53 results match your criteria: "Medical Faculty Otto-von-Guericke-University[Affiliation]"

Article Synopsis
  • Congenital ocular anomalies (COA) are a leading cause of visual impairment in children in high-income countries, and this study aimed to evaluate their prevalence in European registries.
  • Data from 19 EUROmediCAT registries and one healthcare database revealed a prevalence of COA at 3.47 cases per 10,000 births, with congenital lens anomalies being the most common type.
  • The findings suggest the need for better screening and early diagnosis of COA, highlighting the importance of large-scale epidemiological studies for understanding these conditions.
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Background: Hirschsprung's disease is a rare congenital anomaly of the colon with absence of the ganglionic nerve cells. The treatment of the anomaly is surgical.

Methods: This population-based data-linkage cohort study was part of the EUROlinkCAT project and investigated mortality and morbidity for the first 5 years of life for European children diagnosed with Hirschsprung's disease.

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Article Synopsis
  • CD19-directed immunotherapy is key for treating B-cell precursor acute lymphoblastic leukemia (BCP-ALL), leading to better outcomes and lower toxicity, but challenges like therapy resistance and short remissions persist.
  • Researchers tested a new CD19 antibody (CD19-DE) and a modified CD47 antibody (Hu5F9-IgG2σ) to enhance its effectiveness, especially in cases resistant to CD19 treatment.
  • The combination therapy showed significant potential in improving therapeutic responses in various BCP-ALL models, indicating it could be a promising option for relapsed and resistant patients.
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Background: Gastroschisis is a serious birth defect with midgut prolapse into the amniotic cavity. The objectives of this study were to evaluate the prevalence and time trends of gastroschisis among programs in the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), focusing on regional variations and maternal age changes in the population.

Methods: We analyzed data on births from 1980 to 2017 from 27 ICBDSR member programs, representing 24 countries and three regions (Europe , Latin America, North America).

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Background: The purpose of this study was to evaluate the timing of the first cardiac surgery, the number of cardiac surgeries performed, and 30-day postoperative mortality rate for children with severe congenital heart defects (sCHDs) in their first 5 years of life.

Methods And Results: This was a population-based data linkage cohort study linking information from 9 European congenital anomaly registries to vital statistics and hospital databases. Data were extracted for 5693 children with sCHDs born from 1995 to 2004.

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Many human teratogens are associated with a spectrum of congenital anomalies rather than a single defect, and therefore the identification of congenital anomalies occurring together more frequently than expected may improve the detection of teratogens. Thirty-two EUROCAT congenital anomaly registries covering 6,599,765 births provided 123,566 cases with one or more major congenital anomalies (excluding chromosomal and genetic syndromes) for the birth years 2008-2016. The EUROCAT multiple congenital anomaly algorithm identified 8804 cases with two or more major congenital anomalies in different organ systems, that were not recognized as part of a syndrome or sequence.

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Label-free identification of tumor cells using spectroscopic assays has emerged as a technological innovation with a proven ability for rapid implementation in clinical care. Machine learning facilitates the optimization of processing and interpretation of extensive data, such as various spectroscopy data obtained from surgical samples. The here-described preclinical work investigates the potential of machine learning algorithms combining confocal Raman spectroscopy to distinguish non-differentiated glioblastoma cells and their respective isogenic differentiated phenotype by means of confocal ultra-rapid measurements.

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Article Synopsis
  • The study estimates the global prevalence and mortality rates of cleft lip with cleft palate (CLP) using data from various birth defect registries from 1974 to 2014.
  • The overall prevalence of CLP was found to be 6.4 cases per 10,000 births, with variations noted by region and pregnancy outcomes, particularly higher elective terminations in Europe.
  • Survival rates for CLP were generally high at 91%, with isolated cases showing 97.7% survival, while those with multiple anomalies had lower survival rates of 77.1%, and genetic syndromes marked a further decline to 40.9%.
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Background: Congenital cytomegalovirus (CMV) infection is the most common congenital infection worldwide and one of the leading causes of congenital hearing loss in newborns. The aim of this study was to determine the seroprevalence rate for cytomegalovirus in pregnant women and the rate of CMV serological testing utilised during pregnancy in a rural region in Germany.

Methods: Retrospective data on the prevalence of CMV IgG and IgM antibodies were obtained from 3,800 women, identified in the study group of 19,511 pregnant women from outpatient settings whose samples were collected between 1 and 2014 and 30 April 2018.

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Aim: Children with congenital anomalies often require surgery but data on the burden of surgery for these children are limited.

Methods: A population-based record-linkage study in Finland, Wales and regions of Denmark, England, Italy and Spain. A total of 91 504 children with congenital anomalies born in 1995-2014 were followed to their tenth birthday or the end of 2015.

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Article Synopsis
  • A study was conducted to explore the relationship between maternal age and the prevalence of congenital heart defects (CHD) in Europe from 1995 to 2015 using data from the EUROCAT network, amidst conflicting evidence on this topic.
  • The research showed that CHD prevalence was higher in both younger mothers (≤24 years) and older mothers (35-44 years) compared to those aged 25-29 years, with specific severe CHD types more commonly seen in younger mothers.
  • The study identified increased prevalence rates for certain CHD subtypes, including double outlet right ventricle and hypoplastic heart syndromes, highlighting varying risks associated with different maternal age groups.
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Amniotic band syndrome (ABS) and limb body wall complex (LBWC) have an overlapping phenotype of multiple congenital anomalies and their etiology is unknown. We aimed to determine the prevalence of ABS and LBWC in Europe from 1980 to 2019 and to describe the spectrum of congenital anomalies. In addition, we investigated maternal age and multiple birth as possible risk factors for the occurrence of ABS and LBWC.

