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Intractable & Rare Diseases Research

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https://www.readbyqxmd.com/read/28580220/pancreatic-lipomatosis-in-cystic-fibrosis-rare-manifestation-of-an-uncommon-disease
#1
Harshal S Mandavdhare, Amit Kumar, Vishal Sharma, Surinder S Rana
Cystic fibrosis is deemed to be uncommon in India. The presentation is usually in the childhood although more cases are now being recognized in adolescence and adulthood. We report a case of an adolescent male who had been treated for recurrent pulmonary infections and received anti-tubercular therapy for a possible diagnosis of sputum negative pulmonary tuberculosis and was evaluated for steatorrhea. The presence of pancreatic exocrine insufficiency along with pancreatic lipomatosis suggested the diagnosis of cystic fibrosis...
May 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28580219/defining-rare-diseases-in-china
#2
Yazhou Cui, Jinxiang Han
China has the world's largest population of people with rare diseases. However, defining rare diseases remains a challenge in China. Over the past few decades, several definitions have been proposed but they have yet to be agreed to by all stakeholders. To overcome this impasse, a list of several rare diseases has recently been created. This rare disease list might be used in place of a prevalence-based definition, especially in healthcare policy-making.
May 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28580218/cryotherapy-as-a-conservative-treatment-modality-for-gingival-enlargement-in-a-patient-with-sturge-weber-syndrome
#3
Vikender Singh Yadav, Souvik Chakraborty, Shikha Tewari, Nitesh Tewari, Tuhina Ghosh
This case report describes a case of Sturge-Weber syndrome reported for unilateral gingival enlargement and bleeding from gingiva in maxillary left region. Initial treatment in the form of scaling and root planing was done but recurrence was observed after one year of follow up. Instead of performing conventional surgery, an alternative conservative treatment was planned in the form of cryotherapy with the help of closed nitrous oxide probe. Seeing the satisfactory results obtained, cryotherapy can be suggested as an atraumatic, bloodless and effective chair side procedure for treating vascular gingival enlargement...
May 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28580217/silence-pancreatitis-in-systemic-lupus-erythematosus
#4
Ervin Alibegovic, Admir Kurtcehajic, Ismar Hasukic, Ahmed Hujdurovic, Jasmin A Fejzic, Dzenita Kurtcehajic
We present here a systemic lupus erythematosus (SLE) related biochemically silent pancreatitis which was assessed via computed tomography in a 35-year-old woman. A patient with a twelve-year history of SLE presented with exacerbation of symptoms of the basic disease, with SLE Disease Activity Index > 15. She was referred to inpatient care. Dosage of corticosteroid and azathioprine for SLE was increased; subclinically and biochemically silent pancreatitis had developed, and was not diagnosed within an appropriate time...
May 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28580216/septic-thrombophlebitis-of-the-internal-jugular-vein-a-case-of-lemierre-s-syndrome
#5
Adam Alperstein, Raymond M Fertig, Matthew Feldman, Daniel Watford, Susan Nystrom, Guesly Delva, Salman Muddassir
An 18-year-old gentleman with a history of recurrent tonsillitis presented to the emergency room complaining of worsening sore throat. He was found to have a peritonisillar abscess, and imaging revealed a non-occlusive left internal jugular vein thrombosis. Lemierre's syndrome is a rare, potentially fatal condition characterized by internal jugular vein thrombosis with septicemia following an acute oropharyngeal infection. While anticoagulation is the mainstay of treatment of deep venous thromboembolism (DVT) and pulmonary embolism (PE), the use of therapy is controversial in septic thrombophlebitis...
May 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28580215/a-novel-pgk1-mutation-associated-with-neurological-dysfunction-and-the-absence-of-episodes-of-hemolytic-anemia-or-myoglobinuria
#6
Shigeto Matsumaru, Hirokazu Oguni, Hiromi Ogura, Keiko Shimojima, Satoru Nagata, Hitoshi Kanno, Toshiyuki Yamamoto
Phosphoglycerate kinase (PGK) deficiency affects three different organs: red blood cells (RBC), the central nervous system, and muscles. Next-generation sequencing identified a hemizygous PGK1 mutation (p.V217I) in a 16-year-old Japanese male patient presenting with intellectual disability and episodes of muscle weakness of unknown etiology. Enzymatic analysis demonstrated slightly lower RBC-PGK activity and compensatory increases of other glycolysis enzymes. This is the first PGK1 mutation found through next-generation sequencing...
May 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28580214/anaplastic-myxopapillary-ependymoma-in-an-infant-case-report-and-literature-review
#7
Darshan Trivedi, Zhenggang Xiong
A 7-month-old boy presented with gastrointestinal disturbance, mild neurologic deficit of the left lower extremity and levo-scoliosis of the thoracic spine. Magnetic resonance imaging demonstrated a large intramedullary lesion involving the thoracic spine, from level T1 to T11. Histologic analysis showed a glial tumor with fibrillary processes arranged in radial pattern around mucoid fibrovascular cores with a high proliferative index (focally up to 80%) and prominent vascular endothelial hyperplasia. These findings were consistent with an anaplastic myxopapillary ependymoma...
