Arthrogryposis, Renal dysfunction, Cholestasis (ARC) Syndrome with A Novel Mutation in two siblings

This paper studies the coverage path planning and path following problems for an underwater biomimetic robotic fish to finish the deep-sea net cage water quality monitoring. Firstly, with a focus on minimizing total path length, repetition rate, and turning occurrences to enhance path coverage efficiency and reduce energy consumption, we propose a novel coverage path planning strategy. This strategy incorporates DQN, a reward function, and a rewrite strategy inspired by RRT*. Secondly, a high-performance path-following method, which takes into account robot performance, is designed to cope with adverse conditions in net cages. Finally, the simulation and field experiments demonstrate significant improvements over existing methods and the effectiveness in practical applications, showcasing its applicability in aquaculture management. The proposed algorithm offers valuable insights into optimizing coverage path planning for underwater robots in practical scenarios.

Objective: To assess whether, in those requiring ongoing uterine stimulation after cervical ripening with oral misoprostol and membrane rupture, augmentation with low dose oral misoprostol is superior to intravenous oxytocin. Design: Open-label, superiority randomised trial Setting: Government hospitals in India Population: Women induced with oral misoprostol for hypertensive disease in pregnancy and requiring ongoing induction after membrane rupture Methods: Participants received misoprostol (25mcg orally two hourly) or titrated oxytocin through an infusion pump. Main Outcome Measure: Caesarean birth Results: 520 women were randomised and the baseline characteristics were comparable between the groups. The caesarean section rate was not reduced by the use of misoprostol (misoprostol 32.3% vs oxytocin 27.3%; adjusted odds ratio 1.226 (95% CI 0.81-1.85, p=0.33)). There were no differences in rates of hyperstimulation, fetal heart rate abnormalities, or maternal side effects, although the geometric mean time from randomisation to birth was 31 minutes longer with misoprostol. Fewer babies in the misoprostol arm were admitted to the special care unit (10 vs 21 in the oxytocin group) and there were no neonatal deaths in the misoprostol group, compared to 3 in the oxytocin arm. Women’s acceptability ratings were high in both study groups. Conclusion: Following cervical preparation with oral misoprostol and membrane rupture, the use of ongoing oral misoprostol for augmentation did not significantly reduce caesarean rates compared to oxytocin. The method, however, was safe for both mother and baby.

Background: SARS-CoV-2 infection has been associated with the increased incidence of acute macular neuroretinopathy (AMN), an infrequent ocular disorder. However, the precise mechanisms underpinning AMN in the context of SARS-CoV-2 infection (AMN-SARS-CoV-2) remain elusive. Methods: In this case-control study 14 patients diagnosed with AMN-SARS-CoV-2 between 2022/12 and 2023/3 were enrolled in this study. 14 SARS-CoV-2-infected individuals without AMN (SARS-CoV-2-no AMN) as control. 14 AMN-SARS-CoV-2 patients were compared with 14 SARS-CoV-2-no AMN. Metabolomic profiling using Ultra-High-Performance Liquid Chromatography-Online Electrospray Mass Spectrometry (UHPLC-OE-MS) revealed significant alterations in serum metabolites in AMN-SARS-CoV-2 patients. Abnormal blood clotting was observed in AMN-SARS-CoV-2 patients, and its relationship with metabolic disorders was studied. Finally, a predictive model for AMN-SARS-CoV-2 was established. Results: 76 upregulated and 42 downregulated metabolites were discovered in AMN-SARS-CoV-2. Notably, arginine metabolism within the urea cycle showed substantial changes, evidenced by variations in ornithine, citrulline, L-proline, and ADAM levels, correlating with abnormal coagulation markers like platelet crit (PCT), fibrinogen degradation products (FDP), and fibrinogen (Fbg). Additionally, increased arginase 1 (AGR1) activity within the urea cycle and reduced nitric oxide synthase (NOS) activity were observed in AMN-SARS-CoV-2. Combining these urea cycle metabolites with coagulation parameters effectively distinguished AMN-SARS-CoV-2 from SARS-CoV-2-no AMN, with an area under the curve (AUC) value of 0.96. Conclusion: The findings of the present study enhance our comprehension of the underlying metabolic mechanisms associated with AMN-SARS-CoV-2 and offer potential diagnostic markers for this uncommon ocular disorder within the context of SARS-CoV-2 infection.

