[Aberrant right subclavian artery (ARSA)--a new sonographic marker for chromosomal aberrations in the second trimester--preliminary observations]. / Bladzaca prawa tetnica podobojczykowa--nowy marker aberracji chromosomowych w badaniu USG drugiego trymestru--wstepne obserwacje na materiale wlasnym.

OBJECTIVES: Presentation of our own, preliminary experiences in the assessment of the right subclavian artery's (RSA) position during the second trimester scan. MATERIAL AND METHODS: Since January 2012 our center has started to conduct the assessment of the position of the right subclavian artery in the second trimester scan. Patients who were diagnosed with an aberrant right subclavian artery (ARSA) were referred to invasive method of prenatal diagnosis. Abnormal karyotype and microdeletion 22q11 were analyzed. Detailed echocardiography was conducted in each case. RESULTS: Between January 2012 and September 2013 we diagnosed 19 cases of ARSA. There were three cases of congenital heart defect (15.8%; 3/19) (ventricular septal defect--VSD, n=2, atrioventricular septal defect--AVSD, n=1). Two out of 17 cases showed an abnormal karyotype (11.8%; 2/17)--46,XY del(5) (q15q31) and 47,XX+18. No 22q11.2 deletions were observed. Two patients did not consent to invasive methods of prenatal diagnosis. CONCLUSIONS: The position of the right subclavian artery (RSA) should be routinely assessed during the second trimester of ultrasound screening. The presence of ARSA increases the risk for abnormal karyotype in the fetus and therefore, all patients who are diagnosed with ARSA should be referred to the reference center.

[Infantile swallowing]. / Frühkindliches Schlucken.

BACKGROUND: Increasing numbers of preterm infants 1 and ever-improving potentials in neonatal medicine will lead to a rising incidence in infantile feeding problems. Profound knowledge regarding the development and anatomy of pre- and postnatal swallowing functions is essential for the assessment and therapy of infantile feeding and swallowing problems. METHOD: For this systematic review a selective literature research in PubMed has been carried out. RESULTS: Oropharyngeal structures and oral-motor skills for sucking and swallowing develop during embryonic and foetal stages and enable postnatal oral feeding. Knowledge of pre- and postnatal developmental stages of oral-motor development and swallowing serves as a base for the assessment of preterm infants' abilities and tolerance for feeding. A direct comparison of the swallowing process between infants, children and adults is not possible due to different anatomical characteristics. Developmental processes and neurologically triggered coordination procedures of early feeding skills are complex and very susceptible to faults. Disruption can cause severe disorders of swallowing coordination. Feeding problems are a common problem in preterm infants. Differentiated assessments on the basis of these results and early intervention facilitating oral-motor skills can accelerate the transition from tube to oral feeding and prevent further feeding issues.

Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge (22q11) deletion syndrome.

We assessed feeding-related developmental anomalies in the LgDel mouse model of chromosome 22q11 deletion syndrome (22q11DS), a common developmental disorder that frequently includes perinatal dysphagia--debilitating feeding, swallowing and nutrition difficulties from birth onward--within its phenotypic spectrum. LgDel pups gain significantly less weight during the first postnatal weeks, and have several signs of respiratory infections due to food aspiration. Most 22q11 genes are expressed in anlagen of craniofacial and brainstem regions critical for feeding and swallowing, and diminished expression in LgDel embryos apparently compromises development of these regions. Palate and jaw anomalies indicate divergent oro-facial morphogenesis. Altered expression and patterning of hindbrain transcriptional regulators, especially those related to retinoic acid (RA) signaling, prefigures these disruptions. Subsequently, gene expression, axon growth and sensory ganglion formation in the trigeminal (V), glossopharyngeal (IX) or vagus (X) cranial nerves (CNs) that innervate targets essential for feeding, swallowing and digestion are disrupted. Posterior CN IX and X ganglia anomalies primarily reflect diminished dosage of the 22q11DS candidate gene Tbx1. Genetic modification of RA signaling in LgDel embryos rescues the anterior CN V phenotype and returns expression levels or pattern of RA-sensitive genes to those in wild-type embryos. Thus, diminished 22q11 gene dosage, including but not limited to Tbx1, disrupts oro-facial and CN development by modifying RA-modulated anterior-posterior hindbrain differentiation. These disruptions likely contribute to dysphagia in infants and young children with 22q11DS.

Incidence and risk factors for dysphagia after anterior cervical fusion.

