scholarly journals Epidemiology of clubfoot in Sweden from 2016 to 2019: A national register study

PLoS ONE ◽  
2021 ◽  
Vol 16 (12) ◽  
pp. e0260336
Author(s):  
Anna-Clara Esbjörnsson ◽  
Arne Johansson ◽  
Hanneke Andriesse ◽  
Henrik Wallander
Keyword(s):  
Confidence Interval ◽  
Geographic Location ◽  
Foot Deformities ◽  
National Register ◽  
Birth Prevalence ◽  
Live Births ◽  
Number Of Children ◽  
Bilateral Involvement ◽  
Quality Register ◽  
Pediatric Orthopedic

Background This study aimed to estimate the birth prevalence of children born with isolated or non-isolated clubfoot in Sweden using a national clubfoot register. Secondarily we aimed to describe the clubfoot population with respect to sex, laterality, severity of deformity, comorbidity and geographic location. Methods A national register, the Swedish Pediatric Orthopedic Quality register, was used to extract data on newborn children with clubfoot. To calculate the birth prevalence of children with isolated or non-isolated clubfoot between 1st of January 2016 and 31st of December 2019, we used official reports of the total number of Swedish live births from the Swedish Board of Statistics. The Pirani score and predefined signs of atypical clubfoot were used to classify clubfoot severity at birth. Results In total 612 children with clubfoot were identified. Of these, 564 were children with isolated clubfoot, generating a birth prevalence of 1.24/1000 live births (95% confidence interval 1.15–1.35). About 8% were children with non-isolated clubfoot, increasing the birth prevalence to 1.35/1000 live births (95% confidence interval 1.25–1.46). Of the children with isolated clubfoot, 74% were boys and 47% had bilateral involvement. The children with non-isolated clubfoot had more severe foot deformities at birth and a greater proportion of clubfeet with atypical signs compared with children with isolated clubfoot. Conclusion We have established the birth prevalence of children born with isolated or non-isolated clubfoot in Sweden based on data from a national register. Moreover, we have estimated the number of children born with atypical clubfeet in instances of both isolated and non-isolated clubfoot. These numbers may serve as a baseline for expected birth prevalence when planning clubfoot treatment and when evaluating time trends of children born with clubfoot.

scholarly journals Birth prevalence of tetrahydrobiopterin deficiency in China: data from the national newborn screening program, 2013–2019

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Xuelian Yuan ◽  
Jun Zhu ◽  
Hanmin Liu ◽  
Liangcheng Xiang ◽  
Yongna Yao ◽  
...  
Keyword(s):  
Screening Program ◽  
National Level ◽  
Recall Rate ◽  
Birth Prevalence ◽  
Live Births ◽  
Provincial Level ◽  
Tetrahydrobiopterin Deficiency ◽  
Total Prevalence ◽  
Entire Country ◽  
Northern Regions

Abstract Background Tetrahydrobiopterin deficiency (BH4D), a less common form of hyperphenylalaninemia (HPA), can lead to severe developmental retardation if untreated. Little has been reported on the prevalence of BH4D among live births worldwide. This study examined its prevalence across China and between geographical areas within the country. Methods We analyzed data from the Chinese national screening program for HPA in newborns between 2013 and 2019. BH4D prevalence was examined by province, region and the entire country. Provincial-level prevalence was estimated from the number of confirmed BH4D cases and screened newborns, after adjusting for HPA-positive recall rate. Regional- and national-level prevalences were estimated by summing provincial-level prevalences after weighting them by the number of live births. A Poisson distribution was assumed in order to calculate 95% confidence intervals (CIs) for prevalence. Results Among 107,078,115 newborns screened for HPA in China, 380 with BH4D were identified, corresponding to a total prevalence of 3.8 per 1,000,000 live births. Prevalence was higher in eastern regions (5.9 per 1,000,000) and northern regions (4.1 per 1,000,000) of China than in southern regions (1.6 per 1,000,000) or northwestern regions (1.7 per 1,000,000). Across the entire country, 3.9% cases of HPA were diagnosed as BH4D, and this proportion reached as high as 15.1% in the southern part of the country. Conclusions These first insights into BH4D prevalence across China suggest slightly higher prevalence than in other countries, and it varies substantially by region. More attention should be paid to early diagnosis and timely treatment of BH4D.

scholarly journals Patterns of induced abortion in urban area of Southeastern region, Brazil

