Implant-retained craniofacial prostheses for facial defects

PubMed Central

Federspil, Philipp A.

2012-01-01

Craniofacial prostheses, also known as epistheses, are artificial substitutes for facial defects. The breakthrough for rehabilitation of facial defects with implant-retained prostheses came with the development of the modern silicones and bone anchorage. Following the discovery of the osseointegration of titanium in the 1950s, dental implants have been made of titanium in the 1960s. In 1977, the first extraoral titanium implant was inserted in a patient. Later, various solitary extraoral implant systems were developed. Grouped implant systems have also been developed which may be placed more reliably in areas with low bone presentation, as in the nasal and orbital region, or the ideally pneumatised mastoid process. Today, even large facial prostheses may be securely retained. The classical atraumatic surgical technique has remained an unchanged prerequisite for successful implantation of any system. This review outlines the basic principles of osseointegration as well as the main features of extraoral implantology. PMID:22073096

Teratology: from science to birth defects prevention.

PubMed

Rasmussen, Sonja A; Erickson, J David; Reef, Susan E; Ross, Danielle S

2009-01-01

One of the goals of birth defects research is to better understand risk or preventive factors for birth defects so that strategies for prevention can be developed. In this article, we have selected four areas of birth defects research that have led to the development of prevention strategies. These areas include rubella virus as a cause of congenital rubella syndrome, folic acid as a preventive factor for neural tube defects, cytomegalovirus infection as a cause of birth defects and developmental disabilities, and alcohol as a cause of fetal alcohol spectrum disorders. For each of these areas, we review key clinical and research findings that led to the identification of the risk or preventive factor, milestones in the development of prevention strategies, and the progress made thus far toward prevention.

Agricultural Compounds in Water and Birth Defects.

PubMed

Brender, Jean D; Weyer, Peter J

2016-06-01

Agricultural compounds have been detected in drinking water, some of which are teratogens in animal models. The most commonly detected agricultural compounds in drinking water include nitrate, atrazine, and desethylatrazine. Arsenic can also be an agricultural contaminant, although arsenic often originates from geologic sources. Nitrate has been the most studied agricultural compound in relation to prenatal exposure and birth defects. In several case-control studies published since 2000, women giving birth to babies with neural tube defects, oral clefts, and limb deficiencies were more likely than control mothers to be exposed to higher concentrations of drinking water nitrate during pregnancy. Higher concentrations of atrazine in drinking water have been associated with abdominal defects, gastroschisis, and other defects. Elevated arsenic in drinking water has also been associated with birth defects. Since these compounds often occur as mixtures, it is suggested that future research focus on the impact of mixtures, such as nitrate and atrazine, on birth defects.

Increased prevalence of some birth defects in Korea, 2009-2010.

PubMed

Lamichhane, Dirga Kumar; Leem, Jong-Han; Park, Myungsook; Kim, Jung Ae; Kim, Hwan Cheol; Kim, Jin Hee; Hong, Yun-Chul

2016-03-22

Birth defects are a leading cause of neonatal and infant mortality, and several studies have indicated an increase in the prevalence of birth defects; more recent investigations have suggested that the trends of some defects are increasing in rapidly industrialized areas. This study estimates the prevalence rate and types of birth defects in Korea. This study used medical insurance benefit data of 403,250 infants aged less than one year from the National Health Insurance Corporation from seven metropolitan areas in Korea for 2009 and 2010. The prevalence rate of birth defects was 548.3 per 10,000 births (95% CI: 541.1-555.6), 306.8 among boys and 241.5 among girls. Anomalies of the circulatory system (particularly septal defects) were the most common (180.8 per 10,000), followed by defects of the genitourinary tract (130.1 per 10,000) (particularly obstructive genitourinary and undescended testis), musculoskeletal system (105.7 per 10,000), digestive system (24.7 per 10,000), and central nervous system (15.6 per 10,000). Relatively higher rates of some birth defects were found in the metropolitan areas. The high differences of birth prevalences for septal heart defects and undescended testis are probably due in part to progress in clinical management and more frequent prenatal diagnosis. Environmental exposure might play a critical role in the development of some birth defects. In attempting to describe the prevalence and spatio-temporal variations of birth defects in Korea, establishment of a registry system of birth defects and environmental surveillance are needed.

Virtual transplantation in designing a facial prosthesis for extensive maxillofacial defects that cross the facial midline using computer-assisted technology.

PubMed

Feng, Zhi-hong; Dong, Yan; Bai, Shi-zhu; Wu, Guo-feng; Bi, Yun-peng; Wang, Bo; Zhao, Yi-min

2010-01-01

The aim of this article was to demonstrate a novel approach to designing facial prostheses using the transplantation concept and computer-assisted technology for extensive, large, maxillofacial defects that cross the facial midline. The three-dimensional (3D) facial surface images of a patient and his relative were reconstructed using data obtained through optical scanning. Based on these images, the corresponding portion of the relative's face was transplanted to the patient's where the defect was located, which could not be rehabilitated using mirror projection, to design the virtual facial prosthesis without the eye. A 3D model of an artificial eye that mimicked the patient's remaining one was developed, transplanted, and fit onto the virtual prosthesis. A personalized retention structure for the artificial eye was designed on the virtual facial prosthesis. The wax prosthesis was manufactured through rapid prototyping, and the definitive silicone prosthesis was completed. The size, shape, and cosmetic appearance of the prosthesis were satisfactory and matched the defect area well. The patient's facial appearance was recovered perfectly with the prosthesis, as determined through clinical evaluation. The optical 3D imaging and computer-aided design/computer-assisted manufacturing system used in this study can design and fabricate facial prostheses more precisely than conventional manual sculpturing techniques. The discomfort generally associated with such conventional methods was decreased greatly. The virtual transplantation used to design the facial prosthesis for the maxillofacial defect, which crossed the facial midline, and the development of the retention structure for the eye were both feasible.

Combined flaps based on the superficial temporal vascular system for reconstruction of facial defects.

PubMed

Zhou, Renpeng; Wang, Chen; Qian, Yunliang; Wang, Danru

2015-09-01

Facial defects are multicomponent deficiencies rather than simple soft-tissue defects. Based on different branches of the superficial temporal vascular system, various tissue components can be obtained to reconstruct facial defects individually. From January 2004 to December 2013, 31 patients underwent reconstruction of facial defects with composite flaps based on the superficial temporal vascular system. Twenty cases of nasal defects were repaired with skin and cartilage components, six cases of facial defects were treated with double island flaps of the skin and fascia, three patients underwent eyebrow and lower eyelid reconstruction with hairy and hairless flaps simultaneously, and two patients underwent soft-tissue repair with auricular combined flaps and cranial bone grafts. All flaps survived completely. Donor-site morbidity is minimal, closed primarily. Donor areas healed with acceptable cosmetic results. The final outcome was satisfactory. Combined flaps based on the superficial temporal vascular system are a useful and versatile option in facial soft-tissue reconstruction. Copyright © 2015 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

Risk comparison for prenatal use of analgesics and selected birth defects, National Birth Defects Prevention Study 1997-2011.

PubMed

Interrante, Julia D; Ailes, Elizabeth C; Lind, Jennifer N; Anderka, Marlene; Feldkamp, Marcia L; Werler, Martha M; Taylor, Lockwood G; Trinidad, James; Gilboa, Suzanne M; Broussard, Cheryl S

2017-10-01

To compare the use of nonsteroidal anti-inflammatory drugs (NSAIDs) and/or opioids to the use of acetaminophen without NSAIDs or opioids with respect to associations with birth defects. We used data from the National Birth Defects Prevention Study (1997-2011). Exposure was self-reported maternal analgesic use from the month before through the third month of pregnancy (periconceptional). Adjusted odds ratios (aORs) were calculated to examine associations with 16 birth defects. Compared to acetaminophen, mothers reporting NSAIDs were significantly more likely to have offspring with gastroschisis, hypospadias, cleft palate, cleft lip with cleft palate, cleft lip without cleft palate, anencephaly, spina bifida, hypoplastic left heart syndrome, pulmonary valve stenosis, and tetralogy of Fallot (aOR range, 1.2-1.6). Opioids were associated with tetralogy of Fallot, perimembranous ventricular septal defect, and ventricular septal defect with atrial septal defect (aOR range, 1.8-2.3), whereas use of both opioids and NSAIDs was associated with gastroschisis, cleft palate, spina bifida, hypoplastic left heart syndrome, and pulmonary valve stenosis (aOR range, 2.0-2.9). Compared to periconceptional use of acetaminophen, selected birth defects occurred more frequently among infants of women using NSAIDs and/or opioids. However, we could not definitely determine whether these risks relate to the drugs or to indications for treatment. Published by Elsevier Inc.

Fostering International Collaboration in Birth Defects Research and Prevention: A Perspective From the International Clearinghouse for Birth Defects Surveillance and Research

PubMed Central

Botto, Lorenzo D.; Robert-Gnansia, Elisabeth; Siffel, Csaba; Harris, John; Borman, Barry; Mastroiacovo, Pierpaolo

2006-01-01

The International Clearing-house for Birth Defects Surveillance and Research, formerly known as International Clearinghouse of Birth Defects Monitoring Systems, consists of 40 registries worldwide that collaborate in monitoring 40 types of birth defects. Clearinghouse activities include the sharing and joint monitoring of birth defect data, epidemiologic and public health research, and capacity building, with the goal of reducing disease and promoting healthy birth outcomes through primary prevention. We discuss 3 of these activities: the collaborative assessment of the potential teratogenicity of first-trimester use of medications (the MADRE project), an example of the intersection of surveillance and research; the international databases of people with orofacial clefts, an example of the evolution from surveillance to outcome research; and the study of genetic polymorphisms, an example of collaboration in public health genetics. PMID:16571708

Agrichemicals in surface water and birth defects in the United States

PubMed Central

Winchester, Paul D; Huskins, Jordan; Ying, Jun

2009-01-01

Objectives: To investigate if live births conceived in months when surface water agrichemicals are highest are at greater risk for birth defects. Methods: Monthly concentrations during 1996–2002 of nitrates, atrazine and other pesticides were calculated using United States Geological Survey's National Water Quality Assessment data. Monthly United States birth defect rates were calculated for live births from 1996 to 2002 using United States Centers for Disease Control and Prevention natality data sets. Birth defect rates by month of last menstrual period (LMP) were then compared to pesticide/nitrate means using logistical regression models. Results: Mean concentrations of agrichemicals were highest in April–July. Total birth defects, and eleven of 22 birth defect subcategories, were more likely to occur in live births with LMPs between April and July. A significant association was found between the season of elevated agrichemicals and birth defects. Conclusion: Elevated concentrations of agrichemicals in surface water in April–July coincided with higher risk of birth defects in live births with LMPs April–July. While a causal link between agrichemicals and birth defects cannot be proven from this study an association might provide clues to common factors shared by both variables. PMID:19183116

Maternal butalbital use and selected defects in the national birth defects prevention study.

PubMed

Browne, Marilyn L; Van Zutphen, Alissa R; Botto, Lorenzo D; Louik, Carol; Richardson, Sandra; Druschel, Charlotte M

2014-01-01

Butalbital is a barbiturate contained in combination products with caffeine and an analgesic prescribed for the treatment of migraine and tension-type headaches. Controversy exists as to whether butalbital should continue to be prescribed in the United States because of the potential for abuse, overuse headache, and withdrawal syndromes. Butalbital crosses the placenta but there is limited information about potential teratogenicity. To evaluate associations between butalbital and a wide range of specific birth defects. The National Birth Defects Prevention Study is an ongoing, case-control study of nonsyndromic, major birth defects conducted in 10 states. The detailed case classification and large number of cases in the National Birth Defects Prevention Study allowed us to examine the association between maternal self-reported butalbital use and specific birth defects. We conducted an analysis of 8373 unaffected controls and 21,090 case infants with estimated dates of delivery between 1997 and 2007; included were birth defects with 250 or more cases. An exploratory analysis examined groups with 100 to 249 cases. Seventy-three case mothers and 15 control mothers reported periconceptional butalbital use. Of 30 specific defect groups evaluated, adjusted odds ratios for maternal periconceptional butalbital use were statistically significant for 3 congenital heart defects: tetralogy of Fallot (adjusted odds ratio = 3.04; 95% confidence interval = 1.07-8.62), pulmonary valve stenosis (adjusted odds ratio = 5.73; 95% confidence interval = 2.25-14.62), and secundum-type atrial septal defect (adjusted odds ratio = 3.06; 95% confidence interval = 1.07-8.79). In the exploratory analysis, an elevated odds ratio was detected for 1 congenital heart defect, single ventricle. We observed relationships between maternal periconceptional butalbital use and certain congenital heart defects. These associations have not been reported before, and some may be

[Case-control study on influence factors of birth defects].

PubMed

Xiu, Xin-hong; Yuan, Li; Wang, Xiao-ming; Chen, Yu-hua; Wan, Ai-hua; Fu, Ping

2011-07-01

To investigate the influence factors of birth defects. The congenital malformational fetuses born from 13 week of gestation to 7 days after birth were selected as the study group between April 1st, 2009 and March 31st, 2010. The health born fetuses were set as control in the same period. Case-control and the three-level of monitor network of birth defects were used in the study in the participating 75 hospitals (Qingdao Women and Children's Medical Center, Affiliated Hospital of Medical College Qingdao University, Qingdao Municipal Hospital, etc.). The study and control group's parents were interviewed by an uniformed questionnaire which was designed specially with influence factors of birth defects. (1) There are 466 congenital malformational fetuses in the total of 77 231 fetuses collected in 75 hospitals. The congenital malformational rate accounts for about 6.034‰. The top six defect diseases were congenital heart disease (112 cases), total harelip (cleft lip; cleft lip with palate: 85 cases), polydactyly (53 cases), neural tube defects (38 cases), congenital hydrocephalus (37 cases) and limb reduction defect (27 cases) in turn, which amounts to 353 cases (54.48%, 353/648). (2) Their mother education level in the birth-defect group (25.6%) were significantly lower than that in control group (30.0%, P<0.05). (3) The rate of passive smoking, drinking, raising pets of the parents in birth-defect group were significantly higher than that in control group (P<0.05). (4) The rate of exposure to harmful chemical and physical factors of mothers in birth defects group (13.9% and 20.5%, respectively) was higher than that in control group (1.1% and 11.7%, respectively), the difference between which were significant (P<0.01). The rate of disease (34.3%), fever (13.1%), taking drugs (33.8%) in pregnancy period in birth defect group were higher than that in control group (13.5%, 1.5% and 9.9%, respectively), the difference between which were significant (P<0.01). The rate

Reconstruction of Complex Facial Defects Using Cervical Expanded Flap Prefabricated by Temporoparietal Fascia Flap.

PubMed

Zhang, Ling; Yang, Qinghua; Jiang, Haiyue; Liu, Ge; Huang, Wanlu; Dong, Weiwei

2015-09-01

Reconstruction of complex facial defects using cervical expanded flap prefabricated by temporoparietal fascia flap. Complex facial defects are required to restore not only function but also aesthetic appearance, so it is vital challenge for plastic surgeons. Skin grafts and traditional flap transfer cannot meet the reconstructive requirements of color and texture with recipient. The purpose of this sturdy is to create an expanded prefabricated temporoparietal fascia flap to repair complex facial defects. Two patients suffered severe burns on the face underwent complex facial resurfacing with prefabricated cervical flap. The vasculature of prefabricated flap, including the superficial temporal vessel and surrounding fascia, was used as the vascular carrier. The temporoparietal fascia flap was sutured underneath the cervical subcutaneous tissue, and expansion was begun in postoperative 1 week. After 4 to 6 months of expansion, the expander was removed, facial scars were excised, and cervical prefabricated flap was elevated and transferred to repair the complex facial defects. Two complex facial defects were repaired successfully by prefabricated temporoparietal fascia flap, and prefabricated flaps survived completely. On account of donor site's skin was thinner and expanded too fast, 1 expanded skin flap was rupture during expansion, but necrosis was not occurred after the 2nd operation. Venous congestion was observed in 1 patient, but after dressing, flap necrosis was not happened. Donor site was closed primarily. Postoperative follow-up 6 months, the color, texture of prefabricated flap was well-matched with facial skin. This method of expanded prefabricated flap may provide a reliable solution to the complex facial resurfacing.

RESIDENTIAL RADON AND BIRTH DEFECTS: A POPULATION-BASED ASSESSMENT

PubMed Central

Langlois, Peter H; Lee, MinJae; Lupo, Philip J; Rahbar, Mohammad H; Cortez, Ruben K

2015-01-01

BACKGROUND Associations have been reported between maternal radiation exposure and birth defects. No such studies were found on radon. Our objective was to determine if there is an association between living in areas with higher radon levels and birth defects. METHODS The Texas Birth Defects Registry provided data on all birth defects from 1999–2009 from the entire state. Mean radon levels by geologic region came from the Texas Indoor Radon Survey. The association between radon and birth defects was estimated using multilevel mixed effect Poisson regression. RESULTS Birth defects overall were not associated with residential radon levels. Of the 100 other birth defect groups with at least 500 cases, 14 were significantly elevated in areas with high mean radon level in crude analyses, and 9 after adjustment for confounders. Cleft lip with/without cleft palate had an adjusted prevalence ratio (aPR) of 1.16 per 1 picoCurie/liter (pCi/l) increase in exposure to region mean radon, 95% confidence interval (CI) 1.08, 1.26. Cystic hygroma / lymphangioma had an aPR of 1.22 per 1 pCi/l increase, 95% CI 1.02, 1.46. Other associations were suggested but not as consistent: three skeletal defects, Down syndrome, other specified anomalies of the brain, and other specified anomalies of the bladder and urethra. CONCLUSIONS In the first study of residential radon and birth defects, we found associations with cleft lip w/wo cleft palate and cystic hygroma / lymphangioma. Other associations were suggested. The ecological nature of this study and multiple comparisons suggest that our results be interpreted with caution. PMID:25846606

Prenatal Nitrate Intake from Drinking Water and Selected Birth Defects in Offspring of Participants in the National Birth Defects Prevention Study

PubMed Central

Weyer, Peter J.; Romitti, Paul A.; Mohanty, Binayak P.; Shinde, Mayura U.; Vuong, Ann M.; Sharkey, Joseph R.; Dwivedi, Dipankar; Horel, Scott A.; Kantamneni, Jiji; Huber, John C.; Zheng, Qi; Werler, Martha M.; Kelley, Katherine E.; Griesenbeck, John S.; Zhan, F. Benjamin; Langlois, Peter H.; Suarez, Lucina; Canfield, Mark A.

2013-01-01

Background: Previous studies of prenatal exposure to drinking-water nitrate and birth defects in offspring have not accounted for water consumption patterns or potential interaction with nitrosatable drugs. Objectives: We examined the relation between prenatal exposure to drinking-water nitrate and selected birth defects, accounting for maternal water consumption patterns and nitrosatable drug exposure. Methods: With data from the National Birth Defects Prevention Study, we linked addresses of 3,300 case mothers and 1,121 control mothers from the Iowa and Texas sites to public water supplies and respective nitrate measurements. We assigned nitrate levels for bottled water from collection of representative samples and standard laboratory testing. Daily nitrate consumption was estimated from self-reported water consumption at home and work. Results: With the lowest tertile of nitrate intake around conception as the referent group, mothers of babies with spina bifida were 2.0 times more likely (95% CI: 1.3, 3.2) to ingest ≥ 5 mg nitrate daily from drinking water (vs. < 0.91 mg) than control mothers. During 1 month preconception through the first trimester, mothers of limb deficiency, cleft palate, and cleft lip cases were, respectively, 1.8 (95% CI: 1.1, 3.1), 1.9 (95% CI: 1.2, 3.1), and 1.8 (95% CI: 1.1, 3.1) times more likely than control mothers to ingest ≥ 5.42 mg of nitrate daily (vs. < 1.0 mg). Higher water nitrate intake did not increase associations between prenatal nitrosatable drug use and birth defects. Conclusions: Higher water nitrate intake was associated with several birth defects in offspring, but did not strengthen associations between nitrosatable drugs and birth defects. Citation: Brender JD, Weyer PJ, Romitti PA, Mohanty BP, Shinde MU, Vuong AM, Sharkey JR, Dwivedi D, Horel SA, Kantamneni J, Huber JC Jr., Zheng Q, Werler MM, Kelley KE, Griesenbeck JS, Zhan FB, Langlois PH, Suarez L, Canfield MA, and the National Birth Defects Prevention Study

Associations between Maternal Water Consumption and Birth Defects in the National Birth Defects Prevention Study (2000-2005).

PubMed

Alman, Breanna L; Coffman, Evan; Siega-Riz, Anna Maria; Luben, Thomas J

2017-02-15

Water and water-based beverages constitute a major part of daily fluid intake for pregnant women, yet few epidemiologic studies have investigated the role of water consumption on birth outcomes. We used data from the National Birth Defects Prevention Study to conduct a case-control study investigating associations between maternal water consumption during pregnancy and birth defects (BD). We used interview data on water consumption during the first trimester of pregnancy in 14,454 cases (major BDs n ≥ 50) and 5,063 controls. Total water consumption was analyzed as a continuous variable and in quartiles. We evaluated the role of dietary quality and sugar sweetened beverage consumption. Logistic regression models were used to assess effects of water consumption on risk of BDs with adjustment for relevant covariates. Mean daily maternal water consumption among controls was 4.4 eight-ounce glasses. We observed decreases in estimated risk associated with increases in water consumption for several BDs, including neural tube defects (spina bifida), oral clefts (cleft lip), musculoskeletal defects (gastroschisis, limb deficiencies), and congenital heart defects (hypoplastic left heart syndrome, right-sided obstructions, pulmonary valve stenosis). Our results were generally unchanged when an indicator for overall dietary quality was included; however, there was evidence of effect measure modification by heavy consumption of sugar-sweetened beverages for some defects, but not all. These analyses suggest the importance of sufficient water consumption during early pregnancy, above and beyond it being a marker of higher diet quality. Additional analyses are warranted to understand the biological mechanism for this association. Birth Defects Research 109:193-202, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Bendectin and birth defects. II: Ecological analyses.

PubMed

Kutcher, Jeffrey S; Engle, Arnold; Firth, Jacqueline; Lamm, Steven H

2003-02-01

Bendectin was the primary pharmaceutical treatment of nausea and vomiting of pregnancy (NVP) in the United States until the early 1980s. Its manufacture was then discontinued after public allegations that it was causing birth defects. Subsequently, meta-analyses of the many epidemiological cohort and case/control studies used to examine that hypothesis have demonstrated the absence of a detectable teratogenic effect. This study presents an ecological analysis of the same hypothesis that examines specific malformations. Annual birth defect prevalence data for the 1970s to the 1990s have been obtained for specific birth defects from the Center for Disease Control's nationwide Birth Defect Monitoring Program. These data for the US have been compared graphically to the annual US Bendectin sales for the treatment of NVP. Data have also been obtained for annual US rates for hospitalization for NVP. The three data sets have been temporally compared in graphic analysis. The temporal trends in prevalence rates for specific birth defects examined from 1970 through 1992 did not show changes that reflected the cessation of Bendectin use over the 1980-84 period. Further, the NVP hospitalization rate doubled when Bendectin use ceased. The population results of the ecological analyses complement the person-specific results of the epidemiological analyses in finding no evidence of a teratogenic effect from the use of Bendectin.

[Reliability of birth defect data on birth certificates of Rio de Janeiro, Brazil, 2004].

PubMed

Guerra, Fernando Antônio Ramos; Llerena, Juan Clinton; Gama, Silvana Granado Nogueira da; Cunha, Cynthia Braga da; Theme Filha, Mariza Miranda

2008-02-01

This study assessed the reliability of birth certificate data related to birth defects in Brazil's Live Birth Information System (SINASC). We selected 24 maternity hospitals in the Unified National Health System (SUS) and compared the reports of birth defects from birth certificates with medical records of mothers and live born infants in the city of Rio de Janeiro for the year 2004. After transposing the data to a specific form, the birth defects were coded by types and organ systems and compared to the SINASC data. The most commonly affected organs involved the central nervous and musculoskeletal systems. Agreement was more than 50% for the digestive, genitourinary, and musculoskeletal systems and chromosomal anomalies. Prevalence-adjusted kappa varied according to 2 or 3-digit ICD-10 analysis, with better results for the musculoskeletal, digestive, and genitourinary systems and congenital anomalies, and worse for the central nervous and cardio-circulatory systems, eye, neck, and ear malformations, and cleft lip and palate. The results were unsatisfactory, suggesting the need for more investments to train the persons responsible for completing birth certificates in maternity hospitals and develop a model for coding birth defects on these documents.

Microcephaly and Other Birth Defects: Zika

MedlinePlus

... Español (Spanish) Recommend on Facebook Tweet Share Compartir Zika and Microcephaly Microcephaly is a birth defect in ... pregnancy or has stopped growing after birth. Congenital Zika Syndrome Congenital Zika syndrome is a unique pattern ...

Using birth defects registry data to evaluate infant and childhood mortality associated with birth defects: an alternative to traditional mortality assessment using underlying cause of death statistics.

PubMed

Copeland, Glenn E; Kirby, Russell S

2007-11-01

Although birth defects are a leading cause of death in infancy and early childhood, the proportion of all deaths to children with clinically diagnosed birth defects is not well documented. The study is intended to measure the proportion of all deaths to infants and children under age 10 occurring to children with birth defects and how and why this proportion differs from the proportion of deaths due to an underlying cause of congenital anomalies using standard mortality statistics. A linked file of Michigan livebirths and deaths was combined with data from a comprehensive multisource birth defects registry of Michigan livebirths born during the years 1992 through 2000. The data were analyzed to determine the mortality rate for infants and children with birth defects and for children with no reported birth defect. Mortality risk ratios were calculated. The underlying causes of death for children with birth defects were also categorized and compared to cause- specific mortality rates for the general population. Congenital anomalies were the underlying cause of death for 17.8% of all infant deaths while infants with birth defects were 33.7% of all infant deaths in the study. Almost half of all Michigan deaths to children aged 1 to 2 were within the birth defects registry, though only 15.0% had an underlying cause of death of a congenital anomaly based upon standard mortality statistics. The mortality experience among children with birth defects was significantly higher than other children throughout the first 9 years of life, ranging from 4.6 for 5 year olds to 12.8 for children 1 to 2. Mortality risk ratios examined by cause of death for infants with birth defects were highest for other endocrine (28.1), other CNS (28.1), and heart (21.9) conditions. For children 1 through 9, the highest differential risk was seen for other perinatal conditions (39.0), other endocrine (29.7), other CNS (24.5), and heart (21.4). Childhood mortality analyses that incorporate birth

Combination prosthetic design providing a superior retention for mid-facial defect rehabilitation: A Case Report

PubMed Central

Nilanonth, Supassra; Shakya, Prana; Srithavaj, Theerathavaj

2017-01-01

Large maxillofacial defects from malignant tumor treatment are rarely rehabilitated by surgical reconstruction alone. Ameloblastic carcinoma, a rare aggressive odontogenic malignant tumor, requires wide surgical excision to gain a tumor-free margin. In the post-surgical defect, prosthetic rehabilitation is the treatment of choice to restore function and esthetics. Moreover, an intra-oral prosthesis such as an obturator restores speech, mastication and deglutition. Retention of the obturator is a major problem while rehabilitating large defects. The existing anatomical structures from the defect with the help of magnet attachments are suitable to enhance retention, stability and support of the prostheses. This case report presents a patient with an intraoral and extra-oral combination defect following surgical resection of ameloblastic carcinoma and describes the prosthetic techniques and design considerations for a magnet-retained obturator and mid-facial prosthesis. An implant-retained mid-facial prosthesis was fabricated. The retention of combined prostheses was obtained from the remaining right posterior teeth only. The patient had an unfavorable defect due to the large size and presence of scar contracture that vertically tends to dislodge the obturator. Magnet attachments were used to combine the facial and oral prosthesis, minimize the vertical dislodging forces and enhance retention. In addition, the retention was also gained from the scar band at lower border of mid-facial defect that avoided the need for more implants surgery. Magnet attachment with anatomical structure of the mid-facial defect provides an acceptable means of retention in large extraoral-intraoral combinations defects, improving the function, esthetic and the patients’ quality of life. Key words:Mid-facial prosthesis, obturator, magnet attachment, maxillectomy. PMID:28469829

EPIDEMIOLOGY STUDY OF BIRTH DEFECTS AND DISINFECTION BYPRODUCTS

EPA Science Inventory

Birth defects are the leading cause of infant mortality in the US, accounting for more than 20% of all infant deaths. In addition, birth defects are the fifth leading cause of years of potential lief life lost and contribute substantially to childhood morbidity and long-term disa...

