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cleft li

Guomin Li, Qian Shen, Li Sun, Haimei Liu, Yu An, Hong Xu
Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder characterized by branchial cleft fistulae or cysts, preauricular pits, ear malformations, hearing loss, and renal anomalies. Mutations in the human homologue of the Drosophila eyes absent gene ( EYA1 ) are the most common cause of BOR syndrome. PCR and direct sequencing were used to investigate all of the exons and exon-intron boundaries in the EYA1 gene in a patient with BOR syndrome from China. The patient was a child who displayed clinical features of BOR syndrome...
February 2018: Intractable & Rare Diseases Research
Mireguli Tuersunjiang, Xing Long, Yuchuan Fu, Jin Ke, He Huijun, Jian Li
Bifid nose, an indicator of Tessier No.0, is a rare congenital malformation. Because of its rarity, few cases were reported and the optimal surgical procedure and the best time for surgery have not been widely acknowledged. In this brief report, a 9-year-old girl with mild bifid nose and unilateral mini-microform cleft lip, and its surgical management, is presented. We focused our attention on modifying the shape of the nose through open rhinoplasty without excising the surplus skin on the nasal dorsum and achieved good results...
March 14, 2018: Journal of Craniofacial Surgery
H Y Deng, X R Wang, M Yue, L L Zhang, F Li, X L Wang, Y P Liu
Objective: To investigate the effect of extensive retraction clefts (RC, >20% of tumor volume) on prognosis in invasive breast carcinoma of no specific type (IBC-NST). Methods: A total of 2 184 cases of IBC-NST diagnosed at the Fourth Hospital of Hebei Medical University from January 2006 to December 2008 were collected. All the cases were diagnosed according to the latest guideline and standard. After excluding cases of shrinkage due to tissue fixation, 483 cases with RC were identified, and the clinical and pathological features were retrospectively analyzed...
March 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
Liang Xie, Ying Deng, Yumei Yuan, Xiong Tan, Lijun Liu, Nana Li, Changfei Deng, Hanmin Liu, Li Dai
BACKGROUND: The genetic factors causing cleft lip with or without cleft palate (CL ± P) are still unclear. The SNPs in FOXE1 gene were associated with CL ± P. However, the results have been inconsistent. OBJECTIVE: We explored the associations of four SNPs in FOXE1 gene and CL ± P by a family based study. MATERIALS AND METHODS: 128 children with CL ± P and their parents were recruited. rs3758249 and rs1867277 were genotyped by high-resolution melting curve (HRM) method, whereas rs1443434 and rs907577 were genotyped by Sequenom MassARRAY® method...
March 6, 2018: Fetal and Pediatric Pathology
Jing Wang, Chun-Lin Li, Lu-Lu Bai, Qiang-Hu Tang, Rui-Yuan Zhang, Ting-Li Han, Yu-Ming Guo, Philip N Baker, Yin-Yin Xia, Bai-Jie Tu
OBJECTIVE: To analyze the changes in endogenous small molecule metabolites after benzo[a]pyrene (B[a]P) exposure in rat cerebral cortex and explore the mechanism of B[a]P neurotoxicity. METHODS: Five-day-old SD rats were subjected to gavage administration of 2 mg/kg B[a]P for 7 consecutive weeks. After the exposure, the rats were assessed for spatial learning ability using Morris water maze test, ultrastructural changes of the cortical neurons under electron microscope, and metabolite profiles of the cortex using GC/MS...
February 20, 2018: Nan Fang Yi Ke da Xue Xue Bao, Journal of Southern Medical University
Yongchu Pan, Dandan Li, Shu Lou, Chi Zhang, Yifei Du, Hongbing Jiang, Weibing Zhang, Lan Ma, Lin Wang
microRNAs (miRNAs) are widely involved in craniofacial development, and genetic variants of miRNAs may be associated with the risk of non-syndromic orofacial cleft (NSOC). Here, we systematically selected five single nucleotide polymorphisms (SNPs) of miRNAs and investigated the associations between these variants and NSOC susceptibility in a two-stage case-control study including 1,406 NSOC patients and 1,578 controls from the Chinese population. We found that compared with the C allele, the rs2910164 G allele of pre-miR-146a was associated with an increased risk of NSOC (additive model: odds ratio (OR) = 1...
February 27, 2018: Human Mutation
Mengying Wang, Ruogu Meng, Zhuqing Wang, Dongjing Liu, Hui Huang, Chuyun Kang, Hongtian Li, Tao Wu, Siyan Zhan
Background: Oral clefts (OCs) are common human birth defects. Children with OCs in underdeveloped regions are more likely to suffer from poverty and hardship in their future lives. Here, we attempted to estimate the prevalence of OCs among live births in Gansu Province in 2008 to understand the epidemiologic pattern of the disease. Methods: A cross-sectional study was conducted from January 2008 to December 2008 in Gansu Province. The live births delivered between January and December 2008 with OCs were investigated through face-to-face questionnaire survey...
