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https://www.readbyqxmd.com/read/28107759/multiple-primary-pulmonary-meningiomas-20-year-follow-up-findings-for-a-first-reported-case-confirming-a-benign-biological-nature
#1
Yukitoshi Satoh, Yuichi Ishikawa
INTRODUCTION: Primary pulmonary meningiomas (PPMs) are very rare neoplasms, and we reported the first multiple case of PPMs in 1998. Usually, PPMs are slow-growing tumors with a good prognosis. Herein, we reported a rare multiple case of PPMs with an extremely long clinical course. PRESENTATION OF THE CASE: An 84-year-old Japanese woman with a history of multiple PPMs histologically confirmed as having a right-sided slowly growing lung nodule for 20 years. In 2010, we also reported the additional clinical course in the initial case 10 years after surgery implying a benign biological nature...
January 7, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28107758/retroperitoneal-unicentric-castleman-s-disease-a-case-report
#2
Nihed Abdessayed, Ahlem Bdioui, Houssem Ammar, Rahul Gupta, Nozha Mhamdi, Marwa Guerfela, Moncef Mokni
INTRODUCTION: Castleman's disease (CD) is an angio-follicular lymph node hyperplasia presenting as a localized or a systemic disease masquerading malignancy. The most common sites of CD are mediastinum, neck, axilla and pelvis. Unicentric CD in the peripancreatic region is very rare. PRESENTATION OF CASE: We report a case of the 34-year-old lady presenting with epigastric pain for 3 months. Abdominal imaging revealed a retroperitoneal mass arising from the pancreas suspected to be neuroendocrine tumor...
January 5, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28107443/identification-of-the-pla2g6-c-1579g-a-missense-mutation-in-papillon-dog-neuroaxonal-dystrophy-using-whole-exome-sequencing-analysis
#3
Masaya Tsuboi, Manabu Watanabe, Kazumi Nibe, Natsuko Yoshimi, Akihisa Kato, Masahiro Sakaguchi, Osamu Yamato, Miyuu Tanaka, Mitsuru Kuwamura, Kazuya Kushida, Takashi Ishikura, Tomoyuki Harada, James Kenn Chambers, Sumio Sugano, Kazuyuki Uchida, Hiroyuki Nakayama
Whole exome sequencing (WES) has become a common tool for identifying genetic causes of human inherited disorders, and it has also recently been applied to canine genome research. We conducted WES analysis of neuroaxonal dystrophy (NAD), a neurodegenerative disease that sporadically occurs worldwide in Papillon dogs. The disease is considered an autosomal recessive monogenic disease, which is histopathologically characterized by severe axonal swelling, known as "spheroids," throughout the nervous system. By sequencing all eleven DNA samples from one NAD-affected Papillon dog and her parents, two unrelated NAD-affected Papillon dogs, and six unaffected control Papillon dogs, we identified 10 candidate mutations...
2017: PloS One
https://www.readbyqxmd.com/read/28107259/paget-s-disease-of-the-vulva-a-review-of-20-years-experience
#4
Raghava Parashurama, Vivek Nama, Richard Hutson
BACKGROUND: Extramammary Paget's disease is a rare condition, and the vulva is a common site for it to occur. Despite this, there is a paucity of literature on Paget's disease of the vulva (VPD). A Cochrane meta-analysis could not draw any conclusions on interventions in VPD. Our aim was to review our practice and improve further management of VPD in our center. METHODS: We reviewed all the cases presented to Leeds Gynaecological Oncology Centre between 1988 and 2016...
January 19, 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28107209/nephropathic-cystinosis-an-update
#5
Koenraad R Veys, Mohamed A Elmonem, Fanny O Arcolino, Lambertus van den Heuvel, Elena Levtchenko
PURPOSE OF REVIEW: Over the past few decades, cystinosis, a rare lysosomal storage disorder, has evolved into a treatable metabolic disease. The increasing understanding of its pathophysiology has made cystinosis a prototype disease, delivering new insights into several fundamental biochemical and cellular processes. RECENT FINDINGS: In this review, we aim to provide an overview of the latest advances in the pathogenetic, clinical, and therapeutic aspects of cystinosis...
