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https://www.readbyqxmd.com/read/28647735/uniparental-disomy-of-chromosome-15-in-two-cases-by-chromosome-microarray-a-lesson-worth-thinking
#1
Shu Liu, Kaihui Zhang, Fengling Song, Yali Yang, Yuqiang Lv, Min Gao, Yi Liu, Zhongtao Gai
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurogenetic disorders caused by loss of function of the imprinted genes at 15q11q13. A 5-7 Mb paternal/maternal deletion of chromosomal region 15q11.2q13 is the major genetic cause of PWS/AS, but in a small group of patients, the PWS/AS phenotype can result from maternal/paternal uniparental disomy (UPD) of chromosome 15. Various mechanisms leading to UPD include gametic complementation, trisomy rescue, and compensatory UPD, which can be inferred from the pattern of uniparental heterodisomy (heteroUPD) or uniparental isodisomy (isoUPD)...
June 24, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28647708/relapsing-cerebral-amyloid-angiopathy-related-inflammation-the-wax-and-the-wane
#2
Sharfaraz Salam, Mayooreshan Anandarajah, Sarah Al-Bachari, Piyali Pal, Jonathan Sussman, Hisham Hamdalla
Cerebral amyloid angiopathy-related inflammation (CAA-I) is a rare variant of cerebral amyloid angiopathy (CAA). Its precise pathophysiology remains uncertain and we currently have limited evidence on which immunosuppressive agents are the most effective in its treatment. The disease course of CAA-I disorders can vary from an isolated clinical event to recurrent episodes. We present a case of biopsy-confirmed CAA-I that gives insight into its potential relapsing nature and the challenges of its long-term management...
June 24, 2017: Practical Neurology
https://www.readbyqxmd.com/read/28647490/sex-biased-eicosanoid-biology-impact-for-sex-differences-in-inflammation-and-consequences-for-pharmacotherapy
#3
REVIEW
Simona Pace, Lidia Sautebin, Oliver Werz
The incidence, severity and progression of autoimmune diseases (e.g. scleroderma, multiple sclerosis, rheumatoid arthritis) and certain inflammatory diseases (e.g. asthma) are sex-biased where these pathologies dominate in women. However, other immune disorders such as sepsis, post-surgery infections and gout display higher incidence and severity in men. The molecular and cellular basis underlying this sex dimorphism remains incompletely elucidated but may provide important insights for sex-specific pharmacotherapy...
June 21, 2017: Biochemical Pharmacology
https://www.readbyqxmd.com/read/28646945/primary-amyloidosis-of-the-bladder-a-mimicker-of-bladder-cancer
#4
Ryan Fitzpatrick, Nicholas R Paterson, Eric C Belanger, Arleigh McCurdy, James Watterson
Amyloidosis is a protein folding disorder characterized by the deposition of fibrillar proteins into solid organs or tissues. Primary localized amyloidosis of the bladder is very rare and can mimic bladder cancer in its presentation with hematuria, lower urinary tract symptoms or a mass on imaging. A case of localized amyloidosis of the bladder in a 48-year-old man with painless gross hematuria and evidence of bladder mass on ultrasound is presented. Amyloidosis is a rare but important non-malignant process of the bladder...
June 2017: Canadian Journal of Urology
https://www.readbyqxmd.com/read/28646532/acquired-bilateral-telangiectasia-macularis-eruptiva-perstans-a-unique-clinical-feature-of-photodamaging-rather-than-a-subtype-of-cutaneous-mastocytosis
#5
Hye-Rim Moon, Young Jae Kim, Joon Min Jung, Chong Hyun Won, Mi Woo Lee, Jee Ho Choi, Sung Eun Chang
Telangiectasia macularis eruptiva perstans (TMEP) is a rare subtype of cutaneous mastocytosis, characterized by telangiectatic tan to brown macules on the trunk and extremities. Although TMEP has been descried as an uncommon disease in the literature, we often encounter patients with TMEP lesions in the outpatient clinic. We aimed to assess the clinical and histopathological characteristics of acquired bilateral TMEP, and the pathophysiological mechanism of acquired bilateral TMEP among these patients. We retrospectively reviewed 30 patients (28 men and 2 women) with acquired bilateral TMEP; multiple telangiectatic dark red to brown macules that were symmetrically distributed...