STUDY DESIGN: Retrospective database analysis. OBJECTIVE: To determine the national incidence, mortality, and risk factors for dysphagia associated with anterior cervical spinal fusion surgery in the United States. SUMMARY OF BACKGROUND DATA: Dysphagia is a known complication associated with anterior cervical fusion (ACF). A population-based database was analyzed to characterize the incidence of dysphagia in terms of demographics, mortality, and risk factors associated with ACF. METHODS: Data from the Nationwide Inpatient Sample of the Healthcare Cost and Utilization Project were obtained from 2002 to 2009. Patients undergoing ACF for cervical myelopathy and/or radiculopathy were identified and separated into cohorts (1- to 2-level and 3+-level fusions), and incidences of dysphagia were identified. Demographics, length of stay, costs, mortality, and use of bone morphogenetic proteins (BMPs) were assessed. Statistical data were analyzed in SPSS (version 20), using the Student t test for discrete variables and the χ test for categorical data. Binomial logistic regression was used to identify independent predictors of dysphagia. A P value of less than 0.001 was used to denote significance. RESULTS: A total of 159,590 ACF cases were identified of which 139,434 were 1- to 2-level ACF and 20,156 were 3+-level ACF. The incidence of dysphagia in the 3+-level ACF group was double that of the 1- to 2-level ACF group (44.8 vs. 22.4 per 1000; P < 0.001). Patients with dysphagia were significantly older than patients without dysphagia (P < 0.001). Dysphagia was more common in males undergoing 1- to 2-level ACF (P < 0.001). BMP was used more frequently for patients with dysphagia in the 1- to 2-level ACF group (9.4% vs. 7.2% of cases; P < 0.001). Logistic regression analysis demonstrated that independent predictors for dysphagia included age (≥65 yr), male sex, 3+-level fusion, BMP use, and preoperative patient comorbidities. CONCLUSION: Dysphagia occurs twice as often after 3+-level ACF compared with 1- to 2-level ACF. Utilization of BMP was also linked to an increased incidence of dysphagia in the 1- to 2-level ACF group. Regardless of the number of levels fused, patients experiencing dysphagia had increased age, comorbid risk factors, hospitalizations, and costs. LEVEL OF EVIDENCE: 3.

Aberrant right subclavian artery (ARSA) in unselected population at first and second trimester ultrasonography.

OBJECTIVES: To evaluate the feasibility of examining aberrant right subclavian artery (ARSA) at first and second trimester gestation, its prevalence and associations in an unselected population. METHODS: Right subclavian artery (RSA) was prospectively evaluated in 6617 routine patients. When ARSA was detected, fetal echocardiography was offered and fetal karyotyping was discussed. If invasive testing was performed with normal karyotype, fluorescence in situ hybridization for 22q11.2 microdeletion and additionally, in case of nuchal translucency (NT) measurement above the 99(th) centile, oligo array-based comparative genomic hybridization, were offered. In all aneuploidies, NT and first trimester additional ultrasonographic (US) markers assessment (nasal bone, tricuspid valve, ductus venosus) were recorded. RESULTS: RSA assessment was feasible in 85.3% and 98% of first and second trimester examinations, respectively (overall feasibility 94%). There were detected 89 ARSA (1.42% of the feasible cases), of which 66 in the first trimester. More than 20% were associated to other abnormalities: 10 aneuploidies; 2 microdeletions (15q11.2 and 22q11.2); in the euploid fetuses, 8 associated abnormalities were observed, 4 of which were cardiac defects. In the case of 22q11.2 microdeletion, ARSA was associated only with increased NT. CONCLUSION: Prenatal routine US assessment of the RSA is feasible by highly experienced operators in first trimester screening. There is an important association of ARSA detected in unselected population with fetal abnormalities, including aneuploidies, cardiac defects and genetic anomalies. In trisomy 21 fetuses, ARSA can be the only first trimester US marker or, when associated to increased NT, it can represent the only 'additional' marker.

Cerebral palsy and aging.

Cerebral palsy (CP), the most common major disabling motor disorder of childhood, is frequently thought of as a condition that affects only children. Deaths in children with CP, never common, have in recent years become very rare, unless the child is very severely and multiply disabled. Thus, virtually all children assigned the diagnosis of CP will survive into adulthood. Attention to the adult with CP has been sparse, and the evolution of the motor disorder as the individual moves through adolescence, young adulthood, middle age, and old age is not well understood. Nor do we know what happens to other functional domains, such as communication and eating behavior, in adults with CP. Although the brain injury that initially causes CP by definition does not progressively worsen through the lifetime, the effects of CP manifest differently throughout the lifespan. The aging process must inevitably interact with the motor disorder, but we lack systematic, large-scale follow-up studies of children with CP into adulthood and through adulthood with thorough assessments performed over time. In this paper we summarize what is known of the epidemiology of CP throughout the lifespan, beginning with mortality and life expectancy, then survey what is known of functioning, ability, and quality of life of adults with CP. We conclude by describing a framework for future research on CP and aging that is built around the World Health Organization's International Classification of Functioning, Disability, and Health (ICF) and suggest specific tools and approaches for conducting that research in a sound manner.

Persistent buccopharyngeal membrane in an adult.

Persistence of the buccopharyngeal membrane (BPM) also called the oropharyngeal membrane is a rare congenital oropharyngeal anomaly. We report a case of an adult aboriginal male patient with a membrane that closed his oropharyngeal isthmus except for a 2 cm diameter central perforation. The patient had no symptoms related to this membrane and no other congenital anomalies were found. This finding has not previously been reported in an adult. The embryology and management of this rare condition is discussed.