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Christine M Clark, Shivani Shah-Becker, Abraham Mathew, Neerav Goyal
A patient with Rett syndrome presented to our Emergency Department with extensive subcutaneous emphysema in the cervical region, chest wall, upper extremities, and back. Diagnostic evaluation revealed a mucosal tear in the posterior pharyngeal wall and an abscessed retropharyngeal lymph node, but she had no known history of trauma to account for these findings. This report discusses the occurrence of subcutaneous emphysema in the context of a rare neurodevelopmental disorder and proposes accentuated aerophagia, a sequela of Rett syndrome, as the most likely underlying mechanism...
March 2018: Ear, Nose, & Throat Journal
Florian B Pokorny, Katrin D Bartl-Pokorny, Christa Einspieler, Dajie Zhang, Ralf Vollmann, Sven Bölte, Markus Gugatschka, Björn W Schuller, Peter B Marschik
BACKGROUND: Early speech-language development of individuals with Rett syndrome (RTT) has been repeatedly characterised by a co-occurrence of apparently typical and atypical vocalisations. AIMS: To describe specific features of this intermittent character of typical versus atypical early RTT-associated vocalisations by combining auditory Gestalt perception and acoustic vocalisation analysis. METHODS AND PROCEDURES: We extracted N = 363 (pre-)linguistic vocalisations from home video recordings of an infant later diagnosed with RTT...
March 15, 2018: Research in Developmental Disabilities
Daisuke Hirano, Takamichi Taniguchi
[Purpose] Rett syndrome is a severe neurodevelopmental disease; individuals typically have no verbal skills or purposeful hand movements. In clinical settings, knowledge of their interests would be helpful for therapy. Therefore, we investigated the interests of Rett syndrome patients. [Subjects and Methods] In 2016, we sent a questionnaire regarding the interests of individuals with Rett syndrome to 1,016 directors of schools for special needs education and 204 directors of rehabilitation departments (130 facilities for persons with severe motor and intellectual disabilities, 73 wards for patients with severe motor and intellectual disabilities, and the National Hospital Organization and National Center Hospital, and the National Center of Neurology and Psychiatry) in Japan...
February 2018: Journal of Physical Therapy Science
Kotaro Yuge, Kazuhiro Iwama, Chihiro Yonee, Mayumi Matsufuji, Nozomi Sano, Tomoko Saikusa, Yukako Yae, Yushiro Yamashita, Takeshi Mizuguchi, Naomichi Matsumoto, Toyojiro Matsuishi
Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age...
March 12, 2018: Brain & Development
Kedarlal Sharma, JuhiSingh, Emma E Frost, Prakash P Pillai
MethylCpG binding protein-2 (MeCP2) is an epigenetic regulator and essential for brain development.MeCP2 mutations are associated with a spectrum of neuro-developmental disorders that vary depending on the patient gender, most notably Rett Syndrome. MeCP2 is essential for normal neuronal maturation, and glial cell function in the brain. Besides, its role in neurodevelopmental disorders, MeCP2 is involved in many cancers such as breast, colorectal, lung, liver, and prostate cancer. Glioma is the most lethal form of brain cancer...
March 11, 2018: Neuroscience Letters
Jessica MacKay, Helen Leonard, Kingsley Wong, Andrew Wilson, Jenny Downs
AIM: Respiratory illness is a major cause of morbidity and mortality in Rett syndrome. This study investigated respiratory morbidity and relationships with age, mutation type, feeding, and walking status. METHOD: Families registered with the InterRett database (n=399) provided data on the health of their child with Rett syndrome (age 2-57y). Hospital admissions because of lower respiratory tract infection (LRTI) over a 5-year exposure period were investigated by age, mutation type, enteral feeding, and walking status...
March 14, 2018: Developmental Medicine and Child Neurology
Saki Hirofuji, Yuta Hirofuji, Hiroki Kato, Keiji Masuda, Haruyoshi Yamaza, Hiroshi Sato, Fumiko Takayama, Michiko Torio, Yasunari Sakai, Shouichi Ohga, Tomoaki Taguchi, Kazuaki Nonaka
Rett syndrome is an X-linked neurodevelopmental disorder associated with psychomotor impairments, autonomic dysfunctions and autism. Patients with Rett syndrome have loss-of-function mutations in MECP2, the gene encoding methyl-CpG-binding protein 2 (MeCP2). Abnormal biogenic amine signaling and mitochondrial function have been found in patients with Rett syndrome; however, few studies have analyzed the association between these factors. This study investigated the functional relationships between mitochondria and the neuronal differentiation of the MeCP2-deficient stem cells from the exfoliated deciduous teeth of a child with Rett syndrome...
