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https://www.readbyqxmd.com/read/28743127/a-rare-presentation-of-immunoglobulin-a-nephropathy-acute-kidney-injury
#1
Meric Oruc, Haydar Durak, Serkan Feyyaz Yalin, Nurhan Seyahi, Mehmet Rıza Altıparmak, Sinan Trabulus
BACKGROUND: Acute kidney injury (AKI) is known as an uncommon presentation in immunoglobulin A nephropathy (IgAN). The aim of our study was to analyze the clinical data and biopsy findings in IgAN patients presenting with AKI. METHODS: We performed a retrospective analysis of all subjects who had biopsy-proven IgAN and presented with AKI during June 2002 September 2015. The following data were obtained from medical records. RESULTS: A total of 15 patients of 123 patients (12...
July 26, 2017: Nephron
https://www.readbyqxmd.com/read/28742792/evidence-for-genetic-association-between-chromosome-1q-loci-and-predisposition-to-colorectal-neoplasia
#2
Stephanie A Schubert, Dina Ruano, Fadwa A Elsayed, Arnoud Boot, Stijn Crobach, Arantza Farina Sarasqueta, Bruce Wolffenbuttel, Melanie M van der Klauw, Jan Oosting, Carli M Tops, Ronald van Eijk, Hans Fa Vasen, Rolf Ham Vossen, Maartje Nielsen, Sergi Castellví-Bel, Clara Ruiz-Ponte, Ian Tomlinson, Malcolm G Dunlop, Pavel Vodicka, Juul T Wijnen, Frederik J Hes, Hans Morreau, Noel Fcc de Miranda, Rolf H Sijmons, Tom van Wezel
BACKGROUND: A substantial fraction of familial colorectal cancer (CRC) and polyposis heritability remains unexplained. This study aimed to identify predisposing loci in patients with these disorders. METHODS: Homozygosity mapping was performed using 222 563 SNPs in 302 index patients with various colorectal neoplasms and 3367 controls. Linkage analysis, exome and whole-genome sequencing were performed in a family affected by microsatellite stable CRCs. Candidate variants were genotyped in 10 554 cases and 21 480 controls...
July 25, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28742528/rare-diseases-on-the-plastic-surgery-in-service-training-examination
#3
Nishant Ganesh Kumar, Brian C Drolet, Scott D Lifchez, Sean Bidic
No abstract text is available yet for this article.
July 24, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28742517/type-1-rhizomelic-chondrodysplasia-punctata-with-a-homozygous-pex7-mutation
#4
Nursel Muratoğlu Şahin, Meliha Esra Bilici, Erdal Kurnaz, Melek Pala Akdoğan, Serdar Ceylaner, Zehra Aycan
INTRODUCTION: Rhizomelic chondrodysplasia punctata (RCDP) is a rare peroxisomal disease characterised by punctate calcifications of non-ossified cartilage epiphyseal centres. The main biochemical marker of all RCDP types is a decrease in the levels of plasmalogens. Additionally, the accumulation of phytanic acid can be used as a differential marker between types of RDCP. Due to the biochemical overlap between types 1 and 5 RCDP, a genetic analysis of these genes should be performed in patients to identify the type...
July 25, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28742514/the-importance-of-biochemical-and-genetic-findings-in-the-diagnosis-of-atypical-norrie-disease
#5
Ana Rodríguez-Muñoz, Gema García-García, Francisco Menor, José M Millán, Miguel Tomás-Vila, Teresa Jaijo
BACKGROUND: Norrie disease (ND) is a rare X-linked disorder characterized by bilateral congenital blindness. ND is caused by a mutation in the Norrie disease pseudoglioma (NDP) gene, which encodes a 133-amino acid protein called norrin. Intragenic deletions including NDP and adjacent genes have been identified in ND patients with a more severe neurologic phenotype. We report the biochemical, molecular, clinical and radiological features of two unrelated affected males with a deletion including NDP and MAO genes...
