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https://www.readbyqxmd.com/read/28227043/study-of-functional-brain-homogeneity-in-female-patients-with-major-depressive-disorder
#1
X Zhang, Y Tang, Y Zhu, Y Li, S Tong, X Zhang, Y Tang, Y Zhu, Y Li, S Tong, Y Li, Y Zhu, S Tong, X Zhang, Y Tang
Women are at a twofold higher risk of developing major depressive disorder (MDD) than that of men. However, the investigation of female MDD patients functional brain activity is rare and the detailed mechanism remains unclear. The present work is to explore the altered spontaneous neural activity measured with regional homogeneity (ReHo) in female MDD patients using resting-state functional magnetic resonance imaging (fMRI) technique. Twelve MDD females and twelve matched healthy participants were included in the study...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28226398/dysregulation-of-interleukin-5-expression-in-familial-eosinophilia
#2
Senbagavalli Prakash Babu, Yun-Yun K Chen, Sandra Bonne-Annee, Jun Yang, Irina Maric, Timothy G Myers, Thomas B Nutman, Amy D Klion
BACKGROUND: Familial eosinophilia (FE) is a rare autosomal dominant inherited disorder characterized by the presence of lifelong peripheral eosinophilia (>1500/μL). Mapped to chromosome 5q31-q33, the genetic cause of FE is unknown, and prior studies have failed to demonstrate a primary abnormality in the eosinophil lineage. OBJECTIVE: The aim of the present study was to identify the cells driving the eosinophilia in FE. METHODS: Microarray analysis and real-time PCR were used to examine transcriptional differences in peripheral blood mononuclear cells (PBMC), and in purified cell subsets from affected and unaffected family members belonging to a single large kindred...
February 22, 2017: Allergy
https://www.readbyqxmd.com/read/28226348/-the-key-points-of-prevention-for-special-surgical-complications-after-radical-operation-of-gastric-cancer
#3
Hao Xu, Weizhi Wang, Panyuan Li, Diancai Zhang, Li Yang, Zekuan Xu
Incidence of gastric cancer is high in China and standard radical operation is currently the main treatment for gastric cancer. Postoperative complications, especially some special complications, can directly affect the prognosis of patients, even result in the increase of mortality. But the incidences of these special complications are low, so these complications are often misdiagnosed and delayed in treatment owing to insufficient recognition of medical staff. These special complications include (1) Peterson hernia: It is an abdominal hernia developed in the space between Roux loop and transverse colon mesentery after Roux-Y reconstruction of digestive tract...
February 25, 2017: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/28226319/oral-and-sublingual-immunotherapy-potential-causes-for-eosinophilic-gastrointestinal-disorders
#4
Delara Babaie, Mehrnaz Mesdaghi, Makoto Nishino, Mahboubeh Mansouri, Motohiro Ebisawa
Food allergy is a common health problem worldwide, with increasing prevalence during recent decades. The only approved treatments for food allergy are food avoidance and administration of emergency medications in case of accidental exposure, which negatively affects patients' quality of life, so new treatments are highly desirable. Different food immunotherapy modalities have recently been used, with variable success rates in the induction of desensitization and tolerance, and different numbers and types of adverse reactions...
February 23, 2017: International Archives of Allergy and Immunology
https://www.readbyqxmd.com/read/28226077/superficial-siderosis-of-the-central-nervous-system-is-a-rare-and-possibly-underdiagnosed-disorder
#5
Yara Dadalti Fragoso, Tarso Adoni, Joseph Bruno Bidin Brooks, Sidney Gomes, Marcus Vinicius Magno Goncalves, Cassio Lemos Jovem, Andre Palma da Cunha Matta, Joao Filipe Oliveira, Fabio Siquinelli, Carlos Bernardo Tauil, Guilherme Navarro Troiani, Paulo Roberto Wille
Methods: Series of cases collected from Brazilian centers. Results: We studied 13 cases of patients presenting with progressive histories of neurological dysfunction caused by SS-CNS. The most frequent clinical findings in these patients were progressive gait ataxia, hearing loss, hyperreflexia and cognitive dysfunction. The diagnoses of SS-CNS were made seven months to 30 years after the disease onset. Conclusion: SS-CNS is a rare disease that may remain undiagnosed for long periods...
