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https://www.readbyqxmd.com/read/28945055/adjuvant-treatments-for-ependymomas
#1
E Alton Sartor, Patrick Y Wen
Ependymomas are rare primary central nervous system tumors occurring in children and young adults. They can be indolent or locally aggressive depending on location, histology, and extent of resection. Treatment involves maximal surgical resection and usually focal radiation therapy, depending on the presence of residual disease and tumor grade. Chemotherapy has been studied for both adults and children but do not have an established role in adjuvant therapy. In both age groups, treatment with mainly cisplatin based regimens can be considered in the setting of residual disease after surgery or for salvage therapy when surgery or further radiation is not indicated...
September 22, 2017: Journal of Neurosurgical Sciences
https://www.readbyqxmd.com/read/28944906/peptidome-analysis-of-amniotic-fluid-from-pregnancies-with-preeclampsia
#2
Yating Qian, Lei Zhang, Can Rui, Hongjuan Ding, Pengyuan Mao, Hongjie Ruan, Ruizhe Jia
Preeclampsia (PE), a life‑threatening, complicated pregnancy‑associated disease, has recently become a research focus in obstetrics. However, the peptidome of the amniotic fluid in PE patients has rarely been investigated. The present study used peptidomic profiling to perform a comparative analysis of human amniotic fluid between normal and PE pregnancies. Centrifugal ultrafiltration and liquid chromatography‑tandem mass spectrometry (LC‑MS/MS) was combined with isotopomeric dimethyl labels to gain a deeper understanding of the role of proteins and the peptidome in the onset of PE...
September 21, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28944732/patient-centered-drug-approval-the-role-of-patient-advocacy-in-the-drug-approval-process
#3
T Joseph Mattingly, Linda Simoni-Wastila
Recent approval of eteplirsen for Duchenne muscular dystrophy (DMD), a rare disease with few treatment alternatives, has reignited the debate over the U.S. drug approval process. The evolution of legal and regulatory restrictions to the marketing and sale of pharmaceuticals has spanned more than a century, and throughout this history, patient advocacy has played a significant role. Scientific evidence from clinical trials serves as the foundation for drug approval, but the patient voice has become increasingly influential...
October 2017: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/28944580/biallelic-mutations-in-gpd1-gene-in-a-chinese-boy-mainly-presented-with-obesity-insulin-resistance-fatty-liver-and-short-stature
#4
Niu Li, Guoying Chang, Yufei Xu, Yu Ding, Guoqiang Li, Tingting Yu, Ruen Yao, Juan Li, Yiping Shen, Xiumin Wang, Jian Wang
Biallelic mutations in the GPD1 gene cause a rare autosomal recessive inherited disease known as transient infantile hypertriglyceridemia (OMIM #614480). To date, only five pathogenic variants have been reported in 15 patients from three studies. The clinical symptoms of the affected individuals present a certain degree of heterogeneity. Here, we describe a chinese adolescent patient who mainly presented with obesity, insulin resistance, fatty liver, and short stature. Targeted next-generation sequencing revealed a novel compound heterozygous variant in GPD1 gene (c...
September 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28944239/analysis-of-sequence-data-to-identify-potential-risk-variants-for-oral-clefts-in-multiplex-families
#5
Emily R Holzinger, Qing Li, Margaret M Parker, Jacqueline B Hetmanski, Mary L Marazita, Elisabeth Mangold, Kerstin U Ludwig, Margaret A Taub, Ferdouse Begum, Jeffrey C Murray, Hasan Albacha-Hejazi, Khalid Alqosayer, Giath Al-Souki, Abdullatiff Albasha Hejazi, Alan F Scott, Terri H Beaty, Joan E Bailey-Wilson
BACKGROUND: Nonsyndromic oral clefts are craniofacial malformations, which include cleft lip with or without cleft palate. The etiology for oral clefts is complex with both genetic and environmental factors contributing to risk. Previous genome-wide association (GWAS) studies have identified multiple loci with small effects; however, many causal variants remain elusive. METHODS: In this study, we address this by specifically looking for rare, potentially damaging variants in family-based data...
