhea: A study from Western Iran.

Amenorrhea is an abnormal condition characterized by the absence of menstruation in women of reproductive age. According to the World Health Organization, amenorrhea ranks as the sixth leading cause of female infertility. Approximately 2% to 5% of women of reproductive age experience amenorrhea, which can be classified as primary amenorrhea (PA) or secondary amenorrhea (SA). Several studies have named chromosomal abnormalities among the main causes of amenorrhea, though the prevalence of these abnormalities may differ across populations. The objective of this study was to ascertain the frequency and types of chromosomal abnormalities in women with amenorrhea in Kermanshah Province, Iran. This retrospective study included patients with PA and SA who underwent standard cytogenetic analysis. We also conducted a review of the literature on chromosomal abnormalities and their prevalence in SA. Among the 137 cases of PA in this study, 22% exhibited chromosomal abnormalities. Numerical changes were the most common finding (46.6%) in this group, including 45,X, mosaic, and 47,XXX karyotypes. These were followed by the 46,XY karyotype (40%). Of the 51 cases of SA that received chromosomal analysis, abnormalities were identified in only one case. Additionally, our review of the literature revealed that chromosomal aberrations are responsible for 7% of SA cases globally. In this study, we successfully characterized the cytogenetic causes of PA and SA in a substantial population from Kermanshah Province, Iran.

Post-discharge spirometry evaluation in patients recovering from moderate-to-critical COVID-19: a cross-sectional study

Understanding the prevalence of abnormal lung function and its associated factors among patients recovering from COVID-19 is crucial for enhancing post-COVID care strategies. This study primarily aimed to determine the prevalence and types of spirometry abnormalities among post-COVID-19 patients in Malaysia, with a secondary objective of identifying its associated factors. Conducted at the COVID-19 Research Clinic, Faculty of Medicine, University Technology MARA, from March 2021 to December 2022, this study included patients at least three months post-discharge from hospitals following moderate-to-critical COVID-19. Of 408 patients studied, abnormal spirometry was found in 46.8%, with 28.4% exhibiting a restrictive pattern, 17.4% showing preserved ratio impaired spirometry (PRISm), and 1.0% displaying an obstructive pattern. Factors independently associated with abnormal spirometry included consolidation on chest X-ray (OR 8.1, 95% CI 1.75–37.42, p = 0.008), underlying cardiovascular disease (OR 3.5, 95% CI 1.19–10.47, p = 0.023), ground-glass opacity on chest X-ray (OR 2.6, 95% CI 1.52–4.30, p < 0.001), and oxygen desaturation during the 6-min walk test (OR 1.9, 95% CI 1.20–3.06, p = 0.007). This study highlights that patients recovering from moderate-to-critical COVID-19 often exhibit abnormal spirometry, notably a restrictive pattern and PRISm. Routine spirometry screening for high-risk patients is recommended.

Ultrasound detection of non-atherosclerotic intima-medial abnormalities of lower limbs arteries in amateur endurance runners

BackgroundStructural changes in the lower limb’s arterial wall in amateur endurance runners are a rare incidental finding, represented just by several case reports.AimStudy the incidence of non-atherosclerotic lower limb artery wall changes in defined group of amateur endurance runners and identify relationship with the training parameters and the relevant biochemical markers.MethodsAmateur male athletes engaged in endurance running for more than 5 years were enrolled. Tibial and anterior popliteal arteries on each side were examined by ultrasound with focus on non-atherosclerotic structural wall changes: intima-medial border blurring, presence and character of non-atherosclerotic noduli. Subsequently the descriptive and correlation analysis were performed.ResultsThe study enrolled 20 amateur male endurance runners from Black Swan Triathlon Club Slovakia. The low atherosclerotic risk was represented by normal lipid levels, BMI under 30 kg/m2 and non-smokers in all participants. At least one type of structural artery wall abnormality (noduli or intima-medial border blurring) was present in 19 of 20 participants (95%). The most present was the intima-medial blurring. (80% of participants). The noduli were present in 65% of study group, in almost 40% of these, they were considered as hyperechogenic. All these affections were predominantly in popliteal artery area (65%). The vast majority has bilateral affection. We find a mild correlation between these ultrasound findings and training load represented by annual kilometers and run hours. There was no association between these changes and lipid spectrum or CRP level.ConclusionThe subclinical lower limb artery changes, represented by intima-medial border blurring and non-atherosclerotic noduli were present in almost every amateur endurance runner. Despite the underlying mechanism is not understood, the increased training load seems to be one of the responsible factors.