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Nour Sneige, Kenneth R Hess, Asha S Multani, Yun Gong, Nuhad K Ibrahim
BACKGROUND: The 2013 testing guidelines for determining the human epidermal growth factor receptor 2 (HER2) status include new cutoff points for the HER2/chromosome enumeration probe 17 (CEP17) ratio and the average HER2 copy number per cell, and they recommend using a reflex test with alternative chromosome 17 probes (Ch17Ps) to resolve equivocal HER2 results. This study sought to determine the clinical utility of alternative Ch17Ps in equivocal cases and the effects of equivocal results and/or a change in the HER2 status on patients' outcomes...
November 28, 2016: Cancer
Maria Nicla Loviglio, Christine R Beck, Janson J White, Marion Leleu, Tamar Harel, Nicolas Guex, Anne Niknejad, Weimin Bi, Edward S Chen, Isaac Crespo, Jiong Yan, Wu-Lin Charng, Shen Gu, Ping Fang, Zeynep Coban-Akdemir, Chad A Shaw, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Jacques Rougemont, Ioannis Xenarios, James R Lupski, Alexandre Reymond
BACKGROUND: Smith-Magenis syndrome (SMS) is a developmental disability/multiple congenital anomaly disorder resulting from haploinsufficiency of RAI1. It is characterized by distinctive facial features, brachydactyly, sleep disturbances, and stereotypic behaviors. METHODS: We investigated a cohort of 15 individuals with a clinical suspicion of SMS who showed neither deletion in the SMS critical region nor damaging variants in RAI1 using whole exome sequencing. A combination of network analysis (co-expression and biomedical text mining), transcriptomics, and circularized chromatin conformation capture (4C-seq) was applied to verify whether modified genes are part of the same disease network as known SMS-causing genes...
November 1, 2016: Genome Medicine
Karen Spruyt, Wiebe Braam, Marcel Smits, Leopold Mg Curfs
AIMS: Individuals with Smith-Magenis syndrome (SMS) are reported to have a disrupted circadian rhythm. Our aim was to examine problematic sleeping in those attending our sleep clinic for the first time. METHODS: At intake, caregivers of 50 children and nine adults with SMS were surveyed about the sleep pattern and potential melatonin administration. Sampling of salivary melatonin levels was performed. RESULTS: At intake, exogenous melatonin was used by 16 children (27...
November 2016: CNS Neuroscience & Therapeutics
Wei-Hsiang Huang, Casey J Guenthner, Jin Xu, Tiffany Nguyen, Lindsay A Schwarz, Alex W Wilkinson, Or Gozani, Howard Y Chang, Mehrdad Shamloo, Liqun Luo
Haploinsufficiency of Retinoic Acid Induced 1 (RAI1) causes Smith-Magenis syndrome (SMS), which is associated with diverse neurodevelopmental and behavioral symptoms as well as obesity. RAI1 encodes a nuclear protein but little is known about its molecular function or the cell types responsible for SMS symptoms. Using genetically engineered mice, we found that Rai1 preferentially occupies DNA regions near active promoters and promotes the expression of a group of genes involved in circuit assembly and neuronal communication...
October 19, 2016: Neuron
Fabio Acquaviva, Maria Elena Sana, Matteo Della Monica, Michele Pinelli, Diana Postorivo, Paolo Fontana, Maria Teresa Falco, Anna Maria Nardone, Fortunato Lonardo, Maria Iascone, Gioacchino Scarano
Smith-Magenis syndrome (SMS) is a complex genetic disorder caused by interstitial 17p11.2 deletions encompassing multiple genes, including the retinoic acid induced 1 gene-RAI1-or mutations in RAI1 itself. The clinical spectrum includes developmental delay, cognitive impairment, and behavioral abnormalities, with distinctive physical features that become more evident with age. No patients have been reported to have had offspring. We here describe a girl with developmental delay, mainly compromising the speech area, and her mother with mild intellectual disabilities and minor dysmorphic features...
September 28, 2016: American Journal of Medical Genetics. Part A
Leila Dardour, Pieter Verleyen, Karl Lesage, Maureen Holvoet, Koen Devriendt
Smith-Magenis syndrome (SMS) is a contiguous-gene disorder most commonly caused by a deletion of chromosome 17p11.2. We report a 57 year-old man with SMS who presents bilateral renal tumors. This is most likely related to haploinsufficiency of FLCN gene, located in the deleted region, and a known tumor suppressor gene. Haploinsufficiency of FLCN causes Birt-Hogg-Dubé syndrome (BHDS), characterized by pulmonary cysts, renal and skin tumors. The present observation suggests that the follow-up of patients with SMS should also focus on possible manifestations of BHDS...
