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https://www.readbyqxmd.com/read/28817360/closing-the-gap-mouse-models-to-study-adhesion-in-secondary-palatogenesis
#1
K J Lough, K M Byrd, D C Spitzer, S E Williams
Secondary palatogenesis occurs when the bilateral palatal shelves (PS), arising from maxillary prominences, fuse at the midline, forming the hard and soft palate. This embryonic phenomenon involves a complex array of morphogenetic events that require coordinated proliferation, apoptosis, migration, and adhesion in the PS epithelia and underlying mesenchyme. When the delicate process of craniofacial morphogenesis is disrupted, the result is orofacial clefting, including cleft lip and cleft palate (CL/P). Through human genetic and animal studies, there are now hundreds of known genetic alternations associated with orofacial clefts; so, it is not surprising that CL/P is among the most common of all birth defects...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28817352/arhgap29-mutation-is-associated-with-abnormal-oral-epithelial-adhesions
#2
B J Paul, K Palmer, J C Sharp, C H Pratt, S A Murray, M Dunnwald
Nonsyndromic cleft lip and/or palate (NSCL/P) is a prevalent birth defect of complex etiology. Previous studies identified mutations in ARHGAP29 associated with an increased risk for NSCL/P. To investigate the effects of ARHGAP29 in vivo, we generated a novel murine allele by inserting a point mutation identified in a patient with NSCL/P. This single-nucleotide variation of ARHGAP29 translates to an early nonsense mutation (K326X), presumably resulting in loss-of-function (LoF). Embryos from Arhgap29(K326X/+) intercrosses were harvested at various time points...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28817240/prenatal-presentation-of-mabry-syndrome-with-congenital-diaphragmatic-hernia-and-phenotypic-overlap-with-fryns-syndrome
#3
Kara K Reynolds, Jane Juusola, Gregory M Rice, Philip F Giampietro
We report on a family in which initial features were compatible with Fryns syndrome. The first sibling was a stillborn female with a left diaphragmatic hernia (DH). Her clinical features overlapped with Fryns syndrome. The second pregnancy, a male fetus, was followed for polyhydramnios, hypoplastic mandible, mild enlargement of the fetal bladder, hydronephrosis, and rocker bottom foot deformities. He had facial features similar to his sibling and a large cleft of the secondary palate, small jaw, and secundum atrial septal defect...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28816718/double-composite-tissue-z-plasty-technique-for-anatomical-restoration-of-severe-nasal-deformity-in-secondary-unilateral-cleft-lip
#4
Jiao Wei, Tanja Herrler, Hua Xu, Qingfeng Li, Chuanchang Dai
BACKGROUND: Patients with secondary unilateral cleft lip are regularly affected by serious nasal deformities especially of the alar and nasal floor. A large number of techniques for correction have been published, but symmetrical restoration of severe nasal deformation is difficult to achieve. We propose an innovative approach for anatomical restoration for this entity of nasal deformities to achieve long-term symmetrical appearance and muscular function. METHODS: A total of 68 patients with severe nasal deformity due to secondary unilateral cleft lip underwent reconstructive surgery using a double composite tissue Z-plasty technique for anatomical restoration of cartilage, muscle, and soft tissue layers...
