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rare diseases

Mohamed Abdel Wahab, Ahmed Shehta, Reham Adly, Mohamed Elshoubary, Tarek Salah, Amr M Yassen, Mohamed Elmorshedi, Moataz M Emara, Mostafa Abdelkhalek, Mahmoud Elsedeiq, Usama Shiha, Ahmed N Elghawalby, Mohamed Eldesoky, Ahmed Monier, Rami Said
INTRODUCTION: Biliary reconstruction is a cornerstone of living-donor liver transplantation (LDLT). The routine uses of trans-anastomotic biliary catheters in biliary reconstruction had been a controversial issue. We describe a rare complication related to the use of trans-anastomotic biliary catheter after LDLT. In this case, intestinal obstruction occurred early after LDLT due to internal herniation of the small bowel around trans-anastomotic biliary catheter. PRESENTATION: A 42 years male patient with end stage liver disease underwent LDLT utilizing a right hemi-liver graft...
June 28, 2018: International Journal of Surgery Case Reports
Sirwan K L Darweesh, M Kamran Ikram, Marjan J Faber, Nienke M de Vries, Charlotte A Haaxma, Albert Hofman, Peter J Koudstaal, Bastiaan R Bloem, M Arfan Ikram
BACKGROUND: Creativity in Parkinson Disease (PD) is strongly related to dopaminergic activity and medication. We hypothesized that PD patients, including those who are in the prediagnostic phase of PD, are prone to choose highly-structured 'conventional' professional occupations and avoid highly-creative 'artistic' occupations. METHODS: At baseline of the population-based Rotterdam Study, we asked 12,147 individuals aged >45 years about their latest occupation, and categorized occupations according to the RIASEC model...
July 14, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Teiko Sakurai, Hidenori Kusumoto, Tomoko Wakasa, Yoshio Ohta, Eiichi Konishi, Hiroyuki Shiono
BACKGROUND: Epithelioid sarcoma (ES) is a rare variant of soft tissue sarcoma. The proximal type of ES occurs in various locations. We present a resected case with proximal-type ES that occurred in the chest wall and discuss the relevant literature. CASE PRESENTATION: A 47-year-old woman was referred for a 6-month history of a right anterior chest mass with tenderness. Chest computed tomography showed an invasive chest wall mass with calcification surrounding the third rib...
July 13, 2018: Surgical Case Reports
Marion Ferreira, Eric Pichon, Delphine Carmier, Emilie Bouquet, Cécile Pageot, Theodora Bejan-Angoulvant, Marion Campana, Emmanuelle Vermes, Sylvain Marchand-Adam
Immunotherapy medications that target programmed death 1 protein (PD-1) and programmed death-ligand 1 (PD-L1), such as nivolumab, pembrolizumab, and atezolizumab, are currently used in the first- or second-line treatment of non-small cell lung cancers, among other indications. However, these agents are associated with immune-related side effects, the most common of which are endocrinopathies, colitis, hepatitis, and interstitial pneumonitis. In contrast, coronary toxicities are rarely reported and remain poorly understood...
July 13, 2018: Targeted Oncology
Sergio Fersino, Stefano Arcangeli, Barbara Alicja Jereczek-Fossa, Rolando D'Angelillo, Filippi Bertoni, Giuseppe Roberto D'Agostino, Luca Triggiani, Renzo Corvò, Stefano Maria Magrini, Filippo Alongi
AIMS: To investigate the role of Radiation Oncology in the management of genito-urinary (GU) cancer excluding prostate and penile cancer. METHODS: The questionnaire was focused on the evaluation of the degree of involvement of radiation oncologists in the work-up of bladder, renal cell carcinoma and testicular cancer (TC). RESULTS: Eighty-eight radiation oncologists completed the survey. The majority (85.4%) of participating radiation oncologists were senior consultants (> 5 years of experience)...
July 13, 2018: La Radiologia Medica
Marianthi Breza, Georgios Koutsis
Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a rare, X-linked hereditary lower motor neuron disease, characterized by progressive muscular weakness. An expanded trinucleotide repeat (CAG > 37) in the androgen receptor gene (AR), encoding glutamine, is the mutation responsible for Kennedy's disease. Toxicity of this mutant protein affects both motor neurons and muscles. In this review, we provide a comprehensive, clinically oriented overview of the current literature regarding Kennedy's disease, highlighting gaps in our knowledge that remain to be addressed in further research...
July 13, 2018: Journal of Neurology
Özlem Şahin, Pembe Oltulu
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis with lipid-laden macrophages and fibrosis. Although ECD is a multisystemic disease, the most common finding is sclerotic bone involvement in the diametaphyseal regions of bilateral distal femur and in proximal and distal tibia. We present a 40 years old woman who for the last two years had various systemic symptoms, especially knee pain, polyuria and polydipsia. Although a "hot knee" pattern was seen in bone scintigraphy (BS), a femur biopsy was performed, due to the preliminary diagnosis of haematologic malignancy...