1998 ◽  
Vol 32 (1) ◽  
pp. 7-17 ◽  
Author(s):  
Rebeca de Souza e Silva
Keyword(s):  
Single Women ◽  
Induced Abortion ◽  
Demographic Variables ◽  
Contraceptive Methods ◽  
Live Births ◽  
Number Of Children ◽  
Induced Abortions ◽  
Reproductive Life ◽  
Southeastern Region ◽  
Fertile Women

OBJECTIVE: To assess the behavior of induced abortion as a function of certain demographic variables, for the population of fertile women (15 to 49 years old) residing in the Vila Madalena subdistrict S. Paulo (Brazil). MATERIAL AND METHOD: Two population samples were selected. One sample, with 996 women, investigated the incidence of induced abortions during 1987, using the RRT. In the other, involving 1,004 women, the same information was detected through a conventional approach. In both samples, the induced abortion occurring during the reproductive life was recorded in direct fashion. Though this analysis refers only to information about past abortions, that is by 2,000 women -, it should be noted that it is exactly the RRT that lends credibility to the found or results given results. CONCLUSION: The analysis furnishes evidence showing that single women, young women between the ages of 15 and 19, women who have not had live births, women who have a number of children below the expected ideal, women who use contraceptive methods (especially inefficient ones) and women who do not have any restrictions as to abortion constitute the categories most inclined to resort to induced abortion. This grouping suggests the existence of interrelationships between categories, that is, each of these categories is probably composed primarily of the same women, those who are at the beginning of their reproductive lives.

scholarly journals On the Mortality of Males and Females from Peritonitis at Ages between Fifteen and Fifty

1875 ◽  
Vol 19 (2) ◽  
pp. 118-121
Author(s):  
William Robertson
Keyword(s):  
National Register ◽  
Live Births ◽  
Dead Child ◽  
Still Births ◽  
Males And Females

The want of a national register of still births is one of the causes which in this country interfere with such important inquiries as those that relate to the true mortality due to parturition. No doubt our system of registration of live births is sufficiently perfect; but until a corresponding record of still births is available, it will be impossible to ascertain, with the accuracy necessary for statistical purposes, the number of women who have, within a given period, become mothers. This is the more to be regretted, since the danger to the life of a female is likely to be far greater when she has given birth to a dead child, than when by her labour she has added a unit to the living population of the country.

scholarly journals Hypoxic Status Is Associated With The Intensity Of Hypoxia Inducible Factor (Hif)-1α Expression In A Premature Placenta

2021 ◽  
Vol 17 (1) ◽  
pp. 1-11
Author(s):  
Kartini Edwin
Keyword(s):  
Confidence Interval ◽  
Premature Birth ◽  
Odds Ratio ◽  
Critical Role ◽  
Hypoxia Inducible Factor ◽  
Biological Materials ◽  
P Value ◽  
Live Births ◽  
Infant Morbidity ◽  
The Relationship

Prematurity refers to live births before 37 weeks of gestation and associated with infant morbidity/mortality. Activation of HIF during the final pregnancy phase is believed to play a critical role in the pathogenesis of premature birth and other pregnancy disorders. This study aimed to analyze the relationship between hypoxicstatus and the intensity of HIF-1α expression in a premature placenta.Stored biological materials premature placenta (paraffin blocks) was used in this study. Thirtyone samples of placental hypoxia (H) and 28 samples of premature placental non-hypoxia (N) as controls, were selected non-random consecutively. Subsequently, immunohistochemistry was performed to analyze HIF-1α expression. TheChi-square testwas used to analyze the data and a p-value <0.05 was considered statistically significant.Moderate to strong intensity of HIF-1α expressionwas observed in 58% of hypoxic placenta samples, whereas most of non-hypoxic placental samples(86%) did not expressed or expressed weaklyHIF-1α.There was a significant correlation between the intensity of HIF-1α expression and placental hypoxia (p <0.05) and Odds Ratio (OR) value was 8.31 with a 95% confidence interval (2.32-29.77). The conclusion shows that hypoxic status is associated with intensity of hypoxia inducible factor (HIF)-1α expression in a premature placenta.

scholarly journals Do physical activity levels differ by number of children at home in women aged 25–44 in the general population?

