Understanding pathophysiology in fragile X syndrome: a comprehensive review.

Fragile X syndrome (FXS) is the leading hereditary cause of intellectual disability and the most commonly associated genetic cause of autism. Historically, research into its pathophysiology has focused predominantly on neurons; however, emerging evidence suggests involvement of additional cell types and systems. The objective of this study was to review and synthesize current evidence regarding the pathophysiology of Fragile X syndrome.

Development of land use regression, dispersion, and hybrid models for prediction of outdoor air pollution exposure in Barcelona.

Background: Air pollution is the leading environmental risk factor for health. Assessing outdoor air pollution exposure with detailed spatial and temporal variability in urban areas is crucial for evaluating its health effects.

Aim: We developed and compared Land Use Regression (LUR), dispersion (DM), and hybrid (HM) models to estimate outdoor concentrations for NO, PM, black carbon (BC), and PM (Fe, Cu, Zn) in Barcelona.

Outcomes of Robotic Transabdominal Retromuscular Repair: 3-Year Follow-up.

Background: Our study addresses the gap in ventral hernia repair literature, regarding the long-term effectiveness of robotic transabdominal retrorectus umbilical prosthetic repair (r-TARUP) for primary and incisional ventral hernias. This study aimed to report the 3-year recurrence rates and overall patient outcomes including quality of life.

Method: A retrospective review of prospective collected data analyzed 101 elective r-TARUP patients from August 2018 to January 2022.

Antiviral activity of myricetin glycosylated compounds isolated from against chikungunya virus.

The chikungunya virus (CHIKV) has produced epidemic outbreaks of significant public health impact. The clinical symptoms of this disease are fever, polyarthralgia, and skin rash, generally self-limiting, although patients may develop a chronic disabling condition or suffer lethal complications. Unfortunately, there is no specific treatment or vaccine available.

High-Flow Nasal Cannula and Standard Oxygen in Acute Hypoxemic Respiratory Failure Due to COVID-19.

Background: The evidence regarding benefits of high-flow nasal cannula (HFNC) in patients with COVID-19 is controversial. The aim of this study was to evaluate the impact of HFNC in comparison with standard oxygen therapy on the frequency of endotracheal intubation at 28 d in subjects with acute hypoxemic respiratory failure (AHRF) secondary to SARS-CoV-2 infection.

Methods: A retrospective, age- and sex-matched-paired, cohort study was conducted in subjects with moderate-to-severe AHRF.

HIV-1 Subtype Shift in the Philippines is Associated With High Transmitted Drug Resistance, High Viral Loads, and Fast Immunologic Decline.

Objectives: The Philippines has one of the fastest growing HIV epidemics in the world. A subtype shift from B to CRF01_AE may have contributed to the increase in cases. We undertook a genotyping and transmitted drug resistance (TDR) study to determine if the dominant subtype has any advantages in resistance and transmission.

Gambogic acid: Multi-gram scale isolation, stereochemical erosion toward epi-gambogic acid and biological profile.

Introduction: Extracted from gamboge resin, gambogic acid () is a natural product that displays a complex caged xanthone structure and exhibits promising antitumor properties. However, efforts to advance this compound to clinical applications have been thwarted by its limited availability that in turn, restricts its pharmacological optimization.

Methods: We report here an efficient method that allows multigram scale isolation of in greater than 97% diastereomeric purity from various sources of commercially available gamboge.

A Photoprotective Effect by Cation-π-Interaction? Quenching of Singlet Oxygen by an Indole Cation-π Model System.

We investigated the effect of the cation-π interaction on the susceptibility of a tryptophan model system toward interaction with singlet oxygen, that is, type II photooxidation. The model system consists of two indole units linked to a lariat crown ether to measure the total rate of removal of singlet oxygen by the indole units in the presence of sodium cations (i.e.

High rates of tenofovir failure in a CRF01_AE-predominant HIV epidemic in the Philippines.

Background: The Philippines has the fastest growing HIV epidemic in the Asia-Pacific. This increase was accompanied by a shift in the predominant HIV subtype from B to CRF01_AE. Increasing evidence points to a difference in treatment responses between subtypes.

Post-POEM reflux: who's at risk?

Introduction: Per-Oral Endoscopic Myotomy (POEM) is a less invasive alternative to laparoscopic Heller myotomy for patients with achalasia. While a partial fundoplication is often performed concurrently with laparoscopic myotomy, an endoscopic approach does not offer this and leaves patients prone to post-operative reflux. The objectives of this study were to (1) identify patients with post-POEM reflux using BRAVO pH and endoscopic evaluations, and (2) investigate risk factors associated with post-POEM reflux and esophagitis to optimize patient selection for POEM and identify those who will benefit from a proactive approach to post-operative reflux management.

Multicenter Evaluation of Clinical Efficacy and Safety of Per-oral Endoscopic Myotomy in Children.

Objectives: Per-oral endoscopic myotomy (POEM) is a recommended treatment modality for achalasia, but there is little published data for its use in children. The objective of the present study was to evaluate whether POEM is clinically effective and safe for children.

Methods: International multicenter retrospective study conducted in 14 tertiary centers that included consecutive children who underwent POEM between January 2012 and August 2018.

Resistance Training With Elastic Tubing Improves Muscle Strength, Exercise Capacity, and Post-Exercise Creatine Kinase Clearance in Subjects With COPD.

