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Downs syndrome

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https://www.readbyqxmd.com/read/28926419/peduncular-hallucinosis-and-autonomic-dysfunction-in-anti-aquaporin-4-antibody-syndrome
#1
Renee Berry, Peter K Panegyres
Neuromyelitis optica is a rare, severe inflammatory demyelinating disease of the central nervous system, previously described as affecting only the optic nerve and spinal cord. Since the discovery of a highly specific autoantibody, anti-aquaporin-4, lesions are now recognized outside these regions. We report a man with severe, debilitating symptoms resulting from a symptomatic lesion within the diencephalon, manifesting with abnormal circadian rhythms, autonomic dysfunction, behavioral disturbance, and complex visual hallucinations...
September 2017: Cognitive and Behavioral Neurology: Official Journal of the Society for Behavioral and Cognitive Neurology
https://www.readbyqxmd.com/read/28921818/blinatumomab-activity-in-a-patient-with-down-syndrome-b-precursor-acute-lymphoblastic-leukemia
#2
Aman Wadhwa, Matthew A Kutny, Ana C Xavier
Persistent minimal residual disease (MRD) after consolidation may indicate chemotherapy insensitivity in B-precursor acute lymphoblastic leukemia (BP-ALL). Given the strong association of MRD and outcome in non-Down syndrome (non-DS) BP-ALL, it is likely that MRD levels are also of prognostic significance in DS BP-ALL. We report here the successful use of blinatumomab, a bispecific T-cell engager antibody construct, in a patient with DS BP-ALL and persistent MRD at the end of consolidation. Blinatumomab has been shown to have excellent results in patients with relapsed/refractory BP-ALL...
September 17, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28921586/down-syndrome-maternal-serum-markers-in-oocyte-donation-and-other-assisted-reproductive-technologies
#3
Aurore Bonnin, Françoise Muller, Marie-Victoire Senat, Corinne Sault, Armelle Galland, Joëlle Taieb, Sophie Dreux, Jean Bouyer, Alexandra Benachi
OBJECTIVE: Because maternal serum markers (PAPP-A, hCGβ, and AFP) used for Down syndrome (DS) screening have been described as predictors of obstetrical complications and because assisted reproductive technology (ART) pregnancies are known to be at increased risk for obstetrical complications, it is unclear whether or not correction factors should be applied to the calculated risk of DS. The purpose of this study was to evaluate DS maternal serum markers in oocyte donation (OD) and ART pregnancies in comparison with natural pregnancies...
September 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28921168/chromosomal-abnormalities-affect-the-surgical-outcome-in-infants-with-hypoplastic-left-heart-syndrome-a-large-cohort-analysis
#4
Dala Zakaria, Xinyu Tang, Rupal Bhakta, Nahed O ElHassan, Parthak Prodhan
Patients with hypoplastic left heart syndrome (HLHS) can have associated genetic abnormalities. This study evaluated the incidence of genetic abnormalities among infants with HLHS and the short-term outcomes of this population during the first hospitalization. This is a retrospective analysis of the multi-center Pediatric Heath Information System database of infants with HLHS who underwent Stage I Norwood, Hybrid, or heart transplant during their first hospitalization from 2004 through 2013. We compared clinical data between infants with and without genetic abnormality, among the three most common chromosomal abnormalities, and between survivors and non-survivors...
