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Paramyotonia congenita is an autosomal dominant skeletal muscle channelopathy caused by missense mutations in SCN4A, the gene encoding the α subunit of the human skeletal muscle voltage-gated sodium channel NaV1.4. Here, we report a three-generation family in which six members present clinical symptoms of paramyotonia congenita characterized by a marked worsening of myotonia by cold and by the presence of clear episodes of paralysis. We identified a novel mutation in SCN4A (Asn-1366-Ser, N1366S) in all pat...
The purpose of this study was to improve the prognostic value of tumour histopathology image analysis methodology by image preprocessing. Key image qualities were modified including contrast, sharpness and brightness. The texture information was subsequently extracted from images of haematoxylin/eosin-stained tumour tissue sections by GLCM, monofractal and multifractal algorithms without any analytical limitation to predefined structures. Images were derived from patient groups with invasive breast carcinom...
Despite known risks of prenatal nutritional deficiencies and studies documenting increased prevalence of poor dietary intake among non-pregnant alcohol abusers, the nutritional status of heavy drinking pregnant women remains largely unstudied. Animal models have found interactions between prenatal ethanol exposure and micronutrients, such as choline, folate, B12, and iron, and human studies have reported that lower maternal weight and body mass confer increased fetal alcohol-related risk.
To detect and characterize changes in stiffness of thrombus in patients with acute and subacute deep venous thrombosis (DVT) by using real-time elastography (RTE).
Urine cytology is the corner-stone for the diagnosis of urothelial neoplasia; however, a substantial proportion of low-grade carcinomas are reported as inconclusive owing to scant cellularity and subtle cytological features. Biomarkers applied on urine sediment smears of such patients are likely to be clinically relevant. Access to Food and Drug Administration approved urinary biomarkers in resource limited setting is poor. Detection of cytokeratin 20 (CK20) in urine sediments, although still a research too...
ABCB5 has been identified as a tumour initiating cell marker and is expressed in various malignancies, including melanoma. Moreover, treatment with anti-ABCB5 monoclonal antibodies has been shown to inhibit tumour growth in xenotransplantation models. Therefore, ABCB5 represents a potential target for cancer immunotherapy. However, cellular immune responses against ABCB5 in humans have not been described so far. Here, we investigated whether ABCB5-reactive T cells are present in human melanoma patients and ...
Loop diuretics remain a fundamental pharmacological therapy to remove excess fluid and improve symptom control in acute decompensated heart failure. Several recent randomised controlled trials have examined the clinical benefit of continuous vs. bolus furosemide in acute decompensated heart failure, but have reported conflicting findings. The aim of this review was to compare the effects of continuous and bolus furosemide with regard to mortality, length of hospital stay and its efficacy profile in acute de...
Regional cerebral oxygen saturation (rSO2 ) is currently the most used measure in clinical practice to monitor cerebral ischemia in patients undergoing carotid endarterectomy (CEA). Although end-tidal carbon dioxide (PET CO2 ) is known as a factor that influences rSO2 , the relationship between PET CO2 and rSO2 has not been quantitatively evaluated in patients with severe arteriosclerosis. This study aimed to evaluate the effect of PET CO2 on rSO2 in patients undergoing CEA under general anaesthesia.
To assess the sociodemographic data and clinical information of outpatients affected by vitiligo in the northeast of China, vitiligo patients or guardians who presented to the clinic were invited to participate in an exploratory questionnaire. The questionnaire consisted of two sections related to vitiligo, including sociodemographic data and clinical information. A total of 983 vitiligo patients answered the questionnaire. The rates of female and male patients were comparable. The investigated patients wer...
Coordinated multidisciplinary perioperative care through enhanced recovery protocols has improved outcomes within urologic surgery. Continued development and refinement of enhanced recovery after surgery (ERAS) pathways will further augment the care of patients undergoing all urologic procedures. Among the challenges, moving forward is identification of barriers to ERAS adoption by providers, maximizing adherence among patients, standardization of ERAS pathways through establishment of evidence-based princi...
The authors built a model for lung cancer diagnosis previously based on the blood biomarkers progastrin-releasing peptide (ProGRP), carcinoembryonic antigen (CEA), squamous cell carcinoma antigen (SCC), and cytokeratin 19 fragment (CYFRA21-1). In the current study, they examined whether modification of the model to include relevant clinical information, risk factors, and low-dose chest computed tomography screening would improve the performance of the biomarker panel in large cohorts of Chinese adults.
