Prevalence of birth defects in an Arctic Russian setting from 1973 to 2011: a register-based study.

BACKGROUND: Birth defects (BD) constitute an important public health issue as they are the main cause of infant death. Their prevalence in Europe for 2008-2012 was 25.6 per 1000 newborns. To date, there are no population-based studies for the Russian Federation. The aim of the present study is to estimate the prevalence of BD, its forms, and changes over time in the Russian Arctic city of Monchegorsk (Murmansk County) for the period 1973-2011. METHODS: The Murmansk County Birth Register and the Kola Birth Register were the primary sources of information, covering 30448 pregnancy outcomes in Monchegorsk (Murmansk County, Russia) during the study period. RESULTS: The total perinatal prevalence of BD was 36.1/1000 live births (LB) and stillborn (SB) (95% CI = 34.0-38.2). After exclusions of minor malformations according to the European Surveillance of Congenital Anomalies guidelines, it decreased to 26.5/1000 LB plus SB (95% CI = 24.6-28.3). The perinatal prevalence of BD that are obligatory to report in Russia was 7.3/1000 LB plus SB (95% CI = 6.4-8.3). There was a significant positive time-trend in total perinatal prevalence of birth defects across the study period (p < 0.001 for trend). Prevalence of all BD increased from 23.5/1000 to 46.3/1000 (LB plus SB), while that excluding minor defects rose from 17.7/1000 to 35.7/1000 (LB plus SB). The most prevalent group of defects was malformations of the musculoskeletal system, which represented 35.4% of all BD. The most prominent increase was observed for the urinary system, rising from 0.2/1000 to 19.1/1000 (LB plus SB). CONCLUSIONS: The observed perinatal prevalence of BD in Monchegorsk increased two-fold during the 38-year study period. Further investigations to identify the underlying bases for the observed progressive growth in BD are recommended.

Cosmetic Comparison Between the Modified Uchida Method and the Mustarde Method for Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome.

PURPOSE: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare, congenital, surgically challenging disease. We undertook an objective, functional, and cosmetic comparison between the modified Uchida procedure and the Mustarde procedure on Asian patients with BPES. DESIGN: This is a retrospective, comparative, interventional case series with the description of 2 surgical techniques. PARTICIPANTS: Twenty consecutive Japanese patients with BPES were studied. METHODS: The patients were assigned to either the modified Uchida or the Mustarde procedure on the basis of preoperative intercanthal distance (ICD) ratio (ICD/palpebral fissure width). Intercanthal distance and margin reflex distance were measured from photographs before and after surgery. Classifications were made according to epicanthal fold score and cosmetic score using a visual analog scale (VAS). MAIN OUTCOME MEASURES: The main outcome measures were postoperative improvement in ICD ratio and the VAS. RESULTS: Of the 20 patients, 5 underwent the modified Uchida procedure and the other 15 underwent the Mustarde procedure. The preoperative median ICD ratio was 2.0 (range, 1.9-2.5) and 2.5 (range, 2.0-3.4) for the modified Uchida and Mustarde procedures, respectively, and decreased to 1.5 (range, 1.5-1.7) and 1.6 (range, 1.5-1.8) postoperatively. The mean ICD reduction rate was 35.7% (SD, 1.0%) in the Mustarde group and 22.1% (SD, 1.3%) in the modified Uchida group (P < 0.001).The mean VAS for the modified Uchida and Mustarde procedures was 5.9 (SD, 1.3) and 2.8 (SD, 1.1), respectively, which was statistically significant (P = 0.0166). CONCLUSIONS: Both the modified Uchida and Mustarde procedures could effectively shorten the ICD; however, cosmetic results were significantly superior using the modified Uchida method.

Ultrasound of urinary system and urinary screening in 14 256 asymptomatic children in China.

AIM: The aim of this study is to assess the characteristics of urinary system diseases and the role of the ultrasound screening and urinalysis screening for chronic kidney disease (CKD) in asymptomatic children in China. METHODS: Between September 2008 and November 2008, 14 256 children excluding those with obvious symptoms and signs were enrolled in our study. All the subjects accepted ultrasound and urinary screening. A case-control study was performed to evaluate the relative risk of having stones in those children exposed to melamine formula. RESULTS: Of the enrolled children, 6.10% (869 of 14 256) showed abnormalities, of which 409 (2.87%) were established by ultrasound, 572 (4.01%) by urinalysis and 112 (0.79%) by both ultrasound screening and urinalysis. The abnormalities included congenital anomalies of kidney and urinary tract, urinary stones and/or hydronephrosis, leucocyturia and haematuria and/or proteinuria. Children exposed to melamine formula were 5.17 times as likely to have kidney stones as children exposed to no-melamine formula (95% confidence interval, 3.28-8.14; P < 0.001); the probability of kidney stones in melamine-fed infants were 6.28 times as likely as those no melamine-fed (95% confidence interval, 3.71-10.65; P < 0.001). CONCLUSION: Ultrasonography and urinalysis could complement each other and play important roles in the early diagnosis of anomalies of the urinary system, but urinalysis is a more cost-effective screening tool for CKD in children in China. Exposure to melamine-contaminated formula associated with urinary stones, especially in infants, was significantly higher than the control group.

