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https://www.readbyqxmd.com/read/28107760/intraneural-ganglion-cyst-of-the-ulnar-nerve-in-an-unusual-location-a-case-report
#1
Ufuk Öztürk, Ahmet Salduz, Mehmet Demirel, Tuna Pehlivanoğlu, Sevan Sivacioğlu
INTRODUCTION: Intraneural ganglion cysts are benign, mucinous, non-neoplastic lesions of the peripheral nerves. While the most common location of intraneural ganglion cysts is the ulnar nerve and its branches, intraneural ganglion cyst involving the superficial branch of the ulnar nerve has not yet been reported. PRESENTATION OF CASE: A-25-year-old woman presented with pain and a palpable mass in the hypothenar region of the volar side of her right hand. Her neuromuscular examination was normal...
January 5, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28107544/cutaneous-hpv8-and-mmupv1-e6-proteins-target-the-notch-and-tgf-%C3%AE-tumor-suppressors-to-inhibit-differentiation-and-sustain-keratinocyte-proliferation
#2
Jordan M Meyers, Aayushi Uberoi, Miranda Grace, Paul F Lambert, Karl Munger
Cutaneous beta-papillomaviruses are associated with non-melanoma skin cancers that arise in patients who suffer from a rare genetic disorder, Epidermodysplasia verruciformis (EV) or after immunosuppression following organ transplantation. Recent studies have shown that the E6 proteins of the cancer associated beta human papillomavirus (HPV) 5 and HPV8 inhibit NOTCH and TGF-β signaling. However, it is unclear whether disruption of these pathways may contribute to cutaneous HPV pathogenesis and carcinogenesis...
January 20, 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28107480/drosophila-vps13-is-required-for-protein-homeostasis-in-the-brain
#3
Jan J Vonk, Wondwossen M Yeshaw, Francesco Pinto, Anita I E Faber, Liza L Lahaye, Bart Kanon, Marianne van der Zwaag, Antonio Velayos-Baeza, Raimundo Freire, Sven C van IJzendoorn, Nicola A Grzeschik, Ody C M Sibon
Chorea-Acanthocytosis is a rare, neurodegenerative disorder characterized by progressive loss of locomotor and cognitive function. It is caused by loss of function mutations in the Vacuolar Protein Sorting 13A (VPS13A) gene, which is conserved from yeast to human. The consequences of VPS13A dysfunction in the nervous system are still largely unspecified. In order to study the consequences of VPS13A protein dysfunction in the ageing central nervous system we characterized a Drosophila melanogaster Vps13 mutant line...
2017: PloS One
https://www.readbyqxmd.com/read/28107443/identification-of-the-pla2g6-c-1579g-a-missense-mutation-in-papillon-dog-neuroaxonal-dystrophy-using-whole-exome-sequencing-analysis
#4
Masaya Tsuboi, Manabu Watanabe, Kazumi Nibe, Natsuko Yoshimi, Akihisa Kato, Masahiro Sakaguchi, Osamu Yamato, Miyuu Tanaka, Mitsuru Kuwamura, Kazuya Kushida, Takashi Ishikura, Tomoyuki Harada, James Kenn Chambers, Sumio Sugano, Kazuyuki Uchida, Hiroyuki Nakayama
Whole exome sequencing (WES) has become a common tool for identifying genetic causes of human inherited disorders, and it has also recently been applied to canine genome research. We conducted WES analysis of neuroaxonal dystrophy (NAD), a neurodegenerative disease that sporadically occurs worldwide in Papillon dogs. The disease is considered an autosomal recessive monogenic disease, which is histopathologically characterized by severe axonal swelling, known as "spheroids," throughout the nervous system. By sequencing all eleven DNA samples from one NAD-affected Papillon dog and her parents, two unrelated NAD-affected Papillon dogs, and six unaffected control Papillon dogs, we identified 10 candidate mutations...
