Database : MEDLINE
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[PMID]: 29454005
[Au] Autor:Alonso GC; Pavarina AC; Sousa TV; Klein MI
[Ad] Address:Department of Dental Materials and Prosthodontics, São Paulo State University (Unesp), School of Dentistry, Araraquara, São Paulo, Brazil.
[Ti] Title:A quest to find good primers for gene expression analysis of Candida albicans from clinical samples.
[So] Source:J Microbiol Methods;147:1-13, 2018 Feb 15.
[Is] ISSN:1872-8359
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Biofilm production contributes to several human diseases, including oral candidiasis. Among the Candida species, Candida albicans is the most prevalent. The expression of virulence genes is implicated in the pathogenic potential of Candida biofilms. However, the evaluation of microbial gene expression from in vivo biofilm samples is not trivial, specifically, assessment via quantitative PCR (qPCR) can be a challenge because of several species present in clinical samples. Hence, the necessity of primers specificity. The aim of this study was to evaluate through in silico and in vitro analyses the specificity of published primers and newly designed primers for C. albicans virulence genes: ALS1, CAP1, CAT1, EFG1, HWP1, LIP3, PLB1, SAP1, SAP4, SOD1, SOD5 and ACT1 (normalizing gene). In silico analysis was performed through a PubMed search of articles with primer sequences that evaluated gene expression of C. albicans. Then, the sequence similarity of twenty-eight primers was checked through BLASTn and ClustalW2. The analysis of secondary structures was performed using mfold. When the primers did not present satisfactory characteristics (absence of secondary structures, not discrepant Tm of forward and reverse sequences and specificity) following in vitro analysis (i.e., end point PCR), new primers were designed using Beacon Designer™ and sequences obtained from the "Candida Genome Database". The selected primers were tested in vitro by end point PCR using a panel of genomic DNA from five different Candida species (C. albicans, Candida glabrata, Candida dubliniensis, Candida krusei, and Candida tropicalis). The resulting PCR products were visualized on agarose gel. qPCR reactions were performed to determine primers' optimal concentration and PCR efficiency. End point PCR demonstrated that published primers for the SAP1 and HWP1 were specific for C. albicans and the one for SOD1 reacted with C. albicans and C. dubliniensis. The sequence of primers designed for ACT1, ALS1 and HWP1 genes were specific for C. albicans, while the ones for CAP1, CAT1, EFG1, LIP3, and PLB1 were detected in C. albicans and C. dubliniensis. After optimization, all primers presented a single peak on melt curves, correlation coefficient of ≅1 and qPCR reaction efficiency of 90-110%, with slope of ≅-3.3. Therefore, these primers should be suitable for future gene expression analyses from clinical samples.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher

  2 / 6023 MEDLINE  
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[PMID]: 29523099
[Au] Autor:Cadieux-Dion M; Safina NP; Engleman K; Saunders C; Repnikova E; Raje N; Canty K; Farrow E; Miller N; Zellmer L; Thiffault I
[Ad] Address:Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA. mcadieuxdion@cmh.edu.
[Ti] Title:Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report.
[So] Source:BMC Med Genet;19(1):41, 2018 Mar 09.
[Is] ISSN:1471-2350
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Ectodermal dysplasias (ED) are a group of diseases that affects the development or function of the teeth, hair, nails and exocrine and sebaceous glands. One type of ED, ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC or Hay-Wells syndrome), is an autosomal dominant disease characterized by the presence of skin erosions affecting the palms, soles and scalp. Other clinical manifestations include ankyloblepharon filiforme adnatum, cleft lip, cleft palate, craniofacial abnormalities and ectodermal defects such as sparse wiry hair, nail changes, dental changes, and subjective hypohydrosis. CASE PRESENTATION: We describe a patient presenting clinical features reminiscent of AEC syndrome in addition to recurrent infections suggestive of immune deficiency. Genetic testing for TP63, IRF6 and RIPK4 was negative. Microarray analysis revealed a 2 MB deletion on chromosome 1 (1q21.1q21.2). Clinical exome sequencing uncovered compound heterozygous variants in CHUK; a maternally-inherited frameshift variant (c.1365del, p.Arg457Aspfs*6) and a de novo missense variant (c.1388C > A, p.Thr463Lys) on the paternal allele. CONCLUSIONS: To our knowledge, this is the fourth family reported with CHUK-deficiency and the second patient with immune abnormalities. This is the first case of CHUK-deficiency with compound heterozygous pathogenic variants, including one variant that arose de novo. In comparison to cases found in the literature, this patient demonstrates a less severe phenotype than previously described.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:In-Data-Review
[do] DOI:10.1186/s12881-018-0556-2

