Intractable & Rare Diseases Research
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Volume 4 , Issue 3
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Review
  • Barbara Marconi, Ivan Bobyr, Anna Campanati, Elisa Molinelli, Veronica ...
    Volume 4 (2015) Issue 3 Pages 113-122
    Released: August 22, 2015
    [Advance publication] Released: July 06, 2015
    JOURNALS FREE ACCESS
    Pseudoxantoma elasticum (PXE), also known as Groenblad-Strandberg syndrome, is a rare heritable disease with an estimated prevalence of 1:50,000 in the general population. PXE is considered a prototype of multisystem ectopic mineralization disorders and it is characterized by aberrant mineralization of soft connective tissue with degeneration of the elastic fibers, involving primarily the eyes, the cardiovascular system, and the skin. Cutaneous lesions consist of small, asymptomatic, yellowish papules or larger coalescent plaques, typically located on the neck and the flexural areas. PXE is caused by mutations in the ABCC6 (ATP-binding cassette subfamily C member 6) gene that encodes a transmembrane ATP binding efflux transporter, normally expressed in the liver and the kidney; however, the exact mechanism of ectopic mineralization remains largely unknown. The histological examination of cutaneous lesions, revealing accumulation of pleomorphic elastic structures in middermis, is essential for the definitive diagnosis of PXE, excluding PXE-like conditions. PXE is currently an intractable disease; although the cutaneous findings primarily present a cosmetic problem, they signify the risk for development of ocular and cardiovascular complications associated with considerable morbidity and mortality. The purpose of this review is to present a comprehensive overview of this rare form of hereditary connective tissue disorders, focus on the pathogenesis, the clinical manifestation, and the differential diagnosis of PXE. Emphasis is also placed on the management of cutaneous lesions and treatment perspectives of PXE.
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Original Articles
  • Lisa Cordeiro, Floridette Abucayan, Randi Hagerman, Flora Tassone, Dav ...
    Volume 4 (2015) Issue 3 Pages 123-130
    Released: August 22, 2015
    JOURNALS FREE ACCESS
    A very high proportion of individuals with fragile X syndrome (FXS) (FMR1 full mutation, > 200 CGG repeats) experience clinically significant anxiety. Recent evidence suggests that adult fragile X premutation carriers (55-200 CGG repeats) also are at risk for anxiety disorders, and they demonstrate limbic system alterations mediated by FMRP and/or elevated FMR1 mRNA that may explain this heightened risk. However, less is known about psychiatric symptoms including anxiety among children and adolescents with the premutation. We completed structured DSM-IV based diagnostic interviews focused on current anxiety in 35 children, adolescents or young adults with the premutation (ages 5-23 years, M = 11.3 ± 4.3; 27 male; 20 probands and 15 non-probands) and 31 controls (ages 5-18 years, M = 9.9 ± 3.6; 22 males). Among premutation carriers, 70.6% met criteria for at least one anxiety disorder (most frequently generalized anxiety disorder, specific phobia, social phobia, or obsessive compulsive disorder), compared to 22.6% of controls and 9.8% of the general population in this age range. Premutation carriers with intellectual disability, male gender, and proband status were associated with the highest rates of anxiety disorders. However, non-probands did have higher rates of having any anxiety disorder (40.0%) compared to general population norms. Although the results implicate anxiety as a target of screening and intervention among youth with the premutation, larger studies of unselected samples from the population of premutation carriers are needed to confirm and specify the degree and extent of psychiatric disorders in this condition.
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  • Junzhen Zhu, Qinying Cao, Ning Zhang, Jun Ge, Donglan Sun, Qingqi Feng
    Volume 4 (2015) Issue 3 Pages 131-138
    Released: August 22, 2015
    JOURNALS FREE ACCESS
    Hearing loss is the most common sensory disorder, and at least 50% of cases are due to a genetic etiology. Two-thirds of individuals with congenital deafness are nonsyndromic. Among the nonsyndromic forms, the large majority are monogenic autosomal recessive traits. The current work summarizes mutations in the GJB2, SLC26A4, 12SrRNA, and GJB3 and their prevalence in 318 students with autosomal recessive nonsyndromic hearing loss at schools for the deaf or special needs schools in 9 cities in Hebei Province, China. Deafness gene mutations were identified in 137 students via a gene chip, time-of-flight mass spectrometry, fluorescence quantitative PCR, and gene sequencing. Mutations were detected at a rate of 43.08%. A homozygous mutation of the GJB2 gene was found in 16 students (5.03%), a heterozygous mutation of that gene was found in 38 (11.95%), a homozygous mutation of the SLC26A4 gene was found in 22 (6.92%), a heterozygous mutation of that gene was found in 59 (18.55%), and a heterozygous mutation of the mitochondrial 12SrRNA gene was found in 2 (0.63%). In addition, there were 15 families in which a student’s parents had normal hearing. Compound heterozygous mutations of the GJB2 gene were found in 3 families (20%) and mutations of the SLC26A4 gene were found in 9 (60%). Thus, this study has provided a molecular diagnostic basis for the causes of deafness, and this study has also provided a scientific basis for the early prevention of and intervention in deafness.
