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https://www.readbyqxmd.com/read/28550290/differential-methylation-is-associated-with-non-syndromic-cleft-lip-and-palate-and-contributes-to-penetrance-effects
#1
Lucas Alvizi, Xiayi Ke, Luciano Abreu Brito, Rimante Seselgyte, Gudrun E Moore, Philip Stanier, Maria Rita Passos-Bueno
Non-syndromic cleft lip and/or palate (NSCLP) is a common congenital malformation with a multifactorial model of inheritance. Although several at-risk alleles have been identified, they do not completely explain the high heritability. We postulate that epigenetic factors as DNA methylation might contribute to this missing heritability. Using a Methylome-wide association study in a Brazilian cohort (67 NSCLP, 59 controls), we found 578 methylation variable positions (MVPs) that were significantly associated with NSCLP...
May 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28549759/-smile-away-your-cravings-facial-feedback-modulates-cue-induced-food-cravings
#2
Jennifer Schmidt, Alexandra Martin
Food cravings are common experiences that precede dysfunctional eating behaviors, such as overeating and binge eating. These cravings are often related to negative affect, especially in emotional eaters. Recent studies have revived interest in a theory on the implicit modulation of affect: the facial feedback-hypothesis. This theory claims that mimic expressions influence affective experiences. Given the association between negative affect and food craving, facial feedback could provide a means to reduce or prevent food cravings...
May 23, 2017: Appetite
https://www.readbyqxmd.com/read/28549584/suture-compression-induced-midpalatal-suture-chondrocyte-apoptosis-with-increased-caspase-3-caspase-9-bad-bak-bax-and-bid-expression
#3
Tingting Lan, Hanchi Zhao, Bilu Xiang, Jun Wang, Yang Liu
OBJECTIVE: Previous studies found bone resorption and chondrocytes loss in mouse models of mid-palatal suture when given continuous compressive force, although chondrocytes response remained unknown. Herein, we design this study to determine how continuous compression force induces chondrocytes apoptosis. METHODS: Thirty C57BL/6 male mice (aged 6 weeks) were randomly assigned into controls (not ligated to a spring), blank controls (ligated with no compression) and the compression group (ligated with 20-g compression)...
May 23, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28548973/beneficial-effects-of-two-types-of-personal-health-record-services-connected-with-electronic-medical-records-within-the-hospital-setting
#4
Jisan Lee, James G Boram Kim, Meiling Jin, Kiwhan Ahn, Byungjun Kim, Sukwha Kim, Jeongeun Kim
Healthcare consumers must be able to make decisions based on accurate health information. To assist with this, we designed and developed an integrated system connected with electronic medical records in hospitals to ensure delivery of accurate health information. The system-called the Consumer-centered Open Personal Health Record platform-is composed of two services: a portal for users with any disease and a mobile application for users with cleft lip/palate. To assess the benefits of these services, we used a quasi-experimental, pretest-posttest design, assigning participants to the portal (n = 50) and application (n = 52) groups...
May 26, 2017: Computers, Informatics, Nursing: CIN
https://www.readbyqxmd.com/read/28548391/structural-and-functional-observations-of-the-p151l-mid1-mutation-reveal-alpha4-plays-a-significant-role-in-x-linked-opitz-syndrome
#5
Katharine M Wright, Haijuan Du, Michael A Massiah
Mutations of human MID1 are associated with X-linked Opitz G Syndrome (XLOS), which is characterized by midline birth defects. XLOS-observed mutations within the MID1 B-box1 domain are associated with cleft lip/palate, wide-spaced eyes and hyperspadias. Three of the four XLOS-observed mutations result in B-box1 unfolding but the structural and functional effects of the P151L mutation is not characterized. Here, we demonstrate that the P151L mutation does not disrupt the overall tertiary structure of the B-box1 domain and the adjacent domains...