July 12, 2018: Hellenic Journal of Nuclear Medicine
Inneke Willekens, Stefaan J Vandecasteele, Kristof Verhoeven, Frank De Geeter
Erythromelalgia is a rare condition characterized by attacks of intensely painful, red and warm feet and/or hands. Symptoms typically are triggered by heat and relieved by cooling of the extremities. Primary cases are due to mutations in the gene for a sodium channel expressed in nociceptive and sympathetic ganglion neurons; secondary causes include blood disorders, infections, drugs, connective tissue diseases, neuropathic diseases, including diabetic neuropathy, and malignancies. We present bone scan findings in a case of erythromelalgia in an 18 years old student, in whom the symptoms developed suddenly...
July 12, 2018: Hellenic Journal of Nuclear Medicine
Chao Miao, Lei Zhang, Ming Sun, Chao Ma
A 3 years old boy was hospitalized with a month's history of polydipsia, polyuria and low fever. There was no relevant family history. This is a rare case of Langerhans cell histiocytosis (LCH) with both bone and pituitary infiltration shown on the technetium-99m methylene diphosphonate (99m Tc-MDP) scan and brain magnetic resonance imaging (MRI). Sagittal and coronal T1-weighted images on MRI showed the typical lack of high signal intensity of the posterior pituitary which corresponded to the central signs of diabetes insipidus (DI)...
July 12, 2018: Hellenic Journal of Nuclear Medicine
Zhongxing Zhang, Geert Mayer, Yves Dauvilliers, Giuseppe Plazzi, Fabio Pizza, Rolf Fronczek, Joan Santamaria, Markku Partinen, Sebastiaan Overeem, Rosa Peraita-Adrados, Antonio Martins da Silva, Karel Sonka, Rafael Del Rio-Villegas, Raphael Heinzer, Aleksandra Wierzbicka, Peter Young, Birgit Högl, Claudio L Bassetti, Mauro Manconi, Eva Feketeova, Johannes Mathis, Teresa Paiva, Francesca Canellas, Michel Lecendreux, Christian R Baumann, Lucie Barateau, Carole Pesenti, Elena Antelmi, Carles Gaig, Alex Iranzo, Laura Lillo-Triguero, Pablo Medrano-Martínez, José Haba-Rubio, Corina Gorban, Gianina Luca, Gert Jan Lammers, Ramin Khatami
Narcolepsy is a rare life-long disease that exists in two forms, narcolepsy type-1 (NT1) or type-2 (NT2), but only NT1 is accepted as clearly defined entity. Both types of narcolepsies belong to the group of central hypersomnias (CH), a spectrum of poorly defined diseases with excessive daytime sleepiness as a core feature. Due to the considerable overlap of symptoms and the rarity of the diseases, it is difficult to identify distinct phenotypes of CH. Machine learning (ML) can help to identify phenotypes as it learns to recognize clinical features invisible for humans...
July 13, 2018: Scientific Reports
Yehuda Galili, Meghan Lytle, Steve Carlan, Mario Madruga
BACKGROUND Right-sided infective endocarditis is a classic complication of intravenous drug abuse. Without timely bactericidal antibiotics, the disease process can progress to septic pulmonary emboli. Rarely, a pneumothorax can occur as a result of the emboli, and progressive persistent valvular disease may require a valve replacement. Tricuspid valve replacement has a high morbidity rate even in stable patients. CASE REPORT We present a case of tricuspid valve replacement in a 39-year-old man with peripheral intravenous drug abuse who had bilateral pneumothoraces secondary to septic pulmonary emboli originating on large tricuspid valve infected vegetations...
July 14, 2018: American Journal of Case Reports
Van K Morris, Cathy Eng
Anal cancer is a rare malignancy for which cisplatin with 5-fluorouracil is the recommended treatment for patients with metastatic disease. Because most cases of anal cancer are linked to prior infection with oncogenic strands of the human papillomavirus, immunotherapeutic approaches have been of great interest in the development of new treatments for this virally driven tumor. This article reviews the early successes of anti-PD-1 therapies and adoptive T-cell therapies for metastatic anal cancer as a potential foundation for novel combination immunotherapy trials in the future...
July 2018: Journal of the National Comprehensive Cancer Network: JNCCN
Darren M Hutt, Salvatore Loguercio, Daniela Martino Roth, Andrew I Su, William E Balch
Inherited and somatic rare diseases result from > 200,000 genetic variants leading to loss- or gain-of-toxic function, often caused by protein misfolding. Many of these misfolded variants fail to properly interact with other proteins. Understanding the link between factors mediating the transcription, translation, and protein folding of these disease-associated variants remains a major challenge in cell biology. Herein, we utilized the cystic fibrosis transmembrane conductance regulator (CFTR) protein as a model and performed a proteomics-based high-throughput screen (HTS) to identify pathways and components affecting the folding and function of the most common cystic fibrosis-associated mutation, the F508del variant of CFTR...