Birth defects and genetic disorders among Arab Americans--Michigan, 1992-2003.

PubMed

Yanni, Emad A; Copeland, Glenn; Olney, Richard S

2010-06-01

Birth defects and genetic disorders are leading causes of infant morbidity and mortality in many countries. Population-based data on birth defects among Arab-American children have not been documented previously. Michigan has the second largest Arab-American community in the United States after California. Using data from the Michigan Birth Defects Registry (MBDR), which includes information on parents' country of birth and ancestry, birth prevalences were estimated in offspring of Michigan women of Arab ancestry for 21 major categories of birth defects and 12 congenital endocrine, metabolic, and hereditary disorders. Compared with other non-Hispanic white children in Michigan, Arab-American children had similar or lower birth prevalences of the selected types of structural birth defects, with higher rates of certain hereditary blood disorders and three categories of metabolic disorders. These estimates are important for planning preconception and antenatal health care, genetic counseling, and clinical care for Arab Americans.

Maternal report of fever from cold or flu during early pregnancy and the risk for noncardiac birth defects, National Birth Defects Prevention Study, 1997-2011.

PubMed

Waller, Dorothy Kim; Hashmi, Syed Shahrukh; Hoyt, Adrienne T; Duong, Hao T; Tinker, Sarah C; Gallaway, Michael Shayne; Olney, Richard S; Finnell, Richard H; Hecht, Jacqueline Tauber; Canfield, Mark A

2018-03-01

As maternal fever affects approximately 6-8% of early pregnancies, it is important to expand upon previous observations of an association between maternal fever and birth defects. We analyzed data from the National Birth Defects Prevention Study, a multistate, case-control study of major structural birth defects. Telephone interviews were completed by mothers of cases (n = 17,162) and controls (n = 10,127). Using multivariable logistic regression, we assessed the association between maternal self-report of cold or flu with fever and cold or flu without fever during early pregnancy and 30 categories of non-cardiac birth defects. Maternal report of cold or flu with fever was significantly associated with 8 birth defects (anencephaly, spina bifida, encephalocele, cleft lip with or without cleft palate, colonic atresia/stenosis, bilateral renal agenesis/hypoplasia, limb reduction defects, and gastroschisis) with elevated adjusted odds ratios ranging from 1.2 to 3.7. Maternal report of cold or flu without fever was not associated with any of the birth defects studied. This study adds to the evidence that maternal fever during early pregnancy is associated with an increased risk for selected birth defects. Elevated associations were limited to mothers who reported a fever, suggesting that it is fever that contributes to the excess risk rather than illnesses associated with it. However, fever may also serve as a marker for more severe infections. © 2017 Wiley Periodicals, Inc.

Prenatal nitrate intake from drinking water and selected birth defects in offspring of participants in the national birth defects prevention study.

PubMed

Brender, Jean D; Weyer, Peter J; Romitti, Paul A; Mohanty, Binayak P; Shinde, Mayura U; Vuong, Ann M; Sharkey, Joseph R; Dwivedi, Dipankar; Horel, Scott A; Kantamneni, Jiji; Huber, John C; Zheng, Qi; Werler, Martha M; Kelley, Katherine E; Griesenbeck, John S; Zhan, F Benjamin; Langlois, Peter H; Suarez, Lucina; Canfield, Mark A

2013-09-01

Previous studies of prenatal exposure to drinking-water nitrate and birth defects in offspring have not accounted for water consumption patterns or potential interaction with nitrosatable drugs. We examined the relation between prenatal exposure to drinking-water nitrate and selected birth defects, accounting for maternal water consumption patterns and nitrosatable drug exposure. With data from the National Birth Defects Prevention Study, we linked addresses of 3,300 case mothers and 1,121 control mothers from the Iowa and Texas sites to public water supplies and respective nitrate measurements. We assigned nitrate levels for bottled water from collection of representative samples and standard laboratory testing. Daily nitrate consumption was estimated from self-reported water consumption at home and work. With the lowest tertile of nitrate intake around conception as the referent group, mothers of babies with spina bifida were 2.0 times more likely (95% CI: 1.3, 3.2) to ingest ≥ 5 mg nitrate daily from drinking water (vs. < 0.91 mg) than control mothers. During 1 month preconception through the first trimester, mothers of limb deficiency, cleft palate, and cleft lip cases were, respectively, 1.8 (95% CI: 1.1, 3.1), 1.9 (95% CI: 1.2, 3.1), and 1.8 (95% CI: 1.1, 3.1) times more likely than control mothers to ingest ≥ 5.42 mg of nitrate daily (vs. < 1.0 mg). Higher water nitrate intake did not increase associations between prenatal nitrosatable drug use and birth defects. Higher water nitrate intake was associated with several birth defects in offspring, but did not strengthen associations between nitrosatable drugs and birth defects.

Association between antibiotic use among pregnant women with urinary tract infections in the first trimester and birth defects, National Birth Defects Prevention Study 1997 to 2011.

PubMed

Ailes, Elizabeth C; Gilboa, Suzanne M; Gill, Simerpal K; Broussard, Cheryl S; Crider, Krista S; Berry, Robert J; Carter, Tonia C; Hobbs, Charlotte A; Interrante, Julia D; Reefhuis, Jennita

2016-11-01

Previous studies noted associations between birth defects and some antibiotics (e.g., nitrofurantoin, sulfonamides) but not others (e.g., penicillins). It is unclear if previous findings were due to antibiotic use, infections, or chance. To control for potential confounding by indication, we examined associations between antibiotic use and birth defects, among women reporting urinary tract infections (UTIs). The National Birth Defects Prevention Study is a multi-site, population-based case-control study. Case infants/fetuses have any of over 30 major birth defects and controls are live-born infants without major birth defects. We analyzed pregnancies from 1997 to 2011 to estimate the association between maternally reported periconceptional (month before conception through the third month of pregnancy) use of nitrofurantoin, trimethoprim-sulfamethoxazole, or cephalosporins and specific birth defects, among women with periconceptional UTIs. Women with periconceptional UTIs who reported penicillin use served as the comparator. Periconceptional UTIs were reported by 7.8% (2029/26,068) of case and 6.7% (686/10,198) of control mothers. Most (68.2% of case, 66.6% of control mothers) also reported antibiotic use. Among 608 case and 231 control mothers reporting at least one periconceptional UTI and certain antibiotic use, compared with penicillin, nitrofurantoin use was associated with oral clefts in the offspring (adjusted odds ratio, 1.97 [95% confidence interval, 1.10-3.53]), trimethoprim-sulfamethoxazole use with esophageal atresia (5.31 [1.39-20.24]) and diaphragmatic hernia (5.09 [1.20-21.69]), and cephalosporin use with anorectal atresia/stenosis (5.01 [1.34-18.76]). Periconceptional exposure to some antibiotics might increase the risk for certain birth defects. However, because individual birth defects are rare, absolute risks should drive treatment decisions.Birth Defects Research (Part A) 106:940-949, 2016.© 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals

Seasonality in birth defects, agricultural production and urban location.

PubMed

McKinnish, Terra; Rees, Daniel I; Langlois, Peter H

2014-12-01

This paper tests whether the strength of the "spring spike" in birth defects is related to agricultural production and urban location using Texas Birth Defects Registry data for the period 1996-2007. We find evidence of a spike in birth defects among children conceived in the spring and summer, but it is more pronounced in urban non-agricultural counties than in other types of counties. Furthermore, the spike lasts longer in urban non-agricultural counties as compared to other types of counties. Copyright © 2014 Elsevier B.V. All rights reserved.

Etiology and clinical presentation of birth defects: population based study

PubMed Central

Carey, John C; Byrne, Janice L B; Krikov, Sergey; Botto, Lorenzo D

2017-01-01

Objective To assess causation and clinical presentation of major birth defects. Design Population based case cohort. Setting Cases of birth defects in children born 2005-09 to resident women, ascertained through Utah’s population based surveillance system. All records underwent clinical re-review. Participants 5504 cases among 270 878 births (prevalence 2.03%), excluding mild isolated conditions (such as muscular ventricular septal defects, distal hypospadias). Main outcome measures The primary outcomes were the proportion of birth defects with a known etiology (chromosomal, genetic, human teratogen, twinning) or unknown etiology, by morphology (isolated, multiple, minors only), and by pathogenesis (sequence, developmental field defect, or known pattern of birth defects). Results Definite cause was assigned in 20.2% (n=1114) of cases: chromosomal or genetic conditions accounted for 94.4% (n=1052), teratogens for 4.1% (n=46, mostly poorly controlled pregestational diabetes), and twinning for 1.4% (n=16, conjoined or acardiac). The 79.8% (n=4390) remaining were classified as unknown etiology; of these 88.2% (n=3874) were isolated birth defects. Family history (similarly affected first degree relative) was documented in 4.8% (n=266). In this cohort, 92.1% (5067/5504) were live born infants (isolated and non-isolated birth defects): 75.3% (4147/5504) were classified as having an isolated birth defect (unknown or known etiology). Conclusions These findings underscore the gaps in our knowledge regarding the causes of birth defects. For the causes that are known, such as smoking or diabetes, assigning causation in individual cases remains challenging. Nevertheless, the ongoing impact of these exposures on fetal development highlights the urgency and benefits of population based preventive interventions. For the causes that are still unknown, better strategies are needed. These can include greater integration of the key elements of etiology, morphology, and

Risk of limb birth defects and mother's home proximity to cornfields.

PubMed

Ochoa-Acuña, Hugo; Carbajo, Cristina

2009-07-15

Although previous studies have linked proximity to crops and birth defects, they lacked individual-level exposure data and none was based on using planted area instead of linear proximity to crops as the exposure metric. We studied birth defects in relation to the area of corn or soybeans within 500 m of the mother's residence. We selected all singleton births from rural areas conceived during the 2000-2004 spring-summer months (n=48,216). We determined whether the area with corn or soybeans around the home was associated with birth defects using multiple unconditional logistic regression. We found that limb birth defects (ICD-9-CM 754.5, 755) increased in relation to cornfields (Adjusted OR=1.22; 95 % CI=1.01, 1.47 per additional 10 ha planted with corn within 500 m). None of the birth defect types studied was associated with soybeans. In the Midwest, a significant and expanding proportion of the population is now living in close proximity to cornfields. Our results suggest that additional studies should be conducted to identify which factor(s) associated with cornfields are behind the observed increase in limb birth defects.

EPIDEMIOLOGY STUDY OF BIRTH DEFECTS AND DISINFECTION BYPRODUCTS (DBPS)

EPA Science Inventory

Birth defects are the leading cause of infant mortality in the US, accounting for more than 20% of all infant deaths. In addition, birth defects are the fifth leading cause of years of potential life lost and contribute substantially to childhood morbidity and long-term disabilit...

Birth Defects Research and Tracking

MedlinePlus

... least one month before getting pregnant and during early pregnancy lowers the risk of having a baby with ... 2017) Key Findings: Use of Pain Medicine During Early Pregnancy May Be Related To Birth Defects A study ...

Insights from Parents about Caring for a Child with Birth Defects

PubMed Central

Lemacks, Jodi; Fowles, Kristin; Mateus, Amanda; Thomas, Kayte

2013-01-01

Birth defects affect 1 in 33 babies. Having a child with a birth defect impacts the whole family. Parents of children who have birth defects face unique challenges and desire to make life better for their kids. They also want to help to prevent birth defects in the future. Some of the challenges parents face involve communication with healthcare professionals, quality of life issues, creating awareness and advocating for research and funding, finding resources and support, and helping teens transition to appropriate, specialized adult care. This paper addresses these issues and their sub-issues, provides examples, and makes suggestions for improvement and research. PMID:23965922

Maternal caffeine intake and risk of selected birth defects in the National Birth Defects Prevention Study.

PubMed

Browne, Marilyn L; Hoyt, Adrienne T; Feldkamp, Marcia L; Rasmussen, Sonja A; Marshall, Elizabeth G; Druschel, Charlotte M; Romitti, Paul A

2011-02-01

Caffeine intake is common during pregnancy, yet few epidemiologic studies have examined the association between maternal caffeine consumption and birth defects. Using data from the National Birth Defects Prevention Study (NBDPS), we examined the association between maternal caffeine consumption and anotia/microtia, esophageal atresia, small intestinal atresia, craniosynostosis, diaphragmatic hernia, omphalocele, and gastroschisis. The NBDPS is a multi-site population-based case-control study. The present analysis included 3,346 case infants and 6,642 control infants born from October 1997 through December 2005. Maternal telephone interview reports of demographic characteristics and conditions and exposures before and during pregnancy were collected. Odds ratios and 95% confidence intervals, adjusted for relevant covariates, were calculated to estimate the associations between maternal dietary caffeine intake (coffee, tea, soda, and chocolate) and maternal use of caffeine-containing medications and each defect. We observed small, statistically significant elevations in adjusted odds ratios ranging from 1.3 to 1.8 for total maternal dietary caffeine intake or specific types of caffeinated beverages and anotia/microtia, esophageal atresia, small intestinal atresia, and craniosynostosis; however, dose-response patterns were absent. Periconceptional use of caffeine-containing medications was infrequent and estimates were imprecise. We did not find convincing evidence of an association between maternal caffeine intake and the birth defects included in this study. The increasing popularity of caffeine-containing energy drinks and other caffeinated products may result in higher caffeine intake among women of childbearing age. Future studies should consider more detailed evaluation of such products. Copyright © 2010 Wiley-Liss, Inc.

Racial/ethnic variations in the prevalence of selected major birth defects, metropolitan Atlanta, 1994-2005.

PubMed

Kucik, James E; Alverson, Clinton J; Gilboa, Suzanne M; Correa, Adolfo

2012-01-01

Birth defects are the leading cause of infant mortality and are responsible for substantial child and adult morbidity. Documenting the variation in prevalence of birth defects among racial/ethnic subpopulations is critical for assessing possible variations in diagnosis, case ascertainment, or risk factors among such groups. We used data from the Metropolitan Atlanta Congenital Defects Program, a population-based birth defects registry with active case ascertainment. We estimated the racial/ethnic variation in prevalence of 46 selected major birth defects among live births, stillbirths, and pregnancy terminations at >20 weeks gestation among mothers residing in the five central counties of metropolitan Atlanta between 1994 and 2005, adjusting for infant sex, maternal age, gravidity, and socioeconomic status (SES). We also explored SES as a potential effect measure modifier. Compared with births to non-Hispanic white women, births to non-Hispanic black women had a significantly higher prevalence of five birth defects and a significantly lower prevalence of 10 birth defects, while births to Hispanic women had a significantly higher prevalence of four birth defects and a significantly lower prevalence of six birth defects. The racial/ethnic disparities in the prevalence of some defects varied by SES, but no clear pattern emerged. Racial/ethnic disparities were suggested in 57% of included birth defects. Disparities in the prevalence of birth defects may result from different underlying genetic susceptibilities; exposure to risk factors; or variability in case diagnosis, ascertainment, or reporting among the subpopulations examined. Policies that improve early diagnosis of birth defects could reduce associated morbidity and mortality.

Attaining human dignity for people with birth defects: a historical perspective.

PubMed

Christianson, Arnold L

2013-10-11

People with birth defects have been stigmatised, marginalised and discriminated against for millennia, diminishing their human dignity and abrogating their human rights. Beginning with the United Nations Universal Declaration of Human Rights, promulgated in 1947, the circumstances in which human dignity in healthcare for people with birth defects could be achieved arose, and this was accomplished over the next 65 years through the insight, hard work and dedication of a select group of people and organisations. In 2010 the World Health Organization prioritised services for the care and prevention of birth defects, particularly in middle- and low-income countries. Translating what has been achieved into human rights in healthcare for people with birth defects is the next objective. 

Maternal residential exposure to agricultural pesticides and birth defects in a 2003 to 2005 North Carolina birth cohort.

PubMed

Rappazzo, Kristen M; Warren, Joshua L; Meyer, Robert E; Herring, Amy H; Sanders, Alison P; Brownstein, Naomi C; Luben, Thomas J

2016-04-01

Birth defects are responsible for a large proportion of disability and infant mortality. Exposure to a variety of pesticides have been linked to increased risk of birth defects. We conducted a case-control study to estimate the associations between a residence-based metric of agricultural pesticide exposure and birth defects. We linked singleton live birth records for 2003 to 2005 from the North Carolina (NC) State Center for Health Statistics to data from the NC Birth Defects Monitoring Program. Included women had residence at delivery inside NC and infants with gestational ages from 20 to 44 weeks (n = 304,906). Pesticide exposure was assigned using a previously constructed metric, estimating total chemical exposure (pounds of active ingredient) based on crops within 500 meters of maternal residence, specific dates of pregnancy, and chemical application dates based on the planting/harvesting dates of each crop. Logistic regression was used to estimate odds ratios (ORs) and 95% confidence intervals for four categories of exposure (<10(th) , 10-50(th) , 50-90(th) , and >90(th) percentiles) compared with unexposed. Models were adjusted for maternal race, age at delivery, education, marital status, and smoking status. We observed elevated ORs for congenital heart defects and certain structural defects affecting the gastrointestinal, genitourinary and musculoskeletal systems (e.g., OR [95% confidence interval] [highest exposure vs. unexposed] for tracheal esophageal fistula/esophageal atresia = 1.98 [0.69, 5.66], and OR for atrial septal defects: 1.70 [1.34, 2.14]). Our results provide some evidence of associations between residential exposure to agricultural pesticides and several birth defects phenotypes. Birth Defects Research (Part A) 106:240-249, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Reconstruction of Facial Defect Using Deltopectoral Flap.

PubMed

Aldelaimi, Tahrir N; Khalil, Afrah A

2015-11-01

Reconstruction of the head and neck is a challenge for otolarygology surgeons, maxillofacial surgeons as well as plastic surgeons. Defects caused by the resection and/or trauma should be closed with flaps which match in color, texture and hair bearing characteristics with the face. Deltopectoral flap is a one such flap from chest and neck skin mainly used to cover the facial defects. This study report a patient presenting with tragic Road Traffic Accident (RTA) admitted to maxillofacial surgery department at Ramadi Teaching Hospital, Anbar province, Iraq. An incision, medially based, was done and deltopectoral fascio-cutaneous flap was used for surgical exposure and closure of defects after RTA. There was no major complication. Good aesthetic and functional results were achieved. Deltopectoral flap is an excellent alternative for the reconstruction of head and neck. Harvesting and application of the flap is rapid and safe. Only a single incision is sufficient for dissection and flap elevation.

Birth defects in Iraq and the plausibility of environmental exposure: A review

PubMed Central

2012-01-01

An increased prevalence of birth defects was allegedly reported in Iraq in the post 1991 Gulf War period, which was largely attributed to exposure to depleted uranium used in the war. This has encouraged further research on this particular topic. This paper reviews the published literature and provided evidence concerning birth defects in Iraq to elucidate possible environmental exposure. In addition to published research, this review used some direct observation of birth defects data from Al-Ramadi Maternity and Paediatric Hospital in Al-Anbar Governorate in Iraq from1st July 2000 through 30th June 2002. In addition to depleted uranium other war-related environmental factors have been studied and linked directly or indirectly with the increasing prevalence of birth defects. However, the reviewed studies and the available research evidence do not provide a clear increase in birth defects and a clear indication of a possible environmental exposure including depleted uranium although the country has been facing several environmental challenges since 1980. PMID:22839108

Associations between maternal periconceptional exposure to secondhand tobacco smoke and major birth defects.

PubMed

Hoyt, Adrienne T; Canfield, Mark A; Romitti, Paul A; Botto, Lorenzo D; Anderka, Marlene T; Krikov, Sergey V; Tarpey, Morgan K; Feldkamp, Marcia L

2016-11-01

While associations between secondhand smoke and a few birth defects (namely, oral clefts and neural tube defects) have been noted in the scientific literature, to our knowledge, there is no single or comprehensive source of population-based information on its associations with a range of birth defects among nonsmoking mothers. We utilized data from the National Birth Defects Prevention Study, a large population-based multisite case-control study, to examine associations between maternal reports of periconceptional exposure to secondhand smoke in the household or workplace/school and major birth defects. The multisite National Birth Defects Prevention Study is the largest case-control study of birth defects to date in the United States. We selected cases from birth defect groups having >100 total cases, as well as all nonmalformed controls (10,200), from delivery years 1997 through 2009; 44 birth defects were examined. After excluding cases and controls from multiple births and whose mothers reported active smoking or pregestational diabetes, we analyzed data on periconceptional secondhand smoke exposure-encompassing the period 1 month prior to conception through the first trimester. For the birth defect craniosynostosis, we additionally examined the effect of exposure in the second and third trimesters as well due to the potential sensitivity to teratogens for this defect throughout pregnancy. Covariates included in all final models of birth defects with ≥5 exposed mothers were study site, previous live births, time between estimated date of delivery and interview date, maternal age at estimated date of delivery, race/ethnicity, education, body mass index, nativity, household income divided by number of people supported by this income, periconceptional alcohol consumption, and folic acid supplementation. For each birth defect examined, we used logistic regression analyses to estimate both crude and adjusted odds ratios and 95% confidence intervals for both

Public Health Practice of Population-Based Birth Defects Surveillance Programs in the United States.

PubMed

Mai, Cara T; Kirby, Russell S; Correa, Adolfo; Rosenberg, Deborah; Petros, Michael; Fagen, Michael C

2016-01-01

Birth defects remain a leading cause of infant mortality in the United States and contribute substantially to health care costs and lifelong disabilities. State population-based surveillance systems have been established to monitor birth defects, yet no recent systematic examination of their efforts in the United States has been conducted. To understand the current population-based birth defects surveillance practices in the United States. The National Birth Defects Prevention Network conducted a survey of US population-based birth defects activities that included questions about operational status, case ascertainment methodology, program infrastructure, data collection and utilization, as well as priorities and challenges for surveillance programs. Birth defects contacts in the United States, including District of Columbia and Puerto Rico, received the survey via e-mail; follow-up reminders via e-mails and telephone were used to ensure a 100% response rate. Forty-three states perform population-based surveillance for birth defects, covering approximately 80% of the live births in the United States. Seventeen primarily use an active case-finding approach and 26 use a passive case-finding approach. These programs all monitor major structural malformations; however, passive case-finding programs more often monitor a broader list of conditions, including developmental conditions and newborn screening conditions. Active case-finding programs more often use clinical reviewers, cover broader pregnancy outcomes, and collect more extensive information, such as family history. More than half of the programs (24 of 43) reported an ability to conduct follow-up studies of children with birth defects. The breadth and depth of information collected at a population level by birth defects surveillance programs in the United States serve as an important data source to guide public health action. Collaborative efforts at the state and national levels can help harmonize data

[Association between illness and mental status in pregnant women and birth defects].

PubMed

Zhao, D D; Dai, Y X; Guo, L Q; Liu, R; Wang, H L; Mi, B B; Dang, S N; Yan, H

2017-11-10

Objective: To understand the prevalence of birth defects, related diseases and mental status of women during pregnancy in Shaanxi province and to analyse the major risk factors on birth defects and congenital heart disease. Possible association between maternal diseases or mental status and the risk of birth defects, was also explored. Methods: A cross-sectional design was used in this study and stratified multistage random sampling method was used. The whole survey was from Jury 2013 to November 2013. Logistic regression method was used to analyze the association between maternal diseases, mental status during pregnancy and birth defects. Results: The overall prevalence of birth defects was 195.04 per 10 000 in Shaanxi. Among the 29 121 mothers participating in this study, 51.1% developed illness and 6.8% "changed their mental status during pregnancy. After adjusting all the confounding factors, results showed that, histories of cold" , fever, and intrahepatic cholestasis were ( OR =1.33, 95 %CI : 1.10-1.61, OR =1.54, 95 %CI : 1.09-2.16, and OR =32.77, 95 %CI :4.08-263.04) respectively, during pregnancy that related to birth defects. Self-reported unstable mental status ( OR =1.60, 95 %CI : 1.19-2.15) and family friction ( OR =2.07, 95 %CI : 1.12-3.79) were both related to the birth rates. Histories of cold and fever ( OR =1.59, 95 %CI : 1.28-1.98; OR =1.43, 95 %CI : 1.48-4.00), during early pregnancy, unstable mental status during mid-pregnant period ( OR =1.52, 95 %CI : 1.05-2.19), unstable mental status during late-pregnant period ( OR =1.63, 95 %CI : 1.05-2.19) and family friction during late-pregnant period ( OR =2.89, 95 %CI : 1.16-7.20) were found to be related to birth defects. Compared with those without history of cold, those with the history of cold during first ( OR =1.24, 95 %CI : 1.02-1.52) and second stages ( OR =2.06, 95 %CI : 1.30-3.26) of pregnancy were more likely to bear fetus with birth defects. Compared with those without these histories

Early prenatal exposure to air pollution and its associations with birth defects in a state-wide birth cohort from North Carolina.

PubMed

Vinikoor-Imler, Lisa C; Davis, J Allen; Meyer, Robert E; Luben, Thomas J

2013-10-01

Few studies have examined the potential relationship between air pollution and birth defects. The objective of this study was to investigate whether maternal exposure to particulate matter (PM2.5 ) and ozone (O3 ) during pregnancy is associated with birth defects among women living throughout North Carolina. Information on maternal and infant characteristics was obtained from North Carolina birth certificates and health service data (2003-2005) and linked with information on birth defects from the North Carolina Birth Defects Monitoring Program. The 24-hr PM2.5 and O3 concentrations were estimated using a hierarchical Bayesian model of air pollution generated by combining modeled air pollution predictions from the U.S. Environmental Protection Agency's Community Multi-Scale Air Quality model with air monitor data from the Environmental Protection Agency's Air Quality System. Maternal residence was geocoded and assigned pollutant concentrations averaged over weeks 3 to 8 of gestation. Binomial regression was performed and adjusted for potential confounders. No association was observed between either PM2.5 or O3 concentrations and most birth defects. Positive effect estimates were observed between air pollution and microtia/anotia and lower limb deficiency defects, but the 95% confidence intervals were wide and included the null. Overall, this study suggested a possible relationship between air pollution concentration during early pregnancy and certain birth defects (e.g., microtia/anotia, lower limb deficiency defects), although this study did not have the power to detect such an association. The risk for most birth defects does not appear to be affected by ambient air pollution. Copyright © 2013 Wiley Periodicals, Inc.

Birth Defects among Infants Born to Women Who Received Anthrax Vaccine in Pregnancy

DTIC Science & Technology

2008-07-02

Department of Defense Birth Defects Registry: overview of a new surveillance system. Teratology 2001;64(suppl 1):S26–9. 22. National Birth Defects... Teratology 2002;66:326–30. 29. Ryan MAK, Gumbs GR, Conlin AMS, et al. Evaluation of preterm births and birth defects in liveborn infants of US military...fetal malformations. Teratology 2000;62:413–19. 39. Yitzhakie D, Torchinsky A, Savion S, et al. Maternal immu- nopotentiation affects the teratogenic

Maternal Residential Exposure to Agricultural Pesticides and Birth Defects in a 2003 to 2005 North Carolina Birth Cohort

EPA Science Inventory

Birth defects are responsible for a large proportion of disability and infant mortality. Exposure to a variety of pesticides have been linked to increased risk of birth defects. We conducted a case-control study to estimate the associations between a residence-based metric of agr...

