Journal articles: 'NSCLP'

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Machado, Renato Assis, Lilianny Querino Rocha de Oliveira, Ana Lúcia Carrinho Ayroza Rangel, Silvia Regina de Almeida Reis, Rafaela Scariot, Daniella Reis Barbosa Martelli, Hercílio Martelli-Júnior, and Ricardo D. Coletta. "Brazilian Multiethnic Association Study of Genetic Variant Interactions among FOS, CASP8, MMP2 and CRISPLD2 in the Risk of Nonsyndromic Cleft Lip with or without Cleft Palate." Dentistry Journal 11, no. 1 (December 26, 2022): 7. http://dx.doi.org/10.3390/dj11010007.

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Associations of CRISPLD2 (cysteine-rich secretory protein LCCL domain containing 2) and genes belonging to its activation pathway, including FOS (Fos proto-oncogene), CASP8 (caspase 8) and MMP2 (matrix metalloproteinase 2), with nonsyndromic orofacial cleft risk, have been reported, but the results are yet unclear. The aim of this study was to evaluate single nucleotide polymorphisms (SNPs) in FOS, CASP8 and MMP2 and to determine their SNP-SNP interactions with CRISPLD2 variants in the risk of nonsyndromic cleft lip with or without cleft palate (NSCL±P) in the Brazilian population. The SNPs rs1046117 (FOS), rs3769825 (CASP8) and rs243836 (MMP2) were genotyped using TaqMan allelic discrimination assays in a case-control sample containing 801 NSCL±P patients (233 nonsyndromic cleft lip only (NSCLO) and 568 nonsyndromic cleft lip and palate (NSCLP)) and 881 healthy controls via logistic regression analysis adjusted for the effects of sex and genomic ancestry proportions with a multiple comparison p value set at ≤0.01. SNP-SNP interactions with rs1546124, rs8061351, rs2326398 and rs4783099 in CRISPLD2 were performed with the model-based multifactor dimensionality reduction test complemented with a 1000 permutation-based strategy. Although the association between FOS rs1046117 and risk of NSCL±P reached only nominal p values, NSCLO risk was significantly higher in carriers of the FOS rs1046117 C allele (OR: 1.28, 95% CI: 1.10–1.64, p = 0.004), TC heterozygous genotype (OR: 1.59, 95% CI: 1.16–2.18, p = 0.003), and in the dominant model (OR: 1.50, 95% CI: 1.10–2.02, p = 0.007). Individually, no significant associations between cleft risk and the SNPs in CASP8 and MMP2 were observed. SNP-SNP interactions involving CRISPLD2 variants and rs1046117 (FOS), rs3769825 (CASP8) and rs243836 (MMP2) yielded several significant p values, mostly driven by FOS rs1046117 and CASP8 rs3769825 in NSCL±P, FOS rs1046117 in NSCLO and CRISPLD2 rs8061351 in NSCLP. Our study is the first in the Brazilian population to reveal the association of FOS rs1046117 with NSCLO risk, and to support that CRISPLD2, CASP8, FOS and MMP2 interactions may be related to the pathogenesis of this common craniofacial malformation.

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Savitha, Sathyaprasad, S. M. Sharma, Shetty Veena, and R. Rekha. "Single nucleotide polymorphism of bone morphogenetic protein 4 gene: A risk factor of non-syndromic cleft lip with or without palate." Indian Journal of Plastic Surgery 48, no. 02 (May 2015): 159–64. http://dx.doi.org/10.4103/0970-0358.163053.

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ABSTRACT Background: The bone morphogenetic protein (BMP) signalling pathway is crucial in a number of developmental processes and is critical in the formation of variety of craniofacial elements including cranial neural crest, facial primordium, tooth, lip and palate. It is an important mediator in regulation of lip and palate fusion, cartilage and bone formation. Aim: To study the role of mutation of BMP4 genes in the aetiology of non-syndromic cleft lip with or without palate (NSCL ± P) and identify it directly from human analyses. Materials and Methods: A case-control study was done to evaluate whether BMP4T538C polymorphism, resulting in an amino acid change of Val=Ala (V152A) in the polypeptide, is associated with NSCL ± P in an Indian paediatric population. Genotypes of 100 patients with NSCL ± P and 100 controls (in whom absence of CL ± P was confirmed in three generations) were detected using a polymerase chain reaction-restriction fragment length polymorphism strategy. Logistic regression was performed to evaluate allele and genotype association with NSCLP. Results: Results showed significant association between homozygous CC genotype with CL ± P (odds ratio [OR]-5.59 and 95% confidence interval [CI] = 2.85-10.99). The 538C allele carriers showed an increased risk of NSCL ± P as compared with 538 T allele (OR - 4.2% CI = 2.75-6.41). Conclusion: This study suggests an association between SNP of BMP4 gene among carriers of the C allele and increased risk for NSCLP in an Indian Population. Further studies on this aspect can scale large heights in preventive strategies for NSCLP that may soon become a reality.

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Goldsberry, Grant, Dan O'Leary, Rich Hichwa, and Peg Nopoulos. "Functional Abnormalities in the Neural Circuitry of Reading in Men with Nonsyndromic Clefts of the Lip or Palate." Cleft Palate-Craniofacial Journal 43, no. 6 (November 2006): 683–90. http://dx.doi.org/10.1597/05-043.

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Objective: The current study was designed to evaluate the neurobiology of reading in a group of men with nonsyndromic clefts of the lip or palate (NSCLP) compared with healthy controls by positron emission tomography. Design: Subjects included eight men with NSCLP compared with six healthy control men. By using radioactively labeled water (O15), regional brain blood flow was obtained during the performance of three simple reading tasks: reading unrelated words, reading unrelated sentences, and reading a story. Results: During each of the reading conditions, NSCLP subjects compared with healthy controls showed increased blood flow in areas previously reported to be involved in language processing and reading (inferior frontal lobe, cerebellum, and occipital lobe). The increased blood flow suggests a possible neural inefficiency. In contrast, when analyzing the brain regions involved in more complex language functioning (reading stories compared with reading only words), control subjects showed an increase in blood flow in a distributed neural circuit, whereas the NSCLP subjects showed a decrease in flow in these regions. Additionally, the NSCLP subjects had activation of several regions not activated in the healthy controls, suggesting a compensatory circuit used for this more complex reading task. Conclusions: These results indicate that subjects with NSCLP show abnormalities in the function of the distributed neural circuitry used for oral reading.

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Xavier, D. L., Y. A. Arif, R. V. Murali, S. Kishore Kumar, S. Vipin Kumar, R. Tamang, K. Thangaraj, and L. V. K. Bhaskar. "Analysis of Microsatellite Polymorphisms in South Indian Patients with Non Syndromic Cleft Lip and Palate." Balkan Journal of Medical Genetics 16, no. 1 (June 1, 2013): 49–54. http://dx.doi.org/10.2478/bjmg-2013-0017.

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Abstract Non syndromic cleft lip and/or palate (NSCLP) is a complex congenital anomaly with varying incidence among patients of different geographical origins. Multiple contributing factors are known to trigger the cleft formation. There are several genes involved in the aetiology of NSCLP and they are different in different populations. The genetic components of clefts that underlie the susceptibility to respond to the environment still remain unclear. In this study, five microsatellite polymorphisms from five candidate genes were employed to analyze the association between these genes and NSCLP in 83 patients and 90 controls. Genotyping was performed by separating and visualizing the fluorescently-labeled polymerase chain reaction (PCR) products. The association of the five microsatellite polymorphisms with NSCLP was tested by using the CLUMP v1.9 program that uses the Monte Carlo method. The genotypic distribution is in Hardy-Weinberg equilibrium in the control group for only the MSX1 and DLX3 genes. The RARA microsatellite was significantly associated with NSCLP. Our results suggest that the RARA gene is involved in pathogenesis of cleft lip and palate in South Indians.

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Andrews-Casal, Melanie, Dennis Johnston, Jack Fletcher, John B. Mulliken, Samuel Stal, and Jacqueline T. Hecht. "Cleft Lip with or without Cleft Palate: Effect of Family History on Reproductive Planning, Surgical Timing, and Parental Stress." Cleft Palate-Craniofacial Journal 35, no. 1 (January 1998): 52–57. http://dx.doi.org/10.1597/1545-1569_1998_035_0052_clwowc_2.3.co_2.