Allergic rhinoconjunctivitis (AR) is an allergic disorder of the nose and eyes affecting about a fifth of the general population. Symptoms of AR can be controlled with allergen avoidance measures and pharmacotherapy. However, many patients continue to have ongoing symptoms and an impaired quality of life; pharmacotherapy may also induce some side-effects. Allergen immunotherapy (AIT) represents the only currently available treatment that targets the underlying pathophysiology and it may have a disease modif...
Incidence of, and baseline characteristics associated with delirium in patients after cytoreduction surgery-hyperthermic intraperitoneal chemotherapy (CRS-HIPEC), were subject of investigation.
Adverse drug reactions (ADRs) are a common problem in children. Health-related quality of life in patients with such conditions has not been well studied. In this study we found that health-related quality of life is adversely affected in children who developed ADRs with cutaneous manifestations.
Given that the vocal folds are active organs of respiration, reports of dyspnea in the context of glottic insufficiency are not uncommon. We hypothesize that improved glottal closure via framework surgery or vocal fold augmentation improves dyspnea symptoms.
The identification of biomarkers would be benefit for the diagnosis and treatment of colorectal cancer in clinic. DNA methylation in specific genomic regions, which had shown strongly association with disease genotypes, was effective indicators to reveal the occurrence and development of cancers. To screen out the methylation biomarkers for colorectal cancer (CRC), genomic DNA was isolated from colorectal cancerous and corresponding cancer-adjacent tissues collected from 30 CRC patients and then bisulfite-c...
We investigated whether CYP2D6 extensive metabolizers (EM) carrying a non-functional allele are at higher risk of phenoconversion to poor metabolizers in presence of CYP2D6 inhibitors. Seventeen homozygous carriers of two fully-functional alleles and seventeen heterozygous carriers of one fully-functional and one non-functional allele participated in this trial. Dextromethorphan 5mg and tramadol 10mg were given at each of the three study sessions. CYP2D6 was inhibited by duloxetine 60mg (session 2) and paro...
In the dermatological literature, the term 'contact urticaria syndrome' is often used with patients presenting no symptoms of contact urticaria, but symptoms of adjacent mucous membranes evolving to a systemic allergic reaction. Contact urticaria refers to a wheal and flare reaction following external contact with a causative substance. Its use should be restricted to skin: a skin reaction after direct skin contact.
To understand patient, primary care clinician (PCC), and subspecialist perspectives on potential, unexplored roles for patients in electronic consultation and referral (eCR) systems.
Scrotal hair is a clinical condition that occurs rarely in infancy. Its prevalence is not known. We present a retrospective analysis of six patients referred to our pediatric endocrinology clinic. Except for scrotal hair development, all physical examinations were normal. Underlying pathologic hyperandrogenism was excluded in each case. Clinical regression was observed in all four infants with documented follow-up visits. Scrotal hair in infancy is not well known to most pediatricians and dermatologists and...
In a phase 1 study of pulse/continuous-dose erlotinib, no patient had disease progression in the central nervous system (CNS). This expansion cohort of the phase 1 study tested the same regimen in a cohort of individuals with epidermal growth factor receptor (EGFR)-mutant lung cancers with untreated brain metastases.
The auditory P50/M50 ERP/event-related field is subject to sensory gating, with partial suppression of the amplitude of the second of two (S1 and S2) clicks presented 500 ms apart. Schizophrenia patients have less gating, although quantification methods and associated effect sizes vary across studies using first-admission and/or using chronic patients. The present study evaluated the impact of several methods of quantifying gating in first-admission (FA) and chronic (CHR) schizophrenia patients and in healt...
Gall bladder cancer (GBC) is a disease with high incidence in India. We analyzed the outcomes of patients with suspected GBC who underwent surgical exploration.
Cognitive fluctuations (CFs) occur commonly in dementia of all types. While it is generally accepted that CFs can affect the clinical rating of dementia severity and neuropsychological performance, little is known about their impact on patients' activities of daily living (ADLs) and quality of life (QOL). Our study aims to explore the impact of CFs on ADLs and QOL among institutionalized patients with dementia.
To satisfy the rapid development of portable and wearable electronics, it is highly desired to make batteries with both high energy densities and flexibility. Although some progresses have been made in recent decades, the available batteries share critical problems of poor energy storage capacity and low flexibility. Herein, we have developed a silicon-oxygen battery fiber with high energy density and ultra-flexibility by designing a coaxial architecture with lithiated silicon/carbon nanotube hybrid fiber a...