keyword
MENU ▼
Read by QxMD icon Read
search

rare diseases

keyword
https://www.readbyqxmd.com/read/28432682/prognostics-factors-and-survival-in-acral-lentiginous-melanoma
#1
M M Asgari, L Shen, M M Sokil, I Yeh, E Jorgenson
BACKGROUND: Acral lentiginous melanoma is a rare melanoma subtype that disproportionately afflicts people of color. Acral lentiginous melanomas have a worse prognosis than other melanomas subtypes, which has been attributed to aggressive biological behavior, more advanced stage at presentation and possible disparities in access to healthcare. OBJECTIVES: Using comprehensive patient data and long-term follow-up information in a well-characterized cohort, to examine how patient, tumor, and clinical management variables impact overall and melanoma-specific survival...
April 22, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28432678/anal-metastasis-of-rectal-cancer-adenocarcinoma-of-squamous-cells-a-case-report-and-literature-review
#2
Shun Sasaki, Masahiko Sugiyama, Yu Nakaji, Ryota Nakanishi, Yuichiro Nakashima, Hiroshi Saeki, Eiji Oki, Yoshinao Oda, Yoshihiko Maehara
Anal metastasis of colorectal cancer is very rare and is usually associated with a history of anal disease, including anal fistula, fissure, hemorrhoidectomy, and anastomotic injury. We report a case of rectal cancer with a synchronous anal metastasis consisting of adenocarcinoma of squamous cells without a history of anal disease. A 60-year-old woman had a chief complaint of melena. She had a 1.5-cm anal tumor on the perianal skin, and a Bollman type 2 rectal tumor on the Ra portion was found on colonoscopy...
December 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28432572/micropapillary-bladder-cancer-a-clinico-pathological-characterization-and-treatment-analysis
#3
Z Li, H Liao, Z Tan, D Mao, Y Wu, Y M Xiao, S K Yang, L Zhong
PURPOSE: Micropapillary bladder cancer (MPBC) is a very rare and aggressive variant of urothelial carcinoma (UC). The aim of this study was to investigate the clinico-pathological characteristics, treatment, and prognosis of MPBC to improve the understanding of this invasive disease. METHODS: We reviewed the records of 6 patients with MPBC who were evaluated and treated at our hospital between 2009 and 2015, and additionally reviewed 38 cases reported in the literature...
April 21, 2017: Clinical & Translational Oncology
https://www.readbyqxmd.com/read/28432469/renal-findings-in-patients-with-mulibrey-nanism
#4
Johanna Sivunen, Susann Karlberg, Jouko Lohi, Niklas Karlberg, Marita Lipsanen-Nyman, Hannu Jalanko
BACKGROUND: Mulibrey nanism (MUL) is a rare inherited disease caused by genetic defects affecting peroxisomal TRIM37 protein. MUL affects multiple organs, leading to growth retardation and early onset type 2 diabetes. We aimed to characterize the structure and function of kidneys and the urinary tract in a large cohort of Finnish MUL patients. METHODS: Ultrasound, magnetic resonance imaging (MRI), and autopsy findings of the kidneys and urinary tract from 101 MUL patients were retrospectively analyzed...
April 22, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28432387/yttrium-90-radioembolization-for-unresectable-combined-hepatocellular-cholangiocarcinoma
#5
Lauren S Chan, Daniel Y Sze, George A Poultsides, John D Louie, Mohammed A Abdelrazek Mohammed, David S Wang
PURPOSE: Combined hepatocellular-cholangiocarcinoma (cHCC-CC) is a rare mixed cell type primary liver cancer with limited data to guide management. Transarterial radioembolization with yttrium-90 microspheres (RE) is an emerging treatment option for both hepatocellular carcinoma and intrahepatic cholangiocarcinoma. This study explored the safety and efficacy of RE for unresectable cHCC-CC. METHODS: Patients with histopathologically confirmed cHCC-CC treated with RE were retrospectively evaluated...