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Objective This study tested whether the presence of a family history of non-syndromic cleft lip with or without cleft palate (NSCLP) lessens the negative impact on reproductive planning, decreases treatment anxiety, and relieves parental stress when there is a recurrent cleft. Design Sixty-one participating families, retrospectively ascertained through their children with NSCLP, were divided into two groups: those with a family history of clefting and those in which only the proband was affected. Setting Each family completed a questionnaire either at their home or during a clinic visit. Participants Questionnaires were distributed to 117 families with an NSCLP child. Of these 117, 49 (42%) had another family member with NSCLP and 68 (58%) had no prior history of clefting. Sixty-one (52%) families returned the questionnaire and were categorized by family history. Main outcome Measures The Parenting Stess Index and the Hollingshead Index of Social Position were included with family and medical history questions in the 137-item questionnaire. Results The reproductive plans of the two groups were quite similar and were not dependent on the families' actual or perceived recurrence risks of NSCLP. The majority (85%) of the children with NSCLP underwent surgical closure at the recommended age. The two groups did not significantly differ on any score on the Parenting Stress Index, indicating a similar parental stress level between the groups. Conclusions These findings suggest that family history does not significantly influence reproductive plans, timing of cleft repair, or stress of parents of a child with NSCLP. Further, these results indicate a need for additional psychosocial study of this population.

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Otero, Liliana, Luis Bermudez, Karina Lizarraga, Irene Tangco, Rocelyn Gannaban, and Daniel Meles. "A Comparative Study of Facial Asymmetry in Philippine, Colombian, and Ethiopian Families with Nonsyndromic Cleft Lip Palate." Plastic Surgery International 2012 (October 24, 2012): 1–6. http://dx.doi.org/10.1155/2012/580769.

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Objective. To compare the asymmetry displayed by Philippine, Colombian, and Ethiopian unaffected parents of patients with nonsyndromic cleft palate (NSCLP) and a control population. Methods. Facial measurements were compared between unaffected parents of NSCLP patients and those in the control group for three populations from South America, Asia, and Africa by anthropometric and photographic measurements. Fluctuating and directional asymmetries, height and width proportions, were analyzed and compared. Results. Fluctuating asymmetries (ear length, middle line to Zigion perpendicular for left and right sides) and variations in the facial thirds demonstrated statistical significance in the study group of unaffected parents from Colombia and Philippines, while increased interorbital distance was evident in the unaffected Ethiopian parents of NSCLP patients. Conclusions. The facial differences in unaffected parents could indicate an underlying genetic liability. Identification of these differences has relevance in the understanding of the etiology of NSCLP.

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Khan, Mahamad Irfanulla, Prashanth CS, and Narasimhamurty Srinath. "Role of PAX7 Gene rs766325 and rs4920520 Polymorphisms in the Etiology of Non-syndromic Cleft Lip and Palate: A Genetic Study." Global Medical Genetics 09, no. 03 (July 15, 2022): 208–11. http://dx.doi.org/10.1055/s-0042-1748531.

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AbstractNon-syndromic cleft lip and palate (NSCLP) is one of the most common birth defects in humans with an overall prevalence of ∼1 in 700 live births around the world. The etiology of NSCLP is complex involving multiple genes, environmental factors, and gene-to-gene interactions. Several genome-wide associations (GWA) studies have shown the association of the paired box 7 (PAX7) gene in the etiology of cleft lip and palate in different populations worldwide. However, there are no reported studies on the association between the rs766325 and rs4920520 polymorphisms and the risk of developing NSCLP in the Indian population. Hence, the present study aimed to test for the probable association between rs766325 and rs4920520 polymorphisms among NSCLP Indian population using a case-parent trio design. Forty case-parent trios were selected from the cleft lip and palate center based on the inclusion and exclusion criteria. Genomic DNA was isolated from the cases and their parents. The rs766325 and rs4920520 polymorphisms of the PAX7 gene were analyzed for their association using the MassARRAY analysis. The statistical analysis was done using the PLINK software. The rs766325 and rs4920520 polymorphisms were tested for the Hardy–Weinberg equilibrium. None of the polymorphisms showed any statistical significance. Hence, the rs766325 and rs4920520 polymorphisms of the PAX7 gene were found to be not associated with NSCLP in the Indian case-parent trios.

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Alam, Mohammad Khursheed, Ahmed Ali Alfawzan, Fatema Akhter, Haytham Jamil Alswairki, and Prabhat Kumar Chaudhari. "Evaluation of Lip Morphology and Nasolabial Angle in Non-Syndromic Cleft Lip and/Palate and Non-Cleft Individuals." Applied Sciences 12, no. 1 (December 30, 2021): 357. http://dx.doi.org/10.3390/app12010357.

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Objective: To investigate the variation between the non-syndromic cleft lip and/or palate (NSCLP) and non-cleft (NC) subjects in relation to the lip morphology (LM) and nasolabial angle (NLA). Materials and Methods: Lateral cephalogram (Late. Ceph.) of 123 individuals (92 NSCLP [29 = bilateral cleft lip and palate (BCLP), 41 = unilateral cleft lip and palate (UCLP), 9 = unilateral cleft lip and alveolus (UCLA), 13 = unilateral cleft lip (UCL)], and 31 NC) who did not undergo any orthodontic treatment were investigated. By WebCeph, an artificial intelligence- (A.I.) driven software, 2 (two) parameters of LM, namely upper lip to E line (LM-1) and lower lip to E line (LM-2), and NLA analysis was carried out for each individual. Multiple tests were carried out for statistical analysis. Results: The mean ± SD observed for LM-1, LM-2, and NLA for NC individuals were 1.56 ± 2.98, 0.49 ± 3.51, and 97.20 ± 16.10, respectively. On the other hand, the mean ± SD of LM-1, LM-2, and NLA for NSCLP individuals were 4.55 ± 4.23, 1.68 ± 2.82, and 82.02 ± 14.66, respectively. No significant variation was observed with respect to gender and side. NSCLP (different types) and NC individuals showed significant disparities in LM-1 and NLA. Conclusion: It can be concluded that parameters of lip morphology such as LM-1, LM-2, and NLA vary among NSCLP and NC individuals.

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Liberton, Denise K., Payal Verma, Konstantinia Almpani, Peter W. Fung, Rashmi Mishra, Snehlata Oberoi, Figen Ç. Şenel, et al. "Craniofacial Analysis May Indicate Co-Occurrence of Skeletal Malocclusions and Associated Risks in Development of Cleft Lip and Palate." Journal of Developmental Biology 8, no. 1 (January 28, 2020): 2. http://dx.doi.org/10.3390/jdb8010002.

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Non-syndromic orofacial clefts encompass a range of morphological changes affecting the oral cavity and the craniofacial skeleton, of which the genetic and epigenetic etiologic factors remain largely unknown. The objective of this study is to explore the contribution of underlying dentofacial deformities (also known as skeletal malocclusions) in the craniofacial morphology of non-syndromic cleft lip and palate patients (nsCLP). For that purpose, geometric morphometric analysis was performed using full skull cone beam computed tomography (CBCT) images of patients with nsCLP (n = 30), normocephalic controls (n = 60), as well as to sex- and ethnicity- matched patients with an equivalent dentofacial deformity (n = 30). Our outcome measures were shape differences among the groups quantified via principal component analysis and associated principal component loadings, as well as mean shape differences quantified via a Procrustes distance among groups. According to our results, despite the shape differences among all three groups, the nsCLP group shares many morphological similarities in the maxilla and mandible with the dentofacial deformity group. Therefore, the dentoskeletal phenotype in nsCLP could be the result of the cleft and the coexisting dentofacial deformity and not simply the impact of the cleft.

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Neela, Praveen Kumar, Gosla Srinivas Reddy, Akhter Husain, Vasavi Mohan, Sravya Thumoju, and Rajeshwari BV. "Association of Single Nucleotide Polymorphisms on Locus 18q21.1 in the Etiology of Nonsyndromic Cleft Lip Palate (NSCLP) in Indian Multiplex Families." Global Medical Genetics 08, no. 01 (February 19, 2021): 024–31. http://dx.doi.org/10.1055/s-0041-1723087.

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Abstract Background Cleft lip palate (CLP) is a common congenital anomaly with multifactorial etiology. Many polymorphisms at different loci on multiple chromosomes were reported to be involved in its etiology. Genetic research on a single multigenerational American family reported 18q21.1 locus as a high-risk locus for nonsyndromic CLP (NSCLP). However, its association in multiple multiplex families and Indian population is not analyzed for its association in NSCLP. Aim This study was aimed to evaluate whether high-risk single nucleotide polymorphisms (SNPs) on chromosome 18q21.1 are involved in the etiology of NSCLP in multiplex Indian families. Materials and Methods Twenty multigenerational families affected by NSCLP were selected for the study after following inclusion and exclusion criteria. Genomic DNA was isolated from the affected and unaffected members of these 20 multiplex families and sent for genetic analysis. High-risk polymorphisms, such as rs6507872 and rs8091995 of CTIF, rs17715416, rs17713847 and rs183559995 of MYO5B, rs78950893 of SMAD7, rs1450425 of LOXHD1, and rs6507992 of SKA1 candidate genes on the 18q21.1 locus, were analyzed. SNP genotyping was done using the MassARRAY method. Statistical analysis of the genomic data was done by PLINK. Results Polymorphisms followed the Hardy–Weinberg equilibrium. In the allelic association, all the polymorphisms had a p-value more than 0.05. The odds ratio was not more than 1.6 for all the SNPs. Conclusion High-risk polymorphisms, such as rs6507872 and rs8091995 of CTIF, rs17715416, rs17713847 and rs183559995 of MYO5B, rs78950893 of SMAD7, rs1450425 of LOXHD1, and rs6507992 of SKA1 in the locus 18q21.1, are not associated with NSCLP in Indian multiplex families.