  3 / 6023 MEDLINE  
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[PMID]: 29464980
[Au] Autor:Mansouri P; Azizian Z; Hejazi S; Chalangari R; Chalangari KM
[Ad] Address:a Skin and Stem Cell Research Center, Tehran University of Medical Sciences , Tehran , Iran.
[Ti] Title:Evaluation the efficacy of trichloroacetic acid (TCA) 33% in treatment of oral retinoid-induced cheilitis compared with placebo (Vaseline): a randomized pilot study.
[So] Source:J Dermatolog Treat;:1-4, 2018 Mar 06.
[Is] ISSN:1471-1753
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Oral Isotretinoin (13-cis-retinoic acid) is a gold standardtreatment for severe forms of acne with cheilitis as a most frequent complication. We designed this novel study to investigate the therapeutic effect of trichloroacetic acid (TCA) 33% as compared with placebo to treat cheilitis. METHODS: In this pilot study, 90 acne vulgaris patients between 18 and 50 years, who referred dermatologic clinic with cheilitis, were assigned to either case (TCA) or control (Vaseline) group using permuted-block randomization from 2013 to 2015 with data analysis in 2016. Patients had follow-up visits after 2 and 6 weeks, at which their lesions were photographed. Two blinded expert dermatologists recorded physician International global score for each image. RESULTS: Ninety eligible patients were randomly allocated into two groups. This included 45 patients in each group. At the end of follow-up, 44 patients in the intervention group and 37 patients in control group completed the final assessment. Compared to the control group, the TCA group had a greater reduction in the mean ICGS value from baseline to Week 6 (mean difference 2.59 points, p < .0001). CONCLUSIONS: TCA can be considered as a good strategy in improvement of cheilitis to isotretinoin therapy.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:Publisher
[do] DOI:10.1080/09546634.2018.1441489

  4 / 6023 MEDLINE  
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[PMID]: 29274161
[Au] Autor:Borges JF; Lanaro ND; Bernardo VG; Albano RM; Dias F; de Faria PA; Pinto LF; Lourenço SQ
[Ad] Address:Av. das Acacias, 150, bl.01, ap. 104 Barra da Tijuca, RJ, Brazil 22776000, silourenco2015@gmail.com.
[Ti] Title:Lower lip squamous cell carcinoma in patients with photosensitive disorders: Analysis of cases treated at the Brazilian National Cancer Institute (INCA) from 1999 to 2012.
[So] Source:Med Oral Patol Oral Cir Bucal;23(1):e7-e12, 2018 Jan 01.
[Is] ISSN:1698-6946
[Cp] Country of publication:Spain
[La] Language:eng
[Ab] Abstract:BACKGROUND: Lower lip squamous cell carcinoma (LLSCC) is a common malignancy of the head and neck, being mainly a consequence of a chronic exposure to ultraviolet (UV) light solar radiation. Here, we evaluated the clinicopathological profile of patients with photosensitive disorders (xeroderma pigmentosum, lupus erythematosus and albinism) that developed LLSCC. MATERIAL AND METHODS: Data from patients who had a diagnosed LLSCC with a prior xeroderma pigmentosum, lupus erythematosus or albinism diagnosis that were treated at INCA from 1999 to 2012 were collected from patients medical records (n=16). The control group was composed of 68 patients with LLSCC without a medical history of photosensitivity. The clinicopathological data of this study population were collected and the association between these variables was analyzed by Fisher's exact test. Survival curves were constructed using the Kaplan-Meier method and compared by log-rank test. All statistical analyses were performed using SPSS statistics package. RESULTS: The mean age of patients in the photosensitive and non-photosensitive groups was 42 years and 67 years, respectively (p<0.0001). A previous history of malignant diseases was more common in the photosensitive group (p=0.001). In both groups, most tumors showed a pathological stage I/II disease. Overall and cancer-specific survival were not statistically different. However, disease-free interval showed a significant difference (p=0.01) between the photosensitive and non-photosensitive patients. CONCLUSIONS: Photosensitive patients presented LLSCC at earlier age but it usually was not the primary tumor in these patients. Furthermore, a more aggressive pathological behavior was not seen when compared with tumors from non-photosensitive patients. The disease-free interval was lower in photosensitive patients, as expected.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180227
[Lr] Last revision date:180227
[St] Status:In-Process
[do] DOI:10.4317/medoral.21960