February 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28225726/computer-assisted-retinal-vessel-tortuosity-evaluation-in-novel-mutation-fabry-disease-towards-new-prognostic-markers
#6
Irene San Román, María-Elena Rodríguez, Orsola Caporossi, Claudia Zoppetti, Andrea Sodi, Alessandro Mecocci, David López, Beatriz Rodríguez, Juan-Ramón Gimeno
PURPOSE: Fabry disease is a rare lysosomal storage disorder with systemic involvement. The authors report on a large Fabry family with GLA p.M187R mutation and exhaustive ophthalmologic assessment. METHODS: Comprehensive systemic evaluation and genetic diagnosis were performed. Ophthalmologic evaluation included intraocular pressure/visual acuity measurement, refractometry, slit lamp examination, retinography, and optical coherence tomography. Three parameters quantified retinal vessel tortuosity: sum of angle metrics, product of angle distance, and triangular index...
March 2017: Retina
https://www.readbyqxmd.com/read/28225293/rituximab-associated-progressive-multifocal-leukoencephalopathy
#7
Juraj Sokol, Lenka Lisá, Jana Zeleňáková, Tomáš Balhárek, Ivana Plameňová, Ján Staško, Peter Kubisz
The definition "Progressive Multifocal Leukoencephalopathy" (PML) was first used in 1958 to describe a fatal demyelinating central nervous system (CNS) disease in patients with lymphoproliferative disorders. In 1971, the virus responsible for the disease was isolated and named John Cunningham virus (JCV). We present a rare case of a 62-year-old male with chronic lymphocytic leukemia and PML. In our work, we discuss the diagnostic and therapeutic challenges and offer suggestions for preventing PML development...
2017: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/28225048/thiamine-deficiency-oxidative-metabolic-pathways-and-ethanol-induced-neurotoxicity-how-poor-nutrition-contributes-to-the-alcoholic-syndrome-as-marchiafava-bignami-disease
#8
REVIEW
L M P Fernandes, F R Bezerra, M C Monteiro, M L Silva, F R de Oliveira, R R Lima, E A Fontes-Júnior, C S F Maia
Ethanol is an important risk factor for the occurrence of several brain disorders that depend on the amount, period and frequency of its consumption. Chronic use of ethanol often leads to the development of neurodegenerative syndromes, which cause morphological and functional impairments such as foetal alcohol syndrome in newborns exposed to ethanol during pregnancy, Wernicke-Korsakoff Syndrome and, more rarely, Marchiafava-Bignami disease (MBD). MBD is characterized by primary degeneration of the corpus callosum, without inflammation and is associated with oxidative stress and hypovitaminosis, as well as altered mental status, to mention dementia, seizures, depression and so on...
February 22, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28224875/-thiamine-in-patients-with-alcohol-use-disorder-and-wernicke-s-encephalopathy
#9
D J Brinkman, J K Bekema, M A Kuijenhoven, J W Wijnia, M J H J Dekker, M A van Agtmael
- Patients with alcohol use disorder frequently have a thiamine deficiency.- A potential life-threatening complication of thiamine deficiency is Wernicke's encephalopathy.- Since it is clinically difficult to recognize Wernicke's encephalopathy, this condition is often treated inadequately. - Early supplementation of thiamine is important to avoid irreversible neurological damage. - There are differences between the Dutch guidelines regarding the supplementation of thiamine for the treatment of alcoholic use disorder, and those for Wernicke's encephalopathy...
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/28224622/slc2a3-single-nucleotide-polymorphism-and-duplication-influence-cognitive-processing-and-population-specific-risk-for-attention-deficit-hyperactivity-disorder
#10
Sören Merker, Andreas Reif, Georg C Ziegler, Heike Weber, Ute Mayer, Ann-Christine Ehlis, Annette Conzelmann, Stefan Johansson, Clemens Müller-Reible, Indrajit Nanda, Thomas Haaf, Reinhard Ullmann, Marcel Romanos, Andreas J Fallgatter, Paul Pauli, Tatyana Strekalova, Charline Jansch, Alejandro Arias Vasquez, Jan Haavik, Marta Ribasés, Josep Antoni Ramos-Quiroga, Jan K Buitelaar, Barbara Franke, Klaus-Peter Lesch
BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurodevelopmental disorder with profound cognitive, behavioral, and psychosocial impairments with persistence across the life cycle. Our initial genome-wide screening approach for copy number variants (CNVs) in ADHD implicated a duplication of SLC2A3, encoding glucose transporter-3 (GLUT3). GLUT3 plays a critical role in cerebral glucose metabolism, providing energy for the activity of neurons, which, in turn, moderates the excitatory-inhibitory balance impacting both brain development and activity-dependent neural plasticity...
