Epidemiology of Cleft Palate in Europe: Implications for Genetic Research

2004 ◽  
Vol 41 (3) ◽  
pp. 244-249 ◽  
Author(s):  
Elisa Calzolari ◽  
Fabrizio Bianchi ◽  
Michele Rubini ◽  
Annukka Ritvanen ◽  
Amanda J. Neville
Keyword(s):  
Cleft Palate ◽  
Genetic Research ◽  
Complex Model ◽  
High Prevalence ◽  
Induced Abortions ◽  
Different Populations ◽  
Epidemiological Evaluation ◽  
Specific Association ◽  
Biological Differences

Objective To describe the epidemiology of cleft palate (CP) in Europe. Design and Setting A descriptive epidemiological study on 3852 cases of CP, identified (1980 through 1996) from more than 6 million births from the EUROCAT network of 30 registers in 16 European countries. Results Significant differences in prevalence in Europe between registries and within countries were observed. A total of 2112 (54.8%) CP cases occurred as isolated, 694 (18.0%) were associated with other defects such as multiple congenital anomalies, and 1046 (27.2%) were in recognized conditions. The study confirmed the tendency toward female prevalence (sex ratio [SR] = 0.83), particularly among isolated cases (SR = 0.78) even if SR inversion is reported in some registries. A specific association with neural tube defects (NTDs) in some registers is reported. Conclusion The differences identified in Europe (prevalence, sex, associated anomalies) can be only partially explained by methodological reasons because a common methodology was shared among all registries for case ascertainment and collection, and CP is an easy detectable condition with few induced abortions. The complex model of inheritance and the frequently conflicting results in different populations on the role of genes that constitute risk factors suggest the presence of real biological differences. The association of CP/NTD in an area with a high prevalence of NTDs can identify a group of conditions that can be considered etiologically homogeneous. The epidemiological evaluation can guide genetic research to specify the role of etiological factors in each different population

Race on Both Sides of the Razor

2018 ◽  
Vol 5 (1) ◽  
Author(s):  
Terence D. Keel
Keyword(s):  
Social Constructionism ◽  
Political Correctness ◽  
Genetic Basis ◽  
Genetic Research ◽  
Scientific Progress ◽  
Social Constructionist ◽  
Behavioral Differences ◽  
Social Activists ◽  
Continued Use ◽  
Biological Differences

The proliferation of studies declaring that there is a genetic basis to health disparities and behavioral differences across the so-called races has encouraged the opponents of social constructionism to assert a victory for scientific progress over political correctness. I am not concerned in this essay with providing a response to critics who believe races are expressions of innate genetic or biological differences. Instead, I am interested in how genetic research on human differences has divided social constructionists over whether the race concept in science can be used for social justice and redressing embodied forms of discrimination. On one side, there is the position that race is an inherently flawed concept and that its continued use by scientists, medical professionals, and even social activists keeps alive the notion that it has a biological basis. On the other side of this debate are those who maintain a social constructionist position yet argue that not all instances of race in science stem from discriminatory politics or the desire to prove that humans belong to discrete biological units that can then be classified as superior or inferior. I would like to shift this debate away from the question of whether race is real and move instead toward thinking about the intellectual commitments necessary for science to expose past legacies of discrimination.

scholarly journals Adenoidectomy for middle ear disease in cleft palate children: a systematic review

2021 ◽  
Author(s):  
Cecilia Rosso ◽  
Antonio Mario Bulfamante ◽  
Carlotta Pipolo ◽  
Emanuela Fuccillo ◽  
Alberto Maccari ◽  
...  
Keyword(s):  
Systematic Review ◽  
Cleft Palate ◽  
Otitis Media ◽  
Middle Ear ◽  
Acute Otitis Media ◽  
Case Series ◽  
Velopharyngeal Insufficiency ◽  
Middle Ear Disease ◽  
Conductive Hearing