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Gurramkonda, Venkatesh Babu, Jyotsna Murthy, Altaf Hussain Syed, and Bhaskar VKS Lakkakula. "Lack of association between IRF6 polymorphisms and nonsyndromic oral clefts in South Indian population." Dentistry 3000 1, no. 1 (August 23, 2013): 25–29. http://dx.doi.org/10.5195/d3000.2013.9.

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Objective: This present study is aimed to investigate the association between interferon regulatory factor 6 (IRF6), single nucleotide polymorphisms (SNPs), and nonsyndromic cleft lip without without cleft palate (NSCLP) in the South Indian population. Subject and Methods: For this study, 190 unrelated NSCLP patients and 189 controls without clefts were genotyped with rs2235371 (V2741) and rs642961 SNPs using PCR-RFLP. The associations between NSCLP groups and IRF6 gene polymorphisms, as well as haplotypes, were analyzed using chi-squared test and 95% confidence interval (95%CI) of the odds ratios were calculated with the control groups as reference. Results: For controls, the minor allele frequencies of both variants, V2741 and rs642961, were 7.1% and 21.1%, respectively. Genotype data for both variants in control and cleft groups follow the Hardy Weinberg Equilibrium. Between cases with NSCLP and controls, the two SNPs showed no differences in frequencies of the genotypes or alleles. The pairwise linkage disequilibrium (LD) values (D’=1 and r2=0.027) between V2741 and rs642961 revealed that these two SNPs are not in strong LD. Haplotype G-T showed a significantly reduced risk for oral clefts (p<0.001) and haplotype A-T increased the risk for oral clefts (p=0.043). Gene-gene interaction showed that the higher risk group contains more GG-CC combination of cases that the controls, but this model was not significantly associated with cleft status (p=0.136) Conclusion: In conclusion, while IRF6 is strongly associated in other populations, this study demonstrated that variants in IRF6 may play a role in NSCLP in a South Indian population, but other genes are expected to play a role in this population as well.

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Yoon, Young-Jooh, Marja R. Perkiomaki, Ross H. Tallents, Ingrid Barillas, Roberto Herrera-Guido, Chin-To Fong, and Stephanos Kyrkanides. "Transverse Craniofacial Features and Their Genetic Predisposition in Families with Nonsyndromic Unilateral Cleft Lip and Palate." Cleft Palate-Craniofacial Journal 41, no. 3 (May 2004): 256–61. http://dx.doi.org/10.1597/02-134.1.

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Objective The purpose of this study was to evaluate the transverse craniofacial form in families with nonsyndromic cleft lip and palate (NSCLP). It was hypothesized that affected as well as noncleft NSCLP family members are characterized by a common array of craniofacial features that differ from the general population. Design This was a prospective cross-sectional investigation that included affected children with NSCLP and their noncleft parents and siblings. Patients, Participants A total of 114 subjects (14 affected girls, 17 affected girls, 15 unaffected male siblings, 10 unaffected female siblings, 29 unaffected biological mothers, and 29 unaffected biological fathers) were included. Subject records comprised of posteroanterior cephalometric radiographs obtained from all 114 subjects. Main Outcome Measures The width of midfacial structures, including the orbit and nose, was increased in NSCLP families, compared with published norms. Interestingly, the face was disproportionally wider in relation to total facial height. The transverse craniofacial form of children with or without clefts significantly correlated with that of their parents. Mothers displayed strong correlation with their affected and unaffected sons, whereas fathers correlated to their daughters, suggesting a possible sex-linked developmental influence. Conclusion Better understanding of the genetic inheritance of craniofacial features associated with cleft lip and palate may ultimately contribute to the development of cleft risk assessment methods.

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He, M., X. Zuo, H. Liu, W. Wang, Y. Zhang, Y. Fu, Q. Zhen, et al. "Genome-wide Analyses Identify a Novel Risk Locus for Nonsyndromic Cleft Palate." Journal of Dental Research 99, no. 13 (August 6, 2020): 1461–68. http://dx.doi.org/10.1177/0022034520943867.

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The 3 major subphenotypes observed in patients with nonsyndromic orofacial clefts (NSOFCs) are nonsyndromic cleft lip only (NSCLO), nonsyndromic cleft lip with palate (NSCLP), and nonsyndromic cleft palate only (NSCPO). However, the genetic architecture underlying NSCPO is largely unknown. Here we performed a 2-stage genome-wide association study (GWAS) on NSCPO and replication analyses of selected variants in other NSOFCs from the Chinese Han population. We identified a novel locus (15q24.3) and a known locus (1q32.2) where variants in or near the gene reached genome-wide significance (2.80 × 10−13 < P < 1.72 × 10−08) in a test for association with NSCPO in a case-control design. Although a variant from 15q24.3 was found to be significantly associated with both NSCPO and NSCLP, the direction of estimated effects on risk were opposite. Our functional annotation of the risk alleles within 15q24.3 coupled with previously established roles of the candidate genes within identified risk loci in periderm development, embryonic patterning, and/or regulation of cellular processes supports their involvement in palate development and the pathogenesis of cleft palate. Our study advances the understanding of the genetic basis of NSOFCs and provides novel insights into the pathogenesis of NSCPO.

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Suazo, J., J. L. Santos, H. Carreño, L. Jara, and R. Blanco. "Linkage Disequilibrium between MSX1 and Non-syndromic Cleft Lip/Palate in the Chilean Population." Journal of Dental Research 83, no. 10 (October 2004): 782–85. http://dx.doi.org/10.1177/154405910408301009.

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Non-syndromic cleft lip/palate (NSCLP) is a complex genetic trait. Linkage and association studies have suggested that a clefting locus could be located on chromosome 4p. Sixty Chilean families were recruited for this study; from these, we used unrelated trios to evaluate the possible linkage disequilibrium between MSX1 and NSCLP. An intragenic marker, MSX1-CA, and an extragenic marker, D4S432 at a distance of 0.8 cM from MSX1, were analyzed by means of polymerase chain-reaction with fluorescent-labeled forward primers, followed by electrophoresis on a laser-fluorescent sequencer. We carried out a transmission/disequilibrium test (TDT) for multiple alleles to evaluate the presence of linkage disequilibrium. Results showed a preferential transmission of the 169-bp allele of MSX1 (p = 0.03). Although there was no preferential transmission for the D4S432 marker, the overall extended TDT (ETDT) showed a significant result (p = 0.01). The authors’ findings support the hypothesis of the contribution of MSX1 in the etiology of NSCLP in the Chilean population.

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Chiquet, B. T., A. C. Lidral, S. Stal, J. B. Mulliken, L. M. Moreno, M. Arcos-Burgos, C. Valencia-Ramirez, S. H. Blanton, and J. T. Hecht. "CRISPLD2: a novel NSCLP candidate gene." Human Molecular Genetics 17, no. 7 (December 7, 2007): 1061. http://dx.doi.org/10.1093/hmg/ddn010.

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Chiquet, Brett T., Andrew C. Lidral, Samuel Stal, John B. Mulliken, Lina M. Moreno, Mauricio Arco-Burgos, Consuelo Valencia-Ramirez, Susan H. Blanton, and Jacqueline T. Hecht. "CRISPLD2: a novel NSCLP candidate gene." Human Molecular Genetics 16, no. 18 (July 5, 2007): 2241–48. http://dx.doi.org/10.1093/hmg/ddm176.

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Hixon, Katherine, Lindsey Rhea, Jennifer Standley, Frank J. Canady, John W. Canady, and Martine Dunnwald. "Interferon Regulatory Factor 6 Controls Proliferation of Keratinocytes from Children with Van der Woude Syndrome." Cleft Palate-Craniofacial Journal 54, no. 3 (May 2017): 281–86. http://dx.doi.org/10.1597/15-275.

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Objective Interferon Regulatory Factor 6 (IRF6) is critical for craniofacial development, epidermal differentiation, and tissue repair. IRF6 mutations cause Van der Woude Syndrome (VWS) and Popliteal Pterygium Syndrome. Individuals with VWS exhibit craniofacial anomalies, including cleft lip and palate and lip pits. Furthermore, they have an increased risk for wound-healing complications following surgical repair when compared with patients with nonsyndromic cleft lip and palate (NSCLP). However, nothing is known about the skin of these patients. The objective was to characterize the skin of patients with VWS. We hypothesize that IRF6 is required for proper skin homeostasis in humans. Design Discarded tissue from a hip was collected during surgical alveolar bone graft. Samples from children with VWS harboring IRF6 mutations ( n = 2) were compared with samples from children with NSCLP ( n = 7). Histology was assessed following hematoxylin and eosin staining. The expressions of Proliferating Cell Nuclear Antigen, IRF6, P63, and Keratin 10 were determined by immunofluorescence. Keratinocytes were isolated and their proliferation potential was assessed by colony-forming efficiency assay. Results Hip skin from children with VWS showed a thicker epidermis when compared with that from children with NSCLP. Proliferating Cell Nuclear Antigen staining revealed an increase in proliferation in syndromic tissues when compared with controls. However, P63 and Keratin 10 expression were similar between groups. Finally, keratinocytes from VWS showed increased long-term proliferation when compared with NSCLP. Conclusions These results support, in vivo and in vitro, a previously described role for IRF6 in epidermal proliferation in humans. They further demonstrate a critical function for IRF6 in cutaneous homeostasis.

