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chronic disorders

Margret Thorsteinsdottir, Unnur A Thorsteinsdottir, Finnur F Eiriksson, Hrafnhildur L Runolfsdottir, Inger M Sch Agustsdottir, Steinunn Oddsdottir, Baldur B Sigurdsson, Hordur K Hardarson, Nilesh R Kamble, Snorri Th Sigurdsson, Vidar O Edvardsson, Runolfur Palsson
Adenine phosphoribosyltransferase (APRT) deficiency is a hereditary disorder that leads to excessive urinary excretion of 2,8-dihydroxyadenine (DHA), causing nephrolithiasis and chronic kidney disease. Treatment with allopurinol or febuxostat reduces DHA production and attenuates the renal manifestations. Assessment of DHA crystalluria by urine microscopy is used for therapeutic monitoring, but lacks sensitivity. We report a high-throughput assay based on ultra-performance liquid chromatography coupled to tandem mass spectrometry (UPLC-MS/MS) for quantification of urinary DHA...
September 14, 2016: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
I-Ting Tsai, Chao-Ping Wang, Teng-Hung Yu, Yung-Chuan Lu, Chih-Wen Lin, Li-Fen Lu, Cheng-Ching Wu, Fu-Mei Chung, Yau-Jiunn Lee, Wei-Chin Hung, Chia-Chang Hsu
Adipocytokines play an important role in adipose tissue homeostasis, especially in obesity-associated disorders such as non-alcoholic fatty liver and their complications including hepatocellular carcinoma (HCC). Although visfatin is an adipocytokine highly expressed in visceral fat that has been demonstrated to play a critical role in the progression of human malignancies, little is known about the role of visfatin in HCC associated with chronic hepatitis C virus (HCV) and hepatitis B virus (HBV) infection...
October 19, 2016: Cytokine
K Wolinski, A Stangierski, K Dyrda, K Nowicka, M Pelka, A Iqbal, A Car, M Lazizi, N Bednarek, A Czarnywojtek, E Gurgul, M Ruchala
PURPOSE: Acromegaly is a chronic disease resulting from pathological oversecretion of growth hormone and subsequently insulin growth factor-1. Several complications of the disease have been reported, including cardiovascular diseases, respiratory disorders but also increased risk of benign and malignant neoplasms. The aim of the study was to evaluate the risk of malignant neoplasms in the patients with acromegaly in comparison with the control group. PATIENTS AND METHODS: Medical documentation of acromegalic patients treated in one medical center between 2005 and 2016 has been analyzed...
October 21, 2016: Journal of Endocrinological Investigation
Andrew S Hwang, Steven J Atlas, Johan Hong, Jeffrey M Ashburner, Adrian H Zai, Richard W Grant, Clemens S Hong
BACKGROUND: A better understanding of the attributes of patients who require more effort to manage may improve risk adjustment approaches and lead to more efficient resource allocation, improved patient care and health outcomes, and reduced burnout in primary care clinicians. OBJECTIVE: To identify and characterize high-effort patients from the physician's perspective. DESIGN: Cohort study. PARTICIPANTS: Ninety-nine primary care physicians in an academic primary care network...
October 21, 2016: Journal of General Internal Medicine
Aditya K Gupta, Jessie Carviel, William Abramovits
Alopecia areata (AA) is non-scarring hair loss resulting from an autoimmune disorder. Severity varies from patchy hair loss that often spontaneously resolves to severe and chronic cases that can progress to total loss of scalp and body hair. Many treatments are available; however, the efficacy of these treatments has not been confirmed, especially in severe cases, and relapse rates are high. First-line treatment often includes corticosteroids such as intralesional or topical steroids for mild cases and systemic steroids or topical immunotherapy with diphenylcyclopropenone or squaric acid dibutylester in severe cases...
October 22, 2016: American Journal of Clinical Dermatology
Richard A Armstrong, Ann C McKee, Victor E Alvarez, Nigel J Cairns
Chronic traumatic encephalopathy (CTE) is a neurodegenerative disorder which may result from repetitive brain injury. A variety of tau-immunoreactive pathologies are present, including neurofibrillary tangles (NFT), neuropil threads (NT), dot-like grains (DLG), astrocytic tangles (AT), and occasional neuritic plaques (NP). In tauopathies, cellular inclusions in the cortex are clustered within specific laminae, the clusters being regularly distributed parallel to the pia mater. To determine whether a similar spatial pattern is present in CTE, clustering of the tau-immunoreactive pathology was studied in the cortex, hippocampus, and dentate gyrus in 11 cases of CTE and 7 cases of Alzheimer's disease neuropathologic change (ADNC) without CTE...