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Article Synopsis
  • Congenital anomalies significantly contribute to infant mortality rates globally, and this study focuses on their prevalence and survival rates in Saxony-Anhalt, Germany.
  • Data from 1,012 cases of nine major congenital anomalies were analyzed, revealing a prevalence range from 2.5 to 5.8 per 10,000, with a notable 1-year survival rate of 61.7% when including all pregnancy outcomes.
  • Factors such as gestational age and birth weight were found to negatively impact survival, and the study highlights the importance of comprehensive data collection for accurate survival analysis.
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Background: Study aimed to assess awareness of congenital cytomegalovirus (CMV) infection and its determinants in pregnancy.

Methods: Cross-sectional survey was conducted in five hospital-based maternity units in Germany. Pregnant women attending the maternity departments completed interviewer/self-administered survey questionnaire.

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Article Synopsis
  • Younger mothers in the UK face a higher risk of pregnancy complications like gastroschisis, which is linked to vascular disruptions, prompting a study to explore the prevalence of other similar anomalies in this demographic.
  • An analysis of data from 26 European congenital anomaly registries revealed that the UK had a significantly higher prevalence of vascular disruption anomalies (8.85 per 10,000 births) compared to other European countries (5.44 per 10,000 births), even after adjusting for maternal age.
  • The study found that younger mothers had increased rates of anomalies like gastroschisis and congenital constriction bands, while anomalies with weaker links to maternal age, such as transverse limb reduction defects,
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Epidemiology of aplasia cutis congenita: A population-based study in Europe.

J Eur Acad Dermatol Venereol

March 2023

Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Pisa, Italy.

Article Synopsis
  • Aplasia cutis congenita (ACC) is a rare skin condition present at birth, primarily affecting the scalp, with most knowledge derived from individual case reports and small studies.
  • This study utilized data from a large European network (EUROCAT) to assess the prevalence and trends of ACC across 28 registries in 16 European countries, finding 500 cases from 1998-2017.
  • Results showed an ACC prevalence of 5.10 per 100,000 births, with significant prevalence variation across regions, and many cases (33.8%) were associated with other congenital anomalies, particularly Patau syndrome and limb defects.
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Objective: To report and compare the proportion of children with and without congenital anomalies undergoing gastrostomy for tube feeding in their first 5 years.

Methods: A European, population-based data-linkage cohort study (EUROlinkCAT). Children up to 5 years of age registered in nine EUROCAT registries (national and regional) in six countries and children without congenital anomalies (reference children) living in the same geographical areas were included.

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Background: Congenital anomalies are a major cause of perinatal, neonatal and infant mortality.

Objectives: The aim was to investigate temporal changes and geographical variation in survival of children with major congenital anomalies (CA) in different European areas.

Methods: In this population-based linkage cohort study, 17 CA registries members of EUROCAT, the European network for the surveillance of CAs, successfully linked data on 115,219 live births with CAs to mortality records.

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Prevention of Neural Tube Defects in Europe: A Public Health Failure.

Front Pediatr

June 2021

Spanish Collaborative Study of Congenital Malformations (ECEMC), Unidad de Investigación sobre Anomalías Congénitas, Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain.

Thirty years ago it was demonstrated that folic acid taken before pregnancy and in early pregnancy reduced the risk of a neural tube defect (NTD). Despite Public Health Initiatives across Europe recommending that women take 0.4 mg folic acid before becoming pregnant and during the first trimester, the prevalence of NTD pregnancies has not materially decreased in the EU since 1998, in contrast to the dramatic fall observed in the USA.

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Article Synopsis
  • Pierre Robin sequence (PRS) is a rare birth defect primarily causing respiratory and feeding challenges, and this study aimed to understand its epidemiology through data collected across Europe from 1998-2017.
  • Out of over 11 million births, 1,294 cases of PRS were identified, resulting in a prevalence rate of 12 per 100,000 births, with isolated cases being more common than those associated with other anomalies.
  • Findings indicated that older maternal age is linked to a higher prevalence of PRS, while survival rates were significantly lower for cases with additional chromosomal or structural anomalies compared to isolated cases, suggesting a need for further research into the factors contributing to PRS.
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Introduction: Knowledge on the safety of medication use during pregnancy is often sparse. Pregnant women are generally excluded from clinical trials, and there is a dependence on post-marketing surveillance to identify teratogenic medications.

Aims: This study aimed to identify signals of potentially teratogenic medications using EUROmediCAT registry data on medication exposure in pregnancies with a congenital anomaly, and to investigate the use of VigiBase reports of adverse events of medications in the evaluation of these signals.

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Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs.

Birth Defects Res

July 2021

Child Population and Translational Health Research, Children's Hospital at Westmead Clinical School, University of Sydney, Sydney, Australia.

Background: Esophageal atresia (EA) affects around 2.3-2.6 per 10,000 births world-wide.

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This study investigated the risk of congenital heart defects (CHD) and other congenital anomalies (CA) associated with first trimester use of macrolide antibiotics (mainly erythromycin, spiramycin, clarithromycin and azithromycin) and lincosamides (clindamycin) using a case-malformed control design. Data included 145,936 babies with a CA diagnosis (livebirths, stillbirths and terminations of pregnancy for CA) from 15 population-based EUROCAT registries in 13 European countries, covering 9 million births 1995-2012. Cases were babies with CHD, anencephaly, orofacial clefts, genital and limb reduction anomalies associated with antibiotic exposure in the literature.

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Background: Prevalence of neural tube defects (NTD) has not decreased in Germany despite longstanding recommendations for folic acid supplementation. To examine the prevalence of periconceptional folic acid supplement use and associated factors among German women of reproductive age.

Methods: Cross-sectional survey was conducted in hospital-based maternity units in rural Germany.

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