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Intractable & Rare Diseases Research

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
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
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
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
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
Keiko Shimojima, Koichi Maruyama, Masahiro Kikuchi, Ayako Imai, Ken Inoue, Toshiyuki Yamamoto
Allan-Herndon-Dudley syndrome (AHDS) is an X-linked disorder caused by impaired thyroid hormone transporter. Patients with AHDS usually exhibit severe motor developmental delay, delayed myelination of the brain white matter, and elevated T3 levels in thyroid tests. Neurological examination of two patients with neurodevelopmental delay revealed generalized hypotonia, and not paresis, as the main neurological finding. Nystagmus and dyskinesia were not observed. Brain magnetic resonance imaging demonstrated delayed myelination in early childhood in both patients...
August 2016: Intractable & Rare Diseases Research
María J Salcedo-Arellano, Reymundo Lozano, Flora Tassone, Randi J Hagerman, Wilmar Saldarriaga
Alcohol use disorders (AUDs) have been reported in a limited number of individuals with cognitive impairment but rarely in those with fragile X syndrome (FXS). However, in Colombia, culturally, alcohol consumption is very common. Here, we report eight cases of patients with FXS who have frequent alcohol consumption in Ricaurte, Colombia. Some of these patients have also used tobacco and illegal substances, including cocaine, which use has not been previously reported in those with FXS. Alcohol and substance use dependence is associated with exacerbation of their behavioral problems, such as increased impulsivity and aggression, as well as of medical problems such as an increased frequency of seizures...
August 2016: Intractable & Rare Diseases Research
Kumiko Imahashi, Reiko Fukatsu, Yasoichi Nakajima, Megumi Nakamura, Tateo Ito, Mariko Horigome, Yuichiro Haruna, Tatsuya Noda, Yasuto Itoyama
A number of persons with an intractable disease (ID) experience work-related problems that could lead to job loss. The aim of this study was to ascertain perceptions regarding a range of work-related issues and corresponding support needs of individuals with an ID. Potential participants were people ages 15 to 64 with one of the 130 intractable chronic diseases designated in the Act to Comprehensively Support the Daily and Social Activities of Persons with Disabilities (Comprehensive Support for the Disabled Act)...
August 2016: Intractable & Rare Diseases Research
Liang Shi, Yazhou Cui, Jing Luan, Xiaoyan Zhou, Jinxiang Han
Rare diseases with a low prevalence are a key public health issue because the causes of those diseases are difficult to determine and those diseases lack a clearly established or curative treatment. Thus, investigating the molecular mechanisms that underlie the pathology of rare diseases and facilitating the development of novel therapies using disease models is crucial. Human induced pluripotent stem cells (iPSCs) are well suited to modeling rare diseases since they have the capacity for self-renewal and pluripotency...
August 2016: Intractable & Rare Diseases Research
Xianping Lu, Zhiqiang Ning, Zhibin Li, Haixiang Cao, Xinhao Wang
Peripheral T-cell lymphoma (PTCL) is a set of rare and highly heterogeneous group of mature T- and NK-cell neoplasms associated with poor outcomes and lack of standard and effective therapies. The total number of newly diagnosed cases of PTCL yearly in China is estimated about 50,000. Chidamide (CS055) is a novel and orally active benzamide class of histone deacetylase (HDAC) inhibitor that selectively inhibits activity of HDAC1, 2, 3 and 10, the enzymes that are involved and play an important role in tumor initiation and development in both tumor cells and their surrounding micro-environment...
August 2016: Intractable & Rare Diseases Research
Braghadheeswar Thyagarajan, Monisha Priyadarshini Kumar, Rutuja R Sikachi, Abhinav Agrawal
Heart failure is one of the leading causes of death in developed nations. End stage heart failure often requires cardiac transplantation for survival. The left ventricular assist device (LVAD) has been one of the biggest evolvements in heart failure management often serving as bridge to transplant or destination therapy in advanced heart failure. Like any other medical device, LVAD is associated with complications with infections being reported in many patients. Endocarditis developing secondary to the placement of LVAD is not a frequent, serious and difficult to treat condition with high morbidity and mortality...
August 2016: Intractable & Rare Diseases Research
Bo Bao, Rika Maruyama, Toshifumi Yokota
Facioscapulohumeral muscular dystrophy (FSHD) is an inherited autosomal dominant disorder characterized clinically by progressive muscle degeneration. Currently, no curative treatment for this disorder exists. FSHD patients are managed through physiotherapy to improve function and quality of life. Over the last two decades, FSHD has been better understood as a disease genetically characterized by a pathogenic contraction of a subset of macrosatellite repeats on chromosome 4. Specifically, several studies support an FSHD pathogenesis model involving the aberrant expression of the double homeobox protein 4 (DUX4) gene...