April 21, 2017: Cardiovascular and Interventional Radiology
https://www.readbyqxmd.com/read/28432171/ascites-in-a-patient-with-episodic-angio-oedema-and-eosinophilia-thinking-outside-the-box
#6
Eirini I Rigopoulou, Maria Ioannou, Georgia Papadamou, Georgios N Dalekos
Episodic angio-oedema with eosinophilia (EAE) or Gleich's syndrome is a rare condition characterised by recurrent episodes of oedema and eosinophilia, accompanied by urticaria, fever and weight gain. The presence of ascites has not been reported so far. We report a 21-year-old Caucasian woman who presented with marked ocular oedema and ascites. Laboratory evaluation revealed marked eosinophilia. During the last 3 months, three episodes of facial and neck oedema were reported, which resolved spontaneously over a period of 3-5 days...
April 21, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28432169/primary-malignant-melanoma-of-the-cervix-a-rare-disease
#7
Ivo Julião, Sonia Dias Carvalho, Vanda Patricio, Ana Raimundo
Malignant melanoma (MM) arising primarily in the cervix is exceedingly rare and has a poor prognosis. We report the case of a primary MM of the cervix in a 64-year-old woman with vaginal bleeding. She presented with a cervical amelanotic lesion which on biopsy rendered the diagnosis of MM. The patient was staged as International Federation of Gynecology and Obstetrics IIB and underwent Wertheim-Meigshysterectomy followed by brachytherapy. One year later, she was diagnosed with a large pelvic relapse for which surgery was performed...
April 21, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28432156/epidemiology-of-valvular-heart-disease-in-a-swedish-nationwide-hospital-based-register-study
#8
Pontus Andell, Xinjun Li, Andreas Martinsson, Charlotte Andersson, Martin Stagmo, Bengt Zöller, Kristina Sundquist, J Gustav Smith
OBJECTIVE: Transitions in the spectrum of valvular heart diseases (VHDs) in developed countries over the 20th century have been reported from clinical case series, but large, contemporary population-based studies are lacking. METHODS: We used nationwide registers to identify all patients with a first diagnosis of VHD at Swedish hospitals between 2003 and 2010. Age-stratified and sex-stratified incidence of each VHD and adjusted comorbidity profiles were assessed...
April 21, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28431954/isolated-intracranial-fibromuscular-dysplasia-of-the-posterior-cerebral-artery
#9
Min-Ju Yeo, Ho-Yeong Jeon, Min-Ju Cha, Hye-Yeon Jang, Sang-Gil Lee, Ji Seon Kim, Sung-Hyun Lee, Sang-Soo Lee, Dong-Ick Shin
Fibromuscular dysplasia (FMD) is a nonatherosclerotic, noninflammatory arterial disease that most commonly affects the renal and internal carotid arteries, but intracranial FMD is very rare. We report a patient with FMD involving the posterior cerebral arteries (PCAs). A 24year old female was presented with a 4day history of right homonymous hemianopsia with throbbing headache in the left temporo-occipital area. The brain magnetic resonance imaging (MRI) revealed an acute ischemic stroke in the left PCA territory, while the Time of Flight (TOF) magnetic resonance angiogram (MRA) showed segmental luminal irregularities in the left proximal PCA...
April 18, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28431867/whole-exome-sequencing-identification-of-novel-candidate-genes-in-patients-with-proliferative-diabetic-retinopathy
#10
Cindy Ung, Angie V Sanchez, Lishuang Shen, Samaneh Davoudi, Tina Ahmadi, Daniel Navarro-Gomez, Ching J Chen, Heather Hancock, Alan Penman, Suzanne Hoadley, Mark Consugar, Carlos Restrepo, Vinay A Shah, Joseph F Arboleda-Velasquez, Lucia Sobrin, Xiaowu Gai, Leo A Kim
Rare or novel gene variants in patients with proliferative diabetic retinopathy may contribute to disease development. We performed whole exome sequencing (WES) on patients at the phenotypic extremes of diabetic retinal complications: 57 patients diagnosed with proliferativediabetic retinopathy (PDR) as cases and 13 patients with no diabetic retinopathy despite at least 10 years of type 2 diabetes as controls. Thirty-one out of the 57 cases and all 13 controls were from the African American Proliferative Diabetic Retinopathy Study (AA)...