January 18, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28106924/incidence-clinicopathologic-features-and-fusion-transcript-landscape-of-translocation-renal-cell-carcinomas
#6
Marion Classe, Gabriel G Malouf, Xiaoping Su, Hui Yao, Erika J Thompson, Denaha J Doss, Valérie Grégoire, Julien Lenobin, Jean-Christophe Fantoni, Hélène Sudour-Bonnange, David Khayat, Sébastien Aubert, Nizar M Tannir, Xavier Leroy
AIMS: Translocation renal cell carcinoma (tRCC) is a rare subtype of kidney tumour characterized by translocations involving the transcription factor TFE3 or TFEB. tRCC was introduced into the World Health Organization classification in 2004, but much is still unknown about the natural history, clinicopathologic features, and outcomes of the disease. The aim of this study was to describe the landscape of fusion transcript in a large single-institution series of FISH confirmed tRCCs and then to confront it to morphological and clinical data...
January 20, 2017: Histopathology
https://www.readbyqxmd.com/read/28106842/adenoviral-vectors-armed-with-cell-fusion-inducing-proteins-as-anti-cancer-agents
#7
REVIEW
Joshua Del Papa, Robin J Parks
Cancer is a devastating disease that affects millions of patients every year, and causes an enormous economic burden on the health care system and emotional burden on affected families. The first line of defense against solid tumors is usually extraction of the tumor, when possible, by surgical methods. In cases where solid tumors can not be safely removed, chemotherapy is often the first line of treatment. As metastatic cancers often become vigorously resistant to treatments, the development of novel, more potent and selective anti-cancer strategies is of great importance...
January 19, 2017: Viruses
https://www.readbyqxmd.com/read/28106732/familial-lung-cancer-a-brief-history-from-the-earliest-work-to-the-most-recent-studies
#8
REVIEW
Anthony M Musolf, Claire L Simpson, Mariza de Andrade, Diptasri Mandal, Colette Gaba, Ping Yang, Yafang Li, Ming You, Elena Y Kupert, Marshall W Anderson, Ann G Schwartz, Susan M Pinney, Christopher I Amos, Joan E Bailey-Wilson
Lung cancer is the deadliest cancer in the United States, killing roughly one of four cancer patients in 2016. While it is well-established that lung cancer is caused primarily by environmental effects (particularly tobacco smoking), there is evidence for genetic susceptibility. Lung cancer has been shown to aggregate in families, and segregation analyses have hypothesized a major susceptibility locus for the disease. Genetic association studies have provided strong evidence for common risk variants of small-to-moderate effect...
January 17, 2017: Genes
https://www.readbyqxmd.com/read/28106687/superficial-parotidectomy-plane-for-debulking-surgery-in-kimura-disease
#9
Rohit Sharma
Kimura disease (KD) is a rare chronic inflammatory disorder of unknown etiology representing as solitary or multiple subcutaneous nodules predominantly in the head and neck region. Common sites of involvement are preauricular region, forehead and scalp. The soft tissue localization is often associated with regional lymphadenopathy and enlargement of the major salivary gland. The authors report a patient with KD involving the right parotid and left temporal region managed successfully at our center using a combination of debulking superficial parotidectomy and medicinal therapy...
January 18, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28106563/comprehensive-screening-for-disease-risk-variants-in-early-onset-alzheimer-s-disease-genes-in-african-americans-identifies-novel-psen-variants
#10
Aurelie N'Songo, Minerva M Carrasquillo, Xue Wang, Thuy Nguyen, Yan Asmann, Steven G Younkin, Mariet Allen, Ranjan Duara, Maria T Greig Custo, Neill Graff-Radford, Nilüfer Ertekin-Taner
We conducted a comprehensive screening of rare coding variants in an African American cohort to identify novel pathogenic mutations within the early-onset Alzheimer's disease (EOAD) genes (APP, PSEN1, and PSEN2) in this understudied population. Whole-exome sequencing of 238 African American subjects identified 6 rare missense variants within the EOAD genes, which were observed in AD cases but never among controls. These variants were analyzed in an independent cohort of 300 African American subjects in which PSEN2:NM_000447:exon5:c...
