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https://www.readbyqxmd.com/read/29331051/fecal-incontinence-knowledge-attitudes-and-help-seeking-behaviors-among-community-dwelling-adults-in-korea
#1
Hee-Kyung Joh, Moo-Kyung Seong, Hyun-Jun Ahn
OBJECTIVES: Fecal incontinence (FI) is a common debilitating disorder that tends to be underreported. Although low health literacy likely contributes to the underreporting, studies on FI knowledge among the general population remain scarce. We investigated how FI knowledge is associated with attitudes and help-seeking behaviors. METHODS: We conducted a cross-sectional survey among community-dwelling adults undergoing national health screening in Korea. A structured, self-administered questionnaire was used to assess FI knowledge, attitudes, and help-seeking behaviors...
January 13, 2018: Neurourology and Urodynamics
https://www.readbyqxmd.com/read/29329993/pulmonary-arterial-hypertension-in-four-patients-treated-by-leflunomide
#2
Valentin Coirier, Alain Lescoat, Céline Chabanne, Maxime Fournet, Guillaume Coiffier, Stéphane Jouneau, Elisabeth Polard, Patrick Jégo
Pulmonary arterial hypertension (PAH) is a rare disorder that can be drug-induced, mostly following treatment by appetite-suppressant drugs. We report four cases of patients who developed PAH following a treatment by leflunomide for rheumatoid arthritis, psoriatic arthritis or undetermined connective tissue disease. All patients described a progressive dyspnea from grade II to IV of NYHA classification; clinical examination found signs of heart failure. PAH was finally diagnosed and confirmed by right heart catheterisation...
January 9, 2018: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/29329516/bilateral-giant-retinal-tears-in-osteogenesis-imperfecta
#3
Paolo Scollo, Martin Paul Snead, Allan James Richards, Rebecca Pollitt, Catherine DeVile
BACKGROUND: Osteogenesis imperfecta (OI) is a rare primarily autosomal dominant condition in which the connective tissues of bones, ligaments and sclerae do not form properly. Typically, mutations in COL1A1 and COL1A2 genes lead to the defective formation or quantity of type I collagen, the principle matrix in these tissues. Molecular genetic studies have now elucidated multiple genetic subtypes of the disorder but little literature exists on the risk of retinal tears and detachments in OI...
January 12, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29329145/orthopaedic-management-of-leg-length-discrepancy-in-proteus-syndrome-a-case-series
#4
Molly M Crenshaw, Cara G Goerlich, Lauren E Ivey, Julie C Sapp, Kim M Keppler-Noreuil, Allison C Scott, Leslie G Biesecker, Laura L Tosi
INTRODUCTION: Proteus syndrome (PS) is a rare mosaic disorder comprising asymmetric bony and soft tissue overgrowth leading to significant morbidity. Placement of growth inhibition hardware with subsequent epiphyseal arrest improves leg-length and angular deformities in pediatric patients without PS. The purpose of this study was to review the surgical approach and present outcomes, complications, and recommendations in 8 patients with PS and leg-length discrepancy (LLD). METHODS: We conducted a retrospective chart review of 8 patients with PS whose primary reason for surgery was LLD...
January 11, 2018: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/29329106/genetic-mutations-associated-with-neonatal-diabetes-mellitus-in-omani-patients
#5
Aisha Al Senani, Nishath Hamza, Hanan Al Azkawi, Manal Al Kharusi, Nashat Al Sukaiti, Maryam Al Badi, Moza Al Yahyai, Matthew Johnson, Elisa De Franco, Sarah Flanagan, Andrew Hattersley, Sian Ellard, Waad-Allah Mula-Abed
BACKGROUND: Neonatal diabetes mellitus (NDM) is a rare disorder worldwide where diabetes is diagnosed in the first 6 months of life. However, Oman has a relatively high incidence of NDM. METHODS: In this study, we investigated the genetic etiologies underlying NDM and their prevalence in Oman. We collected a cohort of 24 NDM patients, with and without genetic diagnosis, referred to our center from 2007 to 2015. All patients without a genetic diagnosis were tested for mutations in 23 NDM-associated genes using a custom-targeted next-generation sequencing (NGS) panel and methylation analysis of the 6q24 locus...
