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Intractable & Rare Diseases Research

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https://www.readbyqxmd.com/read/28944150/erratum-correction-novel-slc16a2-mutations-in-patients-with-allan-herndon-dudley-syndrome
#1
(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
#2
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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/28944145/rare-case-of-ameloblastoma-with-pulmonary-metastases
#6
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/28944144/osteomyelitis-due-to-multiple-rare-infections-in-a-patient-with-idiopathic-cd4-lymphocytopenia
#7
Nitin Gupta, Sayantan Banerjee, Timitrov, Rohini Sharma, Shambo Guha Roy, Trupti M Shende, Mohammed Tahir Ansari, Gagandeep Singh, Neeraj Nischal, Naveet Wig, Manish Soneja
A 26-year-old male patient presented with features suggestive of osteomyelitis involving the entire left femur, hip joint and knee joint. Culture from the debrided tissue grew Acinetobacter spp. and he was treated with sensitivity based antibiotics but the symptoms did not resolve. The synovial biopsy showed multinucleated giant cells and acid fast bacilli on Ziehl Neelsen stain. Cartridge based nucleic acid amplification test (GeneXpert) was negative. The Mycobacteria growth indicator tube culture was found to be positive for Mycobacterium abscessus...
August 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28944143/laparoscopic-resection-of-ectopic-pheochromocytoma
#8
Hanhui Cai, Yuhua Zhang, Zhiming Hu
Ectopic pheochromocytoma (EP) is considered as pheochromocytoma located at extra-adrenal site. Surgical removal is believed to be the best choice for treatment of pheochromocytoma. We present a series EP resected by laparoscopic approach (LEP) and confirm its feasibility. We retrospectively reviewed clinical data of 4 patients underwent laparoscopic resection of LEP (periaortocaval EP, n = 1; retroperitoneal EP, n = 2; bladder EP, n = 1), which was collected and analyzed retrospectively in Zhejiang Provincial People's Hospital...
August 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28944142/theory-and-practice-of-laparoscopic-surgery-against-omohyoid-muscle-syndrome
#9
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/28944141/nationwide-trends-of-hospitalizations-for-cystic-fibrosis-in-the-united-states-from-2003-to-2013
#10
Abhinav Agrawal, Abhishek Agarwal, Dhruv Mehta, Rutuja R Sikachi, Doantrang Du, Janice Wang
Cystic fibrosis (CF) is a multisystem autosomal recessive genetic disorder with significant advances in early diagnosis and treatment in the last decade. It is important to provide updated information regarding these changing demographics as they also reflect a considerable improvement in survival. We analyzed the National Inpatient Sample Database (NIS) in the United States for all patients in which CF was the primary discharge diagnosis (ICD-9: 277.0-277.09) from 2003 to 2013 to evaluate the rate of hospitalizations and determine the cost and mortality associated with CF along with other epidemiological findings...
August 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28944140/mucopolysaccharidosis-type-i-ii-and-vi-and-response-to-enzyme-replacement-therapy-results-from-a-single-center-case-series-study
#11
José Francisco da Silva Franco, Regina El Dib, Arnav Agarwal, Diogo Soares, Noala Vicensoto Moreira Milhan, Lilian Maria José Albano, Chong Ae Kim
Mucopolysaccharidoses (MPS) types I, II and VI are associated with deficiencies in alpha-L-iduronidase, iduronate-2-sulfatase and N-acetylgalactosamine-4-sulfatase, respectively, and generally involve progressive and multi-systemic clinical manifestations. Enzyme replacement therapy (ERT) appears to be reasonably well tolerated. The aim of this study was to examine clinical and diagnostic findings of a series of pediatric and adult MPS patients, and assess the safety and efficacy of ERT in children and adults with MPS type I, II and VI...
August 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28944139/a-novel-cask-mutation-identified-in-siblings-exhibiting-developmental-disorders-with-without-microcephaly
#12
Toshiyuki Seto, Takashi Hamazaki, Satsuki Nishigaki, Satoshi Kudo, Haruo Shintaku, Yumiko Ondo, Keiko Shimojima, Toshiyuki Yamamoto
The calcium/calmodulin-dependent serine protein kinase gene (CASK) mutations are associated with various neurological disorders; a syndrome of intellectual disability (ID) and microcephaly with pontine and cerebellar hypoplasia (MICPCH), FG syndrome, X-linked ID with/without nystagmus, epileptic encephalopathy, and autistic spectrum disorder (ASD). Next generation sequencing was performed to elucidate genetic causes in siblings exhibiting developmental disorders, and a novel CASK mutation, c.1424G>T (p.Ser475Ile), was detected in a male patient with ID, ASD, and microcephaly...
August 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28944138/surgical-treatments-for-patients-with-recurrent-bile-duct-stones-and-oddis-sphincter-laxity
#13
REVIEW
Boxuan Zhou, Jinxiong Hu, Yuesi Zhong
Recurrent bile duct stones is the most common complication after gallstone surgery and the incidence is about 4-24%. Sphincter of Oddi laxity will lead to duodenal content flow into the bile or pancreatic duct. Patients with recurrent bile duct stones and Oddis sphincter laxity were intractable. Here we sought to present the possible and helpful surgical treatments for such patients. Prospective randomized clinical trial are needed for evaluating the outcome of surgical treatments.
August 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28944137/pulmonary-hypertension-associated-with-antiphospholipid-antibody-call-for-a-screening-tool
#14
REVIEW
Rukma Parthvi, Rutuja R Sikachi, Abhinav Agrawal, Ajay Adial, Abhinav Vulisha, Sameer Khanijo, Arunabh Talwar
Antiphospholipid (aPL) antibodies are antibodies specific for anionic phospholipids. They are immunoglobulins that attack phospholipids, phospholipid-binding proteins, or phospholipid-protein complexes and are detected in anticardiolipin and lupus anticoagulant assays. aPL antibodies are often associated with antiphospholipid syndrome (APS) which can be idiopathic or from secondary causes such as systemic lupus erythematosus (SLE), infection or drugs. They have also been shown to be associated with Pulmonary Hypertension...
August 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28944136/fetal-pleural-effusion-and-down-syndrome
#15
REVIEW
Li Cao, Yan Du, Ling Wang
Fetal pleural effusion is a rare abnormality that results from accumulation of fluid in the chest cavity. It can be classified as primary fetal hydrothorax and secondary fetal hydrothorax. The underlying causes of pleural effusion are still unknown, and the current treatment strategies are mainly based on symptoms. The prognosis of fetal pleural effusion varies significantly, ranging from spontaneous resolution to perinatal death. Recent advances in prenatal diagnostic methods and treatment such as thoracoamniotic shunting have significantly improved the survival rates for patients with or without hydrops...
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
#16
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/28580220/pancreatic-lipomatosis-in-cystic-fibrosis-rare-manifestation-of-an-uncommon-disease
#17
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
#18
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
#19
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
#20
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
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