April 18, 2017: Vision Research
https://www.readbyqxmd.com/read/28431841/cognitive-profile-and-disorders-affecting-higher-brain-functions-in-paediatric-patients-with-neurofibromatosis-type-1
#11
E Vaucheret Paz, A López Ballent, C Puga, M J García Basalo, F Baliarda, C Ekonen, R Ilari, G Agosta
INTRODUCTION: Neurofibromatosis type 1 (NF1) is a common neurocutaneous syndrome often associated with specific cognitive deficits that are rarely monitored during follow-up of these patients. OBJECTIVE: The purpose of our study is two-fold. First, we aimed to describe the cognitive profile of patients with NF1 and detect disorders in higher brain functions associated with the disease. Second, we identified the reasons for consultation associated with school performance in these patients...
April 18, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/28431722/rosai-dorfman-disease-of-right-atrium-mimicking-myxoma
#12
Surendra Nath Khanna, Krishna Subramony Iyer, Mathews Paul, S Radhakrishnan, Arun K Rathi
Rosai-Dorfman disease, or sinus histiocytosis with massive lymphadenopathy, is a rare multisystemic disorder that was first reported by Rosai and Dorfman in 1969. It is a distinct histioproliferative disorder due to overproduction of histiocytes, which accumulate in lymph nodes. The cardiac involvement of this disease is extremely rare, and until now, only 18 cases have been reported. We report the case of a 53-year-old woman with right atrial mass mimicking myxoma, which the histopathologic evaluation revealed to be Rosai-Dorfman disease of the right atrium...
May 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28431612/xeroderma-pigmentosum-complementation-group-f-a-rare-cause-of-cerebellar-ataxia-with-chorea
#13
G Carré, C Marelli, M Anheim, C Geny, M Renaud, H R Rezvani, M Koenig, C Guissart, C Tranchant
The complementation group F of Xeroderma pigmentosum (XP-F) is rare in the Caucasian population, and usually devoid of neurological symptoms. We report two cases, both Caucasian, who exhibited progressive cerebellar ataxia, chorea, a mild subcortical frontal cognitive impairment, and in one case severe polyneuropathy. Brain MRI demonstrated cerebellar (2/2) and cortical (1/2) atrophy. Both patients had only mild sunburn sensitivity and no skin cancer. Mini-exome sequencing approach revealed in ERCC4, two heterozygous mutations, one of which was never described (c...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28431560/a-new-generation-of-bacillus-subtilis-cell-factory-for-further-elevated-scyllo-inositol-production
#14
Kosei Tanaka, Ayane Natsume, Shu Ishikawa, Shinji Takenaka, Ken-Ichi Yoshida
BACKGROUND: A stereoisomer of inositol, scyllo-inositol (SI), has been regarded as a promising therapeutic agent for Alzheimer's disease. However, this compound is relatively rare, whereas another stereoisomer of inositol, myo-inositol (MI) is abundant in nature. Bacillus subtilis 168 has the ability to metabolize inositol stereoisomers, including MI and SI. Previously, we reported a B. subtilis cell factory with modified inositol metabolism that converts MI into SI in the culture medium...
April 21, 2017: Microbial Cell Factories
https://www.readbyqxmd.com/read/28431524/biosecurity-survey-in-relation-to-the-risk-of-hpai-outbreaks-in-backyard-poultry-holdings-in-thimphu-city-area-bhutan
#15
Tenzin Tenzin, Chador Wangdi, Purna Bdr Rai
BACKGROUND: A questionnaire survey was conducted to assess the biosecurity and other practices of backyard poultry holdings and knowledge and practices of poultry keepers following an outbreak of highly pathogenic avian influenza (H5N1) virus in poultry in Thimphu city area, Bhutan. RESULTS: The study identified 62 backyard poultry holdings in 12 settlement areas, and the owners were subsequently interviewed. The birds are kept in a low-input low-output system, fed locally available scavenging feed base, and supplemented with food scraps and some grain...
April 21, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/28431328/effects-of-quantum-dots-on-the-ros-amount-of-liver-cancer-stem-cells
#16
Kunmeng Li, Chunhui Xia, Baiqi Wang, Hetao Chen, Tong Wang, Qian He, Hailong Cao, Yu Wang
Liver cancer (LC) is a serious disease that threatens human lives. LC has a high recurrence rate and poor prognosis. LC stem cells (LCSCs) play critical roles in these processes. However, the mechanism remains unclear. Reactive oxygen species (ROS) can be used to determine cell apoptosis and proliferation. However, studies of the effects of exogenous nanomaterials on LCSC ROS changes are rarely reported. In this work, quantum dots (QDs) were prepared using a hydrothermal method, and QDs were further modified with polyethylene glycol (PEG) and bovine serum albumin (BSA) using a chemical approach...