October 2016: European Journal of Medical Genetics
Mei Yang, Chen Liang, Kunchithapadam Swaminathan, Stephanie Herrlinger, Fan Lai, Ramin Shiekhattar, Jian-Fu Chen
The intronic GGGGCC hexanucleotide repeat expansion in chromosome 9 open reading frame 72 (C9ORF72) is a prevalent genetic abnormality identified in both frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Smith-Magenis syndrome chromosomal region candidate gene 8 (SMCR8) is a protein with unclear functions. We report that C9ORF72 is a component of a multiprotein complex containing SMCR8, WDR41, and ATG101 (an important regulator of autophagy). The C9ORF72 complex displays guanosine triphosphatase (GTPase) activity and acts as a guanosine diphosphate-guanosine 5'-triphosphate (GDP-GTP) exchange factor (GEF) for RAB39B...
September 2016: Science Advances
Victoria Connor, Sizheng Zhao, Robert Angus
Smith-Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder characterised by behavioural disturbances, intellectual disability and early onset obesity. The physical features of this syndrome are well characterised; however, behavioural features, such as sleep disturbance, are less well understood and difficult to manage. Sleep issues in SMS are likely due to a combination of disturbed melatonin cycle, facial anatomy and obesity-related ventilatory problems. Sleep disorders can be very distressing to patients and their families, as exemplified by our patient's experience, and can worsen behavioural issues as well as general health...
2016: BMJ Case Reports
Shanna L Burke, Peter Maramaldi
The Social Security Administration (SSA) launched the Compassionate Allowances List (CAL) in 2008. This created a mechanism for expediting review and delivery of disability benefits, while decreasing application backlog. This study hypothesized that developmental disorders, such as Smith-Magenis syndrome, may meet criterion for inclusion. An evaluative review of the literature was undertaken to determine if the expedited review criterion was met. Ten databases were searched and articles meeting pre-defined criteria were coded according to the SSA definition of disability to determine if severity indices screen in or screen out certain severity levels or exclude Smith-Magenis syndrome entirely in relation to the CAL program...
August 2016: Intellectual and Developmental Disabilities
Bicheng Yang, Xinhua Tang, Jie Su, Hong Chen, Jinman Zhang, Yifei Yin, Yan Feng, Yinhong Zhang, Shu Zhu, Jie Zhang, Baosheng Zhu
OBJECTIVE: To establish a strategy for screening and diagnosing common microdeletion and microduplication syndromes among children with idiopathic mental retardation and development abnormalities. METHODS: Potential chromosomal variations among patients with unexplained mental retardation, cardiac anomalies, particular facial features, learning disabilities and other clinical characteristics were detected with bacterial artificial chromosome BACs-on-Beads (BoBs) technique and karyotyping...
August 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Márcia B Castro, Bruna K Ferreira, José Henrique Cararo, Adália E Chipindo, Marina L Magenis, Monique Michels, Lucinéia G Danielski, Marcos R de Oliveira, Gustavo C Ferreira, Emilio L Streck, Fabricia Petronilho, Patrícia F Schuck
Galactosemia is a disorder of galactose metabolism, leading to the accumulation of this carbohydrate. Galactosemic patients present brain and liver damage. For evaluated oxidative stress, 30-day-old males Wistar rats were divided into two groups: galactose group, that received a single injection of this carbohydrate (5 μmol/g), and control group, that received saline 0.9 % in the same conditions. One, twelve or twenty-four hours after the administration, animals were euthanized and cerebral cortex, cerebellum, and liver were isolated...
July 7, 2016: Metabolic Brain Disease
Bo Yuan, Juanita Neira, Shen Gu, Tamar Harel, Pengfei Liu, Ignacio Briceño, Sarah H Elsea, Alberto Gómez, Lorraine Potocki, James R Lupski
Hereditary neuropathy with liability to pressure palsies (HNPP) and Smith-Magenis syndrome (SMS) are genomic disorders associated with deletion copy number variants involving chromosome 17p12 and 17p11.2, respectively. Nonallelic homologous recombination (NAHR)-mediated recurrent deletions are responsible for the majority of HNPP and SMS cases; the rearrangement products encompass the key dosage-sensitive genes PMP22 and RAI1, respectively, and result in haploinsufficiency for these genes. Less frequently, nonrecurrent genomic rearrangements occur at this locus...
October 2016: Human Genetics
Patra Yeetong, Thierry Vilboux, Carla Ciccone, Kristin Boulier, Rhonda E Schnur, William A Gahl, Marjan Huizing, Gonzalo Laje, Ann C M Smith
We report a 25-year-old female confirmed to have Smith-Magenis syndrome (SMS) due to a de novo RAI1 variant. Her past history is significant for developmental and intellectual delay, early and escalating maladaptive behaviors, and features consistent with significant sleep disturbance, the etiology of which was not confirmed for over two decades. The diagnosis of SMS was initially suspected in 1998 (at age 12 years), but that was 5 years before the initial report of RAI1 variants as causative of the SMS phenotype; cytogenetic fluorescence in situ hybridization studies failed to confirm an interstitial deletion of 17p11...
