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https://www.readbyqxmd.com/read/27922248/recessive-congenital-methemoglobinemia-in-immediate-generations
#1
Deniz Aslan, Gülsan Türköz-Sucak, Melanie Joan Percy
We report herein on our observation of recessive congenital methemoglobinemia (type I), an autosomal recessive disorder, in immediate generations (in a mother and her daughter). Molecular analysis revealed a mechanism of inheritance not reported previously, despite the high probability of occurrence in autosomal recessive disorders. This report is also the first publication describing an extremely rare mutation (Arg50Gln) causing this disorder in the Turkish population.
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27922244/a-novel-de-novo-mutation-involving-the-mll2-gene-in-a-kabuki-syndrome-patient-presenting-with-seizures
#2
Can Ebru Bekircan-Kurt, Pelin Özlem Şimşek-Kiper, Koray Boduroğlu, Neşe Dericioğlu
Kabuki syndrome is a rare multiple congenital anomaly disorder. Although mental retardation is one of the main features, various neurological symptoms such as hypotonia and seizures can occur. Here we report on a 18-year-old Turkish male patient who was diagnosed previously as Kabuki syndrome. Molecular genetic analysis showed a novel de novo heterozygous mutation (c.12964C > T [p.Gln4322*] ) in the MLL2 gene, that leads to the synthesis of a truncated protein. The aim of the present report is to increase the awareness of Kabuki Syndrome among adult neurologists and to present a previously unreported non-sense mutation in the MLL2 gene...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27921278/bronchobiliary-fistula-caused-after-hepatectomy-for-hepatocellular-carcinoma-a-case-report
#3
Seikan Hai, Yuji Iimuro, Tadamichi Hirano, Kazuhiro Suzumura, Akito Yada, Jiro Fujimoto
BACKGROUND: A bronchobiliary fistula, an intercommunication between the biliary tract and bronchial trees, is an extremely rare complication after hepatectomy. CASE PRESENTATION: A 70-year-old male underwent partial resection of the liver for recurrent hepatocellular carcinoma under a thoracoabdominal approach. The immediate postoperative clinical course was uneventful, but the patient was febrile and laboratory examinations revealed leukocytosis on the 15th postoperative day...
December 2016: Surgical Case Reports
https://www.readbyqxmd.com/read/27921004/a-rare-case-of-gestational-gigantomastia-with-hypercalcemia-the-challenges-of-management-and-follow-up
#4
Bahram Moazzami, Shahla Chaichian, Mohammad Reza Farahvash, Saeedeh Taheri, Seyed Ali Ahmadi, Majid Mokhtari, Kourosh Sheibani
BACKGROUND: Gigantomastia is a breast disorder marked by exaggerated rapid growth of the breasts, generally bilaterally. Since this disorder is very rare and has been reported only in sparse case reports its etiology has yet to be fully established. Treatment is aimed at improving the clinical and psychological symptoms and reducing the treatment side effects; however, the best therapeutic option varies from case to case. CASE PRESENTATION: The present report described a case of gestational gigantomastia in a 30-year-old woman, gravida 2, parity 1, 17 week pregnant admitted to Pars Hospital, Tehran, Iran, on May 2014...
October 2016: Journal of Reproduction & Infertility
https://www.readbyqxmd.com/read/27920870/pyle-disease-metaphyseal-dysplasia-presenting-in-two-adult-sisters
#5
Diego Ximenes Soares, Amália Mapurunga Almeida, André Rodrigues Façanha Barreto, Ilze Jucá Alencar E Silva, José Daniel Vieira de Castro, Francisco José Magalhães Pinto, Daniel Aguiar Dias, Lindenberg Barbosa Aguiar
Pyle's disease is an extremely rare skeletal disorder characterized by a benign course and an autosomal recessive genetic pattern of inheritance. Its causal mutation is still unknown. In the medical literature, fewer than 30 cases have been described to date. We report the case of two female siblings, daughters of consanguineous parents, referred to the radiology department complaining of genu valgum. Laboratory tests showed no other relevant findings. Conventional radiography plain films revealed Erlenmeyer flask deformity in bilateral femorotibial metaphyses, metaphyseal flaring of long bones, and mild sclerosis of the skull base...