July 25, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28742309/knowledge-of-rare-diseases-among-health-care-students-%C3%A2-the-effect-of-targeted-education
#6
Kamil Jonas, Marcin Waligóra, Mateusz Hołda, Joanna Sulicka-Grodzicka, Magdalena Strach, Piotr Podolec, Grzegorz Kopeć
BACKGROUND: Poor knowledge on rare diseases (RD) results in a significant delay in their diagnosis and treatment. So far there are no standards of university education in RD. We assessed knowledge on RD among healthcare students and the effectiveness of targeted education. METHODS: We conducted an internet-based survey among students of the faculty of medicine, pharmacy and health sciences. Questions regarded personal information, definition and epidemic data on RD...
2017: Przegla̧d Epidemiologiczny
https://www.readbyqxmd.com/read/28742119/doestrare-a-statistical-test-to-identify-local-enrichments-in-rare-genomic-variants-associated-with-disease
#7
Elodie Persyn, Matilde Karakachoff, Solena Le Scouarnec, Camille Le Clézio, Dominique Campion, French Exome Consortium, Jean-Jacques Schott, Richard Redon, Lise Bellanger, Christian Dina
Next-generation sequencing technologies made it possible to assay the effect of rare variants on complex diseases. As an extension of the "common disease-common variant" paradigm, rare variant studies are necessary to get a more complete insight into the genetic architecture of human traits. Association studies of these rare variations show new challenges in terms of statistical analysis. Due to their low frequency, rare variants must be tested by groups. This approach is then hindered by the fact that an unknown proportion of the variants could be neutral...
2017: PloS One
https://www.readbyqxmd.com/read/28741872/breast-disease-in-men-in-metropolitan-s%C3%A3-o-paulo-brazil
#8
Renata Thaís de Almeida Barbosa, Maria Auxiliadora F Vertamatti, Claudia Arab, Tânia Brusque Crocetta, Ricardo Lencioni Mazzei, Ivo Carelli Filho, Ricardo Faure, Izabella Brandão Mendes, Luiz Carlos de Abreu
Although rare, breast cancer in males represents 1% of all cancer in men, and has shown increasing incidence in 25 years. To analyze age, gender, type of procedure performed and diagnosis of all cases of breast diseases in a public hospital in Sao Paulo, Brazil, with special focus on men. Cross-sectional study of breast surgery in 2010-2014 at Hospital Municipal Universitario de Sao Bernardo do Campo, Brazil. In the period 999 breast surgery were carried out. Patients with benign diseases were about 30 years old and patients with malignant diseases were over 50...
July 25, 2017: Breast Journal
https://www.readbyqxmd.com/read/28741585/a-fatal-case-of-metastatic-squamous-cell-carcinoma-in-a-patient-with-myositis-ossificans-traumatica
#9
I N Vlasveld, H Scheper, J Stalenhoef, J M Baas, J van Dissel
Myositis ossificans traumatica is a rare disease associated with chronic wounds and fistulae. Chronic ulcers, fistulae and wounds can transform into squamous cell carcinoma, the so-called Marjolin's ulcer. We describe a rapid, progressive and fulminant course of a metastatic squamous cell carcinoma arising from a chronic wound in a patient with myositis ossificans traumatica.
July 2017: Netherlands Journal of Medicine
https://www.readbyqxmd.com/read/28741461/the-enzymatic-degradation-of-heparan-sulfate
#10
Laura Griffin, Tracey Gloster
Glycosaminoglycans (GAGs) such as heparan sulfate (HS) interact with a number of factors in the extracellular matrix (ECM) and as a consequence play a key role in the metabolic processes occurring within the cell. The dynamic synthesis and degradation of HS (and all GAGs) are necessary for ensuring that optimal chains are present for these functions. The degradation of HS begins at the cell surface and finishes in the lysosome, after which components can be recycled. Deficiencies or mutations in the lysosomal enzymes that process GAGs result in rare Mucopolysaccharidoses disorders (MPSs)...
