Association between 10 Microsatellite Markers and Nonsyndromic Cleft Lip Palate in the Chilean Population

2004 ◽  
Vol 41 (2) ◽  
pp. 163-167 ◽  
Author(s):  
Rafael Blanco ◽  
José Suazo ◽  
JoséLuis Santos ◽  
Mónica Paredes ◽  
Hsiao Sung ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Statistical Significance ◽  
Positive Family History ◽  
Case Control ◽  
University Hospital ◽  
Control Group ◽  
Exact Test ◽  
Rehabilitation Centers ◽  
Cleft Lip Palate ◽  
Chilean Population

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.

scholarly journals A Comparative Study of Facial Asymmetry in Philippine, Colombian, and Ethiopian Families with Nonsyndromic Cleft Lip Palate

2012 ◽  
Vol 2012 ◽  
pp. 1-6 ◽  
Author(s):  
Liliana Otero ◽  
Luis Bermudez ◽  
Karina Lizarraga ◽  
Irene Tangco ◽  
Rocelyn Gannaban ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Statistical Significance ◽  
Facial Asymmetry ◽  
Control Group ◽  
Study Group ◽  
Middle Line ◽  
Cleft Lip Palate ◽  
Left And Right ◽  
Directional Asymmetries ◽  
Facial Differences

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.

P0203EARLY DETECTION OF BREAST ARTERIAL CALCIFICATION IN DIFFERENT STAGES OF CHRONIC KIDNEY DISEASE PATIENTS

2020 ◽  
Vol 35 (Supplement_3) ◽  
Author(s):  
Basma Sultan ◽  
Hamdy Omar ◽  
Housseini Ahmed ◽  
Mahmoud Elprince ◽  
Osama Anter adly ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Lipid Profile ◽  
Statistical Significance ◽  
University Hospital ◽  
Arterial Calcification ◽  
Control Group ◽  
Inpatient Ward ◽  
Stage 4 ◽  
Ckd Stage

Abstract Background and Aims Vascular calcification (VC) plays a major role in cardiovascular disease (CVD), which is one of the main causes of mortality in patients with chronic kidney disease (CKD). The study aims at early detection of breast arterial calcification (BAC) in different stages of CKD (stage 2, 3& 4) patients as an indicator of systemic VC. Method A case control study was conducted targeting CKD women, aged 18- 60 years old. The sample was divided into 3 groups; A,B,C (representing stage 2, 3 & 4 of CKD) from women who attended nephrology and Internal medicine clinics and admitted in inpatient ward in Suez Canal University Hospital. A 4th group (D) was formed as a control group and included women with normal kidney functions (each group (A, B, C, D) include 22 women). The selected participants were subjected to history taking, mammogram to detect BAC and biochemical assessment of lipid profile, Serum creatinine (Cr), Mg, P, Ca, PTH and FGF23. Results Our study detected presence of BAC in about 81.8% of hypertensive stage 4 CKD patients compared with 50% in stage 3 CKD, also in the majority of stage 4 CKD patients who had abnormal lipid profile parameters and electrolyte disturbance. Most of the variables had statistical significance regarding the presence of BAC. Conclusion Although it is difficult to determine the definite stage at which the risk of VC begins but in our study, it began late in stage 2 CKD, gradually increased prevalence through stage 3 and became significantly higher in stage 4. These results suggest that preventive strategies may need to begin as early as stage 2 CKD.

scholarly journals Vitamin D levels in children with COVID-19: a report from Turkey

2021 ◽  
Vol 149 ◽  
Author(s):  
Aysegul Alpcan ◽  
Serkan Tursun ◽  
Yaşar Kandur
Keyword(s):  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Statistical Significance ◽  
Serum Vitamin ◽  
University Hospital ◽  
Control Group ◽  
Serum Vitamin D ◽  
Vitamin D Levels ◽  
Normal Vitamin ◽  
The Mean

