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Intractable & Rare Diseases Research

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https://www.readbyqxmd.com/read/27904832/frontal-fibrosing-alopecia-treatment-options
#1
Raymond Fertig, Antonella Tosti
Frontal fibrosing alopecia (FFA) is a rare dermatologic disease that causes scarring and hair loss and is increasing in prevalence worldwide. FFA patients typically present with hair loss in the frontal scalp region and eyebrows which may be associated with sensations of itching or burning. FFA is a clinically distinct variant of lichen planopilaris (LPP) that affects predominantly postmenopausal women, although men and premenopausal women may also be affected. Early diagnosis and prompt treatment are necessary to prevent definitive scarring and permanent hair loss...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27904831/orphan-drug-development-in-china-turning-challenges-into-opportunities
#2
Xiaowei Jin, Li Chen
Of over 7,000 known rare diseases, only 5% currently have an available treatment option worldwide. Moreover, the vast majority of rare disease patients in China have no access to treatment due to limited availability and the lack of appropriate infrastructure in China's healthcare system. Despite increased interest in orphan drug development, drug companies in China with active programs on drugs to treat rare diseases are still limited. Hence, there is a huge unmet need in China, with over 10 million patients suffering from rare diseases...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27904830/a-rare-case-of-kissing-gastric-ulcers-caused-by-trauma
#3
Yan Zhang, Yafei Zhang, Shiyang Ma, Haitao Shi, Xiaolan Lu
We present a rare case of a 32-year-old female with gastric ulcers caused by pressure from trauma. The patient was diagnosed with stress-related acute gastritis by a local hospital and she was discharged 1 week later after her symptoms improved. She was given oral proton pump inhibitors (PPI). However, epigastric pain intensified, so the woman was seen at this Hospital 3 days later. Gastric endoscopy revealed kissing ulcers in the lower body of the stomach. A point worth mentioning is that the kissing gastric ulcers were caused by trauma due to impact with the steering wheel...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27904829/systemic-kikuchi-fujimoto-disease-bordering-lupus-lymphadenitis-a-fresh-look
#4
Aram Behdadnia, Seyyed Farshad Allameh, Mehrnaz Asadi Gharabaghi, Seyed Reza Najafizadeh, Ahmad Tahamoli Roudsari, Alireza Ghajar, Morsaleh Ganji, Mohsen Afarideh
A 31-year old woman with persistent fever for 6 weeks and unresponsive to antibiotic therapy came for rheumatologic investigation. After computed tomography (CT) studies of her neck, thorax and abdomen revealed bilateral cervical, axillary and retroperitoneal lymph node enlargements, histopathologic evaluation of the resected nodes showed features of histiocytic necrotizing lymphadenopathy suggestive of Kikuchi-Fujimoto's lymphadenopathy. Kikuchi-Fujimoto Disease (KFD) involving the retroperitoneal nodes is extremely unusual and even more challenging to diagnose when there are no early signs of extranodal involvement or abdominopelvic pain...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27904828/dent-s-disease-complicated-by-nephrotic-syndrome-a-case-report
#5
Guohua He, Hongwen Zhang, Shanshan Cao, Huijie Xiao, Yong Yao
Dent's disease is an X-linked recessive proximal tubular disorder that mostly affects male patients in childhood or early adult life. The condition is caused by mutations in the CLCN5 (Dent disease 1) or OCRL (Dent disease 2) genes located on chromosome Xp11.22 and Xq25, respectively. In most male patients, proteinuria is subnephrotic but may reach nephrotic levels. Here, we report the first case of Dent's disease complicated by nephrotic syndrome. Dent's disease should be considered in the differential diagnosis of nephrotic syndrome, and especially in male patients with early onset of nephrotic syndrome...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27904827/presentation-of-idiopathic-retroperitoneal-fibrosis-at-a-young-age-a-rare-case-report
#6
Priyanka Minocha, Ankur Setia
Abdominal pain is a very common symptom in all age groups but retroperitoneal fibrosis is a rare differential diagnosis suspected in young patients presenting with nonspecific abdominal pain and symptoms of obstructive uropathy. Presented here is a case of a 16-year-old boy who presented with symptoms of persistent abdominal pain and a previous history of swelling in the left leg. A computed tomography (CT) scan suggested retroperitoneal fibrosis and an exploratory laparotomy and histopathological examination were performed for definitive diagnosis...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27904826/infective-abdominal-aortitis-due-to-campylobacter-fetus-bacteremia-a-case-report-and-review-of-literature
#7
Abhinav Agrawal, Rutuja R Sikachi
Infectious aortitis (IA) is a rare but life-threatening condition, and most commonly affects the abdominal aorta or thoracic aorta. Various microorganisms have been associated with infectious thoracic aortitis, most commonly Staphylococcus, Enterococcus, Streptococcus, and Salmonella species. Campylobacter fetus (C. fetus) has been seen as a cause of infective aortitis only in a few case reports. We report a rare case of infective aortitis of the abdominal aorta caused due to C. fetus bacteremia. While C. fetus infections usually occur in patients with immunosuppression, such as malignancy, or those with diabetes mellitus, but our patient was not immunocompromised...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27904825/can-acetazolamide-be-used-to-treat-diseases-involving-increased-bone-mineral-density
