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https://www.readbyqxmd.com/read/28090459/anti-m%C3%A3-llerian-hormone-as-a-predictor-of-polycystic-ovary-syndrome-treated-with-clomiphene-citrate
#1
Andon Hestiantoro, Yuwono Sri Negoro, Yohana Afrita, Budi Wiweko, Kanadi Sumapradja, Muharam Natadisastra
OBJECTIVE: This study aimed to determine the threshold of anti-Müllerian hormone (AMH) as predictor of follicular growth failure in polycystic ovary syndrome (PCOS) patients treated with clomiphene citrate (CC). METHODS: Fifty female subjects with PCOS were recruited and divided into two groups based on successful and unsuccessful follicular growth. Related variables such as age, infertility duration, cigarette smoking, use of Moslem hijab, sunlight exposure, fiber intake, body mass index, waist circumference, AMH level, 25-hydroxy vitamin D level, and growth of dominant follicles were obtained, assessed, and statistically analyzed...
December 2016: Clinical and Experimental Reproductive Medicine
https://www.readbyqxmd.com/read/28088179/chronic-constipation-diagnosis-and-treatment-evaluation-the-chro-co-di-t-e-study
#2
Massimo Bellini, Paolo Usai-Satta, Antonio Bove, Renato Bocchini, Francesca Galeazzi, Edda Battaglia, Pietro Alduini, Elisabetta Buscarini, Gabrio Bassotti
BACKGROUND: According to Rome criteria, chronic constipation (CC) includes functional constipation (FC) and irritable bowel syndrome with constipation (IBS-C). Some patients do not meet these criteria (No Rome Constipation, NRC). The aim of the study was is to evaluate the various clinical presentation and management of FC, IBS-C and NRC in Italy. METHODS: During a 2-month period, 52 Italian gastroenterologists recorded clinical data of FC, IBS-C and NRC patients, using Bristol scale, PAC-SYM and PAC-QoL questionnaires...
January 14, 2017: BMC Gastroenterology
https://www.readbyqxmd.com/read/28077839/atypical-trigeminal-neuralgia-a-rare-neurological-manifestation-of-systemic-lupus-erythematosus
#3
Viki Kumar, Jaspinder Kaur, Pallavi Pothuri, Sahiba Bandagi
BACKGROUND Systemic lupus erythematosus (SLE) is a multisystem autoimmune disorder of unknown etiology which can present at any age with symptoms of mucocutaneous, musculoskeletal, renal, central nervous system, and nonspecific clinical pictures making the disease a "master of mimicry". CASE REPORT A 53-year-old female, who was recently diagnosed with SLE, presented with right-sided sharp and electric shock-like facial pain starting at the side of her right nostril and traveling down the naso-labial fold and then back to the angle of the jaw, mostly in the region of V2-V3 distribution with no radiation beyond trigeminal distribution...
January 12, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28077511/altered-connectivity-and-synapse-maturation-of-the-hippocampal-mossy-fiber-pathway-in-a-mouse-model-of-the-fragile-x-syndrome
#4
F Scharkowski, Michael Frotscher, David Lutz, Martin Korte, Kristin Michaelsen-Preusse
The Fragile X syndrome (FXS) as the most common monogenetic cause of cognitive impairment and autism indicates how tightly the dysregulation of synapse development is linked to cognitive deficits. Symptoms of FXS include excessive adherence to patterns that point to compromised hippocampal network formation. Surprisingly, one of the most complex hippocampal synapses connecting the dentate gyrus (DG) to CA3 pyramidal neurons has not been analyzed in FXS yet. Intriguingly, we found altered synaptic function between DG and CA3 in a mouse model of FXS (fmr1 knockout [KO]) demonstrated by increased mossy fiber-dependent miniature excitatory postsynaptic current (mEPSC) frequency at CA3 pyramidal neurons together with increased connectivity between granule cells and CA3 neurons...
January 10, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28073652/tarsal-tunnel-syndrome-due-to-three-different-types-of-ganglion-during-a-12-year-period-a-case-report
#5
Motohisa Kawakatsu, Toshihiro Ishiko, Masafumi Sumiya
A 52-year-old male complained of numbness and radiating pain affecting the plantar region of his left foot. He was found to have recurrent tarsal tunnel syndrome due to posterior tibial nerve compression by 3 different types of ganglion during a 12-year period. To the best of our knowledge, a similar case has not been documented. At the first operation, flexor retinaculum release and simple excision of an epineural ganglion were performed without injuring the nerve fascicles; however, an intrafascicular ganglion developed approximately 2 years later...
