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1.
J Foot Ankle Surg ; 62(5): 899-903, 2023.
Article in English | MEDLINE | ID: mdl-37286098

ABSTRACT

Estimates of pes planus ("flatfoot") prevalence vary considerably across studies. Moreover, there is uncertainty over which factors are associated with the pes planus prevalence. We aimed to systematically review the prevalence and clinical factors associated with flatfoot among children and adults. We searched Web of Science, PubMed/MEDLINE, and Google Scholar databases reporting population-based flatfoot prevalence. Two reviewers independently extracted the data and assessed the qualities of the studies. Subgroup analysis was conducted to analyze the associated factors on flatfoot prevalence. Frequencies, odds ratios (OR), and 95% confidence intervals (CI) were performed using descriptive analysis and chi-square test accounting for heterogeneity. Any conflict in the data analysis was discussed by all the reviewers. Twelve studies including 2509 flatfoot cases were analyzed (overall prevalence 15.6%, n = 16,000). The subgroup analysis indicated that male gender (OR = 1.26, 95% CI: 1.15-1.37), age groups 3 to 5 years (OR = 2.02, 95% CI: 1.78-2.30) and 11 to 17 years (OR = 1.91, 95% CI: 1.64-2.22), Asian race (OR = 2.34, 95% CI: 2.10-2.60), and obesity (OR = 2.62, 95% CI: 2.06-3.32) were more associated with flatfoot (p < .001). Conversely, female gender (OR = 0.44, 95% CI: 0.40-0.48) and White race (OR = 0.52, 95% CI: 0.47-0.57) were less associated with flatfoot (p < .001). Our findings may be valuable for clinical/surgical settings, particularly, for those modifiable findings and targeted populations. However, we suggest that future studies estimating flatfoot should consider prospective/multicenter designs using a common screening methods in random samples populations.


Subject(s)
Flatfoot , Humans , Male , Child , Adult , Female , Child, Preschool , Flatfoot/diagnosis , Prevalence , Prospective Studies , Obesity/complications , Databases, Factual , Multicenter Studies as Topic
2.
Mol Genet Genomic Med ; 8(5): e1176, 2020 05.
Article in English | MEDLINE | ID: mdl-32163230

ABSTRACT

BACKGROUND: Genetic association studies for gastroschisis have highlighted several candidate variants. However, genetic basis in gastroschisis from noninvestigated heritable factors could provide new insights into the human biology for this birth defect. We aim to identify novel gastroschisis susceptibility variants by employing whole exome sequencing (WES) in a Mexican family with recurrence of gastroschisis. METHODS: We employed WES in two affected half-sisters with gastroschisis, mother, and father of the proband. Additionally, functional bioinformatics analysis was based on SVS-PhoRank and Ensembl-Variant Effect Predictor. The latter assessed the potentially deleterious effects (high, moderate, low, or modifier impact) from exome variants based on SIFT, PolyPhen, dbNSFP, Condel, LoFtool, MaxEntScan, and BLOSUM62 algorithms. The analysis was based on the Human Genome annotation, GRCh37/hg19. Candidate genes were prioritized and manually curated based on significant phenotypic relevance (SVS-PhoRank) and functional properties (Ensembl-Variant Effect Predictor). Functional enrichment analysis was performed using ToppGene Suite, including a manual curation of significant Gene Ontology (GO) biological processes from functional similarity analysis of candidate genes. RESULTS: No single gene-disrupting variant was identified. Instead, 428 heterozygous variations were identified for which SPATA17, PDE4DIP, CFAP65, ALPP, ZNF717, OR4C3, MAP2K3, TLR8, and UBE2NL were predicted as high impact in both cases, mother, and father of the proband. PLOD1, COL6A3, FGFRL1, HHIP, SGCD, RAPGEF1, PKD1, ZFHX3, BCAS3, EVPL, CEACAM5, and KLK14 were segregated among both cases and mother. Multiple interacting background modifiers may regulate gastroschisis susceptibility. These candidate genes highlight a role for development of blood vessel, circulatory system, muscle structure, epithelium, and epidermis, regulation of cell junction assembly, biological/cell adhesion, detection/response to endogenous stimulus, regulation of cytokine biosynthetic process, response to growth factor, postreplication repair/protein K63-linked ubiquitination, protein-containing complex assembly, and regulation of transcription DNA-templated. CONCLUSION: Considering the likely gene-disrupting prediction results and similar biological pattern of mechanisms, we propose a joint "multifactorial model" in gastroschisis pathogenesis.