Cleft extension and risks of other birth defects in children with isolated cleft palate.

PubMed

Chetpakdeechit, Woranuch; Mohlin, Bengt; Persson, Christina; Hagberg, Catharina

2010-03-01

To study the risks of having other birth defects in children born with an isolated cleft palate (iCP) when the length of the cleft was taken into account. The hypothesis was that a newborn with an extensive cleft lesion may have an increased risk of other birth defects compared to a child with a less extensive cleft of the palate. All Caucasian children with iCP born between 1975 and 2005 in the southwestern region of Sweden were included. Data were collected from standardized medical records and the length of the cleft was checked on the pre-surgical dental cast for each child. A total of 343 children were born with an iCP. The incidence was 0.64/1000 live births. Thirty-four percent of children with either a total or partial iCP had other birth defects. The risk was 1.7 times higher for a total compared to a partial iCP. The two most common birth defects were congenital heart disease and intellectual disability. Ear problems related to infections were registered in 43% of cases. Fifteen percent of the children had the Pierre Robin sequence, which was analyzed as a separate variable and not included as a birth defect. The length of the iCP was found to influence the risk of having another birth defect as the total palatal clefts were more often combined with other birth defects compared to partial clefts. Careful medical check-ups are important for newborns with iCP since they have increased risks of other birth defects.

Using bayesian models to assess the effects of under-reporting of cannabis use on the association with birth defects, national birth defects prevention study, 1997-2005.

PubMed

van Gelder, Marleen M H J; Donders, A Rogier T; Devine, Owen; Roeleveld, Nel; Reefhuis, Jennita

2014-09-01

Studies on associations between periconceptional cannabis exposure and birth defects have mainly relied on self-reported exposure. Therefore, the results may be biased due to under-reporting of the exposure. The aim of this study was to quantify the potential effects of this form of exposure misclassification. Using multivariable logistic regression, we re-analysed associations between periconceptional cannabis use and 20 specific birth defects using data from the National Birth Defects Prevention Study from 1997-2005 for 13 859 case infants and 6556 control infants. For seven birth defects, we implemented four Bayesian models based on various assumptions concerning the sensitivity of self-reported cannabis use to estimate odds ratios (ORs), adjusted for confounding and under-reporting of the exposure. We used information on sensitivity of self-reported cannabis use from the literature for prior assumptions. The results unadjusted for under-reporting of the exposure showed an association between cannabis use and anencephaly (posterior OR 1.9 [95% credible interval (CRI) 1.1, 3.2]) which persisted after adjustment for potential exposure misclassification. Initially, no statistically significant associations were observed between cannabis use and the other birth defect categories studied. Although adjustment for under-reporting did not notably change these effect estimates, cannabis use was associated with esophageal atresia (posterior OR 1.7 [95% CRI 1.0, 2.9]), diaphragmatic hernia (posterior OR 1.8 [95% CRI 1.1, 3.0]), and gastroschisis (posterior OR 1.7 [95% CRI 1.2, 2.3]) after correction for exposure misclassification. Under-reporting of the exposure may have obscured some cannabis-birth defect associations in previous studies. However, the resulting bias is likely to be limited. © 2014 John Wiley & Sons Ltd.

Using Bayesian Models to Assess the Effects of Under-reporting of Cannabis Use on the Association with Birth Defects, National Birth Defects Prevention Study, 1997–2005

PubMed Central

van Gelder, Marleen M. H. J.; Rogier, A.; Donders, T.; Devine, Owen; Roeleveld, Nel; Reefhuis, Jennita

2015-01-01

Background Studies on associations between periconceptional cannabis exposure and birth defects have mainly relied on self-reported exposure. Therefore, the results may be biased due to underreporting of the exposure. The aim of this study was to quantify the potential effects of this form of exposure misclassification. Methods Using multivariable logistic regression, we re-analyzed associations between periconceptional cannabis use and 20 specific birth defects using data from the National Birth Defects Prevention Study from 1997–2005 for 13 859 case infants and 6556 control infants. For seven birth defects, we implemented four Bayesian models based on various assumptions concerning the sensitivity of self-reported cannabis use to estimate odds ratios (ORs), adjusted for confounding and underreporting of the exposure. We used information on sensitivity of self-reported cannabis use from the literature for prior assumptions. Results The results unadjusted for underreporting of the exposure showed an association between cannabis use and anencephaly (posterior OR 1.9 [95% credible interval (CRI) 1.1, 3.2]) which persisted after adjustment for potential exposure misclassification. Initially, no statistically significant associations were observed between cannabis use and the other birth defect categories studied. Although adjustment for underreporting did not notably change these effect estimates, cannabis use was associated with esophageal atresia (posterior OR 1.7 [95% CRI 1.0, 2.9]), diaphragmatic hernia (posterior OR 1.8 [95% CRI 1.1, 3.0]) and gastroschisis (posterior OR 1.7 [95% CRI 1.2, 2.3]) after correction for exposure misclassification. Conclusions Underreporting of the exposure may have obscured some cannabis-birth defect associations in previous studies. However, the resulting bias is likely to be limited. PMID:25155701

Heterogeneous rates for birth defects in Latin America: hints on causality.

PubMed

Lopez-Camelo, J S; Orioli, I M

1996-01-01

The aim of this work was to disclose risk factors associated with birth defects which were heterogeneously distributed in the different geographic regions sampled by the Latin American Collaborative Study of Congenital Malformations (ECLAMC). The material included 2,159,065 hospital births, delivered in the 1967-1989 period in 24 geographic regions of Latin America. Birth defect types with 50 case-control pairs or more were analyzed. A risk factor was defined as that available variable with differential geographic rates, correlated with those of a given birth defect type. Identified factors were tested by case-control multivariate logistic regression to confirm their role in the occurrence of the defect. Altitude and maternal acute illness during first trimester of pregnancy, named influenza, were risk factors for microtia. Prenatal drug exposure, mainly sex hormones, were connected with the occurrence of hypospadias in low frequency areas, while Native ancestry was a "protective" factor in the same regions. Acute (influenza), and chronic (epilepsy and syphilis) maternal illness during first trimester of pregnancy and gravidity higher than four were risk factors for cleft lip. The independence of these variables from maternal age suggested that low maternal socioeconomic level could explain the high birth defect order and, perhaps, syphilis in mothers. Postaxial polydactyly was associated with parental consanguinity, as well as Afro-American ancestry, suggesting genetic heterogeneity.

The National Birth Defects Prevention Study: a review of the methods

PubMed Central

Reefhuis, Jennita; Gilboa, Suzanne M.; Anderka, Marlene; Browne, Marilyn L.; Feldkamp, Marcia L.; Hobbs, Charlotte A.; Jenkins, Mary M.; Langlois, Peter H.; Newsome, Kimberly B.; Olshan, Andrew F.; Romitti, Paul A.; Shapira, Stuart K.; Shaw, Gary M.; Tinker, Sarah C.; Honein, Margaret A.

2015-01-01

Background The National Birth Defects Prevention Study (NBDPS) is a large population-based multi-center case-control study of major birth defects in the United States. Methods Data collection took place from 1998 through 2013 on pregnancies ending between October 1997 and December 2011. Cases could be live born, stillborn or induced terminations, and were identified from birth defects surveillance programs in Arkansas, California, Georgia, Iowa, Massachusetts, New Jersey, New York, North Carolina, Texas and Utah. Controls were live born infants without major birth defects identified from the same geographical regions and time periods as cases via either vital records or birth hospitals. Computer-assisted telephone interviews were completed with women between 6 weeks and 24 months after the estimated date of delivery. After completion of interviews, families received buccal cell collection kits for the mother, father and infant (if living). Results There were 47,832 eligible cases and 18,272 eligible controls. Among these, 32,187 (67%) and 11,814 (65%) respectively, provided interview information about their pregnancies. Buccal cell collection kits with a cytobrush for at least one family member were returned by 19,065 case and 6,211 control families (65% and 59% of those who were sent a kit). More than 500 projects have been proposed by the collaborators and over 200 manuscripts published using data from the NBDPS through December 2014. Conclusion The NBDPS has made substantial contributions to the field of birth defects epidemiology through its rigorous design, including case classification, detailed questionnaire and specimen collection, large study population, and collaborative activities across Centers. PMID:26033852

The National Birth Defects Prevention Study: A review of the methods.

PubMed

Reefhuis, Jennita; Gilboa, Suzanne M; Anderka, Marlene; Browne, Marilyn L; Feldkamp, Marcia L; Hobbs, Charlotte A; Jenkins, Mary M; Langlois, Peter H; Newsome, Kimberly B; Olshan, Andrew F; Romitti, Paul A; Shapira, Stuart K; Shaw, Gary M; Tinker, Sarah C; Honein, Margaret A

2015-08-01

The National Birth Defects Prevention Study (NBDPS) is a large population-based multicenter case-control study of major birth defects in the United States. Data collection took place from 1998 through 2013 on pregnancies ending between October 1997 and December 2011. Cases could be live born, stillborn, or induced terminations, and were identified from birth defects surveillance programs in Arkansas, California, Georgia, Iowa, Massachusetts, New Jersey, New York, North Carolina, Texas, and Utah. Controls were live born infants without major birth defects identified from the same geographical regions and time periods as cases by means of either vital records or birth hospitals. Computer-assisted telephone interviews were completed with women between 6 weeks and 24 months after the estimated date of delivery. After completion of interviews, families received buccal cell collection kits for the mother, father, and infant (if living). There were 47,832 eligible cases and 18,272 eligible controls. Among these, 32,187 (67%) and 11,814 (65%), respectively, provided interview information about their pregnancies. Buccal cell collection kits with a cytobrush for at least one family member were returned by 19,065 case and 6,211 control families (65% and 59% of those who were sent a kit). More than 500 projects have been proposed by the collaborators and over 200 manuscripts published using data from the NBDPS through December 2014. The NBDPS has made substantial contributions to the field of birth defects epidemiology through its rigorous design, including case classification, detailed questionnaire and specimen collection, large study population, and collaborative activities across Centers. © 2015 Wiley Periodicals, Inc.

Acceptance of Disability by Teenagers with Oral-Facial Clefts

ERIC Educational Resources Information Center

Starr, Philip; Heiserman, Kitty

1977-01-01

This study ascertains whether the findings of Linkowski and Dunn (1974) were applicable to a sample of teenagers with oral-facial clefts. The following brief description of the nature of this birth defect and the treatment involved will help to explain why these patients are potential candidates for rehabilitation. (Author)

Antihistamines and birth defects: a systematic review of the literature.

PubMed

Gilboa, Suzanne M; Ailes, Elizabeth C; Rai, Ramona P; Anderson, Jaynia A; Honein, Margaret A

2014-12-01

Approximately 10 - 15% of women reportedly take an antihistamine during pregnancy for the relief of nausea and vomiting, allergy and asthma symptoms, or indigestion. Antihistamines include histamine H1-receptor and H2-receptor antagonists. This is a systematic evaluation of the peer-reviewed epidemiologic literature published through February 2014 on the association between prenatal exposure to antihistamines and birth defects. Papers addressing histamine H1- or H2-receptor antagonists are included. Papers addressing pyridoxine plus doxylamine (Bendectin in the United States, Debendox in the United Kingdom, Diclectin in Canada, Lenotan and Merbental in other countries) prior to the year 2001 were excluded post hoc because of several previously published meta-analyses and commentaries on this medication. The literature on the safety of antihistamine use during pregnancy with respect to birth defects is generally reassuring though the positive findings from a few large studies warrant corroboration in other populations. The findings in the literature are considered in light of three critical methodological issues: i) selection of appropriate study population; ii) ascertainment of antihistamine exposures; and iii) ascertainment of birth defect outcomes. Selected antihistamines have been very well studied (e.g., loratadine); others, especially H2-receptor antagonists, require additional study before an assessment of safety with respect to birth defect risk could be made.

Factors associated with birth defects in the region of Corpus Christi, Texas

EPA Science Inventory

In recent years, the Birth Defects Epidemiology & Surveillance Branch of the Texas Department of State Health Services (DSHS) has documented a high prevalence of certain birth defects in the Corpus Christi, TX region. We conducted a case-control study to evaluate associations...

First Trimester Influenza Vaccination and Risks for Major Structural Birth Defects in Offspring.

PubMed

Kharbanda, Elyse Olshen; Vazquez-Benitez, Gabriela; Romitti, Paul A; Naleway, Allison L; Cheetham, T Craig; Lipkind, Heather S; Klein, Nicola P; Lee, Grace; Jackson, Michael L; Hambidge, Simon J; McCarthy, Natalie; DeStefano, Frank; Nordin, James D

2017-08-01

To examine risks for major structural birth defects in infants after first trimester inactivated influenza vaccine (IIV) exposures. In this observational study, we used electronic health data from 7 Vaccine Safety Datalink sites to examine risks for selected major structural defects in infants after maternal IIV exposure. Vaccine exposures for women with continuous insurance enrollment through pregnancy who delivered singleton live births between 2004 and 2013 were identified from standardized files. Infants with continuous insurance enrollment were followed to 1 year of age. We excluded mother-infant pairs with other exposures that potentially increased their background risk for birth defects. Selected cardiac, orofacial or respiratory, neurologic, ophthalmologic or otologic, gastrointestinal, genitourinary and muscular or limb defects were identified from diagnostic codes in infant medical records using validated algorithms. Propensity score adjusted generalized estimating equations were used to estimate prevalence ratios (PRs). We identified 52 856 infants with maternal first trimester IIV exposure and 373 088 infants whose mothers were unexposed to IIV during first trimester. Prevalence (per 100 live births) for selected major structural birth defects was 1.6 among first trimester IIV exposed versus 1.5 among unexposed mothers. The adjusted PR was 1.02 (95% CI 0.94-1.10). Organ system-specific PRs were similar to the overall PR. First trimester maternal IIV exposure was not associated with an increased risk for selected major structural birth defects in this large cohort of singleton live births. Copyright © 2017 Elsevier Inc. All rights reserved.

Assisted Reproductive Technology and Birth Defects Among Liveborn Infants in Florida, Massachusetts, and Michigan, 2000-2010.

PubMed

Boulet, Sheree L; Kirby, Russell S; Reefhuis, Jennita; Zhang, Yujia; Sunderam, Saswati; Cohen, Bruce; Bernson, Dana; Copeland, Glenn; Bailey, Marie A; Jamieson, Denise J; Kissin, Dmitry M

2016-06-06

Use of assisted reproductive technology (ART) has been associated with increased risks for birth defects. Variations in birth defect risks according to type of ART procedure have been noted, but findings are inconsistent. To examine the prevalence of birth defects among liveborn infants conceived with and without ART and to evaluate risks associated with certain ART procedures among ART-conceived infants. Used linked ART surveillance, birth certificates, and birth defects registry data for 3 states (Florida, Massachusetts, and Michigan). Methods for ascertaining birth defect cases varied by state. Resident live births during 2000 to 2010 were included, and the analysis was conducted between Feburary 2015 and August 2015. Use of ART among all live births and use of certain ART procedures among ART births. Prevalence of selected chromosomal and nonchromosomal birth defects that are usually diagnosed at or immediately after birth. Of the 4 618 076 liveborn infants between 2000 and 2010, 64 861 (1.4%) were conceived using ART. Overall, the prevalence of 1 or more of the selected nonchromosomal defects was 58.59 per 10 000 for ART infants (n = 389) vs 47.50 per 10 000 for non-ART infants (n = 22 036). The association remained significant after adjusting for maternal characteristics and year of birth (adjusted risk ratio [aRR], 1.28; 95% CI, 1.15-1.42). Similar differences were observed for singleton ART births vs their non-ART counterparts (63.69 per 10 000 [n = 218] vs 47.17 per 10 000 [n = 21 251]; aRR, 1.38; 95% CI, 1.21-1.59). Among multiple births, the prevalence of rectal and large intestinal atresia/stenosis was higher for ART births compared with non-ART births (aRR, 2.39; 95% CI, 1.38-4.12). Among ART births conceived after fresh embryo transfer, infants born to mothers with ovulation disorders had a higher prevalence of nonchromosomal birth defects (aRR, 1.53; 95% CI, 1.13-2.06) than those born to mothers without the diagnosis

Maternal occupation and the risk of major birth defects: A follow-up analysis from the National Birth Defects Prevention Study

PubMed Central

Lin, Shao; Herdt-Losavio, Michele L.; Chapman, Bonnie R.; Munsie, Jean-Pierre; Olshan, Andrew F.; Druschel, Charlotte M.

2013-01-01

This study further examined the association between selected maternal occupations and a variety of birth defects identified from prior analysis and explored the effect of work hours and number of jobs held and potential interaction between folic acid and occupation. Data from a population-based, multi-center case-control study was used. Analyses included 45 major defects and specific sub-occupations under five occupational groups: healthcare workers, cleaners, scientists, teachers and personal service workers. Both logistic regression and Bayesian models (to minimize type-1 errors) were used, adjusted for potential confounders. Effect modification by folic acid was also assessed. More than any other occupation, nine different defects were positively associated with maids or janitors [odds ratio (OR) range: 1.72-3.99]. Positive associations were also seen between the following maternal occupations and defects in their children (OR range: 1.35-3.48): chemists/conotruncal heart and neural tube defects (NTDs), engineers/conotruncal defects, preschool teachers/cataracts and cleft lip with/without cleft palate (CL/P), entertainers/athletes/gastroschisis, and nurses/hydrocephalus and left ventricular outflow tract heart defects. Non-preschool teachers had significantly lower odds of oral clefts and gastroschisis in their offspring (OR range: 0.53-0.76). There was a suggestion that maternal folic acid use modified the effects with occupations including lowering the risk of NTDs and CL/P. No consistent patterns were found between maternal work hours or multiple jobs by occupation and the risk of birth defects. Overall, mothers working as maids, janitors, biologists, chemists, engineers, nurses, entertainers, child care workers and preschool teachers had increased risks of several malformations and non-preschool teachers had a lower risk of some defects. Maternal folic acid use reduced the odds of NTDs and CL/P among those with certain occupations. This hypothesis

Surgical reconstruction of post-tumoral facial defects.

PubMed

Tamaş, Camelia; Pintilie, Cătălina Teodora; Atănăsoae, Ionuţ Vivi; Corduneanu, Andreea Mioara; Dabija, Iulia; Olaru, Florin Ştefan; Hreniuc, Irina Mihaela; Tecuceanu, Angela; Munteanu, Ioana; Dobre, Costel; Moraru, Dan Cristian; Ianole, Victor; Tamaş, Ioana; Costan, Victor Vlad

2018-01-01

The face is an unfortunate location for any type of tumor - malignant or not - with significant esthetic and functional outcomes. To reconstruct a facial defect may seem simple, but can be rather complicated. The aim of this study is to analyze and discuss our results in order to conclude with specific surgical strategies correlated with the morphopathological results. The most important objective for us is to offer the highest level of expertise to our patients and to prove that the symbiosis between the surgical treatment and the work of the Department of Morphopathology is essential in order to maximize the quality of medical care provided for our patients. A retrospective study was conducted on 116 patients diagnosed with facial malignant tumors, 70 of which were confirmed as basal cell carcinomas (BCCs), 35 confirmed as squamous cell carcinomas (SCCs) and 11 malignant melanomas (MMs). Most BCC cases (57) showed ulceration, with a long clinical evolution (more than 10 years) in 48 cases. Only in 12 SCC cases, patients showed inflammation and ulceration, with a shorter evolution period (2-5 years). For complete microscopic diagnosis, immunohistochemical (IHC) examination was necessary in 46 cases. The BCC "deceiving" clinical behavior and the generally aggressive character of the MM were found in our patients as well. The most frequent sites were the orbital region (27 cases) and the nasolabial sulcus (26 cases). In order to reconstruct the postexcisional defects, we had to perform local flaps in 62 cases (14 frontal flaps for orbital defects, 32 glabellar flaps for medial epicanthus, lower lid and nasal region, 15 nasolabial flaps for lower lid or nasal alae and one "Z"-plasty for the submental region). Oncological follow-up was performed in all patients and in 15 cases re-excision was necessary (11 BCCs, two SCCs and two MMs). Cervical lymph node metastasis occurred in six cases (three BCCs, one SCC and two MMs). The cooperation between surgeons and

Repair of a facial defect with an interpolation skin flap in a cat.

PubMed

Allen, S W; Miller, M A; Haas, K M

1997-05-01

A 9-year-old domestic shorthair cat was referred for removal of a rostrally located fibrosarcoma on the face, which had previously recurred twice following excision. A wide excision was performed, using a neodymium:yttrium-aluminumgarnet (Nd:YAG) laser, resulting in a facial defect that could not be closed by primary suture. An interpolation skin flap was elevated, using skin from the side of the cat's face, and sutured in place over the defect. Recurrence of the tumor at the medial canthus of the left eye, which was observed 4 months after surgery, was treated by laser excision and cryotherapy. Other recurrences of the fibrosarcoma were not noticed for 2.5 years after referral, at which time the cat was euthanatized for other reasons. Necropsy revealed that the fibrosarcoma had not recurred. In this cat, an interpolation skin flap was useful in repairing a large rostral facial defect. Care should be taken when elevating this flap to preserve the palpebral nerve.

Antihistamines and Birth Defects: A Systematic Review of the Literature

PubMed Central

Gilboa, Suzanne M.; Ailes, Elizabeth C.; Rai, Ramona P.; Anderson, Jaynia A.; Honein, Margaret A.

2015-01-01

Introduction Approximately 10-15% of women reportedly take an antihistamine during pregnancy for the relief of nausea and vomiting, allergy and asthma symptoms, or indigestion. Antihistamines include histamine H1-receptor and H2-receptor antagonists. Areas covered This is a systematic evaluation of the peer-reviewed epidemiologic literature published through February 2014 on the association between prenatal exposure to antihistamines and birth defects. Papers addressing histamine H1- or H2-receptor antagonists are included. Papers addressing pyridoxine plus doxylamine (Bendectin in the United States, Debendox in the United Kingdom, Diclectin in Canada, Lenotan and Merbental in other countries) prior to the year 2001 were excluded post-hoc because of several previously published meta-analyses and commentaries on this medication. Expert opinion The literature on the safety of antihistamine use during pregnancy with respect to birth defects is generally reassuring though the positive findings from a few large studies warrant corroboration in other populations. The findings in the literature are considered in light of three critical methodological issues: (1) selection of appropriate study population; (2) ascertainment of antihistamine exposures; and (3) ascertainment of birth defects outcomes. Selected antihistamines have been very well-studied (e.g. loratadine); others, especially H2- receptor antagonists, require additional study before an assessment of safety with respect to birth defects risk could be made. PMID:25307228

Analytic Methods for Evaluating Patterns of Multiple Congenital Anomalies in Birth Defect Registries.

PubMed

Agopian, A J; Evans, Jane A; Lupo, Philip J

2018-01-15

It is estimated that 20 to 30% of infants with birth defects have two or more birth defects. Among these infants with multiple congenital anomalies (MCA), co-occurring anomalies may represent either chance (i.e., unrelated etiologies) or pathogenically associated patterns of anomalies. While some MCA patterns have been recognized and described (e.g., known syndromes), others have not been identified or characterized. Elucidating these patterns may result in a better understanding of the etiologies of these MCAs. This article reviews the literature with regard to analytic methods that have been used to evaluate patterns of MCAs, in particular those using birth defect registry data. A popular method for MCA assessment involves a comparison of the observed to expected ratio for a given combination of MCAs, or one of several modified versions of this comparison. Other methods include use of numerical taxonomy or other clustering techniques, multiple regression analysis, and log-linear analysis. Advantages and disadvantages of these approaches, as well as specific applications, were outlined. Despite the availability of multiple analytic approaches, relatively few MCA combinations have been assessed. The availability of large birth defects registries and computing resources that allow for automated, big data strategies for prioritizing MCA patterns may provide for new avenues for better understanding co-occurrence of birth defects. Thus, the selection of an analytic approach may depend on several considerations. Birth Defects Research 110:5-11, 2018. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Neural tube defects in Costa Rica, 1987-2012: origins and development of birth defect surveillance and folic acid fortification.

PubMed

Barboza-Argüello, María de la Paz; Umaña-Solís, Lila M; Azofeifa, Alejandro; Valencia, Diana; Flores, Alina L; Rodríguez-Aguilar, Sara; Alfaro-Calvo, Thelma; Mulinare, Joseph

2015-03-01

Our aim was to provide a descriptive overview of how the birth defects surveillance and folic acid fortification programs were implemented in Costa Rica-through the establishment of the Registry Center for Congenital Anomalies (Centro de Registro de Enfermedades Congénitas-CREC), and fortification legislation mandates. We estimated the overall prevalence of neural tube defects (i.e., spina bifida, anencephaly and encephalocele) before and after fortification captured by CREC. Prevalence was calculated by dividing the total number of infants born with neural tube defects by the total number of live births in the country (1987-2012).A total of 1,170 newborns with neural tube defects were identified from 1987 to 2012 (1992-1995 data excluded); 628 were identified during the baseline pre-fortification period (1987-1991; 1996-1998); 191 during the fortification period (1999-2002); and 351 during the post-fortification time period (2003-2012). The overall prevalence of neural tube defects decreased from 9.8 per 10,000 live-births (95 % CI 9.1-10.5) for the pre-fortification period to 4.8 per 10,000 live births (95 % CI 4.3-5.3) for the post-fortification period. Results indicate a statistically significant (P < 0.05) decrease of 51 % in the prevalence of neural tube defects from the pre-fortification period to the post-fortification period. Folic acid fortification via several basic food sources has shown to be a successful public health intervention for Costa Rica. Costa Rica's experience can serve as an example for other countries seeking to develop and strengthen both their birth defects surveillance and fortification programs.

International adoption of children with birth defects: current knowledge and areas for further research.

PubMed

Cochran, Meagan E; Nelson, Katherine R; Robin, Nathaniel H

2014-12-01

To summarize the existing literature on the international adoption of children with birth defects and identify areas for further research. International adoption brings thousands of children to the United States each year, and children with birth defects are overrepresented in this population. Studies have demonstrated disparities in the health of children adopted from different countries as well as the complexity of medical care needed after adoption. Although the health of children involved in international adoption has been well studied, there is a lack of information about the experiences of the adoptive parents of children with birth defects. We discuss a pilot study conducted on adoptive parents of children with a specific birth defect, orofacial clefting, and discuss areas for future research.

Assisted Reproductive Technology and Birth Defects Among Liveborn Infants in Florida, Massachusetts, and Michigan, 2000–2010

PubMed Central

Boulet, Sheree L.; Kirby, Russell S.; Reefhuis, Jennita; Zhang, Yujia; Sunderam, Saswati; Cohen, Bruce; Bernson, Dana; Copeland, Glenn; Bailey, Marie A.; Jamieson, Denise J.; Kissin, Dmitry M.

