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Digestive Endoscopy : Official Journal... Jul 2024As management of upper gastrointestinal malignancies improves, and with popularization of bariatric surgery, endoscopists are likely to meet patients with altered upper... (Review)
Review
As management of upper gastrointestinal malignancies improves, and with popularization of bariatric surgery, endoscopists are likely to meet patients with altered upper gastrointestinal anatomy. Short-term, the surgery can cause complications like bleeding, leaks, and fistulas, and longer-term problems such as intestinal or biliary anastomotic strictures or biliary stones can arise, all necessitating endoscopy. In addition, the usual upper gastrointestinal pathologies can also still occur. These patients pose unique challenges. To proceed, understanding the new layout of the upper gastrointestinal tract is essential. The endoscopist, armed with a clear plan for navigation, can readily diagnose and manage most commonly occurring conditions, such as marginal ulcers and proximal anastomotic strictures with standard endoscopic instruments. With complex reconstructions involving long segments of small bowel, such as Roux-en-Y gastric bypass, utilization of balloon-assisted enteroscopy may be necessary, mandating modification of procedures such as endoscopic retrograde cholangiopancreatography. Successful endoscopic management of patients with altered anatomy will require prior planning and preparation to ensure the appropriate equipment, setting, and skill set is provided.
PubMed: 38952202
DOI: 10.1111/den.14823 -
Journal of Clinical Neurology (Seoul,... Jul 2024Multiple acyl-CoA dehydrogenase deficiency (MADD) is an inherited disorder of fatty acid oxidation that causes lipid storage myopathy (LSM). This is the first report on...
BACKGROUND AND PURPOSE
Multiple acyl-CoA dehydrogenase deficiency (MADD) is an inherited disorder of fatty acid oxidation that causes lipid storage myopathy (LSM). This is the first report on MADD that describes the phenotypic and genetic features of a Malaysian cohort.
METHODS
Among the >2,500 patients in a local muscle biopsy database, patients with LSM were identified and their genomic DNA were extracted from muscle samples and peripheral blood. All 13 exons of the electron-transfer flavoprotein dehydrogenase gene () were subsequently sequenced. Fifty controls were included to determine the prevalence of identified mutations in the normal population.
RESULTS
Fourteen (82%) of the 17 LSM patients had MADD with mutations. Twelve (86%) were Chinese and two were Malay sisters. Other unrelated patients reported that they had no relevant family history. Nine (64%) were females. The median age at onset was 18.5 years (interquartile range=16-37 years). All 14 demonstrated proximal limb weakness, elevated serum creatine kinase levels, and myopathic changes in electromyography. Three patients experienced a metabolic crisis at their presentation. Sanger sequencing of revealed nine different variants/mutations, one of which was novel: c.998A>G (p.Y333C) in exon 9. Notably, 12 (86%) patients, including the 2 Malay sisters, carried a common c.250G>A (p.A84T) variant, consistent with the hotspot mutation reported in southern China. All of the patients responded well to riboflavin therapy.
CONCLUSIONS
Most of our Malaysian cohort with LSM had late-onset, riboflavin-responsive MADD with mutations, and they demonstrated phenotypic and genetic features similar to those of cases reported in southern China. Furthermore, we report a novel mutation and possibly the first ever MADD patients of Malay descent.
PubMed: 38951975
DOI: 10.3988/jcn.2023.0265 -
Orthopaedic Surgery Jul 2024As osteoporosis progresses, the primary compressive trabeculae (PCT) in the proximal femur remains preserved and is deemed the principal load-bearing structure that...
OBJECTIVE
As osteoporosis progresses, the primary compressive trabeculae (PCT) in the proximal femur remains preserved and is deemed the principal load-bearing structure that links the femoral head with the femoral neck. This study aims to elucidate the distribution patterns of PCT within the proximal femur in the elderly population, and to assess its implications for the development and optimization of internal fixation devices used in hip fracture surgeries.
