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https://www.readbyqxmd.com/read/28441636/psychological-features-and-quality-of-life-in-50-adult-patients-with-epilepsy-and-their-caregivers-from-the-lecco-epilepsy-center-italy
#1
Alessandra Petruzzi, Andrea Rigamonti, Claudia Yvonne Finocchiaro, Paolo Borelli, Elena Lamperti, Antonio Silvani, Rossana Regazzoni, Lorenzo Stanzani, Andrea Salmaggi
Epilepsy is one of the most common neurological disorders. To the best of our knowledge, in Italy, the relationship between patients' and caregivers' psychological state has rarely been analyzed. Thus, we sought to evaluate both the psychological state of patients with epilepsy and that of their caregivers and the interrelationship between them. We also assessed the existing relation between psychological features and some clinical and demographic information, such as number of antiepileptic drugs (AEDs), epilepsy duration and education level of patients and their caregivers...
April 22, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28440921/pediatric-pulmonology-year-in-review-2016-part-1
#2
REVIEW
David J Birnkrant, Jane B Black, Ignacio E Tapia, Thomas Nicolai, William A Gower, Terry L Noah
Pediatric Pulmonology continues to publish research and clinical topics related to the entire range of children's respiratory disorders. As we have done annually in recent years, we here summarize the past year's publications in our major topic areas, as well as selected literature in these areas from other core journals relevant to our discipline. This review (Part 1) covers selected articles on sleep, diagnostic testing/endoscopy, respiratory complications of neuromuscular disorders, and rare lung diseases...
April 25, 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28440900/phosphoglycerate-dehydrogenase-phgdh-deficiency-without-epilepsy-mimicking-primary-microcephaly
#3
Antoine Poli, Yoann Vial, Damien Haye, Sandrine Passemard, Manuel Schiff, Hala Nasser, Catherine Delanoe, Emma Cuadro, Rémi Kom, Narcisse Elanga, Anne Favre, Séverine Drunat, Alain Verloes
Phosphoglycerate dehydrogenase (PHGDH) deficiency (OMIM 256520) is a rare autosomal recessive disorder of serine synthesis, with mostly severe congenital microcephaly, caused by mutations in the PHGDH gene. Fourteen patients reported to date show severe, early onset, drug resistant epilepsy. In a cohort of patients referred for primary microcephaly, compound heterozygosity for two unreported variants in PHGDG was identified by exome sequencing in a pair of sibs who died aged 4.5 months and 4.5 years. They had severe neurological involvement with congenital microcephaly, disorganized EEG, and progressive spasticity, but never had seizures...
April 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28440529/-implementation-of-enhanced-recovery-after-surgery-in-nutritional-management-of-patients-undergoing-metabolic-surgery
#4
Tianzi Zhang, Qin Xu, Ningli Yang, Juan Tang, Hui Liang
Metabolic surgery is a gastrointestinal surgical procedure to treat obesity and its related co-morbidities with rapid development in recent years. Patients undergoing metabolic surgery have preoperative nutritional disorders, and the nutrition management for these patients is the key point of perioperative management. During the perioperative period, current research has preliminarily confirmed that perioperative managements including supplementation of micronutrients, preoperative evaluation of the weight loss, preoperative fasting and carbohydrate oral intake based on the full application of ERAS and characteristics of the patients undergoing metabolic surgery, are safe and effective in clinical practice...
April 25, 2017: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/28440418/two-novel-mutations-in-ercc6-cause-cockayne-syndrome-b-in-a-chinese-family
#5
Chunxia He, Mao Sun, Guoxia Wang, Ying Yang, Libo Yao, Yuanming Wu
Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized principally by progressive growth failure, neurologic abnormality and premature aging. Mutations of excision repair cross‑complementation group 6 (ERCC6) and ERCC8 are predominantly responsible for CS, of which mutation of ERCC6 accounts for approximately two thirds of cases. The current report describes two siblings with severe neurologic abnormality and premature aging. Whole exome sequencing identified two novel mutations in ERCC6 that had not been previously reported...