Abstract Several studies have demonstrated that higher levels of vitamin D are associated with better prognosis and outcomes in infectious diseases. We aimed to compare the vitamin D levels of paediatric patients with mild/moderate coronavirus disease 2019 (COVID-19) disease and a healthy control group. We retrospectively reviewed the medical records of patients who were hospitalised at our university hospital with the diagnosis of COVID-19 during the period between 25 May 2020 and 24 December 2020. The mean age of the COVID-19 patients was 10.7 ± 5.5 years (range 1–18 years); 43 (57.3%) COVID-19 patients were male. The mean serum vitamin D level was significantly lower in the COVID-19 group than the control group (21.5 ± 10.0 vs. 28.0 ± 11.0 IU, P < 0.001). The proportion of patients with vitamin D deficiency was significantly higher in the COVID-19 group than the control group (44% vs. 17.5%, P < 0.001). Patients with low vitamin D levels were older than the patients with normal vitamin D levels (11.6 ± 4.9 vs. 6.2 ± 1.8 years, P = 0.016). There was a significant male preponderance in the normal vitamin D group compared with the low vitamin D group (91.7% vs. 50.8%, P = 0.03). C-reactive protein level was higher in the low vitamin D group, although the difference did not reach statistical significance (9.6 ± 2.2 vs. 4.5 ± 1.6 mg/l, P = 0.074). Our study provides an insight into the relationship between vitamin D deficiency and COVID-19 for future studies. Empiric intervention with vitamin D can be justified by low serum vitamin D levels.

Screening of IRF6 Variants in Patients Subjected to Genetic Association Studies for Nonsyndromic Cleft Lip/Palate

2020 ◽  
pp. 105566562098023
Author(s):  
José A. Velázquez-Aragón ◽  
Ariadna González-del Angel ◽  
Miguel A. Alcántara-Ortigoza ◽  
Miriam E. Reyna-Fabián ◽  
Bernardette Estandia-Ortega
Keyword(s):  
Association Study ◽  
Cleft Lip ◽  
Diagnostic Yield ◽  
Association Studies ◽  
Tertiary Care ◽  
Case Series ◽  
Case Control ◽  
Retrospective Case ◽  
Cleft Lip Palate ◽  
Control Association

Objective: To screen for interferon regulatory factor 6 (IRF6) pathogenic variants in patients clinically diagnosed with nonsyndromic cleft lip palate (NSCL/P) and establish the proportion of misdiagnosed Van der Woude syndrome (VWS) cases, which could have biased previous NSCL/P case–control association studies. Design: Retrospective case series. Setting: Tertiary care children’s hospital. Participants: One hundred seventy-two unrelated Mexican patients with NSCL/P, 128 of whom had previously been included in a NSCL/P case–control association study. Main Outcomes Measurements: Sanger sequencing of the 9 IRF6 exons were performed, all variants respect with sequence reference were reported and classified for their pathogenic significance according to the American College of Medical Genetics and Genomics guidelines. Results: Seven percent of cases were familial. No pathogenic variant was identified in IRF6. We identified 12 previously reported benign variants; their frequencies did not significantly differ from those reported for individuals of Mexican ancestry. Three of them were uncommon intronic variants not reported in ClinVar. The rs2235371 and rs2235375 variants, which were previously analyzed in a NSCL/P case–control association study (containing 132 patients, 128 of whom were analyzed herein) did not show discordant association results comparing to the 370 controls from the previous study. Conclusions: The misdiagnosis of IRF6-related VWS as NSCL/P appears to be infrequent in our sample, suggesting that mutational screening of IRF6 would have a low diagnostic yield in patients with NSCL/P. The absence of IRF6 pathogenic alleles could be related to the application of an exhaustive clinical evaluation that discarded the syndromic forms and/or the low proportion of familial cases included.

P0080INTERLEUKIN-17A GENE POLYMORPHISM (RS2275913G>A) IN SLE PATIENTS

2020 ◽  
Vol 35 (Supplement_3) ◽  
Author(s):  
Nehal Atef elshabrawy ◽  
Hussein Sheashaa ◽  
Adel L Abdelsalam ◽  
Ahmed Mohammed Abd El Wahab
Keyword(s):  
Lupus Nephritis ◽  
Gene Polymorphism ◽  
Inflammatory Diseases ◽  
Statistical Significance ◽  
Group Versus ◽  
University Hospital ◽  
Control Group ◽  
Cross Sectional ◽  
Dsdna Antibody ◽  
Significant Difference

