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Intractable & Rare Diseases Research

Jiangjiang He, Qi Kang, Jiahao Hu, Peipei Song, Chunlin Jin
Over the past few years, the Chinese Government has paid greater attention to rare diseases and it has incorporated rare diseases in national health strategy and planning. On May 22, 2018, the Chinese Government officially released its first list of rare diseases, which included 121 rare diseases. The list was published to facilitate greater societal awareness of rare diseases, to improve the ability of front-line medical staff to treat rare diseases, to introduce incentives for research and development of orphan drugs, and to increase the availability of medicines for rare diseases...
May 2018: Intractable & Rare Diseases Research
Paolo Chieffi
A critical step for maintenance of genetic stability is chromosome segregation, which requires a high coordination of cellular processes. Loss of mitotic regulation is a possible cause of aneuploidy in human epithelial malignancy and it is thought to create an abnormal nuclear morphology in cancer cells. Serine/threonine protein kinase Aurora B gene plays a regulatory role from G2 to cytokinesis, encompassing key cell cycle events such as centrosome duplication, chromosome bi-orientation, and segregation. The overexpression of Aurora B has been observed in several tumour types, and has been linked with a poor prognosis for cancer patients...
May 2018: Intractable & Rare Diseases Research
Soichiro Sawamura, Takamitsu Makino, Takamitsu Johno, Junji Yamashita, Daisuke Niimori, Satoshi Fukushima, Hironobu Ihn
Although tumor necrosis factor (TNF)-α inhibitors are effective in patients with rheumatoid arthritis (RA), an increased risk of infections often becomes a serious problem. It is well known that TNF-α inhibitors increase the risk of tuberculosis, but extrapulmonary tuberculosis often induced by them is difficult to diagnose using routine imaging examinations. We described a case of delayed diagnosis of a tuberculous lymphadenitis in a patient with RA treated with TNF-α inhibitor because of the complications of severe bacterial sepsis...
May 2018: Intractable & Rare Diseases Research
Jonathan Gapp, Muhammad Fazeel Anwar, Jai Parekh, Timothy Griffin
A 61-year-old male was admitted from the outpatient setting for treatment of severe hyperglycemia. Five months earlier, his hemoglobin A1c had been 5 mmol/mol. At presentation, hemoglobin A1c was 11.3 mmol/mol and he required insulin therapy at discharge. Later magnetic resonance imaging (MRI) identified bilateral renal masses, previously seen on ultrasound during workup for chronic kidney disease, as being suspicious for renal cell carcinoma (RCC). He underwent partial nephrectomy and cryoablation with pathology showing papillary type RCC...
May 2018: Intractable & Rare Diseases Research
Sonu Agrawal, Vishwanath Singh Yadav, Anurag Srivastava, Arti Kapil, Benu Dhawan
Salmonella paratyphi A causes paratyphoid fever which is characterized by acute onset of fever, abdominal pain, diarrhoea, nausea and vomiting. Localized disease can occur following both overt and silent bacteremia followed by seeding of bacteria at distant sites. Salmonella species though associated with abscess formation in various organs,are rarely associated with breast abscess. We report 2 cases of breast abscess due to Salmonella enterica serotype paratyphi A. Appropriate sampling, surgery supplemented by a comprehensive microbiological work up aided in pathogen identification and appropriate antibiotic administration for a successful outcome of these patients...
May 2018: Intractable & Rare Diseases Research
Nitesh Kumar Bauddha, Ranveer Singh Jadon, Saikat Mondal, N K Vikram, Rita Sood
Histoplasmosis is a systemic fungal infection caused by Histoplasma capsulatum which occurs endemically in some parts of the world like North and Central America particularly in Mississippi and Ohio River valleys, but is uncommon in India. Progressive disseminated form of histoplasmosis (PDH) usually occurs in the immune-compromised hosts especially in HIV positive population. In PDH any organ can be involved like lung, liver, spleen, brain, adrenals etc . Involvement of oral cavity and buccal mucosa in PDH is common but pharyngeal involvement is rare...
May 2018: Intractable & Rare Diseases Research
Josef Finsterer, Claudia Stöllberger, Birgit Freudenthaler, Desiree De Simoni, Romana Höftberger, Klaus Wagner
Female carriers of mutations in the dystrophin gene (DMD-carriers) may manifest clinically in the skeletal muscle, the heart, or both. Cardiac involvement may manifest before, after, or together with the muscle manifestations. A 46y female developed slowly progressive weakness of the lower and upper limbs with left-sided predominance since age 26y. Muscle enzymes were repeatedly elevated and muscle biopsy showed absence of dystrophin. MLPA analysis revealed a deletion of exons 12-29. After starting steroids at age 39y, she developed palpitations and exertional dyspnoea...
May 2018: Intractable & Rare Diseases Research
Di Zhou, Zhiwei Quan, Jiandong Wang
Primary and secondary intrahepatic malignant mesothelioma (PIHMM & SIHMM) caused by Peritoneal mesothelioma (PM) are extremely rare tumors and their clinicopathological characteristics remain unclear. The current study presented a case of a 63-year-old female with PIHMM and a literature review of Chinese case reports of SIHMM and PIHMM was performed. The patient received curative left hemihepatectomy because of a 5.5 × 5.0 × 4.0 cm mass occupying the II, III and the lateral portion of the IV segments and meanwhile tightly infiltrating the diaphragm (yellow arrow) was also observed...
