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Intractable & Rare Diseases Research

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https://www.readbyqxmd.com/read/29259864/an-up-date-on-epigenetic-and-molecular-markers-in-testicular-germ-cell-tumors
#1
Paolo Chieffi
Testicular germ cell tumor (TGCT) is the most common solid malignancy occurring in young men between 20 and 34 years of age, and its incidence has increased significantly over the last decades. Clinically several types of immunohistochemical markers are useful and sensitive. These new biomarkers are genes expressed in primordial germ cells/gonocytes and embryonic pluripotency-related cells but not in normal adult germ cells and they include OCT3/4, HMGA1 and 2, NANOG, SOX2, and LIN28. Gene expression in TGCT is regulated, at least in part, by DNA and histone modifications, and the epigenetic profile of these tumours is characterised by genome-wide demethylation...
November 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29259863/expanded-dengue-syndrome-in-secondary-dengue-infection-a-case-of-biopsy-proven-rhabdomyolysis-induced-acute-kidney-injury-with-intracranial-and-intraorbital-bleeds
#2
Ghazal Tansir, Chhavi Gupta, Shubham Mehta, Prabhat Kumar, Manish Soneja, Ashutosh Biswas
Dengue fever is endemic in the Indian subcontinent and can have myriad presentations. The term expanded dengue syndrome (EDS) is used for atypical manifestations in dengue fever. We present a rare case of EDS in a patient with secondary dengue infection who developed rhabdomyolysis induced acute kidney injury (RAKI) along with intracranial and intraorbital bleeds. Patient was successfully managed in our institute and was discharged in stable condition. To the best of our knowledge, this is the only reported case of simultaneous occurrence of these complications in a dengue patient...
November 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29259862/disseminated-mucormycosis-a-sinister-cause-of-neutropenic-fever-syndrome
#3
Ghazal Tansir, Neha Rastogi, Prashant Ramteke, Prabhat Kumar, Manish Soneja, Ashutosh Biswas, Sanchit Kumar, Pankaj Jorwal, Upendra Baitha
A 15 year old girl presented with complaints of prolonged fever and recurrent episodes of hemoptysis. Initial investigation showed pancytopenia and radiological imaging was suggestive of necrotizing pneumonia. Subsequently, mucor was isolated from bronchoalveolar lavage fluid, but even on appropriate medications her condition kept deteriorating. She had multiple bouts of hemoptysis and a repeat imaging of chest showed dissemination of mucormycosis to pulmonary vein and heart. Bone marrow biopsy identified acute lymphoblastic leukemia (ALL) as the cause of pancytopenia...
November 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29259861/inflammatory-fibroid-polyp-of-the-gastric-antrum-presenting-as-hypovolemic-shock-case-report-and-literature-review
#4
Kyle D Klingbeil, Alexandra Balaban, Raymond M Fertig, A Caresse Gamret, Yuna Gong, Carolyn Torres, Shevonne S Satahoo
Inflammatory fibroid polyps (IFP) are an extremely rare entity that arise within the submucosa of the gastrointestinal tract, and represent less than 0.1% of all gastric polyps. They are most commonly localized to the gastric antrum, small intestines and recto-sigmoid colon. IFPs are most commonly found incidentally upon endoscopic evaluation in the absence of symptoms. Presenting symptoms depend on the location of the tumor, although polyps located in the stomach most commonly present with epigastric pain and early satiety...
November 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29259860/steroid-resistant-nephrotic-syndrome-caused-by-co-inheritance-of-mutations-at-nphs1-and-adck4-genes-in-two-chinese-siblings
#5
Hongwen Zhang, Fang Wang, Xiaoyu Liu, Xuhui Zhong, Yong Yao, Huijie Xiao
Hereditary nephrotic syndrome often presents with steroid-resistance and onset within the first year of life. Mutations in genes highly expressed in podocytes have been found in two thirds of these patients, especially NPHS1 and NPHS2 among at least 29 genetic causes that have been discovered. We reported two siblings with steroid-resistant nephrotic syndrome caused by co-inheritance of mutations at NPHS1 (c.1339G>A, p.E447K) and ACDK4 (c.748G>C, p.D250H) genes. The siblings presented with steroid-resistant nephrotic syndrome and pathological lesions of focal segmental glomerulosclerosis (FSGS), while the elder sister also developed hypertension, renal failure and cardiac dysfunction...
