keyword
MENU ▼
Read by QxMD icon Read
search

Rare disorders

keyword
https://www.readbyqxmd.com/read/28931195/hereditary-hemorrhagic-telangiectasia-laser-treatment-of-epistaxis
#1
Gorazd Poje, Marcel Marjanović Kavanagh
Hereditary hemorrhagic telangiectasia (HHT) is a rare, autosomal dominant disorder characterized by recurrent epistaxis, telangiectasias, and multiorgan vascular dysplasia. Various modalities exist for the treatment of HHT-related chronic epistaxis, although no method is preferred over another. The aim of this study was to review the effectiveness of diode laser photocoagulation in the treatment of epistaxis in patients with HHT. The study included 17 patients (7 men, 10 women) treated with diode laser photocoagulation from year 2008 to 2012...
September 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/28929285/genomic-disorders-in-psychiatry-what-does-the-clinician-need-to-know
#2
REVIEW
Chelsea Lowther, Gregory Costain, Danielle A Baribeau, Anne S Bassett
PURPOSE OF REVIEW: The purpose of this review is to summarize the role of genomic disorders in various psychiatric conditions and to highlight important recent advances in the field that are of potential clinical relevance. RECENT FINDINGS: Genomic disorders are caused by large rare recurrent deletions and duplications at certain chromosomal "hotspots" (e.g., 22q11.2, 16p11.2, 15q11-q13, 1q21.1, 15q13.3) across the genome. Most overlap multiple genes, affect development, and are associated with variable cognitive and other neuropsychiatric expression...
September 20, 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/28929075/why-cannot-we-have-an-etiological-classification-for-the-patients-with-granular-myringitis
#3
Mohan Bansal
Though granular myringitis (GM) is not a very rare disease it does not have any classification. Its exact etiology is not known. The granulations on tympanic membrane also occur in association with other lesions of external auditory canal (EAC) and middle ear. The aims of this study were to know the etiological factors of GM and classify the disease according to its etiological factors and associated disorders of EAC and middle ear. Data were retrieved from the search of four electronic databases: PubMed, EMBASE, Cochrane Library, and Google scholar...
September 2017: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/28928829/braf-v600e-mutation-contributes-papillary-thyroid-carcinoma-and-hashimoto-thyroiditis-with-resistance-to-thyroid-hormone-a-case-report-and-literature-review
#4
Wanjia Xing, Xiaohong Liu, Qingqing He, Zongjing Zhang, Zhaoshun Jiang
Resistance to thyroid hormone (RTH) is a rare autosomal hereditary disorder characterized by increased serum thyroid hormone (TH) levels with unsuppressed or increased thyrotropin concentration. It remains unknown whether the coexistence of RTH with papillary thyroid carcinoma (PTC) and Hashimoto thyroiditis (HT) is incidental or whether it possesses a genetic or pathophysiological association. In the present study, a case of RTH with PTC and HT in an 11-year-old Chinese patient was examined and the clinical presentation of RTH with PTC was discussed...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28928594/anesthesia-management-of-a-child-with-osteopetrosis
#5
Hashem Jarineshin, Fereydoon Fekrat, Mehdi Feiz Dowlat Abadi
Osteopetrosis is a rare genetic disorder of osteoclast dysfunction leading to anatomical and physiological disorders. We present the anesthesia management for the femur fracture of a 4-year-old girl with malignant infantile type of osteopetrosis. She had a ventriculoperitoneal shunt, impaired motion, visual disturbance, growth failure, facial deformity, heart murmur of moderate tricuspid regurgitation, and left ventricular heart failure, with splenomegaly and severe anemia.