2017: PloS One
https://www.readbyqxmd.com/read/28107382/cross-breeding-is-inevitable-to-conserve-the-highly-inbred-population-of-puffin-hunter-the-norwegian-lundehund
#5
Anne Kettunen, Marc Daverdin, Turid Helfjord, Peer Berg
The Norwegian Lundehund is a highly endangered native dog breed. Low fertility and high frequency predisposition to intestinal disorder imply inbreeding depression. We assessed the genetic diversity of the Lundehund population from pedigree data and evaluated the potential of optimal contribution selection and cross-breeding in the long-term management of the Lundehund population. The current Norwegian Lundehund population is highly inbred and has lost 38.8% of the genetic diversity in the base population. Effective population size estimates varied between 13 and 82 depending on the method used...
2017: PloS One
https://www.readbyqxmd.com/read/28107375/narcolepsy-type-1-is-associated-with-a-systemic-increase-and-activation-of-regulatory-t-cells-and-with-a-systemic-activation-of-global-t-cells
#6
Michel Lecendreux, Guillaume Churlaud, Fabien Pitoiset, Armelle Regnault, Tu Anh Tran, Roland Liblau, David Klatzmann, Michelle Rosenzwajg
Narcolepsy is a rare neurologic disorder characterized by excessive daytime sleepiness, cataplexy and disturbed nocturnal sleep patterns. Narcolepsy type 1 (NT1) has been shown to result from a selective loss of hypothalamic hypocretin-secreting neurons with patients typically showing low CSF-hypocretin levels (<110 pg/ml). This specific loss of hypocretin and the strong association with the HLA-DQB1*06:02 allele led to the hypothesis that NT1 could be an immune-mediated pathology. Moreover, susceptibility to NT1 has recently been associated with several pathogens, particularly with influenza A H1N1 virus either through infection or vaccination...
2017: PloS One
https://www.readbyqxmd.com/read/28107209/nephropathic-cystinosis-an-update
#7
Koenraad R Veys, Mohamed A Elmonem, Fanny O Arcolino, Lambertus van den Heuvel, Elena Levtchenko
PURPOSE OF REVIEW: Over the past few decades, cystinosis, a rare lysosomal storage disorder, has evolved into a treatable metabolic disease. The increasing understanding of its pathophysiology has made cystinosis a prototype disease, delivering new insights into several fundamental biochemical and cellular processes. RECENT FINDINGS: In this review, we aim to provide an overview of the latest advances in the pathogenetic, clinical, and therapeutic aspects of cystinosis...
January 18, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28107107/title-tobacco-alcohol-and-drug-use-of-people-with-mood-and-anxiety-disorders-differential-impact-of-family-and-friends
#8
Eunji Nam, Sadaaki Fukui
OBJECTIVE: Substance use among people with mood and anxiety disorders is highly prevalent. The literature suggests that substance use among people with mood and anxiety disorders is linked to social relational factors, yet it has been rarely the case that studies explicitly examine the differential impact of family and friends. This study investigated the association between family relationships, friendships, and substance use among people with mood and anxiety disorders. METHODS: Using the National Survey of American Life, structural equation modeling tested the unique effects of family relationships and friendships on tobacco, alcohol, and drug use (n = 1,076)...
January 20, 2017: Journal of Dual Diagnosis
https://www.readbyqxmd.com/read/28106687/superficial-parotidectomy-plane-for-debulking-surgery-in-kimura-disease
#9
Rohit Sharma
Kimura disease (KD) is a rare chronic inflammatory disorder of unknown etiology representing as solitary or multiple subcutaneous nodules predominantly in the head and neck region. Common sites of involvement are preauricular region, forehead and scalp. The soft tissue localization is often associated with regional lymphadenopathy and enlargement of the major salivary gland. The authors report a patient with KD involving the right parotid and left temporal region managed successfully at our center using a combination of debulking superficial parotidectomy and medicinal therapy...