November 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29259859/mthfr-promoter-hypermethylation-may-lead-to-congenital-heart-defects-in-down-syndrome
#6
Ambreen Asim, Sarita Agarwal, Inusha Panigrahi, Nazia Saiyed, Sonal Bakshi
Altered global methylation levels revealed LINE-1 methylation in young mothers of Down syndrome (DS) compared to controls suggesting the possibility of impaired DNA methylation causing abnormal segregation of chromosome 21. Methylene Tetrahydrofolate Reductase (MTHFR) is one of the major enzymes of the folate metabolism pathway. MTHFR gene polymorphism has been associated with maternal risk for DS. Studies have revealed that increased MTHFR promoter methylation results in the reduction of MTHFR protein activity further leading to increased risk of various diseases...
November 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29259858/in-vivo-quantification-of-amyloid-burden-in-ttr-related-cardiac-amyloidosis
#7
Alexander Marco Kollikowski, Florian Kahles, Svetlana Kintsler, Sandra Hamada, Sebastian Reith, Ruth Knüchel, Christoph Röcken, Felix Manuel Mottaghy, Nikolaus Marx, Mathias Burgmaier
Cardiac transthyretin-related (ATTR) amyloidosis is a severe cardiomyopathy for which therapeutic approaches are currently under development. Because non-invasive imaging techniques such as cardiac magnetic resonance imaging and echocardiography are non-specific, the diagnosis of ATTR amyloidosis is still based on myocardial biopsy. Thus, diagnosis of ATTR amyloidosis is difficult in patients refusing myocardial biopsy. Furthermore, myocardial biopsy does not allow 3D-mapping and quantification of myocardial ATTR amyloid...
November 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29259857/differences-of-basic-and-induced-autophagic-activity-between-k562-and-k562-adm-cells
#8
Feifei Wang, Jing Chen, Zhewen Zhang, Juan Yi, Minmin Yuan, Mingyan Wang, Na Zhang, Xuemin Qiu, Hulai Wei, Ling Wang
Patients with acute myeloid leukemia (AML) often have a poor prognosis due to drug resistance, which is regarded as a tough problem during the period of clinical therapeutics. It has been reported that autophagy, an important event in various cellular processes, plays a crucial role in mediating drug-resistance to cancer cells. Our study attempts to comparatively investigate the differences of basic and induced autophagic activity between drug-sensitive and multidrug-resistant AML cells. The level of basic autophagy in K562/ADM cells was higher than that in K562 cells, which could be characterized by more cytosolic contents-packaged autophagic vacuoles in K562/ADM cells when compared to that in K562 cells...
November 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29259856/the-expression-profile-of-ifitm-family-gene-in-rats
#9
Yanqin Lu, Qingli Zuo, Yao Zhang, Yanzhou Wang, Tianyou Li, Jinxiang Han
The interferon-inducible transmembrane proteins (IFITMs) are a family of small transmembrane proteins belonging to the interferon (IFN)-stimulated gene (ISG) superfamily and strongly induced by IFNs. In this paper, we studied the expression profile of IFITMs in 32 organ tissues. The IFITM mRNA expression profile showed that IFITM1, IFITM2 and IFITM3 were expressed in each tissue, especially, in spermatophore, spermaduct, testicle and epididymis. The expression of IFITM1, IFITM2 and IFITM3 showed a trend from high to low...