April 20, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28440294/next-generation-dna-sequencing-identifies-novel-gene-variants-and-pathways-involved-in-specific-language-impairment
#6
Xiaowei Sylvia Chen, Rose H Reader, Alexander Hoischen, Joris A Veltman, Nuala H Simpson, Clyde Francks, Dianne F Newbury, Simon E Fisher
A significant proportion of children have unexplained problems acquiring proficient linguistic skills despite adequate intelligence and opportunity. Developmental language disorders are highly heritable with substantial societal impact. Molecular studies have begun to identify candidate loci, but much of the underlying genetic architecture remains undetermined. We performed whole-exome sequencing of 43 unrelated probands affected by severe specific language impairment, followed by independent validations with Sanger sequencing, and analyses of segregation patterns in parents and siblings, to shed new light on aetiology...
April 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28439420/an-unusual-cause-of-fatal-rapid-onset-ataxia-plus-syndrome
#7
Ivan Kmezic, Jan Weinberg, Dan Hauzenberger, Farouk Hashim, Evangelia Kollia, Monika Klimkowska, Inger Nennesmo, Martin Paucar
BACKGROUND: Progressive multifocal leukoencephalopathy (PML) is a demyelinating disorder of the central nervous system caused by reactivation of the JC-virus and is in most cases associated with underlying immunosuppression. Acquired immune deficiency syndrome (AIDS) and hematological malignancies are well-known predisposing factors for PML. However, in the past ten years, various pharmacological agents have been associated with increased risk of PML. Based on the phenomenology PML can be divided into the cerebral form and the rare cerebellar form...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28439288/systemic-mastocytosis-with-kit-v560g-mutation-presenting-as-recurrent-episodes-of-vascular-collapse-response-to-disodium-cromoglycate-and-disease-outcome
#8
Iolanda Conde-Fernandes, Rita Sampaio, Filipa Moreno, José Palla-Garcia, Maria Dos Anjos Teixeira, Inês Freitas, Esmeralda Neves, Maria Jara-Acevedo, Luis Escribano, Margarida Lima
BACKGROUND: Mastocytosis are rare diseases characterized by an accumulation of clonal mast cells (MCs) in one or multiple organs or tissues. Patients with systemic mastocytosis (SM), whose MCs frequently arbor the activating D816V KIT mutation, may have indolent to aggressive diseases, and they may experience MC mediator related symptoms. Indolent SM with recurrent anaphylaxis or vascular collapse in the absence of skin lesions, ISMs(-), is a specific subtype indolent SM (ISM), and this clonal MC activation disorder represents a significant fraction of all MC activation syndromes...
2017: Allergy, Asthma, and Clinical Immunology
https://www.readbyqxmd.com/read/28439221/congenital-hyperinsulinism-caused-by-a-de-novo-mutation-in-the-abcc8-gene-a-case-report
#9
Zsuzsanna Molnár, Lfdia Balogh, János Kappelmayer, László Madar, Éva Gombos, István Balogh
Congenital hyperinsulinism (CHI) is a rare genetic disorder characterized by inappropriate insulin secretion and severe hypoglycaemia. There are two histological subtypes: diffuse and focal form. Diffuse form is most common in autosomal recessive mutations in ABCC8/KCNJ11 gene, while focal CHI is caused a paternally inherited mutation and a somatic maternal allele loss. Here we report a case of a term male infant presented with severe hyperinsulinaemic hypoglycaemia. Gene panel testing was performed to give rapid genetic diagnosis...
March 2017: EJIFCC
https://www.readbyqxmd.com/read/28439062/a-rare-case-of-necrotizing-myopathy-and-fibrinous-and-organizing-pneumonia-with-anti-ej-antisynthetase-syndrome-and-ssa-antibodies
#10
Muhammad Kashif, Divya Arya, Masooma Niazi, Misbahuddin Khaja
BACKGROUND Idiopathic inflammatory myopathies are autoimmune disorders that can involve the skin, joints, muscles, and lungs. The most common of these disorders are dermatomyositis, polymyositis, overlap syndrome, and inclusion body myositis. Necrotizing autoimmune myopathy is an idiopathic inflammatory myopathy that is rarely associated with Sjögren's syndrome. The most common lung findings associated with anti-EJ antisynthetase syndrome are nonspecific interstitial pneumonia and usual interstitial pneumonia; this condition is rarely associated with fibrinous and organizing pneumonia...