January 7, 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28067588/health-benefits-of-fiber-fermentation
#6
Wendy J Dahl, Nicole C Agro, Åsa M Eliasson, Kaley L Mialki, Joseph D Olivera, Carley T Rusch, Carly N Young
Although fiber is well recognized for its effect on laxation, increasing evidence supports the role of fiber in the prevention and treatment of chronic disease. The aim of this review is to provide an overview of the health benefits of fiber and its fermentation, and describe how the products of fermentation may influence disease risk and treatment. Higher fiber intakes are associated with decreased risk of cardiovascular disease, type 2 diabetes, and some forms of cancer. Fiber may also have a role in lowering blood pressure and in preventing obesity by limiting weight gain...
January 9, 2017: Journal of the American College of Nutrition
https://www.readbyqxmd.com/read/28065471/mutations-in-atp6v1e1-or-atp6v1a-cause-autosomal-recessive-cutis-laxa
#7
Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed, Sergio Guerrero-Castillo, Peter Freisinger, Brecht Guillemyn, Ariana Kariminejad, Daisy Dalloyaux, Sanne van Kraaij, Dirk J Lefeber, Delfien Syx, Wouter Steyaert, Riet De Rycke, Alexander Hoischen, Erik-Jan Kamsteeg, Sunnie Y Wong, Monique van Scherpenzeel, Payman Jamali, Ulrich Brandt, Leo Nijtmans, G Christoph Korenke, Brian H Y Chung, Christopher C Y Mak, Ingrid Hausser, Uwe Kornak, Björn Fischer-Zirnsak, Tim M Strom, Thomas Meitinger, Yasemin Alanay, Gulen E Utine, Peter K C Leung, Siavash Ghaderi-Sohi, Paul Coucke, Sofie Symoens, Anne De Paepe, Christian Thiel, Tobias B Haack, Fransiska Malfait, Eva Morava, Bert Callewaert, Ron A Wevers
Defects of the V-type proton (H(+)) ATPase (V-ATPase) impair acidification and intracellular trafficking of membrane-enclosed compartments, including secretory granules, endosomes, and lysosomes. Whole-exome sequencing in five families affected by mild to severe cutis laxa, dysmorphic facial features, and cardiopulmonary involvement identified biallelic missense mutations in ATP6V1E1 and ATP6V1A, which encode the E1 and A subunits, respectively, of the V1 domain of the heteromultimeric V-ATPase complex. Structural modeling indicated that all substitutions affect critical residues and inter- or intrasubunit interactions...
December 29, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28059126/an-exploratory-study-of-predisposing-genetic-factors-for-digeorge-velocardiofacial-syndrome
#8
Laia Vergés, Francesca Vidal, Esther Geán, Alexandra Alemany-Schmidt, Maria Oliver-Bonet, Joan Blanco
DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a disorder caused by a 22q11.2 deletion mediated by non-allelic homologous recombination (NAHR) between low-copy repeats (LCRs). We have evaluated the role of LCR22 genomic architecture and PRDM9 variants as DGS/VCFS predisposing factors. We applied FISH using fosmid probes on chromatin fibers to analyze the number of tandem repeat blocks in LCR22 in two DGS/VCFS fathers-of-origin with proven 22q11.2 NAHR susceptibility. Results revealed copy number variations (CNVs) of L9 and K3 fosmids in these individuals compared to controls...
January 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28056338/hanac-col4a1-mutation-in-mice-leads-to-skeletal-muscle-alterations-due-to-a-primary-vascular-defect
#9
Simon Guiraud, Tiffany Migeon, Arnaud Ferry, Zhiyong Chen, Souhila Ouchelouche, Marie-Christine Verpont, Yoshikazu Sado, Valérie Allamand, Pierre Ronco, Emmanuelle Plaisier
Collagen IV is a major component of basement membranes (BMs). The α1(IV) chain, encoded by the COL4A1 gene, is expressed ubiquitously and associates with the α2(IV) chain to form the α1α1α2(IV) heterotrimer. Several COL4A1 mutations affecting a conformational domain containing integrin-binding sites are responsible for the systemic syndrome of hereditary angiopathy, nephropathy, aneurysms, and cramps (HANAC). To analyze the pathophysiology of HANAC, Col4a1 mutant mice bearing the p.Gly498Val mutation were generated...
January 2, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28053698/vincristine-alleviates-adriamycin-induced-nephropathy-through-stabilizing-actin-cytoskeleton
#10
Lei Yin, Youying Mao, Hejie Song, Ye Wang, Wei Zhou, Zhen Zhang
Antimicrotubule agent vincristine (VCR) has long been known as an alternative treatment for frequent relapse nephrotic syndrome and steroid-dependent nephrotic syndrome (SDNS). However, the mechanism is unknown. Here we found that VCR at a dosage much lower than that as an antimicrotubule agent can alleviate adriamycin (ADR)-induced proteinuria and podocyte foot process effacement. In cultured podocytes, VCR prevents ADR-induced actin fiber disorganization. In both in vitro and in vivo models, VCR suppresses ADR-induced overexpression of α3β1 integrin and focal adhesion kinase (FAK)...