August 14, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28813183/quality-of-life-in-children-with-orofacial-clefts-and-caregiver-well-being
#5
L Sischo, M Wilson-Genderson, H L Broder
Quality of life is a valid patient-reported parameter that provides an assessment of treatment need or outcomes complementary to standard clinical measures. Such patient-reported assessments are particularly salient when examining chronic conditions with prolonged treatment trajectories, such as cleft lip and palate. This critical review identifies key questions related to ongoing research on the oral health-related quality of life (OHRQoL) in children with cleft and caregiver well-being. Details of the design and results from 2 longitudinal multicenter studies are presented...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28813171/anti-edar-agonist-antibody-therapy-resolves-palate-defects-in-pax9-mice
#6
S Jia, J Zhou, Y Wee, M L Mikkola, P Schneider, R N D'Souza
To date, surgical interventions are the only means by which craniofacial anomalies can be corrected so that function, esthetics, and the sense of well-being are restored in affected individuals. Unfortunately, for patients with cleft palate-one of the most common of congenital birth defects-treatment following surgery is prolonged over a lifetime and often involves multidisciplinary regimens. Hence, there is a need to understand the molecular pathways that control palatogenesis and to translate such information for the development of noninvasive therapies that can either prevent or correct cleft palates in humans...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28811590/structural-analysis-of-wss1-protein-from-saccharomyces-cerevisiae
#7
Xiaoyun Yang, Yanhua Li, Zengqiang Gao, Zongqiang Li, Jianhua Xu, Wenjia Wang, Yuhui Dong
Wss1 is a DNA-protein crosslinks (DPCs) repair protein, which is responsible for degradation of the protein components in DPCs. In this investigation, crystal structure of the protease domain from saccharomyces cerevisiae Wss1 (ScWss1) was solved and was compared with the known crystal structure of Schizosaccharomyces prombe Wss1 (SpWss1). It is found that the cleft near zinc ion to be the most conserved core region of Wss1 and that the electronic surface distributions vary greatly between the two homologs...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28811070/evaluation-of-sequence-variability-in-hiv-1-gp41-c-peptide-helix-grafted-proteins
#8
Rachel L Tennyson, Susanne N Walker, Terumasa Ikeda, Reuben S Harris, Brian R McNaughton
Many therapeutically-relevant protein-protein interactions (PPIs) have been reported that feature a helix and helix-binding cleft at the interface. Given this, different approaches to disrupting such PPIs have been developed. While short peptides (<15 amino acids) typically do not fold into a stable helix, researchers have reported chemical approaches to constraining helix structure. However, these approaches rely on laborious, and often expensive, chemical synthesis and purification. Our premise is that protein-based solutions that stabilize a therapeutically-relevant helix offer a number of advantages...
August 1, 2017: Bioorganic & Medicinal Chemistry
https://www.readbyqxmd.com/read/28810649/effect-of-dexmedetomidine-combined-with-sufentanil-on-preventing-emergence-agitation-in-children-receiving-sevoflurane-anesthesia-for-cleft-palate-repair-surgery
#9
Ke Luo, Jun-Mei Xu, Lin Cao, Ju Gao
The aim of the present study was to observe whether dexmedetomidine (DEX) combined with sufentanil decreased emergence agitation (EA) in children receiving sevoflurane anesthesia for cleft palate repair surgery. Children undergoing elective cleft palate repair surgery were randomly allocated into the DEX + sufentanil group (group DS; n=50) and the normal saline + fentanyl group (group SF; n=50). Patients in group DS were treated with 0.5 µg/kg DEX prior to induction of anesthesia, whereas patients in group SF received an equal volume of normal saline...
August 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28809991/treatment-of-inverse-intertriginous-psoriasis-updated-guidelines-from-the-medical-board-of-the-national-psoriasis-foundation
#10
Hasan Khosravi, Michael P Siegel, Abby S Van Voorhees, Joseph F Merola
<p>Inverse or intertriginous psoriasis commonly involves skin fold areas including the axillae, perianal skin, intergluteal cleft, inframammary, genital/inguinal, abdominal, and retroauricular folds. After reviewing the literature for new treatments, a task force was convened to update a consensus on inverse psoriasis therapy. Short-term treatment continues to be low-potency topical steroids. In order to avoid steroid-induced adverse effects, long-term therapy includes topical immunomodulators, calcitriol, and calcipotriene...