May 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28580213/a-fatal-case-of-herpes-simplex-virus-hepatitis-in-a-pregnant-patient
#8
Maen Masadeh, Huafeng Shen, Yejin Lee, Alan Gunderson, Kyle Brown, Andrew Bellizzi, Tomohiro Tanaka
We present a middle aged pregnant woman who developed signs and symptoms of acute liver failure and was found to have herpes simplex virus hepatitis. Patient had an emergent delivery and was started on antiviral therapy, but unfortunately due to the severity of her liver failure, she passed away. The importance of reporting this case is to emphasize on the importance of considering herpes simplex infection in pregnant women who present with acute liver failure, and the importance of early administration of antiviral therapy...
May 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28580212/diagnosis-of-morquio-a-patients-in-mexico-how-far-are-we-from-prompt-diagnosis
#9
Douglas Colmenares-Bonilla, Nayeli Esquitin-Garduño
Mucopolysaccharidosis IV A, better known as Morquio-A syndrome, is a rare condition with severe skeletal and multiorgan involvement. Sometimes is not easy to differentiate from other skeletal dysplasias. Prior to definitive diagnosis, patients have been delayed or misdiagnosis due to lack of knowledge of local physicians about this disease. The aim of this study is to compare the age of onset of clinical manifestations, age of diagnosis, as seen by the parent or primary caregiver and compare this age with other population reports worldwide...
May 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28580211/dent-disease-same-clcn5-mutation-but-different-phenotypes-in-two-brothers-in-china
#10
Hongwen Zhang, Fang Wang, Huijie Xiao, Yong Yao
Dent disease is an X-linked recessive proximal tubular disorder that affects mostly male patients in childhood or early adult life, caused by mutations in CLCN5 (Dent disease 1) or OCRL (Dent disease 2) genes, respectively. It presents mainly with hypercalciuria, low-molecular-weight proteinuria, nephrocalcinosis and progressive renal failure. We report here the same CLCN5 mutation but different phenotypes in two Chinese brothers, and speculate on the possible reasons for the variability of the genotype-phenotype correlations...
May 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28580210/immunosuppressive-medication-is-not-associated-with-surgical-site-infection-after-surgery-for-intractable-ulcerative-colitis-in-children
#11
Keiichi Uchida, Yoshikazu Ohtsuka, Atsushi Yoden, Hitoshi Tajiri, Hideaki Kimura, Takashi Isihige, Hiroyuki Yamada, Katsuhiro Arai, Takeshi Tomomasa, Kosuke Ushijima, Tomoki Aomatsu, Satoru Nagata, Kohei Otake, Kohei Matsushita, Mikihiro Inoue, Takahiro Kudo, Kenji Hosoi, Kazuo Takeuchi, Toshiaki Shimizu
Pediatric ulcerative colitis (UC) sometimes progresses to an intractable condition for medical therapy. The surgical management of UC is challenging because of difficult procedures and frequent infectious complications. The aim of this study was to survey surgical procedures and infectious complications in pediatric patients with UC in Japan and to assess the relationship between preoperatively administered immunosuppressive drugs and postoperative surgical site infection (SSI). A survey of pediatric patients treated from 2000 to 2012 was sent to 683 facilities nationwide...
May 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28580209/surgical-management-of-hepatolithiasis-a-minireview
#12
REVIEW
Chuan Li, Tianfu Wen
Hepatolithiasis is highly prevalent in Asia but rare in Western countries. However, the incidence of hepatolithiasis may be increasing in Western countries due to the increased rate of immigration from areas where hepatolithiasis is prevalent. There are many non-surgical treatments for hepatolithiasis, but surgical management remains the best curative treatment for some cases of hepatolithiasis. Surgical treatments can remove biliary stones and relieve stricture of the bile ducts. This review describes the indications for and the outcomes of surgical treatment of hepatolithiasis, including liver resection and liver transplantation...
May 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28580208/heart-transplantation-in-patients-with-dystrophinopathic-cardiomyopathy-review-of-the-literature-and-personal-series
#13
REVIEW
Andrea Antonio Papa, Paola D'Ambrosio, Roberta Petillo, Alberto Palladino, Luisa Politano
Cardiomyopathy associated with dystrophinopathies [Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy (XL-dCM) and cardiomyopathy of Duchenne/Becker (DMD/BMD) carriers] is an increasing recognized manifestation of these neuromuscular disorders and notably contributes to their morbidity and mortality. Dystrophinopathic cardiomyopathy (DCM) is the result of the dystrophin protein deficiency at the myocardium level, parallel to the deficiency occurring at the skeletal muscle level...