January 19, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28106562/plasma-amyloid-%C3%AE-peptides-in-type-2-diabetes-a-matched-case-control-study
#11
Kirsten E Peters, Wendy A Davis, Kevin Taddei, Ralph N Martins, Colin L Masters, Timothy M E Davis, David G Bruce
BACKGROUND: Plasma amyloid-β (Aβ) levels have rarely been investigated in type 2 diabetes despite its known associations with Alzheimer's disease. OBJECTIVE: To compare blood plasma Aβ concentrations (Aβ40 and Aβ42) in cognitively normal individuals with and without type 2 diabetes. METHODS: Plasma Aβ40 and Aβ42 were measured in 194 participants with diabetes recruited from the community-based Fremantle Diabetes Study Phase II cohort (mean age 71 years, 59% males) and 194 age-, sex-, and APOEɛ4 allele-matched, control subjects without diabetes from the Australian Imaging, Biomarkers and Lifestyle Study using a multiplex microsphere-based immunoassay...
January 19, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28106024/-a-rare-cause-of-2-1-atrioventricular-block-and-congestive-heart-failure-in-preterm-infants-hypocalcemia
#12
Emine Azak, Hatice Tatar Aksoy, Handan Ünsal, İbrahim İlker Çetin
Atrioventricular (AV) block in the neonatal period is a rare disorder. It is frequently associated with underlying structural congenital heart disease and maternal lupus. Presently described is premature baby who developed 2:1 AV block and congestive heart failure due to hypocalcemia. Dramatic clinical improvement was observed following treatment of intravenous 10% calcium gluconate. Therefore, it is suggested that serum calcium level of newborns with AV block and congestive heart failure be measured.
January 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28105934/charm-discovery-of-combinatorial-chromatin-modification-patterns-in-hepatitis-b-virus-x-transformed-mouse-liver-cancer-using-association-rule-mining
#13
Sung Hee Park, Sun-Min Lee, Young-Joon Kim, Sangsoo Kim
BACKGROUND: Various chromatin modifications, identified in large-scale epigenomic analyses, are associated with distinct phenotypes of different cells and disease phases. To improve our understanding of these variations, many computational methods have been developed to discover novel sites and cell-specific chromatin modifications. Despite the availability of existing methods, there is still room for further improvement when they are applied to resolve the histone code hypothesis. Hence, we aim to investigate the development of a computational method to provide new insights into de novo combinatorial pattern discovery of chromatin modifications to characterize epigenetic variations in distinct phenotypes of different cells...
December 13, 2016: BMC Bioinformatics
https://www.readbyqxmd.com/read/28105873/loco-regional-morbidity-after-breast-conservation-and-axillary-lymph-node-dissection-for-early-breast-cancer-with-or-without-regional-nodes-radiotherapy-perspectives-in-modern-breast-cancer-treatment-the-skagen-trial-1-is-active
#14
Hanne Melgaard Nielsen, Rasmus Blechingberg Friis, Søren Linnet, Birgitte Vrou Offersen
BACKGROUND: Axillary lymph node dissection (ALND) and adjuvant radiotherapy (RT) in early breast cancer are associated with a risk of morbidity, including lymphedema and impaired shoulder mobility. The aim of this study was to evaluate loco-regional morbidity after breast conserving surgery (BCS), ALND, taxane-based chemotherapy and whole breast irradiation (WBI) with or without regional nodes RT. MATERIAL AND METHODS: Eligible patients had BCS and ALND from 2007 to 2012 followed by adjuvant taxane-based chemotherapy and if indicated, trastuzumab and endocrine treatment...
January 20, 2017: Acta Oncologica
https://www.readbyqxmd.com/read/28105630/histopathological-features-of-endometritis-eosinophilica-in-mares
#15
Anna Lena Grimm, Heinz-Adolf Schoon, Sandra Schöniger
Equine endometritis eosinophilica (EE) is rarely described and its diagnostic criteria are not defined. The aim of this study was to characterize histological features of EE. A data base (1995-2013) was searched for biopsies with increased eosinophils. This study included all biopsies with this diagnosis and representative biopsies without this record. The definition of equine EE was based on criteria for EE in women and the results of the determination of physiological numbers of eosinophils within the equine endometrium...