February 22, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28224502/pyoderma-gangrenosum-an-update-on-pathophysiology-diagnosis-and-treatment
#11
REVIEW
Afsaneh Alavi, Lars E French, Mark D Davis, Alain Brassard, Robert S Kirsner
Pyoderma gangrenosum (PG) is a rare inflammatory neutrophilic disorder with prototypical clinical presentations. Its pathophysiology is complex and not fully explained. Recent information regarding the genetic basis of PG and the role of auto-inflammation provides a better understanding of the disease and new therapeutic targets. PG equally affects patients of both sexes and of any age. Uncontrolled cutaneous neutrophilic inflammation is the cornerstone in a genetically predisposed individual. Multimodality management is often required to reduce inflammation, optimize wound healing, and treat underlying disease...
February 21, 2017: American Journal of Clinical Dermatology
https://www.readbyqxmd.com/read/28224046/eighth-international-chorea-acanthocytosis-symposium-summary-of-workshop-discussion-and-action-points
#12
Samuel S Pappas, Juan Bonifacino, Adrian Danek, William T Dauer, Mithu De, Lucia De Franceschi, Gilbert DiPaolo, Robert Fuller, Volker Haucke, Andreas Hermann, Benoit Kornmann, Bernhard Landwehrmeyer, Johannes Levin, Aaron M Neiman, Dobrila D Rudnicki, Ody Sibon, Antonio Velayos-Baeza, Jan J Vonk, Ruth H Walker, Lois S Weisman, Roger L Albin
Chorea-Acanthocytosis (ChAc) is a rare hereditary neurological disorder characterized by abnormal movements, red blood cell pathology, and progressive neurodegeneration. Little is understood of the pathogenesis of ChAc and related disorders (collectively Neuroacanthocytosis). The Eighth International Chorea-Acanthocytosis Symposium was held in May 2016 in Ann Arbor, MI, USA, and focused on molecular mechanisms driving ChAc pathophysiology. Accompanying the meeting, members of the neuroacanthocytosis research community and other invited scientists met in a workshop to discuss the current understanding and next steps needed to better understand ChAc pathogenesis...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28223895/rosacea-fulminans-precipitated-by-acute-stress-a-case-report-describing-an-integrative-approach-for-a-patient-reluctant-to-use-isotretinoin
#13
Patrick Veerkamp, Nico Mousdicas, Robert Bednarek
CONTEXT: Rosacea fulminans is a rare skin disorder with a multifactorial etiology. Stress is one of the common precipitating factors of this condition but is not often targeted in treatment. Isotretinoin is considered part of the first-line therapy for this condition but, in cases where its use is restricted, other therapeutic interventions as part of an integrative approach may be effective. PATIENT CONCERNS: A 38-y-old female presented with rosacea fulminans brought on by an acutely stressful event...
December 2016: Integrative Medicine
https://www.readbyqxmd.com/read/28223355/glial-fibrillary-acidic-protein-exhibits-altered-turnover-kinetics-in-a-mouse-model-of-alexander-disease
#14
Laura R Moody, Gregory A Barrett-Wilt, Michael R Sussman, Albee Messing
Mutations in the astrocyte-specific intermediate filament, glial fibrillary acidic protein (GFAP), lead to the rare and fatal disorder, Alexander disease (AxD). A prominent feature of the disease is aberrant accumulation of GFAP. It has been proposed that this accumulation occurs due to an increase in gene transcription coupled with impaired proteasomal degradation, yet this hypothesis remains untested. We therefore sought to directly investigate GFAP turnover in a mouse model of AxD that is heterozygous for a disease-causing point mutation (GfapR236H/+) (and thus expresses both wild-type and mutant protein)...