May 26, 2017: FEBS Journal
https://www.readbyqxmd.com/read/28547776/anatomical-relationship-of-maxillary-posterior-teeth-with-the-sinus-floor-and-buccal-cortex
#6
J K Jang, S W Kwak, J H Ha, H C Kim
This study aimed to evaluate the possibility of root fenestration or oroantral communication by evaluating the distance from root apex to the sinus floor and buccal cortex in maxillary posterior teeth by using cone-beam computed tomography (CBCT) images. The study included 2,182 roots of the maxillary posterior teeth from 219 patients after reviewing CBCT images of 462 patients according to the location of roots by two endodontists. The distances from each root apex to the maxillary sinus floor and buccal and palatal cortices were evaluated according to sex and age, and the mean values were compared by one-way analysis of variance and Mann-Whitney U test...
May 26, 2017: Journal of Oral Rehabilitation
https://www.readbyqxmd.com/read/28547009/velopharyngeal-status-of-stop-consonants-and-vowels-produced-by-young-children-with-and-without-repaired-cleft-palate-at-12-14-and-18-months-of-age-a-preliminary-analysis
#7
Marziye Eshghi, Linda D Vallino, Adriane L Baylis, John S Preisser, David J Zajac
Purpose: The objective was to determine velopharyngeal (VP) status of stop consonants and vowels produced by young children with repaired cleft palate (CP) and typically developing (TD) children from 12 to 18 months of age. Method: Nasal ram pressure (NRP) was monitored in 9 children (5 boys, 4 girls) with repaired CP with or without cleft lip and 9 TD children (5 boys, 4 girls) at 12, 14, and 18 months of age. VP status was categorized as open or closed for oral stops and vowels in three contexts-consonant-vowel syllables, vowel-consonant-vowel syllables, and isolated vowels-on the basis of the presence or absence of positive nasal ram pressure...
May 24, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28546340/the-golgi-matrix-protein-giantin-is-required-for-normal-cilia-function-in-zebrafish
#8
Dylan J M Bergen, Nicola L Stevenson, Roderick E H Skinner, David J Stephens, Christina L Hammond
The Golgi is essential for glycosylation of newly synthesised proteins including almost all cell-surface and extracellular matrix proteoglycans. Giantin, encoded by the golgb1 gene, is a member of the golgin family of proteins that reside within the Golgi stack but its function remains elusive. Loss-of-function of giantin in rats causes osteochondrodysplasia; knockout mice show milder defects, notably a cleft palate. In vitro, giantin has been implicated in Golgi organisation, biosynthetic trafficking, and ciliogenesis...
May 25, 2017: Biology Open
https://www.readbyqxmd.com/read/28544699/renal-anomalies-and-lymphedema-distichiasis-syndrome-a-rare-association
#9
Gabriela E Jones, Anna K Richmond, Osric Navti, Hatem A Mousa, Stephen Abbs, Edward Thompson, Sahar Mansour, Pradeep C Vasudevan
Lymphedema distichiasis syndrome (LDS) is a rare, autosomal dominant genetic condition, characterized by lower limb lymphedema and distichiasis. Other associated features that have been reported include varicose veins, cleft palate, congenital heart defects, and ptosis. We update a previously reported family with a pathogenic variant in FOXC2 (c.412-413insT) where five affected individuals from the youngest generation had congenital renal anomalies detected on prenatal ultrasound scan. These included four fetuses with hydronephrosis and one with bilateral renal agenesis...
May 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544145/nut-carcinoma-presenting-in-the-palate-a-case-report
#10
Libana Raffoul Bjornstrup, Jesper Reibel, Katalin Kiss, Morten Schioedt
NUT carcinomas (NC) are rare and aggressive tumours characterized by chromosomal rearrangements of the gene encoding for nuclear protein of the testis (NUT) located on chromosome 15q14. This article presents a case of a 60-year-old woman diagnosed with NC presenting as a fast growing primary tumour in the right palate. Further evaluation revealed a tumour mass in the lungs and widespread metastases. A review of the literature did not reveal earlier cases presenting in the palate. In order to improve early diagnosis it is suggested to perform immunohistochemical testing for NUT in all poorly differentiated carcinomas without glandular differentiation arising in the chest, and head and neck (Clin Cancer Res, 18, 2012, 5773)...