January 20, 2017: Histology and Histopathology
https://www.readbyqxmd.com/read/28105556/chikungunya-infection-presenting-as-mild-encephalitis-with-a-reversible-lesion-in-the-splenium-a-case-report
#16
Kadam Nagpal, Puneet Agarwal, Amit Kumar, Rajashekhar Reddi
Chikungunya fever is an Aedes mosquito-transmitted infection caused by chikungunya virus, an RNA virus in the family Togaviridae. The disease is characteristically manifested as fever, arthralgia, and/or rash. Various neurological manifestations like meningoencephalitis, myelitis, and myeloneuropathy have been mentioned in various reports. We present a rare case of chikungunya fever presenting with mild encephalitis with a reversible lesion of the splenium (MERS), which showed complete clinical and radiological recovery...
January 19, 2017: Journal of Neurovirology
https://www.readbyqxmd.com/read/28105484/-intravitreal-ganciclovir-as-an-additional-therapy-option-in-acute-retinal-necrosis
#17
M Bischoff-Jung, A Viestenz, M Fiorentzis, L Daas, B Seitz, G Pappas, A Viestenz
Acute retinal necrosis (ARN) is a rare viral inflammatory disease, characterized by uveitis, retinal vasculitis, and necrosis in the late stages. Therapeutic management is based on the clinical findings. The positive outcome in our patient (VA 0.6) indicates that, beside the management of retinal detachment and lens opacification, additional intravitreal injections of 2 mg ganciclovir may achieve better results than systemic/topical antiviral application alone.
January 19, 2017: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/28105368/clinical-and-immunologic-correlates-of-response-to-pd-1-blockade-in-a-patient-with-metastatic-renal-medullary-carcinoma
#18
Kathryn E Beckermann, Pradeep C Jolly, Ju Y Kim, Jennifer Bordeaux, Igor Puzanov, W Kimryn Rathmell, Douglas B Johnson
BACKGROUND: Renal medullary carcinoma (RMC) is a rare kidney tumor that occurs in adolescent and young adults, typically in association with sickle cell trait. RMC exhibits rapid disease progression, frequent metastases at diagnosis, and dismal clinical outcomes. Currently available therapies, including cisplatin-based combination chemotherapy, multi-tyrosine kinase, and mTOR inhibitor strategies demonstrate either transient responses or minimal activity. Therefore, further molecular characterization and additional treatment strategies are urgently needed in this aggressive disease...
2017: Journal for Immunotherapy of Cancer
https://www.readbyqxmd.com/read/28105366/ovarian-steroid-cell-tumor-not-otherwise-specified-a-case-report-and-literature-review
#19
Lili Qian, Zhen Shen, Xuefen Zhang, Dabao Wu, Ying Zhou
Steroid cell tumors (SCT), not otherwise specified (NOS) are particularly rare ovarian sex cord-stromal tumors, which comprise <0.1% of all ovarian tumors. These tumors are uncommon in patients' prior to puberty without any typical syndromes involving hirsutism, virilization and hypertension. We here in present the case of a 5-year-old female patient who presented with sudden abdominal pain, repeated vomiting and a pelvic mass. Our patient underwent urgent exploratory laparotomy and right salpingo-oophorectomy and the histopathological examination revealed an ovarian SCT-NOS...
December 2016: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28105364/disseminated-penicillium-marneffei-infection-recurrence-in-a-non-acquired-immune-deficiency-syndrome-patient-a-case-report
#20
Zhixue Zhang, Fangxu Tao, Yining Li, Yudong Xiao, Zhishu Zhang, Jun Liu
Penicillium marneffei is a rare deep tissue fungal infection causing an endemic in Southeast Asia. This infection causes penicilliosis disease and is more common in patients who are immunocompromised. To date, no cases of P. marneffei infection relapse following treatment have been reported. A 36-year-old patient attended our hospital as a result of intermittent fever, cough, shortness of breath and multiple soft lesions located on the face, arms, neck and trunk. The medical radiological examination of the lung revealed multiple patchy exudative shadows, thick-walled hollow inner part of the visible lesions, bilateral pleural and pericardial effusion...
December 2016: Molecular and Clinical Oncology
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