September 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28944173/hypertrophic-obstructive-cardiomyopathy-the-mayo-clinic-experience
#6
Kunal D Kotkar, Sameh M Said, Joseph A Dearani, Hartzell V Schaff
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a primary myocardial disease characterized by left ventricular hypertrophy in the absence of other etiologies. Clinical presentation may vary from asymptomatic to sudden cardiac death. Medical treatment is the first-line therapy for symptomatic patients. Extended left ventricular septal myectomy is the procedure of choice if medical treatment is unsuccessful or intolerable. MAYO CLINIC EXPERIENCE: More than 3,000 patients have had septal myectomy for HCM at the Mayo Clinic (MN, USA) from 1993 to 2016...
July 2017: Annals of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/28944145/rare-case-of-ameloblastoma-with-pulmonary-metastases
#7
Ivan Valkadinov, Nikolay Conev, Dian Dzhenkov, Ivan Donev
Ameloblastoma is a rare low-grade odontogenic tumor of epithelial origin. The World Health Organization (WHO) has defined malignant ameloblastoma (MA) as a histologically benign-appearing ameloblastoma that has metastasized. Treatment of the primary ameloblastoma usually consists of radical excision of the tumor and adjuvant radiotherapy. Chemotherapy should be used to treat metastases due to its indolent clinical course. Presented here is the case of a 43-year-old woman who was admitted to a hospital in 2006 with a large mass involving the neck and left mandible...
August 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28944142/theory-and-practice-of-laparoscopic-surgery-against-omohyoid-muscle-syndrome
#8
Zhipeng Sun, Yubing Zhu, Nengwei Zhang
Omohyoid muscle syndrome (OMS) is a rare disease characterized as a protruding lateral neck mass feature during swallowing. Because there is a 5 cm scar after traditionally surgery, we designed a laparoscopic surgery procedure to meet the cosmetic needs of patients. From the year 2006 to 2016, there were 3 patients diagnosed as omohyoid muscle syndrome that underwent laparoscopic surgery. Operative and postoperative follow-up data were summarized. Average surgery time was 35 ± 13 min. Average blood loss was 3 ± 1 mL...
August 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28944135/management-of-syndromic-diarrhea-tricho-hepato-enteric-syndrome-a-review-of-the-literature
#9
REVIEW
Alexandre Fabre, Patrice Bourgeois, Marie-Edith Coste, Céline Roman, Vincent Barlogis, Catherine Badens
Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare disease linked to the loss of function of either TTC37 or SKIV2L, two components of the SKI complex. It is characterized by a combination of 9 signs (intractable diarrhea, hair abnormalities, facial dysmorphism, immune abnormalities, IUGR/SGA, liver abnormalities, skin abnormalities, congenital heart defect and platelet abnormalities). We present a comprehensive review of the management of SD/THE and tested therapeutic regimens. A review of the literature was conducted in May 2017: 29 articles and 2 abstracts were included describing a total of 80 patients, of which 40 presented with mutations of TTC37, 14 of SKIV2L...
August 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28944125/extensive-pyoderma-gangrenosum-a-challenging-diagnosis-and-literature-review-of-management
#10
Faizan Yasin, Salman Assad, Mehr Zahid, Shuja A Malik
Pyoderma gangrenosum is a very rare, non-infectious leukocytic dermatosis, which is often associated with an underlying systemic disease. It is usually diagnosed based on the apparent clinical findings and by excluding other causes of ulcerative skin diseases. Treatment modality includes the use of systemic steroids and oral steroids. Immunosuppressive agents, such as cyclosporine and mycophenolate mofetil, can also be added if it fails to respond to steroids. We report a case of pyoderma gangrenosum in an 85-year-old female who presented in the inpatient facility with rapidly enlarging necrotic, ulcerative lesions with accompanying fever...
July 18, 2017: Curēus
https://www.readbyqxmd.com/read/28944109/a-case-of-renal-metastasis-of-uterine-leiomyosarcoma
#11
Petar Bajic, William S Gange, Robert H Blackwell, Arpeet S Shah, John Biemer, Maria M Picken, Alex Gorbonos
A 49-year-old woman with a distant history of uterine leiomyosarcoma underwent robotic-assisted laparoscopic partial nephrectomy for a 3.5 cm right renal mass, which was presumed to be a primary renal cell carcinoma. Surgical margins were negative, and the histologic analysis confirmed leiomyosarcoma. Uterine leiomyosarcoma is traditionally a locally aggressive disease with only rare reports of renal involvement. We report a case of a metastatic leiomyosarcoma to the kidney four years following initial treatment for uterine leiomyosarcoma...