June 23, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28646478/newborn-screening-for-fabry-disease-in-the-north-west-of-spain
#6
Cristobal Colon, Saida Ortolano, Cristina Melcon-Crespo, Jose V Alvarez, Olalla E Lopez-Suarez, Maria L Couce, José R Fernández-Lorenzo
Fabry disease is an X-linked lysosomal storage disorder caused by the impairment of α-galactosidase A. Enzyme replacement therapy is available to treat patients, who often experience delayed diagnosis. A newborn screening for Fabry disease was performed to study the prevalence of the pathology and to evaluate the possibility to implement the test in systematic screenings. We collected 14,600 dried blood spot samples (7575 males and 7025 females) and carried out a diagnostic study by fluorometric measurement of α-galactosidase A enzymatic activity and GLA gene sequencing...
June 23, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28646343/clinical-outcome-following-anterior-cervical-discectomy-and-fusion-with-and-without-anterior-cervical-plating-for-the-treatment-of-cervical-disc-herniation-a-25-year-follow-up-study
#7
Benedikt W Burkhardt, Moritz Brielmaier, Karsten Schwerdtfeger, Joachim M Oertel
Extreme long-term clinical outcome studies following anterior cervical discectomy and fusion (ACDF) with an autologous iliac crest with and without Caspar plating (ACDF + CP) for the treatment of radiculopathy caused by cervical disc herniation (CDH) are extremely rare. Hospital records of patients who underwent ACDF or ACDF + CP for the treatment of CDH at least 17 years ago were reviewed. Information about diagnosis, surgery, pre- and postoperative clinical process, and repeated procedure was analyzed...
June 23, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28646130/congenital-chloride-diarrhea-ccd-a-case-report-of-ccd-suspected-by-prenatal-ultrasonography-and-magnetic-resonance-imaging-mri
#8
Takakazu Kawamura, Tomizou Nishiguchi
BACKGROUND Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder that is difficult to distinguish from fetal lower intestinal obstruction. A prenatal diagnosis will make a contribution to the prognosis of the newborn. CASE REPORT We report a rare case of congenital chloride diarrhea (CCD) prenatally suspected by ultrasound and MRI. The prenatal ultrasound revealed signs of intestinal dilatation suggesting lower intestinal obstruction. MRI findings also revealed intestinal dilatation that continued from the rectum...
June 24, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28645971/association-between-chronic-obstructive-pulmonary-disease-and-increased-risk-of-benign-prostatic-hyperplasia-a-retrospective-nationwide-cohort-study
#9
Yi-Hao Peng, Chien-Wen Huang, Wei-Chih Liao, Hsuan-Ju Chen, Ming-Chien Yin, Yu-Ming Huang, Trong-Neng Wu, Wen-Chao Ho
OBJECTIVE: Chronic obstructive pulmonary disease (COPD) and benign prostatic hyperplasia (BPH) are common disorders in ageing male populations. Nevertheless, the relationship between the two diseases has rarely been explored. The objective of this study was to examine whether patients with COPD are at an increased risk of BPH. DESIGN: Retrospective nationwide cohort study. SETTING: Data retrieved from the Taiwan National Health Insurance Research Database...
June 23, 2017: BMJ Open
https://www.readbyqxmd.com/read/28645778/whole-genome-sequencing-of-monozygotic-twins-discordant-for-schizophrenia-indicates-multiple-genetic-risk-factors-for-schizophrenia
#10
Jinsong Tang, Yu Fan, Hong Li, Qun Xiang, Deng-Feng Zhang, Zongchang Li, Ying He, Yanhui Liao, Ya Wang, Fan He, Fengyu Zhang, Yin Yao Shugart, Chunyu Liu, Yanqing Tang, Raymond C K Chan, Chuan-Yue Wang, Yong-Gang Yao, Xiaogang Chen
Schizophrenia is a common disorder with a high heritability, but its genetic architecture is still elusive. We implemented whole-genome sequencing (WGS) analysis of 8 families with monozygotic (MZ) twin pairs discordant for schizophrenia to assess potential association of de novo mutations (DNMs) or inherited variants with susceptibility to schizophrenia. Eight nonsynonymous DNMs (including one splicing site) were identified and shared by twins, which were either located in previously reported schizophrenia risk genes (p...