November 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29259855/estradiol-and-proinflammatory-cytokines-stimulate-isg20-expression-in-synovial-fibroblasts-of-patients-with-osteoarthritis
#10
Zhiwei Zheng, Lin Wang, Jihong Pan
Interferon stimulated gene 20-kDa (ISG20) has been implicated in the pathology of osteoarthritis (OA) and it has been separately found to be responsive to estrogen stimulation. OA disproportionately affects women, and especially older women, suggesting some role of reproductive hormones in its pathology. The current study characterized the expression of ISG20 following stimulation with estradiol (E2) and proinflammatory cytokines in OA synovial fibroblasts (OASFs). E2 and the proinflammatory cytokines interleukin-6 (IL-6), lipopolysaccharide (LPS), and tumor necrosis factor α (TNF-α) were used to stimulate OASFs in vitro...
November 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29259854/microglia-express-abi3-in-the-brains-of-alzheimer-s-disease-and-nasu-hakola-disease
#11
Jun-Ichi Satoh, Yoshihiro Kino, Motoaki Yanaizu, Youhei Tosaki, Kenji Sakai, Tsuyoshi Ishida, Yuko Saito
Nasu-Hakola disease (NHD) is a rare autosomal recessive leukoencephalopathy caused by a loss-of-function mutation of either TYROBP (DAP12) or TREM2 expressed in microglia. A rare variant of the TREM2 gene encoding p.Arg47His causes a 3-fold increase in the risk for late-onset Alzheimer's disease (LOAD). A recent study demonstrated that a rare coding variant p.Ser209Phe in the ABI family member 3 (ABI3) gene, a regulator of actin cytoskeleton organization, confers risk of developing of LOAD, although the pattern of ABI3 expression in AD and NHD brains with relevance to microglial pathology remains to be characterized...
November 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29259853/infection-after-total-knee-arthroplasty-and-its-gold-standard-surgical-treatment-spacers-used-in-two-stage-revision-arthroplasty
#12
REVIEW
Junren Lu, Jing Han, Chi Zhang, Yi Yang, Zhenjun Yao
Periprosthetic joint infection (PJI) is one of the most devastating postoperative complications of total knee arthroplasty (TKA). Treatment varies depending on the type of infection, but two-stage revision arthroplasty using an antibiotic spacer is considered to be the gold standard of treatment. Several types of spacers are available at the moment, each with different benefits and indications, and these spacers may be improved in the future. The primary goals of selecting a given spacer are to locally deliver antibiotics and to preserve soft tissue...
November 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29259852/epidemiology-diagnosis-and-treatment-of-wilson-s-disease
#13
REVIEW
Jing Liu, Jing Luan, Xiaoyan Zhou, Yazhou Cui, Jinxiang Han
Wilson's disease (WD) is an autosomal recessive disease caused by a mutation of the ATP7B gene, resulting in abnormal copper metabolism. The major clinical features of WD include liver disease, neurological disorders, K-F rings, and osteoporosis. The prevalence of WD in China is higher than that in Western countries. Early diagnosis and lifelong treatment will lead to better outcomes. Drugs such as sodium dimercaptosuccinate (Na-DMPS), Zn, and Gandou Decoction can be used to treat WD. Some studies have shown that the combination of traditional Chinese medicine and Western medicine is the best approach to treating WD...
November 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29259851/fibrodysplasia-ossificans-progressiva-basic-understanding-and-experimental-models
#14
REVIEW
Zijuan Qi, Jing Luan, Xiaoyan Zhou, Yazhou Cui, Jinxiang Han
Fibrodysplasia ossificans progressive (FOP) is an extremely rare autosomal dominant disorder characterized by congenital malformations of the great toes and progressive heterotopic ossification that can induce a disabling second skeleton. Spontaneously occurring flare-ups can cause inflammatory soft tissue to swell, followed by progressive and disabling heterotopic endochondral ossification. FOP is very rare, with an estimated incidence of one case per two million individuals. There is no definitive treatment for FOP, but the longevity of patients with FOP can be extended by early diagnosis and appropriate prevention of flares-up...