  5 / 6023 MEDLINE  
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[PMID]: 29480610
[Au] Autor:Georgakopoulou EA; Malamos D; Achtari MD
[Ad] Address:Laboratory of Histology-Embryology Molecular Carcinogenesis Group, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
[Ti] Title:Oral lichenoid lesions of the upper lip and gingiva: What we know so far.
[So] Source:Oral Dis;24(1-2):135-137, 2018 Mar.
[Is] ISSN:1601-0825
[Cp] Country of publication:Denmark
[La] Language:eng
[Ab] Abstract:The clinical presentation of oral lichen planus and oral lichenoid lesions is diverse. A special category of patients presents with lichenoid lesions affecting only the mucosa of their upper lip and the anterior upper gingiva. This is a concise review summarizing the specific characteristics of these patients.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180226
[Lr] Last revision date:180226
[St] Status:In-Process
[do] DOI:10.1111/odi.12763

  6 / 6023 MEDLINE  
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[PMID]: 29437515
[Au] Autor:Ge X; Shi QM; Ding Z; Ju Q; Wang H; Wang Q; Li MX; Chen G; Wang HX; Xu LC
[Ad] Address:1 School of Public Health, Xuzhou Medical University, Xuzhou, Jiangsu, China.
[Ti] Title:Association Between CRISPLD2 Polymorphisms and the Risk of Nonsyndromic Clefts of the Lip and/or Palate: A Meta-analysis.
[So] Source:Cleft Palate Craniofac J;55(3):328-334, 2018 Mar.
[Is] ISSN:1545-1569
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. Review Manager 5.0.24 was used to analyze whether CRISPLD2 polymorphism was involved in NSCL/P by pooling odds ratios (ORs) and 95% confidence intervals (CIs). Potential publication bias was evaluated by visual inspection of the funnel plot. RESULTS: CRISPLD2 rs4783099 was associated with cleft lip and/or palate (CL/P) statistically (OR = 3.18, P < .01). Compared to genotype TT, genotypes CC and CT were correlated significantly (OR = 2.04, P = .04) with CL/P. No evidence showed an association between genetic variation at the CRISPLD2 locus and cleft palate only (CP). CONCLUSION: The polymorphism of CRISPLD2 rs4783099 is correlated with an increased risk of CL/P.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180213
[Lr] Last revision date:180213
[St] Status:In-Data-Review
[do] DOI:10.1177/1055665617738995

  7 / 6023 MEDLINE  
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[PMID]: 29429458
[Au] Autor:Peng F; Zhong LL; Lin XJ; Chen M; Zhou M
[Ad] Address:Department of Pediatrics, Hunan Provincial People's Hospital, Changsha 410000, China. 570047414@qq.com.
[Ti] Title:[Burkholderia cepacia infection in children: a clinical analysis of 16 cases].
[So] Source:Zhongguo Dang Dai Er Ke Za Zhi;20(2):112-115, 2018 Feb.
[Is] ISSN:1008-8830
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract: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. Of the 16 children, there were 11 boys and 5 girls, with an age of 5 days to 6 years, and the children aged <1 year accounted for 69%. As for department distribution, 10 children were in the PICU/NICU and 6 were in the general wards. As for clinical manifestations, one child had disseminated intravascular coagulation, and the other 15 children had pulmonary infection, among who 11 had severe pneumonia (8 of them underwent mechanical ventilation during treatment). As for underlying diseases, 2 had severe congenital heart disease, 4 had primary immunodeficiency, 3 were highly suspected of immunodeficiency or inherited metabolic diseases, 1 had tracheal stenosis, 1 had Kawasaki disease, 1 was a preterm infant with bronchopulmonary dysplasia, 1 had severe cleft lip and palate, and 3 had no definite underlying diseases. Of all the children, 7 also had infections with adenovirus and Mycoplasma. The average length of hospital stay was 20.3 days for all children, and 12 were improved and 4 died after treatment. All 16 strains of Burkholderia cepacia had a drug resistance rate of 100% to amikacin and gentamicin and ≥80% to ampicillin/sulbactam and ticarcillin/clavulanic acid, as well as the lowest drug resistance rate to levofloxacin. CONCLUSIONS: Burkholderia cepacia is an opportunistic pathogen often found in immunocompromised children and can produce drug resistance. The presence or absence of underlying diseases should be considered during anti-infective therapy. The children with Burkholderia cepacia infection often have a poor prognosis, and an understanding of the disease spectrum of Burkholderia cepacia infection helps with clinical diagnosis and treatment.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180212
[Lr] Last revision date:180212
[St] Status:In-Data-Review