Ultrasound biomicroscopy image patterns in normal upper eyelid and congenital ptosis in the Indian population.

PURPOSE: To study the features of upper eyelid in healthy individual and different types of congenital ptosis in the Indian population using ultrasound biomicroscopy (UBM). METHODS: This was a prospective observational study at a tertiary care center. Eyelid structure of healthy individuals with no eyelid abnormalities (n = 19); simple congenital ptosis (n = 33) cases; Marcus Gunn jaw-winking ptosis (MGJWP, n = 7) cases, and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES, n = 20) cases were studied on a vertical UBM scan using 50-MHz probe. Lid-thickness, tarsal-thickness, orbicularis oculi and levator-Muller-orbital septum-conjunctival (LMSC) complex were measured in primary gaze. Comparison was made between four groups and results were statistically analyzed using ANOVA test. In normal individuals, LMSC measurements were repeated in down-gaze imaging. RESULTS: Skin with subcutaneous tissue, LMSC complex and pre-aponeurotic fat-pad appeared echodense while orbicularis oculi and tarsus appeared echolucent. In primary gaze, mean thickness (± standard deviation) of the eyelid, tarsus, orbicularis oculi and LMSC, respectively, were: 1.612 ± 0.205, 0.907 ± 0.098, 0.336 ± 0.083, and 0.785 ± 0.135 mm in normal individual. LMSC showed 46.64% increase in thickness on down-gaze. The mean eyelid thickness and LMSC were thicker in MGJWP and BPES as compared to normal. In different types of congenital ptosis cases, various patterns of UBM imaging were observed. CONCLUSION: UBM allows noninvasive imaging of eyelid structures with good anatomical correspondence in normal eyelids and study the structural alterations of eyelids in different types of congenital ptosis. UBM can be used to highlight the anatomical difference in normal eyelids that may help modify the surgery for better cosmetic outcomes. Furthermore, it has the potential to be used in preoperative evaluation and operative planning in certain types of acquired ptosis, which needs to be evaluated.

Variants of the WNT7A gene in Chinese patients with müllerian duct abnormalities.

OBJECTIVE: To search for WNT7A gene mutations in a cohort of 191 Chinese Han patients with müllerian duct abnormalities (MDAs). DESIGN: Phenotypic and mutational study. SETTING: University hospital. PATIENT(S): A total of 191 Chinese Han patients with MDAs and 192 healthy control individuals. INTERVENTION(S): Genomic DNA extracted from blood samples, all coding regions amplified by polymerase chain reaction (PCR) then directly sequenced to screen variants. MAIN OUTCOME MEASURE(S): Not applicable. RESULT(S): The sequence analysis revealed one novel synonymous variant and three known single-nucleotide polymorphisms (SNPs). CONCLUSION(S): The results indicate that mutations in the coding sequence of WNT7A are not responsible for müllerian duct abnormalities in the Chinese population.

Analysis of PBX1 mutations in 192 Chinese women with Müllerian duct abnormalities.

We examined the PBX1 gene in 192 Chinese women with Müllerian duct abnormalities and revealed 2 known single nucleotide polymorphisms: c.61 > A in exon 1 and c.998-1330A>G in intron 7. Future studies in large cohorts of different ethnic populations are warranted to establish definite associations between the PBX1 gene and Müllerian duct abnormalities.

Ethnic differences in congenital malformations in the Netherlands: analyses of a 5-year birth cohort.

Congenital malformations are among the major causes of perinatal mortality and morbidity at present. Research into the ethnic diversity of congenital malformations can form a basis both for aetiological studies and for health care advice and planning. This study compared the overall prevalence of congenital malformations, the prevalence in different organ systems and of several specific malformations between different maternal ethnic groups in the Netherlands using a 5-year national birth cohort (1996-2000) containing 881 800 births. Maternal ethnic groups considered were Dutch; Mediterranean (Moroccan/Turkish); other European; Black; Hindu and Asian. Mediterranean women had a 20% higher risk of having a child with a congenital malformation than Dutch women (age-adjusted OR = 1.21 [95% CI 1.16, 1.27]). They showed an increased risk of malformations in several organ systems such as the central nervous system and sensory organs, the urogenital system and skin and abdominal wall. Further, they had an increased risk of the group of chromosomal malformations/multiple malformations/syndromes. For the specific group of multiple malformations the maternal age adjusted OR was 1.80 [95% CI 1.47, 2.20]. The Black group showed a significantly increased risk of skeletal and muscular malformations (age adjusted OR = 1.76 [95% CI 1.53, 2.02]) with a sixfold increased risk of polydactyly compared with the Dutch group. For Mediterranean women, the largest and fastest growing group of immigrants in the Netherlands, this study demonstrated an increased risk of congenital malformations.