May 25, 2017: APMIS: Acta Pathologica, Microbiologica, et Immunologica Scandinavica
https://www.readbyqxmd.com/read/28543621/morphological-characteristics-of-the-oropharyngeal-cavity-tongue-palate-and-laryngeal-entrance-in-the-eurasian-coot-fulica-atra-linnaeus-1758
#11
M M A Abumandour, N E R El-Bakary
The present study represents the first definitive anatomical description of the oropharyngeal cavity of the coot Fulica atra. For this purpose, the organs of six birds were prepared to examine grossly and by SEM and stereomicroscope. The oval lingual apex had multiple overlapping branched acicular processes on its anterior and lateral border. The lingual apex and body had multiple caudally directed filiform-like papillae. By stereomicroscopy, the lingual root had a characteristic appearance and consisted of four parts...
May 22, 2017: Anatomia, Histologia, Embryologia
https://www.readbyqxmd.com/read/28543373/acss2-gene-variant-associated-with-cleft-lip-and-palate-in-two-independent-hispanic-populations
#12
Sonam Dodhia, Katrina Celis, Alana Aylward, Yi Cai, Maria E Fontana, Alberto Trespalacios, David C Hoffman, Henry Ostos Alfonso, Sidney B Eisig, Gloria H Su, Wendy K Chung, Joseph Haddad
OBJECTIVES/HYPOTHESIS: A candidate variant (p.Val496Ala) of the ACSS2 gene (T > C missense, rs59088485 variant at chr20: bp37 33509608) was previously found to consistently segregate with nonsyndromic cleft lip and/or palate (NSCLP) in three Honduran families. Objectives of this study were 1) to investigate the frequency of this ACSS2 variant in Honduran unrelated NSCLP patients and unrelated unaffected controls and 2) to investigate the frequency of this variant in Colombian unrelated affected NSCLP patients and unrelated unaffected controls...
May 23, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28543034/changes-in-mineral-elements-and-starch-quality-of-grains-during-the-improvement-of-japonica-rice-cultivars
#13
Hao Zhang, Chao Yu, Danping Hou, Hailang Liu, Huiting Zhang, Rongrong Tao, Han Cai, Junfei Gu, Lijun Liu, Zujian Zhang, Zhiqin Wang, Jianchang Yang
BACKGROUND: The rice cultivars improvement plays an important role in yield increase. However, little is known about the changes in starch quality and mineral elements during the rice cultivars improvement. This study was conducted to investigate the japonica rice cultivars changes in starch quality and mineral elements. RESULTS: 12 typical rice cultivars, applied in the production in Jiangsu province during the last 60 years, were grown in the paddy fields. These cultivars were classified into six types according to their application times, plant types and genotypes...
May 25, 2017: Journal of the Science of Food and Agriculture
https://www.readbyqxmd.com/read/28542839/how-whales-used-to-filter-exceptionally-preserved-baleen-in-a-miocene-cetotheriid
#14
Felix G Marx, Alberto Collareta, Anna Gioncada, Klaas Post, Olivier Lambert, Elena Bonaccorsi, Mario Urbina, Giovanni Bianucci
Baleen is a comb-like structure that enables mysticete whales to bulk feed on vast quantities of small prey, and ultimately allowed them to become the largest animals on Earth. Because baleen rarely fossilises, extremely little is known about its evolution, structure and function outside the living families. Here we describe, for the first time, the exceptionally preserved baleen apparatus of an entirely extinct mysticete morphotype: the Late Miocene cetotheriid, Piscobalaena nana, from the Pisco Formation of Peru...