IntroductionPostoperative atrioventricular block (AVB) has been reported in 1% to 6% of patients after cardiac surgery and 25% to 60% of these patients will finally need a permanent pacemaker (PPM).1-4To avoid tricuspid valve (TV) malfunction, implantation of transvenous pacing leads is generally not preferred in presence of the tricuspid bioprosthesis.5Leadless pacemakers (LLP) have recently become popular in treatment of heart blocks and bradyarrhythmia due to their proven safety and efficacy.6,7 LLPs have advantages of avoiding complications encountered with conventional transvenous pacemakers including infection, lead malfunction, and tricuspid valve regurgitation.8,9 Epicardial pacemaker is the standard recommendation in the setting of prior tricuspid valve surgery. However, prior cardiac surgeries are usually associated with significant pericardial adhesion and most surgeons prefer not to implant epicardial leads in this setting due to impaired electrical properties of pericardial leads in the setting of pericardial adhesions. Therefore, LLPs can be a safe choice for patients with TV surgeries and postoperative AVB. There is a few data about the LLP implantation in presence of the bioprosthetic TV (BTV).10-12 In this report, we described a case of Micra-VR implantation across the BTV in a patient with repaired congenital heart disease.

Unveiling the Menace of Incidental Insidious Chronic Kidney Disease due to Posterior Urethral Valve - A Case Report

Coastal dunes are the highest natural features on the beach. They protect the beach communities and low-energy environments from storms by virtue of their elevation. Their formation is a result of delicate coupling between accretional and erosional processes. Here we study the influence of vegetation on dune growth and recovery under water-driven erosion utilizing a process-based coastal model under a stochastic framework. An equivalence of this model is first established with a recently developed stochastic model of dune evolution under water-erosional stress. From the model vegetation parameters: the vegetation growth time and colonization time are quantified and their relation with characteristic dune growth times is established. Vegetation causes an initial lag in dune formation due to the colonization time. Also, the dune growth under the influence of vegetation is found to be divided into two regimes, stable and mobile. Within the stable regime, the influence of vegetation on dune recovery is quantified by the colonization time, and its competition with water-driven erosion is analyzed. This leads to the development of a phase space relating to flooding frequency, intensity, dune growth, and dune establishment times. The dune state transitions from high to barren based on the competing dune recovery time controlled by vegetation and the flooding frequency. Finally, a vulnerability indicator is obtained from the transition threshold as a minimum base elevation after an overwash required by the beach for vegetation to recover and establish dunes that overcome frequent flooding.

Meningeal metastases (LM) are a common complication of malignant tumors that progress rapidly and have a poor prognosis. Meningeal metastasis may be a combination of intracellular and extracellular factors. The linkage between the C3 signaling pathway and the EGFR ligand regulatory protein pathway may be one of the reasons why NSCLC patients with EGFR mutations are prone to brain/meningeal metastasis. Cerebrospinal fluid cytology is the gold standard for diagnosing meningeal metastases. There are various clinical treatment options, including chemotherapy, radiation therapy, immunotherapy, targeted therapy, and so on. The incidence rate of meningeal metastatic carcinoma is increasing year by year. This article reviews the research progress in pathogenesis, diagnosis and treatment of meningeal metastatic carcinoma of lung cancer.