METHODS
This is a retrospective cohort study conducted from March 2022 to April 2023. A total of 125 patients who underwent bilateral hip joint CT scans in our hospital were enrolled. CT data of the unaffected side of the hip were analyzed. Key parameters regarding the PCT distribution in the proximal femur were measured, including the femoral head's radius (R), the neck-shaft angle (NSA), the angle between the PCT-axis and the head-neck axis (α), the distance from the femoral head center to the PCT-axis (δ), and the lengths of the PCT's bottom and top boundaries (L-bottom and L-top respectively). The impact of gender differences on PCT distribution patterns was also investigated. Student's t-test or Mann-Whitney U test were used to compare continuous variables between genders. The relationship between various variables was investigated through Pearson's correlation analysis.
RESULTS
PCT was the most prominent bone structure within the femoral head. The average NSA, α, and δ were 126.85 ± 5.85°, 37.33 ± 4.23°, and 0.39 ± 1.22 mm, respectively, showing no significant gender differences (p > 0.05). Pearson's correlation analysis revealed strong correlations between α and NSA (r = -0.689, p < 0.001), and R and L-top (r = 0.623, p < 0.001), with mild correlations observed between δ and NSA (r = -0.487, p < 0.001), and R and L-bottom (r = 0.427, p < 0.001). Importantly, our study establishes a method to accurately localize PCT distribution in true anteroposterior (AP) radiographs of the hip joint, facilitating precise screw placement in proximal femur fixation procedures.
CONCLUSION
Our study provided unprecedented insights into the distribution patterns of PCT in the proximal femur of the elderly population. The distribution of PCT in the proximal femur is predominantly influenced by anatomical and geometric factors, such as NSA and femoral head size, rather than demographic factors like gender. These insights have crucial implications for the design of internal fixation devices and surgical planning, offering objective guidance for the placement of screws in hip fracture treatments.
PubMed: 38951721
DOI: 10.1111/os.14141 -
Molecular Systems Biology Jul 2024Proximity labeling (PL) via biotinylation coupled with mass spectrometry (MS) captures spatial proteomes in cells. Large-scale processing requires a workflow minimizing...
Proximity labeling (PL) via biotinylation coupled with mass spectrometry (MS) captures spatial proteomes in cells. Large-scale processing requires a workflow minimizing hands-on time and enhancing quantitative reproducibility. We introduced a scalable PL pipeline integrating automated enrichment of biotinylated proteins in a 96-well plate format. Combining this with optimized quantitative MS based on data-independent acquisition (DIA), we increased sample throughput and improved protein identification and quantification reproducibility. We applied this pipeline to delineate subcellular proteomes across various compartments. Using the 5HT serotonin receptor as a model, we studied temporal changes of proximal interaction networks induced by receptor activation. In addition, we modified the pipeline for reduced sample input to accommodate CRISPR-based gene knockout, assessing dynamics of the 5HT network in response to perturbation of selected interactors. This PL approach is universally applicable to PL proteomics using biotinylation-based PL enzymes, enhancing throughput and reproducibility of standard protocols.
PubMed: 38951684
DOI: 10.1038/s44320-024-00049-2 -
Musculoskeletal Surgery Jul 2024With the improvement in survival of patients undergoing knee reconstructive surgeries, the functional parameter became widely studied heading optimize and minimize motor...
With the improvement in survival of patients undergoing knee reconstructive surgeries, the functional parameter became widely studied heading optimize and minimize motor sequelae. In patients undergoing knee endoprosthesis, proximal tibial or distal femoral resections affect the functioning of the knee extensor mechanism, with possible repercussions on gait. Seventeen patients were selected, divided into two groups, undergoing distal femoral or proximal tibial resection, and gait analysis examination was performed. Changes in gait velocity, cadence, step length, and alterations in the support and balance phase were observed. No major statistically significant differences were found in the kinetic and kinematic parameters between the operated groups. The study corroborates that although tibial resections have a higher theoretical risk of compromising the extensor mechanism, such data were not observed in the analyzed sample.