December 2016: Radiology case reports
https://www.readbyqxmd.com/read/27920829/clinical-and-genetic-features-of-australian-families-with-long-qt-syndrome-a-registry-based-study
#6
Charlotte Burns, Jodie Ingles, Andrew M Davis, Vanessa Connell, Belinda Gray, Lauren Hunt, Julie McGaughran, Christopher Semsarian
BACKGROUND: Familial long QT syndrome (LQTS) is a primary arrhythmogenic disorder caused by mutations in ion channel genes. The phenotype ranges from asymptomatic individuals to sudden cardiac arrest and death. LQTS is a rare but significant health problem for which global data should exist. This study sought to provide the first clinical and genetic description of Australian families with LQTS. METHODS: We performed a cross-sectional study to evaluate clinical and genetic features of families with LQTS...
December 2016: Journal of Arrhythmia
https://www.readbyqxmd.com/read/27920806/hereditary-multiple-exostoses-a-review-of-clinical-appearance-and-metabolic-pattern
#7
REVIEW
Giovanni Beltrami, Gabriele Ristori, Guido Scoccianti, Angela Tamburini, Rodolfo Capanna
Hereditary multiple exostoses (HME) is an inherited genetic condition characterized by the presence of multiple exostoses (osteochondromas). MHE is a relatively rare autosomal dominant disorder, mainly caused by loss of function mutations in two genes: exostosin-1 (EXT1) and exostosin-2 (EXT2). These genes are linked to heparan sulfate (HS) synthesis, but the specific molecular mechanism leading to the disruption of the cartilage structure and the consequent exostoses formation is still not resolved. The aim of this paper is to encounter the main aspects of HME reviewing the literature, in order to improve clinical features and evolution, and the metabolic-pathogenetic mechanisms underlying...
May 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/27920686/single-agent-carboplatin-for-a-rare-case-of-pilomyxoid-astrocytoma-of-the-spinal-cord-in-an-adult-with-neurofibromatosis-type-1
#8
Anastasie M Dunn-Pirio, Elizabeth Howell, Roger E McLendon, Katherine B Peters
INTRODUCTION: Pilomyxoid astrocytoma (PMA) is a rare and more aggressive variant of pilocytic astrocytoma, which usually affects young children and is most often located in the hypothalamic/chiasmatic region. The association of PMA with underlying genetic disorders is not well known. METHODS: We identified a 23-year-old woman with a PMA of the spinal cord who was simultaneously diagnosed with neurofibromatosis type 1. Diagnosis of neurofibromatosis type 1 was made clinically and confirmed with genetic testing that revealed a heterozygous one-amino-acid deletion (c...
September 2016: Case Reports in Oncology
https://www.readbyqxmd.com/read/27920654/a-rare-cause-of-pulmonary-nodules
#9
Michael Tsuyoshi Chew, Eric Chak, Karen Matsukuma
Crohn's disease is a chronic, idiopathic autoimmune disorder that primarily targets the gastrointestinal (GI) system. It is characterized by transmural inflammation of the GI tract that can occur anywhere from the mouth to the anus. Not infrequently, the disease may also have extraintestinal manifestations (EIMs) that can affect almost any organ system. It is estimated that EIMs affect up to 36% of patients with Crohn's disease, but the incidence and prevalence of pulmonary involvement are variable in the literature and may be as low as 0...