July 14, 2017: Curēus
https://www.readbyqxmd.com/read/28944097/prevalence-and-clinical-characteristics-of-rheumatoid-arthritis-in-an-inner-city-population-with-sickle-cell-disease
#12
Isabel M McFarlane, David J Ozeri, Joshy Pathiparampil, Randolph Sanchez, Justin Levinson, Odeth Barrett-Campbell, Carla Saladini-Aponte, Beatrix Boisette, Moro Salifu
OBJECTIVES: Rheumatoid arthritis (RA) has been rarely reported in association with sickle cell disease (SCD). Our study aimed to estimate the prevalence of RA in SCD population and to describe the clinical characteristics of RA associated with SCD. METHODS: Retrospective chart review of SCD and RA patients followed at 2 large urban hospitals. Seven RA/SCD patients were identified and compared to age and sex matched cohort of SCD only and of RA only group. All patients were Black...
June 2017: Rheumatology: Current Research
https://www.readbyqxmd.com/read/28944001/recurrent-graves-hyperthyroidism-after-prolonged-radioiodine-induced-hypothyroidism
#13
REVIEW
Fariha Salman, Hooman Oktaei, Solomon Solomon, Ebenezer Nyenwe
BACKGROUND: Radioactive iodine (RAI) is the most cost effective therapy for Graves' disease (GD). Patients with GD who have become hypothyroid after therapeutic RAI, rarely develop recurrence of disease. Herein we describe a case of recurrence of thyrotoxicosis after 2 years of hypothyroidism. METHODS: We present the clinical features, laboratory findings, imaging and management of an unusual case of recurrent hyperthyroidism. RESULTS: A 48-year-old male presented to the emergency room with a 2-day history of palpitation, chest discomfort and 30 pounds of weight loss...
July 2017: Therapeutic Advances in Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28943972/small-non-coding-rna-abundance-in-adrenocortical-carcinoma-a-footprint-of-a-rare-cancer
#14
Srinivas V Koduru, Ashley N Leberfinger, Dino J Ravnic
BACKGROUND: Adrenocortical carcinoma (ACC) is a relatively rare, but aggressive type of cancer, which affects both children and adults. OBJECTIVE: Small non-coding RNAs (sncRNAs) play important roles and may serve as biomarkers for disease diagnosis, prognosis and treatment. METHODS: In our study, we sought to identify sncRNAs associated with malignant adrenal tumors. We obtained publicly available, small RNA sequencing data derived from 45 ACC and 30 benign tumors arising from the cortex of the adrenal gland, adrenocortical adenomas (ACA), and compared their sncRNA expression profiles...
2017: Journal of Genomics
https://www.readbyqxmd.com/read/28943940/leptomeningeal-metastasis-of-pulmonary-large-cell-neuroendocrine-carcinoma-a-case-report-and-review-of-the-literature
#15
Guozi Yang, Zhenyu Pan, Ning Ma, Limei Qu, Tingting Yuan, Xiaochuan Pang, Xu Yang, Lihua Dong, Shixin Liu
Pulmonary large-cell neuroendocrine carcinoma (LCNEC) is a rare and malignant form of lung cancer with a poor prognosis for patients. The common sites of metastases are the liver, adrenal glands, bone and brain. LCNEC rarely metastasizes to the small intestine, ovaries, tonsils, mandible, vulva or spine. To the best of our knowledge, there have been no reports of leptomeningeal metastasis of LCNEC to date. The present case report describes an unusual case of leptomeningeal metastasis from pulmonary LCNEC alongside a review of the literature...
October 2017: Oncology Letters
https://www.readbyqxmd.com/read/28943803/primary-hyperoxaluria-detected-by-bone-marrow-biopsy-case-report
#16
F Nachite, M Dref, A Fakhri, H Rais
BACKGROUND: Primary hyperoxaluria is a rare disease with an estimated prevalence of 1 to 3 cases per million. It is due to a hepatic enzyme deficiency responsible for an endogenous overproduction of oxalate. Oxalate crystals commonly deposit in the kidney and more rarely in bone marrow. The literature has reported, to the best of our knowledge, only two cases of hyperoxaluria diagnosed by bone marrow biopsy and our case is the only one that does not show radiological bone lesions. CASE PRESENTATION: A young 22 year old chronic hemodialysis patient with nephrocalcinosis...