March 10, 2018: Biochemical and Biophysical Research Communications
Rocco Gogliotti, Nicole Fisher, Branden Stansley, Carrie Jones, Craig Lindsley, Jeffrey Conn, Colleen Niswender
Mutations in the Methyl CpG Binding Protein 2 (MECP2) gene are responsible for the neurodevelopmental disorder Rett syndrome (RTT). MeCP2 is a DNA-binding protein whose abundance and ability to complex with HDAC3 is linked to the regulation of chromatin structure. Consequently, loss-of-function mutations in MeCP2 are predicted to have broad effects on gene expression. However, to date, studies in mouse models of RTT have identified a limited number of gene or pathway-level disruptions, and even fewer genes have been identified that could be considered amenable to classical drug discovery approaches...
March 9, 2018: Journal of Pharmacology and Experimental Therapeutics
Yonatan Perez, Shay Menascu, Idan Cohen, Rotem Kadir, Omer Basha, Zamir Shorer, Hila Romi, Gal Meiri, Tatiana Rabinski, Rivka Ofir, Esti Yeger-Lotem, Ohad S Birk
RSRC1, whose polymorphism is associated with altered brain function in schizophrenia, is a member of the serine and arginine rich-related protein family. Through homozygosity mapping and whole exome sequencing we show that RSRC1 mutation causes an autosomal recessive syndrome of intellectual disability, aberrant behaviour, hypotonia and mild facial dysmorphism with normal brain MRI. Further, we show that RSRC1 is ubiquitously expressed, and that the RSRC1 mutation triggers nonsense-mediated mRNA decay of the RSRC1 transcript in patients' fibroblasts...
March 7, 2018: Brain: a Journal of Neurology
Tomoko Saikusa, Munetsugu Hara, Kazuhiro Iwama, Kotaro Yuge, Chihiro Ohba, Jun-Ichiro Okada, Tadashi Hisano, Yushiro Yamashita, Nobuhiko Okamoto, Hirotomo Saitsu, Naomichi Matsumoto, Toyojiro Matsuishi
We present a unique 11-year-old girl showing clinical features of Rett-related disorder with distinctive facial features and multiple congenital anomalies including ocular hypertelorism, arched eyebrows, a broad nose, dental anomalies, congenital heart disease, truncal obesity, and epilepsy. A novel de novo mutation in histone deacetylase 8 (HDAC8) (c.652G > T, p.Gly218Cys) was confirmed by whole exome sequencing and Sanger sequencing. X-chromosome inactivation analysis on DNA isolated from peripheral blood lymphocytes revealed a completely skewed pattern associated with an inactive maternal allele...
March 5, 2018: Brain & Development
Dan Ziegler, Rüdiger Landgraf, Ralf Lobmann, Karlheinz Reiners, Kristian Rett, Oliver Schnell, Alexander Strom
AIMS: We conducted a nationwide educational initiative to determine the prevalence and risk factors of diagnosed and undiagnosed painful and painless distal sensory polyneuropathy (DSPN). METHODS: Among 1,850 participants, 781 had no history of diabetes (ND), 126 had type 1 diabetes (T1D), and 943 had type 2 diabetes (T2D). Painful DSPN was defined as polyneuropathy detected by bedside tests with pain and/or burning in the feet, while painless DSPN was defined as polyneuropathy with paresthesias, numbness, or absence of symptoms...
March 5, 2018: Diabetes Research and Clinical Practice
Steffen Vogelgesang, Marcus Niebert, Anne M Bischoff, Swen Hülsmann, Till Manzke
Mutations in the transcription factor methyl-CpG-binding protein 2 (MeCP2) cause the neurodevelopmental disorder Rett syndrome (RTT). Besides many other neurological problems, RTT patients show irregular breathing with recurrent apneas or breath-holdings. MeCP2-deficient mice, which recapitulate this breathing phenotype, show a dysregulated, persistent expression of G-protein-coupled serotonin receptor 5-ht5b ( Htr5b ) in the brainstem. To investigate whether the persistence of 5-ht5b expression is contributing to the respiratory phenotype, we crossbred MeCP2-deficient mice with 5-ht5b -deficient mice to generate double knockout mice ( Mecp2-/y ; Htr5b -/- )...
2018: Frontiers in Molecular Neuroscience
Alyssa M Merbler, Breanne J Byiers, John J Garcia, Timothy J Feyma, Frank J Symons
BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in the MECP2 gene. Sleep problems are reported by the majority of caregivers of individuals with RTT. METHODS: The present study aimed to replicate and extend previous work about the feasibility of measuring sleep with an actigraph device in a sample of girls with clinically diagnosed RTT (N = 13, mean age = 9 years, 5 months). Participants wore an actigraph device day and night for seven consecutive days...
February 27, 2018: Journal of Neurodevelopmental Disorders
Bernd A Neubauer
No abstract text is available yet for this article.
