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Intractable & Rare Diseases Research

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https://www.readbyqxmd.com/read/29552452/early-electronic-screen-exposure-and-autistic-like-symptoms
#1
Donna Hermawati, Farid Agung Rahmadi, Tanjung Ayu Sumekar, Tri Indah Winarni
Prevalence autism spectrum disorders (ASD) has been on rise, but many studies suggests over-diagnosed. Currently, children have more access to electronic media on the daily basis than those of previous generation. Some studies suggest that increases screen time is associated with melanopsin-expressing neurons and decreasing gamma-aminobutyric acid (GABA) neurotransmitter, and thus results aberrant behavior, decreased cognitive, and language development. Early exposure of electronic media in early life (< 2 years old) gives an impact on language, but it still inconclusive...
February 2018: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29552451/successful-ercp-for-management-of-traumatic-pancreatic-disruption-in-a-patient-with-situs-inversus
#2
Vishal Sharma, Sarthak Malik, Harshal S Mandavdhare, Harjeet Singh
Endoscopic retrograde cholangio-pancreatography (ERCP) is an important tool for treatment of pancreaticobiliary diseases. However, ERCP may be difficult in patients who have altered gastrointestinal anatomy due to congenital or surgical reasons. A 40-year-old male with HIV infection presented with abdominal pain following abdominal trauma. The patient was diagnosed to have traumatic pancreatic injury and underlying situs inversus. The pancreatic fluid collection was drained using radiology guided pigtail placement done for the symptoms of abdominal pain and vomiting...
February 2018: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29552450/a-case-of-htlv-1-associated-adult-t-cell-lymphoma-presenting-with-cutaneous-lesions-and-tropical-spastic-paresis
#3
Purva V Sharma, Michael Witteman, Swethika Sundaravel, Tulisa Larocca, Yuanming Zhang, Harry Goldsztajn
Adult T cell lymphoma (ATL), is a peripheral T cell neoplasm associated with infection by human T-lymphotropic virus (HTLV). This is a case of a 28-year-old lady who presented with back pain for the past month and recent onset weakness in her lower extremities bilaterally. She has a history of T-cell lymphoma secondary to HTLV-1 under remission since 2014 and systemic lupus erythematosus complicated by lupus nephritis. On physical examination patient had hyper-reflexia in both knees, ankle clonus bilaterally and spasticity in both her lower extremities...
February 2018: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29552449/a-case-of-stent-thrombosis-presenting-as-acute-myocardial-infarction-related-to-right-coronary-artery-originating-from-the-left-coronary-system
#4
Emrah Ermis, Serkan Kahraman, Hakan Ucar, Samir Allahverdiyev
Right coronary artery (RCA) originating from the left coronary system is a subtype of single coronary artery (SCA) anomaly, and the origin of RCA as a branch from the left anterior descending artery (LAD) is a very rare variant. A 55-year-old male who had a percutaneous coronary intervention (PCI) history was hospitalized due to acute coronary syndrome. Coronary angiography revealed an aberrant RCA originating from the mid-LAD as well as stent thrombosis. A successful PCI was performed and he was discharged from the hospital three days after the PCI...
February 2018: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29552448/intracardiac-thrombosis-in-beh%C3%A3-et-s-disease-successfully-treated-with-immunosuppressive-agents-a-case-of-vascular-pathergy-phenomenon
#5
Francisco Galeano-Valle, Pablo Demelo-Rodriguez, Luís Álvarez-Sala-Walther, Blanca Pinilla-Llorente, Miguel Jesús Echenagusia-Boyra, Hugo Rodriguez-Abella, Jorge Del-Toro-Cervera
Behçet's Disease (BD) is a rare multi-systemic inflammatory disorder classified as a systemic vasculitis of unknown aetiology. Vascular involvement occurs in approximately 5-51.6% cases, affecting venous and arterial vessels. Cardiac involvement is rare in BD (6%). There have been published approximately 93 cases of BD associated with intracardiac thrombosis, with different treatments and courses. We present a case of a 35-year-old spanish male that, after a percutaneous pharmacomechanical thrombectomy with venous stent placement, developed high fever and extensive venous thrombosis despite anticoagulation including intracardiac thrombosis (ICT) in the right ventricle and pulmonary embolism that leaded to the diagnosis of BD...