May 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28580207/aortic-intramural-hemorrhage-a-distinct-disease-entity-with-mystery
#14
REVIEW
Yun Yu, Aihua Fei, Zengbin Wu, Hairong Wang, Shuming Pan
Aortic intramural hemorrhage (IMH) is one of the disease processes that comprise the spectrum of acute aortic syndrome (AAS) with clinical manifestations and a mortality rate similar to those of classic aortic dissection (AD). However, IMH should be considered as a distinct disease entity rather than a precursor to classic dissection because of differences in their pathology, etiology, natural history, and imaging findings. Multidetector computed tomography (CT) is recommended as the first-line diagnostic imaging modality for IMH, but transesophageal echocardiography (TEE) and magnetic resonance imaging (MRI) are also helpful...
May 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28580206/idiopathic-pulmonary-fibrosis-in-east-asian
#15
REVIEW
Changbo Sun, Yanbin Sun, Hui Shen, Chunlu Yang, Shun Xu
Idiopathic pulmonary fibrosis (IPF) is a rare lung disease with a prognosis that can be worse than that of many cancers. Recent studies have improved our understanding of IPF and new treatment options have become available. However, most studies are conducted predominantly in Western countries while few are conducted in East Asian countries. The distribution, effectiveness of treatment, and prognosis for IPF differ among Westerners and East Asians, but whether the heterogeneity of IPF in East Asians is the result of ethnic differences and geographic variability is unclear...
May 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28357189/griscelli-syndrome-subtype-2-with-hemophagocytic-lympho-histiocytosis-a-case-report-and-review-of-literature
#16
Priyanka Minocha, Richa Choudhary, Anika Agrawal, Sadasivan Sitaraman
Griscelli syndrome (GS) is a rare autosomal recessive disorder resulting in pigmentary dilution of the skin and hair with variable phenotypes depending upon subtypes. Mutations in 3 distinct genes MYO5A, RAB27A, MLPH are responsible for 3 subtypes (GS1, GS2, and GS3) of GS respectively. GS subtype 2 commonly develops hemophagocytic lymphohistiocytosis (HLH) and recurrent infections due to immunodeficiency. We hereby report a 20 month old male child presenting with silvery gray hair, hypomelanosis and features of hemophagocytosis...
February 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28357188/audiological-findings-from-an-adult-with-thin-cochlear-nerves
#17
Prashanth Prabhu, Jyothi Shivaswamy
Reported here are audiological findings from an adult with thin cochlear nerves. Magnetic resonance imaging (MRI) revealed that he had a thinner cochlear nerve in the left ear than in the right ear. He had a higher degree of hearing loss in the left ear and poor speech recognition scores for both ears. He had normal middle ear and cochlear functioning. The auditory brainstem response and acoustic reflexes were absent, indicating a retrocochlear pathology. Long latency responses (LLR) revealed normal cortical functioning...
February 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28357187/thrombocytosis-in-a-patient-with-upper-gastrointestinal-bleeding
#18
Xingshun Qi, Valerio De Stefano, Xiaodong Shao, Xiaozhong Guo
Reported here is a case of upper gastrointestinal bleeding secondary to a peptic ulcer involving an extremely high platelet count of 989 × 10(9)/L. Myeloproliferative neoplasms were ruled out on the basis of gene mutation testing and a bone marrow biopsy. After the cessation of index bleeding, the platelet count decreased markedly. Thus, reactive thrombocytosis was considered as a possibility.
February 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28357186/lesch-nyhan-syndrome-the-saga-of-metabolic-abnormalities-and-self-injurious-behavior
#19
Nitesh Tewari, Vijay Prakash Mathur, Divesh Sardana, Kalpana Bansal
Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder of purine metabolism caused by a mutation in Xq26.2-q26.3 (OMIM 308000.0004). The presence of the diagnostic triad, i.e. signs of self-injurious behavior (SIB) and results of pedigree analysis and novel molecular biology & genetic testing, confirms the diagnosis of LNS. With a level of hypoxanthine guanine phosphoribosyl-transferase 1 (HPRT1) enzyme activity < 2%, patients develop neurological, neurocognitive, and neuromotor symptoms along with SIB...
February 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28357185/microdeletion-of-chromosome-1q21-3-in-fraternal-twins-is-associated-with-mental-retardation-microcephaly-and-epilepsy
#20
Fatma Mujgan Sonmez, Eyyup Uctepe, Dilek Aktas, Mehmet Alikasifoglu
Reported here are twins, both of whom have a 1q21.3 microdeletion and who exhibit key features common to previously reported cases such as microcephaly and developmental delay. However, some clinical findings and deleted genes differed from those in previously reported cases. The karyotype was normal 46, XX for both of the twins. Array comparative genomic hybridization (CGH) identified a 2.6 Mb deletion on chromosome 1q21.3 (chr1: 153,514,121-156,171,335 bp) in case 1 and a 1.6 Mb deletion on chromosome 1q21...
February 2017: Intractable & Rare Diseases Research
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