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Overlap syndrome

Yanqin Lu, Yanzhou Wang, Frank Rauch, Hu Li, Yao Zhang, Naixiang Zhai, Jian Zhang, Xiuzhi Ren, Jinxiang Han
Osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS) are rare genetic disorders that are typically inherited in an autosomal dominant manner. Few cases of OI/EDS overlap syndrome have been documented. Described here is a 30-year-old Chinese male with OI type III and EDS. Sequencing of genomic DNA revealed a heterozygous COL1A1 mutation (c.671G>A, p.Gly224Asp) that affected the N-anchor domain of the alpha 1 chain of collagen type I. Ultrastructural analysis of a skin biopsy specimen revealed thin collagen fibers with irregular alignment of collagen fibers...
February 2018: Intractable & Rare Diseases Research
Marta Zamarbide, Adam W Oaks, Heather L Pond, Julia S Adelman, M Chiara Manzini
Hundreds of genes are mutated in non-syndromic intellectual disability (ID) and autism spectrum disorder (ASD), with each gene often involved in only a handful of cases. Such heterogeneity can be daunting, but rare recessive loss of function (LOF) mutations can be a good starting point to provide insight into the mechanisms of neurodevelopmental disease. Biallelic LOF mutations in the signaling scaffold CC2D1A cause a rare form of autosomal recessive ID, sometimes associated with ASD and seizures. In parallel, we recently reported that Cc2d1a -deficient mice present with cognitive and social deficits, hyperactivity and anxiety...
2018: Frontiers in Genetics
Mari Hikichi, Shu Hashimoto, Yasuhiro Gon
Asthma and COPD appear as a result of different mechanisms triggered by different pathogeneses and although they present different features and symptoms of airway inflammation and airway obstruction, there are also cases that present the features of both asthma and COPD. This type of pathology is known as asthma-COPD overlap syndrome (ACOS). Asthma-COPD overlap is identified in clinical practice by the features that it shares with both asthma and COPD. This is not a definition, but a description for clinical use, as asthma-COPD overlap includes several different clinical phenotypes and there are likely to be several different underlying mechanisms"...
March 14, 2018: Allergology International: Official Journal of the Japanese Society of Allergology
Jennifer L Medlin, Karen E Hansen, Sara S McCoy, Christie M Bartels
OBJECTIVES: Phenotypes differ between late- and early-onset systemic lupus erythematosus (SLE). Prior studies suggested that there may be more pulmonary disease among late-onset patients. Our objective was to perform a systematic review and meta-analysis to evaluate the differences in pulmonary manifestations in late- versus early-onset SLE. METHODS: We searched the literature using PubMed, CINAHL, Web of Science, Cochrane Library, and EMBASE. We excluded studies that did not include American College of Rheumatology SLE classification criteria, an early-onset SLE comparison group, or those that defined late-onset SLE as <50 years of age...
January 31, 2018: Seminars in Arthritis and Rheumatism
Trent Edwards, Craig Friesen, Jennifer V Schurman
BACKGROUND: The primary purpose of this study was to compare Rome III and IV evaluation criteria for irritable bowel syndrome (IBS), functional dyspepsia (FD), and an overlap syndrome consisting of both IBS and FD by assessing the frequency of each diagnosis in a population of children with chronic abdominal pain. Frequencies of Rome IV FD subtypes of postprandial distress syndrome (PDS) and epigastric pain syndrome (EPS) were determined and FD/IBS overlap symptom associations were also assessed...
March 17, 2018: BMC Gastroenterology
Makoto Hara, Eugenia Martinez-Hernandez, Helena Ariño, Thais Armangué, Marianna Spatola, Mar Petit-Pedrol, Albert Saiz, Myrna R Rosenfeld, Francesc Graus, Josep Dalmau
OBJECTIVE: To determine the frequency and clinical relevance of immunoglobulin (Ig)G, IgA, and IgM N -methyl-d-aspartate receptor (NMDAR) antibodies in several diseases, and whether the IgG antibodies occur in disorders other than anti-NMDAR encephalitis. METHODS: Evaluation of IgG, IgA, and IgM NMDAR antibodies in serum of 300 patients with anti-NMDAR encephalitis, stroke, dementia, schizophrenia, or seronegative autoimmune encephalitis. Antibodies and their effect on cultured neurons were examined with cell-based assays and brain and live neuronal immunostaining...
March 16, 2018: Neurology
Jeffrey Zielich, Elena Tzima, Eva Ayla Schröder, Faten Jemel, Barbara Conradt, Eric J Lambie
P5B ATPases are present in the genomes of diverse unicellular and multicellular eukaryotes, indicating that they have an ancient origin, and that they are important for cellular fitness. Inactivation of ATP13A2, one of the four human P5B ATPases, leads to early-onset Parkinson's disease (Kufor-Rakeb Syndrome). The presence of an invariant PPALP motif within the putative substrate interaction pocket of transmembrane segment M4 suggests that all P5B ATPases might have similar transport specificity; however, the identity of the transport substrate(s) remains unknown...