February 2018: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29552447/omental-fibromatosis-treated-by-laparoscopic-wide-surgical-resection
#6
David Martin, Mirza Muradbegovic, Snezana Andrejevic-Blant, David Petermann, Luca Di Mare
The current report presents a case of an omental fibromatosis discovered incidentally in a 46-year-old woman with no particular medical history and few symptoms. A surgical biopsy was performed initially, and microscopic examination revealed myofibroblastic proliferation. After additional immunohistochemical and molecular analyses, omental fibromatosis was diagnosed. Omental fibromatosis, also called intra-abdominal desmoid, is a rare and benign tumour but can be locally aggressive. Majority of cases are asymptomatic, and difficult to diagnose based on clinical presentation and radiological investigation...
February 2018: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29552446/the-ratio-of-urinary-%C3%AE-1-microglobulin-to-microalbumin-can-be-used-as-a-diagnostic-criterion-for-tubuloproteinuria
#7
Hongwen Zhang, Fang Wang, Huijie Xiao, Yong Yao
Low-molecular-weight proteinuria is one of the characteristic clinical manifestations of renal tubular and interstitial diseases. Low-molecular-weight proteinuria is defined as excessive urinary loss of α1-microglobulin, β2-microglobulin, or other low-molecular-weight plasma proteins. The current study examined the ratio of urinary α1-microglobulin to microalbumin in 24 Chinese pediatric patients with renal tubular and interstitial diseases, including 10 patients with Dent disease, 2 patients with Lowe syndrome, 6 patients with acute tubulointerstitial nephritis (ATIN), 4 patients with acute tubulointerstitial nephritis with uveitis syndrome (TINU), and 2 patients with nephronophthisis (NPHP)...
February 2018: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29552445/a-de-novo-and-novel-mutation-in-the-eya1-gene-in-a-chinese-child-with-branchio-oto-renal-syndrome
#8
Guomin Li, Qian Shen, Li Sun, Haimei Liu, Yu An, Hong Xu
Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder characterized by branchial cleft fistulae or cysts, preauricular pits, ear malformations, hearing loss, and renal anomalies. Mutations in the human homologue of the Drosophila eyes absent gene ( EYA1 ) are the most common cause of BOR syndrome. PCR and direct sequencing were used to investigate all of the exons and exon-intron boundaries in the EYA1 gene in a patient with BOR syndrome from China. The patient was a child who displayed clinical features of BOR syndrome...
February 2018: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29552444/osteogenesis-imperfecta-type-iii-ehlers-danlos-overlap-syndrome-in-a-chinese-man
#9
Yanqin Lu, Yanzhou Wang, Frank Rauch, Hu Li, Yao Zhang, Naixiang Zhai, Jian Zhang, Xiuzhi Ren, Jinxiang Han
Osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS) are rare genetic disorders that are typically inherited in an autosomal dominant manner. Few cases of OI/EDS overlap syndrome have been documented. Described here is a 30-year-old Chinese male with OI type III and EDS. Sequencing of genomic DNA revealed a heterozygous COL1A1 mutation (c.671G>A, p.Gly224Asp) that affected the N-anchor domain of the alpha 1 chain of collagen type I. Ultrastructural analysis of a skin biopsy specimen revealed thin collagen fibers with irregular alignment of collagen fibers...
February 2018: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29552443/alzheimer-s-disease-pathology-in-nasu-hakola-disease-brains
#10
Jun-Ichi Satoh, Yoshihiro Kino, Motoaki Yanaizu, Yuko Saito
Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder, characterized by progressive presenile dementia and formation of multifocal bone cysts, caused by genetic mutations of either triggering receptor expressed on myeloid cells 2 ( TREM2 ) or TYRO protein tyrosine kinase binding protein ( TYROBP ), alternatively named DNAX-activation protein 12 ( DAP12 ), both of which are expressed on microglia in the brain and form the receptor-adaptor complex that chiefly recognizes anionic lipids. TREM2 transmits the signals involved in microglial survival, proliferation, chemotaxis, and phagocytosis...