February 23, 2018: International Journal of Environmental Research and Public Health
Guihong Li, Chaochao Zhang, Yuxue Sun, Qingchun Mu, Haiyan Huang
Xanthogranuloma, also referred to as cholesterol granuloma or xanthogranulomatous reaction, is a granulomatous lesion that is infrequently found in the sellar and parasellar regions. Xanthogranulomatous pituitary adenoma is relatively rare and, thus, the etiology, diagnosis, management and prognosis of this condition remain incompletely understood. We herein report the case of a 56-year-old female patient who presented to our institution with intermittent headache, vomiting and distending pain in the bilateral orbital regions...
March 2018: Molecular and Clinical Oncology
Hailey Pinz, Louise C Pyle, Dong Li, Kosuke Izumi, Cara Skraban, Jennifer Tarpinian, Stephen R Braddock, Aida Telegrafi, Kristin G Monaghan, Elaine Zackai, Elizabeth J Bhoj
Myelin Regulatory Factor (MYRF) is a transcription factor that has previously been associated with the control of the expression of myelin-related genes. However, it is highly expressed in human tissues and mouse embryonic tissues outside the nervous system such as the stomach, lung, and small intestine. It has not previously been reported as a cause of any Mendelian disease. We report here two males with Scimitar syndrome [MIM 106700], and other features including penoscrotal hypospadias, cryptorchidism, pulmonary hypoplasia, tracheal anomalies, congenital diaphragmatic hernia, cleft spleen, thymic involution, and thyroid fibrosis...
February 15, 2018: American Journal of Medical Genetics. Part A
Marta Losa, Maurizio Risolino, Bingsi Li, James Hart, Laura Quintana, Irina Grishina, Hui Yang, Irene F Choi, Patrick Lewicki, Sameer Khan, Robert Aho, Jennifer Feenstra, C Theresa Vincent, Anthony M C Brown, Elisabetta Ferretti, Trevor Williams, Licia Selleri
Human cleft lip with or without cleft palate (CL/P) is a common craniofacial abnormality caused by impaired fusion of the facial prominences. We have previously reported that in the mouse embryo epithelial apoptosis mediates fusion at the seam where the prominences coalesce. Here, we show that apoptosis alone is not sufficient to remove the epithelial layers. We observed morphological changes in the seam epithelia, intermingling of cells of epithelial descent into the mesenchyme, and molecular signatures of Epithelial-Mesenchymal-Transition (EMT)...
February 5, 2018: Development
Xing Ge, Qiao-Mei Shi, Zhen Ding, Qiang Ju, Hui Wang, Qi Wang, Meng-Xue Li, Gang Chen, Heng-Xue Wang, Li-Chun Xu
OBJECTIVE: Nonsyndromic clefts of the lip and/or palate (NSCL/P) are one of the most common polygenic diseases. Recently, many studies focused on the association between CRISPLD2 polymorphisms and NSCL/P risk. However, some studies have shown opposite results. In this study, meta-analysis was used to confirm whether CRISPLD2 polymorphism was associated with NSCL/P, and the possible mechanism between CRISPLD2 and NSCL/P was explored. METHODS: Relevant studies were conducted on PubMed, Ovid, EBSCO, CINAHL, FMRS, Web of Science, CNKI, and Wanfang databases from their inception up to June 31, 2016...
March 2018: Cleft Palate-craniofacial Journal
Yuri A Zarate, Constance L Smith-Hicks, Carol Greene, Mary-Alice Abbott, Victoria M Siu, Amy R U L Calhoun, Arti Pandya, Chumei Li, Elizabeth A Sellars, Julie Kaylor, Katherine Bosanko, Louisa Kalsner, Alice Basinger, Anne M Slavotinek, Hazel Perry, Margarita Saenz, Marta Szybowska, Louise C Wilson, Ajith Kumar, Caroline Brain, Meena Balasubramanian, Holly Dubbs, Xilma R Ortiz-Gonzalez, Elaine Zackai, Quinn Stein, Cynthia M Powell, Samantha Schrier Vergano, Allison Britt, Angela Sun, Wendy Smith, E Martina Bebin, Jonathan Picker, Amelia Kirby, Hailey Pinz, Hannah Bombei, Sonal Mahida, Julie S Cohen, Ali Fatemi, Hilary J Vernon, Rebecca McClellan, Leah R Fleming, Brittney Knyszek, Michelle Steinraths, Cruz Velasco Gonzalez, Anita E Beck, Katie L Golden-Grant, Alena Egense, Aditi Parikh, Chantalle Raimondi, Brad Angle, William Allen, Suzanna Schott, Adi Algrabli, Nathaniel H Robin, Joseph W Ray, David B Everman, Michael J Gambello, Wendy K Chung
SATB2-associated syndrome (SAS) is an autosomal dominant disorder characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Previous studies have largely been restricted to case reports and small series without in-depth phenotypic characterization or genotype-phenotype correlations. Seventy two study participants were identified as part of the SAS clinical registry. Individuals with a molecularly confirmed diagnosis of SAS were referred after clinical diagnostic testing...