2018: PloS One
C Le Roy, G Larios, D Springmüller, C Clavería
INTRODUCTION: Children with congenital heart disease (CHD) present a high percentage of undern utrition and the interpretation of their nutritional assessment is difficult. OBJECTIVE: To describe the nutritional status of infants with CHD using two anthropometric classifications and compare them. PATIENTS AND METHOD: Non-concurrent cohort study. We studied children under 12 months under going cardiac surgery. We excluded preterm infants, small for gestational age, carriers of genetic syndrome or other disease with nutritional compromise...
December 2017: Revista Chilena de Pediatría
Loïc Peter, Marcel Tella-Amo, Dzhoshkun Ismail Shakir, George Attilakos, Ruwan Wimalasundera, Jan Deprest, Sébastien Ourselin, Tom Vercauteren
PURPOSE: The standard clinical treatment of Twin-to-Twin transfusion syndrome consists in the photo-coagulation of undesired anastomoses located on the placenta which are responsible to a blood transfer between the two twins. While being the standard of care procedure, fetoscopy suffers from a limited field-of-view of the placenta resulting in missed anastomoses. To facilitate the task of the clinician, building a global map of the placenta providing a larger overview of the vascular network is highly desired...
March 15, 2018: International Journal of Computer Assisted Radiology and Surgery
Ya-Mei Zhang, Han-Bo Yang, Jing-Li Shi, He Chen, Xiao-Ming Shu, Xin Lu, Guo-Chun Wang, Qing-Lin Peng
Autoantibodies against poly-U-binding factor 60 kDa protein (PUF60) have been reported in Caucasian dermatomyositis (DM) patients. However, their clinical significance in idiopathic inflammatory myopathy (IIM) remains to be fully clarified. Our objective was to analyze the prevalence and clinical significance of anti-PUF60 antibodies in a large cohort of Chinese IIM patients. In our study, 388 IIM patients, 301 disease controls, and 167 healthy controls (HCs) were involved. An enzyme-linked immunosorbent assay (ELISA) was developed to detect serum anti-PUF60 levels and was validated using immunoblotting methods...
March 15, 2018: Clinical Rheumatology
Jessada Thutkawkorapin, Hovsep Mahdessian, Tom Barber, Simone Picelli, Susanna von Holst, Johanna Lundin, Laura Valle, Vinaykumar Kontham, Tao Liu, Daniel Nilsson, Xiang Jiao, Annika Lindblom
Highly penetrant cancer syndromes account for less than 5% of all cases with familial colorectal cancer (CRC), and other genetic contribution explains the majority of the genetic contribution to CRC. A CRC susceptibility locus on chromosome 9q has been suggested. In this study, families where risk of CRC was linked to the region, were used to search for predisposing mutations in all genes in the region. No disease-causing mutation was found. Next, haplotype association studies were performed in the region, comparing Swedish CRC cases (2664) and controls (4782)...
February 16, 2018: Oncotarget
Arti Nanda, Maitham A A Husain, Waleed Al-Herz, Adla Almekaimi, Humoud Al-Sabah, Mohammad Al-Otaibi
BACKGROUND/OBJECTIVES: Allogeneic hematopoietic stem cell transplantation (HSCT) is a treatment option for many life-threatening disorders in children. Chronic graft-versus-host disease (cGVHD) is a significant complication of HSCT, and its treatment is challenging. Skin is the most common organ affected in cGVHD, with protean manifestations posing a challenge in diagnosis and management. The objective was to have a better understanding of the spectrum of chronic cutaneous GVHD (cc-GVHD) in children...
March 14, 2018: Pediatric Dermatology
Min Hu, Yuehui Zhang, Jiaxing Feng, Xue Xu, Jiao Zhang, Wei Zhao, Xiaozhu Guo, Juan Li, Edvin Vestin, Peng Cui, Xin Li, Xiaoke Wu, Mats Brannstrom, Linus R Shao, Hakan Billig
Impaired progesterone (P4) signaling is linked to endometrial dysfunction and infertility in women with polycystic ovary syndrome (PCOS). Here we report for the first time that elevated expression of progesterone receptor (PGR) isoforms A and B parallels increased estrogen receptor (ER) expression in PCOS-like rat uteri. The aberrant PGR-targeted gene expression in PCOS-like rats before and after implantation overlaps with dysregulated expression of Fkbp52 and Ncoa2, two genes that contribute to the development of uterine P4 resistance...
March 13, 2018: Journal of Endocrinology
Michela Semeraro, Sara Boenzi, Rosalba Carrozzo, Daria Diodato, Diego Martinelli, Giorgia Olivieri, Giacomo Antonetti, Elisa Sacchetti, Giulio Catesini, Cristiano Rizzo, Carlo Dionisi-Vici
Single large-scale mitochondrial DNA deletions disorders are classified into three main phenotypes with frequent clinical overlap: Pearson marrow-pancreas syndrome (PMS), Kearns-Sayre syndrome (KSS) and chronic progressive external ophtalmoplegia (PEO). So far, only few anecdotal studies have reported on the urinary organic acids profile in this disease class. In this single-center retrospective study, we performed quantitative evaluation of urinary organic acids in a series of 15 pediatric patients, 7 with PMS and 8 with KSS...