January 12, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29327517/sheehan-s-syndrome-the-most-common-cause-of-panhypopituitarism-at-moderate-altitude-a-sub-himalayan-study
#6
Jatinder Mokta, Asha Ranjan, Surinder Thakur, Rajesh Bhawani, Kiran K Mokta, Jai Bharat Sharma, Manish Kumar
Background: Panhypopituitarism is a rare disorder with varied clinical presentation having various etiologies. Sheehan's syndrome (SS) is decreasing in frequency worldwide and is a rare cause of panhypopituitarism in developed nations. Methodology: A retrospective study done between May 2011 and May 2015 in tertiary care hospital. We reviewed the records of patients with hypopituitarism. Clinical features, hormonal profile and radiological investigations noted. Results: Total 14 patients of panhypopituitarism included with average duration of symptoms 1...
December 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29326866/a-review-of-developmental-considerations-in-human-laboratory-alcohol-research
#7
Christian S Hendershot, Christina N Nona
PURPOSE OF REVIEW: Human laboratory studies involving alcohol administration have generated critical knowledge about individual differences in risk for alcohol use disorder (AUD), but have primarily involved adult populations and cross-sectional research designs. Ethical constraints have largely precluded human laboratory alcohol research in adolescence, and prospective studies have been rare. This paper provides an overview of developmental considerations in human laboratory alcohol research, with a focus on studies conducted with youth...
December 2017: Current Addiction Reports
https://www.readbyqxmd.com/read/29326801/waldenstrom-s-macroglobulinemia-an-update
#8
REVIEW
Maddalena Mazzucchelli, Anna Maria Frustaci, Marina Deodato, Roberto Cairoli, Alessandra Tedeschi
Waldenstrom Macroglobulinemia is a rare lymphoproliferative disorder with distinctive clinical features. Diagnostic and prognostic characterisation in WM significantly changed with the discovery of two molecular markers: MYD88 and CXCR4. Mutational status of these latter influences both clinical presentation and prognosis and demonstrated therapeutic implications. Treatment choice in Waldenstrom disease is strictly guided by patients age and characteristics, specific goals of therapy, the necessity for rapid disease control, the risk of treatment-related neuropathy, disease features, the risk of immunosuppression or secondary malignancies and potential for future autologous stem cell transplantation...
2018: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/29326495/acute-dystonic-reaction-leading-to-lingual-hematoma-mimicking-angioedema
#9
Özgür Sezer, Ali Attila Aydin, Sedat Bilge, Fatih Arslan, Hasan Arslan
Lingual hematoma is a severe situation, which is rare and endangers the airway. It can develop due to trauma, vascular abnormalities, and coagulopathy. Due to its sudden development, it can be clinically confused with angioedema. In patients who applied to the doctor with complaints of a swollen tongue, lingual hematoma can be confused with angioedema, in particular, at the beginning if the symptoms occurred after drug use. It should especially be considered that dystonia in the jaw can present as drug-induced hyperkinetic movement disorder...
July 2017: Indian Journal of Pharmacology
https://www.readbyqxmd.com/read/29326405/-the-relationships-among-chemotherapy-induced-nausea-and-vomiting-cinv-non-pharmacological-coping-methods-and-nutritional-status-in-patients-with-gynecologic-cancer
#10
Haerim Lee, Smi Choi-Kwon
PURPOSE: Chemotherapy-induced nausea and vomiting (CINV) can cause severe malnutrition. However, relationships between CINV levels, non-pharmacological coping methods, and nutritional status of female cancer patients have rarely been investigated. Therefore, this study aimed to analyze their relationships in gynecologic cancer patients. METHODS: Participants receiving a highly and moderately emetogenic chemotherapy were recruited. The level of CINV was assessed using a numeric rating scale...
