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Structural and numerical changes of chromosome X in patients with esophageal atresia.

ABSTRACT: Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is a relatively common birth defect often associated with additional congenital anomalies such as vertebral, anal, cardiovascular, renal and limb defects, the so-called VACTERL association. Yet, little is known about the causal genetic factors. Rare case reports of gastrointestinal anomalies in children with triple X syndrome prompted us to survey the incidence of structural and numerical changes of chromosome X in patients with EA/TEF. All available (n=269) karyotypes of our large (321) EA/TEF patient cohort were evaluated for X-chromosome anomalies. If sufficient DNA material was available, we determined genome-wide copy number profiles with SNP array and identified subtelomeric aberrations on the difficult to profile PAR1 region using telomere-multiplex ligation-dependent probe amplification. In addition, we investigated X-chromosome inactivation (XCI) patterns and mode of inheritance of detected aberrations in selected patients. Three EA/TEF patients had an additional maternally inherited X chromosome. These three female patients had normal random XCI patterns. Two male EA/TEF patients had small inherited duplications of the XY-linked SHOX (Short stature HOmeoboX-containing) locus. Patients were small for gestational age at birth (

SUBMITTER: Brosens E

PROVIDER: S-EPMC4135408 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature

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Structural and numerical changes of chromosome X in patients with esophageal atresia.

Brosens Erwin E de Jong Elisabeth M EM Barakat Tahsin Stefan TS Eussen Bert H BH D'haene Barbara B De Baere Elfride E Verdin Hannah H Poddighe Pino J PJ Galjaard Robert-Jan RJ Gribnau Joost J Brooks Alice S AS Tibboel Dick D de Klein Annelies A

European journal of human genetics : EJHG 20140108 9

Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is a relatively common birth defect often associated with additional congenital anomalies such as vertebral, anal, cardiovascular, renal and limb defects, the so-called VACTERL association. Yet, little is known about the causal genetic factors. Rare case reports of gastrointestinal anomalies in children with triple X syndrome prompted us to survey the incidence of structural and numerical changes of chromosome X in patients wi ...[more]

PMID: 24398799

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Project description:Introduction: Primary repair of esophageal atresia (EA) in infants with very low birth weight (VLBW) and extremely low birth weight (ELBW) has been widely performed in pediatric surgery. However, several studies have shown that complication rates in infants with VLBW are high. We hypothesize preterm children benefit from a shorter, less-traumatizing operation in the first days of life, as staged repair implies. Methods: Patients with EA and VLBW were retrieved from the database of a large national patient organization KEKS e.V. Structured questionnaires were sent to all the patients' families; the responses were pseudonymized and sent to our institution. Results: Forty-eight questionnaires from patients were analyzed. The mean birth weight was 1,223 g (720-1,500 g). Primary repair was performed in 25 patients (52%). Anastomotic insufficiency (AI) was reported in 9 patients (19%), recurrent fistula (RF) in 8 (17%), and anastomotic stenosis in 24 patients (50%). Although AI was almost twice as common after primary repair than after staged repair (24 vs. 13%; p = 0.5), the difference was not statistically significant. RF was more frequent after primary repair (28 vs. 4%; p = 0.04), gastroesophageal reflux was more frequent in the group after staged repair (78 vs. 52%; p = 0.04), and both correlations were statistically significant. Intracranial hemorrhage (ICH) was reported in 11 patients (23%) and was observed in 7 of them (64%, p = 0.4) after primary repair. ICH was reported in 60% of patients with ELBW and 75% of patients when ELBW was paired with primary repair. Conclusion: This study demonstrates the complication rate in patients with VLBW is higher than the average of that in patients with EA. The study indicates that a staged approach may be an option in this specific patient group, as less RF and AI are seen after staged repair. ICH rate in patients with ELBW seemed to be especially lower after staged repair. Interestingly, gastroesophageal reflux was statistically significantly higher in the group after staged repair, and postoperative ventilation time was longer. It is therefore necessary to individually consider which surgical approach is appropriate for this special patient group.

Project description:BackgroundPatients following repair of an esophageal atresia (EA) or tracheoesophageal fistula (TEF) carry an increased risk of long-term cardiopulmonary malaise. The role of the airway microbiome in EA/TEF patients remains unclear.MethodsAll EA/TEF patients treated between 1980 and 2010 were invited to a prospective clinical examination, spirometry, and spiroergometry. The airway microbiome was determined from deep induced sputum by 16 S rRNA gene sequencing. The results were compared to a healthy age- and sex-matched control group.ResultsNineteen EA/TEF patients with a mean age of 24.7 ± 7 years and 19 age- and sex-matched controls were included. EA/TEF patients showed a significantly lower muscle mass, lower maximum vital capacity (VCmax), and higher rates of restrictive ventilation disorders. Spiroergometry revealed a significantly lower relative performance capacity and lower peak VO2 in EA/TEF patients. Alpha- and beta-diversity of the airway microbiome did not differ significantly between the two groups. Linear discriminant effect size analysis revealed significantly enriched species of Prevotella_uncultured, Streptococcus_anginosus, Prevotella_7_Prevotella_enoeca, and Mogibacterium_timidum.ConclusionEA/TEF patients frequently suffer from restrictive ventilation disorders and impaired cardiopulmonary function associated with minor alterations of the airway microbiome. Long-term examinations of EA/TEF patients seem to be necessary in order to detect impaired cardiopulmonary function.ImpactThe key messages of the present study are a significantly decreased VCmax and exercise performance, as well as airway microbiome differences in EA/TEF patients. This study is the first to present parameters of lung function and exercise performance in combination with airway microbiome analysis with a mean follow-up of 24 years in EA/TEF patients. Prospective, long-term studies are needed to unravel possible interactions between alterations of the airway microbiome and impaired pulmonary function in EA/TEF patients.

Dataset Information

Structural and numerical changes of chromosome X in patients with esophageal atresia.

Publications

Structural and numerical changes of chromosome X in patients with esophageal atresia.

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