2017: BMC Clinical Pathology
https://www.readbyqxmd.com/read/28943588/cardiac-calcified-amorphous-tumors-in-a-patient-with-hemodialysis-for-diabetic-nephropathy
#17
Satoshi Yoshimura, Hiroaki Kawano, Takako Minami, Akira Tsuneto, Tomoo Nakata, Seiji Koga, Satoshi Ikeda, Tomayoshi Hayashi, Koji Maemura
Calcified amorphous tumor (CAT) is a rare, non-neoplastic tumor involving calcium deposition in amorphous materials. Although its etiology is unknown, cases have frequently been reported in patients with hemodialysis for chronic kidney disease. We herein describe a case of cardiac CAT in a 64-year-old woman who had been on hemodialysis for diabetic nephropathy for 20 years, and the findings of the present patient, in association with the findings of previous case reports, suggest that end-stage renal disease seems to play an important role in the onset of CAT, especially in CAT formation at the mitral annulus, which appears to differ from CAT occurring at other sites...
September 25, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28943576/sarcoidosis-with-pancreatic-mass-endobronchial-nodules-and-miliary-opacities-in-the-lung
#18
Shun Matsuura, Yasutaka Mochizuka, Kyohei Oishi, Koichi Miyashita, Hyogo Naoi, Eisuke Mochizuki, Shinichiro Mikura, Masaru Tsukui, Naoki Koshimizu, Akihiko Ohata, Takahumi Suda
Sarcoidosis affects multiple organs and rarely has unusual manifestations. A 78-year-old woman was referred to our hospital for coughing symptoms. A chest computed tomography (CT) scan revealed bilateral diffuse miliary patterns and right pleural effusion. Bronchoscopy showed multiple nodules in the carina and the bronchus intermedius. A CT scan of her abdomen revealed hypovascular lesions involving the pancreatic head and body. A transbronchial lung biopsy, bronchial mucosal biopsy, and endoscopic ultrasound-guided fine-needle aspiration of the pancreatic mass demonstrated non-caseating granulomas...
September 25, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28943535/clostridium-paraputrificum-bacteremia-in-an-older-patient-with-no-predisposing-medical-condition
#19
Miho Fukui, Shunsuke Iwai, Ryunosuke Sakamoto, Hiroko Takahashi, Tsuneo Hayashi, Tsuneaki Kenzaka
We herein report a rare case of Clostridium paraputrificum bacteremia in an elderly (88-year-old) man without a predisposing medical condition. Although he had a history of anaerobic bacteremia approximately eight months prior to admission, no gastrointestinal disease was discovered. He was treated with intravenous ampicillin/sulbactam. This case suggests that C. paraputrificum bacteremia can result from only minor abnormalities in macroscopically normal mucosal barriers. To our knowledge, this is the first report of C...
September 25, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28943464/the-spectrum-of-familial-mediterranean-fever-gene-mefv-mutations-and-genotypes-in-iran-and-report-of-a-novel-missense-variant-r204h
#20
Nader Ebadi, Abbas Shakoori, Masoumeh Razipour, Arash Salmaninejad, Razieh Zarifian Yeganeh, Saman Mehrabi, Seyed RezaRaees Karami, Malihea Khaleghian, Hamidreza Azhideh
BACKGROUND: Familial Mediterranean Fever (FMF) is an autosomal recessive disorder, characterized by recurrent and self-limited episodes of fever, abdominal pain, synovitis and pleuritis. FMF as the most common inherited monogenic autoinflammatory disease mainly affects ethnic groups of the Mediterranean basin, Arab, Jewish, Turkish, Armenian North Africans and Arabic descent. MATERIALS AND METHODS: In the present study, we selected 390 unrelated FMF patients according to the Tel-Hashomer criteria, and analyzed all patients for 12 most common mutations of MEFV gene by reverse hybridization assay (FMF strip assay)...
September 21, 2017: European Journal of Medical Genetics
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