  8 / 6023 MEDLINE  
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[PMID]: 29419585
[Au] Autor:Ju R; Zeng W; Lian X; Chen G; Yin H; Tang W
[Ad] Address:Department of Oral and Maxillofacial Surgery, Sichuan University West China College of Stomatology, Chengdu, China.
[Ti] Title:Application of Digital Diagnosis and Treatment Technique in Benign Mandibular Diseases.
[So] Source:J Craniofac Surg;, 2018 Feb 06.
[Is] ISSN:1536-3732
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:PURPOSE: To explore the feasibility of preoperative planning for treatment of benign mandibular lesions (BML) using digital technologies such as three-dimensional (3D) reconstruction, measurement, visualization as well as image contrast and design of neural positioning protection template (NPPT) in combination with 3D printing technology in the BML diagnosis and treatment. METHODS: The 3D models of BML and inferior alveolar nerves (IAN) of 10 BML patients were reconstructed based on their digital imaging and communications in medicine (DICOM) data using MIMICS16.0 software. The models were used to visualize lesions and nerve contrast measurement and guide design of personalized NPPT and osteotomy after operation modality was determined in order to achieve accurate, minimally invasive operation with shortened intraoperative time. RESULTS: Intraoperative NPPT application could accurately locate lesions and their scope and assist osteotomy. The measurement results were consistent with those of preoperative reconstruction and measurement. The BML were curetted completely without damage IAN. The 10 BML patients had no numbness and other discomforts in the lower lip and mandibular teeth after operation. CONCLUSIONS: The digital diagnosis and treatment technology is an effective method for functional treatment of BML patients and its application could achieve personalized, minimally invasive and precise treatment and save intraoperation time.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180208
[Lr] Last revision date:180208
[St] Status:Publisher
[do] DOI:10.1097/SCS.0000000000004216

  9 / 6023 MEDLINE  
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[PMID]: 29339502
[Au] Autor:Russo C; Osterburg C; Sirico A; Antonini D; Ambrosio R; Würz JM; Rinnenthal J; Ferniani M; Kehrloesser S; Schäfer B; Güntert P; Sinha S; Dötsch V; Missero C
[Ad] Address:Centro di Ingegneria Gentica e Biotecnologie Avanzate, 80145 Naples, Italy.
[Ti] Title:Protein aggregation of the p63 transcription factor underlies severe skin fragility in AEC syndrome.
[So] Source:Proc Natl Acad Sci U S A;115(5):E906-E915, 2018 Jan 30.
[Is] ISSN:1091-6490
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The gene encodes a master regulator of epidermal commitment, development, and differentiation. Heterozygous mutations in the C-terminal domain of the gene can cause ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, a life-threatening disorder characterized by skin fragility and severe, long-lasting skin erosions. Despite deep knowledge of p63 functions, little is known about mechanisms underlying disease pathology and possible treatments. Here, we show that multiple AEC-associated p63 mutations, but not those causative of other diseases, lead to thermodynamic protein destabilization, misfolding, and aggregation, similar to the known p53 gain-of-function mutants found in cancer. AEC mutant proteins exhibit impaired DNA binding and transcriptional activity, leading to dominant negative effects due to coaggregation with wild-type p63 and p73. Importantly, p63 aggregation occurs also in a conditional knock-in mouse model for the disorder, in which the misfolded p63 mutant protein leads to severe epidermal defects. Variants of p63 that abolish aggregation of the mutant proteins are able to rescue p63's transcriptional function in reporter assays as well as in a human fibroblast-to-keratinocyte conversion assay. Our studies reveal that AEC syndrome is a protein aggregation disorder and opens avenues for therapeutic intervention.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180207
[Lr] Last revision date:180207
[St] Status:In-Data-Review
[do] DOI:10.1073/pnas.1713773115

  10 / 6023 MEDLINE  
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[PMID]: 29188701
[Au] Autor:Malamos D; Scully C
[Ti] Title:Clinical Challenges Q&A 31. Painful Lip.
[So] Source:Dent Update;44(5):463, 2017 May.
[Is] ISSN:0305-5000
[Cp] Country of publication:England
[La] Language:eng
[Mh] MeSH terms primary: Lip Diseases/diagnosis
Oral Ulcer/diagnosis
[Mh] MeSH terms secundary: Female
Humans
Lip Diseases/complications
Oral Ulcer/complications
Pain/etiology
Young Adult
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180130
[Lr] Last revision date:180130
[Js] Journal subset:D
[Da] Date of entry for processing:171201
[St] Status:MEDLINE


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