November 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29259850/the-paradoxical-role-of-tumor-infiltrating-immune-cells-in-lung-cancer
#15
REVIEW
Xiaodan Zheng, Yuhai Hu, Chengfang Yao
Lung cancer remains one of the leading causes of death worldwide, and lung cancers have often already metastasized when diagnosed. Numerous studies have noted the infiltration of immune cells in the lung cancer microenvironment, but these cells play a dualistic role, i.e. they suppress and/or promote tumor development and growth based on tumor progression and different cytokines in the microenvironment. These tumor-infiltrating immune cells create different microenvironments depending on their type and interaction...
November 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28944150/erratum-correction-novel-slc16a2-mutations-in-patients-with-allan-herndon-dudley-syndrome
#16
(no author information available yet)
[This corrects the article DOI: 10.5582/irdr.2016.01051.].
August 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28944149/a-case-of-leprosy-erythema-nodosum-leprosum-and-hemophagocytic-syndrome-a-continuum-of-manifestations-of-same-agent-host-interactions
#17
Prasan Kumar Panda, Ramjas Prajapati, Arvind Kumar, Manisha Jana, Pradeep Immanuel, Pranay Tanwar, Naveet Wig
A young adult man with 4-years history of lepromatous leprosy (received irregularly multidrug therapy) presented with two and half years history of symptoms suggestive of chronic erythema nodosum leprosum (ENL), initially responded to steroids and thalidomide, but later on failed. During the last 2-months, he developed fever, vomiting, and subsequently altered sensorium. On evaluation, he had hepatosplenomegaly, hyponatremia, hyperferritinemia, hemophagocytosis in bone marrow aspiration, lobular panniculitis in skin biopsy, and multiple parenchymal nodules in chest imaging...
August 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28944148/metastatic-neuroendocrine-tumor-of-the-esophagus-with-features-of-medullary-thyroid-carcinoma
#18
Raymond M Fertig, Adam Alperstein, Carlos Diaz, Kyle D Klingbeil, Sameera S Vangara, Ryosuke Misawa, Jennifer Reed, Sudeep Gaudi
A 41-year-old female presented with a pedunculated mass in the upper esophagus and bilateral lymphadenopathy. Biopsies suggested a neuroendocrine tumor, possibly carcinoid, and ensuing imaging revealed cervical lymph node metastases. The esophageal mass was removed endoscopically and discovered by pathologists to closely resemble medullary thyroid carcinoma (MTC) on immunohistochemistry staining. Following surgery, further work up demonstrated very high serum calcitonin levels, suggestive of medullary thyroid carcinoma, however the thyroid gland was normal on ultrasound...
August 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28944147/sigmoid-volvulus-in-young-patients-%C3%A4-new-twist-on-an-old-diagnosis
#19
Moaziz Sarfaraz, Syeda Rana Hasan, Shahid Lateef
According to the literature, sigmoid volvulus typically develops in patients of an older age with co-morbidities such as a psychiatric illness or a bed-bound chronic illness. Recent reports suggest that it should also be considered in young individuals without any preceding medical history. Abdominal roentgenography is a cheap and effective diagnostic modality that can avoid a delay in diagnosis. The treatment of colonic volvulus remains controversial and relies upon the procedure selected and the most appropriate therapeutic approach in terms of the clinical status of the patient, the location of the problem, the suspected existence or identification of peritonitis, bowel viability, and the expertise of the surgical team...
August 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28944146/filarial-huge-splenomegaly-dramatically-regressed-by-anti-filarial-medication-a-rare-clinical-scenario
#20
Ayan Basu, Arvind Kumar, Smita Manchanda, Naveet Wig
Lymphatic filariasis is caused by nematodes Wuchereria bancrofti, Brugia malayi and Brugia timori. Lymphatic filariasis is a spectrum of illness and can manifest as, asymptomatic microfilaraemia, acute lymphatic filariasis (lymphangitis and lymphoedema), chronic lymphoedema, elephantiasis, hydrocele, tropical pulmonary eosinophilia and some systemic manifestations which involves joint, heart, kidney, nerve, etc. We here present a case of huge splenomegaly caused by lymphatic filariasis which is a rare presentation and only few cases had been reported in the world literature so far...
August 2017: Intractable & Rare Diseases Research
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