September 2016: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/27920645/autoimmune-pancreatitis-a-case-of-atypical-radiographic-findings
#10
Shawhin Karimi, Parth Bharill
Autoimmune pancreatitis (AIP) is a rare pancreatic disorder that can present as a manifestation of a broader systemic inflammatory disease known as immunoglobulin G4-related systemic disease (IGG4-RSD). AIP is divided into two subtypes based on clinical, radiological, and histological findings. The disease can be mistaken for pancreatic cancer because of overlapping clinical and radiological findings, but early recognition can help avoid unnecessary surgery. We present a case of a 65-year-old female with suspected acute gallstone pancreatitis found to have AIP based on serology, radiological findings, and response to steroids...
September 2016: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/27920633/lesch-nyhan-syndrome-models-theories-and-therapies
#11
REVIEW
Scott Bell, Ilaria Kolobova, Liam Crapper, Carl Ernst
Lesch-Nyhan syndrome (LNS) is a rare X-linked disorder caused by mutations in HPRT1, an important enzyme in the purine salvage pathway. Symptoms of LNS include dystonia, gout, intellectual disability, and self-mutilation. Despite having been characterized over 50 years ago, it remains unclear precisely how deficits in hypoxanthine and guanine recycling can lead to such a profound neurological phenotype. Several studies have proposed different hypotheses regarding the etiology of this disease, and several treatments have been tried in patients, though none have led to a satisfactory explanation of the disease...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27920593/slipped-capital-femoral-epiphysis-and-primary-hyperparathyroidism-a-case-report
#12
Anas A Alghamdi, Maswood M Ahmad, Mussa H Almalki
The aim of reporting this case is to highlight the association of two disorders, primary hyperparathyroidism (PHPT) and slipped capital femoral epiphysis (SCFE). They are usually seen in two different age groups and rarely together. PHPT is a rare cause of SCFE and only 10 cases have been reported in the literature worldwide. The patient in our report is a 13-year-old girl who presented to our clinic with bilateral knee pain and a waddling gait. Subsequent investigations showed that she had PHPT and SCFE with low bone mass...
2016: Clinical Medicine Insights. Endocrinology and Diabetes
https://www.readbyqxmd.com/read/27920540/treatment-cost-of-narcolepsy-with-cataplexy-in-central-europe
#13
Petra Maresova, Michal Novotny, Blanka Klímová, Kamil Kuča
BACKGROUND: Narcolepsy is a lifelong, rare neurological sleep disorder characterized by chronic, excessive attacks of daytime sleepiness. This disease is often extremely incapacitating, interfering with every aspect of life, in work and social settings. OBJECTIVE: The purpose of this study is to specify the treatment costs of patients in Central Europe (Czech Republic), while the attention is mainly paid to the drugs that were fully or partially covered by public health insurance...
2016: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/27920486/choroidal-and-skin-metastases-from-colorectal-cancer
#14
Joo Young Ha, Edward Hynseung Oh, Moon Ki Jung, Song Ee Park, Ji Tak Kim, In Gyu Hwang
Choroidal and skin metastasis of colon cancer is rare. In women, the frequency of cutaneous metastasis from colon cancer as the primary lesion in is 9% and skin metastasis occurs in 0.81% of all colorectal cancers. We report a patient with colonic adenocarcinoma who presented with visual disorder in her right eye and scalp pain as her initial symptoms. Contrast-enhance orbital magnetic resonance imaging with fat suppression revealed an infrabulbar mass, and skin biopsy of the posterior parietal scalp confirmed adenocarcinoma...
November 21, 2016: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/27919796/the-bad-seed-gardener-deubiquitinases-in-the-cancer-stem-cell-signaling-network-and-therapeutic-resistance
#15
REVIEW
Guan-Zhong Qiu, Wei Sun, Ming-Zhu Jin, Jing Lin, Pei-Gang Lu, Wei-Lin Jin
Tumors are comprised of highly heterogeneous populations of cells, of which only a small subset of stem-like cells possess the ability to regenerate tumors in vivo. These rare cancer stem cells (CSCs) have been regarded as the "bad seeds" accounted for tumor initiation, progression, metastasis, relapse and therapeutic resistance. CSC-targeted therapy seems to be a better avenue for radical cure of cancer. Deubiquitinases (DUBs), specifically disassembling ubiquitin chains, have been demonstrated to play an important role in rigidly maintaining the balance between ubiquitination and deubiquitination for protein quality control and homeostasis in normal circumstances...