July 24, 2017: Protein and Peptide Letters
https://www.readbyqxmd.com/read/28741180/loss-of-nhej1-protein-due-to-a-novel-splice-site-mutation-in-a-family-presenting-with-combined-immunodeficiency-microcephaly-and-growth-retardation-and-literature-review
#11
Farrukh Sheikh, Abbas Hawwari, Safa Alhissi, Sulaiman Al Gazlan, Hasan Al Dhekri, Agha M Rehan Khaliq, Esteban Borrero, Lina El-Baik, Rand Arnaout, Hamoud Al-Mousa, Anas M Alazami
INTRODUCTION: Non-homologous end joining gene 1 (NHEJ1) defect is a rare form of primary immune deficiency. Very few cases have been described from around the world. PURPOSE: We are reporting the first family from the Arabian Gulf with three siblings presenting with combined immunodeficiency (CID), microcephaly, and growth retardation due to a novel NHEJ1 splice site mutation, in addition to a review of the previously published literature on this subject. METHODS: Patients' clinical, immunological, and laboratory features were examined...
July 24, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28741119/treatable-genetic-metabolic-epilepsies
#12
REVIEW
Lama Assi, Youssef Saklawi, Pascale E Karam, Makram Obeid
In the absence of a culprit epileptogenic lesion, pharmacoresistant seizures should prompt the physician to consider potentially treatable metabolic epilepsies, especially in the presence of developmental delays. Even though the anti-seizure treatment of the epilepsies remains symptomatic and usually tailored to an electroclinical phenotype rather than to an underlying etiology, a thorough metabolic workup might reveal a disease with an etiology-specific treatment. Early diagnosis is essential in the case of treatable metabolic epilepsies allowing timely intervention...
September 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/28741088/the-autoimmune-inflammatory-syndrome-induced-by-adjuvants-asia-shoenfeld-s-syndrome-descriptive-analysis-of-300-patients-from-the-international-asia-syndrome-registry
#13
Abdulla Watad, Mariana Quaresma, Nicola Luigi Bragazzi, Ricard Cervera, Jan Willem Cohen Tervaert, Howard Amital, Yehuda Shoenfeld
The autoimmune/inflammatory syndrome induced by adjuvants (ASIA) is a recently identified condition in which the exposure to an adjuvant leads to an aberrant autoimmune response. We aimed to summarize the results obtained from the ASIA syndrome registry up to December 2016, in a descriptive analysis of 300 cases of ASIA syndrome, with a focus on the adjuvants, the clinical manifestations, and the relationship with other autoimmune diseases. A Web-based registry, based on a multicenter international study, collected clinical and laboratory data in a form of a questionnaire applied to patients with ASIA syndrome...
July 25, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28740966/portal-vein-thrombosis-as-a-rare-cause-of-abdominal-pain-when-to-consider
#14
Cengiz Tavusbay, Erdinç Kamer, Turan Acar, İbrahim Kokulu, Haldun Kar, Özlem Gür
Extrahepatic portal vein thrombosis (PVT) is a rare condition that is characterized by the presence of thrombus within any segment of the portal vein, including the right and left intrahepatic branches. It may also extend to the splenic or superior mesenteric veins. Portal vein thrombosis may be related to cirrhosis or liver malignancy as well as to local inflammatory conditions in the abdomen and genetic or acquired thrombophilic diseases. Currently, PVT is being increasingly diagnosed due to advances in modern imaging techniques...
2017: Turk J Surg
https://www.readbyqxmd.com/read/28740965/a-rare-cause-of-acute-abdomen-chylous-ascites
#15
Cemal Kaya, Pınar Yazıcı, Kinyas Kartal, Emre Bozkurt, Mehmet Mihmanlı
Chylous ascites, defined as a lipid-rich fluid accumulation in the peritoneal cavity, is a rare pathology of the lymphatic system and is a very rare cause of acute abdomen. It is generally associated with diseases such as cancer, cirrhosis, inflammatory diseases, surgery, or trauma. In this study, we report a patient with chylous ascites, which mimics acute appendicitis. Diagnosis and treatment procedures were discussed.