2016-01-01

IMPORTANCE Use of assisted reproductive technology (ART) has been associated with increased risks for birth defects. Variations in birth defect risks according to type of ART procedure have been noted, but findings are inconsistent. OBJECTIVES To examine the prevalence of birth defects among liveborn infants conceived with and without ART and to evaluate risks associated with certain ART procedures among ART-conceived infants. DESIGN, SETTING, AND PARTICIPANTS Used linked ART surveillance, birth certificates, and birth defects registry data for 3 states (Florida, Massachusetts, and Michigan). Methods for ascertaining birth defect cases varied by state. Resident live births during 2000 to 2010 were included, and the analysis was conducted between Feburary 2015 and August 2015. EXPOSURES Use of ART among all live births and use of certain ART procedures among ART births. MAIN OUTCOME AND MEASURES Prevalence of selected chromosomal and nonchromosomal birth defects that are usually diagnosed at or immediately after birth. RESULTS Of the 4 618 076 liveborn infants between 2000 and 2010, 64 861 (1.4%) were conceived using ART. Overall, the prevalence of 1 or more of the selected nonchromosomal defects was 58.59 per 10 000 for ART infants (n = 389) vs 47.50 per 10 000 for non-ART infants (n = 22 036). The association remained significant after adjusting for maternal characteristics and year of birth (adjusted risk ratio [aRR], 1.28; 95%CI, 1.15–1.42). Similar differences were observed for singleton ART births vs their non-ART counterparts (63.69 per 10 000 [n = 218] vs 47.17 per 10 000 [n = 21 251]; aRR, 1.38; 95%CI, 1.21–1.59). Among multiple births, the prevalence of rectal and large intestinal atresia/stenosis was higher for ART births compared with non-ART births (aRR, 2.39; 95%CI, 1.38–4.12). Among ART births conceived after fresh embryo transfer, infants born to mothers with ovulation disorders had a higher prevalence of nonchromosomal birth defects (aRR, 1

A case–control study of maternal bathing habits and risk for birth defects in offspring

PubMed Central

2013-01-01

Background Nearly all women shower or take baths during early pregnancy; however, bathing habits (i.e., shower and bath length and frequency) may be related to the risk of maternal hyperthermia and exposure to water disinfection byproducts, both of which are suspected to increase risk for multiple types of birth defects. Thus, we assessed the relationships between bathing habits during pregnancy and the risk for several nonsyndromic birth defects in offspring. Methods Data for cases with one of 13 types of birth defects and controls from the National Birth Defects Prevention Study delivered during 2000–2007 were evaluated. Logistic regression analyses were conducted separately for each type of birth defect. Results There were few associations between shower frequency or bath frequency or length and risk for birth defects in offspring. The risk for gastroschisis in offspring was increased among women who reported showers lasting ≥15 compared to <15 minutes (adjusted odds ratio: 1.43, 95% confidence interval: 1.18-1.72). In addition, we observed modest increases in the risk for spina bifida, cleft lip with or without cleft palate, and limb reduction defects in offspring of women who showered ≥15 compared to <15 minutes. The results of comparisons among more specific categories of shower length (i.e., <15 minutes versus 15–19, 20–29, and ≥ 30 minutes) were similar. Conclusions Our findings suggest that shower length may be associated with gastroschisis, but the modest associations with other birth defects were not supported by analyses of bath length or bath or shower frequency. Given that showering for ≥15 minutes during pregnancy is very common, further evaluation of the relationship between maternal showering habits and birth defects in offspring is worthwhile. PMID:24131571

Birth defects after use of antithyroid drugs in early pregnancy: a Swedish nationwide study.

PubMed

Andersen, Stine Linding; Lönn, Stefan; Vestergaard, Peter; Törring, Ove

2017-10-01

Antithyroid drugs (ATDs) may have teratogenic effects, but more evidence is needed on the risk and types of birth defects after the use of methimazole (MMI) and propylthiouracil (PTU). This study aimed to evaluate the association between the use of ATDs in early pregnancy and birth defects. Swedish nationwide register-based cohort study. The study included 684 340 children live-born in Sweden from 2006 to 2012. Exposure groups defined by maternal ATD use in early pregnancy were MMI ( n  = 162); PTU ( n  = 218); MMI and PTU ( n  = 66); ATD before or after, but not in pregnancy ( n  = 1551) and non-exposed (never ATD ( n  = 682 343)). Outcome was cumulative incidence of birth defects diagnosed before two years of age. The cumulative incidence of birth defects was not significantly different in children exposed to MMI (6.8%, P  = 0.6) or PTU (6.4%, P  = 0.4) vs non-exposed (8.0%). For subtypes of birth defects, MMI was associated with an increased incidence of septal heart defects ( P  = 0.02). PTU was associated with ear ( P  = 0.005) and obstructive urinary system malformations ( P  = 0.006). A case of choanal atresia was observed after exposure to both MMI and PTU. The incidence of birth defects in children born to mothers who received ATD before or after, but not in pregnancy, was 8.8% and not significantly different from non-exposed ( P  = 0.3), MMI exposed ( P  = 0.4) or PTU exposed ( P  = 0.2). MMI and PTU were associated with subtypes of birth defects previously reported, but the frequency of ATD exposure in early pregnancy was low and severe malformations described in the MMI embryopathy were rarely observed. © 2017 European Society of Endocrinology.

Antihistamine Use in Early Pregnancy and Risk of Birth Defects

PubMed Central

Li, Qian; Mitchell, Allen A.; Werler, Martha M.; Yau, Wai-Ping; Hernández-Díaz, Sonia

2014-01-01

Background Several studies have reported an association between use of specific antihistamines in early pregnancy and certain specific birth defects. Objective To test 16 previously-hypothesized associations between specific antihistamines and specific birth defects, and identify possible new associations. Methods We used 1998-2010 data from the Slone Epidemiology Center Birth Defects Study, a multicenter case-control surveillance program of birth defects in North America. Mothers were interviewed within six months of delivery about demographic, reproductive, medical, and behavioral factors, and details on use of prescription and non-prescription medications. We compared 1st trimester exposure to specific antihistamines between 13,213 infants with specific malformations and 6,982 non-malformed controls, using conditional logistic regression to estimate odds ratios (ORs) and 95% confidence intervals (CIs), with adjustment for potential confounders, including indication for use. Results Overall, 13.7% of controls were exposed to antihistamines during the 1st trimester. The most commonly-used medications were diphenhydramine (4.2%), loratadine (3.1%), doxylamine (1.9%), and chlorpheniramine (1.7%). Where estimates were stable, none supported the previously-hypothesized associations. Among over 100 exploratory comparisons of other specific antihistamine/defect pairs, 14 had ORs ≥1.5 of which 6 had 95% CI bounds excluding 1.0 before but not after adjustment for multiple comparisons. Conclusion Our findings do not provide meaningful support for previously-posited associations between antihistamines and major congenital anomalies; at the same time, we identified associations that had not been previously suggested. We suspect that previous associations may be chance findings in the context of multiple comparisons, a situation which may also apply to our new findings. PMID:24565715

Lack of periconceptional vitamins or supplements that contain folic acid and diabetes mellitus-associated birth defects.

PubMed

Correa, Adolfo; Gilboa, Suzanne M; Botto, Lorenzo D; Moore, Cynthia A; Hobbs, Charlotte A; Cleves, Mario A; Riehle-Colarusso, Tiffany J; Waller, D Kim; Reece, E Albert

2012-03-01

The purpose of this study was to examine the risk of birth defects in relation to diabetes mellitus and the lack of use of periconceptional vitamins or supplements that contain folic acid. The National Birth Defects Prevention Study (1997-2004) is a multicenter, population-based case-control study of birth defects (14,721 cases and 5437 control infants). Cases were categorized into 18 types of heart defects and 26 noncardiac birth defects. We estimated odds ratios for independent and joint effects of preexisting diabetes mellitus and a lack of periconceptional use of vitamins or supplements that contain folic acid. The pattern of odds ratios suggested an increased risk of defects that are associated with diabetes mellitus in the absence vs the presence of the periconceptional use of vitamins or supplements that contain folic acid. The lack of periconceptional use of vitamins or supplements that contain folic acid may be associated with an excess risk for birth defects due to diabetes mellitus. Published by Mosby, Inc.

Application of the automated spatial surveillance program to birth defects surveillance data.

PubMed

Gardner, Bennett R; Strickland, Matthew J; Correa, Adolfo

2007-07-01

Although many birth defects surveillance programs incorporate georeferenced records into their databases, practical methods for routine spatial surveillance are lacking. We present a macroprogram written for the software package R designed for routine exploratory spatial analysis of birth defects data, the Automated Spatial Surveillance Program (ASSP), and present an application of this program using spina bifida prevalence data for metropolitan Atlanta. Birth defects surveillance data were collected by the Metropolitan Atlanta Congenital Defects Program. We generated ASSP maps for two groups of years that correspond roughly to the periods before (1994-1998) and after (1999-2002) folic acid fortification of flour. ASSP maps display census tract-specific spina bifida prevalence, smoothed prevalence contours, and locations of statistically elevated prevalence. We used these maps to identify areas of elevated prevalence for spina bifida. We identified a large area of potential concern in the years following fortification of grains and cereals with folic acid. This area overlapped census tracts containing large numbers of Hispanic residents. The potential utility of ASSP for spatial disease monitoring was demonstrated by the identification of areas of high prevalence of spina bifida and may warrant further study and monitoring. We intend to further develop ASSP so that it becomes practical for routine spatial monitoring of birth defects. (c) 2007 Wiley-Liss, Inc.

Maternal Exposure to Traffic-Related Air Pollution and Birth Defects in Massachusetts

PubMed Central

Girguis, Mariam S.; Strickland, Matthew J.; Hu, Xuefei; Liu, Yang; Bartell, Scott M.; Vieira, Verónica M.

2015-01-01

Exposures to particulate matter with diameter of 2.5 µm or less (PM2.5) may influence risk of birth defects. We estimated associations between maternal exposure to prenatal traffic-related air pollution and risk of cardiac, orofacial, and neural tube defects among Massachusetts births conceived 2001 through 2008. Our analyses included 2,729 cardiac, 255 neural tube, and 729 orofacial defects. We used satellite remote sensing, meteorological and land use data to assess PM2.5 and traffic-related exposures (distance to roads and traffic density) at geocoded birth addresses. We calculated adjusted odds ratios (OR) and confidence intervals (CI) using logistic regression models. Generalized additive models were used to assess spatial patterns of birth defect risk. There were positive but non-significant associations for a 10µg/m3 increase in PM2.5 and perimembranous ventricular septal defects (OR = 1.34, 95% CI: 0.98, 1.83), patent foramen ovale (OR = 1.19, 95% CI: 0.92, 1.54) and patent ductus arteriosus (OR = 1.20, 95% CI: 0.95, 1.62). There was a non-significant inverse association between PM2.5 and cleft lip with or without palate (OR = 0.76, 95% CI: 0.50, 1.10), cleft palate only (OR= 0.89, 95% CI: 0.54, 1.46) and neural tube defects (OR= 0.77, 95% CI: 0.46, 1.05). Results for traffic related exposure were similar. Only ostium secundum atrial septal defects displayed significant spatial variation after accounting for known risk factors. PMID:26705853

Integration of DNA sample collection into a multi-site birth defects case-control study.

PubMed

Rasmussen, Sonja A; Lammer, Edward J; Shaw, Gary M; Finnell, Richard H; McGehee, Robert E; Gallagher, Margaret; Romitti, Paul A; Murray, Jeffrey C

2002-10-01

Advances in quantitative analysis and molecular genotyping have provided unprecedented opportunities to add biological sampling and genetic information to epidemiologic studies. The purpose of this article is to describe the incorporation of DNA sample collection into the National Birth Defects Prevention Study (NBDPS), an ongoing case-control study in an eight-state consortium with a primary goal to identify risk factors for birth defects. Babies with birth defects are identified through birth defects surveillance systems in the eight participating centers. Cases are infants with one or more of over 30 major birth defects. Controls are infants without defects from the same geographic area. Epidemiologic information is collected through an hour-long interview with mothers of both cases and controls. We added the collection of buccal cytobrush DNA samples for case-infants, control-infants, and their parents to this study. We describe here the methods by which the samples have been collected and processed, establishment of a centralized resource for DNA banking, and quality control, database management, access, informed consent, and confidentiality issues. Biological sampling and genetic analyses are important components to epidemiologic studies of birth defects aimed at identifying risk factors. The DNA specimens collected in this study can be used for detection of mutations, study of polymorphic variants that confer differential susceptibility to teratogens, and examination of interactions among genetic risk factors. Information on the methods used and issues faced by the NBDPS may be of value to others considering the addition of DNA sampling to epidemiologic studies.

Neural Tube Defects in Costa Rica, 1987–2012: Origins and Development of Birth Defect Surveillance and Folic Acid Fortification

PubMed Central

de la Paz Barboza-Argüello, María; Umaña-Solís, Lila M.; Azofeifa, Alejandro; Valencia, Diana; Flores, Alina L.; Rodríguez-Aguilar, Sara; Alfaro-Calvo, Thelma; Mulinare, Joseph

2015-01-01

Our aim was to provide a descriptive overview of how the birth defects surveillance and folic acid fortification programs were implemented in Costa Rica—through the establishment of the Registry Center for Congenital Anomalies (Centro de Registro de Enfermedades Congénitas—CREC), and fortification legislation mandates. We estimated the overall prevalence of neural tube defects (i.e., spina bifida, anencephaly and encephalocele) before and after fortification captured by CREC. Prevalence was calculated by dividing the total number of infants born with neural tube defects by the total number of live births in the country (1987–2012).A total of 1,170 newborns with neural tube defects were identified from 1987 to 2012 (1992–1995 data excluded); 628 were identified during the baseline pre-fortification period (1987–1991; 1996–1998); 191 during the fortification period (1999–2002); and 351 during the post-fortification time period (2003–2012). The overall prevalence of neural tube defects decreased from 9.8 per 10,000 live-births (95 % CI 9.1–10.5) for the pre-fortification period to 4.8 per 10,000 live births (95 % CI 4.3–5.3) for the post–fortification period. Results indicate a statistically significant (P < 0.05) decrease of 51 % in the prevalence of neural tube defects from the pre-fortification period to the post-fortification period. Folic acid fortification via several basic food sources has shown to be a successful public health intervention for Costa Rica. Costa Rica’s experience can serve as an example for other countries seeking to develop and strengthen both their birth defects surveillance and fortification programs. PMID:24952876

The Co-Occurrence of Autism and Birth Defects: Prevalence and Risk in a Population-Based Cohort

ERIC Educational Resources Information Center

Schendel, Diana E.; Autry, Andrew; Wines, Roberta; Moore, Cynthia

2009-01-01

Aim: To estimate the prevalence of major birth defects among children with autism, the prevalence of autism in children with birth defects, and the risk for autism associated with having birth defects. Method: Retrospective cohort including all children born in Atlanta, GA, USA, 1986 to 1993, who survived to age 3 years and were identified through…

Lack of periconceptional vitamins or supplements that contain folic acid and diabetes mellitus–associated birth defects

PubMed Central

Correa, Adolfo; Gilboa, Suzanne M.; Botto, Lorenzo D.; Moore, Cynthia A.; Hobbs, Charlotte A.; Cleves, Mario A.; Riehle-Colarusso, Tiffany J.; Waller, D. Kim; Reece, E. Albert

2016-01-01

OBJECTIVE The purpose of this study was to examine the risk of birth defects in relation to diabetes mellitus and the lack of use of periconceptional vitamins or supplements that contain folic acid. STUDY DESIGN The National Birth Defects Prevention Study (1997-2004) is a multicenter, population-based case-control study of birth defects (14,721 cases and 5437 control infants). Cases were categorized into 18 types of heart defects and 26 noncardiac birth defects. We estimated odds ratios for independent and joint effects of preexisting diabetes mellitus and a lack of periconceptional use of vitamins or supplements that contain folic acid. RESULTS The pattern of odds ratios suggested an increased risk of defects that are associated with diabetes mellitus in the absence vs the presence of the periconceptional use of vitamins or supplements that contain folic acid. CONCLUSION The lack of periconceptional use of vitamins or supplements that contain folic acid may be associated with an excess risk for birth defects due to diabetes mellitus. PMID:22284962

[Propeller facial artery perforator flap for repairing defect after resection of skin malignant tumor at upper lip].

PubMed

Yao, Yuanzhen; Tang, Xiujun; Wang, Dali; Wei, Zairong; Wang, Bo; Deng, Chengliang; Zhang, Ziyang; Jin, Wenhu

2018-02-01

To explore the effectiveness of propeller facial artery perforator flap to repair the defect after resection of skin malignant tumor at upper lip. Between July 2012 and January 2017, 17 cases with skin malignant tumor at upper lip underwent tumor resection and the remained defect was repaired with propeller facial artery perforator flap. Among the 17 patients, 3 were male and 14 were female, with an average age of 57 years (range, 35-82 years). There were 5 cases of squamous cell carcinoma and 12 cases of basal cell carcinoma. The disease duration ranged from 4 months to 11 years with an average of 20 months. The tumor size ranged from 1.4 cm×0.3 cm to 3.1 cm×1.4 cm. The extended resection of the tumor tissue was performed according to the characters of tumor. According to the location, size, and shape of the defect and the position of facial artery perforator explored with Doppler ultrasonography, the propeller facial artery perforator flap was designed to repair the defect and partial donor site. The flap size ranged from 5 cm×2 cm to 7 cm×3 cm. The length of the perforator pedicle was 0.5-1.0 cm with an average of 0.8 cm. The defect at donor site was directly closed. Cyanosis occurred in 3 cases of the distal flap after operation, then healing after symptomatic treatment. The remaining flaps survived successfully and the wound healed by first intention. Primary healing was obtained in the donor site. All the patients were followed up 6-36 months with an average of 18 months. The shape of the patient's upper lip was good and the scar on the donor site was unconspicuous. There was no lip deformity, ala nasi deflection, facial tension, entilation dysfunction, or recurrence of tumor during follow-up. At last follow-up, the results of self-evaluation were very satisfactory in 13 cases and satisfactory in 4 cases. Based on multiple advantages of good blood supply, large rotation range, aesthetic outcome, and slight injury of the donor site, propeller facial artery

Prevalence and Risk of Birth Defects Observed in a Prospective Cohort Study: The Hokkaido Study on Environment and Children's Health.

PubMed

Hanaoka, Tomoyuki; Tamura, Naomi; Ito, Kumiko; Sasaki, Seiko; Araki, Atsuko; Ikeno, Tamiko; Miyashita, Chihiro; Ito, Sachiko; Minakami, Hisanori; Cho, Kazutoshi; Endo, Toshiaki; Baba, Tsuyoshi; Miyamoto, Toshinobu; Sengoku, Kazuo; Kishi, Reiko

2018-03-05

Prevalence rates of all anomalies classified as birth defects, including those identified before the 22nd gestational week, are limited in published reports, including those from the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). In our birth cohort study, we collected the data for all birth defects after 12 weeks of gestation. Subjects in this study comprised 19,244 pregnant women who visited one of 37 associated hospitals in the Hokkaido Prefecture from 2003 through 2012, and completed follow-up. All birth defects after 12 weeks of gestation, including 55 marker anomalies associated with environmental chemical exposures, were recorded. We examined parental risk factors for birth defects and the association between birth defects and risk of growth retardation. Prevalence of all birth defects was 18.9/1,000 births. The proportion of patients with birth defects delivered between 12 and 21 weeks of gestation was approximately one-tenth of all patients with birth defects. Among those with congenital malformation of the nerve system, 39% were delivered before 22 weeks of gestation. All patients with anencephaly and encephalocele were delivered before 22 weeks of gestation. We observed different patterns of parental risk factors between birth defect cases included in ISBDSR and cases not included. Cases included in ISBDSR were associated with an increased risk of preterm birth. Cases not included in ISBDSR were associated with an increased risk of being small for gestational age at term. Data from our study complemented the data from ICBDSR. We recommend that birth defects not included in ICBDSR also be analyzed to elucidate the etiology of birth defects.

[Reconstruction of zygomatic-facial massive defect using modified bilobed flap after resection of skin cancer].

PubMed

Ling, Bin; Abass, Keremu; Hu, Mei; Yin, Xiaopeng; Hu, Lulu; Lin, Zhaoquan; Gong, Zhongcheng

2013-01-01

To investigate the clinical application of the modified bilobed flap in the reconstruction of zygomatic-facial massive defect after resection of skin cancer. Between August 2009 and October 2011, 15 patients with skin cancer in the zygomatic-facial region underwent defect reconstruction using modified bilobed flaps after surgical removal. There were 12 males and 3 females, aged 52-78 years (mean, 64.1 years). The disease duration was 1-14 months (mean, 4.6 months). Among the patients, there were 11 cases of basal cell carcinoma and 4 cases of squamous cell carcinoma; 1 patient had infection and the others had no skin ulceration; and tumor involved the skin layer in all patients. According to TNM staging, 13 cases were rated as T2N0M2 and 2 cases as T3N0M3. The defect size ranged from 4.0 cm x 2.5 cm to 6.5 cm x 4.0 cm after cancer resection. The modified bilobed flaps consisting of pre-auricular flap and post-auricular flap was used to repair the defect after cancer resection. The size ranged from 4.0 cm x 2.5 cm to 6.5 cm x 4.0 cm of the first flap and from 3.0 cm x 2.0 cm to 5.0 cm x 3.0 cm of the second flap. Partial incision dehiscence occurred in 1 case, and was cured after dressing change; the flaps survived and incision healed primarily in the other cases. Fourteen patients were followed up 12-24 months (mean, 18.7 months). No recurrence was found, and the patients had no obvious face asymmetry or skin scar with normal closure of eyelid and facial nerve function. At last follow-up, the results were very satisfactory in 5 cases, satisfactory in 7 cases, generally satisfactory in 1 case, and dissatisfactory in 1 case. The pre- and post-auricular bilobed flaps could be used to reconstruct the massive defects in the zygomatic-facial region after resection of skin cancer.

Chimeric anterolateral thigh free flap for reconstruction of complex cranio-orbito-facial defects after skull base cancers resection.

PubMed

Cherubino, Mario; Turri-Zanoni, Mario; Battaglia, Paolo; Giudice, Marco; Pellegatta, Igor; Tamborini, Federico; Maggiulli, Francesca; Guzzetti, Luca; Di Giovanna, Danilo; Bignami, Maurizio; Calati, Carolina; Castelnuovo, Paolo; Valdatta, Luigi

2017-01-01

Complex cranio-orbito-facial defects after skull base cancers resection entail a functional and esthetic reconstruction. The introduction of endoscopic assisted techniques for excision surgery with the advances in reconstructive surgery and anesthesiology allowed to improve the management of such critical patients. We report a series of chimeric anterolateral thigh (ALT) flaps used to reconstruct complex cranio-orbital-facial defects after skull base surgery. A retrospective review of patients that underwent cranio-orbito-facial reconstruction using a chimeric ALT flap from March 2013 to October 2015 at a single tertiary care referral Institute was performed. All patients were affected by locally-advanced malignant tumor and the resulting defects involved the skull base in all cases. The ALT flaps were perforator-based flaps with different components: fascia, skin and muscle. The different flap territories had independent vascular supply and were independent of any physical interconnection except where linked by a common source vessel. Ten patients were included in the study. Three patients underwent adjuvant radiotherapy and to chemotherapy. The mean hospitalization time was 21 days (range, 8-24 days). One failure was observed. After a mean follow-up of 12.4 months, 3 patients died of the disease, 2 are alive with disease, while 5 patients (50%) are currently alive without evidence of disease. Chimeric ALT flap is a reliable and versatile reconstructive option for complex cranio-orbito-facial defects resulting from skull base surgery. The chimeric flap composed of different territories proved to be adequate for a patient-tailored three-dimensional reconstruction of the defects as well as able to resist to the postoperative adjuvant treatments. Copyright © 2016 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Birth defects among a cohort of infants born to HIV-infected women on antiretroviral medication

PubMed Central

Watts, D. Heather; Huang, Sharon; Culnane, Mary; Kaiser, Kathleen A.; Scheuerle, Angela; Mofenson, Lynne; Stanley, Kenneth; Newell, Marie-Louise; Mandelbrot, Laurent; Delfraissy, Jean-Francois; Cunningham, Coleen K.

2011-01-01

Objective To determine rate of and risk factors for birth defects in infants born to HIV-infected women receiving nucleoside and protease inhibitor antiretroviral (ARV) therapy. Methods Birth defects were evaluated among infants on the Pediatric AIDS Clinical Trials Group 316 trial that studied addition of peripartum nevirapine to established ARV regimen for prevention of mother-to-child transmission. Maternal therapy was categorized by trimester of earliest exposure. Birth defects were coded using conventions of the Antiretroviral Pregnancy Registry. Results Birth defects were detected in 60/1414 (4.2%; 95% CI 3.3–5.4%) infants including 30/636 (4.7%; 95% CI 3.2–6.7%) with first trimester ARV exposure and 30/778 (3.9%; 95% CI 2.6–5.5%) with exposure only after the first trimester (P=0.51). Rates of classes of defects were similar between first trimester compared to later exposure groups except heart defects which occurred in 16 (2.5%; 95% CI 1.4–4.1%) with first trimester ARV exposure and in six (0.8%; 95% CI 0.3–1.7%) infants with later exposure (P=0.02). Exposure to ARV was not associated with specific types of heart defects. Two cases of cardiomyopathy were noted. Conclusion ARV use in early pregnancy was not associated with an increased risk of birth defects overall. The possible association of ARV exposure with heart defects requires further surveillance. PMID:21142844

3D-Ultrasonography for evaluation of facial muscles in patients with chronic facial palsy or defective healing: a pilot study.

PubMed

Volk, Gerd Fabian; Pohlmann, Martin; Finkensieper, Mira; Chalmers, Heather J; Guntinas-Lichius, Orlando

2014-01-01

While standardized methods are established to examine the pathway from motorcortex to the peripheral nerve in patients with facial palsy, a reliable method to evaluate the facial muscles in patients with long-term palsy for therapy planning is lacking. A 3D ultrasonographic (US) acquisition system driven by a motorized linear mover combined with conventional US probe was used to acquire 3D data sets of several facial muscles on both sides of the face in a healthy subject and seven patients with different types of unilateral degenerative facial nerve lesions. The US results were correlated to the duration of palsy and the electromyography results. Consistent 3D US based volumetry through bilateral comparison was feasible for parts of the frontalis muscle, orbicularis oculi muscle, depressor anguli oris muscle, depressor labii inferioris muscle, and mentalis muscle. With the exception of the frontal muscle, the facial muscles volumes were much smaller on the palsy side (minimum: 3% for the depressor labii inferior muscle) than on the healthy side in patients with severe facial nerve lesion. In contrast, the frontal muscles did not show a side difference. In the two patients with defective healing after spontaneous regeneration a decrease in muscle volume was not seen. Synkinesis and hyperkinesis was even more correlated to muscle hypertrophy on the palsy compared with the healthy side. 3D ultrasonography seems to be a promising tool for regional and quantitative evaluation of facial muscles in patients with facial palsy receiving a facial reconstructive surgery or conservative treatment.

3D-Ultrasonography for evaluation of facial muscles in patients with chronic facial palsy or defective healing: a pilot study

PubMed Central

2014-01-01

Background While standardized methods are established to examine the pathway from motorcortex to the peripheral nerve in patients with facial palsy, a reliable method to evaluate the facial muscles in patients with long-term palsy for therapy planning is lacking. Methods A 3D ultrasonographic (US) acquisition system driven by a motorized linear mover combined with conventional US probe was used to acquire 3D data sets of several facial muscles on both sides of the face in a healthy subject and seven patients with different types of unilateral degenerative facial nerve lesions. Results The US results were correlated to the duration of palsy and the electromyography results. Consistent 3D US based volumetry through bilateral comparison was feasible for parts of the frontalis muscle, orbicularis oculi muscle, depressor anguli oris muscle, depressor labii inferioris muscle, and mentalis muscle. With the exception of the frontal muscle, the facial muscles volumes were much smaller on the palsy side (minimum: 3% for the depressor labii inferior muscle) than on the healthy side in patients with severe facial nerve lesion. In contrast, the frontal muscles did not show a side difference. In the two patients with defective healing after spontaneous regeneration a decrease in muscle volume was not seen. Synkinesis and hyperkinesis was even more correlated to muscle hypertrophy on the palsy compared with the healthy side. Conclusion 3D ultrasonography seems to be a promising tool for regional and quantitative evaluation of facial muscles in patients with facial palsy receiving a facial reconstructive surgery or conservative treatment. PMID:24782657

Collection, use, and protection of population-based birth defects surveillance data in the united states.