2017: Cell & Bioscience
https://www.readbyqxmd.com/read/28052420/a-novel-approach-to-brachycephalic-syndrome-3-isolated-laser-assisted-turbinectomy-of-caudal-aberrant-turbinates-cat-late
#11
Riccarda Schuenemann, Sabine Pohl, Gerhard U Oechtering
OBJECTIVE: To describe isolated laser-assisted turbinectomy of caudal aberrant turbinates (CAT LATE) as a new minimally invasive surgical procedure for the treatment of brachycephalic dogs with obstructing caudal aberrant turbinates (CAT). STUDY DESIGN: Prospective clinical study. ANIMALS: Brachycephalic dogs (24 Pugs, 1 English Bulldog) with CAT but adequate air spaces between the lamellae of the nonobstructing ventral nasal concha. METHODS: A rhinoscopically guided diode laser fiber introduced from anterior was used to dissect CAT within the nasopharyngeal meatus, while leaving the intranasal turbinates intact...
January 2017: Veterinary Surgery: VS
https://www.readbyqxmd.com/read/28039362/defining-the-temporal-course-of-murine-neurofibromatosis-1-optic-gliomagenesis-reveals-a-therapeutic-window-to-attenuate-retinal-dysfunction
#12
Joseph A Toonen, Yu Ma, David H Gutmann
BACKGROUND: Optic gliomas arising in the neurofibromatosis type 1 (NF1) cancer predisposition syndrome cause reduced visual acuity in 30%-50% of affected children. Since human specimens are rare, genetically engineered mouse (GEM) models have been successfully employed for preclinical therapeutic discovery and validation. However, the sequence of cellular and molecular events that culminate in retinal dysfunction and vision loss has not been fully defined relevant to potential neuroprotective treatment strategies...
December 29, 2016: Neuro-oncology
https://www.readbyqxmd.com/read/28028573/diffusion-tensor-imaging-and-tractography-of-the-sciatic-nerve-assessment-of-fractional-anisotropy-and-apparent-diffusion-coefficient-values-relative-to-the-piriformis-muscle-a-preliminary-study
#13
Keizo Wada, Takuya Hashimoto, Ryo Miyagi, Toshinori Sakai, Koichi Sairyo
OBJECTIVE: Piriformis muscle syndrome (PMS) is underdiagnosed. To evaluate the potential of diffusion tensor imaging and diffusion tensor tractography as innovative tools for the diagnosis of PMS by functional assessment of the sciatic nerve, the aims of this study are to assess the reproducibility and to evaluate the changes in the parameters at levels proximal and distal to the piriformis. MATERIALS AND METHODS: Fractional anisotropy (FA) and the apparent diffusion coefficient (ADC) of the sciatic nerve at three levels were quantified twice each by two examiners using the fiber-tracking method...
December 27, 2016: Skeletal Radiology
https://www.readbyqxmd.com/read/28026118/mounier-kuhn-syndrome-tracheobronchomegaly-an-analysis-of-eleven-cases
#14
Recep Akgedik, Harun Karamanli, Deniz Kizilirmak, Ali Bekir Kurt, Hasan Öztürk, Berna Botan Yildirim, Lütfullah Çakir
BACKGROUND AND AIM: Mounier-Kuhn syndrome (MKS) is a congenital disorder characterized by tracheobronchomegaly resulting from the absence of elastic fibers in the trachea and main bronchi or atrophy and thinning of the smooth muscle layer. In this syndrome, dead space associated with tracheobronchomegaly increases and discharge of secretions decreases because of ineffective coughing. The most common complications are recurrent lower respiratory tract infections and bronchiectasis. We examined the clinical characteristics, radiological features, and related complications of patients with MKS...
December 27, 2016: Clinical Respiratory Journal
https://www.readbyqxmd.com/read/28025371/prevalence-of-myofascial-pain-syndrome-in-chronic-non-specific-neck-pain-a-population-based-cross-sectional-descriptive-study
#15
Ester Cerezo-Téllez, María Torres-Lacomba, Orlando Mayoral-Del Moral, Beatriz Sánchez-Sánchez, Jan Dommerholt, Carlos Gutiérrez-Ortega
BACKGROUND: Chronic non-specific neck pain is a frequent complaint. It is a recognized medical and socioeconomic problem and a frequent cause of job absenteeism. In recent years, case reports about myofascial pain syndrome (MPS) are emerging among patients suffering from pain. MPS is a regional pain syndrome characterized by myofascial trigger points (MTrP) in palpable taut bands of skeletal muscle that refer pain to a distance, and that can cause distant motor and autonomic effects. OBJECTIVE: To assess the prevalence of active and latent MTrPs in subjects suffering from chronic non-specific neck pain...