February 26, 2018: Neuropediatrics
Josette Mancini, Jean-Christophe Dubus, Elisabeth Jouve, Jean-Christophe Roux, Patricia Franco, Emmanuelle Lagrue, Pierre Castelnau, Claude Cances, Yves Chaix, Christelle Rougeot-Jung, Catherine Cornu, Vincent Desportes, Louis Vallée, Nadia Bahi-Buisson, Romain Truillet, Laurence Attolini, Laurent Villard, Olivier Blin, Joëlle Micallef
Objective: Rett Syndrome (RTT) is a severe neurodevelopmental condition with breathing disorders, affecting around one in 10,000 female births. Desipramine, a noradrenaline reuptake inhibitor, reduced the number of apneas in Mecp2-deficient mice, a model of RTT. We planned a phase 2 trial to test its efficacy and its safety on breathing patterns in 36 girls with RTT. Methods: The trial was a 6-month, multicenter, randomized, double-blind, placebo-controlled study registered with ClinicalTrials...
February 2018: Annals of Clinical and Translational Neurology
Uri Kahanovitch, Vishnu A Cuddapah, Natasha L Pacheco, Leanne M Holt, Daniel K Mulkey, Alan K Percy, Michelle L Olsen
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder usually caused by mutations in methyl-CpG-binding protein 2 (MeCP2). RTT is typified by apparently normal development until 6-18 mo of age, when motor and communicative skills regress and hand stereotypies, autonomic symptoms, and seizures present. Restoration of MeCP2 function selectively to astrocytes reversed several deficits in a murine model of RTT, but the mechanism of this rescue is unknown. Astrocytes carry out many essential functions required for normal brain functioning, including extracellular K+ buffering...
January 2018: ENeuro
Stephanie M Kyle, Neeti Vashi, Monica J Justice
Rett syndrome (RTT) is a neurological disorder caused by mutations in the X-linked gene methyl-CpG-binding protein 2 ( MECP2 ), a ubiquitously expressed transcriptional regulator. Despite remarkable scientific progress since its discovery, the mechanism by which MECP2 mutations cause RTT symptoms is largely unknown. Consequently, treatment options for patients are currently limited and centred on symptom relief. Thought to be an entirely neurological disorder, RTT research has focused on the role of MECP2 in the central nervous system...
February 2018: Open Biology
Anh Tuan Nguyen, Sabrina Mattiassi, Manuela Loeblein, Eunice Chin, DongLiang Ma, Philippe Coquet, Virgile Viasnoff, E H T Teo, Eyleen L Goh, Evelyn Yim
Studies of electrical stimulation therapies for the treatment of neurological disorders, such as deep brain stimulation, have almost exclusively been performed using animal-models. However, because animal-models can only approximate human brain disorders, these studies should be supplemented with an in vitro human cell-culture based model to substantiate the results of animal-based studies and further investigate therapeutic benefit in humans. This study presents a novel approach to analyse the effect of electrical stimulation on the neurogenesis of patient-induced pluripotent stem cell (iPSC) derived neural progenitor cell (NPC) lines, in vitro using a 3D graphene scaffold system...
February 14, 2018: Biomedical Materials
Taimoor I Sheikh, Ricardo Harripaul, Muhammad Ayub, John B Vincent
Mutations in the Methyl-CpG-binding protein-2 gene (MECP2) are commonly associated with Rett syndrome. However, it has long been appreciated that there exists a spectrum of neuropsychiatric phenotypes associated with MECP2 variants. The most frequent Rett missense mutations are located in either the methyl-CpG-binding domain (MBD) or transcription repression domain (TRD). Clinical roles for mutations in other domains such as the intervening domain (ID) or AT-Hook domains have yet to be determined. Here, we report functional analysis of MECP2 missense mutations, located in AT-Hook1 within the ID, in a large Pakistani family with childhood onset cognitive decline and schizophrenia, de novo in a girl with atypical Rett syndrome, and de novo in a woman with schizophrenia...
February 12, 2018: Human Mutation
Meenakshi Lallar, Archana Rai, Priyanka Srivastava, Kausik Mandal, Neerja Gupta, Madhulika Kabra, Shubha R Phadke
OBJECTIVE: To assess yield of MECP2 gene sequence variations analysis and large deletions in suspected cases of Rett syndrome. DESIGN: Descriptive study. SETTING: Tertiary-care medical genetics center. PATIENTS: Girls with neuroregression, postnatal microcephaly and signs and symptoms suggestive of classical and atypical Rett syndrome were classified into two groups. Group I consisted of girls with Classical and atypical Rett syndrome on basis on the Revised Rett Syndrome diagnostic criteria, 2010...
February 9, 2018: Indian Pediatrics
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