Subject(s)
Exome , Gastroschisis/genetics , Genetic Loci , Adult , Female , Gastroschisis/diagnosis , Humans , Male , Middle Aged , Mutation , Pedigree
3.
Int J Mol Sci ; 20(9)2019 May 09.
Article in English | MEDLINE | ID: mdl-31075877

ABSTRACT

We investigated whether likely pathogenic variants co-segregating with gastroschisis through a family-based approach using bioinformatic analyses were implicated in body wall closure. Gene Ontology (GO)/Panther functional enrichment and protein-protein interaction analysis by String identified several biological networks of highly connected genes in UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10, AOX1, NOTCH1, HIST1H2BB, RPS3, THBS1, ADCY9, and FGFR4. SVS-PhoRank identified a dominant model in OR10G4 (also as heterozygous de novo), ITIH3, PLEKHG4B, SLC9A3, ITGA2, AOX1, and ALPP, including a recessive model in UGT1A7, UGT1A6, PER2, PTPRD, and UGT1A3. A heterozygous compound model was observed in CDYL, KDM5A, RASGRP1, MYBPC2, PDE4DIP, F5, OBSCN, and UGT1A. These genes were implicated in pathogenetic pathways involving the following GO related categories: xenobiotic, regulation of metabolic process, regulation of cell adhesion, regulation of gene expression, inflammatory response, regulation of vascular development, keratinization, left-right symmetry, epigenetic, ubiquitination, and regulation of protein synthesis. Multiple background modifiers interacting with disease-relevant pathways may regulate gastroschisis susceptibility. Based in our findings and considering the plausibility of the biological pattern of mechanisms and gene network modeling, we suggest that the gastroschisis developmental process may be the consequence of several well-orchestrated biological and molecular mechanisms which could be interacting with gastroschisis predispositions within the first ten weeks of development.


Subject(s)
Abdominal Wall/pathology , Computational Biology/methods , Gastroschisis/genetics , Genetic Variation , Gene Ontology , Humans , Inheritance Patterns/genetics , Protein Interaction Maps/genetics , Recurrence
4.
Pediatr Surg Int ; 34(9): 931-943, 2018 Sep.
Article in English | MEDLINE | ID: mdl-30094464

ABSTRACT

BACKGROUND: Gastroschisis has been assumed to have a low rate of syndromic and primary malformations. We aimed to systematically review and explore the frequency and type of malformations/chromosomal syndromes and to identify significant biological/genetic roles in gastroschisis. METHODS: Population-based, gastroschisis-associated anomalies/chromosomal defects published 1950-2018 (PubMed/MEDLINE) were independently searched by two reviewers. Associated anomalies/chromosomal defects and selected clinical characteristics were subdivided and pooled by race, system/region, isolated, and associated cases (descriptive analysis and chi-square test were performed). Critical regions/genes from representative chromosomal syndromes including an enrichment analysis using Gene Ontology Consortium/Panther Classification System databases were explored. Fisher's exact test with False Discovery Rate multiple test correction was performed. RESULTS: Sixty-eight articles and 18525 cases as a base were identified (prevalence of 17.9 and 3% for associated anomalies/chromosomal defects, respectively). There were 3596 associated anomalies, prevailing those cardiovascular (23.3%) and digestive (20.3%). Co-occurring anomalies were associated with male, female, American Indian, Caucasian, prenatally diagnosed, chromosomal defects, and mortality (P < 0.00001). Gene clusters on 21q22.11 and 21q22.3 (KRTAP), 18q21.33 (SERPINB), 18q22.1 (CDH7, CDH19), 13q12.3 (FLT1), 13q22.1 (KLF5), 13q22.3 (EDNRB), and 13q34 (COL4A1, COL4A2, F7, F10) were significantly related to biological processes: blood pressure regulation and/or vessel integrity, angiogenesis, coagulation, cell-cell and/or cell-matrix adhesion, dermis integrity, and wound healing (P < 0.05). CONCLUSIONS: Our findings suggest that gastroschisis may result from the interaction of several chromosomal regions in an additive manner as a pool of candidate genes were identified from critical regions supporting a role for vascular disruption, thrombosis, and mesodermal deficiency in the pathogenesis of gastroschisis.


Subject(s)
Gastroschisis/genetics , Abnormalities, Multiple , Chromosome Aberrations , Chromosomes, Human, Pair 13 , Chromosomes, Human, Pair 18 , Chromosomes, Human, Pair 21 , Humans
5.
Pediatr Surg Int ; 34(5): 505-514, 2018 May.
Article in English | MEDLINE | ID: mdl-29550988