PubMed

Mai, Cara T; Law, David J; Mason, Craig A; McDowell, Bradley D; Meyer, Robert E; Musa, Debra

2007-12-01

Birth defects surveillance systems collect population-based birth defects data from multiple sources to track trends in prevalence, identify risk factors, refer affected families to services, and evaluate prevention efforts. Strong state and federal public health and legal mandates are in place to govern the collection and use of these data. Despite the prima facie appeal of "opt-in" and similar strategies to those who view data collection as a threat to privacy, the use of these strategies in lieu of population-based surveillance can severely limit the ability of public health agencies to accurately access the health status of a group within a defined geographical area. With the need for population-based data central to their mission, birth defects programs around the country take their data stewardship role seriously, recognizing both moral and legal obligations to protect the data by employing numerous safeguards. Birth defects surveillance systems are shaped by the needs of the community they are designed to serve, with the goal of preventing birth defects or alleviating the burdens associated with them. (c) 2007 Wiley-Liss, Inc.

Exploring the seasonality of birth defects in the New York State Congenital Malformations Registry.

PubMed

Caton, Alissa R

2012-06-01

Examining seasonal patterns of birth defects may help to identify environmental risk factors. Because the teratogenic window for most birth defects is during gestational weeks 3 to 8, investigating exposures closer to the timing of conception is important. However, studies are usually based on month of birth, which is not the biologically relevant exposure period and does not account for differences in gestational length. We aimed to determine whether the occurrence of birth defects varied by month of conception using the population-based New York State Congenital Malformations Registry (CMR). We merged live birth certificates (n = 2,044,091) with CMR records for mothers residing in New York State, excluding New York City, for the years 1992 through 2006. We categorized birth defects according to the National Birth Defects Prevention Network guidelines and performed Cochran-Armitage trend, Hewitt-Rogerson, and Walter-Elwood tests on month of conception and chi-square tests on season of conception. We graphed seasonal distributions and seasonality test results. We performed stratified analyses by maternal and infant characteristics. Of 42 groups examined in the 15-year period, 24 (57%) had at least one statistically significant test result, suggesting a trend or seasonal variation: Cochran-Armitage (18), Hewitt-Rogerson (17), Walter-Elwood (4), and chi-square (5). Ventricular septal defect showed the most consistent results: Cochran-Armitage (p = 0.0006), Hewitt-Rogerson (December to May; p = 0.0130), Walter-Elwood (March 14; p = 0.0027), and chi-square (winter; p = 0.0046). Congenital cataract, pulmonary valve atresia/stenosis, coarctation of aorta, biliary atresia, and renal agenesis or hypoplasia had at least three significant tests. These results may help to generate hypotheses about environmental factors that vary by season for further studies. Copyright © 2012 Wiley Periodicals, Inc.

Bendectin and birth defects: I. A meta-analysis of the epidemiologic studies.

PubMed

McKeigue, P M; Lamm, S H; Linn, S; Kutcher, J S

1994-07-01

"Bendectin" (Doxylamine/Dicyclomine/Pyridoxine) was widely used for the treatment of nausea and vomiting of pregnancy until 1983, when production was discontinued in the face of lawsuits alleging that the drug caused congenital malformations. We have conducted a meta-analysis of the 16 cohort and 11 case-control studies that report birth defects from Bendectin-exposed pregnancies. This meta-analysis provides an estimate of the relative risk of malformation at birth in association with Bendectin exposure. The pooled estimate of the relative risk of any malformation at birth in association with exposure to Bendectin in the first trimester was 0.95 (95% Cl 0.88 to 1.04). Separate analyses were undertaken for cardiac defects, central nervous system defects, neural tube defects, limb reductions, oral clefts, and genital tract malformations. In these categories, the pooled estimates of relative risk ranged from 0.81 for oral clefts to 1.11 for limb reductions, with all 95% confidence intervals enclosing unity. With the exception of studies for oral clefts and for pyloric stenosis, tests for heterogeneity of association indicated for each table that all studies were estimating the same odds ratio. These studies, as a group, showed no difference in the risk of birth defects between those infants whose mothers had taken Bendectin during the first trimester of pregnancy and those infants whose mothers had not. It is unlikely that Bendectin exposure contributed to the prevalence of congenital malformations in the population.

Reconstruction of oral cavity defects with FAMM (facial artery musculomucosal) flaps. Our experience.

PubMed

Sumarroca, Anna; Rodríguez-Bauzà, Elena; Vega, Carmen; Fernández, Manuel; Masià, Jaume; Quer, Miquel; León, Xavier

2015-01-01

The facial artery musculomucosal (FAMM) flap is a good option for covering small and medium-sized defects in the oral cavity because of its similar tissue characteristics and easy implementation. We reviewed our results using this flap between 2006 and 2014. A total of 20 patients were included and 25 FAMM flaps were performed, 16 right (64%) and 9 left (36%) flaps. Five patients had simultaneous bilateral reconstructions. The indications for flap surgery were reconstruction after resection of tumours in the floor of the mouth (8 cases, 40%), tumours in other sites of the oral cavity (4 cases, 20%), mandibular osteoradionecrosis (4 cases, 20%), oroantral fistula (3 cases, 15%) and postoperative ankyloglossia (one case, 5%). Reconstruction was successful in 92% of cases (n=23). Total flap necrosis occurred in one case and dehiscence with exposure of bone in another. Oral function and ingestion were satisfactory in all patients. The facial artery musculomucosal flap is reliable and versatile for reconstruction of small and medium-sized intraoral defects. It allows functional reconstruction of the oral cavity with a low risk of complications. Copyright © 2014 Elsevier España, S.L.U. y Sociedad Española de Otorrinolaringología y Patología Cérvico-Facial. All rights reserved.

Occurrence of Conotruncal Heart Birth Defects in Texas: A Comparison of Urban/Rural Classifications

ERIC Educational Resources Information Center

Langlois, Peter H.; Jandle, Leigh; Scheuerle, Angela; Horel, Scott A.; Carozza, Susan E.

2010-01-01

Purpose: (1) Determine if there is an association between 3 conotruncal heart birth defects and urban/rural residence of mother. (2) Compare results using different methods of measuring urban/rural status. Methods: Data were taken from the Texas Birth Defects Registry, 1999-2003. Poisson regression was used to compare crude and adjusted birth…

Application of data screening to drug exposure in large risk factor studies of birth defects.

PubMed

Louik, Carol; Werler, Martha; Anderka, Marlene; Mitchell, Allen A

2015-08-01

Birth defects are the leading cause of infant death. While causes of most are unknown, those that might be due to medication use are among the most preventable. This study describes an approach to identifying those medications that most warrant attention by using a "screen" program that calculates odds ratios for pairs of exposures and specific birth defects. We discuss the development of this tool and illustrate its application to two large risk factor studies, the Slone Epidemiology Center's Birth Defects Study and the Centers for Disease Control and Prevention's National Birth Defects Prevention Study, ideal settings for the systematic study of risks and relative safety of drugs in relation to birth defects while recognizing the inherent limitations of such an approach. Suggestions for establishing criteria for exposures and outcomes that balance the need for specific details with the practical considerations of sample size and volume of output are presented. Selection of appropriate exposure reference categories and control groups is also discussed, as well as the need to address potential confounding. An example that motivated a detailed investigation of possible associations between a medication (butalbital) and selected specific birth defects is provided. While screening programs such as the one described can be a valuable tool for exploring potential associations in large data bases, they must be applied with caution. The issue of multiple testing and chance findings is a major concern. While statistics are a necessary component, human judgment must be an integral part of the process. © 2015 Wiley Periodicals, Inc.

Birth Defects Among Fetuses and Infants of US Women With Evidence of Possible Zika Virus Infection During Pregnancy.

PubMed

Honein, Margaret A; Dawson, April L; Petersen, Emily E; Jones, Abbey M; Lee, Ellen H; Yazdy, Mahsa M; Ahmad, Nina; Macdonald, Jennifer; Evert, Nicole; Bingham, Andrea; Ellington, Sascha R; Shapiro-Mendoza, Carrie K; Oduyebo, Titilope; Fine, Anne D; Brown, Catherine M; Sommer, Jamie N; Gupta, Jyoti; Cavicchia, Philip; Slavinski, Sally; White, Jennifer L; Owen, S Michele; Petersen, Lyle R; Boyle, Coleen; Meaney-Delman, Dana; Jamieson, Denise J

2017-01-03

Understanding the risk of birth defects associated with Zika virus infection during pregnancy may help guide communication, prevention, and planning efforts. In the absence of Zika virus, microcephaly occurs in approximately 7 per 10 000 live births. To estimate the preliminary proportion of fetuses or infants with birth defects after maternal Zika virus infection by trimester of infection and maternal symptoms. Completed pregnancies with maternal, fetal, or infant laboratory evidence of possible recent Zika virus infection and outcomes reported in the continental United States and Hawaii from January 15 to September 22, 2016, in the US Zika Pregnancy Registry, a collaboration between the CDC and state and local health departments. Laboratory evidence of possible recent Zika virus infection in a maternal, placental, fetal, or infant sample. Birth defects potentially Zika associated: brain abnormalities with or without microcephaly, neural tube defects and other early brain malformations, eye abnormalities, and other central nervous system consequences. Among 442 completed pregnancies in women (median age, 28 years; range, 15-50 years) with laboratory evidence of possible recent Zika virus infection, birth defects potentially related to Zika virus were identified in 26 (6%; 95% CI, 4%-8%) fetuses or infants. There were 21 infants with birth defects among 395 live births and 5 fetuses with birth defects among 47 pregnancy losses. Birth defects were reported for 16 of 271 (6%; 95% CI, 4%-9%) pregnant asymptomatic women and 10 of 167 (6%; 95% CI, 3%-11%) symptomatic pregnant women. Of the 26 affected fetuses or infants, 4 had microcephaly and no reported neuroimaging, 14 had microcephaly and brain abnormalities, and 4 had brain abnormalities without microcephaly; reported brain abnormalities included intracranial calcifications, corpus callosum abnormalities, abnormal cortical formation, cerebral atrophy, ventriculomegaly, hydrocephaly, and cerebellar abnormalities

Maternal occupational pesticide exposure and risk of congenital heart defects in the National Birth Defects Prevention Study.

PubMed

Rocheleau, Carissa M; Bertke, Stephen J; Lawson, Christina C; Romitti, Paul A; Sanderson, Wayne T; Malik, Sadia; Lupo, Philip J; Desrosiers, Tania A; Bell, Erin; Druschel, Charlotte; Correa, Adolfo; Reefhuis, Jennita

2015-10-01

Congenital heart defects (CHDs) are common birth defects, affecting approximately 1% of live births. Pesticide exposure has been suggested as an etiologic factor for CHDs, but previous results were inconsistent. We examined maternal occupational exposure to fungicides, insecticides, and herbicides for 3328 infants with CHDs and 2988 unaffected control infants of employed mothers using data for 1997 through 2002 births from the National Birth Defects Prevention Study, a population-based multisite case-control study. Potential pesticide exposure from 1 month before conception through the first trimester of pregnancy was assigned by an expert-guided task-exposure matrix and job history details self-reported by mothers. Odds ratios (ORs) and 95% confidence intervals (CIs) were estimated using multivariable logistic regression. Maternal occupational exposure to pesticides was not associated with CHDs overall. In examining specific CHD subtypes compared with controls, some novel associations were observed with higher estimated pesticide exposure: insecticides only and secundum atrial septal defect (OR = 1.8; 95% CI, 1.3-2.7, 40 exposed cases); both insecticides and herbicides and hypoplastic left heart syndrome (OR = 5.1; 95% CI, 1.7-15.3, 4 exposed cases), as well as pulmonary valve stenosis (OR = 3.6; 95% CI, 1.3-10.1, 5 exposed cases); and insecticides, herbicides, and fungicides and tetralogy of Fallot (TOF) (OR = 2.2; 95% CI, 1.2-4.0, 13 exposed cases). Broad pesticide exposure categories were not associated with CHDs overall, but examining specific CHD subtypes revealed some increased odds ratios. These results highlight the importance of examining specific CHDs separately. Because of multiple comparisons, additional work is needed to verify these associations. © 2014 Wiley Periodicals, Inc.

Association of birth defects with the mode of assisted reproductive technology in a Chinese data-linkage cohort.

PubMed

Yu, Hui-Ting; Yang, Qing; Sun, Xiao-Xi; Chen, Guo-Wu; Qian, Nai-Si; Cai, Ren-Zhi; Guo, Han-Bing; Wang, Chun-Fang

2018-05-01

To evaluate the impact of assisted reproductive technology (ART) on the offspring of Chinese population. Retrospective, data-linkage cohort. Not applicable. Live births resulting from ART or natural conception. None. Birth defects coded according to ICD-10. Births after ART were more likely to be female and multiple births, especially after intracytoplasmic sperm injection (ICSI). ART was associated with a significantly increased risk of birth defects, especially, among singleton births, a significantly increased risk in fresh-embryo cycles after in vitro fertilization (IVF) and frozen-embryo cycles after ICSI. Associations between ART and multiple defects, between ART and gastrointestinal malformation, genital organs malformation, and musculoskeletal malformation among singleton births, and between ART and cardiac septa malformation among multiple births were observed. This study suggests that ART increases the risk of birth defects. Subgroup analyses indicate higher risk for both fresh and frozen embryos, although nonsignificantly for frozen embryos after IVF and for fresh embryos were presented with low power. Larger sample size research is needed to clarify effects from fresh- or frozen-embryo cycles after IVF and ICSI. Copyright © 2018 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Analysis of birth defects among children 3 years after conception through assisted reproductive technology in China.

PubMed

Yin, Li; Hang, Fu; Gu, Long-jie; Xu, Bei; Ma, Ding; Zhu, Gui-jin

2013-11-01

Previous studies inconsistently suggest that assisted reproduction technology (ART) may increase the risk of birth defects in children. Live birth infants, conceived by in vitro fertilization fresh embryo transfer (IVF), intracytoplasmic sperm injection fresh embryo transfer (ICSI), or frozen-thawed embryo transfer (FET) in Reproductive Center of Tongji Hospital (Wuhan, China) between 1997 and 2008, were followed up at birth and after 3 years. Preterm pregnancy, multiple pregnancy, sex ratio (male/female), congenital malformation were compared. A total of 4,236 children were born after ART (IVF 2,543, ICSI 908, FET 785). Compared with IVF, the rate of preterm pregnancy and sex ratio in ICSI were lower (p < 0.05); the rate of multiple pregnancy in ICSI and FET were all lower than IVF (p < 0.05). Congenital defects were comparable in all groups at birth. In total, 2,908 children participated in the second follow-up from 34 months to 60 months with an average of 40 months, and the cases of birth defects had doubled (3 years: 5.16%, birth: 2.22%). The birth defect rate in boys conceived through ICSI was significantly higher than the IVF group after 3-year follow-up (ICSI boys: 8.62%, IVF boys: 5.21% [p < 0.05]), even though there was no significant difference at birth. Compared with IVF, FET may not increase risk of birth defects. Children conceived through ICSI, especially males, had higher rates of congenital malformations that were inapparent at birth. So longitudinal monitoring may provide insights into the risks of ART. Copyright © 2013 Wiley Periodicals, Inc., a Wiley company.

Selected birth defects among males following the United States terrorist attacks of 11 September 2001.

PubMed

Singh, Parvati; Yang, Wei; Shaw, Gary M; Catalano, Ralph; Bruckner, Tim A

2017-10-02

The terrorist attacks of 11 September 2001 (hereafter referred to as 9/11) preceded an increase in male fetal deaths and reduced male live births among exposed gestational cohorts across several geographic locations in the United States, including California. We analyze whether the extreme stressor of 9/11 may have selected against frail males in utero by testing if the prevalence of male births with selected defects in California fell among cohorts exposed to the stressor during gestation. We used data from the California Birth Defects Monitoring Program from July 1985 to January 2004 (223 conception cohorts). We included six birth defects that as a group of phenotypes disproportionately affect males. We applied time-series methods and defined as "exposed to 9/11" the cohorts conceived in February, March, April, May, June, July, and August 2001. Three of the seven monthly conception cohorts exposed to 9/11 in utero show lower than expected odds of live born males with the studied defects: February 2001 (odds ratio [OR] = 0.39; 95% confidence interval [CI], 0.21-0.71), May 2001 (OR = 0.36; 95% CI, 0.16-0.81), and August 2001 (OR = 0.51; 95% CI, 0.28-0.93). The population-wide stressor of 9/11 precedes a reduction in the risk of live born males with selected birth defects. Our analysis contributes to the understanding of adaptation to stress among pregnant women exposed to large and unexpected ambient stressors. Results further support the notion that the prevalence of live born defects may reflect temporal variation in cohort selection in utero against frail males. Birth Defects Research 109:1277-1283, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

BIRTH DEFECTS IN FOUR U.S. WHEAT-PRODUCING STATES

EPA Science Inventory

Birth Defects in Four U.S. Wheat - Producing States
Dina M. Schreinemachers, National Health and Environmental Effects Research Laboratory, Office of Research and Development, U.S. Environmental Protection Agency, Research Triangle Park, NC 27711

Wheat agriculture in Mi...

Birth Prevalence of Neural Tube Defects and Orofacial Clefts in India: A Systematic Review and Meta-Analysis

PubMed Central

Allagh, Komal Preet; Shamanna, B. R.; Murthy, Gudlavalleti V. S.; Ness, Andy R.; Doyle, Pat; Neogi, Sutapa B.; Pant, Hira B.

2015-01-01

Background In the last two decades, India has witnessed a substantial decrease in infant mortality attributed to infectious disease and malnutrition. However, the mortality attributed to birth defects remains constant. Studies on the prevalence of birth defects such as neural tube defects and orofacial clefts in India have reported inconsistent results. Therefore, we conducted a systematic review of observational studies to document the birth prevalence of neural tube defects and orofacial clefts. Methods A comprehensive literature search for observational studies was conducted in MEDLINE and EMBASE databases using key MeSH terms (neural tube defects OR cleft lip OR cleft palate AND Prevalence AND India). Two reviewers independently reviewed the retrieved studies, and studies satisfying the eligibility were included. The quality of included studies was assessed using selected criteria from STROBE statement. Results The overall pooled birth prevalence (random effect) of neural tube defects in India is 4.5 per 1000 total births (95% CI 4.2 to 4.9). The overall pooled birth prevalence (random effect) of orofacial clefts is 1.3 per 1000 total births (95% CI 1.1 to 1.5). Subgroup analyses were performed by region, time period, consanguinity, and gender of newborn. Conclusion The overall prevalence of neural tube defects from India is high compared to other regions of the world, while that of orofacial clefts is similar to other countries. The majority of studies included in the review were hospital based. The quality of these studies ranged from low to moderate. Further well-designed, high quality community-based observational studies are needed to accurately estimate the burden of neural tube defects and orofacial clefts in India. PMID:25768737

Dental Caries and Enamel Defects in Very Low Birth Weight Adolescents

PubMed Central

Nelson, S.; Albert, J.M.; Lombardi, G.; Wishnek, S.; Asaad, G.; Kirchner, H.L.; Singer, L.T.

2011-01-01

Objectives The purpose of this study was to examine developmental enamel defects and dental caries in very low birth weight adolescents with high risk (HR-VLBW) and low risk (LR-VLBW) compared to full-term (term) adolescents. Methods The sample consisted of 224 subjects (80 HR-VLBW, 59 LR-VLBW, 85 term adolescents) recruited from an ongoing longitudinal study. Sociodemographic and medical information was available from birth. Dental examination of the adolescent at the 14-year visit included: enamel defects (opacity and hypoplasia); decayed, missing, filled teeth of incisors and molars (DMFT-IM) and of overall permanent teeth (DMFT); Simplified Oral Hygiene Index for debris/calculus on teeth, and sealant presence. A caregiver questionnaire completed simultaneously assessed dental behavior, access, insurance status and prevention factors. Hierarchical analysis utilized the zero-inflated negative binomial model and zero-inflated Poisson model. Results The zero-inflated negative binomial model controlling for sociodemographic variables indicated that the LR-VLBW group had an estimated 75% increase (p < 0.05) in number of demarcated opacities in the incisors and first molar teeth compared to the term group. Hierarchical modeling indicated that demarcated opacities were a significant predictor of DMFT-IM after control for relevant covariates. The term adolescents had significantly increased DMFT-IM and DMFT scores compared to the LR-VLBW adolescents. Conclusion LR-VLBW was a significant risk factor for increased enamel defects in the permanent incisors and first molars. Term children had increased caries compared to the LR-VLBW group. The effect of birth group and enamel defects on caries has to be investigated longitudinally from birth. PMID:20975268

Electrophysiologic and functional evaluations of regenerated facial nerve defects with a tube containing dental pulp cells in rats.

PubMed

Sasaki, Ryo; Matsumine, Hajime; Watanabe, Yorikatsu; Takeuchi, Yuichi; Yamato, Masayuki; Okano, Teruo; Miyata, Mariko; Ando, Tomohiro

2014-11-01

Dental pulp tissue contains Schwann and neural progenitor cells. Tissue-engineered nerve conduits with dental pulp cells promote facial nerve regeneration in rats. However, no nerve functional or electrophysiologic evaluations were performed. This study investigated the compound muscle action potential recordings and facial functional analysis of dental pulp cell regenerated nerve in rats. A silicone tube containing rat dental pulp cells in type I collagen gel was transplanted into a 7-mm gap of the buccal branch of the facial nerve in Lewis rats; the same defect was created in the marginal mandibular branch, which was ligatured. Compound muscle action potential recordings of vibrissal muscles and facial functional analysis with facial palsy score of the nerve were performed. Tubulation with dental pulp cells showed significantly lower facial palsy scores than the autograft group between 3 and 10 weeks postoperatively. However, the dental pulp cell facial palsy scores showed no significant difference from those of autograft after 11 weeks. Amplitude and duration of compound muscle action potentials in the dental pulp cell group showed no significant difference from those of the intact and autograft groups, and there was no significant difference in the latency of compound muscle action potentials between the groups at 13 weeks postoperatively. However, the latency in the dental pulp cell group was prolonged more than that of the intact group. Tubulation with dental pulp cells could recover facial nerve defects functionally and electrophysiologically, and the recovery became comparable to that of nerve autografting in rats.

Active Surveillance of Birth Defects Among US Department of Defense Beneficiaries: A Feasibility Study

DTIC Science & Technology

1999-05-01

cleft palate / lip , upper alimentary, male reproductive, and urinary tract birth defects than the active surveillance database. Prevalence for the...the passive CEIS surveillance contained a smaller number of cleft palate / lip , upper alimentary, male reproductive, and urinary tract birth defects...Cardiovascular 33 29 8 63 Respiratory 4 3 0 4 Cleft palate / lip 12 4 3 14 Upper alimentary

Chitosan conduits combined with nerve growth factor microspheres repair facial nerve defects

PubMed Central

Liu, Huawei; Wen, Weisheng; Hu, Min; Bi, Wenting; Chen, Lijie; Liu, Sanxia; Chen, Peng; Tan, Xinying

2013-01-01

Microspheres containing nerve growth factor for sustained release were prepared by a compound method, and implanted into chitosan conduits to repair 10-mm defects on the right buccal branches of the facial nerve in rabbits. In addition, chitosan conduits combined with nerve growth factor or normal saline, as well as autologous nerve, were used as controls. At 90 days post-surgery, the muscular atrophy on the right upper lip was more evident in the nerve growth factor and normal sa-line groups than in the nerve growth factor-microspheres and autologous nerve groups. physiological analysis revealed that the nerve conduction velocity and amplitude were significantly higher in the nerve growth factor-microspheres and autologous nerve groups than in the nerve growth factor and normal saline groups. Moreover, histological observation illustrated that the di-ameter, number, alignment and myelin sheath thickness of myelinated nerves derived from rabbits were higher in the nerve growth factor-microspheres and autologous nerve groups than in the nerve growth factor and normal saline groups. These findings indicate that chitosan nerve conduits bined with microspheres for sustained release of nerve growth factor can significantly improve facial nerve defect repair in rabbits. PMID:25206635

Developing a database management system to support birth defects surveillance in Florida.

PubMed

Salemi, Jason L; Hauser, Kimberlea W; Tanner, Jean Paul; Sampat, Diana; Correia, Jane A; Watkins, Sharon M; Kirby, Russell S

2010-01-01

The value of any public health surveillance program is derived from the ways in which data are managed and used to improve the public's health. Although birth defects surveillance programs vary in their case volume, budgets, staff, and objectives, the capacity to operate efficiently and maximize resources remains critical to long-term survival. The development of a fully-integrated relational database management system (DBMS) can enrich a surveillance program's data and improve efficiency. To build upon the Florida Birth Defects Registry--a statewide registry relying solely on linkage of administrative datasets and unconfirmed diagnosis codes-the Florida Department of Health provided funding to the University of South Florida to develop and pilot an enhanced surveillance system in targeted areas with a more comprehensive approach to case identification and diagnosis confirmation. To manage operational and administrative complexities, a DBMS was developed, capable of managing transmission of project data from multiple sources, tracking abstractor time during record reviews, offering tools for defect coding and case classification, and providing reports to DBMS users. Since its inception, the DBMS has been used as part of our surveillance projects to guide the receipt of over 200 case lists and review of 12,924 fetuses and infants (with associated maternal records) suspected of having selected birth defects in over 90 birthing and transfer facilities in Florida. The DBMS has provided both anticipated and unexpected benefits. Automation of the processes for managing incoming case lists has reduced clerical workload considerably, while improving accuracy of working lists for field abstraction. Data quality has improved through more effective use of internal edits and comparisons with values for other data elements, while simultaneously increasing abstractor efficiency in completion of case abstraction. We anticipate continual enhancement to the DBMS in the future

Birth defects: Risk factors and consequences

PubMed Central

Oliveira, Camila Ive Ferreira; Fett-Conte, Agnes Cristina

2013-01-01

Birth defects (BDs) or congenital anomalies include all structural and functional alterations in embryonic or fetal development resulting from genetic, environmental or unknown causes, which result in physical and/or mental impairment. BDs occur in about 3% of newborn babies and in most cases of pregnancy loss. BDs are a very complex and heterogeneous group of single or multiple changes that, in most cases, are of unknown etiology. Among the risk factors are advanced maternal and paternal ages, parental consanguinity, teratogenic agents such as infectious agents and drugs, and poor nutrition, in particular folic acid deficiency. One of the consequences of these defects is the high death rate within the first year of life. Information on BDs is becoming increasingly more important throughout the world so that preventive measures can be taken. Knowledge of BDs enables the development of therapeutic and preventive strategies besides adequate genetic counseling. PMID:27625844

Maternal residential proximity to chlorinated solvent emissions and birth defects in offspring: a case-control study.

PubMed

Brender, Jean D; Shinde, Mayura U; Zhan, F Benjamin; Gong, Xi; Langlois, Peter H

2014-11-19

Some studies have noted an association between maternal occupational exposures to chlorinated solvents and birth defects in offspring, but data are lacking on the potential impact of industrial air emissions of these solvents on birth defects. With data from the Texas Birth Defects Registry for births occurring in 1996-2008, we examined the relation between maternal residential proximity to industrial air releases of chlorinated solvents and birth defects in offspring of 60,613 case-mothers and 244,927 control-mothers. Maternal residential exposures to solvent emissions were estimated with metrics that took into account residential distances to industrial sources and annual amounts of chemicals released. Logistic regression was used to generate odds ratios and 95% confidence intervals for the associations between residential proximity to emissions of 14 chlorinated solvents and selected birth defects, including neural tube, oral cleft, limb deficiency, and congenital heart defects. All risk estimates were adjusted for year of delivery and maternal age, education, race/ethnicity, and public health region of residence. Relative to exposure risk values of 0, neural tube defects were associated with maternal residential exposures (exposure risk values >0) to several types of chlorinated solvents, most notably carbon tetrachloride (adjusted odds ratio [aOR] 1.42, 95% confidence interval [CI] 1.09, 1.86); chloroform (aOR 1.40, 95% CI 1.04, 1.87); ethyl chloride (aOR 1.39, 95% CI 1.08, 1.79); 1,1,2-trichloroethane (aOR 1.56, 95% CI 1.11, 2.18); and 1,2,3-trichloropropane (aOR 1.49, 95% CI 1.08, 2.06). Significant associations were also noted between a few chlorinated solvents and oral cleft, limb deficiency, and congenital heart defects. We observed stronger associations between some emissions and neural tube, oral cleft, and heart defects in offspring of mothers 35 years or older, such as spina bifida with carbon tetrachloride (aOR 2.49, 95% CI 1.09, 5.72), cleft palate

Association of stress and depression with chronic facial pain: A case-control study based on the Northern Finland 1966 Birth Cohort.