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Case Reports
  • Tr iIndah Winarni, Andrea Schneider, Neera Ghaziuddin, Andreea Seritan ...
    Volume 4 (2015) Issue 3 Pages 139-146
    Released: August 22, 2015
    JOURNALS FREE ACCESS
    Fragile X mental retardation 1 (FMR1) premutation associated phenotypes have been explored extensively since the molecular mechanism emerged involving elevated FMR1 messenger ribonucleic acid (mRNA) levels. Lowered fragile X mental retardation protein (FMRP) can also occur which may have an additive effect to the high levels of mRNA leading to neurodevelopmental problems and psychopathology. This paper was aimed to review psychosis and catatonia in premutation carriers, express the role of elevated FMR1 mRNA and lowered FMRP in the phenotype of carriers and present a case of psychosis and catatonia in a carrier. This case also demonstrates additional genetic and environmental factors which may also affect the phenotype. We review the literature and report an exemplary case of a 25 year old male premutation carrier with elevated FMR1 mRNA, low FMRP, a cytochrome P450 family 2 subfamily D polypeptide 6 (CYP2D6)*2xN mutation and a perinatal insult. This patient developed an autism spectrum disorder, psychosis, catatonia with subsequent cognitive decline after electro-convulsive therapy (ECT) for his catatonia. He had a premutation of 72 CGG repeat in FMR1, FMR1 mRNA level that was over 2.4 times normal and FMRP level at 18% of normal, and additionally, a CYP2D6 allelic variant which leads to ultrarapid metabolism (UM) of medication. There is an overlapping pathophysiological mechanism of catatonia and fragile X-associated premutation phenotypes including autism and psychosis. This case demonstrates the shared phenotype and the overlap of the pathophysiological mechanisms that can influence the intervention. Multiple genetic and environmental hits can lead to more significant involvement in premutation carriers.
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  • Xianling Zeng, Xi Liu, Quan Tian, Yan Xue, Ruifang An
    Volume 4 (2015) Issue 3 Pages 147-151
    Released: August 22, 2015
    [Advance publication] Released: June 23, 2015
    JOURNALS FREE ACCESS
    Here, we report a case of a placental site trophoblastic tumor (PSTT) in a 36-year-old Chinese woman 10 months after a normal pregnancy. Two months postpartum, the woman presented with abnormal vaginal discharge and her condition was overlooked by her local hospital. The woman did not receive further attention until a mass with a heterogeneous echo was found in an ultrasound examination eight months postpartum. The final diagnosis was confirmed by histological examinations in conjunction with immunohistochemical studies. Since the patient had potential risk factors, she was successfully treated with a hysterectomy and peri- and post-operative chemotherapy. The latest follow-up (16 months after diagnosis) was uneventful, and the patient exhibited no signs of recurrence or metastasis.
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  • Tomoko Matsuzono, Cyrus Yin-Ho Chan, May Yuk-May Chan
    Volume 4 (2015) Issue 3 Pages 152-154
    Released: August 22, 2015
    [Advance publication] Released: June 23, 2015
    JOURNALS FREE ACCESS
    A 56 year old postmenopausal lady presented with a rapidly enlarging pelvis mass. Clinical and ultrasonographic features were compatible with a rapidly enlarging fibroid with possible sarcomatous changes, and hence, computated tomography (CT) scan was performed to further delineate the nature and extent of the disease. However, CT scan revealed a huge tumour arising from the retroperitoneal space along the course of the left gonadal vein with typical radiological features of a gonadal vein leiomyosarcoma which were described in previous literatures. With joint collaboration with the surgeons, radical surgery with optimal debulking was subsequently performed for the patient and the diagnosis was confirmed intra-operatively and histologically.