July 13, 2018: Journal of Biological Chemistry
Suresh C Bokoliya, Veeramani Preethish Kumar, Saraswati Nashi, Kiran Polavarapu, Atchayaram Nalini, Shripad A Patil
BACKGROUND: Myasthenia gravis is B-cell mediated autoimmune disease and is associated with antibodies against the acetylcholine receptor (AChR), muscle-specific kinase (MuSK) and lipoprotein-related protein 4 (LRP4) in the postsynaptic membrane at the neuromuscular junction. There are few studies on the concurrent presence of two positive antibodies in the sera of patients with myasthenia gravis. CASE DESCRIPTION: A 32-year male admitted to the hospital with progressive neuromuscular weakness...
July 10, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
A-S Bertrand, M Fondain, P Rullier, C Fontaine, B Guillot
INTRODUCTION: Haemophagocytic syndrome (HS) is a rare disease with a severe prognosis that is defined by clinical, laboratory and histopathological criteria. Infections represent the classical cause of HS. HS secondary to Mediterranean spotted fever (MSF) is rare with only a few cases being reported in the literature. OBSERVATIONS: We report two cases of HS secondary to MSF in 2 men aged 77 and 63 years presenting a febrile maculo-purpuric eruption with inoculation ulcer associated with laboratory abnormalities (cytopenia, elevated ferritin, hypertriglyceridaemia)...
July 10, 2018: Annales de Dermatologie et de Vénéréologie
Saleh Albanyan, Rachel H Giles, Enric Mocholi Gimeno, Josh Silver, Jillian Murphy, Hanna Faghfoury, Chantal F Morel, Jerry Machado, Raymond H Kim
Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome in which carriers are at an increased risk of developing a variety of tumors in multiple organ systems. A clinical diagnosis of VHL is determined by the presence of specific clinical manifestations while a molecular genetic diagnosis results from a pathogenic variant in the VHL gene. The majority of mutations occur in VHL coding exons and DNA analysis of these regions has a reported sensitivity of nearly 100%. However, rare variants in the VHL gene promoter may be detected in some cases of suspected VHL disease...
July 10, 2018: European Journal of Medical Genetics
Lior Greenbaum, Yinon Gilboa, Annick Raas-Rothschild, Ortal Barel, Nitzan Kol, Haike Reznik Wolf, Ben Pode-Shakked, Yael Finezilber, Baruch Messing, Michal Berkenstadt
Diaphanospondylodysostosis (DSD) is a rare autosomal recessive skeletal disorder, characterized mainly by ossification defects in vertebrae, thorax malformations, renal cystic dysplasia and usually death in the perinatal period. DSD is caused by mutations in the BMPER (Bone Morphogenetic Protein-Binding Endothelial Cell Precursor-Derived Regulator) gene. We describe the prenatal findings of a non-consanguineous Jewish couple (shared Balkan origin), with three affected fetuses that presented with malformations in the spine and chest, reduced ossification of the skull and spine, horseshoe kidney and increased nuchal translucency...
July 10, 2018: European Journal of Medical Genetics
V Lerma, M Macías, R Toro, A Moscoso, Y Alonso, O Hernández, F J de Abajo
OBJECTIVE: To describe how nursing care is delivered to patients with epidermal necrolysis in burn units/specialized units in Spain and a selection of countries. METHOD: Descriptive cross-sectional study. Data were collected through a structured questionnaire which was sent to nurse managers in all burn units in Spain and a selection of countries. Descriptive statistics was used to summarize the results. RESULTS: All BU/SUs in Spain (n=12) and seven BU/SUs from a selection of countries completed the questionnaire...
July 10, 2018: Burns: Journal of the International Society for Burn Injuries
Dario Saracino, Fabienne Clot, Agnès Camuzat, Vincent Anquetil, Didier Hannequin, Lucie Guyant-Maréchal, Mira Didic, Léna Guillot-Noël, Daisy Rinaldi, Morwena Latouche, Sylvie Forlani, Yassaman Ghassab, Cinzia Coppola, Giuseppe Di Iorio, Isabelle David, Eric Le Guern, Alexis Brice, Isabelle Le Ber
Valosin-containing protein (VCP) mutations are rare causes of autosomal dominant frontotemporal dementias associated with Paget's disease of bone, inclusion body myopathy, and amyotrophic lateral sclerosis. We analyzed the VCP gene in a cohort of 199 patients with frontotemporal dementia and identified 7 heterozygous mutations in unrelated families, including 3 novel mutations segregating with dementia. This expands the VCP mutation spectrum and suggests that although VCP mutations are rare (3.5% in this study), the gene should be analyzed even in absence of the full syndromic complex...
June 30, 2018: Neurobiology of Aging
Antonette A Ajayi, Stephanie V Commins, David E Clarke
INTRODUCTION: Angiosarcomas are rare, malignant vascular tumors that affect endothelial cells of blood vessels. Angiosarcomas most commonly occur on the scalp or face of elderly individuals and are highly aggressive, with a 5-year survival rate below 15%. Cutaneous angiosarcomas often metastasize to the lung, where they can present with cystic lesions, solid lesions, pneumothorax, and/or hemothorax. CASE PRESENTATION: We report the case of an 83-year-old woman who presented with a scalp lesion, which was initially thought to be caused by scalp trauma but was later found to be an angiosarcoma...
July 5, 2018: Permanente Journal
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