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Blanco, Rafael, José Suazo, JoséLuis Santos, Mónica Paredes, Hsiao Sung, Hernán Carreño, and Lilian Jara. "Association between 10 Microsatellite Markers and Nonsyndromic Cleft Lip Palate in the Chilean Population." Cleft Palate-Craniofacial Journal 41, no. 2 (March 2004): 163–67. http://dx.doi.org/10.1597/02-147.

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Objective The objective of this case-control study was to evaluate the possible association between nonsyndromic cleft lip/palate (NSCLP) and 10 genetic markers in four chromosomal regions in the admixed Spanish-Amerindian Chilean population. Setting Study participants included 56 patients with NSCLP identified and interviewed for positive family history during the course of clinical examinations at different rehabilitation centers in the cities of Santiago and Talca, Chile. A control group of 59 normal individuals without known familial antecedents of clefting was obtained from blood bank donors of the University Hospital, University of Chile. Cases and controls belonged to low- to low-middle socioeconomic strata. Results Ten markers from chromosome 4p, 4q, 6p, 17q, and 19q were assessed (MSX1, D4S175, D4S192, F13A1, EDN1, D6S89, D6S105, D6S109, D17S579, BCL3). Four of them showed significant deviations from Hardy-Weinberg expectations in controls, according to the exact test (D4S192, BCL3, F13A1, and D6S89). The case-control comparison by means of the CLUMP program showed significant differences only in BCL3, and D6S109 almost reached statistical significance. Conclusions Most of the genetic regions with positive results in Caucasian populations may not be involved in NSCLP in Chile, regardless of the positive evidence for the candidate region on chromosome 19. Similar findings have been reported recently in the Chinese population.

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Yezioro-Rubinsky, Salomón, Javier H. Eslava-Schmalbach, Liliana Otero, Sara A. Rodríguez-Aguirre, Ángela M. Duque, Flora M. Campos, Juan P. Gómez, et al. "Dental Anomalies in Permanent Teeth Associated With Nonsyndromic Cleft Lip and Palate in a Group of Colombian Children." Cleft Palate-Craniofacial Journal 57, no. 1 (July 8, 2019): 73–79. http://dx.doi.org/10.1177/1055665619861498.

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Objectives: To assess the risk of dental anomaly presentation in permanent teeth in a group of Colombian children with nonsyndromic cleft lip and palate (NSCLP) and to determine the frequency of the anomalies according to the cleft type. Methods: An analytical matched case–control study was conducted with 210 controls and 210 patients with NSCLP. The patients were classified into 3 groups: complete right unilateral cleft lip and palate (RCLP), complete left unilateral cleft lip and palate (LCLP), and complete bilateral cleft lip and palate (BCLP). Univariate and multivariate Poisson regression models were used to analyze paired samples (Bonferroni adjustment, P ≤ .002). Results: A high risk of finding agenesis of the maxillary lateral incisors, supernumerary teeth, microdontia of the maxillary lateral incisors, and rotation of the maxillary central incisors adjacent to the cleft ( P < .0001) was observed in the patients with NSCLP. One or more dental anomalies were found in 98% of patients with BCLP, in 96% of those with LCLP, and in 87% of those with RCLP. Most of the anomalies were located on the cleft area. The incidence relative risk (IRR) of anomalies was highest in patients with BCLP (IRR: 10.5; 95% confidence interval [CI]: 6.76-16.3), followed by in those with LCLP (IRR: 8.51; 95% CI: 5.64-12.8). Conclusions: Most dental anomalies were found in the cleft area; this was expected because the cleft area was the most affected in the patients included in this study.

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Dąbrowska, Justyna, Barbara Biedziak, Agnieszka Lasota, Paweł P. Jagodziński, and Adrianna Mostowska. "Role of ARHGAP29 nucleotide variants in the etiology of non-syndromic cleft lip with or without cleft palate." Journal of Medical Science 89, no. 2 (June 26, 2020): e414. http://dx.doi.org/10.20883/medical.e414.

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Aim. Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a common birth defect of complex and heterogeneous aetiology. Genome-wide association studies (GWAS) of nsCL/P have identified an association for the 1p22.1 chromosomal region, in which ARHGAP29 was suggested as a candidate gene. Thus, the current study aimed to determine the contribution of the common and rare ARHGAP29 nucleotide variants to the risk of nsCL/P in the Polish population. Material and Methods. In total,197 common nucleotide variants (SNVs) and 22 missense variants located within the ARHGAP29 locus at chromosome 1p22.1 were genotyped by SNV microarray. The study was conducted in 269 individuals with nsCL/P and 569 healthy individuals. Results. Statistical analysis revealed that 31 common nucleotide variants located at the ARHGAP29 locus were significantly associated with the increased risk of nsCL/P. The strongest individual SNV was rs2391467 with a p-value = 2.49E-06 (OR = 1.64, 95%CI: 1.34–2.02). Besides, one potentially deleterious missense variant (rs140877322, p. Arg348Leu) was identified in a single patient with nsCLP. Conclusion. These findings confirm ARHGAP29 as a strong candidate gene for nsCL/P, with both common and rare nucleotide variants of this gene involved in the aetiology of nsCL/P in the Polish population.

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Ellis, Peter G., Kathleen Lokay, and Amanda Barry. "Using clinical pathways to understand biomarker testing patterns." Journal of Clinical Oncology 35, no. 15_suppl (May 20, 2017): e18189-e18189. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.e18189.

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e18189 Background: Via Pathways’ Disease Committees incorporate biomarker testing recommendations into the pathway decision support when the literature supports improved outcome. For several years, the non-small cell lung pathway (NSCLP) has recommended testing for ALK, EGFR, and, more recently ROS1 targeted therapies. The decision support software (VP) requires the practitioner to register testing and results, including the decision not to test. Methods: For the twenty months ending 10/31/16, we analyzed all NSCLP patients treated at UPMC CancerCenter locations for first line, metastatic, non-squamous lung cancer per the VP. Results were analyzed in total and by type of provider (83 community providers vs. 3 academic providers who specialize in lung cancer). Provider’s answers to the biomarker testing question included “positive” results, “negative” results, “test pending”, and “not tested”. Results: Of the 684 treatment starts in the 1stline non-squamous NSCLP, 100 were patients of academic providers (AP) and 584 were patients of community providers (CP). AP indicated testing for ALK and EGFR in 100% of patients (n=100). CP indicated testing for ALK in 91% (n=532) and for EGFR in 92% (n=538). AP indicated testing for ROS1 in 96% (n=93) and CP indicated testing for ROS1 in 81% (n=473). Results are summarized in the table. Conclusions: Data from clinical pathways software can be utilized to understand biomarker testing rates among providers. In this example, the three AP tested for actionable mutations more frequently than the 83 CP, although both rates of testing appeared to be high. This data can be used to generate hypothesis about patterns of care that may include patient parameters, size of network or other factors that can then further analyzed and tested. Pathways serves as an important tool in promoting and monitoring quality care. [Table: see text]

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Ojoawo, Adesola O., Abdullai A. Igbemo, Timothy Adeyemi, and Matthew OB Olaogun. "Effects of bridging and V-sitting exercises on pain intensity and disability of patients with non-specific chronic low-back pain." European Journal of Clinical and Experimental Medicine 19, no. 2 (2021): 137–44. http://dx.doi.org/10.15584/ejcem.2021.2.4.

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Introduction. Exercises are important in the management of non-specific chronic low-back pain (NSCLBP). Aim. The study compared the effects of bridging and V-sitting exercises on pain and disability of patients with NSCLBP. Material and methods. 34 patients with NSCLBP recruited for the study were allocated into V-sitting (VSG) and Bridging Exercise group (BEG) equally. Participants in VSG and BEG groups performed V-sitting and bridging exercises respectively for 10 seconds, three times in a week for three weeks under a supervision of one of the authors. Each participants underwent ten sessions per a treatment regimen. Pain intensity and disability were assessed at the pre-intervention, second and third weeks using verbal rating scale and Rolland Morris Low Back Pain Disability Questionnaire prospectively. Data were analyzed using descriptive and inferential statistics, alpha level was set at 0.05 Results. There was a significant reduction in the third week (P < 0.001) in both VSG and BEG group of pain intensity and disability comparing the pre intervention, second and third week values. There was a significant reduction in the 3rd week VSG’s pain intensity (F=27.34 P<0.001) and disability (F=14.96, P<0.001) compared with BEG. Conclusion. V-sitting and bridging exercises were effective in management of patients with NSCLP, but V-sitting seems more effective.

