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Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype.

Bothnian palmoplantar keratoderma (PPKB, MIM600231) is an autosomal dominant form of diffuse non-epidermolytic PPK characterized by spontaneous yellowish-white PPK associated with a spongy appearance after water-immersion. It is due to heterozygous mutations. We report four patients carrying a novel heterozygous mutation (c.125T>A; p.(Ile42Asn)), and belonging to the same French family. Early palmoplantar swelling (before one year of age), pruritus and hyperhidrosis were constant. The PPK was finally characterized as transgrediens, non-progrediens, diffuse PPK with a clear delineation between normal and affected skin. The cutaneous modifications at water-immersion test, "hand-in-the-bucket sign", were significantly evident after 3 to 6 min of immersion in the children and father, respectively. AQP5 protein is expressed in eccrine sweat glands (ESG), salivary and airway submucosal glands. In PPKB, gain of function mutations seem to widen the channel diameter of ESG and increase water movement. Thus, swelling seems to be induced by hypotonicity with water entrance into cells, while hyperhidrosis is the result of an increased cytosolic calcium concentration.

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Trigeminal Neuralgia – Step-by-Step Dyna-CT Assisted Balloon Compression Rhizotomy.

Trigeminal Nerve Balloon Compression (TNBC)[1-3] can provide immediate therapeutic relief to patients suffering from trigeminal neuralgia (TN). This is a particularly effective treatment option for patients who are not eligible for surgical procedures (i.e. elderly patients or patients with multiple co-morbidities) or for patients who have had an insufficient response to microvascular decompression. TNBC can also be used as a bridge treatment before Stereotactic Radiosurgery (SRS). Use of intraoperative DYNA-CT imaging facilitates the TNBC procedure[4, 5]. Three-dimensional DYNA-CT imaging with needle guidance allows for precise needle advancement and insertion through the foramen ovale (FO). DYNA-CT enables the direct visualization and avoidance of vascular structures such as the carotid or internal maxillary arteries and results in decreased procedure times and complications.

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Pylephlebitis after sigmoid colonic polypectomy.

A man in his 40s presented with a 7-day history of fever and abdominal pain after polypectomy of the sigmoid colon. On physical examination, he had mild tenderness on deep palpation of the left lower abdominal quadrants without guarding, rigidity or rebound tenderness. Contrast-enhanced CT revealed the thrombosis of the inferior mesenteric vein and the portal vein. Blood cultures were positive for We diagnosed him with pylephlebitis after colonic polypectomy, as a rare complication. He was started on cefmetazole and heparin. Antibiotic and anticoagulation therapy were initiated. He had a complete recovery within 17 days. The patient had no evidence of underlying hypercoagulable condition, and no signs of recurrence at a 3-month follow-up. Pylephlebitis after colonic polypectomy is extremely rare. Although bacteraemia after colonoscopy was a rare complication, phlebitis should be considered in the differential diagnosis of patients who present with persisted fever and abdominal pain after polypectomy.

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Noninvasive Ventilation for Acute Respiratory Failure in Pediatric Patients: A Systematic Review and Meta-Analysis.

To perform a systematic review and meta-analysis of randomized controlled trials (RCTs) on the use of noninvasive ventilation (NIV) for acute respiratory failure (ARF) in pediatric patients.

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Quercetin and its role in reducing the expression of pro-inflammatory cytokines in osteoarthritis.

Osteoarthritis is the most common human joint disease in the world. It is also one of the most common skeletal muscle defects, destructive joint changes, and the leading cause of disability and reduced quality of life. Destructive changes in inflammatory joints are associated with a range of biochemical events, including the overproduction of inflammatory cytokines. Cytokines are protein compounds that play an essential role in causing and regulating inflammation. A balance between pro-inflammatory and anti-inflammatory cytokines is crucial in maintaining a stable body. In some inflammatory diseases, including osteoarthritis, the balance between these compounds is disturbed, and the balance shifts to pre-inflammatory cytokines. For this reason, researchers today are trying to find an effective way to reduce inflammation and treat osteoarthritis by using certain compounds. Current treatments for osteoarthritis, including nonsteroidal anti-inflammatory drugs, glucocorticoids, and hyaluronic acid, are mainly based on reducing pain and inflammation. However, they have limited effects in controlling symptoms and improving the patient's quality of life. Also, due to the high level of side effects, synthetic drugs have led to the identification of compounds of natural origin to give patients a chance to use painkillers and anti-inflammatory drugs with fewer side effects. This review study aimed to present the role of quercetin as a natural compound in reducing the expression of pro-inflammatory cytokines in osteoarthritis. This study also discusses the relationship between inflammation and cartilage destruction and other inflammation-related factors caused by cytokines.