February 21, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28222949/rare-bleeding-disorders-old-diseases-in-the-era-of-novel-options-for-therapy
#15
Tami Livnat, Assaf Arie Barg, Sarina Levy-Mendelovich, Gili Kenet
Rare diseases are defined as life-threatening or chronically debilitating diseases with a prevalence of less than one per 2000 according to the European Union or one per 1250 according to the USA. Congenital rare bleeding disorders RBD are reported in most populations, with incidence varying from 1 in 5000 (Hemophilia A), 1:30,000 (Hemophilia B) to much rarer (1:500,000 for FVII deficiency, 1-3 million for Prothrombin or FXIII deficiency). Acquired Hemophilia A is also a rare bleeding disorder with estimated frequency of 1 in million...
February 14, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28222887/rare-er-protein-misfolding-mistrafficking-disorders-therapeutic-developments
#16
REVIEW
Ramanath Narayana Hegde, Advait Subramanian, Prathyush Pothukuchi, Seetharaman Parashuraman, Alberto Luini
The presence of a functional protein at the appropriate location in the cell is the result of the processes of transcription, translation, folding and trafficking to the correct destination. There are numerous diseases that are caused by protein misfolding, mainly due to mutations in the respective gene. The consequences of this misfolding may be that proteins effectively lose their function, either by being removed by the cellular quality control machinery or by accumulating at the incorrect intracellular or extracellular location...
February 9, 2017: Tissue & Cell
https://www.readbyqxmd.com/read/28222692/hashimoto-s-encephalitis-associated-with-ampar2-antibodies-a-case-report
#17
Mingqin Zhu, Xuefan Yu, Caiyun Liu, Chenchen Duan, Chunxiao Li, Jie Zhu, Ying Zhang
BACKGROUND: Hashimoto's encephalitis (HE) is a rare neurological complication of Hashimoto's thyroiditis (HT), while limbic encephalitis (LE) is an autoimmune inflammatory disorder frequently associated with anti-neuronal antibodies. The glutamate receptor α-amino-3-hydroxy-5-methyl-4-isoxazole-propionic acid receptor (AMPAR) is important for synaptic transmission, memory, and learning. The etiology of HE remains unclear. We present a case of HE with antibodies to AMPAR2 both in the serum and cerebrospinal fluid...
February 21, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28222339/everyday-memory-impairment-in-patients-with-temporal-lobe-epilepsy-caused-by-hippocampal-sclerosis
#18
Patrícia Rzezak, Ellen Marise Lima, Ana Carolina Gargaro, Erica Coimbra, Silvia de Vincentiis, Tonicarlo Rodrigues Velasco, João Pereira Leite, Geraldo F Busatto, Kette D Valente
OBJECTIVE: Patients with temporal lobe epilepsy caused by hippocampal sclerosis (TLE-HS) have episodic memory impairment. Memory has rarely been evaluated using an ecologic measure, even though performance on these tests is more related to patients' memory complaints. We aimed to measure everyday memory of patients with TLE-HS to age- and gender-matched controls. METHODS: We evaluated 31 patients with TLE-HS and 34 healthy controls, without epilepsy and psychiatric disorders, using the Rivermead Behavioral Memory Test (RBMT), Visual Reproduction (WMS-III) and Logical Memory (WMS-III)...
February 18, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28221306/whole-exome-sequencing-identifies-atypical-welander-distal-myopathy-in-patient
#19
Jennifer Gass, Patrick Blackburn, Jessica Jackson, Kimberly Harris, Duygu Selcen, Elliot Dimberg, Paldeep Atwal
Welander distal myopathy is a rare autosomal dominant disorder characterized by muscle weakness in the hands and feet. Exome sequencing of affected families discovered a segregating p.Glu384Lys pathogenic variant in TIA-1 as the main genetic cause of Welander distal myopathy. TIA-1 encodes an RNA-binding protein which serves as a key component of stress granules. This protein also regulates splicing and translation of mRNA. Our patient developed progressive weakness in his hands and feet during his late 40s that was misdiagnosed as a neuropathy that caused muscle atrophy...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28221268/moyamoya-syndrome-associated-with-hereditary-spherocytosis-an-emerging-clinical-entity
#20
Eleanor Gait-Carr, Daniel J A Connolly, David King
Moyamoya syndrome is an unusual cerebrovascular disorder, which has rarely been reported in association with hereditary spherocytosis. We present the case of a 6-year-old boy with hereditary spherocytosis who was diagnosed with Moyamoya syndrome following a stroke. We discuss why these conditions may coexist and briefly outline the management of such children.
February 17, 2017: Journal of Pediatric Hematology/oncology
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