Rejected

Alagille syndrome (ALGS) is an autosomal dominant disorder caused by pathogenic variants in or , which encode fundamental components of the Notch signaling pathway. Clinical features span multiple organ systems including hepatic, cardiac, vascular, renal, skeletal, craniofacial, and ocular, and occur with variable phenotypic penetrance. Genotype-phenotype correlation studies have not yet shown associations between mutation type and clinical manifestations or severity, and it has been hypothesized that modifier genes may modulate the effects of and pathogenic variants. Medical management is supportive, focusing on clinical manifestations of disease, with liver transplant indicated for severe pruritus, liver synthetic dysfunction, portal hypertension, bone fractures, and/or growth failure. New therapeutic approaches are under investigation, including ileal bile acid transporter (IBAT) inhibitors and other approaches that may involve targeted interventions to augment the Notch signaling pathway in involved tissues.

Breath-holding spells (BHS) are commonly observed in children as a result of an autonomic nervous system disorder triggered by crying, emotional distress, or pain. There are several types of BHS and cyanotic type is one of them. We encountered a case of 3-year-old girl who presented with a delayed adaptation period and BHS 2 weeks after an endoscopic third ventriculostomy (ETV). She experienced severe headache due to increased intracranial pressure (ICP) during the delayed adaptation period, which may have contributed to the onset of BHS. Management of BHS warrants treatment of the symptoms and removal of the causative factors; in our case, intensive pain control and resolution of the increased ICP after the adaptation period were effective. While BHS are usually described as a benign condition that improves spontaneously, we highlighted the importance of recognizing and monitoring atypical symptoms such as BHS in pediatric cases.

This critical review describes key methodological aspects for a successful orofacial psychophysical evaluation of the somatosensory system and highlights the diagnostic value of somatosensory assessment and management perspectives based on somatosensory profiling.

To investigate the topological alterations of the whole-brain white matter structural networks in episodic migraine (EM) without aura.

Atopic dermatitis (AD) is a common inflammatory dermatologic disease clinically characterized by intense itch, recurrent eczematous lesions, and a chronic or relapsing disease course. Mild-to-moderate AD can be controlled by using moisturizers and topical immunomodulators such as topical corticosteroids and calcineurin inhibitors. If topical therapies fail, phototherapy and systemic immunosuppressant therapies, such as ciclosporin, methotrexate, and azathioprine, can be considered. However, relapse and side effects could still occur. The pathogenesis of AD involves epidermal barrier dysfunction, skin microbiome abnormalities, and cutaneous inflammation. Inflammatory mediators, such as interleukin (IL)-4, IL-13, IL-31, IL-33, IL-17, IL-23, and thymic stromal lymphopoietin, are involved in AD development. Therefore, a series of biological agents targeting these cytokines are promising approaches for treating AD. Dupilumab is the first biological agent approved for the treatment of AD in patients aged 6 years and older in the United States. Tralokinumab, lebrikizumab, and nemolizumab have also been confirmed to have significant efficacy against AD in phase III or IIb clinical trials. Also, fezakinumab was effective in severe AD patients in a phase IIa trial. However, phase II trials of ustekinumab, tezepelumab, etokimab, secukinumab, and omalizumab have failed to meet their primary endpoints. Phase II trials of GBR 830 and KHK 4083 are ongoing. In general, further studies are needed to explore new therapeutic targets and improve the efficacy of biological agents.

People living with burn injury often report temperature sensitivity. However, its epidemiology and associations with health-related quality of life (HRQOL) are unknown. We aimed to characterize temperature sensitivity and determine its impact on HRQOL to inform patient education after recovery from burn injury.

Several factors play a role in the pathogenesis of pruritus in uremic patients. The pathophysiology is complex and many factors have been identified in these patients. The aim of this study was to investigate the presence, severity, and possible causes of pruritus in patients with peritoneal dialysis (PD) .

Effect of ultrasound guided injections of autologous ASCs in chronic recalcitrant patellar tendinopathy.

This study highlights the effect of a genicular nerve block (GNB) on pain, function, and inflammation outcome measures in rheumatoid arthritis (RA) knees.