Abstract Background and Aims There are six IL-17-family ligands [IL-17A, IL-17B, IL-17C, IL-17D, IL-17E (IL-25) and IL-17F]. Interleukin-17A (IL-17A) also commonly called IL-17, is produced by the T helper17 (Th17) subset of CD4+ T cells.Interleukin-17 and other Th17 cytokines are linked to the pathogenesis of diverse autoimmune and inflammatory diseases. IL-17A is detected in synovial fluids and synovium from RA patients and induces proinflammatory cytokine production from synoviocytes, also expression of IL-17A was higher in SLE patients and its level positively correlated with the severity of lupus nephritis, because of its contribution to increasing anti-double-stranded DNA (dsDNA) antibody production in SLE. The aim of the present study is to determine the IL-17A gene polymorphism (rs2275913 G&gt;A) frequency in patients with SLE and lupus nephritis, and to determine the association of this polymorphism with the disease activity. Method This cross-sectional, observational, case control study was carried out on 50 females patients, with their age ranged from 15 to 50 years (mean 25.67±9.29 years) with SLE attending Mansoura University Hospital .A control group of 50 healthy females of matched age were also included. The patient group was subdivided into patients with and those without lupus Nephritis (35 and 15 patients, respectively). Lupus nephritis was confirmed by renal biopsy. All patients were subjected to a thorough clinical evaluation and routine laboratory tests. SLEDAI score was calculated for all patients to determine the degree of lupus activity. DNA extraction was performed for all patients as well as controls, One SNPs of IL-17A (rs2275913G&gt;A) was genotyped utilizing PCR- RFLP technique. Results The frequency of rs2275913 A allele was significantly higher in SLE patients than the control group (34.0% vs. 21.0%, respectively; p=0.04, OR =1.9, 95%CI =1.03-3.65). While G allele was significantly higher in control group, (P=0.04)). Moreover, AA genotype was significantly higher in the SLE patients than in the control group (8.0% vs. 0.0%, respectively; p=0.036) and associated with higher SLEDAI, ANA, and anti-dsDNA antibodies titer, (P=0.03, P=.039, P=0.047 respectively).on the other hand there was no significant difference in GG and GA genotypes in the SLE patients versus the control group. The frequency of both genotype GA and AA was higher in the SLE patients than the controls (60% vs. 42%, respectivley; OR=2.07, CI-95%=0.9-5.59); although the difference was not statistically significant (P= 0.07).Although A allele was numerically higher in lupus nephritis group versus non nephritis group(37.0% vs 27.0%, respectively), the Analysis of the frequency of IL-17A rs2275913 alleles and genotypes showed no statistical differences between the two groups. Moreover there was no statistical significance between different genotypes in cases of nephritis regard lupus nephritis class (P=0.9) and no statistical significance between different genotypes (GG-GA-AA) regarding activity indices (AI) or chronicity indices (CI) in lupus nephritis group (P=0.18, P=0.56 respectively). Conclusion We suggest that there was a significant association between IL-17A rs2275913 G&gt;A polymorphism and SLE, as A allele and AA genotype were increased in SLE patients, lupus nephritis especially those with high activity

Effect of Presurgical Nasoalveolar Molding on Nasal Symmetry in Unilateral Complete Cleft Lip/Palate Patients after Primary Cheiloplasty without Concomitant Nasal Cartilage Dissection

2018 ◽  
Vol 55 (7) ◽  
pp. 935-940 ◽  
Author(s):  
Zhigang Liang ◽  
Jinfeng Yao ◽  
Philip K.T. Chen ◽  
Cangshang Zheng ◽  
Jiying Yang
Keyword(s):  
Repeated Measures ◽  
Cleft Lip ◽  
Early Stage ◽  
Statistical Significance ◽  
Deformity Correction ◽  
Nasal Cartilage ◽  
Significant Difference ◽  
Cleft Lip Palate ◽  
Nasoalveolar Molding