ABSTRACT

BACKGROUND: Genes involved in gastroschisis have shown a strong interaction with environmental factors. However, less is known about its influence. We aimed to systematically review the genetic associations of gastroschisis, to summarize whether its genetic susceptibility has been restricted to the interaction with the environment, and to identify significant gaps that remain for consideration in future studies. METHODS: Genetic association studies of gastroschisis published 1980-2017 (PubMed/MEDLINE) were independently searched by two reviewers. Significant SNP-gastroschisis associations were grouped into crude and stratified risks, whereas SNPs were assessed from two or more independent studies. Frequencies, odds ratios, and 95% confidence intervals were pooled using descriptive analysis and Chi-square test accounting for heterogeneity. RESULTS: Seven eligible articles capturing associations of 14 SNPs from 10 genes for crude risk (including 10 and 4 SNPs with increased and decreased risk, respectively) and 30 SNPs from 14 genes for stratified risk in gastroschisis (including 37 and 14 SNPs with increased and decreased risk, respectively) were identified (Fisher's exact test, P = 0.438). The rs4961 (ADD1), rs5443 (GNB3), rs1042713, and rs1042714 (ADRB2) were significantly associated with gastroschisis. CONCLUSIONS: Genetic susceptibility in gastroschisis is not restricted to the interaction with the environment and should not be too narrowly focused on environmental factors. We found significant associations with four SNPs from three genes related to blood pressure regulation, which supports a significant role of vascular disruption in the pathogenesis of gastroschisis. Future studies considering gene-gene or gene-environmental interactions are warranted for better understanding the etiology of gastroschisis.


Subject(s)
Environment , Gastroschisis/genetics , Genetic Predisposition to Disease , Genetic Variation , Humans
6.
Pediatr Surg Int ; 34(3): 277-282, 2018 Mar.
Article in English | MEDLINE | ID: mdl-29335896

ABSTRACT

PURPOSE: There is uncertainty over whether familial recurrences in gastroschisis might be higher. Moreover, scant information is available regarding its sociodemographic features. We aim to explore the recurrence risk, sex-dependent influence, and geographical distribution of familial gastroschisis. METHODS: A systematic review of the literature and data extraction from population-based studies published 1970-2017 (PubMed/MEDLINE) was independently performed by two reviewers. Familial ocurrence of gastroschisis, whereas sociodemographic features from 11 studies were pooled including 862 probands as a base. A descriptive analysis and Chi-square test were performed. RESULTS: Twenty-four probands had a positive family history of gastroschisis including 49 affected family members, for a recurrence risk of 5.7 and 3% adjusted for proband. Siblings' recurrence was 4.3%. Sex-dependent influence analysis (n = 879, from three studies) evidenced an increased susceptibility to gastroschisis in males (2.5%) compared to females (1.3%) adjusted for proband. Heterogeneity was identified by Fisher's exact test (P = 0.023). CONCLUSION: Our findings support a greater liability attributable to familial factors on gastroschisis along with significant information for family and prenatal counseling. We suggest that future studies should include for a more accurate account for both familial and environmental confounding factors to uncover relatives and environmental exposures that more limited family histories may have missed.


Subject(s)
Gastroschisis/genetics , Genetic Predisposition to Disease , Gastroschisis/epidemiology , Humans , Recurrence , Risk , Sex Factors , Siblings
7.
J Pediatr Adolesc Gynecol ; 31(3): 232-237, 2018 Jun.
Article in English | MEDLINE | ID: mdl-29317257

ABSTRACT

STUDY OBJECTIVE: To explore the prevalence, mortality, and spatial distribution of gastroschisis using a large population-based sample with cases identified according to birth and death certificates (ICD-10 diagnosis code Q79.3, gastroschisis) through the General Directorate of Health Information of the Secretary Health of Mexico, over the course of a 15-year period. DESIGN, SETTING, PARTICIPANTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: A descriptive study examining 10,287 cases of gastroschisis was performed from 2000-2014 using public natality data for denominators (more than 25 million live births). Gastroschisis prevalence and mortality was calculated for each of year, state, maternal, and newborn characteristics. Spatial distribution was analyzed according to gastroschisis prevalence in the 32 states of Mexico. RESULTS: Gastroschisis prevalence was 4.01 per 10,000 live births (annual trend 2.09-6.85). Mortality associated with gastroschisis was 1.28 per 10,000 live births. Women younger than 20 years old, primiparae, and preterm infants had the highest gastroschisis-related prevalence (13.12, 5.83, and 7.51 per 10,000 live births, respectively). Gastroschisis prevalence and mortality did not differ according to newborn sex. A negative binomial distribution, variance (82,391.87) greater than the mean (321.47) was identified. CONCLUSION: Our findings show an increasing temporal trend for gastroschisis since 2000 in Mexico. Additionally, gastroschisis might follow in future instances a positive binomial or Poisson distribution. Therefore, improving surveillance of risk factors and supporting research for gastroschisis is warranted among maternal age younger than 25, particularly, younger than 20 years of age.