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Blanco, Rafael, José Suazo, JoséLuis Santos, Hernán Carreño, Hernán Palomino, and Lilian Jara. "No Evidence for Linkage and Association between 4q Microsatellite Markers and Nonsyndromic Cleft Lip and Palate in Chilean Case-Parents Trios." Cleft Palate-Craniofacial Journal 42, no. 3 (May 2005): 267–71. http://dx.doi.org/10.1597/03-160.1.

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Objective Nonsyndromic cleft lip/palate (NSCLP) has the characteristics of a complex genetic trait. Linkage and association studies have suggested that one or more clefting loci may be located on chromosome 4q. The goal of this study was to evaluate the possible linkage and association due to linkage disequilibrium between five microsatellite markers located on 4q28 to 4q33 and NSCLP, using the case-parent trio design. Subjects and Methods A total of 56 Chilean families (32 simplex and 24 multiplex) were recruited. Microsatellite markers were analyzed using polymerase chain reaction with fluorescent-labeled forward primers, followed by electrophoresis on a laser-fluorescent sequencer. Case-parents trios were ascertained to assess linkage and linkage disequilibrium through a multistage procedure. Transmission disequilibrium tests for multiple alleles were carried out to assess the statistical significance of 4q28 to 4q33 microsatellite markers. Results Only weak evidence for linkage was obtained for the FGA marker (asymptotic uncorrected p value = .08 and empirical p value = .05). Only the FGA and UCP1 markers were selected for association analysis in trios, with unrelated cases achieving a nearly significant result for the UCP1 marker (asymptotic uncorrected p value = .07 and empirical p value = .19). Conclusion Though the FGA and UCP1 markers showed nearly significant p values for linkage and association, respectively, the results of the present study provided insufficient evidence of the existence of a major susceptibility locus in the 4q region that was analyzed in the present study.

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Blanton, Susan H., Bracken S. Kolle, Jacqueline T. Hecht, John B. Mulliken, and Eden R. Martin. "No evidence supporting MTHFR as a risk factor in the development of familial NSCLP." American Journal of Medical Genetics 92, no. 5 (2000): 370–71. http://dx.doi.org/10.1002/1096-8628(20000619)92:5<370::aid-ajmg17>3.0.co;2-4.

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Gurramkonda, Venkatesh B., Syed A. Hussain, Jyotsna Murthy, and Bhaskar V. K. S. Lakkakula. "Two promoter polymorphisms in TBX22 are associated with the risk of NSCLP in Indian women." Clinical Dysmorphology 24, no. 4 (October 2015): 140–43. http://dx.doi.org/10.1097/mcd.0000000000000088.

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Jaruga, Anna, Jakub Ksiazkiewicz, Krystian Kuzniarz, and Przemko Tylzanowski. "Orofacial Cleft and Mandibular Prognathism—Human Genetics and Animal Models." International Journal of Molecular Sciences 23, no. 2 (January 16, 2022): 953. http://dx.doi.org/10.3390/ijms23020953.

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Many complex molecular interactions are involved in the process of craniofacial development. Consequently, the network is sensitive to genetic mutations that may result in congenital malformations of varying severity. The most common birth anomalies within the head and neck are orofacial clefts (OFCs) and prognathism. Orofacial clefts are disorders with a range of phenotypes such as the cleft of the lip with or without cleft palate and isolated form of cleft palate with unilateral and bilateral variations. They may occur as an isolated abnormality (nonsyndromic—NSCLP) or coexist with syndromic disorders. Another cause of malformations, prognathism or skeletal class III malocclusion, is characterized by the disproportionate overgrowth of the mandible with or without the hypoplasia of maxilla. Both syndromes may be caused by the presence of environmental factors, but the majority of them are hereditary. Several mutations are linked to those phenotypes. In this review, we summarize the current knowledge regarding the genetics of those phenotypes and describe genotype–phenotype correlations. We then present the animal models used to study these defects.

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Shi, Jinna, Tao Song, Xiaohui Jiao, Chunlin Qin, and Jin Zhou. "Single-nucleotide polymorphisms (SNPs) of the IRF6 and TFAP2A in non-syndromic cleft lip with or without cleft palate (NSCLP) in a northern Chinese population." Biochemical and Biophysical Research Communications 410, no. 4 (July 2011): 732–36. http://dx.doi.org/10.1016/j.bbrc.2011.06.006.

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Mossey, Peter A., Julian Little, Regine Steegers-Theunissen, Anne Molloy, Borut Peterlin, William C. Shaw, Candice Johnson, David R. FitzPatrick, Paola Franceschelli, and Michele Rubini. "Genetic Interactions in Nonsyndromic Orofacial Clefts in Europe—EUROCRAN Study." Cleft Palate-Craniofacial Journal 54, no. 6 (November 2017): 623–30. http://dx.doi.org/10.1597/16-037.

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Background Nonsyndromic cleft lip with or without cleft palate (nsCL±P) and nonsyndromic cleft palate (nsCP) are caused by a combination of genetic and environmental risk factors. We investigated gene-environment and gene-gene joint effects in a large multicenter study of case-parent triads. Methods The nsCL±P or nsCP triads were recruited in 11 European countries between 2001 and 2005. We collected DNA samples from infants and from their mothers and fathers, and mothers completed a questionnaire on exposures, including smoking and folic acid supplement use during pregnancy. We used log-linear regression to estimate relative risks (RRs) and 95% confidence intervals (CIs) for associations between nsCL±P or nsCP and variants in MTHFR, MTHFD1, TGFA, SATB2, and MSX1, stratifying by environmental or genetic factors. Results We obtained genotype and exposure data for 728 nsCL±P triads and 292 nsCP triads. In male infants, there was no association between the mother's homozygous MSX1 p(CA) ∗4/∗4 genotype and nsCL±P (RR, 0.98; 95% CI, 0.63–1.54), but this maternal genotype resulted in a doubling of risk for female infants (RR, 2.21; 95% CI, 1.13–4.34). There was evidence suggestive of gene-gene joint-effects between MTHFR-TGFA for nsCP but not for nsCL±P. Conclusion Although we chose the genes and their variants and putative joint effects based on associations previously reported in the literature, we replicated few associations. These results do not provide evidence supporting associations between these genes and oral clefts in European populations, although gene-environment and gene-gene interactions could play a role in oral cleft etiology.

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Cao, Xiying, Weixiang Zhong, Shaoming Guo, Zuxiong Zhang, and Chunfa Xie. "Low expression of miR-27b in serum exosomes of non-small cell lung cancer facilitates its progression by affecting EGFR." Open Medicine 17, no. 1 (January 1, 2022): 816–25. http://dx.doi.org/10.1515/med-2022-0472.

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Abstract Non-small cell lung cancer (NSCLC) is a malignant tumor. Serum exosomal miR-27b is related to tumor diagnosis. We explored the roles of serum exosomal miR-27b in NSCLC. NSCLC patients were assigned to NSCLC-early/terminal groups, with healthy subjects as controls. miR-27b expression was assessed using reverse transcription-quantitative polymerase chain reaction, and its diagnostic efficiency was analyzed using the receiver operating characteristic curve. The correlation between serum exosomal miR-27b expression and tumor markers carcinoembryonic antigen 125 (CA125), carcinoembryonic antigen (CEA), and cytokeratin 19-soluble fragment (CYFRA21-1) was analyzed using the Pearson analysis. The downstream target genes were predicted. Epidermal growth factor receptor (EGFR) level was assessed using enzyme-linked immunosorbent assay. Correlations of miR-27b expression with serum EGFR level and CA125, CEA, and CYFRA21-1 levels were analyzed using the Pearson analysis. Serum exosomal miR-27b was diminished in NSCLC and was further decreased in the NSCLS-terminal group. The sensitivity of miR-27b < 0.8150 for NSCLC diagnosis was 76.64%, and the specificity was 83.33%. Serum exosomal miR-27b was negatively correlated with CA125, CEA, and CYFRA21-1. miR-27b targeted EGFR. Serum EGFR was raised in NSCLC and was further elevated in the NSCLS-terminal group. miR-27b expression was negatively correlated with EGFR level. EGFR level was positively correlated with CA125, CEA, and CYFRA21-1 levels. Collectively, low expression of miR-27b assisted NSCLC diagnosis, and miR-27b exerted effects on NSCLC through EGFR.

