ABSTRACT
Nonsyndromic orofacial clefting (nsOFC) is a common, complex congenital disorder. The most frequent forms are nonsyndromic cleft lip with or without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO). Although they are generally considered distinct entities, a recent study has implicated a region around the FOXE1 gene in both nsCL/P and nsCPO. To investigate this hypothesis, we analyzed the 2 most strongly associated markers (rs3758249 and rs4460498) in 2 independent samples of differing ethnicities: Central European (949 nsCL/P cases, 155 nsCPO cases, 1163 controls) and Mayan Mesoamerican (156 nsCL/P cases, 10 nsCPO cases, 338 controls). While highly significant associations for both single-nucleotide polymorphisms were obtained in nsCL/P (rs4460498: p Europe = 6.50 × 10(-06), p Mayan = .0151; rs3758249: p Europe = 2.41 × 10(-05), p Mayan = .0299), no association was found in nsCPO (p > .05). Genotyping of rs4460498 in 472 independent European trios revealed significant associations for nsCL/P (p = .016) and nsCPO (p = .043). A meta-analysis of all data revealed a genomewide significant result for nsCL/P (p = 1.31 × 10(-08)), which became more significant when nsCPO cases were added (p nsOFC = 1.56 × 10(-09)). These results strongly support the FOXE1 locus as a risk factor for nsOFC. With the data of the initial study, there is now considerable evidence that this locus is the first conclusive risk factor shared between nsCL/P and nsCPO.
Subject(s)
Cleft Lip/genetics , Cleft Palate/genetics , Forkhead Transcription Factors/genetics , Genetic Variation/genetics , Case-Control Studies , Chromosome Mapping , Ethnicity/genetics , Female , Genes, Recessive/genetics , Genotype , Homozygote , Humans , Indians, Central American/genetics , Linkage Disequilibrium/genetics , Male , Models, Genetic , Phenotype , Polymorphism, Single Nucleotide/genetics , Risk Factors , White People/geneticsSubject(s)
Cervix Uteri/metabolism , Fibronectins , Glycoproteins/analysis , Obstetric Labor, Premature/diagnosis , Vagina/metabolism , Adrenal Cortex Hormones/therapeutic use , Adult , Anti-Bacterial Agents/therapeutic use , Birth Weight , Female , Fetal Death/diagnosis , Fetal Death/etiology , Gestational Age , Humans , Infant, Newborn , Obstetric Labor, Premature/prevention & control , Predictive Value of Tests , Pregnancy , Sensitivity and Specificity , Tocolytic Agents/therapeutic useSubject(s)
Humans , Female , Pregnancy , Infant, Newborn , Adult , Cervix Uteri , Glycoproteins/analysis , Obstetric Labor, Premature , Vagina , Adrenal Cortex Hormones , Anti-Bacterial Agents/therapeutic use , Birth Weight , Fetal Death , Gestational Age , Obstetric Labor, Premature , Predictive Value of Tests , Sensitivity and Specificity , Tocolytic Agents/therapeutic useABSTRACT
BACKGROUND: Campylobacter upsaliensis can cause gastroenteritis and bacteremia. Data on its epidemiology and role in pediatric gastroenteritis are limited. OBJECTIVE: To describe the incidence and clinical features of enteric C. upsaliensis infection in children and to compare these with similar data for Campylobacter jejuni. DESIGN AND METHODS: Medical records of all patients with enteric C. upsaliensis infection between 1992 and 1999 at the Royal Children's Hospital, Melbourne, were reviewed. A case-control study (age-matched 1:2) was performed to compare the severity of clinical disease and associated risk factors for infection with C. upsaliensis and C. jejuni. RESULTS: Of 18,516 specimens 666 (3.6%) were positive for C. jejuni and 19 (0.1%) were positive for C. upsaliensis. Records were available for 18 patients with C. upsaliensis gastroenteritis (mean age, 1.6 years; median age, 1.3 years; range, 3 months to 7 years; 14 male). Eleven patients (61%) presented with acute and 7 (39%) with chronic or intermittent diarrhea. The case-control study showed that fever (P = 0.03), acute diarrhea (P = 0.05) and rectal bleeding (P = 0.0006) were significantly less common in C. upsaliensis than in C. jejuni infection. CONCLUSION: C. upsaliensis is a rare cause of gastroenteritis in young children and, compared with C. jejuni infection, is associated with significantly lower rates of fever, acute diarrhea and rectal bleeding.
Subject(s)
Campylobacter Infections/epidemiology , Campylobacter/pathogenicity , Gastroenteritis/microbiology , Campylobacter Infections/complications , Case-Control Studies , Child , Child, Preschool , Diarrhea/etiology , Female , Gastroenteritis/epidemiology , Gastrointestinal Hemorrhage/etiology , Humans , Incidence , Infant , Male , Risk FactorsABSTRACT
Complete duplication of the entire large bowel with partial ileal involvement is very rare and diagnosis can often be difficult as illustrated by this case report. We also review the other clinical associations of this rare condition and briefly discuss the embryology of duplications of the gastrointestinal tract.