PubMed: 38951420
DOI: 10.1007/s12306-024-00844-y -
Inflammation Jun 2024Bronchopulmonary dysplasia (BPD) is a common chronic lung disorder characterized by impaired proximal airway and bronchoalveolar development in premature births....
Bronchopulmonary dysplasia (BPD) is a common chronic lung disorder characterized by impaired proximal airway and bronchoalveolar development in premature births. Secreted phosphoprotein 1 (SPP1) is involved in lung development and lung injury events, while its role was not explored in BPD. For establishing the in vivo models of BPD, a mouse model of hyperoxia-induced lung injury was generated by exposing neonatal mice to hyperoxia for 7 days after birth. Alveolar myofibroblasts (AMYFs) were treated with hyperoxia to establish the in vitro models of BPD. Based on the scRNA-seq analysis of lungs of mice housed under normoxia or hyperoxia conditions, mouse macrophages and fibroblasts were main different cell clusters between the two groups, and differentially expressed genes in fibroblasts were screened. Further GO and KEGG enrichment analysis revealed that these differentially expressed genes were mainly enriched in the pathways related to cell proliferation, apoptosis as well as the PI3K-AKT and ERK/MAPK pathways. SPP1 was found up-regulated in the lung tissues of hyperoxia mice. We also demonstrated the up-regulation of SPP1 in the BPD patients, the mouse model of hyperoxia-induced lung injury, and hyperoxia-induced cells. SPP1 deficiency was revealed to reduce the hyperoxia-induced apoptosis, oxidative stress and inflammation and increase the viability of AMYFs. In the mouse model of hyperoxia induced lung injury, SPP1 deficiency was demonstrated to reverse the hyperoxia-induced alveolar growth disruption, oxidative stress and inflammation. Overall, SPP1 exacerbates BPD progression in vitro and in vivo by regulating oxidative stress and inflammatory response via the PI3K-AKT and ERK/MAPK pathways, which might provide novel therapeutic target for BPD therapy.
PubMed: 38951356
DOI: 10.1007/s10753-024-02088-1 -
Surgical and Radiologic Anatomy : SRA Jun 2024The current study, which delves into proximal tibia morphometric parameters in a Greek sample, not only analyzes whether specific linear distance ratios are consistent...
INTRODUCTION
The current study, which delves into proximal tibia morphometric parameters in a Greek sample, not only analyzes whether specific linear distance ratios are consistent but also paves the way for a potential novel metric system for knee arthroplasty imaging studies using constant ratios. These findings could have significant implications for future enlarged research and clinical practice.
METHODS
A total of 38 dried tibiae were evaluated by two independent investigators. The following distances were measured with a digital Vernier sliding caliper: (1) the mediolateral distance of the proximal surface (A), (2) the anteroposterior distance of the proximal surface (B), (3) The longitudinal length of the bone (C), (4) the line connecting the anterior margin of the proximal surface with the highest peak of the tibia tuberosity (D), (5) the depth of the proximal margin of the medial articular facet (AF) (medial plateau) (E) and (6) the depth of the proximal margin of the lateral AF (lateral plateau) (F).
RESULTS
The A, B, C, D, E, and F mean distances were 71.3 mm, 47.4 mm, 340.2 mm, 37.1 mm, 42 mm, and 35.9 mm. Reliability analysis for each observer on all measurements revealed an interclass correlation (ICC) score of 0.975 (observer 1) and 0.971 (observer 2). The ratio A/B was 1.5, A/C was a constant 0.2, and D/C was 0.1. The ratio E/F was 1.2. The six measurements (A-F) showed excellent inter-observer reliability (all ICC values > 0.990).
CONCLUSIONS
The study established constant ratios of the studied linear distances around the proximal tibia. Considering these ratios, asymmetrical tibial components in knee arthroplasty seem to replicate the native anatomy more closely. Furthermore, the distance from the anterior margin of the proximal surface to the tibial tuberosity peak, constituting one-tenth of the longitudinal length of the tibia, shows promise as a metric system for imaging studies, especially in assessing lesions around tibial components.