2019 ◽  
Vol 15 ◽  
pp. 174550651987118 ◽  
Author(s):  
Laura P Abell ◽  
Kelly A Tanase ◽  
Madison L Gilmore ◽  
Anna E Winnicki ◽  
Victor L Holmes ◽  
...  
Keyword(s):  
Physical Activity ◽  
Confidence Interval ◽  
Odds Ratio ◽  
Adjusted Odds Ratio ◽  
Activity Level ◽  
Activity Levels ◽  
Related Factors ◽  
Number Of Children ◽  
Physical Activity Levels ◽  
At Home

Objectives: While physical activity is important for health, many women do not meet recommended levels, particularly mothers. The purpose of this study was to assess whether physical activity levels differ by number of children at home in women aged 25–44 in the general US population. Methods: This cross-sectional analysis used 2017 Behavioral Risk Factor Surveillance System data for females aged 25–44 (N = 6266) from California, Colorado, New York, Texas, and Utah. Ordered logistic regression analysis assessed the relationship between physical activity levels and number of children at home while controlling for state and demographic, socioeconomic, and health-related factors. Results: About half of participants reported “inactive” or “insufficiently active” physical activity levels and about two-thirds reported having one or more children at home. The results of adjusted analysis indicated that physical activity level was significantly related to having one child (adjusted odds ratio = 0.75, 95% confidence interval = 0.63, 0.89), two children (adjusted odds ratio = 0.79; 95% confidence interval = 0.67, 0.93), and three or more children (adjusted odds ratio = 0.80, 95% confidence interval = 0.67, 0.94) at home. Conclusion: Overall, physical activity levels were significantly related to presence of children at home for women aged 25–44, but increasing number of children at home did not impact effect size. For women aged 25–44 in a primary care setting, a moderate prevalence of inactive or insufficiently active physical activity may be expected. Providers should address physical activity with all patients in this target population during well-visits, but particularly for women with children at home; educate patients about the health benefits of regular physical activity; and provide resources that will help them integrate physical activity into their daily lifestyles.

scholarly journals The Epidemiology and Demographics of Hip Dysplasia

2011 ◽  
Vol 2011 ◽  
pp. 1-46 ◽  
Author(s):  
Randall T. Loder ◽  
Elaine N. Skopelja
Keyword(s):  
Native Americans ◽  
Positive Family History ◽  
Hip Osteoarthritis ◽  
Geographic Location ◽  
Breech Presentation ◽  
Developmental Dysplasia ◽  
Estrogen Metabolism ◽  
Foot Deformities ◽  
Congenital Muscular Torticollis ◽  
Unilateral Disease

The etiology of developmental dysplasia of the hip (DDH) is unknown. There are many insights, however, from epidemiologic/demographic information. A systematic medical literature review regarding DDH was performed. There is a predominance of left-sided (64.0%) and unilateral disease (63.4%). The incidence per 1000 live births ranges from 0.06 in Africans in Africa to 76.1 in Native Americans. There is significant variability in incidence within each racial group by geographic location. The incidence of clinical neonatal hip instability at birth ranges from 0.4 in Africans to 61.7 in Polish Caucasians. Predictors of DDH are breech presentation, positive family history, and gender (female). Children born premature, with low birth weights, or to multifetal pregnancies are somewhat protected from DDH. Certain HLA A, B, and D types demonstrate an increase in DDH. Chromosome 17q21 is strongly associated with DDH. Ligamentous laxity and abnormalities in collagen metabolism, estrogen metabolism, and pregnancy-associated pelvic instability are well-described associations with DDH. Many studies demonstrate an increase of DDH in the winter, both in the northern and southern hemispheres. Swaddling is strongly associated with DDH. Amniocentesis, premature labor, and massive radiation exposure may increase the risk of DDH. Associated conditions are congenital muscular torticollis and congenital foot deformities. The opposite hip is frequently abnormal when using rigorous radiographic assessments. The role of acetabular dysplasia and adult hip osteoarthritis is complex. Archeological studies demonstrate that the epidemiology of DDH may be changing.

scholarly journals Gastroschisis in Finland 1993 to 2014—Increasing Prevalence, High Rates of Abortion, and Survival: A Population-Based Study

2019 ◽  
Vol 30 (06) ◽  
pp. 536-540
Author(s):  
Arimatias Raitio ◽  
Asta Lahtinen ◽  
Johanna Syvänen ◽  
Teemu Kemppainen ◽  
Eliisa Löyttyniemi ◽  
...  
Keyword(s):  
Infant Mortality ◽  
Live Birth ◽  
Survival Rates ◽  
Population Based ◽  
Good Prognosis ◽  
Associated Anomalies ◽  
Population Based Study ◽  
Birth Prevalence ◽  
Live Births ◽  
Total Prevalence