Due to extensive poaching and habitat degradation, the Chinese pangolin (Manis pentadactyla) population had plummeted by approximately 90%, leading the International Union for Conservation of Nature (IUCN) to classify it as a Critically Endangered (CR) species. The scarcity of up-to-date data on the species’ distribution and dynamics presented a significant challenge in developing effective conservation strategies and implementing protective measures within China. This study employed on eleven widely used modeling techniques created within the BIOMOD2 framework to predict suitable habitats for the pangolin at the county scale, while examining the correlation between environmental variables and pangolin distribution. The results revealed that in Mingxi County, situated in the eastern sector of the Wuyi Mountains, the moderately suitable habitat spanned 260 km², accounting for 15% of the total area, whereas the highly suitable habitat encompassed only 49 km², constituting 3% of the total area. Within the county-managed nature reserve, the proportion of highly suitable habitats reached as high as 52%. However, nearly half of these areas, both moderately and highly suitable, remained inadequately addressed and conserved. The findings underscored the inadequacy of existing protected areas in sustaining the current pangolin population, leading to the identification of nine administrative villages that necessitated prioritized conservation efforts. The study anticipated an overall expansion in suitable habitats over the ensuing two decades, likely associated with an increase in precipitation, with significant growth projected in the eastern regions of Xiayang Township and Hufang Town. This research offered a clear and applicable research paradigm for the specific administrative level at which China operates, particularly pertinent to county-level jurisdictions with established nature reserve. In order to more precisely evaluate the pangolin’s situation at the county scale, the study underscored the paramount importance of conducting field surveys, deemed as the most urgent task at the time.

A 70-year-old man presented with regular wide QRS complex tachycardia (WCT) at a rate of 185 beats/min, characterized by left bundle branch block morphology. WCT termination was achieved through electrical cardioversion. A subsequent 12-lead electrocardiogram revealed sinus rhythm with complete right bundle branch block (CRBBB) morphology. Echocardiography showed normal left ventricular function without structural heart disease. An electrophysiological study was then conducted, followed by catheter ablation. At baseline, the atrio-His and His-ventricular intervals were normal. Fractionated ventricular potentials were observed in the para-Hisian region during sinus rhythm. Neither dual atrioventricular (AV) nodal physiology nor ventriculoatrial conduction was observed during programmed pacing. Clinical WCT was induced by ventricular extra-stimulation with concurrent AV dissociation and no visual His bundle potential, confirming the diagnosis of ventricular tachycardia (VT). Figure 1 illustrates 12-lead electrocardiograms recorded during overdrive pacing from the right ventricular apex (RVA) and right atrial septum during VT. The electroanatomical activation map revealed a distinctive focal breakout pattern with fractionated potentials originating from the para-Hisian region. In the noncoronary cusp (NCC), corresponding to the opposite side of the para-Hisian region, prolonged and fractionated ventricular potentials preceding QRS onset by 56 ms were recorded (Figure 2A). Figure 2B shows the intracardiac electrogram recorded during ventricular overdrive pacing from the NCC during VT. Based on these observations, what is the mechanisms underlying the tachycardia?