December 2017: Journal of Korean Academy of Nursing
https://www.readbyqxmd.com/read/29325982/multiple-cerebral-infarct-with-cerebral-vasculitis-in-a-young-patient-with-ulcerative-colitis
#11
Maeng Real Park, Mun Ki Min, Ji Ho Ryu, Dae Sub Lee, Kang Ho Lee
Ulcerative colitis (UC) is a chronic and debilitating disorder, characterized by inflammation of the colonic mucosa. UC can be considered a systemic disorder but UC-related manifestations in the central nervous system (CNS) are quite rare. A 29-year-old man was admitted to the emergency department with repeated generalized tonic-clonic (GTC) type seizures. Based on brain CT, brain metastasis or hemorrhagic infarct was suspected. Diffusion-weighted image of brain MRI showed high signal in the left thalamus and heterogenous enhancement in the right parietal and left frontal lobes...
January 4, 2018: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29325902/which-data-should-be-tracked-in-forward-dynamic-optimisation-to-best-predict-muscle-forces-in-a-pathological-co-contraction-case
#12
Colombe Bélaise, Benjamin Michaud, Fabien Dal Maso, Katja Mombaur, Mickaël Begon
The choice of the cost-function for predicting muscle forces during a movement remains a challenge, especially in patients with neuromuscular disorders. Forward dynamics-based optimisations mainly track joint kinematics or torques, combined with a least-excitation criterion. Tracking marker trajectories and/or electromyography (EMG) has rarely been proposed. Our objective was to determine the best tracking objective-function to accurately predict the upper-limb muscle forces. A musculoskeletal model was created and EMG was simulated to obtain a reference movement - a shoulder abduction...
January 4, 2018: Journal of Biomechanics
https://www.readbyqxmd.com/read/29325623/tourette-disorder-and-other-tic-disorders
#13
Thomas V Fernandez, Matthew W State, Christopher Pittenger
Tourette disorder is a developmental neuropsychiatric condition characterized by vocal and motor tics that can range in severity from mild to disabling. It represents one end of a spectrum of tic disorders and is estimated to affect 0.5-0.7% of the population. Accumulated evidence supports a substantial genetic contribution to disease risk, but the identification of genetic variants that confer risk has been challenging. Positive findings in candidate gene association studies have not replicated, and genomewide association studies have not generated signals of genomewide significance, in large part because of inadequate sample sizes...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325620/primary-familial-brain-calcifications
#14
Beatriz Quintáns, Joao Oliveira, María-Jesús Sobrido
Primary familial brain calcification (PFBC) is a neurodegenerative disease with characteristic calcium deposits in the basal ganglia and other brain regions. The disease usually presents as a combination of abnormal movements, cognitive and psychiatric manifestations, clinically indistinguishable from other adult-onset neurodegenerative disorders. The differential diagnosis must be established with genetic and nongenetic disorders that can also lead to calcium deposits in encephalic structures. In the past years PFBC causal mutations have been discovered in genes related to calcium phosphate homeostasis (SLC20A2, XPR1) and in genes involved with endothelial function and integrity (PDGFB, PDGFRB)...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325618/neurodegeneration-with-brain-iron-accumulation
#15
Susan J Hayflick, Manju A Kurian, Penelope Hogarth
Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of disorders affecting children and adults. These rare disorders are often first suspected when increased basal ganglia iron is observed on brain magnetic resonance imaging. For the majority of NBIA disorders the genetic basis has been delineated, and clinical testing is available. The four most common NBIA disorders include pantothenate kinase-associated neurodegeneration (PKAN) due to mutations in PANK2, phospholipase A2-associated neurodegeneration caused by mutation in PLA2G6, mitochondrial membrane protein-associated neurodegeneration from mutations in C19orf12, and beta-propeller protein-associated neurodegeneration due to mutations in WDR45...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325613/essential-tremor