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Nopoulos, Peg, Ian Choe, Stephanie Berg, Duane Van Demark, John Canady, and Lynn Richman. "Ventral Frontal Cortex Morphology in Adult Males with Isolated Orofacial Clefts: Relationship to Abnormalities in Social Function." Cleft Palate-Craniofacial Journal 42, no. 2 (March 2005): 138–44. http://dx.doi.org/10.1597/03-112.1.

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Objective In a previous magnetic resonance imaging (MRI) study, men with nonsyndromic clefts of the lip and/or palate (NSCLP) were found to have abnormalities in the structure of the frontal lobe of the brain. Moreover, many subjects with nonsyndromic clefts of the lip and/or palate have been described as being socially inhibited. A subregion of the frontal lobe, the ventral frontal cortex (VFC), has been shown to be related to social function. This study was designed to evaluate the morphology of the ventral frontal cortex in men with nonsyndromic clefts of the lip and/or palate, and the morphology's relationship to social function. Methods Subjects were 46 men with nonsyndromic clefts of the lip and/or palate and 46 sex matched controls. Social function was assessed using a standardized scale. The morphology of the ventral frontal cortex (composed of the orbitofrontal cortex [OFC] and the straight gyrus [SG]) was obtained from magnetic resonance imaging scans using the software BRAINS. Results After controlling for frontal lobe gray matter, the patient group had significant reductions in orbitofrontal cortex volume and area. The straight gyrus was not morphologically abnormal. Measures of orbitofrontal cortex morphology were significantly correlated to measures of social function—the greater the structural abnormality, the greater the social dysfunction. Conclusion Compared with healthy controls, subjects with nonsyndromic clefts of the lip and/or palate showed morphologic abnormalities in the cortical surface anatomy of a brain region known to govern social function, the orbitofrontal cortex. Moreover, the structural abnormality in this brain region was directly correlated with social function.

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Shibano, Masayasu, Akira Watanabe, Nobuo Takano, Hiroyuki Mishima, Akira Kinoshita, Koh-ichiro Yoshiura, and Takahiko Shibahara. "Target Capture/Next-Generation Sequencing for Nonsyndromic Cleft Lip and Palate in the Japanese Population." Cleft Palate-Craniofacial Journal 57, no. 1 (July 23, 2019): 80–87. http://dx.doi.org/10.1177/1055665619857650.

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Objective: The pathogenesis of nonsyndromic cleft lip with or without cleft palate (NSCL ± P) and nonsyndromic cleft palate only (NSCP) may be associated with genetic factors. Although some predisposing genes/loci have been reported, their attributable risk is too small to be clinically meaningful. To clarify the genetic causes and mechanisms of NSCL±P or NSCP, we conducted mutation analysis of target genes using a next-generation sequencing (NGS) approach. Methods: The target genes, IRF6, WNT5A, WNT9B, TP63, MSX1, TFAP2A, PAX9, DLX3, DLX4, and MN1, were selected based on previous reports of potential associations with the development of NSCL±P or NSCP from genome-wide association studies and candidate gene analyses. Mutation analysis was conducted using NGS on 74 Japanese trios (patient and parents) and 18 Japanese patients only families. Results: We detected single-nucleotide variants (SNVs) for 7 genes: IRF6, DLX4, WNT5A, TFAP2A, WNT9B, TP63, and PAX9. The SNVs found on IRF6 and DLX4 were missense mutations, whereas those identified on WNT5A, TFAP2A, WNT9B, TP63, and PAX9 were rare variants in the noncoding region; no de novo mutation was identified in the trio samples. The amino acid change on DLX4 was detected within the highly conserved homeodomain and was predicted to have a deleterious impact on the protein function by in silico analysis. Conclusions: The DLX4 missense mutation c.359C>T (Pro120Leu) was found in 1 Japanese patient with NSCL±P and was located in the homeodomain region. This mutation likely plays a role in the development of NSCL±P in the Japanese population.

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Narukurthi, Ravi Kiran, Nallamothu Murali Krishna, Jetty Mounika, and T. Jaya Chandra. "Clinical response to chemotherapy in non-small cell lung carcinoma patients." International Journal of Research in Medical Sciences 7, no. 12 (November 27, 2019): 4641. http://dx.doi.org/10.18203/2320-6012.ijrms20195531.

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Background: Lung carcinoma is the most common. With this, a study was conducted to assess the clinical profile of Non-small cell lung carcinoma (NSCLC) and also to evaluate the response to chemotherapy in various stages of NSCLC.Methods: It was a prospective study. All the clinically confirmed cases with NSCLC were taken into consideration. Clinical staging was done, diagnosis was confirmed by histopathological findings. Treatment was given depending on the stage of carcinoma. Patients were evaluated before each cycle of chemotherapy for any progression of disease. Pathological response was evaluated after completion of 6 cycles of chemotherapy. Chi square test was used to find the statistical significance; p<0.05 was considered statistically significant.Results: Total 153 patients admitted to oncology wing were taken to the study, with mean age 59.07±10.618 years, 2.6 male female ratio. In this 73% were in stage III and the remaining in stage IV NSCLC. Majority (56.10%) of the study subjects in stage III NSCLC showed partial response, Majority (68%) of the subjects in stage IV NSCLC showed partial response; the difference was Statistically significant (p<0.05).Conclusions: NSCLS is common in older people with male dominance due to habits.

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Apblett, Allen, and Tristram Chivers. "Synthetic applications and spectroscopic investigations of the (NSCl)3–SO2Cl2 system." Canadian Journal of Chemistry 68, no. 4 (April 1, 1990): 650–54. http://dx.doi.org/10.1139/v90-100.

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Solutions of (NSCl)3 in the presence of excess SO2Cl2 behave as a source of the synthetic equivalent "NSCl3" in reactions with methacrylonitrile or thioacetamide to give 4-cyanoisothiazole (78%) or 5-methyl-1,3,2,4-dithiadiazolium chloride (63%), respectively. In the reaction of this reagent with thiobenzamide both 5-phenyl-1,3,2,4-dithiadiazolium chloride (42%) and 3,5-diphenyl-1,2,4-thiadiazole (51%) are produced. The treatment of the (NSCl)3-SO2Cl2 system with 2-aminobenzenethiol yields 2,4-C6H3Cl2NSCl2, which is converted to 2,4-(C6H3Cl2N)2S upon heating at 80 °C in toluene or by reduction with Ph3Sb or mercury. The reaction of 2-aminobenzenethiol with excess SO2Cl2, in the absence of (NSCl)3, produces 2,4,6-C6H2Cl3NSCl2. Attempts to characterize the active species in the (NSCl)3-SO2Cl2 system by 14N and 33S nmr, Raman and infrared spectroscopy are also described. Keywords: cyclotrithiazyl chloride, isothiazole, dithiadiazolium, arylimidosulfurous dichloride, 14N nmr.

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Kadlec, Bohdan. "Alectinib in the treatment of advanced ALK + NSCLC." Onkologie 14, Suppl.E (September 25, 2020): 135–38. http://dx.doi.org/10.36290/xon.2020.073.

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Shen, Jia, Hailin Ma, Tiancheng Zhang, Hui Liu, Linghua Yu, Guosheng Li, Huishuang Li, and Meichun Hu. "Magnolol Inhibits the Growth of Non-Small Cell Lung Cancer via Inhibiting Microtubule Polymerization." Cellular Physiology and Biochemistry 42, no. 5 (2017): 1789–801. http://dx.doi.org/10.1159/000479458.

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Background: The tubulin/microtubule system, which is an integral component of the cytoskeleton, plays an essential role in mitosis. Targeting mitotic progression by disturbing microtubule dynamics is a rational strategy for cancer treatment. Methods: Microtubule polymerization assay was performed to examine the effect of Magnolol (a novel natural phenolic compound isolated from Magnolia obovata) on cellular microtubule polymerization in human non-small cell lung cancer (NSCLC) cells. Cell cycle analysis, mitotic index assay, cell proliferation assay, colony formation assay, western blotting analysis of cell cycle regulators, Annexin V-FITC/PI staining, and live/dead viability staining were carried out to investigate the Magnolol’s inhibitory effect on proliferation and viability of NSCLS cells in vitro. Xenograft model of human A549 NSCLC tumor was used to determine the Magnolol’s efficacy in vivo. Results: Magnolol treatment effectively inhibited cell proliferation and colony formation of NSCLC cells. Further study proved that Magnolol induced the mitotic phase arrest and inhibited G2/M progression in a dose-dependent manner, which were mechanistically associated with expression alteration of a series of cell cycle regulators. Furthermore, Magnolol treatment disrupted the cellular microtubule organization via inhibiting the polymerization of microtubule. We also found treatment with NSCLC cells with Magnolol resulted in apoptosis activation through a p53-independent pathway, and autophgy induction via down-regulation of the Akt/mTOR pathway. Finally, Magnolol treatment significantly suppressed the NSCLC tumor growth in mouse xenograft model in vivo. Conclusion: These findings identify Magnolol as a promising candidate with anti-microtubule polymerization activity for NSCLC treatment.