July 2017: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/28928587/unexpected-complication-after-caudal-epidural-steroid-injection-hiccup
#6
Ayhan Kaydu, Ebru Tarıkçı Kılıç, Erhan Gökçek, Mehmet Salim Akdemir
Persistent hiccup is uncommon, and the mechanism is poorly understood. We present the case of a 43-year-old male patient referred to the Algology department due to chronic back pain who developed what we believe a rare case of persistent hiccup secondary to caudal epidural steroid injection (CESI). The causes of hiccup are many and include electrolyte derangement, nutritional deficiencies, gastrointestinal disorders and instrumentation, cardiovascular disorders, renal impairment, central nervous system disorders, and drugs; however, the cause may be unknown...
July 2017: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/28928500/a-rare-case-of-eagle-syndrome-and-diffuse-idiopathic-skeletal-hyperostosis-in-the-cervical-spine
#7
Peter C Emary, Marshall Dornink, John A Taylor
Published case studies involving diffuse idiopathic skeletal hyperostosis (DISH) along with symptomatic ossification of the stylohyoid ligament, or "Eagle syndrome," are rare. In this report, we document a case of bilateral Eagle syndrome and advanced DISH in the cervical spine of an 80-year-old man who presented with severe neck stiffness and intermittent asphyxia. The key imaging and clinical features of this disorder are also described.
August 2017: Journal of the Canadian Chiropractic Association
https://www.readbyqxmd.com/read/28928499/high-grade-spondylolytic-spondylolisthesis
#8
Peter C Emary, Stefan A Eberspaecher, John A Taylor
Case reports of high-grade spondylolisthesis have been rarely published in the chiropractic literature. Documented here is a case involving a 28-year-old woman who presented to the World Spine Care clinic in the Dominican Republic with minimal neuromusculoskeletal symptoms despite a grade 4 spondylolytic spondylolisthesis. The key imaging and etiological features of this clinical disorder are presented.
August 2017: Journal of the Canadian Chiropractic Association
https://www.readbyqxmd.com/read/28927828/fatty-acid-oxidation-defects-presenting-as-primary-myopathy-and-prominent-dropped-head-syndrome
#9
Seena Vengalil, Veeramani Preethish-Kumar, Kiran Polavarapu, Rita Christopher, Narayanappa Gayathri, Archana Natarajan, Mahadevappa Manjunath, Saraswati Nashi, Chandrajit Prasad, Atchayaram Nalini
Fatty acid oxidation disorders presenting as primary myopathy is relatively rare and also diagnostically challenging. Its association with "dropped head syndrome" is reported till date in single cases of carnitine deficiency and multiple acyl CoA dehydrogenase deficiency (MADD).We studied nineteen cases of primary progressive myopathy confirmed to have fatty acid oxidation defects by Tandem Mass Spectrometry. The detailed clinical, muscle histopathology, tandem mass spectrometry and muscle magnetic resonance imaging (MRI) findings are presented here...
August 24, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28927153/clinicoradiological-characteristics-management-and-prognosis-of-primary-myeloid-sarcoma-of-the-central-nervous-system-a-report-of-four-cases
#10
Bao Yang, Chenlong Yang, Jingyi Fang, Jun Yang, Yulun Xu
Myeloid sarcoma (MS) is a localized tumor composed of premature precursors of granulocytic cells, which may occur in any organ and most commonly involves the soft tissue and musculoskeletal system. This malignancy may occur in the presence or absence of hematological disorders. Primary MS involving the central nervous system (CNS-MS) is rare, and has only been described in a small number of isolated case reports. The diagnosis of CNS-MS is challenging and strategies for its management are undefined. The present study describes 4 cases of CNS-MS...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28926972/juvenile-moyamoya-and-craniosynostosis-in-a-child-with-deletion-1p32p31-expanding-the-clinical-spectrum-of-1p32p31-deletion-syndrome-and-a-review-of-the-literature
#11
Paolo Prontera, Daniela Rogaia, Amedea Mencarelli, Valentina Ottaviani, Ester Sallicandro, Giorgio Guercini, Susanna Esposito, Anna Bersano, Giuseppe Merla, Gabriela Stangoni
Moyamoya angiopathy (MA) is a rare cerebrovascular disorder characterised by the progressive occlusion of the internal carotid artery. Its aetiology is uncertain, but a genetic background seems likely, given the high MA familial rate. To investigate the aetiology of craniosynostosis and juvenile moyamoya in a 14-year-old male patient, we performed an array-comparative genomic hybridisation revealing a de novo interstitial deletion of 8.5 Mb in chromosome region 1p32p31. The deletion involved 34 protein coding genes, including NF1A, whose haploinsufficiency is indicated as being mainly responsible for the 1p32-p31 chromosome deletion syndrome phenotype (OMIM 613735)...