2017: Turk J Surg
https://www.readbyqxmd.com/read/28740840/bicytopenia-and-leukoerythroblastosis-a-rare-initial-presentation-of-signet-ring-cell-gastric-adenocarcinoma
#16
REVIEW
Vilma Takayasu, Edna Harumi Goto, Mayra Zanon Casagrande, Paulo Guilherme de Arruda Miranda, Gabriela Bezerra de Freitas Diniz, Micaela Frasson Monteiro, Aloisio Felipe-Silva
Gastric adenocarcinoma is a common neoplasia and is responsible for up to 30% of the overall deaths due to cancer. Advanced disease is mostly characterized by peritoneum, liver, and lung involvement. The spread of the disease to the bone is rare, and bone marrow dissemination is even rarer. In this setting, leukoerythroblastosis may be the initial manifestation of the disease. The authors report the case of a 64-year-old Caucasian man who sought medical care complaining of back pain, weakness, and weight loss...
April 2017: Autopsy & case reports
https://www.readbyqxmd.com/read/28740839/primary-pelvic-hydatid-cyst-in-a-postmenopausal-female-a-surgical-challenge
#17
Sayanti Paul, Saumen Mandal, Mansi Upadhyaya, Sumit Ranjan Pramanik, Subhas Chandra Biswas, Ranu Roy Biswas
Primary pelvic hydatid cysts are a rare entity and are often overlooked as a differential diagnosis of a pelvic-space-occupying lesion particularly in non-endemic regions. Unpreparedness and a hasty decision on the surgical approach may end in life-threatening complications and systemic dissemination of the disease. We report the case of a 55-year-old postmenopausal woman with a history of two previous unsuccessful surgeries to remove pelvic cystic lesions due to dense adhesions between the surrounding gut wall, bladder, and the cyst wall...
April 2017: Autopsy & case reports
https://www.readbyqxmd.com/read/28740838/a-rare-case-of-centronuclear-myopathy-with-dnm2-mutation-genotype-phenotype-correlation
#18
REVIEW
Amir Ghorbani Aghbolaghi, Mirna Lechpammer
Centronuclear myopathy (CNM) is a group of rare genetic muscle disorders characterized by muscle fibers with centrally located nuclei. The most common forms of CNM have been attributed to X-linked recessive mutations in the MTM1 gene; autosomal-dominant mutations in the DNM2 gene-encoding dynamin-2, the BIN1 gene; and autosomal-recessive mutations in BIN1, RYR1, and TTN genes. Dominant CNM due to DNM2 mutations usually follows a mild clinical course with the onset in adolescence. Currently, around 35 mutations of the DNM2 gene have been identified in CNM; however, the underlying molecular mechanism of DNM2 mutation in the pathology of CNM remains elusive, and the standard clinical characteristics have not yet been defined...
April 2017: Autopsy & case reports
https://www.readbyqxmd.com/read/28740836/mycotic-aneurysm-with-aortoduodenal-fistula
#19
REVIEW
Bruno Kusznir Vitturi, Amanda Frias, Raphael Sementilli, Marcelo de Castro Jorge Racy, Roberto Augusto Caffaro, Geanete Pozzan
Firstly described in the 19th century by Sir William Osler, the mycotic aneurysm (MA) is a rare entity characterized by an abnormal arterial dilation, which is potentially fatal, and is associated with the infection of the vascular wall. Elderly patients are mostly involved, especially when risk factors like chronic diseases, immunosuppression, neoplasia, and arterial manipulation are associated. The authors report the case of a young male patient diagnosed with an aortic aneurysm of infectious origin in the presence of repeated negative blood cultures...
April 2017: Autopsy & case reports
https://www.readbyqxmd.com/read/28740834/a-second-reported-malignancy-in-a-patient-with-morquio-syndrome
#20
REVIEW
Ameer Hamza, Sidrah Khawar, Ahmad Ibrahim, Jacob Edens, Crystal Lalonde, Robert D Danforth
Morquio syndrome is a rare lysosomal storage disease that affects multiple organ systems. However, it is rarely associated with malignancy. We present the case of a 30-year old man with Morquio syndrome associated with gastric adenocarcinoma. This case also demonstrates two other findings that have not been previously described in patients with Morquio syndrome - malrotation of brainstem and cerebellum, without clinical neurologic deficit, and persistence of fetal lobulation in the kidneys.
April 2017: Autopsy & case reports
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