PubMed: 38951185
DOI: 10.1007/s00276-024-03421-x -
Zhonghua Nei Ke Za Zhi Jul 2024To summarize the clinical, imaging, and pathological characteristics of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS) to...
To summarize the clinical, imaging, and pathological characteristics of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS) to improve the diagnosis of this rare disease. A retrospective case series was conducted to collect the clinical data and results of genetic testing, muscle biopsy, and imaging studies including computed tomography (CT), magnetic resonance imaging (MRI), and magnetic resonance spectroscopy (MRS) of 35 patients with MELAS admitted to the Nanjing Drum Tower Hospital from 2012 to 2021. Descriptive statistical analysis including mean, standard deviation, and frequency percentage were carried out. The average age of onset of the patients was 30.2±2.3 years; the prevalence of family history was 20%. The two main initial symptoms were limb weakness and convulsions. The clinical manifestations of the neuromuscular system were proximal muscle weakness and exercise intolerance. The endocrine system is the most affected outside the neuromuscular system, with diabetes being the most common condition. Among the five patients who underwent brain CT, four showed hypodense lesions and two had calcified lesions. Brain MRI in 26 patients showed that the lesions more often affected the parietal lobe, basal ganglia, temporal lobe, occipital lobe, and frontal lobe than the infratentorial areas. Twelve of these individuals exhibited different levels of brain atrophy. Among the 10 patients who underwent H-MRS, nine showed a decrease in N-acetylaspartate (NAA) levels, eight exhibited abnormal lactate elevation (Lac peaks), whereas six had both reduced NAA levels and the presence of Lac peaks. Thirty-one patients underwent genetic testing; among them, 25 were found to have the mt.3243A>G mutation, while the remaining six exhibited rare gene alterations. Muscle biopsies were performed in 21 patients, and 15 showed abnormal mitochondrial proliferation manifested by ragged red fibers and defective oxidative phosphorylation manifested by cytochrome C oxidase (COX) enzyme-deficient muscle fibers. The clinical manifestations of MELAS syndrome are variable and complex, and early atypical symptoms could be missed or misdiagnosed. A detailed clinical history, imaging MRS analysis, muscle biopsy, and genetic testing are necessary to confirm the accurate diagnosis of MELAS.
Topics: Humans; MELAS Syndrome; Retrospective Studies; Adult; Magnetic Resonance Imaging; Brain; Tomography, X-Ray Computed; Male; Female; Magnetic Resonance Spectroscopy
PubMed: 38951091
DOI: 10.3760/cma.j.cn112138-20231227-00411 -
Zhonghua Fu Chan Ke Za Zhi Jun 2024To investigate the effect of autologous platelet-rich plasma (PRP) perfusion on the levels of cytokines in uterine drainage fluid in patients with moderate to severe...
To investigate the effect of autologous platelet-rich plasma (PRP) perfusion on the levels of cytokines in uterine drainage fluid in patients with moderate to severe intrauterine adhesions (IUA) following hysteroscopic adhesiolysis. Thirty patients with moderate to severe IUA who underwent hysteroscopic adhesiolysis at Beijing Obstetrics and Gynecology Hospital, Capital Medical University from November 2020 to March 2021 were randomly divided into two groups: the PRP group (15 patients with placement of intrauterine-suitable balloons and PRP infusion) and the control group (15 patients with placement of intrauterine-suitable balloons only). For all patients, the channel switch was opened 48 hours after the surgery. The drainage fluid of the uterine cavity was collected using syringes through the proximal end of the drainage channel switch at 24 hours after the surgery and through the drainage channel directly at 48, 72, 96, and 120 hours after the surgery, and the levels of related cytokines including platelet-derived growth factor BB (PDGF-BB), vascular endothelial growth factor A (VEGF-A), insulin-like growth factor 1 (IGF-1) and transforming growth factor-β1 (TGF-β1) in the drainage fluid of