September 17, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28926334/family-phenotypic-heterogeneity-caused-by-mitochondrial-dna-mutation-a3243g
#12
Daniela Alves, Maria Eufémia Calmeiro, Carmo Macário, Rosa Silva
Maternally inherited diabetes and deafness is a rare form of diabetes caused by a mitochondrial DNA mutation. The index case is a 55-year-old woman who was admitted with hypertrophic cardiomyopathy. She had a history of diabetes mellitus and hearing loss. The patient's mother, two brothers and two sisters also had a history of diabetes and hearing loss. This pattern suggests a maternally inherited disorder. All siblings carried the A3243G mitochondrial DNA mutation. The identification of people with monogenic forms of diabetes mellitus is a diagnostic challenge...
August 31, 2017: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28925279/-awareness-of-the-methods-of-primary-and-secondary-childbirth-trauma-prevention-among-parturients
#13
A Veverková, V Kališ, Z Rušavý
OBJECTIVE: To evaluate the awareness of fresh mothers regarding the primary prevention of pelvic floor disorders after childbirth. The secondary objective was to identify sources of information, reality of childbirth trauma prevention and attitude to pelvic floor muscle training. DESIGN: Prospective survey study. SETTING: Department of Gynecology and Obstetrics, University Hospital and Medical Faculty in Pilsen, Charles University. METHODS: We included 202 women after a vaginal delivery at our center from 6/2015 to 12/2015...
2017: Ceská Gynekologie
https://www.readbyqxmd.com/read/28925278/-tubo-ovarian-abscess-in-the-39th-week-of-pregnancy-case-report
#14
A Piegzová, V Unzeitig
OBJECTIVE: A case of tubo-ovarian abscess in a patient with term pregnancy. DESIGN: Case report. SETTING: Department of Obstetrics and Gynaecology, Nemocnice s poliklinikou Karviná Ráj. CASE REPORT: I hereby report a case of a patient in her 39th week of pregnancy hospitalized for abdominal pain and vomiting. Due to unclear aetiology and growing dynamics of inflammatory markers the ending of the pregnancy by induction of labour was indicated...
2017: Ceská Gynekologie
https://www.readbyqxmd.com/read/28924877/diagnostic-approach-to-neurotransmitter-monoamine-disorders-experience-from-clinical-biochemical-and-genetic-profiles
#15
Alice Kuster, Jean-Baptiste Arnoux, Magalie Barth, Delphine Lamireau, Nada Houcinat, Cyril Goizet, Bérénice Doray, Stéphanie Gobin, Manuel Schiff, Aline Cano, Daniel Amsallem, Christine Barnerias, Boris Chaumette, Marion Plaze, Abdelhamid Slama, Christine Ioos, Isabelle Desguerre, Anne-Sophie Lebre, Pascale de Lonlay, Laurence Christa
BACKGROUND AND AIM: To improve the diagnostic work-up of patients with diverse neurological diseases, we have elaborated specific clinical and CSF neurotransmitter patterns. METHODS: Neurotransmitter determinations in CSF from 1200 patients revealed abnormal values in 228 (19%) cases. In 54/228 (24%) patients, a final diagnosis was identified. RESULTS: We have reported primary (30/54, 56%) and secondary (24/54, 44%) monoamine neurotransmitter disorders...