June 8, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/28645352/r%C3%A3-sistances-aux-hormones-st%C3%A3-ro%C3%A3-des-physiologie-et-pathologie-pathophysiology-of-steroid-resistance-syndrome
#11
N Ramos, M Lombès
Steroid resistance syndrome (mineralocorticoids, glucocorticoids, estrogens, androgens) is a rare clinical disorder, androgen insensitivity syndrome being the most commonly described. Resistance syndromes are characterized by elevated steroid hormone levels, secondary to an impaired signal transduction and a lack of negative feedback, without any specific clinical signs of steroid excess. In most cases, steroid hormone resistance is generally caused by steroid receptor mutations. Several nonsense and missense mutations or deletions have already been described for all steroid receptors, except for the progesterone receptor...
October 2016: Annales D'endocrinologie
https://www.readbyqxmd.com/read/28645320/acromegaly-discovered-during-a-routine-out-patient-surgical-procedure-a-case-report
#12
Chukwudi O Chiaghana, Julia M Bauerfeind, Cheri A Sulek, J Christopher Goldstein, Caleb A Awoniyi
BACKGROUND: Acromegaly is a rare syndrome in which there is unregulated hypersecretion of growth hormone. The anesthetic management of patients with this disorder is particularly challenging due to pre-existing cardiovascular and respiratory dysfunction, as well as recognized difficulties with airway management. Because of the insidious progression of the disease and the presence of nonspecific signs and symptoms, diagnosis is often made late when characteristic acromegalic features become apparent...
June 24, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28645246/igmk-paraprotein-from-gammopathy-patient-can-bind-to-cardiolipin-and-interfere-with-coagulation-assay-a-case-report
#13
Xin-Yao Wu, Yu-Feng Yin, Jia-Lin Teng, Li-Wei Zhang, Cheng-de Yang
BACKGROUND: The monoclonal gammopathies are a group of plasma-cell proliferative disorders characterized by the secretion of monoclonal immunoglobulin (M protein or paraprotein). Some rare cases have revealed the specific affinity of paraprotein as autoantibody. Here we report a patient with monoclonal gammopathy of undetermined significance (MGUS) accompanied by a remarkable increase of anticardiolipin antibody (aCL) and an extensively decreased coagulation factor activity, however, without any clinical signs of antiphospholipid syndrome (APS) and bleeding...
June 23, 2017: BMC Immunology
https://www.readbyqxmd.com/read/28645126/-adhd-in-adults-and-comorbid-substance-use-disorder-prevalence-clinical-diagnostics-and-integrated-therapy
#14
Henrike Dirks, Norbert Scherbaum, Bernhard Kis, Christian Mette
Substance use disorders (SUD) are one of the most frequent mental disorders among adults. Attention-Deficit/Hyperactivity-Disorder (ADHD) is one of the most common mental health issues in childhood and adolescence, often persisting in adulthood. ADHD in childhood and adolescence is a robust predictor of tobacco, alcohol and illicit substance use in adulthood. Prevalence of comorbid ADHD in SUD patients is high. Nearly one quarter of these patients fulfill the DSM IV criteria for ADHD. Integrated concepts for treatment of SUD and ADHD are needed, but rare up to now...
June 2017: Fortschritte der Neurologie-Psychiatrie
https://www.readbyqxmd.com/read/28644859/grief-interventions-for-people-bereaved-by-suicide-a-systematic-review
#15
Katja Linde, Julia Treml, Jana Steinig, Michaela Nagl, Anette Kersting
BACKGROUND: Adaption to the loss of a loved one due to suicide can be complicated by feelings of guilt, shame, responsibility, rejection, and stigmatization. Therefore people bereaved by suicide have an increased risk for developing complicated grief which is related to negative physical and mental disorders and an increased risk for suicidal behavior. Grief interventions are needed for this vulnerable population. The aim of this systematic review was to provide an overview of the current state of evidence concerning the effectiveness of interventions that focus on grief for people bereaved by suicide...