December 2, 2016: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/27919468/somatic-gnaq-mutation-is-enriched-in-brain-endothelial-cells-in%C3%A2-sturge-weber-syndrome
#16
Lan Huang, Javier A Couto, Anna Pinto, Sanda Alexandrescu, Joseph R Madsen, Arin K Greene, Mustafa Sahin, Joyce Bischoff
BACKGROUND: Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial and extracraniofacial capillary malformations and capillary-venule malformations in the leptomeninges. A somatic mosaic mutation in GNAQ (c.548G>A; p.R183Q) was found in SWS brain and skin capillary malformations. Our laboratory showed endothelial cells in skin capillary malformations are enriched for the GNAQ mutation. The purpose of this study is to determine whether the GNAQ mutation is also enriched in endothelial cells in affected SWS brain...
October 21, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27919341/human-epidermal-stem-cells-role-in-adverse-skin-reactions-and-carcinogenesis-from-radiation
#17
Michèle T Martin, Adeline Vulin, Jolyon H Hendry
In human skin, keratinopoiesis is based on a functional hierarchy among keratinocytes, with rare slow-cycling stem cells responsible for the long-term maintenance of the tissue through their self-renewal potential, and more differentiated daughter progenitor cells actively cycling to permit epidermal renewal and turn-over every month. Skin is a radio-responsive tissue, developing all types of radiation damage and pathologies, including early tissue reactions such as dysplasia and denudation in epidermis, and later fibrosis in the dermis and acanthosis in epidermis, with the TGF-beta 1 pathway as a known master switch...
October 2016: Mutation Research
https://www.readbyqxmd.com/read/27919056/autoimmune-choreas
#18
REVIEW
Francisco Cardoso
Chorea, a movement disorder characterised by a continuous flow of unpredictable muscle contractions, has a myriad of genetic and non-genetic causes. Although autoimmune processes are rare aetiology of chorea, they are relevant both for researchers and clinicians. The aim of this article is to provide a review of the epidemiology, clinical and laboratory features, pathogenesis and management of the most common autoimmune causes of chorea. Emphasis is given particularly to Sydenham's chorea, systemic lupus erythematosus, primary antiphospolipid antibody syndrome, paraneoplastic chorea and anti-N-methyl-d-aspartate receptor encephalitis...
December 1, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27918349/soft-palate-ulcer-an-unusual-presentation-of-a-posttransplant-lymphoproliferative-disorder
#19
Maryam Bahmanyar, Nader Shakibazad, Mohammad Hadi Imanieh, Seyed Mohsen Dehghani
Posttransplant lymphoproliferative disorder (PTLD) is a serious complication of solid organ transplantation. It has several clinical manifestations, including infectious mononucleosis-like syndrome, lymphadenopathy, and other organ involvement. Soft palate ulcer is a rare manifestation of PTLD. The aim of this study is to present a 17-year-old girl with liver transplantation due to metastatic liver disease. After transplantation, she presented with a painful whitish ulcerative lesion accompanied by central necrosis in the right soft palate area measuring about 3 cm×3...
December 1, 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/27918165/-sarcoidosis-of-the-female-genital-tract
#20
A Šefčíková, M Turková, M Žurková
OBJECTIVE: To present the findings of sarcoidosis on female genital tract. DESIGN: Review. SETTING: Department of Obstetric and Gynecology, Silesian Hospital Opava. METHODS: Overview of published findings from case studies. CONCLUSION: Sarcoidosis is a multisystem granulomatous disorder of unclear cause. It typically involves the lymph nodes of mediastinum, predominantly billateral and/or pulmonary infiltrates...
2016: Ceská Gynekologie
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