PubMed

Nevalainen, Netta; Lähdesmäki, Raija; Mäki, Pirjo; Ek, Ellen; Taanila, Anja; Pesonen, Paula; Sipilä, Kirsi

2017-05-01

The aim was to study the association between stress level and chronic facial pain, while controlling for the effect of depression on this association, during a three-year follow-up in a general population-based birth cohort. In the general population-based Northern Finland 1966 Birth Cohort, information about stress level, depression and facial pain were collected using questionnaires at the age of 31 years. Stress level was measured using the Work Ability Index. Depression was assessed using the 13-item depression subscale in the Hopkins Symptom Checklist-25. Three years later, a subsample of 52 subjects (42 women) with chronic facial pain and 52 pain-free controls (42 women) was formed. Of the subjects having high stress level at baseline, 73.3% had chronic facial pain, and 26.7% were pain-free three years later. The univariate logistic regression analysis showed that high stress level at 31 years increased the risk for chronic facial pain (crude OR 6.1, 95%, CI 1.3-28.7) three years later. When including depression in a multivariate model, depression associated statistically significantly with chronic facial pain (adjusted OR 2.5, 95%, CI 1.0-5.8), whereas stress level did not (adjusted OR 2.3, 95%, CI 0.6-8.4). High stress level is connected with increased risk for chronic facial pain. This association seems to mediate through depression.

Population-Based Surveillance of Birth Defects Potentially Related to Zika Virus Infection - 15 States and U.S. Territories, 2016.

PubMed

Delaney, Augustina; Mai, Cara; Smoots, Ashley; Cragan, Janet; Ellington, Sascha; Langlois, Peter; Breidenbach, Rebecca; Fornoff, Jane; Dunn, Julie; Yazdy, Mahsa; Scotto-Rosato, Nancy; Sweatlock, Joseph; Fox, Deborah; Palacios, Jessica; Forestieri, Nina; Leedom, Vinita; Smiley, Mary; Nance, Amy; Lake-Burger, Heather; Romitti, Paul; Fall, Carrie; Prado, Miguel Valencia; Barton, Jerusha; Bryan, J Michael; Arias, William; Brown, Samara Viner; Kimura, Jonathan; Mann, Sylvia; Martin, Brennan; Orantes, Lucia; Taylor, Amber; Nahabedian, John; Akosa, Amanda; Song, Ziwei; Martin, Stacey; Ramlal, Roshan; Shapiro-Mendoza, Carrie; Isenburg, Jennifer; Moore, Cynthia A; Gilboa, Suzanne; Honein, Margaret A

2018-01-26

Zika virus infection during pregnancy can cause serious birth defects, including microcephaly and brain abnormalities (1). Population-based birth defects surveillance systems are critical to monitor all infants and fetuses with birth defects potentially related to Zika virus infection, regardless of known exposure or laboratory evidence of Zika virus infection during pregnancy. CDC analyzed data from 15 U.S. jurisdictions conducting population-based surveillance for birth defects potentially related to Zika virus infection.* Jurisdictions were stratified into the following three groups: those with 1) documented local transmission of Zika virus during 2016; 2) one or more cases of confirmed, symptomatic, travel-associated Zika virus disease reported to CDC per 100,000 residents; and 3) less than one case of confirmed, symptomatic, travel-associated Zika virus disease reported to CDC per 100,000 residents. A total of 2,962 infants and fetuses (3.0 per 1,000 live births; 95% confidence interval [CI] = 2.9-3.2) (2) met the case definition. † In areas with local transmission there was a non-statistically significant increase in total birth defects potentially related to Zika virus infection from 2.8 cases per 1,000 live births in the first half of 2016 to 3.0 cases in the second half (p = 0.10). However, when neural tube defects and other early brain malformations (NTDs) § were excluded, the prevalence of birth defects strongly linked to congenital Zika virus infection increased significantly, from 2.0 cases per 1,000 live births in the first half of 2016 to 2.4 cases in the second half, an increase of 29 more cases than expected (p = 0.009). These findings underscore the importance of surveillance for birth defects potentially related to Zika virus infection and the need for continued monitoring in areas at risk for Zika.

Association Between Infant Mortality Attributable to Birth Defects and Payment Source for Delivery - United States, 2011-2013.

PubMed

Almli, Lynn M; Alter, Caroline C; Russell, Rebecca B; Tinker, Sarah C; Howards, Penelope P; Cragan, Janet; Petersen, Emily; Carrino, Gerard E; Reefhuis, Jennita

2017-01-27

Birth defects are a leading cause of infant mortality in the United States (1), accounting for approximately 20% of infant deaths. The rate of infant mortality attributable to birth defects (IMBD) in the United States in 2014 was 11.9 per 10,000 live births (1). Rates of IMBD differ by race/ethnicity (2), age group at death (2), and gestational age at birth (3). Insurance type is associated with survival among infants with congenital heart defects (CHD) (4). In 2003, a checkbox indicating principal payment source for delivery was added to the U.S. standard birth certificate (5). To assess IMBD by payment source for delivery, CDC analyzed linked U.S. birth/infant death data for 2011-2013 from states that adopted the 2003 revision of the birth certificate. The results indicated that IMBD rates for preterm (<37 weeks of gestation) and term (≥37 weeks) infants whose deliveries were covered by Medicaid were higher during the neonatal (<28 days) and postneonatal (≥28 days to <1 year) periods compared with infants whose deliveries were covered by private insurance. Similar differences in postneonatal mortality were observed for the three most common categories of birth defects listed as a cause of death: central nervous system (CNS) defects, CHD, and chromosomal abnormalities. Strategies to ensure quality of care and access to care might reduce the difference between deliveries covered by Medicaid and those covered by private insurance.

Propeller facial artery perforator flap as first reconstructive option for nasolabial and perinasal complex defects.

PubMed

Ruiz-Moya, A; Lagares-Borrego, A; Infante-Cossío, P

2015-04-01

Facial cutaneous oncological pathology often involves more than one esthetic unit due to their close boundaries. The reconstruction of both the nasolabial and perinasal regions may be especially complex and challenging for the surgeon. Traditionally, these defects have been reconstructed with local random flaps based on the vascularization provided by the superficial musculoaponeurotic system. In this article, we present our experience in the reconstruction of the aforementioned defects using the propeller facial artery perforator (FAP) flap. A propeller FAP flap was performed for reconstruction in 12 patients with nasolabial or perinasal complex defects after tumoral resection between the years 2011 and 2013. The flap was designed parallel to the nasolabial fold in all cases for achieving direct closure and an aesthetically pleasing outcome. In one of the cases, a paramedian forehead flap was performed simultaneously. Nine patients healed uneventfully, with good functional and esthetic outcomes. One of the flaps developed partial necrosis of the distal end, and another developed temporary postoperative venous congestion, lymphedema, and, finally, trapdoor deformity. The latter complication also occurred in one more flap. The propeller FAP flap is reliable and versatile, with few complications, and it is especially useful when reconstructing complex defects that involve the nasolabial and perinasal regions; therefore, it should be considered as one of the first reconstructive options for the described defects. Copyright © 2014 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

Maternal exposures in the National Birth Defects Prevention Study: Time trends of selected exposures.

PubMed

Dawson, April L; Razzaghi, Hilda; Arth, Annelise; Canfield, Mark A; Parker, Samantha E; Reefhuis, Jennita

2015-08-01

Our objective was to describe time trends in selected pregnancy exposures in the National Birth Defects Prevention Study (NBDPS). We analyzed data from the NBDPS, a multi-site case-control study of major birth defects, for mothers of live-born infants without birth defects (controls), with an expected date of delivery (EDD) from 1998 to 2011. Mothers from the 10 participating centers across the United States were interviewed by phone between 6 weeks and 2 years after the EDD. We focused on maternal race/ethnicity and five maternal risk factors: obesity, use of folic acid-containing multivitamins, opioid analgesics, selective serotonin reuptake inhibitors, and loratadine because of their prevalence of use and some reports of associations with major birth defects. Prevalence time trends were examined using the Kendall's τβ test statistic. The exposure trend analysis included 11,724 control mothers with EDDs from 1998 to 2011. We observed a significant increase in obesity prevalence among control mothers, as well as use of selective serotonin reuptake inhibitors and loratadine. We also observed an increase in periconceptional use of folic acid-containing multivitamins. Some of the time trends varied by race/ethnicity. No remarkable trend in the overall use of opioid analgesics was observed. The racial/ethnic distribution of mothers changed slightly during the study period. Long-term, population-based case-control studies continue to be an effective way to assess exposure-birth defects associations and provide guidance to health care providers. However, investigators examining rare outcomes covering many years of data collection need to be cognizant of time trends in exposures. © 2015 Wiley Periodicals, Inc.

Maternal exposures in the National Birth Defects Prevention Study: time trends of selected exposures

PubMed Central

Dawson, April L.; Razzaghi, Hilda; Arth, Annelise; Canfield, Mark A.; Parker, Samantha E.; Reefhuis, Jennita

2015-01-01

Background Our objective was to describe time trends in selected pregnancy exposures in the National Birth Defects Prevention Study (NBDPS). Methods We analyzed data from the NBDPS, a multi-site case-control study of major birth defects, for mothers of live-born infants without birth defects (controls), with an expected date of delivery (EDD) from 1998 –2011. Mothers from the 10 participating centers across the United States were interviewed by phone between six weeks and two years after the EDD. We focused on maternal race/ethnicity and five maternal risk factors: obesity, use of folic acid-containing multivitamins, opioid analgesics, selective serotonin reuptake inhibitors (SSRIs), and loratadine because of their prevalence of use and some reports of associations with major birth defects. Prevalence time trends were examined using the Kendall’s τβ test statistic. Results The exposure trend analysis included 11,724 control mothers with EDDs from 1998–2011. We observed a significant increase in obesity prevalence among control mothers, as well as use of SSRIs and loratadine. We also observed an increase in periconceptional use of folic acid-containing multivitamins. Some of the time trends varied by race/ethnicity. No remarkable trend in the overall use of opioid analgesics was observed. The racial/ethnic distribution of mothers changed slightly during the study period. Conclusions Long-term, population-based case-control studies continue to be an effective way to assess exposure-birth defects associations and provide guidance to health care providers. However, investigators examining rare outcomes covering many years of data collection need to be cognizant of time trends in exposures. PMID:25884728

Elevated body mass index and decreased diet quality among women and risk of birth defects in their offspring.

PubMed

Carmichael, Suzan L; Yang, Wei; Gilboa, Suzanne; Ailes, Elizabeth; Correa, Adolfo; Botto, Lorenzo D; Feldkamp, Marcia L; Shaw, Gary M

2016-03-01

We examined whether risks of 32 birth defects were higher than expected in the presence of overweight or obese body mass index (BMI) and low diet quality, based on estimating individual and joint effects of these factors and calculating relative excess risk due to interaction. Analyses included mothers of 20,250 cases with birth defects and 8617 population-based controls without birth defects born from 1997 to 2009 and interviewed for the National Birth Defects Prevention Study. We used logistic regression to generate adjusted odds ratios (AORs) reflecting the combined effects of BMI and diet quality. We focused analyses on 16 birth defects (n = 11,868 cases, 8617 controls) for which initial results suggested an association with BMI or diet quality. Relative to the reference group (normal weight women with not low diet quality, i.e., >lowest quartile), AORs for low diet quality among normal weight women tended to be >1, and AORs for overweight and obese women tended to be stronger among women who had low diet quality than not low diet quality. For 9/16 birth defects, AORs for obese women who had low diet quality-the group we hypothesized to have highest risk-were higher than other stratum-specific AORs. Most relative excess risk due to interactions were positive but small (<0.5), with confidence intervals that included zero. These findings provide evidence for the hypothesis of highest birth defect risks among offspring to women who are obese and have low diet quality but insufficient evidence for an interaction of these factors in their contribution to risk. © 2015 Wiley Periodicals, Inc.

Effects and safety of periconceptional folate supplementation for preventing birth defects

PubMed Central

Maria De-Regil, Luz; Fernández-Gaxiola, Ana C; Dowswell, Therese; Peña-Rosas, Juan Pablo

2014-01-01

Background It has been reported that neural tube defects can be prevented with periconceptional folic acid supplementation. The effects of different doses, forms and schemes of folate supplementation for the prevention of other birth defects and maternal and infant outcomes are unclear. Objectives This review updates and expands a previous Cochrane Review assessing the effects of periconceptional supplementation with folic acid to reduce neural tube defects (NTDs). We examined whether folate supplementation before and during early pregnancy can reduce neural tube and other birth defects (including cleft palate) without causing adverse outcomes for mothers or babies. Search methods We searched the Cochrane Pregnancy and Childbirth Group’s Trials Register (July 2010). Additionally, we searched the international clinical trials registry platform and contacted relevant organisations to identify ongoing and unpublished studies. Selection criteria We included all randomised or quasi-randomised trials evaluating the effect of periconceptional folate supplementation alone, or in combination with other vitamins and minerals, in women independent of age and parity. Data collection and analysis We assessed trials for methodological quality using the standard Cochrane criteria. Two authors independently assessed the trials for inclusion, one author extracted data and a second checked for accuracy. Main results Five trials involving 6105 women (1949 with a history of a pregnancy affected by a NTD and 4156 with no history of NTDs) were included. Overall, the results are consistent in showing a protective effect of daily folic acid supplementation (alone or in combination with other vitamins and minerals) in preventing NTDs compared with no interventions/placebo or vitamins and minerals without folic acid (risk ratio (RR) 0.28, 95% confidence interval (CI) 0.15 to 0.52). Only one study assessed the incidence of NTDs and the effect was not statistically significant (RR 0.08, 95

Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study

PubMed Central

2013-01-01

Background Reported birth prevalences of congenital limb defects (CLD) vary between countries: from 13/10,000 in Finland for the period 1964–1977 to 30.4/10,000 births in Scotland from 1964–1968. Epidemiological studies permit the timely detection of trends in CLD and of associations with other birth defects. The aim of this study is to describe the birth prevalence of CLD in the northern Netherlands. Methods In a population-based, epidemiological study we investigated the birth prevalences of CLD for 1981–2010. Data were collected by the European Surveillance of Congenital Anomalies in the northern Netherlands (EUROCAT-NNL). We excluded malpositions, club foot, and dislocation/dysplasia of hips or knees. Trends were analysed for the 19-year period 1992–2010 using χ2 tests, as well as CLD association with anomalies affecting other organs. Results The birth prevalence of CLD was 21.1/10,000 births for 1981–2010. There was an overall decrease in non-syndromic limb defects (P = 0.023) caused by a decrease in the prevalence of non-syndromic syndactyly (P < 0.01) in 1992–2010. Of 1,048 children with CLD, 55% were males, 57% had isolated defects, 13% had multiple congenital anomalies (MCA), and 30% had a recognised syndrome. The upper:lower limb ratio was 2:1, and the left:right side ratio was 1.2:1. Cardiovascular and urinary tract anomalies were common in combination with CLD (37% and 25% of cases with MCA). Digestive-tract anomalies were significantly associated with CLD (P = 0.016). Conclusions The birth prevalence of CLD in the northern Netherlands was 21.1/10,000 births. The birth prevalence of non-syndromic syndactyly dropped from 5.2/10,000 to 1.1/10,000 in 1992–2010. PMID:24237863

Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study.

PubMed

Vasluian, Ecaterina; van der Sluis, Corry K; van Essen, Anthonie J; Bergman, Jorieke E H; Dijkstra, Pieter U; Reinders-Messelink, Heleen A; de Walle, Hermien E K

2013-11-16

Reported birth prevalences of congenital limb defects (CLD) vary between countries: from 13/10,000 in Finland for the period 1964-1977 to 30.4/10,000 births in Scotland from 1964-1968. Epidemiological studies permit the timely detection of trends in CLD and of associations with other birth defects. The aim of this study is to describe the birth prevalence of CLD in the northern Netherlands. In a population-based, epidemiological study we investigated the birth prevalences of CLD for 1981-2010. Data were collected by the European Surveillance of Congenital Anomalies in the northern Netherlands (EUROCAT-NNL). We excluded malpositions, club foot, and dislocation/dysplasia of hips or knees. Trends were analysed for the 19-year period 1992-2010 using χ² tests, as well as CLD association with anomalies affecting other organs. The birth prevalence of CLD was 21.1/10,000 births for 1981-2010. There was an overall decrease in non-syndromic limb defects (P = 0.023) caused by a decrease in the prevalence of non-syndromic syndactyly (P < 0.01) in 1992-2010. Of 1,048 children with CLD, 55% were males, 57% had isolated defects, 13% had multiple congenital anomalies (MCA), and 30% had a recognised syndrome. The upper:lower limb ratio was 2:1, and the left:right side ratio was 1.2:1. Cardiovascular and urinary tract anomalies were common in combination with CLD (37% and 25% of cases with MCA). Digestive-tract anomalies were significantly associated with CLD (P = 0.016). The birth prevalence of CLD in the northern Netherlands was 21.1/10,000 births. The birth prevalence of non-syndromic syndactyly dropped from 5.2/10,000 to 1.1/10,000 in 1992-2010.

Disinfection By-Product Exposures and the Risk of Specific Cardiac Birth Defects

PubMed Central

Wright, J. Michael; Evans, Amanda; Kaufman, John A.; Rivera-Núñez, Zorimar; Narotsky, Michael G.

2016-01-01

Background: Epidemiological studies suggest that women exposed to disinfection by-products (DBPs) have an increased risk of delivering babies with cardiovascular defects (CVDs). Objective: We examined nine CVDs in relation to categorical DBP exposures including bromoform, chloroform, dibromochloromethane (DBCM), bromodichloromethane (BDCM), monobromoacetic acid (MBAA), dichloroacetic acid (DCAA), trichloroacetic acid (TCAA), and summary DBP measures (HAA5, THMBr, THM4, and DBP9). Methods: We calculated adjusted odds ratios (aORs) in a case–control study of birth defects in Massachusetts with complete quarterly 1999–2004 trihalomethane (THM) and haloacetic acid (HAA) data. We randomly matched 10 controls each to 904 CVD cases based on week of conception. Weight-averaged aggregate first-trimester DBP exposures were assigned to individuals based on residence at birth. Results: We detected associations for tetralogy of Fallot and the upper exposure categories for TCAA, DCAA, and HAA5 (aOR range, 3.34–6.51) including positive exposure–response relationships for DCAA and HAA5. aORs consistent in magnitude were detected between atrial septal defects and bromoform (aOR = 1.56; 95% CI: 1.01, 2.43), as well as DBCM, chloroform, and THM4 (aOR range, 1.26–1.67). Ventricular septal defects (VSDs) were associated with the highest bromoform (aOR = 1.85; 95% CI: 1.20, 2.83), MBAA (aOR = 1.81; 95% CI: 0.85, 3.84), and DBCM (aOR = 1.54; 95% CI: 1.00, 2.37) exposure categories. Conclusions: To our knowledge, this is the first birth defect study to develop multi-DBP adjusted regression models as well as the first CVD study to evaluate HAA exposures and the second to evaluate bromoform exposures. Our findings, therefore, inform exposure specificity for the consistent associations previously reported between THM4 and CVDs including VSDs. Citation: Wright JM, Evans A, Kaufman JA, Rivera-Núñez Z, Narotsky MG. 2017. Disinfection by-product exposures and the risk of specific

Safety of inadvertent anthrax vaccination during pregnancy: An analysis of birth defects in the U.S. military population, 2003-2010.

PubMed

Conlin, Ava Marie S; Sevick, Carter J; Gumbs, Gia R; Khodr, Zeina G; Bukowinski, Anna T

2017-08-03

Anthrax vaccine adsorbed (AVA) vaccination is compulsory for United States military servicemembers with operational indicators. As the number of female military servicemembers has increased, so has the chance of inadvertent AVA vaccination during pregnancy. Building upon past analyses assessing AVA vaccination during pregnancy and birth defects risk, this study sought to determine if inadvertent AVA vaccination during pregnancy is significantly associated with risk of birth defects after adjusting for other potential risk factors. The study population included 126,839 liveborn infants in the Department of Defense Birth and Infant Health Registry (2003-2010). Mothers were categorized by AVA vaccination exposure timing in relation to pregnancy. Infant medical records were assessed for birth defect diagnoses within the first year of life. Multivariable logistic regression was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs). Infants of first trimester AVA vaccinated mothers versus receipt at any other time point (OR, 1.10; 95% CI, 0.93-1.29) were not at higher odds of birth defects in adjusted models. Infants of mothers vaccinated prepregnancy versus postpregnancy had a 1.11 (95% CI, 1.01-1.22) higher odds of having a birth defect. Vaccination postpregnancy versus never vaccinated revealed a 10% lower odds of birth defects (OR, 0.90; 95% CI, 0.83-0.99). No strong associations between inadvertent AVA vaccination during pregnancy and birth defects risk were observed. Marginal associations between prepregnancy vaccination or never vaccinated women and birth defects risk was observed when compared to postpregnancy vaccination. These findings may be due to self-selection and/or reverse causation bias when assessing comparisons with postpregnancy vaccination, and a "healthy worker" effect when assessing comparisons with women never vaccinated. Copyright © 2017 Elsevier Ltd. All rights reserved.

Mouse Models for Investigating the Developmental Bases of Human Birth Defects

PubMed Central

MOON, ANNE M.

2006-01-01

Clinicians and basic scientists share an interest in discovering how genetic or environmental factors interact to perturb normal development and cause birth defects and human disease. Given the complexity of such interactions, it is not surprising that 4% of human infants are born with a congenital malformation, and cardiovascular defects occur in nearly 1%. Our research is based on the fundamental hypothesis that an understanding of normal and abnormal development will permit us to generate effective strategies for both prevention and treatment of human birth defects. Animal models are invaluable in these efforts because they allow one to interrogate the genetic, molecular and cellular events that distinguish normal from abnormal development. Several features of the mouse make it a particularly powerful experimental model: it is a mammalian system with similar embryology, anatomy and physiology to humans; genes, proteins and regulatory programs are largely conserved between human and mouse; and finally, gene targeting in murine embryonic stem cells has made the mouse genome amenable to sophisticated genetic manipulation currently unavailable in any other model organism. PMID:16641221

Baseline Prevalence of Birth Defects Associated with Congenital Zika Virus Infection - Massachusetts, North Carolina, and Atlanta, Georgia, 2013-2014.

PubMed

Cragan, Janet D; Mai, Cara T; Petersen, Emily E; Liberman, Rebecca F; Forestieri, Nina E; Stevens, Alissa C; Delaney, Augustina; Dawson, April L; Ellington, Sascha R; Shapiro-Mendoza, Carrie K; Dunn, Julie E; Higgins, Cathleen A; Meyer, Robert E; Williams, Tonya; Polen, Kara N D; Newsome, Kim; Reynolds, Megan; Isenburg, Jennifer; Gilboa, Suzanne M; Meaney-Delman, Dana M; Moore, Cynthia A; Boyle, Coleen A; Honein, Margaret A

2017-03-03

Zika virus infection during pregnancy can cause serious brain abnormalities, but the full range of adverse outcomes is unknown (1). To better understand the impact of birth defects resulting from Zika virus infection, the CDC surveillance case definition established in 2016 for birth defects potentially related to Zika virus infection* (2) was retrospectively applied to population-based birth defects surveillance data collected during 2013-2014 in three areas before the introduction of Zika virus (the pre-Zika years) into the World Health Organization's Region of the Americas (Americas) (3). These data, from Massachusetts (2013), North Carolina (2013), and Atlanta, Georgia (2013-2014), included 747 infants and fetuses with one or more of the birth defects meeting the case definition (pre-Zika prevalence = 2.86 per 1,000 live births). Brain abnormalities or microcephaly were the most frequently recorded (1.50 per 1,000), followed by neural tube defects and other early brain malformations † (0.88), eye abnormalities without mention of a brain abnormality (0.31), and other consequences of central nervous system (CNS) dysfunction without mention of brain or eye abnormalities (0.17). During January 15-September 22, 2016, the U.S. Zika Pregnancy Registry (USZPR) reported 26 infants and fetuses with these same defects among 442 completed pregnancies (58.8 per 1,000) born to mothers with laboratory evidence of possible Zika virus infection during pregnancy (2). Although the ascertainment methods differed, this finding was approximately 20 times higher than the proportion of one or more of the same birth defects among pregnancies during the pre-Zika years. These data demonstrate the importance of population-based surveillance for interpreting data about birth defects potentially related to Zika virus infection.

Birth defects among children born to HIV-infected women: Pediatric AIDS Clinical Trials Protocols 219 and 219C

PubMed Central

Brogly, Susan B.; Abzug, Mark J.; Watts, D. Heather; Cunningham, Coleen K.; Williams, Paige L.; Oleske, James; Conway, Daniel; Sperling, Rhoda S.; Spiegel, Hans; Van Dyke, Russell B.

2010-01-01

Background Some studies have detected associations between in utero antiretroviral therapy (ARV) exposure and birth defects but evidence is inconclusive. Methods 2,202 HIV-exposed children enrolled in the Pediatric AIDS Clinical Trials Group 219 and 219C protocols before one year of age were included. Birth defects were classified using the Metropolitan Atlanta Congenital Defects Program (MACDP) coding. Logistic regression models were used to evaluate associations between first trimester in utero ARV exposure and birth defects. Results 117 live-born children had birth defects for a prevalence of 5.3% (95% CI: 4.4, 6.3). Prevalence did not differ by HIV infection status or overall ARV exposure; rates were 4.8% (95% CI: 3.7, 6.1) and 5.8% (95% CI: 4.2, 7.8) in children without and with first trimester ARV exposure, respectively. The defect rate was higher among children with first trimester efavirenz exposure (5/32, 15.6%) versus children without first trimester efavirenz exposure [adjusted odds ratio (aOR)=4.31 (95% CI: 1.56, 11.86)]. Protective effects of first trimester zidovudine exposure on musculoskeletal defects were detected [aOR=0.24 (95% CI: 0.08, 0.69)], while a higher risk of heart defects was found [aOR=2.04 (95% CI: 1.03, 4.05)]. Conclusion The prevalence of birth defects was higher in this cohort of HIV-exposed children than in other pediatric cohorts. There was no association with overall ARV exposure, but there were some associations with specific agents including efavirenz. Additional studies are needed to rule out confounding and to evaluate newer ARV agents. PMID:20539252

Antithyroid Drug Use in Pregnancy and Birth Defects: Why Some Studies Find Clear Associations, and Some Studies Report None.

PubMed

Laurberg, Peter; Andersen, Stine Linding

2015-11-01

Rare cases of birth defects after the use of methimazole (MMI) or carbimazole to treat hyperthyroidism in early pregnancy have been reported since 1972, whereas propylthiouracil (PTU) has not been considered teratogenic. Recently, two studies reported birth defects after the use of MMI in early pregnancy to affect 2-4% of exposed children, and one study also found birth defects after the use of PTU. On the other hand, some published studies did not find associations between the use of thionamides and birth defects. The methods used in the two positive and the four negative reports are reviewed. The two positive studies included a sufficient number of children exposed to MMI (n = 1231 and 1097) to evaluate the studied outcomes, whereas the four negative studies included a much lower number of exposed children (n = 73, 108, 30, and 124). Considering PTU, the birth defects observed in one study were in general milder and tended to be diagnosed and registered only when they resulted in complications and led to surgery after one year of age. None of the negative studies has investigated outcomes after one year of age. Studies finding no associations between early pregnancy exposure to antithyroid drugs and birth defects were either not sufficiently powered or did not study outcomes at optimal ages.

What we don't know can hurt us: Nonresponse bias assessment in birth defects research.