April 25, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28438758/diabetes-mellitus-and-acquired-haemophilia-new-association
#11
Carlos Tavares Bello, Yuliya Vasylenko, José Esteves, Carlos Augusto Vasconcelos
Diabetes mellitus encompasses a group of highly prevalent carbohydrate metabolic disorders with an increasing incidence. Some subtypes are thought to be associated with other immune-mediated diseases. Acquired haemophilia on the other hand is a quite rare autoimmune disease that is thought to be secondary to the emergence of inhibiting anticoagulation factor VIII antibodies (inhibitors) in patients with previously normal haemostatic function. More recently, numerous different diseases have been associated with acquired haemophilia namely immune-mediated diseases, drugs and solid and haematologic neoplasms...
April 24, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28438753/complicated-small-bowel-diverticular-disease-a-case-series
#12
Linden Karas, Mohammed Asif, Victor Chun, Farrukh A Khan
Small bowel diverticulosis of the jejunum and ileum is an uncommon finding with a prevalence rate of 0.2% to 1.3% at autopsy and 0.3% to 1.9% on small bowel studies. Diagnosis can be difficult because there are no pathognomonic features or clinical symptoms that are specific for small bowel diverticulosis. Though rare, it is critical to keep the possibility of small bowel diverticulosis in mind when evaluating cases of malabsorption, chronic abdominal pain, haemorrhage, perforation and intestinal obstruction, especially in patients with connective tissue disorders, a family history of diverticula and a personal history of colonic diverticulosis...
April 23, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28438604/first-reported-chinese-case-of-guanidinoacetate-methyltransferase-deficiency-in-a-4-year-old-child
#13
Weihua Sun, Yi Wang, Zhen Zu, Jiang Yi, Wei Lu, Huijun Wang, Bingbing Wu, Ping Zhang, Xiaomin Peng, Hao Zhou
Guanidinoacetate methyltransferase (GAMT) deficiency is a rare inherited disorder characterized by creatine (Cr) depletion and guanidinoacetate (GAA) accumulation in body fluids. We report the first identified Chinese case, diagnosed in a 4-year-old girl with onset of global developmental. Low Cr and high GAA levels were detected in her serum and urine, and low Cr level in her brain. Compound heterozygous variants in GAMT gene were found, including a previously reported variant at c.491dupG which was inherited from her mother and a novel variant at c...
April 21, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28438569/methylprednisolone-liver-toxicity-a-new-case-and-a-french-regional-pharmacovigilance-survey
#14
Jérôme Dumortier, Judith Cottin, Caroline Lavie, Olivier Guillaud, Valérie Hervieu, Christine Chambon-Augoyard, Jean-Yves Scoazec, Sandra Vukusic, Thierry Vial
Reported hepatotoxicity induced by corticosteroids is very rare, and the diagnosis is highly challenging in the context of auto-immune disease. We report here a case of high-dose methylprednisolone (MP)-induced acute hepatitis confirmed by liver histology in a patient with multiple sclerosis (MS) and a case series (n=4) notified to the French Pharmacovigilance center of Lyon. In all 5 cases, other common causes of hepatitis were excluded. The causal relationship with MP pulse therapy was supported by the fact that MP was the only culprit drug...
April 21, 2017: Clinics and Research in Hepatology and Gastroenterology
https://www.readbyqxmd.com/read/28438457/-tophaceous-gout-of-the-lumbar-spine-in-a-patient-without-systemic-gout-or-normouricaemia
#15
Alejandro Lorente, Rafael Lorente, Jorge Romero
Gout is a common metabolic disorder typically diagnosed in peripheral joints. Tophaceous deposits in the lumbar spine is a very rare condition with very few cases reported in the literature. We present a case of tophaceous gout that originated in the lumbar spine in a patient with normal uric acid blood levels. The following case report concerns a 52-year-old patient with low back pain, left sciatica and numbness in the left leg. Serum uric acid levels were within normal range. MRI and bone scan images suggested an inflammatory-infectious process focussed at L4...