August 1, 2017: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/28809106/structural-characteristics-and-function-of-a-new-kind-of-thermostable-trehalose-synthase-from-thermobaculum-terrenum
#11
Junqing Wang, Xudong Ren, Ruiming Wang, Jing Su, Feng Wang
Trehalose has important applications in the food industry and pharmaceutical manufacturing. The thermostable enzyme trehalose synthase from Thermobaculum terrenum (TtTS) catalyzes the reversible interconversion of maltose and trehalose. Here, we investigated the structural characteristics of TtTS in complex with the inhibitor TriS. TtTS exhibits the typical three domain glycoside hydrolase family 13 structure. The catalytic cleft consists of Asp202-Glu244-Asp310 and various conserved substrate-binding residues...
August 15, 2017: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/28808036/reducing-posttreatment-relapse-in-cleft-lip-palatal-expansion-using-an-injectable-estrogen-nanodiamond-hydrogel
#12
Christine Hong, Dayoung Song, Dong-Keun Lee, Lawrence Lin, Hsin Chuan Pan, Deborah Lee, Peng Deng, Zhenqing Liu, Danny Hadaya, Hye-Lim Lee, Abdulaziz Mohammad, Xinli Zhang, Min Lee, Cun-Yu Wang, Dean Ho
Patients with cleft lip and/or palate (CLP), who undergo numerous medical interventions from infancy, can suffer from lifelong debilitation caused by underdeveloped maxillae. Conventional treatment approaches use maxillary expansion techniques to develop normal speech, achieve functional occlusion for nutrition intake, and improve esthetics. However, as patients with CLP congenitally lack bone in the cleft site with diminished capacity for bone formation in the expanded palate, more than 80% of the patient population experiences significant postexpansion relapse...
August 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28807901/differing-contributions-of-the-first-and-second-pharyngeal-arches-to-tympanic-membrane-formation-in-the-mouse-and-chick
#13
Toshiko Furutera, Masaki Takechi, Taro Kitazawa, Junko Takei, Takahiko Yamada, Tri Vu Hoang, Filippo M Rijli, Hiroki Kurihara, Shigeru Kuratani, Sachiko Iseki
We have proposed that independent origins of the tympanic membrane (TM), consisting of the external auditory meatus (EAM) and first pharyngeal pouch, are linked with distinctive middle ear structures in terms of dorsal-ventral patterning of the pharyngeal arches during amniote evolution. However, previous studies have suggested that the first pharyngeal arch (PA1) is crucial for TM formation in both the mouse and chick. In this study, we compare TM formation along the anterior-posterior axis in these animals using Hoxa2 expression as a marker of the second pharyngeal arch (PA2)...
August 14, 2017: Development
https://www.readbyqxmd.com/read/28807154/total-internal-reflectance-fluorescence-imaging-of-genetically-engineered-ryanodine-receptor-targeted-ca-2-probes-in-rat-ventricular-myocytes
#14
Sara Pahlavan, Marin Morad
The details of cardiac Ca(2+) signaling within the dyadic junction remain unclear because of limitations in rapid spatial imaging techniques, and availability of Ca(2+) probes localized to dyadic junctions. To critically monitor ryanodine receptors' (RyR2) Ca(2+) nano-domains, we combined the use of genetically engineered RyR2-targeted pericam probes, (FKBP-YCaMP, Kd=150nM, or FKBP-GCaMP6, Kd=240nM) with rapid total internal reflectance fluorescence (TIRF) microscopy (resolution, ∼80nm). The punctate z-line patterns of FKBP,(2)-targeted probes overlapped those of RyR2 antibodies and sharply contrasted to the images of probes targeted to sarcoplasmic reticulum (SERCA2a/PLB), or cytosolic Fluo-4 images...
September 2017: Cell Calcium
https://www.readbyqxmd.com/read/28806380/formation-of-the-philtral-column-using-a-dermal-graft-in-secondary-unilateral-cleft-lip
#15
Jeenam Kim, Jongok Park, Ki-Il Uhm, Donghyeok Shin, Hyungon Choi
INTRODUCTION: The philtral column has an important aesthetic significance and is especially important in patients with cleft lip. If the integrity of the philtrum cannot be preserved in patients of unilateral clefts, these patients will have profound abnormalities in their facial musculature. The purpose of this study was to analyze the effects of dermal grafting on the philtral column in patients with a unilateral alveolar cleft. METHODS: The authors retrospectively studied dermal grafts performed in Konkuk University Medical Center between January 2009 and January 2015...