#16
Lorraine N Clark, Elan D Louis
Essential tremor (ET) is one of the most common neurologic disorders, and genetic factors are thought to contribute significantly to disease etiology. There has been a relative lack of progress in understanding the genetic etiology of ET. This could reflect a number of factors, including the presence of substantial phenotypic and genotypic heterogeneity. Thus, a meticulous approach to phenotyping is important for genetic research. A lack of standardized phenotyping across studies and patient centers likely has contributed to the relative lack of success of genomewide association studies in ET...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325287/-the-diagnostic-value-and-limits-of-diagnostic-parameters-for-wilson-s-disease
#17
X Yang
Wilson disease (WD) is a rare and treatable genetic disorder. This paper describes the new advances and author's long-term experiences in the diagnosis of WD. The characteristics in clinical and routine tests are: the age of presentation can be quite broad, the WD could not be excluded based on age only; the patients usually have mild digestive symptoms but obvious chronic liver disease signs; liver function tests may reveal normal or a mild elevation in bilirubin, ALT and AST, but quite abnormal in serum albumin and prothrombin time in most patients; Coombs-negative hemolytic anemia, normal or markedly subnormal serum alkaline phosphatase (typically < 40 IU/L) are useful for the diagnosis of fulminant WD...
December 20, 2017: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/29325224/hereditary-kidney-cancer-syndromes-genetic-disorders-driven-by-alterations-in-metabolism-and-epigenome-regulation
#18
Hisashi Hasumi, Masahiro Yao
Although hereditary kidney cancer syndrome accounts for around five percent of all kidney cancers, the mechanistic insight into tumor development in these rare conditions has provided the foundation for the development of molecular targeting agents currently used for sporadic kidney cancer. In the late 1980s, the comprehensive study for hereditary kidney cancer syndrome was launched in the National Cancer Institute, U.S.A. and the first kidney cancer associated gene, VHL was identified through kindred analysis of von Hippel-Lindau syndrome in 1993...
January 11, 2018: Cancer Science
https://www.readbyqxmd.com/read/29325092/intravenous-administration-of-scaav9-hexb-normalizes-lifespan-and-prevents-pathology-in-sandhoff-disease-mice
#19
Natalia Niemir, Laura Rouvière, Aurore Besse, Marie T Vanier, Jasmin Dmytrus, Thibaut Marais, Stéphanie Astord, Jean-Philippe Puech, Ganna Panasyuk, Jonathan D Cooper, Martine Barkats, Catherine Caillaud
Sandhoff disease (SD) is a rare inherited disorder caused by a deficiency of β-hexosaminidase activity which is fatal because no effective treatment is available. A mouse model of Hexb deficiency reproduces the key pathognomonic features of SD patients with severe ubiquitous lysosomal dysfunction, GM2 accumulation, neuroinflammation and neurodegeneration, culminating in death at 4 months. Here, we show that a single intravenous neonatal administration of a self-complementary adeno-associated virus 9 vector (scAAV9) expressing the Hexb cDNA in SD mice is safe and sufficient to prevent disease development...
January 8, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29325023/the-extending-spectrum-of-npc1-related-human-disorders-from-niemann-pick-c1-disease-to-obesity
#20
Amel Lamri, Marie Pigeyre, William S Garver, David Meyre
The Niemann-Pick C1 (NPC1) protein regulates the transport of cholesterol and fatty acids from late endosomes / lysosomes and has a central role in maintaining lipid homeostasis. NPC1 loss-of-function mutations in humans cause NPC1 disease, a rare autosomal-recessive lipid-storage disorder characterized by progressive and lethal neurodegeneration, liver and lung failure, due to cholesterol infiltration. In humans, genome wide association studies (GWAS) and post-GWAS reports highlight the implication of common variants in NPC1 in adult-onset obesity, body fat mass, and type 2 diabetes...
January 9, 2018: Endocrine Reviews
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