February 2018: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29552442/carotid-strain-measurement-in-patients-with-pseudoxanthoma-elasticum-hint-for-a-different-pathomechanism
#11
Sebastian Gorgonius Passon, Viviane Küllmar, Anna Katharina Blatzheim, Kristin Solveig Pausewang, Max Jonathan Stumpf, Doris Hendig, Martin Gliem, Simon Pingel, Robert Schueler, Dirk Skowasch, Najib Schahab, Georg Nickenig, Christian Alexander Schaefer
Pseudoxanthoma Elasticum (PXE), caused by autosomal-recessive mutations in the ATP-binding cassette transporter (ABCC6) gene, is known for high prevalence of atherosclerosis. A novel method investigating elastic properties of arteries in atherosclerotic patients is vascular strain analysis. We compared 44 PXE patients with peripheral artery disease (PXE+PAD group) with 50 control patients, each 25 without (control group) and with PAD (PAD group). All participants underwent an angiological examination including ankle-brachial index (ABI) and were examined with speckle-tracking based vascular strain analysis of common carotid arteries, measuring radial displacement (r...
February 2018: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29552441/complex-heterozygous-wnt1-mutation-in-severe-recessive-osteogenesis-imperfecta-of-a-chinese-patient
#12
Yanqin Lu, Yunzhang Dai, Yanzhou Wang, Naixiang Zhai, Jian Zhang, Junlong Liu, Xiaoli Yin, Tianyou Li, Xiuzhi Ren, Jinxiang Han
Osteogenesis imperfecta (OI) is a heritable connective tissue disorder with a predominately autosomal-dominant inheritance pattern. Recessive forms of OI are rare and involve many different causative genes. WNT1 mutations were found to cause either autosomal-recessive OI or dominantly inherited early-onset osteoporosis. Here we describe a 32-year-old boy with severe osteopenia and deformity of the extremities. The relative long thumb and ring finger are obvious. We identified a novel combination of complex heterozygous WNT1 mutation of c...
February 2018: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29552440/comparison-of-the-extraction-and-determination-of-serum-exosome-and-mirna-in-serum-and-the-detection-of-mir-27a-3p-in-serum-exosome-of-als-patients
#13
Qian Xu, Yuying Zhao, Xiaoyan Zhou, Jing Luan, Yazhou Cui, Jinxiang Han
Amyotrophic Lateral Sclerosis (ALS) is a muscle-bone degenerative disease, which lacks a specific index for diagnosis. In our previous studies, we found that exosomes mediated the interaction mechanism between muscle and bone at the cellular level, and myoblast exosomes can transfer miR-27a-3p to promote osteoblast mineralization. Therefore, we suppose that the expression of miR-27a-3p in the serum exosomes of ALS patients also changes. In this study, we used healthy human serum as a sample to find out the conditions and methods for extraction and detection...
February 2018: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29552439/the-natural-history-of-hereditary-motor-and-sensory-neuropathy-with-proximal-dominant-involvement-hmsn-p-in-97-japanese-patients
#14
Natsumi Fujisaki, Shugo Suwazono, Masahito Suehara, Ryo Nakachi, Miwako Kido, Yoshihisa Fujiwara, Saki Oshiro, Takashi Tokashiki, Hiroshi Takashima, Masanori Nakagawa
Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is a motor and sensory neuronopathy with autosomal dominant inheritance, adult onset, slowly progressive course, and is associated with TRK-fused gene (TFG) mutation. At advanced stages, respiratory failure and dysphagia becomes life-threatoning, and patients typically die by their 70s. Although there is currently no evidence for effective treatment, a therapy may be found by elucidation of the function of TFG. Recently its pathomechanism has been proposed to be associated with abnormalities in protein transfer from the endoplasmic reticulum...
February 2018: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29552438/circular-rnas-and-hereditary-bone-diseases
#15
REVIEW
Naixiang Zhai, Yanqin Lu, Yanzhou Wang, Xiuzhi Ren, Jinxiang Han
Circular RNA (circRNA) is a non-linear form of RNA derived from exonic, intronic, and exon-intron gene regions. circRNAs are characterized by covalent closed loops, highly stable nuclease resistance, and specific expression in species and developmental stages. CircRNA molecules have been identified as playing roles in the regulation of cell transcription, transcriptional expression after translation, interactions with microRNAs, and protein coding. A high stability and tissue- and disease-specific expression allow circRNAs to serve as potential biomarkers both for diseases and prognosis...
February 2018: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29259864/an-up-date-on-epigenetic-and-molecular-markers-in-testicular-germ-cell-tumors
#16
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
#17
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
#18
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
#19
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
#20
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
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