September 18, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28919875/psychological-support-for-young-adults-with-down-syndrome-dohsa-hou-program-for-maladaptive-behaviors-and-internalizing-problems
#5
Haruo Fujino
Psychological and psychiatric dysfunction is a major problem in a substantial proportion of young adults with Down syndrome. Some patients develop psychiatric issues, such as depressive, obsessive-compulsive, or psychotic-like disorders, in their late adolescence or young adulthood. Furthermore, these individuals may experience moderate to severe emotional and psychological distress. Development of a psychosocial treatment to address these issues is needed in addition to psychotropic medication. The current study reports two cases of young adults with Down syndrome, who presented psychiatric symptoms and marked disruption in their daily lives...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28919490/alcohol-exposure-induces-chick-craniofacial-bone-defects-by-negatively-affecting-cranial-neural-crest-development
#6
Ping Zhang, Guang Wang, Zhuangling Lin, Yushi Wu, Jing Zhang, Meng Liu, Kenneth Ka Ho Lee, Manli Chuai, Xuesong Yang
Excess alcohol consumption during pregnancy could lead to fetal alcohol syndrome (FAS). However, the molecular mechanism leading to craniofacial abnormality, a feature of FAS, is still poorly understood. The cranial neural crest cells (NCCs) contribute to the formation of the craniofacial bones. Therefore, NCCs exposed to ethanol was investigated - using chick embryos and in vitro explant culture as experimental models. We demonstrated that exposure to 2% ethanol induced craniofacial defects, which includes parietal defect, in the developing chick fetus...
September 14, 2017: Toxicology Letters
https://www.readbyqxmd.com/read/28919319/a-population-based-description-of-familial-clustering-of-hirschsprung-s-disease
#7
Craig C Teerlink, Ryan Bernhisel, Lisa A Cannon-Albright, Michael D Rollins
BACKGROUND: Familial recurrence of Hirschsprung's disease (HSCR) is well documented, and risk estimates for relatives have been reported from various populations. We describe the familial clustering of HSCR cases using well-established unbiased familial aggregation techniques within the context of a population genealogy. METHODS: Patients included 264 HSCR cases identified using ICD-9 diagnosis coding from the two largest healthcare providers in Utah who also had linked genealogy data...
September 1, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28919233/craniospinal-germinomas-in-a-patient-with-down-syndrome-successfully-treated-with-standard-dose-chemotherapy-and-craniospinal-irradiation-a-case-report-and-literature-review
#8
Yohei Miyake, Jun-Ichi Adachi, Tomonari Suzuki, Kazuhiko Mishima, Atsushi Sasaki, Ryo Nishikawa
BACKGROUND: Patients with Down syndrome (DS) are more likely to develop chemotherapy-related complications. The standard treatment for these patients with cancers has not yet been established, and the risks of standard chemotherapy are unclear. In this paper, a rare case of multiple craniospinal germinomas in a patient with DS, which was successfully treated with standard-dose chemotherapy combined with craniospinal irradiation is reported. CASE DESCRIPTION: The authors report a case of multiple craniospinal germinomas in a DS patient who presented with bilateral oculomotor and facial nerve palsy and hearing loss...
September 12, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28918528/signaling-of-the-complement-cleavage-product-anaphylatoxin-c5a-through-c5ar-cd88-contributes-to-pharmacological-hematopoietic-stem-cell-mobilization
#9
Kamila Bujko, Sylwia Rzeszotek, Kai Hoehlig, Jun Yan, Axel Vater, Mariusz Z Ratajczak
Several mechanisms have been postulated for orchestrating the mobilization of hematopoietic stem/progenitor cells (HSPCs), and we previously proposed that activation of the complement cascade plays a crucial role in the initiation and execution of the egress of HSPCs from bone marrow (BM) into peripheral blood (PB). In support of this notion, we demonstrated that mice deficient in the mannan-binding lectin (MBL) pathway, which activates the proximal part of the complement cascade, as well as mice deficient in the fifth component of the complement cascade (C5), which is part of the distal part of the complement cascade, are poor mobilizers...
September 16, 2017: Stem Cell Reviews
https://www.readbyqxmd.com/read/28917482/papular-eruption-in-a-woman-with-down-syndrome
#10
Delila Pouldar, Melissa Shive, Sarah N Gee
No abstract text is available yet for this article.
October 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28915135/otolaryngologic-management-of-down-syndrome-patients-what-is-new
#11
Ethan C Bassett, Mary F Musso
PURPOSE OF REVIEW: The management of children with Down syndrome as it pertains to the otolaryngologist continues to evolve. Obstructive sleep apnea (OSA) has dominated the recent literature, but other topics including hearing loss, swallowing, and perioperative considerations are also reported. RECENT FINDINGS: The prevalence of OSA in children with Down syndrome ranges from 57 to 73% in certain cohorts, and, whereas adentonsillectomy can decrease Apnea-Hypopnea Index, up to 80% may have persistent OSA...