Abstract Purpose Cleft palate children have a higher incidence of otitis media with effusion, more frequent recurrent acute otitis media episodes, and worse conductive hearing losses than non-cleft children. Nevertheless, data on adenoidectomy for middle ear disease in this patient group are scarce, since many feared worsening of velopharyngeal insufficiency after the procedure. This review aims at collecting the available evidence on this subject, to frame possible further areas of research and interventions. Methods A PRISMA-compliant systematic review was performed. Multiple databases were searched with criteria designed to include all studies focusing on the role of adenoidectomy in treating middle ear disease in cleft palate children. After duplicate removal, abstract and full-text selection, and quality assessment, we reviewed eligible articles for clinical indications and outcomes. Results Among 321 unique citations, 3 studies published between 1964 and 1972 (2 case series and a retrospective cohort study) were deemed eligible, with 136 treated patients. The outcomes were positive in all three articles in terms of conductive hearing loss improvement, recurrent otitis media episodes reduction, and effusive otitis media resolution. Conclusion Despite promising results, research on adenoidectomy in treating middle ear disease in the cleft population has stopped in the mid-Seventies. No data are, therefore, available on the role of modern conservative adenoidectomy techniques (endoscopic and/or partial) in this context. Prospective studies are required to define the role of adenoidectomy in cleft children, most interestingly in specific subgroups such as patients requiring re-tympanostomy, given their known risk of otologic sequelae.

Maternal and paternal unsupportive parenting and children's externalizing symptoms: The mediational role of children's attention biases to negative emotion

2021 ◽  
pp. 1-17
Author(s):  
Patrick T. Davies ◽  
Morgan J. Thompson ◽  
Jesse L. Coe ◽  
Melissa L. Sturge-Apple
Keyword(s):  
Developmental Psychopathology ◽  
Negative Emotion ◽  
Negative Emotions ◽  
Externalizing Symptoms ◽  
Family Adversity ◽  
Children's Attention ◽  
Specific Association ◽  
Mediational Role ◽  
And Behavior

Abstract This study examined children's duration of attention to negative emotions (i.e., anger, sadness, fear) as a mediator of associations among maternal and paternal unsupportive parenting and children's externalizing symptoms in a sample of 240 mothers, fathers, and their preschool children (Mage = 4.64 years). The multimethod, multi-informant design consisted of three annual measurement occasions. Analysis of maternal and paternal unsupportive parenting as predictors in latent difference changes in children's affect-biased attention and behavior problems indicated that children's attention to negative emotions mediated the specific association between maternal unsupportive parenting and children's subsequent increases in externalizing symptoms. Maternal unsupportive parenting at Wave 1 predicted decreases in children's attention to negative facial expressions of adults from Wave 1 to 2. Reductions in children's attention to negative emotion, in turn, predicted increases in their externalizing symptoms from Wave 1 to 3. Additional tests of children's fearful distress and hostile responses to parental conflict as explanatory mechanisms revealed that increases in children's fearful distress reactivity from Wave 1 to 2 accounted for the association between maternal unsupportive parenting and concomitant decreases in their attention to negative emotions. Results are discussed in the context of information processing models of family adversity and developmental psychopathology.

scholarly journals Anti-phospholipid syndrome and COVID-19 thrombosis: connecting the dots

2021 ◽  
Vol 5 (1) ◽  
Author(s):  
Moon Ley Tung ◽  
Bryce Tan ◽  
Robin Cherian ◽  
Bharatendu Chandra
Keyword(s):  
Endothelial Dysfunction ◽  
Severe Acute Respiratory Syndrome ◽  
Potential Role ◽  
Molecular Mimicry ◽  
Thromboembolic Events ◽  
The Past ◽  
High Prevalence ◽  
Connecting The Dots ◽  
Anti Phospholipid Syndrome

Abstract As the coronavirus disease 2019 (COVID-19) pandemic, which is caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), is spreading rapidly worldwide, it has emerged as a leading cause of mortality, resulting in >1 million deaths over the past 10 months. The pathophysiology of COVID-19 remains unclear, posing a great challenge to the medical management of patients. Recent studies have reported an unusually high prevalence of thromboembolic events in COVID-19 patients, although the mechanism remains elusive. Several studies have reported the presence of aPLs in COVID-19 patients. We have noticed similarities between COVID-19 and APS, which is an autoimmune prothrombotic disease that is often associated with an infective aetiology. Molecular mimicry and endothelial dysfunction could plausibly explain the mechanism of thrombogenesis in acquired APS. In this review, we discuss the clinicopathological similarities between COVID-19 and APS, and the potential role of therapeutic targets based on the anti-phospholipid model for COVID-19 disease.

scholarly journals Patterns of Periodontal Destruction among Smokeless Tobacco Users in a Central Indian Population