May 24, 2017: Journal of Anatomy
https://www.readbyqxmd.com/read/28541548/unidirectional-cross-resistance-in-german-cockroach-blattodea-blattellidae-populations-under-exposure-to-insecticidal-baits
#15
Dangsheng Liang, Jade McGill, Jose E Pietri
Insect pests, including the German cockroach, Blattella germanica (L.), are prone to the development of physiological resistance when exposed to a number of insecticide sprays, and cross-resistance is frequently observed. Toxic baits are often used as a primary method of controlling German cockroaches, also resulting in heavy selection pressure from insecticidal baits. In response to this pressure, cockroach populations have developed aversion to specific inert ingredients in bait. Here, we examined the effect of exposure to baits containing fipronil, indoxacarb, or hydramethylnon on the development of physiological resistance to the same and other insecticides in a number of German cockroach strains...
May 24, 2017: Journal of Economic Entomology
https://www.readbyqxmd.com/read/28540525/identification-of-22q11-2-deletion-syndrome-via-newborn-screening-for-severe-combined-immunodeficiency
#16
Jessica C Barry, Terrence Blaine Crowley, Soma Jyonouchi, Jennifer Heimall, Elaine H Zackai, Kathleen E Sullivan, Donna M McDonald-McGinn
PURPOSE: Chromosome 22q11.2 deletion syndrome (22q11.2DS), the most common cause of DiGeorge syndrome, is quite variable. Neonatal diagnosis traditionally relies on recognition of classic features and cytogenetic testing, but many patients come to attention only following identification of later onset conditions, such as hypernasal speech due to palatal insufficiency and developmental and behavioral differences including speech delay, autism, and learning disabilities that would benefit from early interventions...
May 24, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28538832/nasalance-scores-of-brazilian-portuguese-speakers-at-5-years-of-age
#17
Débora Natália de Oliveira, Ana Claudia Martins Sampaio-Teixeira, Bianca Gonçalves Alvarenga, Ana Paula Fukushiro, Renata Paciello Yamashita, Inge Elly Kiemle Trindade
Purpose: To determine nasalance scores of Brazilian Portuguese speaking children without evident speech disorders, language delay and orofacial deformities, at age 5 years, and analyze differences between types of speech samples and genders. Methods: Twenty children were analyzed, 11 males, age ranging from 4 years and 10 months to 5 years and 11 months. The Nasometer II 6450 (KayPENTAX) was used for nasalance assessment. Speech samples were eight consonant-vowel syllables and one sequence of nine words...
May 22, 2017: CoDAS
https://www.readbyqxmd.com/read/28538588/reply-not-all-clefts-are-created-equal-patterns-of-hospital-based-care-use-among-children-with-cleft-lip-and-palate-within-4-years-of-initial-surgery
#18
Cassandra A Ligh, Jesse A Taylor
No abstract text is available yet for this article.
June 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28538587/not-all-clefts-are-created-equal-patterns-of-hospital-based-care-use-among-children-with-cleft-lip-and-palate-within-4-years-of-initial-surgery
#19
Camille H A L Guillaume, Esmée van Drie, Corstiaan C Breugem
No abstract text is available yet for this article.
June 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28538580/what-s-new-in-cleft-palate-and-velopharyngeal-dysfunction-management
#20
Sanjay Naran, Matthew Ford, Joseph E Losee
LEARNING OBJECTIVES: After studying this article, the participant should be able to: 1. Have a clear understanding of the evolution of concepts of velopharyngeal dysfunction, especially as it relates to patients with a cleft palate. 2. Explain the subjective and objective evaluation of speech in children with velopharyngeal dysfunction. 3. On the basis of these diagnostic findings, be able to classify types of velopharyngeal dysfunction. 4. Develop a safe, evidence-based, patient-customized treatment plan for velopharyngeal dysfunction founded on objective considerations...
June 2017: Plastic and Reconstructive Surgery
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