#8
Juan David González-Rodríguez, María Isabel Luis-Yanes, Esther Inglés-Torres, Pedro Arango-Sancho, José Eugenio Cabrera-Sevilla, María Rosario Duque-Fernández, Salvador Gil-Sánchez, Víctor Manuel García-Nieto
Sclerosing bone dysplasias are a series of clinically and genetically heterogeneous diseases characterized by functional failure of the osteoclasts in bone resorption, leading to an excessive amount of bone mineral density (BMD) which could have serious clinical consequences. We treated three children affected with seriously high levels of BMD with acetazolamide, with the intention of inducing metabolic acidosis, thus increasing bone resorption and reducing BMD. All our patients tolerated and followed the treatment well and the clinical response was satisfactory in all cases...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27904824/metachromatic-leukodystrophy-biochemical-characterization-of-two-p-307glu%C3%A2-lys-p-318trp%C3%A2-cys-arylsulfatase-a-mutations
#9
Adem Özkan, Hatice Asuman Özkara
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by Arylsulfatase A (ASA) deficiency. The hallmark of the disease is central and peripheral neurodegeneration. More than 200 mutations have been identified in ARSA gene so far. Some of these mutations were characterized. The aim of this study is to reinforce genotype-phenotype correlation and to understand the effect of mutations on the enzyme by biochemical characterization. Two missense mutations (c.919G→A, p.307Glu→Lys and c.954G→T, p...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27904823/expression-of-gp91phox-and-p22phox-catalytic-subunits-of-nadph-oxidase-on-microglia-in-nasu-hakola-disease-brains
#10
Jun-Ichi Satoh, Yoshihiro Kino, Motoaki Yanaizu, Youhei Tosaki, Kenji Sakai, Tusyoshi Ishida, Yuko Saito
The superoxide-producing nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex of phagocytes (phox) plays a key role in production of reactive oxygen species (ROS) by microglia. The catalytic subunits of the NADPH oxidase are composed of p22phox and gp91phox. Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder caused by a loss-of-function mutation of either TYROBP (DAP12) or TREM2. Pathologically, the brains of NHD patients exhibit extensive demyelination designated leukoencephalopathy, astrogliosis, accumulation of axonal spheroids, and remarkable activation of microglia predominantly in the white matter of frontal and temporal lobes...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27904822/targeted-sequencing-approach-to-identify-genetic-mutations-in-nasu-hakola-disease
#11
Jun-Ichi Satoh, Motoaki Yanaizu, Youhei Tosaki, Kenji Sakai, Yoshihiro Kino
Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder characterized by sclerosing leukoencephalopathy and multifocal bone cysts, caused by a loss-of-function mutation of either TYROBP (DAP12) or TREM2. TREM2 and DAP12 constitute a receptor/adaptor signaling complex expressed exclusively on osteoclasts, dendritic cells, macrophages, and microglia. Premortem molecular diagnosis of NHD requires genetic analysis of both TYROBP and TREM2, in which 20 distinct NHD-causing mutations have been reported. Due to genetic heterogeneity, it is often difficult to identify the exact mutation responsible for NHD...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27904821/auditory-brainstem-response-and-late-latency-response-in-individuals-with-tinnitus-having-normal-hearing
#12
Sreeraj Konadath, Puttabasappa Manjula
Tinnitus is a commonly encountered complaint in routine audiology practice. The pathophysiology and exact generation site of tinnitus is not precisely established. Auditory brainstem response (ABR) and late latency response (LLR) findings in individuals with tinnitus show mixed results in the literature. Majority of studies have focused on individuals having tinnitus with peripheral hearing loss. The present study explores ABR and LLR characteristics among tinnitus patients with normal audiometric presentation; with no direct indication of any cochlear lesion...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27904820/the-neurobiology-of-the-prader-willi-phenotype-of-fragile-x-syndrome
#13
REVIEW
Zukhrofi Muzar, Reymundo Lozano, Alexander Kolevzon, Randi J Hagerman
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism, caused by a CGG expansion to greater than 200 repeats in the promoter region of FMR1 on the bottom of the X chromosome. A subgroup of individuals with FXS experience hyperphagia, lack of satiation after meals and severe obesity, this subgroup is referred to have the Prader-Willi phenotype of FXS. Prader-Willi syndrome is one of the most common genetic severe obesity disorders known and it is caused by the lack of the paternal 15q11-13 region...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27904819/an-overview-of-compassionate-use-programs-in-the-european-union-member-states
#14
REVIEW
Gayathri Balasubramanian, Suman Morampudi, Pankdeep Chhabra, Arun Gowda, Behsad Zomorodi