April 21, 2017: Neurocirugía
https://www.readbyqxmd.com/read/28438223/extrastriatal-changes-in-patients-with-late-onset-glutaric-aciduria-type-i-highlight-the-risk-of-long-term-neurotoxicity
#16
Nikolas Boy, Jana Heringer, Renate Brackmann, Olaf Bodamer, Angelika Seitz, Stefan Kölker, Inga Harting
BACKGROUND: Without neonatal initiation of treatment, 80-90% of patients with glutaric aciduria type 1 (GA1) develop striatal injury during the first six years of life resulting in a complex, predominantly dystonic movement disorder. Onset of motor symptoms may be acute following encephalopathic crisis or insidious without apparent crisis. Additionally, so-called late-onset GA1 has been described in single patients diagnosed after the age of 6 years. With the aim of better characterizing and understanding late-onset GA1 we analyzed clinical findings, biochemical phenotype, and MRI changes of eight late-onset patients and compared these to eight control patients over the age of 6 years with early diagnosis and start of treatment...
April 24, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28437516/a-rare-case-of-misdiagnosed-silent-lung-cancer-with-solitary-metastasis-to-the-temporomandibular-joint-condyle
#17
Luca Guarda-Nardini, Edoardo Stellini, Adolfo Di Fiore, Daniele Manfredini
This article describes the case history of a 59-year-old female patient who sought advice for temporomandibular joint (TMJ) pain and sounds but who was actually diagnosed with a primary lung cancer with metastasis to the TMJ. The patient had a history of TMJ pain and deflection in jaw movement that progressively worsened over a few months and did not improve with the usual standard of care treatment provided by an orofacial pain practitioner. Magnetic resonance and computed tomography (CT) prescribed at a tertiary clinic showed an osteolytic bone mass within the right TMJ condyle...
April 2017: Journal of Oral & Facial Pain and Headache
https://www.readbyqxmd.com/read/28437058/psychotic-and-bipolar-disorders-antipsychotic-drugs
#18
Sarah D Holder, Alaina L Edmunds, Sherri Morgan
Antipsychotic drugs block dopamine receptors and are used to manage psychosis as well as other mental illnesses that may or may not have psychotic features, such as bipolar disorders and major depressive disorder. First-generation antipsychotic drugs are more likely to cause adverse effects such as extrapyramidal symptoms and tardive dyskinesia. Adverse effects of second-generation antipsychotic drugs typically are related to metabolic abnormalities such as weight gain, abnormal blood glucose levels, and elevated lipid levels...
April 2017: FP Essentials
https://www.readbyqxmd.com/read/28436937/efficacy-of-anti-sclerostin-monoclonal-antibody-bps804-in-adult-patients-with-hypophosphatasia
#19
Lothar Seefried, Jasmin Baumann, Sarah Hemsley, Christine Hofmann, Erdmute Kunstmann, Beate Kiese, Yue Huang, Simon Chivers, Marie-Anne Valentin, Babul Borah, Ronenn Roubenoff, Uwe Junker, Franz Jakob
BACKGROUND: Hypophosphatasia (HPP) is a rare genetic disorder resulting in variable alterations of bone formation and mineralization that are caused by mutations in the ALPL gene, encoding the tissue-nonspecific alkaline phosphatase (ALP) enzyme. METHODS: In this phase IIA open-label, single-center, intra-patient, dose-escalating study, adult patients with HPP received 3 ascending intravenous doses of 5, 10, and 20 mg/kg BPS804, a fully human anti-sclerostin monoclonal antibody, on days 1, 15, and 29, respectively...
April 24, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28436583/physical-activity-and-exercise-for-chronic-pain-in-adults-an-overview-of-cochrane-reviews
#20
REVIEW
Louise J Geneen, R Andrew Moore, Clare Clarke, Denis Martin, Lesley A Colvin, Blair H Smith
BACKGROUND: Chronic pain is defined as pain lasting beyond normal tissue healing time, generally taken to be 12 weeks. It contributes to disability, anxiety, depression, sleep disturbances, poor quality of life, and healthcare costs. Chronic pain has a weighted mean prevalence in adults of 20%.For many years, the treatment choice for chronic pain included recommendations for rest and inactivity. However, exercise may have specific benefits in reducing the severity of chronic pain, as well as more general benefits associated with improved overall physical and mental health, and physical functioning...
April 24, 2017: Cochrane Database of Systematic Reviews
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