September 2016: American Journal of Medical Genetics. Part A
J C Han
Rare genetic disorders that cause BDNF haploinsufficiency, such as WAGR syndrome, 11p deletion, and 11p inversion, serve as models for understanding the role of BDNF in human energy balance and neurocognition. Patients with BDNF haploinsufficiency or inactivating mutations of the BDNF receptor exhibit hyperphagia, childhood-onset obesity, intellectual disability, and impaired nociception. Prader-Willi, Smith-Magenis, and ROHHAD syndromes are separate genetic disorders that do not directly affect the BDNF locus but share many similar clinical features with BDNF haploinsufficiency, and BDNF insufficiency is believed to possibly contribute to the pathophysiology of each of these conditions...
2016: Progress in Molecular Biology and Translational Science
Angelina Mageni Lutambi
HIV-infected patients who receive treatment survive for some years after they have acquired the disease. The received treatment causes sustained reduction of viral reproduction by improving the immune function, leading to prolonged progression period to AIDS development. This prolonged progression period has created variability in survival times that affects estimates produced using mathematical models that do not include delay in disease related mortality. This paper investigates the effect of including delay in AIDS death occurrence in HIV/AIDS transmission models...
2016: Journal of Biological Dynamics
Alexander Y Сhurbanov, Tatiana M Karafet, Igor V Morozov, Valeriia Yu Mikhalskaia, Marina V Zytsar, Alexander A Bondar, Olga L Posukh
Hearing loss (HL) is one of the most common sensorineural disorders and several dozen genes contribute to its pathogenesis. Establishing a genetic diagnosis of HL is of great importance for clinical evaluation of deaf patients and for estimating recurrence risks for their families. Efforts to identify genes responsible for HL have been challenged by high genetic heterogeneity and different ethnic-specific prevalence of inherited deafness. Here we present the utility of whole exome sequencing (WES) for identifying candidate causal variants for previously unexplained nonsyndromic HL of seven patients from four unrelated Altaian families (the Altai Republic, South Siberia)...
2016: PloS One
Dennis J Massue, Sarah J Moore, Zawadi D Mageni, Jason D Moore, John Bradley, Olivier Pigeon, Erasto J Maziba, Renata Mandike, Karen Kramer, William N Kisinza, Hans J Overgaard, Lena M Lorenz
BACKGROUND: Long-lasting insecticidal nets (LLINs) are the first line choice for malaria vector control in sub-Saharan Africa, with most countries adopting universal coverage campaigns. However, there is only limited information on LLIN durability under user conditions. Therefore, this study aimed to assess the durability of Olyset(®) LLINs distributed during campaigns between 2009 and 2011 in Tanzania. METHODS: A retrospective field survey was conducted in eight districts in Tanzania mainland to assess the durability of Olyset campaign nets...
2016: Malaria Journal
Lucy Wilde, Anna Mitchell, Chris Oliver
Social excesses, characterised by heightened social motivation, are important for describing social functioning. Smith-Magenis syndrome (SMS) is a potential exemplar of a disorder where heightened social motivation is associated with negative behavioural outcomes. In Down syndrome (DS) strong social motivation is described, but less commonly associated with behavioural problems. Children with SMS (n = 21) and DS (n = 19) were observed during social situations, in which familiarity of adults present and level of attention available were manipulated...
June 2016: Journal of Autism and Developmental Disorders
Victoria M Mwakalinga, Benn K D Sartorius, Yeromin P Mlacha, Daniel F Msellemu, Alex J Limwagu, Zawadi D Mageni, John M Paliga, Nicodem J Govella, Maureen Coetzee, Gerry F Killeen, Stefan Dongus
BACKGROUND: Malaria transmission, primarily mediated by Anopheles gambiae, persists in Dar es Salaam (DSM) despite high coverage with bed nets, mosquito-proofed housing and larviciding. New or improved vector control strategies are required to eliminate malaria from DSM, but these will only succeed if they are delivered to the minority of locations where residual transmission actually persists. Hotspots of spatially clustered locations with elevated malaria infection prevalence or vector densities were, therefore, mapped across the city in an attempt to provide a basis for targeting supplementary interventions...
March 1, 2016: Malaria Journal
Yousif Nijim, Amin Adawi, Bishara Bisharat, Abdalla Bowirrat
Smith-Magenis syndrome (SMS0) is a complex and rare genetic multisystem disorder characterized by a variable pattern of cognitive deficits accompanied by a1 distinctive behavioral phenotype. SMS is characterized by subtle facial dysmorphology, short stature, sleep disturbances, and neurobehavioral abnormalities. Little is known about the manifestation of his unique case among Arab population and its strategic treatment.This study comes to present a case of SMS in an Arab newborn male who was born in spontaneous delivery on June 29, 2015, with tachypnea, tracheomalacia, and mild hypotonia...
January 2016: Medicine (Baltimore)
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