February 13, 2018: American Journal of Medical Genetics. Part A
Fang Peng, Li-Li Zhong, Xiao-Juan Lin, Min Chen, Miao Zhou
OBJECTIVE: To investigate the distribution characteristics and clinical features of Burkholderia cepacia infection in children. METHODS: A retrospective analysis was performed for the clinical data of 16 children with Burkholderia cepacia infection who were hospitalized between June 2012 and September 2017. RESULTS: All 16 children with Burkholderia cepacia infection were sporadic cases. A total of 16 strains of Burkholderia cepacia were isolated, among which 8 were detected by sputum culture, 5 were detected by blood culture, 2 were detected by tracheal intubation tip culture, and 1 was detected by lung biopsy culture...
February 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
Ziquan Li, Chengxian Yang, Xinjie Bao, Yong Yao, Ming Feng, Kan Deng, Xiaohai Liu, Bing Xing, Renzhi Wang
OBJECTIVE: Pituitary abscess (PA) is a rare but serious intrasellar disorder with potentially high disability and mortality. Secondary PA following transsphenoidal surgery (TS) is extremely rare and only a few case reports were identified in the literature. This study explored the salient clinical manifestations and etiologies to determine appropriate treatment. METHODS: A retrospective review of 6,832 consecutive patients who had undergone transsphenoidal surgery for pituitary diseases in Peking Union Medical College Hospital between 2003 and 2017 was performed...
February 6, 2018: World Neurosurgery
Ying Liang, Letao Chen, Hong Yu, Hua Wang, Qi Li, Renhe Yu, Jiabi Qin
It is inconclusive nowadays for which type of congenital malformations(CMs) is increased in singleton pregnancies following after in vitro fertilization(IVF)/intracytoplasmic sperm injection(ICSI) compared with those after spontaneous conception; furthermore, a complete overview is missing. We conducted a meta-analysis of cohort studies to assess the risk of specific CMs associated with IVF/ICSI singleton pregnancies. Unrestricted searches were conducted, with an end date parameter of 1 June 2017, of PubMed, Embase, Google Scholar, Cochrane Libraries, and Chinese databases...
January 9, 2018: Oncotarget
Jeffanie Wu, Rakesh K Chandra, Ping Li, Benjamin P Hull, Justin H Turner
OBJECTIVES/HYPOTHESIS: The etiology of chronic rhinosinusitis (CRS)-associated olfactory loss is unclear, but may result from inflammatory changes in the olfactory epithelium that result in signaling dysfunction or loss of olfactory neurons. Several proinflammatory cytokines have been associated with CRS, but their expression within the olfactory cleft microenvironment and association with olfactory function is unknown. STUDY DESIGN: Prospective case-control study...
February 8, 2018: Laryngoscope
Wei Zhang, Shanshan Zhou, Yuwei Gao, Hongquan Song, Xiaohui Jiao, Xiaotong Wang, Yong Li
Maternal exposure to 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) induces cleft palate formation in mice. This TCDD treatment, which may be considered an environmental factor in cleft palate formation, is associated with alterations in DNA methylation. However, the underlying molecular mechanisms of DNA methylation produced by TCDD in mouse embryos are poorly understood. DNA methyltransferases (DNMTs) and methyl‑CpG binding domain proteins (MBDs) are thought to be closely associated with the actions of DNA methylation...
January 30, 2018: Molecular Medicine Reports
Shuo Du, Li-Jia Qu, Junyu Xiao
Catharanthus roseus Receptor-Like Kinase 1-like (CrRLK1L) proteins contain two tandem malectin-like modules in their extracellular domains (ECDs) and function in diverse signaling pathways in plants. Malectin is a carbohydrate-binding protein in animals and recognizes a number of diglucosides; however, it remains unclear how the two malectin-like domains in the CrRLK1L proteins sense the ligand molecule. In this study, we reveal the crystal structures of the ECDs of ANXUR1 and ANXUR2, two CrRLK1L members in Arabidopsis thaliana that have critical functions in controlling pollen tube rupture during the fertilization process...
February 1, 2018: Protein Science: a Publication of the Protein Society
Ming Chen, Shi-Hao Zheng, Min Yang, Zhi-Hua Chen, Shi-Ting Li
To compare the different levels of preoperative inflammatory markers in peripheral blood samples between craniopharyngioma (CP) and other sellar region tumors so as to explore their differential diagnostic value. The level of white blood cell (WBC), neutrophil, lymphocyte, monocyte, platelet, albumin, neutrophil lymphocyte ratio (NLR), derived NLR (dNLR), platelet lymphocyte ratio (PLR), monocyte lymphocyte ratio (MLR) and prognostic nutritional index (PNI) were compared between the CP and other sellar region tumors...
January 31, 2018: Journal of Neuro-oncology
Haidong Li, Tao Song
PURPOSE: To introduce nickel-titanium wire as suture material for closure of incisions in cleft lip procedures. METHOD: Closure of skin incisions using nickel-titanium wire as suture material, with postoperative follow-up wound evaluation. RESULTS: There was excellent patient satisfaction and good cosmetic outcome. CONCLUSION: Nickel-titanium wire is an excellent alternative for suture closure of cleft lip surgical incisions...
January 29, 2018: Journal of Craniofacial Surgery
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