PubMed

Strassle, Paula D; Cassell, Cynthia H; Shapira, Stuart K; Tinker, Sarah C; Meyer, Robert E; Grosse, Scott D

2015-07-01

Nonresponse bias assessment is an important and underutilized tool in survey research to assess potential bias due to incomplete participation. This study illustrates a nonresponse bias sensitivity assessment using a survey on perceived barriers to care for children with orofacial clefts in North Carolina. Children born in North Carolina between 2001 and 2004 with an orofacial cleft were eligible for inclusion. Vital statistics data, including maternal and child characteristics, were available on all eligible subjects. Missing 'responses' from nonparticipants were imputed using assumptions based on the distribution of responses, survey method (mail or phone), and participant maternal demographics. Overall, 245 of 475 subjects (51.6%) responded to either a mail or phone survey. Cost as a barrier to care was reported by 25.0% of participants. When stratified by survey type, 28.3% of mail respondents and 17.2% of phone respondents reported cost as a barrier. Under various assumptions, the bias-adjusted estimated prevalence of cost as barrier to care ranged from 16.1% to 30.0%. Maternal age, education, race, and marital status at time of birth were not associated with subjects reporting cost as a barrier. As survey response rates continue to decline, the importance of assessing the potential impact of nonresponse bias has become more critical. Birth defects research is particularly conducive to nonresponse bias analysis, especially when birth defect registries and birth certificate records are used. Future birth defect studies which use population-based surveillance data and have incomplete participation could benefit from this type of nonresponse bias assessment. Birth Defects Research (Part A) 103:603-609, 2015. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.

Risk factors for isolated biliary atresia, National Birth Defects Prevention Study, 1997-2002.

PubMed

The, Natalie S; Honein, Margaret A; Caton, Alissa R; Moore, Cynthia A; Siega-Riz, Anna Maria; Druschel, Charlotte M

2007-10-01

Biliary atresia is a rare birth defect that affects 1 in 12,000 to 1 in 19,500 live births. We used data from the National Birth Defects Prevention Study, a multistate case-control study, to identify potential risk factors for isolated biliary atresia (no additional unrelated major birth defects diagnosed). Infants were identified from eight states from 1997 to 2002, with clinical information abstracted from medical records. Potential risk factors assessed include: demographic factors, seasonality, preterm birth, maternal smoking, maternal alcohol use, maternal illicit drug use, maternal health, maternal medication use, maternal vitamin use, and maternal nutrition. Infants of non-Hispanic black mothers were more likely to have biliary atresia than infants of non-Hispanic white mothers (adjusted odds ratio (aOR) = 2.29, 95% confidence interval (CI) 1.07-4.93) and infants conceived during the spring season were more likely to have biliary atresia than infants conceived in winter (aOR = 2.33, 95%CI 1.05-5.16). Low intakes of vitamin E, copper, phosphorus, and beta tocopherol were associated with the occurrence of isolated biliary atresia (borderline significance). Low iron intake had a borderline inverse association with biliary atresia. While this analysis provides support for previous reports of a possible association between seasonal variation and the occurrence of biliary atresia, more data are needed to evaluate whether the seasonal variation is related to infectious agents. The role of nutrients in the development of biliary atresia remains unclear. Further studies of genetic, infectious, and nutrient exposures and the association of biliary atresia are warranted. 2007 Wiley-Liss, Inc

Birth defects, season of conception, and sex of children born to pesticide applicators living in the Red River Valley of Minnesota, USA.

PubMed Central

Garry, Vincent F; Harkins, Mary E; Erickson, Leanna L; Long-Simpson, Leslie K; Holland, Seth E; Burroughs, Barbara L

2002-01-01

We previously demonstrated that the frequency of birth defects among children of residents of the Red River Valley (RRV), Minnesota, USA, was significantly higher than in other major agricultural regions of the state during the years 1989-1991, with children born to male pesticide applicators having the highest risk. The present, smaller cross-sectional study of 695 families and 1,532 children, conducted during 1997-1998, provides a more detailed examination of reproductive health outcomes in farm families ascertained from parent-reported birth defects. In the present study, in the first year of life, the birth defect rate was 31.3 births per 1,000, with 83% of the total reported birth defects confirmed by medical records. Inclusion of children identified with birth or developmental disorders within the first 3 years of life and later led to a rate of 47.0 per 1,000 (72 children from 1,532 live births). Conceptions in spring resulted in significantly more children with birth defects than found in any other season (7.6 vs. 3.7%). Twelve families had more than one child with a birth defect (n = 28 children). Forty-two percent of the children from families with recurrent birth defects were conceived in spring, a significantly higher rate than that for any other season. Three families in the kinships defined contributed a first-degree relative other than a sibling with the same or similar birth defect, consistent with a Mendelian inheritance pattern. The remaining nine families did not follow a Mendelian inheritance pattern. The sex ratio of children with birth defects born to applicator families shows a male predominance (1.75 to 1) across specific pesticide class use and exposure categories exclusive of fungicides. In the fungicide exposure category, normal female births significantly exceed male births (1.25 to 1). Similarly, the proportion of male to female children with birth defects is significantly lower (0.57 to 1; p = 0.02). Adverse neurologic and

Associations Between Disinfection By-Product Exposures and Craniofacial Birth Defects.

PubMed

Kaufman, John A; Wright, J Michael; Evans, Amanda; Rivera-Núñez, Zorimar; Meyer, Amy; Narotsky, Michael G

2018-02-01

The aim of this study was to examine associations between craniofacial birth defects (CFDs) and disinfection by-product (DBP) exposures, including the sum of four trihalomethanes (THM4) and five haloacetic acids (HAA5) (ie, DBP9). We calculated first trimester adjusted odds ratios (aORs) for different DBPs in a matched case-control study of 366 CFD cases in Massachusetts towns with complete 1999 to 2004 THM and HAA data. We detected elevated aORs for cleft palate with DBP9 (highest quintile aOR = 3.52; 95% CI: 1.07, 11.60), HAA5, trichloroacetic acid (TCAA), and dichloroacetic acid. We detected elevated aORs for eye defects with TCAA and chloroform. This is the first epidemiological study of DBPs to examine eye and ear defects, as well as HAAs and CFDs. The associations for cleft palate and eye defects highlight the importance of examining specific defects and DBPs beyond THM4.

Birth defects related to bendectin use in pregnancy. I. Oral clefts and cardiac defects.

PubMed

Mitchell, A A; Rosenberg, L; Shapiro, S; Slone, D

1981-06-12

The risk of birth defects previously associated with Bendectin use in early pregnancy were evaluated in a case-control study of malformed infants whose mothers were interviewed in three regional centers; 98 infants with isolated cleft palate (CP), 221 with cleft lip with or without cleft palate (CL +/- CP), and 122 with selected heart defects (HD) were compared with 970 other malformed infants who served as controls. Relative risk estimates (with their 95% confidence limits) for first-trimester exposure to Bendectin were as follows: CP, 0.9 (0.5 to 1.5); CL +/- CP, 0.6 (0.4 to 0.8); and HD, 1.0 (0.6 to 1.6). Allowance for a large number of potentially confounding factors did not materially influence the risk estimates. These findings suggest that early in utero exposure to Bendectin does not appreciably increase the risk of oral clefts or selected cardiac defects.

Are residents of mountain-top mining counties more likely to have infants with birth defects? The West Virginia experience.

PubMed

Lamm, Steven H; Li, Ji; Robbins, Shayhan A; Dissen, Elisabeth; Chen, Rusan; Feinleib, Manning

2015-02-01

Pooled 1996 to 2003 birth certificate data for four central states in Appalachia indicated higher rates of infants with birth defects born to residents of counties with mountain-top mining (MTM) than born to residents of non-mining-counties (Ahern 2011). However, those analyses did not consider sources of uncertainty such as unbalanced distributions or quality of data. Quality issues have been a continuing problem with birth certificate analyses. We used 1990 to 2009 live birth certificate data for West Virginia to reassess this hypothesis. Forty-four hospitals contributed 98% of the MTM-county births and 95% of the non-mining-county births, of which six had more than 1000 births from both MTM and nonmining counties. Adjusted and stratified prevalence rate ratios (PRRs) were computed both by using Poisson regression and Mantel-Haenszel analysis. Unbalanced distribution of hospital births was observed by mining groups. The prevalence rate of infants with reported birth defects, higher in MTM-counties (0.021) than in non-mining-counties (0.015), yielded a significant crude PRR (cPRR = 1.43; 95% confidence interval [CI] = 1.36-1.52) but a nonsignificant hospital-adjusted PRR (adjPRR = 1.08; 95% CI = 0.97-1.20; p = 0.16) for the 44 hospitals. So did the six hospital data analysis ([cPRR = 2.39; 95% CI = 2.15-2.65] and [adjPRR = 1.01; 95% CI, 0.89-1.14; p = 0.87]). No increased risk of birth defects was observed for births from MTM-counties after adjustment for, or stratification by, hospital of birth. These results have consistently demonstrated that the reported association between birth defect rates and MTM coal mining was a consequence of data heterogeneity. The data do not demonstrate evidence of a "Mountain-top Mining" effect on the prevalence of infants with reported birth defects in WV. © 2014 Wiley Periodicals, Inc.

Mediation analysis of gestational age, congenital heart defects, and infant birth-weight.

PubMed

Wogu, Adane F; Loffredo, Christopher A; Bebu, Ionut; Luta, George

2014-12-17

In this study we assessed the mediation role of the gestational age on the effect of the infant's congenital heart defects (CHD) on birth-weight. We used secondary data from the Baltimore-Washington Infant Study (1981-1989). Mediation analysis was employed to investigate whether gestational age acted as a mediator of the association between CHD and reduced birth-weight. We estimated the mediated effect, the mediation proportion, and their corresponding 95% confidence intervals (CI) using several methods. There were 3362 CHD cases and 3564 controls in the dataset with mean birth-weight of 3071 (SD = 729) and 3353 (SD = 603) grams, respectively; the mean gestational age was 38.9 (SD = 2.7) and 39.6 (SD = 2.2) weeks, respectively. After adjusting for covariates, the estimated mediated effect by gestational age was 113.5 grams (95% CI, 92.4-134.2) and the mediation proportion was 40.7% (95% CI, 34.7%-46.6%), using the bootstrap approach. Gestational age may account for about 41% of the overall effect of heart defects on reduced infant birth-weight. Improved prenatal care and other public health efforts that promote full term delivery, particularly targeting high-risk families and mothers known to be carrying a fetus with CHD, may therefore be expected to improve the birth-weight of these infants and their long term health.

Assessing bottled water nitrate concentrations to evaluate total drinking water nitrate exposure and risk of birth defects.

PubMed

Weyer, Peter J; Brender, Jean D; Romitti, Paul A; Kantamneni, Jiji R; Crawford, David; Sharkey, Joseph R; Shinde, Mayura; Horel, Scott A; Vuong, Ann M; Langlois, Peter H

2014-12-01

Previous epidemiologic studies of maternal exposure to drinking water nitrate did not account for bottled water consumption. The objective of this National Birth Defects Prevention Study (NBDPS) (USA) analysis was to assess the impact of bottled water use on the relation between maternal exposure to drinking water nitrate and selected birth defects in infants born during 1997-2005. Prenatal residences of 1,410 mothers reporting exclusive bottled water use were geocoded and mapped; 326 bottled water samples were collected and analyzed using Environmental Protection Agency Method 300.0. Median bottled water nitrate concentrations were assigned by community; mothers' overall intake of nitrate in mg/day from drinking water was calculated. Odds ratios for neural tube defects, limb deficiencies, oral cleft defects, and heart defects were estimated using mixed-effects models for logistic regression. Odds ratios (95% CIs) for the highest exposure group in offspring of mothers reporting exclusive use of bottled water were: neural tube defects [1.42 (0.51, 3.99)], limb deficiencies [1.86 (0.51, 6.80)], oral clefts [1.43 (0.61, 3.31)], and heart defects [2.13, (0.87, 5.17)]. Bottled water nitrate had no appreciable impact on risk for birth defects in the NBDPS.

Assessing bottled water nitrate concentrations to evaluate total drinking water nitrate exposure and risk of birth defects

PubMed Central

Weyer, Peter J.; Brender, Jean D.; Romitti, Paul A.; Kantamneni, Jiji R.; Crawford, David; Sharkey, Joseph R.; Shinde, Mayura; Horel, Scott A.; Vuong, Ann M.; Langlois, Peter H.

2016-01-01

Previous epidemiologic studies of maternal exposure to drinking water nitrate did not account for bottled water consumption. The objective of this National Birth Defects Prevention Study (NBDPS) (USA) analysis was to assess the impact of bottled water use on the relation between maternal exposure to drinking water nitrate and selected birth defects in infants born during 1997–2005. Prenatal residences of 1,410 mothers reporting exclusive bottled water use were geocoded and mapped; 326 bottled water samples were collected and analyzed using Environmental Protection Agency Method 300.0. Median bottled water nitrate concentrations were assigned by community; mothers’ overall intake of nitrate in mg/day from drinking water was calculated. Odds ratios for neural tube defects, limb deficiencies, oral cleft defects, and heart defects were estimated using mixed-effects models for logistic regression. Odds ratios (95% CIs) for the highest exposure group in offspring of mothers reporting exclusive use of bottled water were: neural tube defects [1.42 (0.51, 3.99)], limb deficiencies [1.86 (0.51, 6.80)], oral clefts [1.43 (0.61, 3.31)], and heart defects [2.13, (0.87, 5.17)]. Bottled water nitrate had no appreciable impact on risk for birth defects in the NBDPS. PMID:25473985

Changes in detection of birth defects and perinatal mortality after introduction of prenatal ultrasound screening in the Kola Peninsula (North-West Russia): combination of two birth registries.

PubMed

Postoev, Vitaly A; Grjibovski, Andrej M; Nieboer, Evert; Odland, Jon Øyvind

2015-11-23

Prenatal diagnostics ultrasound was established in Russia in 2000 as a routine method of screening for birth defects. The aims of the current study were twofold: to assess changes in birth defects prevalence at birth and perinatal mortality after ultrasound screening was implemented and to estimate prenatal detection rates for congenital malformations in the city of Monchegorsk (Murmansk County, North-West Russia). The Murmansk County Birth Registry and the Kola Birth Registry were the primary sources of information, and include 30 448 pregnancy outcomes in Monchegorsk for the period 1973-2011. Data from these registries were supplemented with information derived from hospital records about pregnancy terminations for 2000-2007. The total number of newborns with any kind of birth defects in Monchegorsk during 1973-2011 was 1099, of whom 816 were born in the 1973-2000 period. The prevalence of defects at birth increased from 34.2/1000 (95% CI = 31.9-36.5) to 42.8/1000 newborns (95% CI = 38.0-47.7) after prenatal ultrasound screening was formally implemented. We observed significant decreases (p < 0.05) in the birth prevalence of congenital malformations of the circulatory system, the musculoskeletal system (including deformations), and other (excluding multiple); those of the urinary system increased from 0.9/1000 to 17.1/1000 (p < 0.0001). The perinatal mortality among newborns with any kind of malformation decreased from 106.6 per 1000 newborns with birth defects (95% CI = 84.3-129.1) to 21.2 (95 % CI = 4.3-38.1). Mothers who had undergone at least one ultrasound examination during pregnancy (n = 9883) had a decreased risk of having a newborn die during the perinatal period [adjusted OR = 0.49 (95% CI = 0.27-0.89)]. The overall prenatal detection rate was 34.9% with the highest for malformations of the nervous system. Improved detection of severe malformations with subsequent pregnancy termination was likely the main contributor

[Spatial distribution of birth defects among children aged 0 to 5 years and its relationship with soil chemical elements in Chongqing].

PubMed

Dong, Yan; Zhong, Zhao-hui; Li, Hong; Li, Jie; Wang, Ying-xiong; Peng, Bin; Zhang, Mao-zhong; Huang, Qiao; Yan, Ju; Xu, Fei-long

2013-10-01

To explore the correlation between the incidence of birth defects and the contents of soil elements so as to provide a scientific basis for screening the related pathogenic factors that inducing birth defects for the development of related preventive and control strategies. MapInfo 7.0 software was used to draw the maps on spatial distribution regarding the incidence rates of birth defects and the contents of 11 chemical elements in soil in the 33 studied areas. Variables on the two maps were superposed for analyzing the spatial correlation. SAS 8.0 software was used to analyze single factor, multi-factors and principal components as well as to comprehensively evaluate the degrees of relevance. Different incidence rates of birth defects showed in the maps of spatial distribution presented certain degrees of negative correlation with anomalies of soil chemical elements, including copper, chrome, iodine, selenium, zinc while positively correlated with the levels of lead. Results from the principal component regression equation indicating that the contents of copper(0.002), arsenic(-0.07), cadmium(0.05), chrome (-0.001), zinc (0.001), iodine(-0.03), lead (0.08), fluorine(-0.002)might serve as important factors that related to the prevalence of birth defects. Through the study on spatial distribution, we noticed that the incidence rates of birth defects were related to the contents of copper, chrome, iodine, selenium, zinc, lead in soil while the contents of chrome, iodine and lead might lead to the occurrence of birth defects.

Regional bias in birth defect prevalence rates for Arkansas: influence of incomplete ascertainment along surveillance system borders.

PubMed

Mosley, Bridget S; Simmons, Caroline J; Cleves, Mario A; Hobbs, Charlotte A

2002-01-01

As part of the continuing evaluation of the Arkansas Reproductive Health Monitoring System (ARHMS), we assessed the effects on birth defect prevalence rates introduced by incomplete case ascertainment along surveillance boundaries. Using data from ARHMS and Arkansas Vital Statistics for 1993-1998, we determined birth defect prevalence rates (per 10,000 live births), stratified by race, among three geographic comparison groups of counties. These included: (1) the Northeast Group, near the state border at Memphis, Tennessee; (2) the Central Group, surrounding Little Rock, Arkansas; and (3) the Southwest Group, near Texarkana, Texas. These counties have similar socioeconomic measures and proximity to health care facilities, but are differentiated by limitations imposed by ARHMS' surveillance borders. Maternal age-standardized rates from the control groups were used to impute expected rates, for the Northeast Group and statewide, which were compared with reported rates. We found that there were 620 fewer reported birth defect cases than expected for the Northeast Group. The Northeast Group's prevalence rates were approximately half of the control groups' rates (310.6 vs. 529.8, respectively, for Whites, and 240.8 vs. 550.1, respectively, for African-Americans). Incorporating the missed cases into statewide prevalence calculations could increase prevalence rates from 502.6 to 523.2 for Whites and from 527.4 to 590.7 for African-Americans. This study identified significant regional differences in reported birth defect rates in Arkansas. Case ascertainment might be incomplete in other surveillance systems lacking the means to share data with neighboring systems. Regional inaccuracy can hinder evaluation of localized birth defect trends or targeted prevention efforts. Copyright 2002 Wiley-Liss, Inc.

Birth Defects in Infants Born to Employees of a Microelectronics and Business Machine Manufacturing Facility

PubMed Central

Silver, Sharon R.; Pinkerton, Lynne E.; Rocheleau, Carissa M.; Deddens, James A.; Michalski, Adrian M.; Van Zutphen, Alissa R.

2017-01-01

Background Concerns about solvent releases from a microelectronics/business machine manufacturing facility in upstate New York led to interest in the health of former workers, including this investigation of birth defects in children of male and female employees. Methods Children born 1983 to 2001 to facility employees were enumerated and matched to New York State’s Congenital Malformations Registry. Reported structural birth defects were compared with numbers expected from state rates (excluding New York City), generating standardized prevalence ratios (SPRs). Exposure assessors classified employees as ever/never potentially exposed at the facility to metals, chlorinated hydrocarbons, and other hydrocarbons during windows critical to organogenesis (female workers) or spermatogenesis (male workers). Among workers, adjusted prevalence ratios were generated to evaluate associations between potential exposures and specific birth defects. Results External comparisons for structural defects were at expectation for infants of male workers (SPR = 1.01; 95% confidence interval [CI], 0.77–1.29; n = 60) and lower for births to female workers (SPR = 0.84; 95% CI, 0.50–1.33; n = 18). Among full-term infants of male workers, ventricular septal defects (VSDs) were somewhat elevated compared with the general population (SPR = 1.58; 95% CI, 0.99–2.39; n = 22). Within the cohort, potential paternal metal exposure was associated with increased VSD risk (adjusted prevalence ratio = 2.70; 95% CI, = 1.09–6.67; n = 7). Conclusion While overall SPRs were near expectation, paternal exposure to metals (primarily lead) appeared to be associated with increased VSD risk in infants. Take-home of occupational exposures, nonoccupational exposures, and chance could not be ruled out as causes. Case numbers for many defects were small, limiting assessment of the role of occupational exposures. PMID:27224896

Birth defects in infants born in 1998-2004 to men and women serving in the U.S. military during the 1990-1991 Gulf War era.

PubMed

Bukowinski, Anna T; DeScisciolo, Connie; Conlin, Ava Marie S; K Ryan, Margaret A; Sevick, Carter J; Smith, Tyler C

2012-09-01

Concerns about reproductive health persist among U.S. military members who served in the 1990-1991 Gulf War. This study explores the long-term impact of 1990-1991 Gulf War deployment on the prevalence of birth defects among infants of Gulf War veterans. Health care data from the Department of Defense Birth and Infant Health Registry and demographic and deployment information from the Defense Manpower Data Center were used to identify infants born between 1998 and 2004 to both male and female 1990-1991 Gulf War veterans. Multivariable logistic regression models estimated the adjusted odds of any birth defect and eight specific birth defects among infants of deployers versus non-deployers. In addition, birth defects were evaluated among infants born to 1990-1991 Gulf War veterans with deployment-specific exposures. Among 178,766 infants identified for these analyses, 3.4% were diagnosed with a birth defect in the first year of life. Compared to infants of non-deployers, infants of deployers were not at increased odds of being diagnosed with a birth defect, or any of eight specific birth defects, in the first year of life. A slightly increased prevalence of birth defects was observed among infants born to men who deployed to the 1990-1991 Gulf War for 153 to 200 days compared to those who deployed for 1 to 92 days. No other deployment-specific exposures were associated with birth defects in these infants. The 1990-1991 Gulf War deployers, including those with specific exposures of concern, were not found to be at increased risk for having infants with birth defects 7 to 14 years after deployment. Published 2012 Wiley Periodicals, Inc.

Cancer and birth defects surveillance system for communities around the Savannah River Site: Phase 2 -- Birth defects. Technical progress report, year 01

DOE Office of Scientific and Technical Information (OSTI.GOV)

Dunbar, J.B.

The Savannah River Region Health Information System Birth Defects Registry (SRRHIS-BDR) began on September 30, 1994. As with the SRRHIS Cancer Registry, surveillance of the 12 Georgia counties was subcontracted to Emory University School of Public Health. Collaborative efforts between the Medical University of South Carolina (MUSC) and Emory University staffs have been characterized by warm relationships and commitment to developing a state of the art registry. As a result of early planning efforts, the authors were able to actually activate the data collection. As of the end of September 1995, partial data from the 1994 birth cohort and up-to-datemore » data for the 1995 birth cohort had been collected on the South Carolina side. The Georgia Staff started later and have not yet caught up to the 1994 level. South Carolina was able to start earlier because they were fortunate to quickly recruit an abstractor. Also, by the end of the first year, an innovative automated data entry system for laptop computers was developed by the computer staff to facilitate and improve data collection.« less

Birth outcomes of cases with isolated atrial septal defect type II--a population-based case-control study.

PubMed

Vereczkey, Attila; Kósa, Zsolt; Csáky-Szunyogh, Melinda; Urbán, Róbert; Czeizel, Andrew E

2013-07-01

In general, epidemiological studies have evaluated cases with congenital cardiovascular abnormalities together. The aim of this study is to describe the birth outcomes of cases with isolated/single atrial septal defect type II (ASD-II, i.e. only a fossa ovalis defect) after surgical correction or lethal outcome in the light of maternal sociodemographic data. Comparison of birth outcomes and maternal characteristics of cases with ASD-II and controls without defect. The population-based Hungarian Case-Control Surveillance of Congenital Abnormalities. Hungarian newborn infants with or without ASD-II. Medically recorded birth outcomes, maternal age and birth order were evaluated. Marital and employment status was based on maternal information. The lifestyle factors were analyzed in a subsample of mothers visited at home based on a personal interview with mothers and their close relatives, and the family consensus was accepted. Mean gestational age at delivery and birthweight, rate of preterm birth and low birthweight, maternal age, birth order, marital and employment status. The evaluation of 471 cases with ASD-II and 38,151 controls without any defects showed a female excess in cases with ASD-II, having shorter gestational age and lower mean birthweight, and thus a higher rate of preterm births and low birthweight. Intrauterine growth restriction and shorter gestational age were found in cases with ASD-II, particularly in female children. These factors may have a general developmental process in which there was not closure of the foramen ovale, thus echocardiographic screening of these babies might be of value. © 2012 The Authors Acta Obstetricia et Gynecologica Scandinavica © 2012 Nordic Federation of Societies of Obstetrics and Gynecology.

Medications Used to Treat Nausea and Vomiting of Pregnancy and the Risk of Selected Birth Defects

PubMed Central

Anderka, Marlene; Mitchell, Allen A.; Louik, Carol; Werler, Martha M.; Hernández-Diaz, Sonia; Rasmussen, Sonja A.

2012-01-01

Background Nausea and vomiting of pregnancy (NVP) occurs in up to 80% of pregnant women, yet its association with birth outcomes is not clear. Several medications are used for the treatment of NVP; however, data are limited on their possible associations with birth defects. Methods Using data from the National Birth Defects Prevention Study (NBDPS), a multi-site population-based case-control study, we examined whether NVP or its treatment was associated with the most common non-cardiac defects in the NBDPS (non-syndromic cleft lip with or without cleft palate (CL/P), cleft palate alone (CP), neural tube defects (NTDs), and hypospadias) compared to randomly-selected non-malformed live births. Results Among the 4524 cases and 5859 controls included in this study, 67.1% reported first trimester NVP, and 15.4% of them reported using at least one agent for NVP. Nausea and vomiting of pregnancy was not associated with CP or NTDs, but modest risk reductions were observed for CL/P (aOR=0.87, 0.77–0.98), and hypospadias (OR=0.84, 0.72–0.98). In regards to treatments for NVP in the first trimester, the following adjusted associations were observed with an increased risk: proton pump inhibitors and hypospadias (aOR=4.36, 1.21–15.81), steroids and hypospadias (aOR=2.87, 1.03–7.97), and ondansetron and CP (aOR=2.37, 1.18–4.76), while antacids were associated with a reduced risk for CL/P (aOR=0.58, 0.38–0.89). Conclusions Nausea and vomiting of pregnancy was not observed to be associated with an increased risk of birth defects, but possible risks related to three treatments (i.e. proton pump inhibitors, steroids and ondansetron), which could be chance findings, warrant further investigation. PMID:22102545

Facial transplantation for massive traumatic injuries.

PubMed

Alam, Daniel S; Chi, John J

2013-10-01

This article describes the challenges of facial reconstruction and the role of facial transplantation in certain facial defects and injuries. This information is of value to surgeons assessing facial injuries with massive soft tissue loss or injury. Copyright © 2013 Elsevier Inc. All rights reserved.

The reconstruction of male hair-bearing facial regions.

PubMed

Ridgway, Emily B; Pribaz, Julian J

2011-01-01

Loss of hair-bearing regions of the face caused by trauma, tumor resection, or burn presents a difficult reconstructive task for plastic surgeons. The ideal tissue substitute should have the same characteristics as the facial area affected, consisting of thin, pliable tissue with a similar color match and hair-bearing quality. This is a retrospective study of 34 male patients who underwent reconstruction of hair-bearing facial regions performed by the senior author (J.J.P.). Local and pedicled flaps were used primarily to reconstruct defects after tumor extirpation, trauma, infections, and burns. Two patients had irradiation before reconstruction. Two patients had prior facial reconstruction with free flaps. The authors found that certain techniques of reconstructing defects in hair-bearing facial regions were more successful than others in particular facial regions and in different sizes of defects. The authors were able to develop a simple algorithm for management of facial defects involving the hair-bearing regions of the eyebrow, sideburn, beard, and mustache that may prospectively aid the planning of reconstructive strategy in these cases.