August 10, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28806379/evaluation-of-protraction-face-mask-therapy-on-the-craniofacial-and-upper-airway-morphology-in-unilateral-cleft-lip-and-palate
#16
Defne Keçik
INTRODUCTION: The aim of the authors' study was to evaluate the effects of protraction face-mask therapy on the craniofacial and upper airway morphology in patients with unilateral cleft lip and palate (UCLP). METHODS: Twenty-three growing UCLP patients (mean age: 8.3 + 2.4) were enrolled in the study group. Protraction face-mask in combination with Hyrax appliance was applied for the correction of anterior crossbite and maxillary insufficiency. Twenty-six patients with maxillary retrusion (mean age: 8...
August 10, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28804913/on-bh3-mimetics-and-ca-2-signaling
#17
Pawel E Ferdek, Monika A Jakubowska
Preclinical Research BH3 mimetics are anticancer agents that reproduce the spatial arrangement of the BH3 domain of Bcl-2 family proteins. Just like the BH3-only proteins, these compounds bind to the hydrophobic cleft of the pro-survival Bcl-2 members such as Bcl-2 or Bcl-xL, and disrupt their heterodimerization with pro-apoptotic Bax or Bak, sensitizing cells to chemotherapy. In recent years, it has become clear that Bcl-2 family proteins are engaged in regulation of intracellular Ca(2+) homeostasis, including Ca(2+) release from the intracellular stores as well as Ca(2+) fluxes across the plasma membrane...
August 13, 2017: Drug Development Research
https://www.readbyqxmd.com/read/28803895/periderm-life-cycle-and-function-during-orofacial-and-epidermal-development
#18
REVIEW
Nigel L Hammond, Jill Dixon, Michael J Dixon
Development of the secondary palate involves a complex series of embryonic events which, if disrupted, result in the common congenital anomaly cleft palate. The secondary palate forms from paired palatal shelves which grow initially vertically before elevating to a horizontal position above the tongue and fusing together in the midline via the medial edge epithelia. As the epithelia of the vertical palatal shelves are in contact with the mandibular and lingual epithelia, pathological fusions between the palate and the mandible and/or the tongue must be prevented...
August 10, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28802394/assessment-of-complete-unilateral-cleft-lip-and-palate-treatment-outcome-using-eurocran-index-and-associated-factors
#19
Anas Imran Arshad, Mohammad Khursheed Alam, Mohd Fadhli Khamis
OBJECTIVES: Assessment of treatment outcome is the only non-invasive approach to identify the effects of cleft lip and palate repair and modify management accordingly. Here the aim is to assess the outcome of complete unilateral cleft lip and palate (CUCLP) patients using EUROCRAN index and to check whether there are any factors associated with the treatment outcome. MATERIALS AND METHODS: It is a retrospective cross sectional study. Dental models were collected from archives of two cleft referral centers in Pakistan...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28802381/diagnosing-subtle-palatal-anomalies-validation-of-video-analysis-and-assessment-protocol-for-diagnosing-occult-submucous-cleft-palate
#20
Ryan Rourke, Seth M Weinberg, Mary L Marazita, Noel Jabbour
INTRODUCTION: Submucous cleft palate (SMCP) classically involves bifid uvula, zona pellucida, and notched hard palate. However, patients may present with more subtle anatomic abnormalities. The ability to detect these abnormalities is important for surgeons managing velopharyngeal dysfunction (VPD) or considering adenoidectomy. OBJECTIVES: Validate an assessment protocol for diagnosis of occult submucous cleft palate (OSMCP) and identify physical examination features present in patients with OSMCP in the relaxed and activated palate positions...
September 2017: International Journal of Pediatric Otorhinolaryngology
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