Abstract Introduction The study aims to assess the changes in prevalence and mortality of gastroschisis, and to identify associated anomalies. Materials and Methods It is a population-based nationwide study. All gastroschisis cases were identified in the Finnish Register of Congenital Malformations and the Care Register for Health Care from 1993 to 2014 including live births, stillbirths, and terminations of pregnancy due to fetal anomalies. Associated anomalies were recorded, and analyzed, and prevalence and infant mortality were calculated. Results There were 320 cases of gastroschisis; 235 (73%) live births, 16 (5%) stillbirths, and 69 (22%) terminations of pregnancy. Live birth prevalence of gastroschisis in Finland was lower than generally reported (1.73 in 10,000). However, due to relatively high rates of abortion, our total prevalence of 2.57/10,000 was similar with other reports. The most common risk factor was young maternal age. Babies with gastroschisis were born prematurely, on average on the 36th week and most are delivered by caesarean section. There was a significant increasing trend in live birth prevalence (p = 0.0018). Overall infant mortality was 7.7% (18/235), 7.2% (16/222) in simple gastroschisis and 15% (2/13) in complex gastroschisis. Associated anomalies were rare both in aborted fetuses and neonates, and there was only one case with a chromosomal abnormality. Conclusion Gastroschisis is usually an isolated anomaly with increasing birth prevalence and excellent survival rates. Regardless of the good prognosis, the abortion rates in Finland are higher than previously reported, and we hypothesize this to be due to lack of appropriate antenatal counselling.

scholarly journals Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort

Brain ◽  
2019 ◽  
Vol 142 (8) ◽  
pp. 2303-2318 ◽  
Author(s):  
Joseph D Symonds ◽  
Sameer M Zuberi ◽  
Kirsty Stewart ◽  
Ailsa McLellan ◽  
Mary O‘Regan ◽  
...  
Keyword(s):  
Early Childhood ◽  
Genetic Testing ◽  
Confidence Interval ◽  
Single Gene ◽  
Genetic Diagnosis ◽  
Population Based ◽  
Childhood Onset ◽  
Live Births ◽  
Precision Therapy ◽  
Genetic Epilepsies

Abstract Epilepsy is common in early childhood. In this age group it is associated with high rates of therapy-resistance, and with cognitive, motor, and behavioural comorbidity. A large number of genes, with wide ranging functions, are implicated in its aetiology, especially in those with therapy-resistant seizures. Identifying the more common single-gene epilepsies will aid in targeting resources, the prioritization of diagnostic testing and development of precision therapy. Previous studies of genetic testing in epilepsy have not been prospective and population-based. Therefore, the population-incidence of common genetic epilepsies remains unknown. The objective of this study was to describe the incidence and phenotypic spectrum of the most common single-gene epilepsies in young children, and to calculate what proportion are amenable to precision therapy. This was a prospective national epidemiological cohort study. All children presenting with epilepsy before 36 months of age were eligible. Children presenting with recurrent prolonged (&gt;10 min) febrile seizures; febrile or afebrile status epilepticus (&gt;30 min); or with clusters of two or more febrile or afebrile seizures within a 24-h period were also eligible. Participants were recruited from all 20 regional paediatric departments and four tertiary children’s hospitals in Scotland over a 3-year period. DNA samples were tested on a custom-designed 104-gene epilepsy panel. Detailed clinical information was systematically gathered at initial presentation and during follow-up. Clinical and genetic data were reviewed by a multidisciplinary team of clinicians and genetic scientists. The pathogenic significance of the genetic variants was assessed in accordance with the guidelines of UK Association of Clinical Genetic Science (ACGS). Of the 343 patients who met inclusion criteria, 333 completed genetic testing, and 80/333 (24%) had a diagnostic genetic finding. The overall estimated annual incidence of single-gene epilepsies in this well-defined population was 1 per 2120 live births (47.2/100 000; 95% confidence interval 36.9–57.5). PRRT2 was the most common single-gene epilepsy with an incidence of 1 per 9970 live births (10.0/100 000; 95% confidence interval 5.26–14.8) followed by SCN1A: 1 per 12 200 (8.26/100 000; 95% confidence interval 3.93–12.6); KCNQ2: 1 per 17 000 (5.89/100 000; 95% confidence interval 2.24–9.56) and SLC2A1: 1 per 24 300 (4.13/100 000; 95% confidence interval 1.07–7.19). Presentation before the age of 6 months, and presentation with afebrile focal seizures were significantly associated with genetic diagnosis. Single-gene disorders accounted for a quarter of the seizure disorders in this cohort. Genetic testing is recommended to identify children who may benefit from precision treatment and should be mainstream practice in early childhood onset epilepsy.