August 2016: Intractable & Rare Diseases Research
Andrew Ligsay, Randi J Hagerman
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability, and is the leading single-gene cause of autism spectrum disorders. It is due to a loss of the fragile X mental retardation protein, which leads to molecular, behavioral, and cognitive deficits in these patients. Improvements in our understanding of its pathophysiology have led to the development of numerous targeted treatments in FXS as highlighted by metabotropic glutamate receptor antagonists and gamma-Aminobutyric acid receptor modulators...
August 2016: Intractable & Rare Diseases Research
Reymundo Lozano, Atoosa Azarang, Tanaporn Wilaisakditipakorn, Randi J Hagerman
The fragile X mental retardation 1 gene, which codes for the fragile X mental retardation 1 protein, usually has 5 to 40 CGG repeats in the 5' untranslated promoter. The full mutation is the almost always the cause of fragile X syndrome (FXS). The prevalence of FXS is about 1 in 4,000 to 1 in 7,000 in the general population although the prevalence varies in different regions of the world. FXS is the most common inherited cause of intellectual disability and autism. The understanding of the neurobiology of FXS has led to many targeted treatments, but none have cured this disorder...
August 2016: Intractable & Rare Diseases Research
David S Cram, Daixing Zhou
With a population of 1.4 billion, China shares the largest burden of rare genetic diseases worldwide. Current estimates suggest that there are over ten million individuals afflicted with chromosome disease syndromes and well over one million individuals with monogenic disease. Care of patients with rare genetic diseases remains a largely unmet need due to the paucity of available and affordable treatments. Over recent years, there is increasing recognition of the need for affirmative action by government, health providers, clinicians and patients...
August 2016: Intractable & Rare Diseases Research
Paolo Chieffi
Testicular germ cell tumors (TGCTs) are the most frequent solid malignant tumors in men 20-40 years of age and the most frequent cause of death from solid tumors in this age group. TGCTs comprise two major histologic groups: seminomas and non-seminomas germ cell tumors (NSGCTs). NSGCTs can be further divided into embryonal carcinoma, Teratoma, yolk sac tumor, and choriocarcinoma. Seminomas and NSGCTs present significant differences in clinical features, therapy, and prognosis, and both show characteristics of the Primordial Germ Cells (PGCs)...
May 2016: Intractable & Rare Diseases Research
Darshan K Bajaj, Ajay K Verma, Riddhi Jaiswal, Surya Kant, Anand Patel, Mona Asnani
Tuberculosis is notorious that it affects various sites of the human body and presents in different ways. One of the uncommon or rather rare presentation of extra pulmonary tuberculosis is nasal tuberculosis. The nose apart from its physiological functions also contributes to facial aesthetics and gives a defined appearance and its deformity imparts cosmetic disfigurement and unsightly appearance. Both primary and secondary forms of nasal tuberculosis are rare but should be considered in the differential diagnosis of ulcerative or crusting lesions of the nose...
May 2016: Intractable & Rare Diseases Research
Apurva Mishra, Ramesh Kumar Pandey
A fibro-epithelial polyp is the most common epithelial benign tumor of the oral cavity. Such a polyp is of mesodermal origin and it is a pink, red, or white knob-like painless growth that is sessile or pedunculated. A fibro-epithelial polyp commonly occurs on buccal mucosa, the tongue, or the gingiva. A fibro-epithelial polyp is an inflammatory hyperplastic lesion in response to chronic irritation due to calculus, sharp tooth edges, irregular denture borders, or overhanging restorations. Such a polyp rarely occurs before the fourth decade of life and its prevalence is not sex-specific...
May 2016: Intractable & Rare Diseases Research
Sahar Ahmed Fathi Hammoudah, Lama Mohammed El-Attar
Infantile systemic hyalinosis (ISH) (OMIM 228600) is a rare fatal autosomal recessive disorder characterized by extensive deposition of hyaline material in many tissues. Consanguinity has been recorded in many cases. Herein we present two new Saudi cases with review of the literature. Our first proband was a 9 month-old male who was the first baby for parents descended from a closed consanguineous pedigree. The second proband was a 13 month-old male who was the first baby for consanguineous parents (3(rd) C)...
May 2016: Intractable & Rare Diseases Research
Yesim Coskun, Ipek Akman, Mustafa Kemal Demir, Ozlem Yapicier, Salih Somuncu
Split notochord syndrome (SNS) is a very rare congenital anomaly. This report describes a male newborn with a neuroenteric cyst in the posterior mediastinum and multiple vertebrae anomalies presenting with respiratory failure and pulmonary hypertension. This report also discusses the embryological development and the etiologic theories of SNS.
May 2016: Intractable & Rare Diseases Research
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