the uterine cavity were evaluated, respectively. (1) The changes in volumes of uterine cavity drainage fluid: the total drainage fluid volumes of the PRP group and the control group in 120 hours after the surgery were (21.8±2.9) and (22.7±2.7) ml, respectively, and there was no statistically significant difference between the two groups (=-0.847, >0.05). No significant differences were found in the volumes of drainage fluid between the two groups at 72, 96, and 120 hours after the surgery (all >0.05). (2) Variation in cytokine levels in the uterine cavity drainage fluid: ① PDGF-BB: median PDGF-BB levels at 24 and 48 hours after the surgery in the PRP group (6.6 and 9.6 μg/L, respectively) were significantly higher than those in the control group (4.7 and 2.7 μg/L, respectively; all <0.05). There were no significant differences in PDGF-BB levels between the two groups at 72, 96, and 120 hours after the surgery (all >0.05). ② VEGF-A: median VEGF-A levels at 24 and 48 hours after the surgery in the PRP group (3.5 and 2.8 μg/L, respectively) were significantly higher than those in the control group (1.6 and 1.2 μg/L, respectively; all <0.05). There were no significant differences in VEGF-A levels between the two groups at 72, 96, and 120 hours after the surgery (all >0.05). ③ IGF-1: median IGF-1 level at 48 hours after the surgery in the PRP group was significantly higher than that in the control group (39.5 vs 8.6 μg/L, <0.05). No significant differences were found in IGF-1 levels at 24, 72, 96, and 120 hours after the surgery between the two groups (all >0.05). ④ TGF-β1: There were no significant differences in TGF-β1 levles between the two groups at 24, 48, 72, 96, and 120 hours after the surgery (all >0.05). PRP perfusion following hysteroscopic adhesiolysis may increase the levels of PDGF-BB, VEGF-A, and IGF-1 in the uterine cavity drainage fluid, which plays a beneficial role in improving wound microvascular formation, reducing adhesion reformation, and promoting endometrial regeneration and repair.
Topics: Humans; Female; Tissue Adhesions; Hysteroscopy; Platelet-Rich Plasma; Adult; Cytokines; Drainage; Uterine Diseases; Uterus; Vascular Endothelial Growth Factor A; Insulin-Like Growth Factor I; Becaplermin
PubMed: 38951079
DOI: 10.3760/cma.j.cn112141-20230811-00044 -
Hand Surgery & Rehabilitation Jun 2024The proximal regions of the brachial plexus (roots, trunks) are more susceptible to permanent damage due to stretch injuries than the distal regions (cords, terminal...
INTRODUCTION
The proximal regions of the brachial plexus (roots, trunks) are more susceptible to permanent damage due to stretch injuries than the distal regions (cords, terminal branches). A better description of brachial plexus mechanical behavior is necessary to better understand deformation mechanisms in stretch injury. The purpose of this study was to model the biomechanical behavior of each portion of the brachial plexus (roots, trunks, cords, peripheral nerves) in a cadaveric model and report differences in elastic modulus, maximum stress and maximum strain.
METHODS
Eight cadaveric plexi, divided into 47 segments according to regions of interest, underwent cyclical uniaxial tensile tests, using a BOSE® Electroforce® 3330 and INSTRON® 5969 material testing machines, to obtain the stress and strain histories of each specimen. Maximum stress, maximum strain and elastic modulus were extracted from the load-displacement and stress-strain curves. Statistical analyses used 1-way ANOVA with post-hoc Tukey HSD (Honestly Significant Difference) and Mann-Whitney tests.
RESULTS
Mean elastic modulus was 8.65 MPa for roots, 8.82 MPa for trunks, 22.44 MPa for cords, and 26.43 MPa for peripheral nerves. Differences in elastic modulus and in maximum stress were statistically significant (p < 0.001) between proximal (roots, trunks) and distal (cords, peripheral nerves) specimens.
CONCLUSIONS
Proximal structures demonstrated significantly smaller elastic modulus and maximum stress than distal structures. These data confirm the greater fragility of proximal regions of the brachial plexus.
PubMed: 38950883
DOI: 10.1016/j.hansur.2024.101747