INTRODUCTIONSince its discovery by Robert Koch in 1882 (CDC, 1982), tuberculosis (TB) has and is still one of the leading causes of morbidity and mortality globally. In 2022 alone 10.6 million people were infected with TB and 1.3million died. It is the second leading infectious killer after COVID-19 (World Health Organization, 2023).Tuberculous pleuritis or pleurisy (TBP) is the second most common form of extra-pulmonary tuberculosis. It affects the pleura, in both immunocompetent and immunocomprised persons (Cohen and Light, 2015) (Nanyoshi et al. , 2022) in as high as 25% of tuberculosis(TB) cases (Porcel, 2009). TBP usually presents as a unilateral pleural effusion, although about 10% of cases are bilateral (Wang et al. , 2015).Effusions in TBP have long been postulated to be due to a delayed hypersensitivity reaction to mycobacterium antigens from raptured sub pleural caseous material; however recent advances have demonstrated a likelihood of paucibacillary bacterial infection within the pleural cavity (Morné J. Vorster, 2015).In high TB endemic areas prevalence of TBP has been shown to be higher in young people (mean age 34) (Porcel, 2009) compared to elderly population(>65years) in low endemic areas (Baumann et al. , 2007). The most common symptoms for TBP are pleuritic chest pain which precedes a non-productive cough; then fevers, night sweats, weight loss and malaise (Wang et al. , 2015).The gold standard for diagnosis of TBP is the demonstration of Mycobacterium tuberculosis  in the pleural biopsy specimens, pleural fluid or sputum (Gopi et al. , 2007); the challenges to this include scarcity of thoracoscopy services, paucibacillary nature of effusion and lack of sputum (since the cough is usually non-productive). However, presumptive diagnosis can also be achieved with reasonable certainty, by showing parietal pleura granuloma (through biopsy and histology) or elevated levels of pleural fluid adenosine deaminase (ADA) or interferon-γ, considering the clinical context of the patient (Trajman et al. , 2008).Since its discovery in 1978, adenosine deaminase(ADA) test on pleural fluid has become famous in diagnosis of TBP, more so in patients with exudative and lymphocytic pleural effusion in high TB endemic areas (Aggarwal et al. , 2019). The test is simple, affordable, rapid and minimally invasive (LIGHT, 2010). ADA levels greater or equal to 40 IU/L are associated with a sensitivity of 87.8 to 97.6% and specificity of 90.4 to 92.4 % (Huan et al. , 2021). However, in low and middle income settings the test hasn’t been embraced because of laboratory inadequacies and lack of knowledge about it, and fear of false positives, majorly malignancy, empyema, Para-pneumonic, collagen diseases, (Valdés et al. , 1993) and rheumatoid pleuritis (Hooper, Lee and Maskell, 2010).We present and discuss a case of TBP diagnosed by pleural ADA, in a 28-year-old woman who acquired symptoms during pregnancy through delivery. We also put forward the advantage and applicability of this test amidst lack of thoracoscopy services in Uganda and other low resource settings.

Aim of the study: Snoring is one of the main symptoms of obstructive sleep apnea syndrome (OSAS) patients. In this study, it was aimed to investigate whether snoring sound parameters can be used in pre- polysomnography (PSG) screening in patients with OSAS. Methods: All patients underwent full-night PSG test. Sound parameters were measured using the PRAAT acoustic analysis program. The relationship between these parameters and degree of OSAS, and also the relationship between snoring sound and types of OSAS were analyzed prospectively. Results: Seventy seven patients diagnosed OSAS were included the study. It was found that the shimmer scores decreased significantly from mild OSAS to severe OSAS (p=0.045). Although mean pitch scores increased from mild to severe OSAS, it was not found to be statistically significant (p=0.16). Mean pitch score was found to be significantly higher in the severe group (p=0.022). Shimmer scores were found significantly higher in REM-predominant OSAS patients than without REM-predominant OSAS patients (p=0.006). Shimmer scores were significantly higher in obese patients than in non-obese patients and in patients over 40 years of age years than under 40 years of age (p=0.032; p<0.01; respectively). The ROC analysis was performed to determine the cutoff value of mean Pitch (≥74.65) in predicting severe OSAS classification (AUC=0.69; p=0.017). Conclusion: Our results are important to show that, analysis of snoring sound with a noninvasive method of acoustic voice analysis, can be applied quickly and easily in the pre-PSG screening in especially clinically important advanced-stage OSAS cases that should be diagnosed urgently.

In this article, a two prey-one predator model in which prey and predator disperse simultaneously in a heterogeneous environment with n patches is proposed and analyzed. We prove that the solution of the system is positive and uniformly ultimately bounded. Meanwhile, we use the monotonic theory of spectral bounds to investigate the effect of the dispersal rate on population dynamics. To be precise, we discuss the stability behaviour for the trivial equilibrium and semitrivial equilibrium as well as the uniform persistence of the system. Furthermore, we prove the global asymptotic stability of the positive equilibrium by constructing a global Lyapunov function which applies the results from graph theory. Some numerical simulations are provided to show the effectiveness of the theoretical results.