2017: PloS One
https://www.readbyqxmd.com/read/28644838/characterization-and-utilization-of-an-international-neurofibromatosis-web-based-patient-entered-registry-an-observational-study
#16
Mindell Seidlin, Robert Holzman, Pamela Knight, Bruce Korf, Vanessa Rangel Miller, David Viskochil, Annette Bakker
The neurofibromatoses (neurofibromatosis type 1, neurofibromatosis type 2 and schwannomatosis) are rare disorders having clinical manifestations that vary greatly from patient to patient. The rarity and variability of these disorders has made it challenging for investigators to identify sufficient numbers of patients with particular clinical characteristics or specific germline mutations for participation in interventional studies. Similarly, because the natural history of all types of neurofibromatosis (NF) is variable and unique for each individual, it is difficult to identify meaningful clinical outcome measures for potential therapeutic interventions...
2017: PloS One
https://www.readbyqxmd.com/read/28644530/long-term-outcome-of-anorexia-nervosa-results-from-a-large-clinical-longitudinal-study
#17
Manfred Maximilian Fichter, Norbert Quadflieg, Ross D Crosby, Sonja Koch
OBJECTIVE: Assessment of the long-term outcome of anorexia nervosa (AN) in a very large sample of inpatients (N = 1,693) and identification of predictors for poor outcome. METHOD: Over 25 years (mean 10 years), consecutively admitted inpatients of a specialized hospital were followed. A subsample of 112 patients with 20-year follow-up was defined. Bivariate comparisons and logistic regression analysis identified risk factors of poor outcome. RESULTS: Body mass index (BMI) increased during the follow-up period...
June 23, 2017: International Journal of Eating Disorders
https://www.readbyqxmd.com/read/28644112/susac-syndrome-misdiagnosed-as-multiple-sclerosis-with-exacerbation-by-interferon-beta-therapy
#18
Hussein Algahtani, Bader Shirah, Muhammad Amin, Eyad Altarazi, Hashem Almarzouki
Susac syndrome is a rare autoimmune disorder characterised by the clinical triad of encephalopathy, retinopathy (branch retinal artery occlusions) and hearing loss. The diagnosis of Susac syndrome may be difficult initially, and it is not uncommon for patients with Susac syndrome to be misdiagnosed with multiple sclerosis. In this case report, we describe a patient who was diagnosed as having multiple sclerosis for three years, with further deterioration after starting treatment with interferon beta-1a. The patient had the triad of encephalopathy, branch retinal artery occlusions and sensorineural hearing loss...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28644091/prevention-of-cardiovascular-disease-in-patients-with-familial-hypercholesterolaemia-the-role-of-pcsk9-inhibitors
#19
Ivan Pećin, Merel L Hartgers, G Kees Hovingh, Ricardo Dent, Željko Reiner
Familial hypercholesterolaemia is an autosomal dominant inherited disorder characterised by elevated low-density lipoprotein cholesterol levels and consequently an increased risk of atherosclerotic cardiovascular disease (ASCVD). Familial hypercholesterolaemia is relatively common, but is often underdiagnosed and undertreated. Cardiologists are likely to encounter many individuals with familial hypercholesterolaemia; however, patients presenting with premature ASCVD are rarely screened for familial hypercholesterolaemia and fasting lipid levels are infrequently documented...
January 1, 2017: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/28643676/-asymptomatic-primary-hyperparathyroidism-in-women
#20
Francisco R Spivacow, Claudia Palumbo
Primary hyperparathyroidism may have different characteristics. One is the asymptomatic form. This is a mild variant of hypercalcemic hyperparathyroidism, characterized by a calcemia not greater than 1 mg/dl above the upper limit of the method, a high intact parathyroid hormone (iPTH), absence of renal stones, renal function impairement, and osteoporosis, less than 50 years of age, and less than 400 mg/day calciuria. It is not a surgical entity, but its evolution may require it. Twenty-four postmenopausal women, all older than 50 years, with a diagnosis of asymptomatic hyperparathyroidism, were studied...
2017: Medicina
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