May 2018: Intractable & Rare Diseases Research
Haowen Tang, Zhanbo Wang, Wenping Lv, Xuan Meng
The aim of this study was to examine the expression and clinicopathological role of caudal homeobox 2 (CDX2) in intrahepatic cholangiocarcinoma (ICC). CDX2 expression was determined immunohistochemically in 93 patients with ICC. The association between CDX2 expression and clinicopathological features of ICC was also examined in patients with ICC. Immunohistochemical staining for CDX2 was noted in 27 patients (29.03%); patients with CDX2-positive tumors had significant survival advantages over those with CDX2- negative tumors (median survival was 40 months for patients with CDX2-positive tumors and 13 months for patients with CDX2-negative tumors; the hazard ratio was 0...
May 2018: Intractable & Rare Diseases Research
Nasreen Shaikh, Muhammad Sardar, Aasems Jacob, Sayee Sundar Alagusundaramoorthy, Margaret Eng, John Checton, Ajay Shah
Takotsubo cardiomyopathy (TTC) is a transient systolic dysfunction of the left ventricle which is usually seen in elderly women, often following a physical or emotional stressful event. Little is known about the prognostic factors affecting the recovery of systolic function. Thirty-six patients diagnosed with TTC from January 2006 to January 2017 at our hospital were included. Median time to recovery of ejection fraction (EF) was calculated to be 25 days. Early recovery of ejection fraction was defined as less than or equal to 25 days (group 1) and late recovery was defined as more than 25 days (group 2)...
May 2018: Intractable & Rare Diseases Research
Kaixuan Xing, Yazhou Cui, Jing Luan, Xiaoyan Zhou, Liang Shi, Jinxiang Han
Trisomy 18 (18T) is the second most common autosomal trisomy syndrome in humans, but the detailed mechanism of its pathology remains unclear due to the lack of appropriate models of this disease. To resolve this problem, the current study reprogrammed human 18T amniotic fluid cells (AFCs) into an induced pluripotent stem cell (iPSC) line by introducing integration-free episomal vectors carrying pCXLE-hOCT3/4-shp53-F, pCXLE-hSK, pCXLE-hUL, and pCXWB-EBNA1. The pluripotency of 18T-iPSCs was subsequently validated by alkaline phosphatase staining, detection of iPSC biomarkers using real-time PCR and flow cytometry, detection of embryoid body (EB) formation, and detection of in vivo teratoma formation...
May 2018: Intractable & Rare Diseases Research
Zijuan Qi, Yazhou Cui, Liang Shi, Jing Luan, Xiaoyan Zhou, Jinxiang Han
The aim of the study was to establish an induced pluripotent stem cell line from urine-derived cells (UiPSCs) from a patient with phenylketonuria (PKU) in order to provide a useful research tool with which to examine the pathology of this rare genetic metabolic disease. Urine-derived epithelial cells (UCs) from a 15-year-old male patient with PKU were isolated and reprogrammed with integration-free episomal vectors carrying an OCT4, SOX2, KLF4, and miR-302-367 cluster. PKU-UiPSCs were verified as correct using alkaline phosphatase staining...
May 2018: Intractable & Rare Diseases Research
Priyanka Vishwakarma, Srinivasan Muthuswamy, Sarita Agarwal
Spinocerebellar ataxia (SCA) is a heterogeneous genetic disorder with overlapping clinical phenotypes arising from the degeneration of purkinje cells and other regions of the brain. There are approximately 36 different subtypes of SCA, but SCA 1, 2, 3, 6 and 7 are most prevalent in the Indian population. Many findings suggested that cerebellar Purkinje cells region may be a uniquely vulnerable neuronal cell type, and more susceptible to a wider variety of genetic or cellular problems than other neuron types...
May 2018: Intractable & Rare Diseases Research
Xiaoyan Zhou, Yazhou Cui, Jinxiang Han
Methylmalonic acidemia (MMA) is a lethal, severe heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism with poor prognosis. Two main forms of the disease have been identified, isolated methylmalonic acidurias and combined methylmalonic aciduria and homocystinuria, which is respectively caused by different gene mutations. Here, we review the improvement of pathogenesis, diagnosis and treatment in MMA. Importantly, the reported epidemiological data of MMA patients in China and the hot mutation sites in Chinese patients are listed, which will aid in improving healthcare of Chinese patients in the future...
May 2018: Intractable & Rare Diseases Research
Wei Tang
For rare diseases, how to mimic the pathological progression is of importance for better understanding the molecular mechanism and identifying potential targets. Induced pluripotent stem cells (iPSCs) technology provides an ideal model to in vitro obtain the diseases-associated cells. In this issue of Intractable & Rare Diseases Research , two birth detect diseases iPS models on phenylketonuria and trisomy 18 were established, and have demonstrated great potential in the research on these rare diseases.
May 2018: Intractable & Rare Diseases Research
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
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
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
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
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
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