A rare case of wheat-dependentexercise-induced anaphylaxis induced by exercise 5 hours after wheat ingestion.Tomoki Yaguchi1, Katsutoshi Nakano1, Tadayuki Kumagai1Department of Pediatrics, Yaizu City Hospital, Shizuoka, JapanCorresponding authorTomoki Yaguchi, 1000, Dobara, Yaizu-shi, Shizuoka 425-0055, Japan. Phone: +81-54-623-3111, Fax: +81-54-624-9103, E-mail: [email protected] Count for Main Text; 916The number of Table; 1, Figure; 0Keywords：wheat-dependent exercise-induced anaphylaxis, food allergy, aspirin, sensitization, anaphylaxis

Breast granular cell tumor: A report of two cases and review of literatureAssim Saad Eddin, MD1; Umar Ramzan, BS2; Su Kim Hsieh, MD, PhD1; Fabiana, Policeni, MD1University of Iowa Hospitals and Clinics, Department of Radiology, Iowa city, Iowa, United StatesNorthwestern Feinberg school of medicine, Chicago, Illinois, United StatesCorresponding author:Assim Saad Eddin, MD738 mission point road, 52245, Iowa city, Iowa, United StatesResearch ScholarDepartment of RadiologyUniversity of Iowa Hospitals and ClinicsKeywords: Radiology and ImagingWord count: 2107Key clinical message:Granular cell tumor (GCT) is a rare breast neoplasm. There are only a few reports of breast granular cell tumors in the literature. Here in, we present two cases of female patients diagnosed with this tumor and perform a review of literature on the prevalence, diagnosis, histology, treatment, and prognosis\(.\)

Due to the widespread use of engineered nanomaterials (ENMs) for soil remediation and nano-enabled sustainable agriculture, there is a growing concern regarding the behavior and fate of ENMs released into soil systems in the presence of natural root exudates (REs). Herein, we investigate the influence of REs on the fate and ecological effect of ENMs from a comprehensive perspective. We summarize the key roles reported in the literature for REs in physical changes (e.g., adsorption, dispersion/aggregation), chemical changes (e.g., oxidation/redox reactions, and dissolution), and biotransformation of ENMs, which will further determine the ecological risk of ENMs in natural soil systems. Moreover, this review highlights the potential adverse effects of ENMs on different soil organisms (e.g., bacteria, plants, and eisenia foetida) in the presence of REs. The remaining unclear mechanisms (e.g., oxidative stress and DNA damage) of ENMs toxicity at the cellular level influenced by REs are reviewed and presented. Finally, the review concludes by addressing the current knowledge gaps and challenges in this field.

The blood protein von Willebrand factor (VWF) is a large multimeric protein that, when activated, binds to blood platelets tethering them to the site of vascular injury initiating blood coagulation. This process is critical for the normal haemostatic response, but especially under inflammatory conditions it is thought to be a major player in pathological thrombus formation. For this reason, VWF has been the target for the development of anti-thrombotic therapeutics. However, it is challenging to prevent pathological thrombus formation while still allowing normal physiological blood coagulation as currently available anti-thrombotic therapeutics are known to cause unwanted bleeding in particular intracranial haemorrhage. This work explores the possibility of inhibiting VWF selectively under the inflammatory conditions present during pathological thrombus formation. In particular, the A2 domain of VWF is known to inhibit the neighboring A1 domain from binding to the platelet surface receptor GpIb α and this auto-inhibitory mechanism has been shown to be removed by oxidizing agents released during inflammation. Hence, finding drug molecules that bind at the interface between A1 and A2 only under oxidizing conditions could restore such auto-inhibitory mechanism. Here, by using a combination of computational docking, molecular dynamics simulations and free energy perturbation calculations, a ligand from the ZINC15 database was identified that binds at the A1A2 interface with the interaction being stronger under oxidizing conditions. The results provide a framework for the discovery of drug molecules that bind to a protein selectively in inflammatory conditions.

A document by Carla Rodriguez-Watson. Click on the document to view its contents.