October 21, 2016: Journal of Neural Transmission
E Proksch, D Dähnhardt, S Dähnhardt-Pfeiffer, R Fölster-Holst
The permeability barrier plays an important role in numerous skin diseases. Particularly well known is the importance of this barrier in eczema. In irritative-toxic contact dermatitis, the first step in the pathogenesis is the disturbance of the permeability barrier by irritative-toxic noxious substances. Only after damage to the barrier is achieved can irritants and allergens penetrate into the living epidermis. In atopic eczema due to an impaired barrier, allergens penetrate from the environment into the skin and cause or worsen the eczema...
October 21, 2016: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
Maurice M Ohayon, Kanika Bagai, Laura W Roberts, Arthur S Walters, Cristina Milesi
OBJECTIVE: This study assesses the prevalence of restless legs syndrome (RLS) using DSM-5 criteria and determines what is the most appropriate threshold for the frequency and duration of RLS symptoms. METHODS: The Sleep-EVAL knowledge base system queried the interviewed subjects on life, sleeping habits, and health. Questions on sleep and mental and organic disorders (DSM-5, ICD-10) were also asked. A representative sample of 19,136 noninstitutionalized individuals older than 18 years living in the United States was interviewed through a cross-sectional telephone survey...
October 21, 2016: Neurology
Satomi Igawa, Mari Kishibe, Masako Minami-Hori, Masaru Honma, Hisashi Tsujimura, Junko Ishikawa, Tsutomu Fujimura, Masamoto Murakami, Akemi Ishida-Yamamoto
Atopic dermatitis (AD) is a common inflammatory skin disorder. Chronic AD lesions present hyperkeratosis, indicating a disturbed desquamation process. Kallikrein-related peptidase (KLK) 7 is a serine protease involved in the proteolysis of extracellular corneodesmosome (CD) components, including desmocollin1 and corneodesmosin (Cdsn), which leads to desquamation. KLK7 is secreted by lamellar granules, and upregulated in AD lesional skin. However, despite increased KLK7 protein levels, immunostaining and electron microscopy indicated numerous CDs remaining in the uppermost layer of the stratum corneum (SC) from AD lesions...
October 18, 2016: Journal of Investigative Dermatology
Roberta E Rossi, Tara Whyand, Charles D Murray, Mark I Hamilton, Dario Conte, Martyn E Caplin
Inflammatory bowel diseases (IBD) are chronic immune disorders of unclear aetiology. Dietary deficiencies may be a potential pathogenic factor in their development. Patients often take food supplements without knowledge of any evidence base. We have therefore assessed the evidence for food supplementation in the management of IBD. A PubMed search was performed for the terms Inflammatory bowel disease; nutritional deficiencies; dietary supplements; curcumin; green tea; vitamin D/other vitamins; folic acid; iron; zinc; probiotics; andrographis paniculata; and boswellia serrate...
December 2016: European Journal of Gastroenterology & Hepatology
Gregory Plotnikoff, Melissa Barber
INTRODUCTION: Single-disorder or single-organ-system clinical practice guidelines are often of limited usefulness in guiding effective management of patients with chronic multidimensional signs and symptoms. The presence of multiple long-standing medical problems in a given patient despite intensive medical effort suggests that addressing systemic core imbalances could complement more narrowly focused approaches. CASE PRESENTATION: A 72-year-old man experiencing longstanding depression, fatigue, irritable bowel syndrome, and chronic pain in the context of additional refractory illnesses was assessed and treated, guided by a system-oriented approach to underlying core imbalances termed functional medicine...
October 14, 2016: Permanente Journal
Walter H Reinhart
The hematocrit (Hct) determines the oxygen carrying capacity of blood, but also increases blood viscosity and thus flow resistance. From this dual role the concept of an optimum Hct for tissue oxygenation has been derived. Viscometric studies using the ratio Hct/blood viscosity at high shear rate showed an optimum Hct of 50-60% for red blood cell (RBC) suspensions in plasma. For the perfusion of an artificial microvascular network with 5-70μm channels the optimum Hct was 60-70% for high driving pressures. With lower shear rates or driving pressures the optimum Hct shifted towards lower values...
October 21, 2016: Clinical Hemorheology and Microcirculation
Christina Huang Wright, Dorian Kusyk, William S Rosenberg, Jennifer A Sweet
Lymphangiomatosis is a rare congenital disorder that results in multiorgan system lymphatic invasion. Symptoms due to axial skeletal involvement can range from chronic bone pain to severe deformity resulting in radiculopathy, myelopathy, and even paralysis. The authors present a case of lymphangiomatosis of the clivus, C-1, and C-2, resulting in chronic pain. The patient was successfully treated with percutaneous transoral clivoplasty and vertebroplasty, without disease progression or return of symptoms at 2 years...