Objective: The objective of this study was to assess the efficacy of presurgical nasoalveolar molding (PNAM) on long-term nasal symmetry and shaping after primary cheiloplasty in patients with unilateral complete cleft lip/palate (UCL/P). Design: This was a two-group, parallel, retrospective, randomized clinical trial. Setting: The setting for this study was the Chang Gung Craniofacial Center in Taoyuan, Taiwan. Patients: Patients were divided into one of the following two groups: infants with UCL/P who underwent PNAM (PNAM group, n = 42) and infants with UCL/P who did not undergo PNAM (non-PNAM group, n = 42). Interventions: Interventions included PNAM and primary cheiloplasty without nasal cartilage dissection. Main Outcome Measures: In this study, 4- to 5-year postoperative full-face and submental oblique photographs were taken of all patients and scored from 1 to 5 points by 10 medical evaluators. The scores were statistically analyzed using repeated-measures analysis of variance, and P < .05 was considered to represent statistical significance. Results: After 1 to 3 months of PNAM but before primary cheiloplasty, the displaced nasal and alveolar cartilage showed obvious improvement. However, the scores in the PNAM and non-PNAM groups at 4 to 5 years postoperatively were 66.62 ± 14.25 and 66.31 ± 15.08, respectively. There was no significant difference between the two groups ( F = 0.009, P = .923). Conclusion: PNAM as an early-stage adjunctive therapy for nasal deformity correction is beneficial before primary cheiloplasty, but it is insufficient to maintain long-term nostril symmetry after primary cheiloplasty without nasal cartilage dissection.

Pattern of Cleft Lip and Palate in Hospital-Based Population in Saudi Arabia: Retrospective Study

2008 ◽  
Vol 45 (6) ◽  
pp. 592-596 ◽  
Author(s):  
Aziza Aljohar ◽  
Kandasamy Ravichandran ◽  
Shazia Subhani
Keyword(s):  
Saudi Arabia ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Tertiary Care ◽  
Positive Family History ◽  
Care Hospital ◽  
Associated Anomalies ◽  
Cleft Lip Palate ◽  
Isolated Cleft Palate

Objective: To report the patterns of cleft lip and/or cleft palate in Saudi Arabia from data collected at a tertiary care hospital. Design and Setting: King Faisal Specialist Hospital and Research Center, Riyadh. Patients: All the cleft lip and/or cleft palate patients registered in the Cleft Lip/Palate and Craniofacial Anomalies Registry from June 1999 to December 2005. Results: Retrospectively, 807 cases of cleft lip and/or palate were registered. There were 451 boys and 356 girls. Cleft lip and palate was more common (387) than isolated cleft palate (294) and isolated cleft lip (122). Boys predominated in cleft lip and palate and cleft lip; whereas, girls predominated in isolated cleft palate, with boy to girl ratios of 1.6:1, 1.2:1, and 0.9:1 for cleft lip and/or palate, isolated cleft lip, and isolated cleft palate, respectively. The Riyadh region had more cases (32.0%) than the Asir (15.6%) and Eastern (14.6%) regions. Parents of 439 individuals had consanguineous marriages. A positive family history of cleft was seen in 224 cases. Of 238 cases with associated anomalies, 91 had congenital heart disease. Of the children with isolated cleft palate, 40.5% had associated anomalies, whereas only 23.0% of the children with isolated cleft lip or cleft lip and palate had associated malformations. Conclusion: The pattern of cleft observed in this study does not differ significantly from those reported in the literature for Arab populations.

Tomographic Pharyngeal Dimensions in Individuals with Unilateral Cleft Lip/Palate and Class III Malocclusion are Reduced When Compared with Controls

2017 ◽  
Vol 54 (5) ◽  
pp. 502-508 ◽  
Author(s):  
Trindade-Suedam Ivy Kiemle ◽  
Freire Lima Thiago ◽  
Dominguez Campos Letícia ◽  
Faria Yaedú Renato Yassutaka ◽  
Filho Hugo Nary ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Outcome Measure ◽  
Cleft Lip And Palate ◽  
Cone Beam ◽  
Control Group ◽  
Craniofacial Anomalies ◽  
Class Iii ◽  
Class Iii Malocclusion ◽  
Cross Sectional ◽  
Cleft Lip Palate