Healthcare ◽  
2021 ◽  
Vol 9 (6) ◽  
pp. 744
Author(s):  
Pradeep S. Anand ◽  
Supriya Mishra ◽  
Deepti Nagle ◽  
Namitha P. Kamath ◽  
Kavitha P. Kamath ◽  
...  
Keyword(s):  
Smokeless Tobacco ◽  
Tobacco Consumption ◽  
Periodontal Health ◽  
Clinical Attachment Loss ◽  
Periodontal Tissues ◽  
Probing Depth ◽  
High Prevalence ◽  
Periodontal Destruction ◽  
Different Populations ◽  
Oral Hygiene Habits

Background: Findings of studies testing the association between smokeless tobacco (SLT) use and periodontal health have shown varying results in different populations. Considering the high prevalence of SLT use in India, the present study was conducted to understand the pattern of periodontal destruction within different areas of the dentition among SLT users. Methods: Age, gender, oral hygiene habits, the frequency and duration of SLT consumption, the type of SLT product used, and the site of retention of the SLT product in the oral cavity were recorded among 90 SLT users. Probing depth (PD), recession (REC), and clinical attachment loss (CAL) at SLT-associated and non SLT-associated teeth of the mandibular arch were compared based on the site of retention of the SLT product, the type of product used, and the duration of the habit. Results: REC and CAL were significantly higher at the SLT-associated zones compared to non SLT-associated zones and at both interproximal and mid-buccal sites of SLT-associated teeth. Among individuals who had the habit for more than 5 years and also among those who had the habit for 5–10 years, PD, REC, and CAL were significantly higher at SLT-associated teeth than at non SLT-associated teeth. Significantly greater periodontal destruction was observed at SLT-associated teeth among khaini users and gutkha users. Conclusions: Smokeless tobacco consumption resulted in greater destruction of periodontal tissues. The severity of periodontal destruction at SLT-associated sites differed depending on the type of smokeless tobacco used, the site of retention of the SLT, and the duration of the habit.

scholarly journals Revisiting Konzo Risk Factors in Three Areas Differently Affected by Spastic Paraparesis in Eastern Democratic Republic of the Congo Discloses a Prominent Role of the Nutritional Status—A Comparative Cross-Sectional Study

Nutrients ◽  
2021 ◽  
Vol 13 (8) ◽  
pp. 2628
Author(s):  
Marius Baguma ◽  
Espoir Bwenge Malembaka ◽  
Esto Bahizire ◽  
Germain Zabaday Mudumbi ◽  
Dieudonné Bahati Shamamba ◽  
...  
Keyword(s):  
Risk Factors ◽  
Nutritional Status ◽  
Democratic Republic ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cyanide Poisoning ◽  
Cross Sectional ◽  
High Prevalence ◽  
Republic Of The Congo

This comparative cross-sectional study aimed to better understand the respective contributions of protein malnutrition and cassava-derived cyanide poisoning in the development of konzo. We compared data on nutritional status and cyanide exposure of school-age adolescent konzo-diseased patients to those of non-konzo subjects of similar age from three areas in the Eastern Democratic Republic of the Congo. Our results show that konzo patients had a high prevalence of both wasting (54.5%) and stunting (72.7%), as well as of cyanide poisoning (81.8%). Controls from Burhinyi and those from Idjwi showed a similar profile with a low prevalence of wasting (3.3% and 6.5%, respectively) and intermediate prevalence of stunting (26.7% and 23.9%, respectively). They both had a high prevalence of cyanide poisoning (50.0% and 63.0%, respectively), similar to konzo-patients. On the other hand, controls from Bukavu showed the lowest prevalence of both risk factors, namely chronic malnutrition (12.1%) and cyanide poisoning (27.6%). In conclusion, cassava-derived cyanide poisoning does not necessarily coexist with konzo outbreaks. The only factor differentiating konzo patients from healthy individuals exposed to cyanide poisoning appeared to be their worse nutritional status. This further suggests that, besides the known role of cyanide poisoning in the pathogenesis of konzo, malnutrition may be a key factor for the disease occurrence.

scholarly journals The impact of participation in genetic research for families with cleft lip with and without cleft palate: a qualitative study

2014 ◽  
Vol 5 (3) ◽  
pp. 249-256 ◽  
Author(s):  
Lynley J. Donoghue ◽  
Margaret A. Sahhar ◽  
Ravi Savarirayan ◽  
Supriya Raj ◽  
Nicky M. Kilpatrick ◽  
...  
Keyword(s):  
Qualitative Study ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Genetic Research ◽  
The Impact
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