Subject(s)
Gastroschisis/epidemiology , Adult , Databases, Factual , Demography , Female , Gastroschisis/mortality , Humans , Infant , Infant, Newborn , Male , Mexico/epidemiology , Pregnancy , Prevalence , Risk Factors
8.
J Pediatr Surg ; 53(3): 521-524, 2018 Mar.
Article in English | MEDLINE | ID: mdl-28935396

ABSTRACT

PURPOSE: To evaluate the occurrence of gastroschisis attributable to familial factors in a Mexican population-based setting. METHODS: A descriptive study was performed among gastroschisis cases born from 2010 through 2016 at Tijuana General Hospital (Baja California, Mexico) to generate multigenerational pedigrees. RESULTS: There were 87 gastroschisis cases from 57,217 live births. Six probands (6.9%) had another affected family member. Two half-siblings, a set of monozygotic twins, a mother-and-daughter occurrence, a distant paternal cousin and a distant maternal uncle were identified. Sibling recurrence was 5.5%. From 174 males and 153 females studied (n=327, involving 180 nuclear families), sex-dependent influence analysis evidenced an increased susceptibility to gastroschisis in males (3.2%) compared to females (1.8%) with an overall of 2.5% adjusted for proband. CONCLUSIONS: Our results provide a greater liability attributable to familial factors on gastroschisis. In spite of the predominant sporadic occurrence, underlying genetic susceptibility and environmental influences point to a complex interplay between genes and environmental factors in gastroschisis. LEVEL OF EVIDENCE: Level IV.


Subject(s)
Gastroschisis/epidemiology , Gastroschisis/genetics , Genetic Predisposition to Disease , Family , Female , Humans , Male , Mexico/epidemiology , Pedigree , Pregnancy , Risk Factors , Twins, Monozygotic
9.
Pediatr Dev Pathol ; 20(5): 440-443, 2017.
Article in English | MEDLINE | ID: mdl-28812462

ABSTRACT

Pentalogy of Cantrell (PC) is characterized by midline supraumbilical abdominal wall defect, lower sternum defect, anterior diaphragmatic and pericardial defect, and congenital cardiac anomalies. Several etiological influences have been postulated, however, most of the reported cases are sporadic. In addition, evidence for mechanical teratogenesis in PC is limited. Here, we describe in one dichorionic twin with complete PC, additional severe intrauterine amputations (mainly head and neck) not previously reported resultant from mechanical teratogenesis. This morphologic constellation prompts us to emphasize the consideration of this etiological influence and provides further evidence. In fact, the pattern of anomalies in the affected fetus provides new insight into the severity and presentation of PC due to mechanical teratogenesis, which is a significant etiological consideration in clinical evaluation and implies that the syndrome involves a complex defective fetal development.


Subject(s)
Amniotic Band Syndrome/embryology , Diseases in Twins/embryology , Pentalogy of Cantrell/embryology , Twins, Dizygotic , Amniotic Band Syndrome/diagnosis , Amniotic Band Syndrome/pathology , Diseases in Twins/diagnosis , Diseases in Twins/pathology , Fetal Death , Humans , Male , Pentalogy of Cantrell/diagnosis , Pentalogy of Cantrell/pathology
10.
Int J Pediatr Otorhinolaryngol ; 85: 19-21, 2016 Jun.
Article in English | MEDLINE | ID: mdl-27240490

ABSTRACT

Otofaciocervical syndrome (OFCS) is a rare disorder characterized by facial, ear, branchial, and musculoskeletal anomalies, along with hearing loss and mild intellectual disability. Clinically, its distinction from branchiootorenal syndrome can be difficult. To date, the coexistence of OFCS and metachondromatosis has not been reported. Here, we describe a sporadic patient with both OFCS and metachondromatosis. This novel association prompts us to do some remarks on the clinical variability of branchial-arch disorders; in fact, our observations are consistent with the highly variable expressivity of OFCS and illustrate the need of a more accurate characterization of these branchial-arch disorders. In the meantime, involvement of clavicles, scapulae and shoulders remains a distinctive feature of OFCS.


Subject(s)
Bone Neoplasms/complications , Branchio-Oto-Renal Syndrome/complications , Chondromatosis/complications , Exostoses, Multiple Hereditary/complications , Bone Neoplasms/diagnostic imaging , Brachydactyly/diagnostic imaging , Brachydactyly/etiology , Branchio-Oto-Renal Syndrome/diagnostic imaging , Child, Preschool , Chondromatosis/diagnostic imaging , Exostoses, Multiple Hereditary/diagnostic imaging , Female , Fused Kidney/diagnostic imaging , Fused Kidney/etiology , Humans , Neuropeptides , Radiography , Scoliosis/diagnostic imaging , Scoliosis/etiology , Tomography, X-Ray Computed
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