Objective The objective of this study was to three-dimensionally evaluate the pharyngeal dimensions of individuals with complete nonsyndromic unilateral cleft lip and palate (UCLP) using cone beam computed tomography. Design This was a cross-sectional prospective study. Setting The study took place at the Laboratory of Physiology, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru-SP, Brazil. Patients and Participants The control group (CON) consisted of 23 noncleft adults with class III malocclusion, and the cleft group (UCLP) consisted of 22 individuals with UCLP and class III malocclusion. Two subgroups of individuals with class III malocclusion as a result of maxillary retrusion with (UCLP'; n = 19) and without (CON'; n = 8) clefts were also assessed. Interventions Pharyngeal volume, pharyngeal minimal cross-sectional area (CSA), location of CSA, pharyngeal length, sella-nasion-A point angle (SNA), sella-nasion-B point angle (SNB), and A point-nasion-B point angle (ANB), and body mass index were assessed using Dolphin software. Main Outcome Measure The pharyngeal dimensions of UCLP individuals are smaller when compared with controls. Results Mean pharyngeal volume (standard deviation) for the UCLP patients (20.8 [3.9] cm3) and the UCLP’ patients (20.3 [3.9] cm3) were significantly decreased when compared with the CON (28.2 [10.0] cm3) and CON’ patients (29.1 [10.2] cm3), respectively. No differences were found in the pharyngeal minimal CSA, ANB, or pharyngeal length values between groups (CON versus UCLP and CON’ versus UCLP'). CSAs were located mostly at the oropharynx, except in the UCLP’ patients, which were mainly at the hypopharynx. Mean SNA in the UCLP (76.4° [4.6°]) and UCLP’ groups (75.1 [3.1°]) were significantly smaller than those in the CON (82.8° [4.1°]) and CON’ groups (78.6° [1.2°]). SNB values were statistically smaller only for the comparison of CON versus UCLP patients. Conclusion The pharynx of individuals with UCLP and class III malocclusion is volumetrically smaller than that of individuals with class III malocclusion and no clefts.

No Evidence for Linkage and Association between 4q Microsatellite Markers and Nonsyndromic Cleft Lip and Palate in Chilean Case-Parents Trios

2005 ◽  
Vol 42 (3) ◽  
pp. 267-271 ◽  
Author(s):  
Rafael Blanco ◽  
José Suazo ◽  
JoséLuis Santos ◽  
Hernán Carreño ◽  
Hernán Palomino ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Microsatellite Markers ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Association Studies ◽  
Statistical Significance ◽  
P Value ◽  
Genetic Trait ◽  
Multiple Alleles ◽  
Cleft Lip Palate

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.

Neonatal Care of Infants with Cleft Lip and/or Palate: Feeding Orientation and Evolution of Weight Gain in a Nonspecialized Brazilian Hospital

2007 ◽  
Vol 44 (3) ◽  
pp. 329-334 ◽  
Author(s):  
Lívia Gobby Amstalden-Mendes ◽  
Luis Alberto Magna ◽  
Vera Lúcia Gil-da-Silva-Lopes
Keyword(s):  
Weight Gain ◽  
Surgical Procedure ◽  
Cleft Lip ◽  
Tertiary Hospital ◽  
Postnatal Period ◽  
Rehabilitation Centers ◽  
Spontaneous Reports ◽  
Cleft Lip Palate ◽  
Feeding Resources

Objectives: To survey the feeding orientation received during the postnatal period by the parents of cleft babies, as well as the location where they receive the orientation; to identify resources used in feeding; and to assess the correlation of the child's weight with the surgical procedure schedule. Design: During consultation for diagnosis and genetic counseling in a general tertiary hospital, 26 parents of cleft babies born in different hospitals were interviewed based on a semistructured protocol and spontaneous reports. Results: Cleft palate was present in 42.31% (11/26), cleft lip/palate in 50% (13/26), and cleft lip in 7.69% (2/26) of the cases. Feeding orientation was given in maternities to 72% (18/25) and in specific rehabilitation centers to 24% (6/ 25) of the parents. Breast-feeding was encouraged in every case. Nevertheless, other feeding resources were necessary, especially bottles. Surgical procedure delays caused by poor weight gain occurred in 66.7% (12/18). Conclusions: Neonatal feeding orientation was not systematically given in every case. Because it is an important way to achieve an effective weight gain, educational programs for nonspecialized health professionals, as well as regular pediatric follow-up and specialized multi-professional teams, could improve nutritional intake and could move the schedule for surgical procedures forward. The results also suggest that specific neonatal health care for cleft babies should be part of health policy.

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