September 14, 2017: Current Opinion in Otolaryngology & Head and Neck Surgery
https://www.readbyqxmd.com/read/28912835/a-unique-set-of-complex-chromosomal-abnormalities-in-an-infant-with-myeloid-leukemia-associated-with-down-syndrome
#12
Daiane Correa de Souza, Amanda Faria de Figueiredo, Daniela R Ney Garcia, Elaine Sobral da Costa, Moneeb A K Othman, Thomas Liehr, Eliana Abdelhay, Maria Luiza Macedo Silva, Teresa de Souza Fernandez
BACKGROUND: Children with Down syndrome (DS) have an enhanced risk of developing acute leukemia, with the most common subtype being acute megakaryoblastic leukemia (AMKL). Myeloid leukemia in Down syndrome (ML-DS) is considered a disease with distinct clinical and biological features. There are few studies focusing on the clonal cytogenetic changes during evolution of ML-DS. CASE PRESENTATION: Here, we describe a complex karyotype involving a previously unreported set of chromosomal abnormalities acquired during progression of ML-DS in an infant boy: derivative der(1)t(1;15)(q24;q23), translocation t(4;5)(q26;q33) and derivative der(15)t(7;15)(p21;q23)...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28911278/measurement-of-sedentary-behaviors-or-downtime-in-rett-syndrome
#13
Michelle Stahlhut, Kylie Hill, Anne-Marie Bisgaard, Anne Kjersgaard Jensen, Michaela Andersen, Helen Leonard, Jenny Downs
This study aimed to validate measures of sedentary time in individuals with Rett syndrome. Twenty-six individuals (median [IQR] age 16.0 (9.4-20.6) years) wore an activPAL accelerometer during video-taped activities and agreement was determined between sedentary time determined by the activPAL and observation. For 11 individuals (median [IQR] age 14.5 (11.5-25.6) years), linear regression was used to determine the relationship between sedentary time recorded on the modified Bouchard activity record diary card and measured using the activPAL...
October 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28905502/prevalence-trends-of-selected-major-birth-defects-a-multi-state-population-based-retrospective-study-united-states-1999-to-2007
#14
Amanda M St Louis, Keewan Kim, Marilyn L Browne, Gang Liu, Rebecca F Liberman, Wendy N Nembhard, Mark A Canfield, Glenn Copeland, Jane Fornoff, Russell S Kirby
BACKGROUND: We evaluated selected birth defects over a 9-year period to assess prevalence trends by selected maternal and infant factors. METHODS: Data were pooled from 11 population-based birth defects surveillance programs in the United States for children born between 1999 and 2007. Overall prevalence, as well as 3-year interval prevalence, was calculated for 26 specific birth defects, stratified by maternal age, maternal race/ethnicity, and infant sex. Average annual percent change (AAPC) was calculated for each birth defect...
September 14, 2017: Birth defects research
https://www.readbyqxmd.com/read/28904967/foot-structure-in-boys-with-down-syndrome
#15
Ewa Puszczałowska-Lizis, Krzysztof Nowak, Jarosław Omorczyk, Tadeusz Ambroży, Przemysław Bujas, Leszek Nosiadek
INTRODUCTION AND AIM: Down syndrome (DS) is associated with numerous developmental abnormalities, some of which cause dysfunctions of the posture and the locomotor system. The analysis of selected features of the foot structure in boys with DS versus their peers without developmental disorders is done. MATERIALS AND METHODS: The podoscopic examination was performed on 30 boys with DS aged 14-15 years. A control group consisted of 30 age- and gender-matched peers without DS...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28904504/role-of-serpine-gene-polymorphism-in-recurrent-implantation-failure-and-preeclampsia
#16
Nidhi Sharma, Jayashree K Srinivasan, Margeret Harriet Priya, Venkatachalam Sibiya
This is a rare case of serpine gene polymorphism causing thrombophilia and recurrent implantation failure following intrauterine insemination. SERPINE1 gene encodes plasminogen activator inhibitor type 1 and inhibits fibrinolysis, or clot dissolution. The 4G variant results in increased expression of SERPINE1 and consequently higher inhibition of fibrinolysis, thus leading to thrombophilia. The patient had unexplained primary infertility for 9 years. Ovulation induction was done with gonadotropin releasing hormone (GnRH) agonist long protocol...