scholarly journals Reproductive Outcome of Women with 21-Hydroxylase-Deficient Nonclassic Adrenal Hyperplasia

2006 ◽  
Vol 91 (9) ◽  
pp. 3451-3456 ◽  
Author(s):  
C. Moran ◽  
R. Azziz ◽  
N. Weintrob ◽  
S. F. Witchel ◽  
V. Rohmer ◽  
...  
Keyword(s):  
At Risk ◽  
Confidence Interval ◽  
Prospective Study ◽  
Reproductive Outcome ◽  
Adrenal Hyperplasia ◽  
Acth Stimulation ◽  
Live Births ◽  
Severe Mutation ◽  
17 Hydroxyprogesterone ◽  
International Multicenter

Abstract Context: Because many women with 21-hydroxylase (21-OH)-deficient nonclassic adrenal hyperplasia (NCAH) carry at least one allele affected by a severe mutation of CYP21, they are at risk for giving birth to infants with classic adrenal hyperplasia (CAH). Objective: Our objective was to determine the frequency of CAH and NCAH infants born to mothers with 21-OH-deficient NCAH. Design and Setting: We conducted an international multicenter retrospective/prospective study. Patients and Methods: The outcome of 203 pregnancies among 101 women with 21-OH-deficient NCAH was reviewed. The diagnosis of 21-OH-deficient NCAH was established by a basal or post-ACTH-stimulation 17-hydroxyprogesterone level of more than 10 ng/ml (30.3 nmol/liter). When possible, genotype analyses were performed to confirm CAH or NCAH in the offspring. Results: Of the 203 pregnancies, 138 (68%) occurred before the mother’s diagnosis of NCAH and 65 (32%) after the diagnosis. Spontaneous miscarriages occurred in 35 of 138 pregnancies (25.4%) before the maternal diagnosis of NCAH, and in only four of 65 pregnancies (6.2%) after the diagnosis (P &lt; 0.002). Four (2.5%; 95% confidence interval, 0.7–6.2%) of the 162 live births were diagnosed with CAH. To date, 24 (14.8%; 95% confidence interval, 9.0–20.6%) children, 13 girls and 11 boys, have been diagnosed with NCAH. The distribution of NCAH children and their mothers varied significantly by ethnicity (P &lt; 0.0001, for both). Conclusions: The risk of a mother with 21-OH-deficient NCAH for giving birth to a child affected with CAH is 2.5%; at least 14.8% of children born to these mothers have NCAH.

Regional differnces in birth prevalence of congenital heart disease in Malta

1999 ◽  
Vol 9 (2) ◽  
pp. 150-154 ◽  
Author(s):  
Victor Grech ◽  
Hugo Agius-Muscat ◽  
Charles Savona-Ventura ◽  
Joe Pace
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Odds Ratio ◽  
Congenital Heart ◽  
The South ◽  
Birth Prevalence ◽  
North West ◽  
Live Births ◽  
Cardiac Malformations ◽  
Significant Difference

AbstractAimRecent studies have shown a correlation between environmental pollutants and increased risk of selected congenital malformations. The South-East area of the Island of Malta is much more industrialised than the more rural North-West area. The aim of this study was to test the null hypothesis that there are no regional differences in Malta in the prevalence at birth of congenital cardiac malformations. Methods: Live born infants with congenital cardiac malformations born between 1990 and 1994 were allocated to 10 areas, and thence to 2 regions of 5 areas each, so as to constitute North-West and South-East Malta. Official publications gave population totals and growth rates. Those infants with congenital cardiac malformations were then compared between the different regions using χ2and the Mann-Whitney U test.ResultsThe overall prevalence of congenital heart disease at birth was 8.8/1000 live births. The birth prevalence for the South-East region (10.1/1000 LB – 95% CI 8.4–12.3/1000 live births) was significantly higher than for the North-West (7.4/1000 live births – 95% CI 6.0–9.0/1000 live births) – p=0.03, Odds ratio 1.38 (95% CI 1.05–2.61). The Mann-Whitney U test showed a significant difference in the distribution amongst the 10 defined areas (p=0.016). The Central-East area had the highest prevalence of cardiac malformations in the entire Island – p=0.02, Odds ratio 1.70 (95% CI 1.10–2.61). Demography showed an efflux of individuals from the South-East of Malta.ConclusionThe higher prevalence of congenital heart disease noted at birth in South-East Malta is unlikely to be due to genetic factors, as these would have migrated North-West along with the population movement. An environmental factor, therefore, seems more likely to be responsible for the increased predisposition to congenital heart disease in the South-East of Malta.

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