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  • Yafei Zhang, Hongwei Lu, Hong Ji, Yiming Li
    Volume 4 (2015) Issue 3 Pages 155-158
    Released: August 22, 2015
    [Advance publication] Released: July 20, 2015
    JOURNALS FREE ACCESS
    Reported here is the case of a 55-year-old man who had tarry stools for 3 days before he was seen at this Department. The man had weight loss and an intermittent fever for 3 months prior. Histopathology revealed an inflammatory pseudotumor of the liver. This case is reported here along with a review of the literature. Nine days after surgery, the patient passed bright red blood (150 mL) in the stool with no clear trigger. A colonoscopy a month later revealed no abnormalities. This is a rare report of an inflammatory pseudotumor featuring intractable bleeding. An inflammatory pseudotumor of the liver is a rare condition, and differentiating this pseudotumor from hepatic space-occupying lesions is crucial. An inflammatory pseudotumor of the liver may spontaneously regress and mimic other liver tumors. The treatment of choice for this pseudotumor is still surgical resection, and this is especially true for patients with severe symptoms or an indeterminate diagnosis.
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  • Sinan Inci, Ibrahim Izgu, Halil Aktas, Pinar Dogan, Ali Dogan
    Volume 4 (2015) Issue 3 Pages 159-161
    Released: August 22, 2015
    JOURNALS FREE ACCESS
    Complications in the accessory pathway in Wolff-Parkinson-White (WPW) syndrome could cause different clinical conditions by inducing different arrhythmias. Atrial fibrillation (AF) is one of these arrhythmias and is important as it causes life-threatening arrhythmias. It is known that some drugs, underlying cardiac diseases, and the number of accessory pathways, cause a predisposition to this condition. In the current report, we presented a patient with WPW who was admitted to the emergency department with AF, wide QRS and a rapid ventricular response that progressed to ventricular fibrillation.
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Commentary
  • Patrick R. Benusiglio
    Volume 4 (2015) Issue 3 Pages 162-163
    Released: August 22, 2015
    [Advance publication] Released: June 23, 2015
    JOURNALS FREE ACCESS
    Birt-Hogg-Dubé is a rare syndrome in which carriers of germline mutations in the FLCN tumor suppressor gene are at risk of renal cell carcinoma of all histologies, most often of the chromophobe or hybrid chromophobe-oncocytoma type. Non-oncological manifestations such as lung cysts, pneumothoraces and skin fibrofolliculomas are also common. How germline mutations in a single gene can cause such different clinical features is intriguing and not fully explained, but involvement of the mTOR (renal cell carcinomas, lung cysts) and WNT (fibrofolliculomas) pathways has been described. Given the rarity of the condition, frequent exchanges of ideas between expert teams from around the world, multicentre international collaborations, and interactions between patients and researchers are essential. These needs are fulfilled through dedicated international symposia held every one to two years and through online resources aimed at patients and relatives.
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Letter
  • John E. Madias
    Volume 4 (2015) Issue 3 Pages 164
    Released: August 22, 2015
    [Advance publication] Released: June 23, 2015
    JOURNALS FREE ACCESS
    I enjoyed reading the report by Demirelli et al., published in the May, 2015 issue of the Intractable & Rare Diseases Research, pertaining to a 59 year old woman with emotional stress-induced anterior mid-ventricular Takotsubo syndrome (TTS) variant (1). The authors described the electrocardiogram (ECG) as showing T-wave inversions (TWI) in leads V1-V4.A recent paper reported an ECG correlate of TTS consisting of transient low voltage QRS (LVQRS) complexes (2). These ECG changes have been attributed to TTS-induced myocardial edema (ME), as detected by cardiac magnetic resonance imaging (cMRI) (2). Also TWI has been attributed to apicobasal ME gradient, as detected by cMRI (3). The present patient had a cMRI 4 weeks after her discharge, which confirmed the absence of chronic scar changes, compatible with TTS, but such late cMRI would not be suitable for the detection of ME, an early feature of TTS. Transient LVQRS often impacts the limb ECG leads (2), while affects leads I and aVL in patients with the midventricular TTS variant (4,5). Did this patient show transient LVQRS in the V1-V4 leads, which showed TWI? Also if serial ECGs were recorded, and if there was an ECG of this patient recorded prior to her admission with TTS, and at her 4 week follow-up, were there any transient LVQRS ECG changes, and in which leads?
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