January 18, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28106024/-a-rare-cause-of-2-1-atrioventricular-block-and-congestive-heart-failure-in-preterm-infants-hypocalcemia
#10
Emine Azak, Hatice Tatar Aksoy, Handan Ünsal, İbrahim İlker Çetin
Atrioventricular (AV) block in the neonatal period is a rare disorder. It is frequently associated with underlying structural congenital heart disease and maternal lupus. Presently described is premature baby who developed 2:1 AV block and congestive heart failure due to hypocalcemia. Dramatic clinical improvement was observed following treatment of intravenous 10% calcium gluconate. Therefore, it is suggested that serum calcium level of newborns with AV block and congestive heart failure be measured.
January 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28105358/primary-autoimmune-myelofibrosis-with-severe-thrombocytopenia-mimicking-immune-thrombocytopenia-a-case-report
#11
Jian Hua, Shu Matayoshi, Tomoyuki Uchida, Morihiro Inoue, Masao Hagihara
Patients presenting with bone marrow fibrosis not accompanied by well-established autoimmune diseases, such as systemic lupus erythematosus, or malignant diseases, are considered to have primary autoimmune myelofibrosis (AIMF). Primary AIMF has been reported to follow a benign course and responds well to treatment with immunosuppressive agents. Immune thrombocytopenia (ITP) is also an autoimmune disorder characterized by antiplatelet-antibody-mediated thrombocytopenia in the absence of other causes of thrombocytopenia...
December 2016: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28105131/immunoglobulin-g4-related-acquired-hemophilia-a-case-report
#12
Xiaoyan Li, Wei Duan, Xiang Zhu, Jianying Xu
Acquired hemophilia A (AHA) is a relatively rare and life-threatening bleeding disorder whose pathogenesis is not completely understood. The present study reports a rare case of immunogubulin (IgG)4-related AHA with multisystemic involvement. A 55-year old male patient presented with symptoms of bronchial asthma and multiple subdermal hematomas. Chest computed tomography showed multiple diffuse nodular lesions with thickening of bronchovascular bundles, and scattered high-density spots in both lung lobes. Laboratory investigations showed increased activated partial prothrombin time (120...
December 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28104946/mobious-syndrome-mr-findings
#13
Maskal Revanna Srinivas, Dhulappa Mudabasappagol Vaishali, Kadaba Shamachar Vedaraju, Bangalore Rangaswamy Nagaraj
Möbius syndrome is an extremely rare congenital disorder. We report a case of Möbius syndrome in a 2-year-old girl with bilateral convergent squint and left-sided facial weakness. The characteristic magnetic resonance imaging (MRI) findings of Möbius syndrome, which include absent bilateral abducens nerves and absent left facial nerve, were noted. In addition, there was absence of left anterior inferior cerebellar artery (AICA) and absence of bilateral facial colliculi. Clinical features, etiology, and imaging findings are discussed...
October 2016: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/28104248/continuous-hemifacial-myokymia-as-the-revealing-symptom-of-demyelinating-disease-of-the-cns
#14
Frédéric London, Nawal Hadhoum, Hélène Zéphir, Patrick Vermersch, Olivier Outteryck
Facial myokymia (FM) is an uncommon involuntary movement, disorder of the musculature supplied by the facial nerve and, characterized by spontaneous undulating, vermicular movements beneath the, skin. It has rarely been described as a form of presentation of multiple, sclerosis. We describe a 31-year-old man presenting with continuous, unilateral facial myokymia as the revealing symptom of a demyelinating, disorder of central nervous system. Brain magnetic resonance imaging, showed an ipsilateral pontine T2/FLAIR hyperintensity close to the, postgenu course of facial nerve, suggestive of a segmental demyelination, of facial nerve causing facial nuclear hyperactivity and resulting in FM...
January 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28104063/sleep-duration-of-inpatients-with-a-depressive-disorder-associations-with-age-subjective-sleep-quality-and-cognitive-complaints
#15
Matthias J Müller, Christiane Olschinski, Bernd Kundermann, Nicole Cabanel
Sleep complaints and sleep disturbances are common in depression; however, the association of sleep duration and subjective sleep quality has been rarely investigated. Thus, subjective sleep quality and sleep duration were analyzed in depressed inpatients. Questionnaire data comprising clinical and sleep-related questions were sampled over a one-year period from adult inpatients with depressive syndromes. Sleep duration and items related to sleep quality were analyzed by means of group comparisons (sleep duration categories) and correlation analyses...