The past decade witnessed rapid development of novel drugs and therapeutic biological agents. The marketing authorization for novel therapies is often time consuming and distressing for patients. Earlier clinical trials were the only way to access new drugs under development. However, not every patient meets the enrolment criteria, and participation is difficult for patients with life-threatening, long-lasting or seriously debilitating diseases like rare diseases. Early access programs like "Compassionate Use Program (CUP)" have generated alternative channels for such patients...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27904818/the-government-s-role-in-regulating-coordinating-and-standardizing-the-response-to-alzheimer-s-disease-anticipated-international-cooperation-in-the-area-of-intractable-and-rare-diseases
#15
REVIEW
Qi Tang, Peipei Song, Lingzhong Xu
The World Health Organization (WHO) has emphasized that aging of the population is inextricably linked to many other global public health issues, such as universal health coverage, non-communicable diseases, and disability. However, Alzheimer's Disease International (ADI) estimates that 46.8 million elderly people worldwide were living with dementia in 2015. Alzheimer's disease (AD), the most common form of dementia, is one of the most common neurodegenerative diseases and is the main cause of cognitive impairment...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27672550/behavioral-phenotype-in-a-child-with-prader-willi-syndrome-and-comorbid-47-xyy
#16
Pooja Palkar, Anahid Kabasakalian, Bonnie Taylor, Ellen Doernberg, Casara Jean Ferretti, Genoveva Uzunova, Eric Hollander
We report a 12-year-old male with Prader-Willi syndrome (PWS) and 47, XYY syndrome. Genetic work up revealed 47, XYY karyotype. PWS diagnosis was made by polymerase chain reaction methylation and maternal uniparental disomy (mUPD) was determined to be the etiology. Review of distinct behavioral features, possible interplay between the two syndromes and considerations for diagnoses are presented. To our knowledge, this is the first report of behavioral features in PWS with comorbid 47, XYY.
August 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27672549/cystic-adventitial-disease-of-the-common-femoral-vein-a-case-report
#17
Jimei Yu, Chaojun Lu, Xiaohua Pan, Weihua Li
Adventitial cystic disease (ACD) of the common femoral vein is a rare vascular disorder. It becomes more difficult to recognize preoperatively especially when the femoral vein is affected. We report the case of a 62-year-old female patient who presented with a one-month history of painless swelling in her right lower extremity. She had no specific past medical history and no history of trauma, and had a full coagulopathy profile that was negative for any hypercoagulable syndrome. On examination, her lower right leg was significantly swollen with a palpable mass in her right inguinal region...
August 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27672548/hemophagocytic-lymphohistiocytosis-a-rare-cause-of-recurrent-encephalopathy
#18
Raashda Ainuddin Sulaiman, Marwan Yassin Shaheen, Hamad Al-Zaidan, Zuhair Al-Hassnan, Moeenaldeen Al-Sayed, Zuhair Rahbeeni, Nasir Ahmed Bakshi, Namik Kaya, Mazhor Aldosary, Mohammed Al-Owain
We report an unusual case of recurrent encephalopathy due to acquired hemophagocytic lymphohistiocytosis (HLH) in a patient with propionic acidemia (PA). PA is an inherited metabolic disorder in which patients often present with encephalopathy and pancytopenia during metabolic decompensation. However, these patients may rarely develop HLH with similar presentation. This case illustrates the need to distinguish HLH induced encephalopathy from the one secondary to metabolic decompensation in these patients, as early diagnosis and treatment of HLH improves prognosis...
August 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27672547/coffin-siris-syndrome-with-caf%C3%A3-au-lait-spots-obesity-and-hyperinsulinism-caused-by-a-mutation-in-the-arid1b-gene
#19
Fatma Mujgan Sonmez, Eyyup Uctepe, Mehmet Gunduz, Zeliha Gormez, Seval Erpolat, Murat Oznur, Mahmut Samil Sagiroglu, Huseyin Demirci, Esra Gunduz
Coffin-Siris syndrome (CSS) (MIM 135900) is characterized by developmental delay, severe speech impairment, distinctive facial features, hypertrichosis, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and agenesis of the corpus callosum. Recently, it was shown that mutations in the ARID1B gene are the main cause of CSS, accounting for 76% of identified mutations. Here, we report a 15 year-old female patient who was admitted to our clinic with seizures, speech problems, dysmorphic features, bilaterally big, large thumb, café-au-lait (CAL) spots, obesity and hyperinsulinism...
August 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27672546/malignant-mckittrick-wheelock-syndrome-as-a-cause-of-acute-kidney-injury-and-hypokalemia-report-of-a-case-and-review-of-literature
#20
Sarthak Malik, Bipadabhanjan Mallick, Kunaal Makkar, Vivek Kumar, Vishal Sharma, Surinder Singh Rana
Colonic polyps are usually asymptomatic, and are commonly detected during screening colonoscopy. Severe hypokalemia secondary to secretory diarrhea is a rare presentation of rectal polyps. We present a 70 years old female with hypokalemia and acute kidney injury secondary to secretory diarhea due to moderately differentiated adenocarcinoma of rectum, all of which is syndromically sometimes referred to as McKittrick and Wheelock syndrome. The case is presented because McKittrick-Wheelock syndrome is still more uncommon with malignancy...
August 2016: Intractable & Rare Diseases Research
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