March 10, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
Farid Talih, Nour Y Gebara, Farah S Andary, Stefania Mondello, Firas Kobeissy, Raffaele Ferri
Circadian rhythm disturbances are common in bipolar affective disorder (BD). Delayed sleep-wake phase syndrome (DSWPD) is the most prevalent circadian rhythm sleep-wake disorder (CRSWDs) and is frequently observed in BD. It is unclear whether DSWPD in BD is an independent process or is a consequence of BD. In this hypothetical review, we discuss the overlap between BD and DSWPD and potential common biomarkers for DSWPD and BD. The review will include a discussion of the genetics of DSWPD and BD. Biomarkers elucidating the pathophysiological processes occurring in these two disorders may offer insight into the etiology and prognosis of both conditions...
February 13, 2018: Sleep Medicine Reviews
Takuya Furuta, Hiroaki Miyoshi, Satoru Komaki, Fumiko Arakawa, Motohiro Morioka, Koichi Ohshima, Mitsutoshi Nakada, Yasuo Sugita
Epithelioid glioblastoma (eGBM) is a rare variant of GBM which was adopted in the 2016 WHO classification. eGBM and pleomorphic xanthoastrocytoma (PXA) sometimes show overlapping features histologically and genetically, such as epithelioid pattern and a highly frequent V600E mutation in the gene for vRAF murine sarcoma viral oncogene homolog B1 (BRAF), respectively. Accurate diagnosis of these rare tumors is challenging according to the new criteria in the revised 2016 WHO classification. It is an urgent task to elucidate the biological properties of the tumors and to select appropriate treatment...
March 13, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
Louis Sass, Juan P Borda, Luis Madeira, Elizabeth Pienkos, Barnaby Nelson
The self-disorder model offers a unifying way of conceptualizing schizophrenia's highly diverse symptoms (positive, negative, disorganized), of capturing their distinctive bizarreness, and of conceiving their longitudinal development. These symptoms are viewed as differing manifestations of an underlying disorder of ipseity or core-self: hyper-reflexivity/diminished-self-presence with accompanying disturbances of "grip" or "hold" on reality. Recent revision to this phenomenological theory, in particular distinguishing primary-vs-secondary factors, offers a bio-pheno-social model that is consistent with recent empirical findings and offers several advantages: (1) It helps account for the temporal variations of the symptoms or syndrome, including longitudinal progression, but also the shorter-term, situationally reactive, and sometimes defensive or quasi-intentional variability of symptom-expression that can occur in schizophrenia (consistent with understanding some aspects of ipseity-disturbance as dynamic and mutable, involving shifting attitudes or experiential orientations)...
February 5, 2018: Schizophrenia Bulletin
Erik K St Louis
Apathy has been recently recognized as a distinct neuropsychological syndrome, overlapping with but also separable from mood disorders and cognitive impairment. While it is perhaps seen most often as a cardinal feature of depression as an amotivational symptom, it may occur independently in isolation without other prominent mood, vegetative, or cognitive symptoms or signs. The etymology of apathy is derived from the Greek "pathos" (passion), so apathy may be considered to be an amotivational state, i...
March 12, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Jisoo Park, Eun Kyung Kim, Mi Ae Kim, Tae Hyung Kim, Jung Hyun Chang, Yon Ju Ryu, Sei Won Lee, Yeon Mok Oh, Suk Joong Yong, Won Il Choi, Kwang Ha Yoo, Ji Hyun Lee
BACKGROUND: Obstructive airway disease patients with increased variability of airflow and incompletely reversible airflow obstruction are often categorized as having asthma-chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS). ACOS is heterogeneous with two sub-phenotypes: asthma-ACOS and COPD-ACOS. The objective of this study was to determine the difference in risk of exacerbation between the two sub-phenotypes of ACOS. METHODS: A total of 223 patients exhibiting incompletely reversible airflow obstruction with increased variability (spirometrically defined ACOS) were enrolled...
March 7, 2018: Tuberculosis and Respiratory Diseases
Pierpaolo Baiamonte, Emilia Mazzuca, Claudia I Gruttad'Auria, Alessandra Castrogiovanni, Claudia Marino, Davide Lo Nardo, Marco Basile, Margherita Algeri, Salvatore Battaglia, Oreste Marrone, Andrea Gagliardo, Maria R Bonsignore
Continuous positive airway pressure (CPAP) is the first-choice treatment for obstructive sleep-disordered breathing. Automatic bilevel ventilation can be used to treat obstructive sleep-disordered breathing when CPAP is ineffective, but clinical experience is still limited. To assess the outcome of titration with CPAP and automatic bilevel ventilation, the charts of 356 outpatients (obstructive sleep apnea, n = 242; chronic obstructive pulmonary disease + obstructive sleep apnea overlap, n = 80; obesity hypoventilation syndrome [OHS], n = 34; 103 females) treated for obstructive sleep-disordered breathing from January 2014 to April 2017 were reviewed...
March 12, 2018: Journal of Sleep Research
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