December 2016: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/28018472/concurrency-of-guillain-barre-syndrome-and-acute-transverse-myelitis-a-case-report-and-review-of-literature
#16
Orkun Tolunay, Tamer Çelik, Ümit Çelik, Mustafa Kömür, Zeynep Tanyeli, Abdurrahman Sönmezler
Guillain-Barré syndrome and acute transverse myelitis manifest as demyelinating diseases of the peripheral and central nervous system. Concurrency of these two disorders is rarely documented in literature. A 4-year-old girl presenting with cough, fever, and an impaired walking ability was admitted to hospital. She had no previous complaints in her medical history. A physical examination revealed lack of muscle strength of the lower extremities and deep tendon reflexes. MRI could not be carried out due to technical problems; therefore, both Guillain-Barré syndrome and acute transverse myelitis were considered for the diagnosis...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28012640/white-matter-integrity-and-symptom-dimensions-of-schizophrenia-a-diffusion-tensor-imaging-study
#17
Miriam H A Bopp, Rebecca Zöllner, Andreas Jansen, Bruno Dietsche, Axel Krug, Tilo T J Kircher
Impaired fiber bundle connectivity between brain regions is a key neuropathological finding in schizophrenia. Symptom dimensions in schizophrenia can be clustered into factor models. Single syndromes have been related to grey and white matter brain structure alterations. We associated all core syndromes of schizophrenia in a single patient group with changes in white matter integrity. Diffusion weighted images (3T MRI) and SAPS/SANS scores were measured in 26 male patients and 26 healthy controls. First, group differences in fractional anisotropy (FA) were calculated with TBSS...
December 21, 2016: Schizophrenia Research
https://www.readbyqxmd.com/read/27999530/disturbed-interhemispheric-functional-connectivity-rather-than-structural-connectivity-in-irritable-bowel-syndrome
#18
Rongfeng Qi, Chang Liu, Yifei Weng, Qiang Xu, Liya Chen, Fangyu Wang, Long J Zhang, Guang M Lu
Neuroimaging studies have demonstrated that irritable bowel syndrome (IBS)-a relapsing functional bowel disorder-presents with disrupted brain connections. However, little is known about the alterations of interhemispheric functional connectivity and underlying structural connectivity in IBS. This study combined resting-state functional magnetic resonance imaging (rs-fMRI) and diffusion tensor imaging (DTI) to investigate changes in interhemispheric coordination in IBS patients. Resting-state functional and structural magnetic resonance images were acquired from 65 IBS patients and 67 healthy controls (HCs; matched for age, sex and educational level)...
2016: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/27994400/in-vivo-confocal-microscopic-architecture-of-corneal-nerves-in-a-case-of-multiple-endocrine-neoplasia-type-2b
#19
Chintan Malhotra, Arun Kumar Jain, Bikram Thapa, Sabin Sahu
A detailed ocular examination and in vivo confocal microscopy (IVCM) using the Heidelberg retinal tomograph 3 with Rostock cornea module were performed in a patient with multiple endocrine neoplasia (MEN) 2b syndrome. Ocular findings included ptosis secondary to thickening of the lid margins, subconjunctival and perilimbal neuromas, and prominent corneal nerves extending up to the pupillary area. IVCM demonstrated structural alterations of both the main nerve trunks and the smaller branches. The main nerve trunks were grossly thickened while the smaller fibers were present in an intertwining manner in the anterior stroma...
October 2016: Middle East African Journal of Ophthalmology
https://www.readbyqxmd.com/read/27990371/retinal-nerve-fiber-layer-thickness-changes-in-obstructive-sleep-apnea-syndrome-a-systematic-review-and-meta-analysis
#20
Jia-Song Wang, Hua-Tao Xie, Ye Jia, Ming-Chang Zhang
AIM: To evaluate the retinal nerve fiber layer (RNFL) thickness changes in patients with obstructive sleep apnoea syndrome (OSAS), and detect possible prevalence of glaucoma in this population. METHODS: Comprehensive studies were conducted on the Cochrane Library, PubMed and Embase through March, 2015. Only studies that fit the selection criteria about RNFL and OSAS would be included. For the measures, we calculated the 95% confidence interval (CI) and weighted mean differences (WMD)...
2016: International Journal of Ophthalmology
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