February 2017: Archives of Psychiatric Nursing
https://www.readbyqxmd.com/read/28102596/delineation-of-ehlers-danlos-syndrome-phenotype-due-to-the-c-934c-t-p-arg312cys-mutation-in-col1a1-report-on-a-three-generation-family-without-cardiovascular-events-and-literature-review
#16
Marina Colombi, Chiara Dordoni, Marina Venturini, Arianna Zanca, Piergiacomo Calzavara-Pinton, Marco Ritelli
Classical Ehlers-Danlos syndrome (cEDS) is a rare connective tissue disorder primarily characterized by hyperextensible skin, defective wound healing, abnormal scars, easy bruising, and generalized joint hypermobility; arterial dissections are rarely observed. Mutations in COL5A1 and COL5A2 encoding type V collagen account for more than 90% of the patients so far characterized. In addition, cEDS phenotype was reported in a small number of patients carrying the c.934C>T mutation in COL1A1 that results in an uncommon substitution of a non-glycine residue in one Gly-Xaa-Yaa repeat of the pro-α1(I)-chain p...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102337/deep-brain-stimulation-for-myoclonus-dystonia-syndrome-with-double-mutations-in-dyt1-and-dyt11
#17
Jia-Wei Wang, Ji-Ping Li, Yun-Peng Wang, Xiao-Hua Zhang, Yu-Qing Zhang
Myoclonus-dystonia syndrome (MDS) is a rare autosomal dominant inherited disorder characterized by the presentation of both myoclonic jerks and dystonia. Evidence is emerging that deep brain stimulation (DBS) may be a promising treatment for MDS. However, there are no studies reporting the effects of DBS on MDS with double mutations in DYT1 and DYT11. Two refractory MDS patients with double mutations were treated between 2011 and 2015 in our center. Genetic testing for DYT1 and DYT11 was performed through polymerase chain reaction amplification and direct sequencing of the specific exons of genes...
January 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28102150/ultra-rare-genetic-variation-in-common-epilepsies-a-case-control-sequencing-study
#18
(no author information available yet)
BACKGROUND: Despite progress in understanding the genetics of rare epilepsies, the more common epilepsies have proven less amenable to traditional gene-discovery analyses. We aimed to assess the contribution of ultra-rare genetic variation to common epilepsies. METHODS: We did a case-control sequencing study with exome sequence data from unrelated individuals clinically evaluated for one of the two most common epilepsy syndromes: familial genetic generalised epilepsy, or familial or sporadic non-acquired focal epilepsy...
February 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28101778/eight-novel-mut-loss-of-function-missense-mutations-in-chinese-patients-with-isolated-methylmalonic-academia
#19
Lian-Shu Han, Zhuo Huang, Feng Han, Yu Wang, Zhu-Wen Gong, Xue-Fan Gu
BACKGROUND: Isolated methylmalonic acidemia is a rare autosomal recessive metabolic disorder mostly caused by mutations in the methylmalonyl coenzyme A mutase (MCM) gene (MUT). This study aimed to verify whether missense mutations in MUT in Chinese patients affect the stability and enzymatic activity of MCM. METHODS: Eight Chinese patients were identified with novel mutations. Plasmids carrying the wild-type and mutated MUT cDNA were constructed and transfected into HEK293T cells for functional analyses...
January 19, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28101623/-102-patients-with-suspected-myocarditis-clinical-presentation-diagnostics-therapy-and-prognosis
#20
S Streuber, F Noack, D Stoevesandt, A Schlitt
INTRODUCTION: Myocarditis is a disease which is difficult to diagnose and which includes a risk of the development of dilated cardiomyopathy and sudden cardiac death. METHODS AND PATIENTS: In this study 102 patients were included from the time period 2003-2013 after diagnosis or suspected diagnosis of myocarditis in the department of internal medicine at the University Hospital Halle (Saale). RESULTS: Of the study participants 77.5% were male and the average age was 35...
January 18, 2017: Herz
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