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Ghini, Veronica, Letizia Laera, Beatrice Fantechi, Francesca del Monte, Matteo Benelli, Amelia McCartney, Leonardo Tenori, Claudio Luchinat, and Daniele Pozzessere. "Metabolomics to Assess Response to Immune Checkpoint Inhibitors in Patients with Non-Small-Cell Lung Cancer." Cancers 12, no. 12 (November 30, 2020): 3574. http://dx.doi.org/10.3390/cancers12123574.

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In the treatment of advanced non-small cell lung cancer (NSCLC), immune checkpoint inhibitors have shown remarkable results. However, not all patients with NSCLC respond to this drug treatment or receive durable benefits. Thus, patient stratification and selection, as well as the identification of predictive biomarkers, represent pivotal aspects to address. In this framework, metabolomics can be used to support the discrimination between responders and non-responders. Here, metabolomics was used to analyze the sera samples from 50 patients with NSCL treated with immune checkpoint inhibitors. All the samples were collected before the beginning of the treatment and were analyzed by NMR spectroscopy and multivariate statistical analyses. Significantly, we show that the metabolomic fingerprint of serum acts as a predictive “collective” biomarker to immune checkpoint inhibitors response, being able to predict individual therapy outcome with > 80% accuracy. Metabolomics represents a potential strategy for the real-time selection and monitoring of patients treated with immunotherapy. The prospective identification of responders and non-responders could improve NSCLC treatment and patient stratification, thus avoiding ineffective therapeutic strategies.

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Lee, Seon-Hyeong, Yoon Jeon, Joon Hee Kang, Hyonchol Jang, Ho Lee, and Soo-Youl Kim. "The Combination of Loss of ALDH1L1 Function and Phenformin Treatment Decreases Tumor Growth in KRAS-Driven Lung Cancer." Cancers 12, no. 6 (May 28, 2020): 1382. http://dx.doi.org/10.3390/cancers12061382.

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Lung adenocarcinoma cells express high levels of ALDH1L1, an enzyme of the one-carbon pathway that catalyzes the conversion of 10-formyltetrahydrofolate into tetrahydrofolate and NAD(P)H. In this study, we evaluated the potential of ALDH1L1 as a therapeutic target by deleting the Aldh1l1 gene in KrasLA2 mice, a model of spontaneous non-small cell lung cancer (NSCLC). Reporter assays revealed KRAS-mediated upregulation of the ALDH1L1 promoter in human NSCLC cells. Aldh1l1−/− mice exhibited a normal phenotype, with a 10% decrease in Kras-driven lung tumorigenesis. By contrast, the inhibition of oxidative phosphorylation inhibition using phenformin in Aldh1l1−/−; KrasLA2 mice dramatically decreased the number of tumor nodules and tumor area by up to 50%. Furthermore, combined treatment with pan-ALDH inhibitor and phenformin showed a decreased number and area of lung tumors by 70% in the KrasLA2 lung cancer model. Consistent with this, previous work showed that the combination of ALDH1L1 knockdown and phenformin treatment decreased ATP production by as much as 70% in NSCLS cell lines. Taken together, these results suggest that the combined inhibition of ALDH activity and oxidative phosphorylation represents a promising therapeutic strategy for NSCLC.

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Suzuki, Y. "Expression of bHLH Transcription Factors NSCL1 and NSCL2 in the Mouse Olfactory System." Chemical Senses 28, no. 7 (September 1, 2003): 603–8. http://dx.doi.org/10.1093/chemse/bjg051.

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Havel, Libor. "Present status and perspectives of immunotherapy in NSCLC." Onkologie 10, no. 1 (March 1, 2016): 26–30. http://dx.doi.org/10.36290/xon.2016.007.

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Soleimani Babadi, Akbar, Arda Kiani, Esmaeil Mortaz, Kimia Taghavi, Adnan Khosravi, Majid Marjani, Sharareh Seifi, Habib Emami, and Atefeh Abedini. "Serum Interleukin-27 Level in Different Clinical Stages of Lung Cancer." Open Access Macedonian Journal of Medical Sciences 7, no. 1 (January 5, 2019): 45–49. http://dx.doi.org/10.3889/oamjms.2019.018.

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BACKGROUND: Advanced lung cancer is indicated with rapid disease development. Interleukin 27 (IL-27) is regarded as a cytokine with anti-tumour activities. AIM: Since, the impact of type of lung cancer on the level of IL-27 in patient’s serum has not yet been investigated; current study evaluated the clinical stages according to American Joint Committee on Cancer (AJCC) criteria, Tumor-Node-Metastasis (TNM) stage and the lung cancer spread (localized or widespread) and it's correlation with serum IL-27. MATERIAL AND METHODS: Thirty patients with confirmed histopathological lung cancer and 30 cancer-free healthy individuals as the control group were included in the current study. Patients group were assigned to either small cell lung cancer group (SCLC) or non-small cell lung cancer (NSCLC) according to the clinical features and the results of lung biopsy specimens. Level of IL-27 was quantified with enzyme-linked immunosorbent assay (ELISA) test in serum samples. RESULTS: A significant increase in serum IL-27 level was noticed in individuals with lung cancer in comparison with the control group. The level of serum IL-27 in the NSCL squamous carcinoma (NSCLC-Sc) type was significantly greater than in the NSCLC adenocarcinoma (NSCLC-Ad) type, and in both groups, this variable was more than the control group. The serum IL-27 content level was greater in stage III versus stage IV. CONCLUSION: The current research confirmed the existence of the anti-tumour components in patients with NSCLC. IL-27 can be utilised in diagnosis and screening in early stages of lung cancer along with the management of patients. Different levels of IL-27 in different types of lung cancers in the current study can lead to design more comprehensive studies in the future.

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Li, Yanhui, Su Dong, Arya Tamaskar, Heather Wang, Jing Zhao, Haichun Ma, and Yutong Zhao. "Proteasome Inhibitors Diminish c-Met Expression and Induce Cell Death in Non-Small Cell Lung Cancer Cells." Oncology Research Featuring Preclinical and Clinical Cancer Therapeutics 28, no. 5 (December 10, 2020): 497–507. http://dx.doi.org/10.3727/096504020x15929939001042.

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Non-small cell lung cancer (NSCLC) is the most common type of lung cancer and accounts for 85% of all lung carcinomas. The hepatocyte growth factor receptor (c-Met) has been considered as a potential therapeutic target for NSCLC. Proteasome inhibition induces cell apoptosis and has been used as a novel therapeutic approach for treating diseases including NSCLC; however, the effects of different proteasome inhibitors on NSCLC have not been fully investigated. The aim of this study is to determine a precise strategy for treating NSCLC by targeting c-Met using different proteasome inhibitors. Three proteasome inhibitors, bortezomib, MG132, and ONX 0914, were used in this study. Bortezomib (50 nM) significantly reduced c-Met levels and cell viability in H1299 and H441 cells, while similar effects were observed in H460 and A549 cells when a higher concentration (100 nM) was used. Bortezomib decreased c-Met gene expression in H1299 and H441 cells, but it had no effect in A549 and H460 cells. MG-132 at a low concentration (0.5 M) diminished c-Met levels in H441 cells, while neither a low nor a high concentration (20 M) altered c-Met levels in A549 and H460 cells. A higher concentration of MG-132 (5 M) was required for decreasing c-Met levels in H1299 cells. Furthermore, MG-132 induced cell death in all four cell types. Among all the four cell lines, H441 cells expressed higher levels of c-Met and appeared to be the most susceptible to MG-132. MG-132 decreased c-Met mRNA levels in both H1299 and H441 cells. ONX 0914 reduced c-Met levels in H460, H1299, and H441 cells but not in A549 cells. c-Met levels were decreased the most in H441 cells treated with ONX 0914. ONX 0914 did not alter cell viability in H441; however, it did induce cell death among H460, A549, and H1299 cells. This study reveals that different proteasome inhibitors produce varied inhibitory effects in NSCLS cell lines.

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Qu, Yanli, Huan Wang, Hangyu Liu, Xiaohu Sun, Ji Li, and Hong Yu. "Molecular Mechanism of Expression Changes of Immunological Indexes of PD-1/sPD-L1 after Radiotherapy in Nonsmall Cell Lung Cancer." BioMed Research International 2021 (April 20, 2021): 1–8. http://dx.doi.org/10.1155/2021/8811751.