October 21, 2016: Journal of Neurosurgery. Spine
Andreas Benedikt Weins, Tilo Biedermann, Tina Weiss, Johannes Martin Weiss
A rare eosinophilic dermatosis, Wells syndrome, also referred to as eosinophilic cellulitis, is characterized by great clinical variability. Typical findings include infiltrated erythematous plaques arising on the extremities. Lesions initially resemble erysipelas/cellulitis, however, they do not improve with antibiotic treatment. Eosinophilic cellulitis is a diagnosis of exclusion that may only be made over the course of the disease, taking into account clinical and characteristic histological findings (flame figures)...
October 2016: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
Kai Zhang, Qingzhong Wang, Xuxiu Jing, Yan Zhao, Haifeng Jiang, Jiang Du, Shunying Yu, Min Zhao
A previous study reported that the miR-181a level in serum was significantly different between patients with methamphetamine-use disorder and healthy controls and that chronic methamphetamine use down-regulates the expression of miR-181a. Bioinformatic analysis predicted that miR-181a might bind the 3'-UTRs of the mRNA transcripts of the human glutamate receptor genes GRIA2 and GABRA1. In this study, we measured the expression of GRIA2 and GABRA1 in patients with methamphetamine-use disorder. In addition, we examined whether miR-181a down-regulates GRIA2 and GABRA1 in a cell-based assay...
October 21, 2016: Scientific Reports
Ada Wai Tung Fung, Wai-Chi Chan, Corine Sau-Man Wong, Eric Yu-Hai Chen, Roger Man-Kin Ng, Edwin Ho-Ming Lee, Wing-Chung Chang, Se-Fong Hung, Eric Fuk-Chi Cheung, Pak-Chung Sham, Helen Fung-Kum Chiu, Ming Lam, Tin-Po Chiang, Jim van Os, Joseph Tak-Fai Lau, Glyn Lewis, Paul Bebbington, Linda Chiu Wa Lam
BACKGROUND: Anxiety disorders are prevalent yet under-recognized in late life. We examined the prevalence of anxiety disorders in a representative sample of community dwelling older adults in Hong Kong. METHOD: Data on 1,158 non-demented respondents aged 60-75 years were extracted from the Hong Kong Mental Morbidity survey (HKMMS). Anxiety was assessed with the revised Clinical Interview Schedule (CIS-R). RESULT: One hundred and thirty-seven respondents (11...
October 21, 2016: International Psychogeriatrics
Shasha Yuan, Weidong Zhou, Junhui Li, Qi Wu
Epilepsy is a serious chronic neurological disorder, which affects more than 50 million people worldwide, and automatic seizure detection on EEG recordings is extremely required in the diagnosis and monitoring of epilepsy. This paper presents a novel seizure detection method using sparse representation-based Earth Mover's Distance (SR-EMD). In the proposed algorithm, wavelet decomposition is executed on the original EEG recordings with five scales, and the scales 3, 4 and 5 are selected to structure the distributions of EEG signals...
October 20, 2016: Medical & Biological Engineering & Computing
Nicole Mons, Daniel Beracochea
A prime mechanism that contributes to the development and maintenance of alcoholism is the dysregulation of the hypothalamic-pituitary-adrenal axis activity and the release of glucocorticoids (cortisol in humans and primates, corticosterone in rodents) from the adrenal glands. In the brain, sustained, local elevation of glucocorticoid concentration even long after cessation of chronic alcohol consumption compromises functional integrity of a circuit, including the prefrontal cortex (PFC), the hippocampus (HPC), and the amygdala (AMG)...
2016: Frontiers in Psychiatry
Jinping Shao, Jing Cao, Jiannan Wang, Xiuhua Ren, Songxue Su, Ming Li, Zhihua Li, Qingzan Zhao, Weidong Zang
Voltage-gated sodium channels, which are involved in pain pathways, have emerged as major targets for therapeutic intervention in pain disorders. Nav1.7, the tetrodotoxin-sensitive voltage-gated sodium channel isoform encoded by SCN9A and predominantly expressed in pain-sensing neurons in the dorsal root ganglion, plays a crucial role in nociception. MicroRNAs are highly conserved, small non-coding RNAs. Through binding to the 3' untranslated region of their target mRNAs, microRNAs induce the cleavage and/or inhibition of protein translation...
2016: Molecular Pain
Joshua W Hustedt, Andrew Chung, Daniel D Bohl, Neil Olmscheid, Scott Edwards
PURPOSE: The clinical decision to replant an amputated digit is driven primarily by surgical indication. However, the extent to which patient comorbidity should play into this decision is less well defined. This study was designed to determine the effect of patient comorbidities on the success, risk, and cost of digital replantation. METHODS: All amputation injuries and digital replantation procedures captured by the National Inpatient Sample during 2001 to 2012 were identified...
October 17, 2016: Journal of Hand Surgery
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