April 2017: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/28904256/current-surgical-outcomes-of-congenital-heart-surgery-for-patients-with-down-syndrome-in-japan
#17
Takaya Hoashi, Norimichi Hirahara, Arata Murakami, Yasutaka Hirata, Hajime Ichikawa, Junjiro Kobayashi, Shinichi Takamoto
BACKGROUND: Current surgical outcomes of congenital heart surgery for patients with Down syndrome are unclear.Methods and Results:Of 29,087 operations between 2008 and 2012 registered in the Japan Congenital Cardiovascular Surgery Database (JCCVSD), 2,651 were carried out for patients with Down syndrome (9%). Of those, 5 major biventricular repair procedures [ventricular septal defect repair (n=752), atrioventricular septal defect repair (n=452), patent ductus arteriosus closure (n=184), atrial septal defect repair (n=167), tetralogy of Fallot (TOF) repair (n=108)], as well as 2 major single ventricular palliations [bidirectional Glenn (n=21) and Fontan operation (n=25)] were selected and their outcomes were compared...
September 12, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28903458/epidermal-growth-factor-receptor-mutant-lung-cancer-in-down-syndrome-a-case-presentation-and-review-of-the-literature
#18
Xin Li, Shijiang Xing, Qiumei Dong
BACKGROUND: Solid tumors have a markedly decreased incidence in individuals with Down syndrome (DS), including lung cancers. METHODS: The clinical presentation of epidermal growth factor receptor (EGFR)-mutant non-small-cell lung cancer (NSCLC) in DS was reported and literature on the subject reviewed. RESULTS: In individuals with DS, the risk of lung cancer appears markedly lower. EGFR mutation and EGFR tyrosine kinase inhibitors (EGFR-TKIs) resistance also exist in DS with lung cancer...
August 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28902628/physical-activity-and-bone-mineral-density-at-the-femoral-neck-subregions-in-adolescents-with-down-syndrome
#19
Ángel Matute-Llorente, Alejandro González-Agüero, Germán Vicente-Rodríguez, Luís B Sardinha, Fátima Baptista, José A Casajús
BACKGROUND: Low bone mineral density (BMD) has been frequently described in subjects with Down syndrome (DS). Reduced physical activity (PA) levels may contribute to low BMD in this population. The objective of the study was to investigate whether PA levels were related to the femoral neck bone mass distribution in a sample of 14 males and 12 females with DS aged 12-18 years. METHODS: BMD was evaluated by dual energy X-ray absorptiometry (DXA) at the integral, superolateral and inferomedial femoral neck regions and PA levels were assessed by accelerometry...
September 13, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28900314/evaluation-of-metabolic-syndrome-and-related-factors-in-children-affected-by-acute-lymphoblastic-leukemia
#20
Soheila Zareifar, Sezaneh Haghpanah, Eslam Shorafa, Nader Shakibazad, Zohreh Karamizadeh
INTRODUCTION: Obesity is among the medical problems in survivors of childhood acute lymphoblastic leukemia (ALL). These patients are at risk of metabolic syndrome (MS). The present study aimed to follow the patients with ALL regarding the incidence of MS. PATIENTS AND METHODS: This study was conducted on all patients who referred to the oncology clinic from July 2012 to July 2013. The exclusion criteria of the study were ALL relapse, secondary malignancy, hypothyroidism, Down syndrome, and below 2 years of age...
April 2017: Indian Journal of Medical and Paediatric Oncology
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