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It is aimed at investigating the changes of serum soluble programmed death-ligand 1 (sPD-L1) expression level in nonsmall cell lung cancer (NSCLC) before and after radiotherapy, the correlation of PD-L1, PD-1, and proteins of Akt (protein kinase B), mTOR, and HIF-1α, and the molecular mechanism of the PD-1/PD-L1 pathway in the development of NSCLS. A total of 126 NSCLC patients receiving radiotherapy in Liaoning Cancer Hospital from September 2018 to September 2019 were selected as the observation group, and another 58 healthy volunteers were selected as the control group. NSCLC patients were divided into group A (stage I-II, stereotactic radiotherapy) and group B (stage III, intensity-modulated radiation therapy) according to the cancer stage. The efficacy of radiotherapy was evaluated, and sPD-L1 expression was detected by ELISA. The immunohistochemical staining was adopted to detect protein expressions of Akt, mTOR, and HIF-1α in NSCLC tissues. The correlation between their expression and expression of PD-L1 and PD-1 was analyzed. The results showed that the overall response rate (ORR) of group A was 89.29%, the clinical benefit response (CBR) was 96.43%, the median survival time (MST) was 25 months, and the survival rate within three years was 72.56%. In group B, the ORR was 70.41%, the CBR was 97.96%, the MST was 18 months, and the survival rate within three years was 34.67%. Comparison of overall serum sPD-L1 expression in the control group, group A, and group B and between groups before radiotherapy was statistically significant ( P < 0.01 ). After radiotherapy, serum sPD-L1 expression in group A and group B decreased compared with that before radiotherapy ( P < 0.01 ). Among NSCLC patients, the positive expression rate of Akt, mTOR, and HIF-1α was 71.32%, 41.26%, and 80.65%, respectively. PD-L1 expression and Akt, mTOR, and HIF-1α expression showed a significant correlation. PD1 expression and Akt, mTOR, and HIF-1α expression also showed a significant correlation. It indicated that the expression level of sPD-L1 in NSCLC patients was higher than that in normal subjects, but the expression level of sPD-L1 was decreased after radiotherapy. PD-1/PD-L1 may play important roles in NSCLC procession through the Akt/mTOR and HIF-1α pathway.

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Alcibar, Olwen Leaman, Ernest Nadal, Inmaculada Romero Palomar, and Arturo Navarro-Martin. "Systematic review of stereotactic body radiotherapy in stage III non-small cell lung cancer." Translational Lung Cancer Research 10, no. 1 (January 2021): 529–38. http://dx.doi.org/10.21037/tlcr-2020-nsclc-04.

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Farid, Saira, and Stephen V. Liu. "A narrative review of salvage therapy in small cell lung cancer." Precision Cancer Medicine 3 (September 2020): 20. http://dx.doi.org/10.21037/pcm-2019-nsclc-09.

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Svatoň, Martin. "Selected frequent special palliative procedures in NSCLC." Onkologie 14, no. 2 (June 2, 2020): 96–99. http://dx.doi.org/10.36290/xon.2020.018.

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Kultan, Juraj. "Pembrolizumab in treating an 82-year-old female patient with NSCLC." Onkologie 14, Suppl.A (June 2, 2020): 9–12. http://dx.doi.org/10.36290/xon.2020.028.

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Kubota, Kaoru. "Treatment Strategy for N2 Non-Small-Cell Lung Cancer:." Haigan 45, no. 3 (2005): 295–99. http://dx.doi.org/10.2482/haigan.45.295.

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Haas, Alexandra. "Dose escalation in the treatment of NSCLC with proton radiotherapy." Onkologie 16, no. 5 (September 29, 2022): 246–49. http://dx.doi.org/10.36290/xon.2022.046.

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Juncker-Jensen, Anna, Vivek Reddy, Erinn Parnell, Mate Levente Nagy, Judy Kuo, Eric Leones, Flora Sahafi, Nicholas Hoe, and Josette William. "Using a multiplexed immunofluorescence approach to compare immune cell populations in subtypes of non-small cell lung cancer." Journal of Clinical Oncology 37, no. 15_suppl (May 20, 2019): e20702-e20702. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.e20702.

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e20702 Background: Non-small cell lung cancer (NSCLC) accounts for approximately 80-85% of all lung cancer cases, and is characterized by a poor response to chemotherapy and a low survival rate. While immunotherapy has recently emerged as a successful approach in the treatment of NSCLC patients only 20-25% of patients show a positive response to anti-PD/PDL1 therapy, stressing the urgent need for additional immunotherapy options. NSCLC is a very heterogeneous disease with the two most common types being adenocarcinoma (ADCA) and squamous cell carcinoma (SCC). While a study using flow cytometry to analyze NSCLC on protein level reported the immune cell composition to be fundamentally different in ADCA compared with SCC (Daraselia et al. Am J Cancer Res, 2012 2(1):93), to the best of our knowledge this study will be the first of its kind performing an extensive analysis of NSCLS immune cell composition in tissue. Methods: In order to perform this comprehensive immunoprofiling of the NSCLC subtypes ADCA and SCC we will be using MultiOmyx™, an immunofluorescence (IF) multiplexing assay with similar staining characteristics as standard IHC stains but with the significant advantage that up to 60 protein biomarkers can be interrogated from a single FFPE section. Proprietary cell segmentation algorithms generate unique IDs for every cell and deep learning based cell classification algorithms then identify positive cells for each biomarker. Results: Using a 16-marker panel consisting of CD3, CD4, CD8, FoxP3, CD20, CD68, CD163, CD15, PD1, PDL1, ICOS, OX40, LAG-3, TIM-3, and PanCK we will analyze the proportion of B cells, T cell subtypes, M1/M2-type tumor-associated macrophages, as well as the expression of PD1/PDL1, in addition to novel immunotherapy targets LAG3, TIM3, ICOS, and OX40 in 20 samples from patients with NSCLC (10 ADCA and 10 SCC). Finally, from the same FFPE blocks that we will use to profile the immune cell composition on protein level we will also be extracting DNA/RNA in order to perform T cell receptor (TCR) sequencing, which will provide additional information on the diversity of T cells present in these tumors. Conclusions: It is our hope that these data will help provide new insights into the biology of ADCA and SCC that can ultimately be used to explore novel immunotherapeutic interventions for lung cancer treatment.

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Sanchez, Eduardo, Raul Rogelio Trejo Rosales, Yuly Andrea Remolina Bonilla, Juan José Sánchez Hernández, Amairany Guadalupe Vélez Martínez, Dulce Angelica De Jesus Hernandez, Miriam Najar, et al. "Driver mutations and air pollution in advanced non-small cell lung cancer (NSCLC) at two reference hospitals in Mexico City." Journal of Clinical Oncology 40, no. 16_suppl (June 1, 2022): e20545-e20545. http://dx.doi.org/10.1200/jco.2022.40.16_suppl.e20545.

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e20545 Background: Currently, precision medicine has allowed the classification of NSCLC according to the profile of driver mutations and the development of highly effective treatments. There is evidence to support the relationship between outdoor air pollution, particularly particulate matter (PM) in outdoor air, with lung cancer incidence and mortality. Smoking is a negative predictor of EGFR mutation, but the effect of air pollution has not been stablished. Methods: We perform a retrospective study in two referral hospitals in Mexico City between 2015 to 2020 to determinate the frequency of key driver mutations in patients with advanced NSCLC and the relation with smoking habit, wood smoke exposure and pollution indexes (PM2.5, PM10, SO2, O3, NO2) according to their place of residence. We used WHO air quality thresholds for air pollutants to classify cases with high or low exposure. Results: A total of 1277 cases were analyzed. The median age at diagnosis was 66 years (range 18-97 years), 53% were females and 49.6% had history of smoking habit. According to histology, 61.6% of cases corresponded to adenocarcinoma, 11.7% were squamous, 1.3% large cell, and 25.4% indeterminate. Wood smoke was assessed in 83.1% of cases and 28.5% had exposure history. Air pollutants were measured in half of cases, high level of exposure for PM2.5, PM10, NO2 and SO2 occurred in 63.2%, 30.8%, 15.6%, 53.4%, respectively. EGFR, ALK and KRAS mutations were evaluated in 85%, 16.7% and 8.6% of patients, respectively. The presence of these mutations was: EGFR 17.1%, ALK 11.1%, and KRAS 16.5%. Patients with EGFR-positive NSCLC were more frequently female (65.1% vs 34.9%, OR 1.8 95%CI 1.4-2.5, p < 0.001) and had no history of tobacco use (35% vs 65%, OR 0.49 95%CI 0.36-0.67, p < 0.001). Wood smoke was not statistically significant. High exposure to PM2.5 was most common in patients with non-mutated EGFR NSCLC (65.3% vs 34.7%, OR 1.7 95%CI 1.2-2.5, p = 0.006). Relationship with other air pollutants were not statistically significant. ALK-positive NSCLC patients tend to be females (68% vs 32%, p = 0.07) and had no history of smoking habit (20.8% vs 79.2% OR 0.28 95%CI 0.1-0.78, p = 0.01). High exposure to SO2 was common (78.6% vs 21.4% p = 0.05). Association in KRAS-positive NSCLS patients were not found. Conclusions: A low rate of key driver mutations assessment was found in this Mexican cohort. Clinical profile of NSCLC EGFR positive is according with previous reports in the literature. Exposure to PM2.5 and SO2 were found associated with EGFR and ALK status in this retrospective study and are hypothesis generating information.

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Journal articles on the topic 'NSCLP'

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