September 18, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28924441/primary-corneoscleral-cyst-in-a-pediatric-patient
#16
Charudutt Kalamkar, Amrita Mukherjee
PURPOSE: Primary corneoscleral cyst is a rare disease occurring in the pediatric age group. We report a case of corneoscleral cyst with visual diminution. METHODS: We conducted a case report. RESULTS: A 7-year-old girl presented with corneal opacity in the left eye. Examination revealed a corneoscleral cyst. The corneal part of the cyst involved visual axis. Surgical excision with a scleral graft was performed, leading to an improvement in visual acuity...
May 2017: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28924292/hemimegalencephaly-with-intractable-epilepsy-a-case-report
#17
Prem Chand, Muhammad Faraz Raghib, Muhammad Sohail Salat, Fazal Manzoor Arain
Isolated Hemimegalencephaly (iHME) is a rare form of congenital malformation of cortical development.It is characterized by enlargement of all or part of one cerebral hemisphere. It typically presents with intractable seizures, mental retardation, developmental delay, contralateral hemiparesis and hemianopia. The patient was a five and half month's old baby girl who presented first with focal seizures at 10th day of life. No other physical or behavioral abnormality was noted. However, Initial EEG showed excessive sharp EEG transients more over the right hemisphere, repeated EEG showed spikes, polyspikes, sharps and slow wave discharges predominately over right hemisphere...
September 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28924127/recurrent-painful-ophthalmoplegic-neuropathy-with-residual-mydriasis-in-an-adult-should-it-be-classified-as-ophthalmoplegic-migraine
#18
Yuya Kobayashi, Yasufumi Kondo, Kana Uchibori, Jun Tsuyuzaki
Recurrent painful ophthalmoplegic neuropathy (RPON) is a rare condition that manifests as headache and ophthalmoplegia. It typically occurs in children. Although migraine or neuropathy have been suggested as etiologies, the precise etiology remains unclear. In the International Classification of Headache Disorders 3rd edition-beta version (ICHD3β) (code 13.9), RPON was categorized into painful cranial neuropathies and other facial pains. We encountered a 48-year-old woman who had diplopia and right ptosis...
September 15, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28924112/isoniazid-induced-pure-red-cell-aplasia-in-a-patient-with-sarcoidosis-a-patient-summary-and-review-of-the-literature
#19
Yasuyuki Saito, Yuri Sawada, Yasuhiko Koga, Noriaki Sunaga, Yusuke Tsukagoshi, Yoshimasa Hachisu, Takashi Osaki, Reiko Sakurai, Kyoichi Kaira, Akihiro Ono, Ken Sato, Hiromi Koiso, Tetsunari Oyama, Takeshi Hisada, Masanobu Yamada
A 41-year-old woman treated with isoniazid (INH) for latent tuberculosis infection and an oral corticosteroid for sarcoidosis developed severe anemia two months after initiating INH. A bone marrow examination showed erythroblastopenia, and a diagnosis of INH-induced pure red cell aplasia (PRCA) was made. Her reticulocyte count and hemoglobin levels improved two weeks after discontinuation of INH. A literature review of INH-induced PRCA shows that it occurs very rarely in the context of autoimmune disorders...
September 15, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28923673/monogenic-autoinflammatory-diseases-general-concepts-and-presentation-in-adult-patients
#20
REVIEW
José Hernández-Rodríguez, Estíbaliz Ruiz-Ortiz, Jordi Yagüe
Monogenic autoinflammatory diseases (AIFD) are rare disorders characterized by an uncontrolled increase of the systemic inflammatory response, which is caused by mutations in genes involved in inflammatory pathways. Over the last few years, new genes and proteins responsible for new monogenic AIFD have been identified and a substantial improvement in their treatment has been achieved. Monogenic AIFD manifestations typically begin during childhood, but they can also occur in adults. Compared to pediatric patients, adults usually present with a less severe disease and fewer long-term complications...
September 15, 2017: Medicina Clínica
keyword
keyword
61500
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"