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Neuromodulation using a hybrid technique of combined perineural local anesthetic and nerve stimulation in six challenging clinical scenarios.

Postamputation pain is challenging because of complex mechanisms involving a multitude of pain pathways and psychological factors. This patient population also tends to have extensive comorbidities with or without a background of chronic pain. Electrical neuromodulation such as peripheral nerve stimulation has gained traction in the realm of chronic pain. Recently, the off-label use of hybrid perineural nerve stimulation in combination with locoregional block via the stimulating nerve block catheter has been described in single-center case reports.

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Body image concerns in long-term head and neck cancer survivors: prevalence and role of clinical factors and patient-reported late effects.

Head and neck cancer (HNC) patients are at risk of long-term body image distress (BID). We aimed to investigate the severity of BID in long-term HNC survivors and to explore the associations between sociodemographic and clinical factors, patient-reported late effects, and cancer-related body image (BI) concerns.

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Surgical resection for accessory spleen torsion: A case report.

Accessory spleen torsion is extremely rare, and surgery is often the emergency or elective treatment of choice.

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Therapeutic Effect of a Latent Form of Cortistatin in Experimental Inflammatory and Fibrotic Disorders.

Cortistatin is a cyclic neuropeptide that recently emerged as an attractive therapeutic factor for treating inflammatory, autoimmune, fibrotic, and pain disorders. Despite of its efficiency and apparent safety in experimental preclinical models, its short half-life in body fluids and its potential pleiotropic effects, due to its promiscuity for several receptors expressed in various cells and tissues, represent two major drawbacks for the clinical translation of cortistatin-based therapies. Therefore, the design of new strategies focused on increasing the stability, bioavailability, and target specificity of cortistatin are lately demanded by the industry. Here, we generated by molecular engineering a new cortistatin-based prodrug formulation that includes, beside the bioactive cortistatin, a molecular-shield provided by the latency-associated protein of the transforming growth factor-β1 and a cleavage site specifically recognized by metalloproteinases, which are abundant in inflammatory/fibrotic foci. Using different models of sepsis, inflammatory bowel disease, scleroderma, and pulmonary fibrosis, we demonstrated that this latent form of cortistatin was a highly effective protection against these severe disorders. Noteworthy, from a therapeutic point of view, is that latent cortistatin seems to require significantly lower doses and fewer administrations than naive cortistatin to reach the same efficacy. Finally, the metalloproteinase-cleavage site was essential for the latent molecule to exert its therapeutic action. In summary, latent cortistatin emerges as a promising innovative therapeutic tool for treating chronic diseases of different etiologies with difficult clinical solutions and as a starting point for a rational development of prodrugs based on the use of bioactive peptides.

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Burden of Neurological Diseases in the Philippines as Revealed by Web Searches: An Infodemiological Study.

Due to the real-time acquisition of big data from the Internet, analysis of Google queries is now recognized as a valuable tool to explore and predict human behavior and interests. It was suggested that online data can be correlated with actual health data. Although the data are not structured nor systematic, the huge data from search engines can easily identify trends concerning diseases and other health concepts from a population perspective. Moreover, Internet data with the use of web search advertising nowadays may not only reveal the interest of the general population but also of the healthcare industry as reflected by the bid prices in search terms for medications. We aimed to compare the interests of the general population using monthly search volumes from Google and the healthcare industry using bid prices in web searches. Data used in this study were obtained from the Google Ads Application Programming Interface (API). This study evaluated the population's interest in neurological disorders by using search volumes related to neurology, either disease diagnosis or medications. Bid values generated in API were used as a proxy for the interests of the healthcare industry. Spearman's rank-order correlation was performed between search volumes and bid prices to determine significance. Among the neurologic diseases listed, the most searched were attention deficit hyperactivity disorder, migraine, and Alzheimer's disease. The most commonly searched drugs were oral antihypertensives (amlodipine, losartan, carvedilol), lipid-lowering agents (atorvastatin, simvastatin, rosuvastatin), and antiplatelets (acetylsalicylic acid, clopidogrel). The other most searched drugs were analgesics such as acetaminophen, tramadol, diclofenac, and morphine. The correlational analysis did not reveal a statistically significant correlation between search volume and bid price for both neurologic diseases and medications. Web searches may reflect the interest of the general population and the healthcare industry. However, there was disagreement in the search interests of the general population and the scientific community, including the pharmaceutical industry. Further studies are necessary in order to align these interests for the common benefit of all stakeholders.

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