Background: Among the types of physical exercise, resistance exercises have been gaining significant attention in the COPD population. The aim of this study was to compare effects of conventional resistance training and of training by using elastic tubes on muscle strength, exercise capacity, and creatine kinase clearance in subjects with COPD.

Methods: Twenty-eight subjects with COPD were randomized into the following: resistance training with the elastic tubing group and resistance training with the weight-machine training group (conventional resistance group), performed 3 times a week for 12 weeks.

Robotic retro-rectus repair of parastomal hernias.

Objective: To present our technique of robotic retrorectus parastomal hernia repair.

Background: Parastomal hernias represent a significant problem with high recurrence and long-term complications. An estimated of 120,000 new stomas are created per year with a prevalence of up to 800,000 patients in the U.

Acute Paraesophageal Hernia: Laparoscopic Repair With Adjunct T-Fastener Gastropexy for the High Operative Risk Patient.

Background: In the emergent setting, most paraesophageal hernia (PEH) repairs are done by laparotomy with adjunct gastropexy or gastrostomy tube (GT) placement. This adjunct to the repair can be performed expeditiously by a laparoscopic approach by utilizing T-fasteners. We present our case series of patients with PEHs and acute gastric volvulus that were managed with laparoscopy and how patient characteristics can influence the repair technique.

Purification of Trypanosoma cruzi metacyclic trypomastigotes by ion exchange chromatography in sepharose-DEAE, a novel methodology for host-pathogen interaction studies.

Metacyclic trypomastigotes are essential for the understanding of the biology of Trypanosoma cruzi, the agent of Chagas disease. However, obtaining these biological stages in axenic medium is difficult. Techniques based on charge and density of the parasite during different stages have been implemented, without showing a high efficiency in the purification of metacyclic trypomastigotes.

An Assessment of the Frequency of Palliative Procedures in Thoracic Surgery.

Objectives: Palliative care is a medical specialty focused on improving the quality of life of patients and their families with life threatening illness by preventing or relieving suffering. An assessment of a thoracic surgery service was performed to identify the scope and frequency of care that was considered palliative and any implications the findings might have on the current thoracic surgery residency curriculum.

Methods: A retrospective review of a prospectively collected database of general thoracic surgery procedures performed over a 5-year period at a single institution was performed.

The association of air pollution and greenness with mortality and life expectancy in Spain: A small-area study.

Background: Air pollution exposure has been associated with an increase in mortality rates, but few studies have focused on life expectancy, and most studies had restricted spatial coverage. A limited body of evidence is also suggestive for a beneficial association between residential exposure to greenness and mortality, but the evidence for such an association with life expectancy is still very scarce.

Objective: To investigate the association of exposure to air pollution and greenness with mortality and life expectancy in Spain.

Large Sized Left Inferior Phrenic Artery and Parahiatal Type of Diaphragmatic Hernia Generating Confusion During Robotic Surgical Repair.

Introduction: As an advanced minimally invasive surgical procedure, the repair of the diaphragmatic hernia may sometimes be very challenging especially when the anatomy is unclear.

Materials And Methods: We are presenting a rare case of a parahiatal hernia defect repair where the understanding of the anatomy was complicated by the presence of an unusual large sized left inferior phrenic artery. The Da Vinci surgical platform was used to perform the entire procedure.

Repair of Morgagni Hernia in Adults with Primary Closure and Mesh Placement: First Robotic Experience.

Introduction: Morgagni hernia (MH) is an uncommon type of diaphragmatic hernia, especially in adults. Laparoscopic or thorascopic approaches have been described in adults. There are few reported cases using the Da Vinci robot in children and no previously described cases in adults.

The First Case Report of Robotic Multivisceral Resection for Synchronous Liver Metastasis from Pancreatic Neuroendocrine Tumor: A Case Report and Literature Review.

Introduction: Surgery for liver metastases in pancreatic neuroendocrine tumor (PNET) improves overall survival rate. We present the first case report for robotic multivisceral resection of distal pancreas, spleen, and left liver for metastatic PNET.

Materials And Methods: We present a case of 52-year-old female diagnosed with PNET in the pancreatic neck metastatic to the liver, responding to somatostatin and bland embolization, who underwent surgical debulking using da Vinci robotic platform.

Complications of laparoscopic transgastric ERCP in patients with Roux-en-Y gastric bypass.

Background: The altered anatomy of Roux-en-Y gastric bypass presents a challenge when duodenal access is required for ERCP. One technique, laparoscopic transgastric ERCP, was first described in 2002. Since that time, a total of 77 laparoscopic or percutaneous transgastric ERCPs have been reported.

Catalytic stereoselective synthesis of diverse oxindoles and spirooxindoles from isatins.

A strategy for the efficient two-step synthesis of triazole derivatives of oxindoles and spirooxindoles is presented. Using a common set of N-propargylated isatins, a series of mechanistically distinct stereoselective reactions with different combinations of nucleophiles and catalysts provide access to diverse hydroxy-oxindoles, spiroindolones, and spirocyclic oxazoline structures. The resulting N-propargylated oxindoles are then converted to triazoles using copper-catalyzed azide-alkyne cycloaddition (CuAAC) reactions.

The relationship between executive functions and fluid intelligence in Parkinson's disease.

Background: We recently demonstrated that decline in fluid intelligence is a substantial contributor to frontal deficits. For some classical 'executive' tasks, such as the Wisconsin Card Sorting Test (WCST) and Verbal Fluency, frontal deficits were entirely explained by fluid intelligence. However, on a second set of frontal tasks, deficits remained even after statistically controlling for this factor.