April 12, 2017: Colloids and Surfaces. B, Biointerfaces
https://www.readbyqxmd.com/read/28431110/african-histoplasmosis-new-clinical-and-microbiological-insights
#17
C Valero, S Gago, M C Monteiro, A Alastruey-Izquierdo, M J Buitrago
African histoplasmosis is defined as the fungal infection caused by Histoplasma capsulatum var. duboisii (Hcd). Studies focused on distinguishing Hcd and H. capsulatum var. capsulatum (Hcc), which coexist in Africa, are scarce or outdated, and African strains are continuously underrepresented. In this work, 13 cases of African patients with histoplasmosis diagnosed in the Spanish Mycology Reference Laboratory have been reviewed showing that 77% had disseminated disease and AIDS as underlying disease although Hcd infection has been classically considered a rare presentation in AIDS patients...
April 20, 2017: Medical Mycology: Official Publication of the International Society for Human and Animal Mycology
https://www.readbyqxmd.com/read/28430856/a-comprehensive-analysis-of-rare-genetic-variation-in-amyotrophic-lateral-sclerosis-in-the-uk
#18
Sarah Morgan, Aleksey Shatunov, William Sproviero, Ashley R Jones, Maryam Shoai, Deborah Hughes, Ahmad Al Khleifat, Andrea Malaspina, Karen E Morrison, Pamela J Shaw, Christopher E Shaw, Katie Sidle, Richard W Orrell, Pietro Fratta, John Hardy, Alan Pittman, Ammar Al-Chalabi
Amyotrophic lateral sclerosis is a progressive neurodegenerative disease of motor neurons. About 25 genes have been verified as relevant to the disease process, with rare and common variation implicated. We used next generation sequencing and repeat sizing to comprehensively assay genetic variation in a panel of known amyotrophic lateral sclerosis genes in 1126 patient samples and 613 controls. About 10% of patients were predicted to carry a pathological expansion of the C9orf72 gene. We found an increased burden of rare variants in patients within the untranslated regions of known disease-causing genes, driven by SOD1, TARDBP, FUS, VCP, OPTN and UBQLN2...
April 18, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28430790/whole-genome-sequencing-suggests-mechanisms-for-22q11-2-deletion-associated-parkinson-s-disease
#19
Nancy J Butcher, Daniele Merico, Mehdi Zarrei, Lucas Ogura, Christian R Marshall, Eva W C Chow, Anthony E Lang, Stephen W Scherer, Anne S Bassett
OBJECTIVES: To investigate disease risk mechanisms of early-onset Parkinson's disease (PD) associated with the recurrent 22q11.2 deletion, a genetic risk factor for early-onset PD. METHODS: In a proof-of-principle study, we used whole-genome sequencing (WGS) to investigate sequence variants in nine adults with 22q11.2DS, three with neuropathologically confirmed early-onset PD and six without PD. Adopting an approach used recently to study schizophrenia in 22q11...
2017: PloS One
https://www.readbyqxmd.com/read/28430699/clinical-experience-and-diagnostic-algorithm-of-vulval-crohn-s-disease
#20
Lotte Boxhoorn, Tom J Stoof, Tim de Meij, Frank Hoentjen, Bas Oldenburg, Gerd Bouma, Mark Löwenberg, Adriaan A van Bodegraven, Nanne K H de Boer
BACKGROUND AND AIM: Vulval Crohn's disease (VCD) is a rare extraintestinal cutaneous manifestation of Crohn's disease. No consensus on the diagnostic workup and therapeutic management of this condition has been provided in the current literature. PATIENTS AND METHODS: Retrospective, multicentre descriptive case series of female patients diagnosed and treated with VCD. By chart review, data on initial symptoms, clinical courses, histologic findings and therapeutic management were collected...
April 20, 2017: European Journal of Gastroenterology & Hepatology
keyword
keyword
879
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"