The effects of opt-out legislation on data collection and surveillance of birth defects by the New Hampshire Birth Conditions Program, New Hampshire, United States, 2007-2009.

PubMed

Gill, Simerpal; Miller, Stephanie; Broussard, Cheryl; Reefhuis, Jennita

2012-01-01

The New Hampshire Birth Conditions Program (NHBCP) is a population-based, active case ascertainment surveillance system that monitors the occurrence of 45 birth defects across the state. A 2008 law requires a new opt-out procedure whereby legal guardians can choose whether or not to have identifiable information retained in the NHBCP database. The purpose of this study was to determine the effects of implementing this opt-out legislation on data collection and surveillance of birth defects by the NHBCP. Using surveillance data collected following implementation of the opt out legislation for the period January 1, 2007, through December 31, 2009, 2 opt-out groups were created: the identifiable information retained (IIR) group, consisting of families who did not choose to opt out, and the de-identified information retained group (DIIR), consisting of those who either chose to opt out or were treated as opt-out birth defect cases because their opt-out package was undeliverable. Descriptive statistics were calculated for each group, and chi-square or Fisher's exact tests were used to compare the proportion of select sociodemographic and medical characteristics between the 2 opt-out groups. Of 776 infants, 120 (15.5%) fell into the DIIR group. Differences were observed by race/ethnicity (among non-Hispanic whites, 15% were in the DIIR group and among Hispanics, 33% were in the DIIR group; p=0.01) and by maternal age (among women 30-34 years of age, 11% were in the DIIR group, and among those 25 years of age or younger, 22% were in the DIIR group; p=0.05). Birth outcomes, payer source, county of residence, and common birth defect diagnoses did not differ between the opt-out groups. This study demonstrated that there were significant differences in race/ethnicity and maternal age between parents who had de-identified information included in the NHBCP compared with those who did not choose to opt out. Although the surveillance of birth defects is not affected, the

Traffic-Related Air Pollution and Selected Birth Defects in the San Joaquin Valley of California

PubMed Central

Padula, Amy M.; Tager, Ira B.; Carmichael, Suzan L.; Hammond, S. Katharine; Yang, Wei; Lurmann, Frederick W.; Shaw, Gary M.

2014-01-01

BACKGROUND Birth defects are a leading cause of infant morbidity and mortality. Studies suggest associations between environmental contaminants and some structural anomalies, although evidence is limited and several anomalies have not been investigated previously. METHODS We used data from the California Center of the National Birth Defects Prevention Study and the Children's Health and Air Pollution Study to estimate the odds of 26 congenital birth defect phenotypes with respect to quartiles of seven ambient air pollutant and traffic exposures in California during the first 2 months of pregnancy, 1997 to 2006 (874 cases and 849 controls). We calculated odds ratios (adjusted for maternal race/ethnicity, education, and vitamin use; aOR) for 11 phenotypes that had at least 40 cases. RESULTS Few odds ratios had confidence intervals that did not include 1.0. Odds of esophageal atresia were increased for the highest versus lowest of traffic density (aOR = 2.8, 95% confidence interval [CI], 1.1–7.4) and PM10 exposure (aOR 4.9; 95% CI, 1.4–17.2). PM10 was associated with a decreased risk of hydrocephaly (aOR= 0.3; 95% CI, 0.1–0.9) and CO with decreased risk of anotia/microtia (aOR = 0.4; 95% CI, 0.2–0.8) and transverse limb deficiency (aOR = 0.4; 95% CI, 0.2–0.9), again reflecting highest versus lowest quartile comparisons. CONCLUSION Most analyses showed no substantive association between air pollution and the selected birth defects with few exceptions of mixed results. PMID:24108522

Traffic-related air pollution and selected birth defects in the San Joaquin Valley of California.

PubMed

Padula, Amy M; Tager, Ira B; Carmichael, Suzan L; Hammond, S Katharine; Yang, Wei; Lurmann, Frederick W; Shaw, Gary M

2013-11-01

Birth defects are a leading cause of infant morbidity and mortality. Studies suggest associations between environmental contaminants and some structural anomalies, although evidence is limited and several anomalies have not been investigated previously. We used data from the California Center of the National Birth Defects Prevention Study and the Children's Health and Air Pollution Study to estimate the odds of 26 congenital birth defect phenotypes with respect to quartiles of seven ambient air pollutant and traffic exposures in California during the first 2 months of pregnancy, 1997 to 2006 (874 cases and 849 controls). We calculated odds ratios (adjusted for maternal race/ethnicity, education, and vitamin use; aOR) for 11 phenotypes that had at least 40 cases. Few odds ratios had confidence intervals that did not include 1.0. Odds of esophageal atresia were increased for the highest versus lowest of traffic density (aOR = 2.8, 95% confidence interval [CI], 1.1-7.4) and PM10 exposure (aOR 4.9; 95% CI, 1.4-17.2). PM₁₀ was associated with a decreased risk of hydrocephaly (aOR= 0.3; 95% CI, 0.1-0.9) and CO with decreased risk of anotia/microtia (aOR = 0.4; 95% CI, 0.2-0.8) and transverse limb deficiency (aOR = 0.4; 95% CI, 0.2-0.9), again reflecting highest versus lowest quartile comparisons. Most analyses showed no substantive association between air pollution and the selected birth defects with few exceptions of mixed results. Copyright © 2013 Wiley Periodicals, Inc.

Modeling travel impedance to medical care for children with birth defects using Geographic Information Systems.

PubMed

Delmelle, Eric M; Cassell, Cynthia H; Dony, Coline; Radcliff, Elizabeth; Tanner, Jean Paul; Siffel, Csaba; Kirby, Russell S

2013-10-01

Children with birth defects may face significant geographic barriers accessing medical care and specialized services. Using a Geographic Information Systems-based approach, one-way travel time and distance to access medical care for children born with spina bifida was estimated. Using 2007 road information from the Florida Department of Transportation, we built a topological network of Florida roads. Live-born Florida infants with spina bifida during 1998 to 2007 were identified by the Florida Birth Defects Registry and linked to hospital discharge records. Maternal residence at delivery and hospitalization locations were identified during the first year of life. Of 668 infants with spina bifida, 8.1% (n = 54) could not be linked to inpatient data, resulting in 614 infants. Of those 614 infants, 99.7% (n = 612) of the maternal residential addresses at delivery were successfully geocoded. Infants with spina bifida living in rural areas in Florida experienced travel times almost twice as high compared with those living in urban areas. When aggregated at county levels, one-way network travel times exhibited statistically significant spatial autocorrelation, indicating that families living in some clusters of counties experienced substantially greater travel times compared with families living in other areas of Florida. This analysis demonstrates the usefulness of linking birth defects registry and hospital discharge data to examine geographic differences in access to medical care. Geographic Information Systems methods are important in evaluating accessibility and geographic barriers to care and could be used among children with special health care needs, including children with birth defects. Copyright © 2013 Wiley Periodicals, Inc.

RELATIONAHIP BETWEEN AMBIENT AIR QUALITY AND SELECTED BIRTH DEFECTS, SEVEN COUNTY STUDY, TEXAS, 1997-2000

EPA Science Inventory

A population-based case-control study investigated the association between maternal exposure to criteria air pollutants, CO, NO2, O3, SO2, and PM10 during weeks three through eight of pregnancy, and the risk of selected cardiac birth defects and oral clefts among live births and ...

Birth outcomes of cases with conotruncal defects of heart - a population-based case-control study.

PubMed

Vereczkey, Attila; Kósa, Zsolt; Csáky-Szunyogh, Melinda; Gerencsér, Balázs; Czeizel, Andrew E

2015-03-01

The aim of this study was to evaluate the birth outcomes of cases with four types of conotruncal defects (CTDs), i.e. common truncus, transposition of great arteries, tetralogy of Fallot and double-outlet right ventricle. Birth outcomes of 597 live-born cases with CTD and 38,151 population controls without any defects were compared in the population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities completed by socio-demographic variables of their mothers. There was a male excess in cases with CTD (56.8%) with the same mean gestational age (39.4 versus 39.4 weeks) and preterm birth rate (8.2 versus 9.2%), but their mean birth weight was smaller (3077 versus 3276 g) with a high rate of low birthweight (14.6 versus 5.7%) compared to the birth outcomes of population controls. These data indicate intrauterine growth restriction of fetuses affected with transposition of great arteries, tetralogy of Fallot and double-outlet right ventricle particularly in females, while there were a shorter mean gestational age and smaller mean birth weigh in cases with common truncus. In general CTD, except common truncus, had no effect for gestational age but associated with a high risk for intrauterine fetal growth restriction particularly in female cases.

Agricultural chemical exposures and birth defects in the Eastern Cape Province, South Africa A case – control study

PubMed Central

Heeren, Gudrun A; Tyler, Joanne; Mandeya, Andrew

2003-01-01

Background South Africa is one of the major users of pesticides on the African continent. The Eastern Cape is the second largest province in South Africa. There has been growing concern about the occurrence of certain birth defects which seemed to have increased in the past few years. In this paper we investigate associations between exposure to agricultural chemicals and certain birth defects. Few such studies have been undertaken in the developing world previously. Methods Between September 2000 and March 2001 a case – control study was conducted among rural women in the area of the Eastern cape to investigate the association between women's exposure to pesticides and the occurrence of birth defects. Information on birth defects was obtained from the register of the Paediatrics Department at the Cecilia Makiwane Hospital in Mdantsane, one of the largest referral hospitals in the province. The cases were children who were diagnosed with selected birth defects. The controls were children born in the same areas as the cases. Exposure information on the mothers was obtained by interview concerning from their activities in gardens and fields. Data were analysed using conditional logistic regression. Results A total of 89 case mothers and 178 control mothers was interviewed. Babies with birth defects were seven times more likely to be born to women exposed to chemicals used in gardens and fields compared to no reported exposure (Odds Ratio 7.18, 95% CI 3.99, 13.25); and were almost twice as likely to be born to women who were involved in dipping livestock used to prevent ticks (OR 1.92, 95% CI 1.15, 3.14). They were also 6.5 times more likely to be born to women who were using plastic containers for fetching water (OR 6.5, 95% CI 2.2, 27.9). Some of these containers had previously contained pesticides (OR 1.87, 95% CI 1.06, 3.31). Conclusions These findings suggest a link between exposure to pesticides and certain birth defects among the children of rural South

Maternal Antihypertensive Medication Use and Congenital Heart Defects: Updated Results From the National Birth Defects Prevention Study.

PubMed

Fisher, Sarah C; Van Zutphen, Alissa R; Werler, Martha M; Lin, Angela E; Romitti, Paul A; Druschel, Charlotte M; Browne, Marilyn L

2017-05-01

Previous NBDPS (National Birth Defects Prevention Study) findings from 1997 to 2003 suggested that maternal antihypertensive use was associated with congenital heart defects (CHDs). We re-examined associations between specific antihypertensive medication classes and specific CHDs with additional NBDPS data from 2004 to 2011. After excluding mothers missing hypertension information or who reported pregestational diabetes mellitus, a multiple birth, or antihypertensive use but no hypertension, we compared self-reported maternal exposure data on 10 625 CHD cases and 11 137 nonmalformed controls. We calculated adjusted odds ratios [95% confidence intervals] to estimate the risk of specific CHDs associated with antihypertensive use during the month before conception through the third month of pregnancy, controlling for maternal age, race/ethnicity, body mass index, first trimester cigarette smoking, and NBDPS site. Overall, 164 (1.5%) case mothers and 102 (0.9%) control mothers reported early pregnancy antihypertensive use for their hypertension. We observed increased risk of 4 CHD phenotypes, regardless of antihypertensive medication class reported: coarctation of the aorta (2.50 [1.52-4.11]), pulmonary valve stenosis (2.19 [1.44-3.34]), perimembranous ventricular septal defect (1.90 [1.09-3.31]), and secundum atrial septal defect (1.94 [1.36-2.79]). The associations for these phenotypes were statistically significant for mothers who reported β-blocker use or renin-angiotensin system blocker use; estimates for other antihypertensive medication classes were generally based on fewer exposed cases and were less stable but remained elevated. Our results support and expand on earlier NBDPS findings that antihypertensive medication use may be associated with increased risk of specific CHDs, although we cannot completely rule out confounding by underlying disease characteristics. © 2017 American Heart Association, Inc.

Birth Defects

MedlinePlus

... from the 2013 period: Linked birth/infant death data set. National Vital Statistics Reports , 64(9), 1–30. Retrieved July 26, 2017, from https://www.cdc.gov/nchs/data/nvsr/nvsr64/nvsr64_09.pdf (PDF - 993 KB) ...

Factors affecting maternal participation in the genetic component of the National Birth Defects Prevention Study-United States, 1997-2007.

PubMed

Glidewell, Jill; Reefhuis, Jennita; Rasmussen, Sonja A; Woomert, Alison; Hobbs, Charlotte; Romitti, Paul A; Crider, Krista S

2014-04-01

As epidemiological studies expand to examine gene-environment interaction effects, it is important to identify factors associated with participation in genetic studies. The National Birth Defects Prevention Study is a multisite case-control study designed to investigate environmental and genetic risk factors for major birth defects. The National Birth Defects Prevention Study includes maternal telephone interviews and mailed buccal cell self-collection kits. Because subjects can participate in the interview, independent of buccal cell collection, detailed analysis of factors associated with participation in buccal cell collection was possible. Multivariable logistic regression models were used to identify the factors associated with participation in the genetic component of the study. Buccal cell participation rates varied by race/ethnicity (non-Hispanic whites, 66.9%; Hispanics, 60.4%; and non-Hispanic blacks, 47.3%) and study site (50.2-74.2%). Additional monetary incentive following return of buccal cell kit and shorter interval between infant's estimated date of delivery and interview were associated with increased participation across all racial/ethnic groups. Higher education and delivering an infant with a birth defect were associated with increased participation among non-Hispanic whites and Hispanics. Factors associated with participation varied by race/ethnicity. Improved understanding of factors associated with participation may facilitate strategies to increase participation, thereby improving generalizability of study findings.

Incidence of facial clefts in Cambridge, United Kingdom.

PubMed

Bister, Dirk; Set, Patricia; Cash, Charlotte; Coleman, Nicholas; Fanshawe, Thomas

2011-08-01

The aim of this study was to determine the incidence of facial clefting in Cambridge, UK, using multiple resources of ascertainment and to relate the findings to antenatal ultrasound screening (AUS) detection rates. AUS records from an obstetric ultrasound department, post-natal records from the regional craniofacial unit, and autopsy reports of foetuses over 16 weeks' gestational age from a regional pathology department from 1993 to 1997 were retrospectively reviewed. Cross-referencing between the three data sets identified all cases of facial clefts. Of 23,577 live and stillbirths, 30 had facial clefts. AUS detected 17 of these. Sixteen of the 30 had isolated facial clefts. Others had associated anomalies, chromosomal defects, or syndromes. Percentages and confidence intervals were calculated from the above data. Twenty-one resulted in live births, seven terminations, and two foetal deaths. Overall, detection rate by AUS was 65 percent [67 percent isolated cleft lip, 93 per cent cleft lip and palate (CLP), and 22 percent isolated cleft palate], with no false positives. The incidence of facial clefts was 0.127 percent (95 percent confidence interval 0.089-0.182 percent); the incidence for isolated CLP was lower than previously reported: 0.067 percent (0.042-0.110 percent). With one exception, all terminations were in foetuses with multiple anomalies. The figures presented will enable joint CLP clinics to give parents information of termination rates. The study allows pre-pregnancy counselling of families previously affected by clefting about the reliability of AUS detection rates.

Maternal occupational exposure to polycyclic aromatic hydrocarbons and congenital heart defects among offspring in the national birth defects prevention study.

PubMed

Lupo, Philip J; Symanski, Elaine; Langlois, Peter H; Lawson, Christina C; Malik, Sadia; Gilboa, Suzanne M; Lee, Laura J; Agopian, A J; Desrosiers, Tania A; Waters, Martha A; Romitti, Paul A; Correa, Adolfo; Shaw, Gary M; Mitchell, Laura E

2012-11-01

There is evidence in experimental model systems that exposure to polycyclic aromatic hydrocarbons (PAHs) results in congenital heart defects (CHDs); however, to our knowledge, this relationship has not been examined in humans. Therefore, we conducted a case-control study assessing the association between estimated maternal occupational exposure to PAHs and CHDs in offspring. Data on CHD cases and control infants were obtained from the National Birth Defects Prevention Study for the period of 1997 to 2002. Exposure to PAHs was assigned by industrial hygienist consensus, based on self-reported maternal occupational histories from 1 month before conception through the third month of pregnancy. Logistic regression was used to evaluate the association between maternal occupational PAH exposure and specific CHD phenotypic subtypes among offspring. The prevalence of occupational PAH exposure was 4.0% in CHD case mothers (76/1907) and 3.6% in control mothers (104/2853). After adjusting for maternal age, race or ethnicity, education, smoking, folic acid supplementation, and study center, exposure was not associated with conotruncal defects (adjusted odds ratio [AOR], 0.98; 95% confidence interval [CI], 0.58-1.67), septal defects (AOR, 1.28; 95% CI, 0.86-1.90), or with any isolated CHD subtype. Our findings do not support an association between potential maternal occupational exposure to PAHs and various CHDs in a large, population-based study. For CHD phenotypic subtypes in which modest nonsignificant associations were observed, future investigations could be improved by studying populations with a higher prevalence of PAH exposure and by incorporating information on maternal and fetal genotypes related to PAH metabolism. Birth Defects Research (Part A), 2012. Copyright © 2012 Wiley Periodicals, Inc.

Proceedings of the Conference on Birth Defects for Educators (May 4, 1978).

ERIC Educational Resources Information Center

Davidson, Michael S., Ed.; Davidson, Mary W., Ed.

Six papers from a 1978 conference on birth defects focus on prevention. G. Stickle ("The Health of America's Babies: How Do We Stack Up?'" reviews risk in pregnancy, cites inadequate prenatal care and maternal nutrition, and discusses examples of how the United States is not applying its knowledge of how to improve pregnancy outcome. In "Genetic…

Novel magnet-retained prosthetic system for facial reconstruction.

PubMed

Ahmed, Mostafa M; Piper, James M; Hansen, Nancy A; Sutton, Alan J; Schmalbach, Cecelia E

2014-01-01

Traumatic facial defects negatively impact speech, mastication, deglutition, dental hygiene, and psychosocial well-being. Reconstruction must address restoration of function and aesthetics to provide quality of life. This report describes soft-tissue reconstruction using a novel magnet-retained facial prosthesis without osseointegrated abutments, performed in a patient after traumatic loss of the entire left lower part of the face, including lips, commissure, and mentum. This reconstructive technique successfully addressed the cosmetic defect while also restoring function with respect to speech and oral nutrition. For this reason, magnet-retained facial prosthesis should be added to free tissue transfer and regional flaps as a reasonable option in the reconstructive algorithm for complex soft-tissue defects of the lower face.

Overview of Epidemiology, Genetics, Birth Defects, and Chromosome Abnormalities Associated With CDH

PubMed Central

Pober, Barbara R.

2010-01-01

Congenital diaphragmatic hernia (CDH) is a common and well-studied birth defect. The etiology of most cases remains unknown but increasing evidence points to genetic causation. The data supporting genetic etiologies which are detailed below include the association of CDH with recurring chromosome abnormalities, the existence of CDH-multiplex families, and the co-occurrence of CDH with additional congenital malformations. PMID:17436298

Birth defects risk associated with maternal sport fish consumption: potential effect modification by sex of offspring.

PubMed

Mendola, Pauline; Robinson, Luther K; Buck, Germaine M; Druschel, Charlotte M; Fitzgerald, Edward F; Sever, Lowell E; Vena, John E

2005-02-01

Contaminated sport fish consumption may result in exposure to various reproductive and developmental toxicants, including pesticides and other suspected endocrine disruptors. We investigated the relation between maternal sport fish meals and risk of major birth defects among infants born to members of the New York State (NYS) Angler Cohort between 1986 and 1991 (n=2237 births). Birth defects (n=125 cases) were ascertained from both newborn medical records and the NYS Congenital Malformations Registry. For sport fish meals eaten during pregnancy, the odds ratio (OR) for all major malformations combined was slightly elevated for < or =1 meal/month (OR=1.26, 95% confidence interval (CI): 0.84, 1.89) and > or =2 meals/month (OR=1.51, CI=0.74, 3.09), with no meals during pregnancy as the reference category. Higher ORs were consistently observed among male offspring compared with females. For > or =2 meals/month, the risk for males was significantly elevated (males: OR=3.01, CI: 1.2, 7.5; females: OR=0.73, CI: 0.2, 2.4). Exposure during pregnancy and effect modification by infants sex could be important considerations for future studies of birth outcomes associated with endocrine disruptors.

Reverse-flow retroauricular island flap in facial reconstruction.

PubMed

Benlier, Erol; Top, Husamettin; Cinar, Can; Yazar, Sukru; Aygit, A Cemal; Cetinkale, Oguz

2007-12-01

Reconstruction of facial skin defects requires good-quality skin cover to satisfy aesthetic expectations of patient, especially when the skin defect is on the uncovered area of the face. Limitations in the available local tissue and donor-site morbidity restrict the options. In an effort to solve these problems, we have begun to use a subcutaneous pedicled retroauricular reverse-flow flap. Between January 1997 and December 2005, reverse-flow subcutaneous pedicled retroauricular island flap was used to cover facial defects in 12 patients who underwent surgical excision of skin tumor. The patients ranged in age from 44 to 81 years with a mean age of 58 years. Only one case experienced a superficial necrosis in the distal one-quarter part of the flap. The functional and aesthetic results were satisfactory for both patients and surgeons, and no tumor recurrence was observed during the 12 to 28 months (mean, 18.8 months) follow-up period. This flap can be used reliably for the reconstruction of facial skin defects of small and medium size. The preference of frontal branch pedicled flap enables more distal facial area defects to be covered, such as dorsal nasal, nasolabial, and upper lip, than flaps based on parietal branch.

Classification of Computer-Aided Design-Computer-Aided Manufacturing Applications for the Reconstruction of Cranio-Maxillo-Facial Defects.

PubMed

Wauters, Lauri D J; Miguel-Moragas, Joan San; Mommaerts, Maurice Y

2015-11-01

To gain insight into the methodology of different computer-aided design-computer-aided manufacturing (CAD-CAM) applications for the reconstruction of cranio-maxillo-facial (CMF) defects. We reviewed and analyzed the available literature pertaining to CAD-CAM for use in CMF reconstruction. We proposed a classification system of the techniques of implant and cutting, drilling, and/or guiding template design and manufacturing. The system consisted of 4 classes (I-IV). These classes combine techniques used for both the implant and template to most accurately describe the methodology used. Our classification system can be widely applied. It should facilitate communication and immediate understanding of the methodology of CAD-CAM applications for the reconstruction of CMF defects.

A new design of facial artery perforator flaps for the reconstruction of small- to medium-sized intraoral defects.

PubMed

Du, Yi-fei; Zhou, Wei-na; Li, Jie; Jiang, Hong-bing; Yuan, Hua; Wan, Lin-zhong

2014-11-01

The aim of this study was to investigate the reliability and outcomes of a new design of facial artery perforator flaps, extending from the angle of the mouth to the border of the mandible, for the reconstruction of small- to medium-sized intraoral defects. The technique had been used in 23 patients between February 2009 and August 2012. The locations of intraoral defects included the tongue, the floor of the mouth, the inferior gingival mucosa, and the sublingual gland. All flaps were monitored for complications including skin loss and ischemia. The functions of appearance, swallowing, and speech were assessed 6 months after operation with the University of Washington Quality of Life Questionnaire. All flaps presented with satisfactory results except for one, which demonstrated superficial tip necrosis that settled after conservative treatment. The follow-up period ranged from 6 to 12 months, and 1 patient died as a result of pulmonary metastasis, and 3 patients underwent second surgery because of local tumor recurrence (2patients) and cervical recurrence (1 patient). Nineteen patients were assessed with the University of Washington Quality of Life Questionnaire, and the mean (SD) scores of appearance, swallowing, and speech were 57.89 (14.45), 83.68 (19.98), and 81.58 (23.16), respectively. This design of facial artery perforator flaps could provide an efficient and cost-effective method for reconstruction of small- to medium-sized intraoral defects with a low surgical morbidity and satisfactory levels of quality of life.

Repair of facial nerve defects with decellularized artery allografts containing autologous adipose-derived stem cells in a rat model.

PubMed

Sun, Fei; Zhou, Ke; Mi, Wen-Juan; Qiu, Jian-Hua

2011-07-20

The purpose of this study was to investigate the effects of a decellularized artery allograft containing autologous adipose-derived stem cells (ADSCs) on an 8-mm facial nerve branch lesion in a rat model. At 8 weeks postoperatively, functional evaluation of unilateral vibrissae movements, morphological analysis of regenerated nerve segments and retrograde labeling of facial motoneurons were all analyzed. Better regenerative outcomes associated with functional improvement, great axonal growth, and improved target reinnervation were achieved in the artery-ADSCs group (2), whereas the cut nerves sutured with artery conduits alone (group 1) achieved inferior restoration. Furthermore, transected nerves repaired with nerve autografts (group 3) resulted in significant recovery of whisking, maturation of myelinated fibers and increased number of labeled facial neurons, and the latter two parameters were significantly different from those of group 2. Collectively, though our combined use of a decellularized artery allograft with autologous ADSCs achieved regenerative outcomes inferior to a nerve autograft, it certainly showed a beneficial effect on promoting nerve regeneration and thus represents an alternative approach for the reconstruction of peripheral facial nerve defects. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

Birth defects and congenital health risks in children conceived through assisted reproduction technology (ART): a meeting report.

PubMed

2014-08-01

Assisted Reproduction Treatment (ART) is here to stay. This review addresses the parental background of birth defects, before, during and after conception and focuses both on the underlying subfertility and on the question whether ART as a treatment is an additional contributing factor. Searches were performed in Medline and other databases. Summaries were discussed in a Delphi panel set-up by the European Society of Human Reproduction and Embryology (ESHRE). Several birth defects and adult diseases arise during the earliest stages of ovarian development and oocyte differentiation: this is the case of cleft palate disorders in offspring from female rat exposed to Dioxin during fetal life or the polycystic ovary diseases in female offspring (primates) exposed to elevated androgen concentration during fetal life. Human oocytes and embryos often fail to stop the propagation of aneuploid cells but maintain their ability to repair DNA damages including those introduced by the fertilizing sperm. There is a 29 % increased risk of birth defects in the newborns spontaneously conceived by subfertile couples and the risk is further increased (34 %) when conception is achieved by treating infertlity with ART (Danish IVF Registry). Periconceptional conditions are critical for ART babies: their birth weight is in general smaller (Norvegian Registry) but a more prolonged culture time doubled the number of large babies (Finnish Registry). The long-term developmental effects of ART on child and subsequent health as an adult remains a subject worthy of futher monitoring and investigation.

Facial artery musculomucosal flap for reconstruction of skull base defects: a cadaveric study.

PubMed

Xie, Liyue; Lavigne, François; Rahal, Akram; Moubayed, Sami Pierre; Ayad, Tareck

2013-08-01

Failure in skull base defects reconstruction following tumor resection can have serious consequences such as ascending meningitis and pneumocephaly. The nasoseptal flap showed a very low incidence of cerebrospinal fluid leak but is not always available. The superiorly pedicled facial artery musculomucosal (FAMM) flap has been successfully used for reconstruction of head and neck defects. Our objective is to show that the FAMM flap can be used as a new alternative in skull base reconstruction. Cadaveric study. Feasibility. Thirteen specimens underwent bilateral FAMM flap dissection. Two new modifications of the traditional FAMM flap have been developed. Feasibility in FAMM flap transfer to the skull base was investigated through endoscopic skull base dissection and maxillectomy in four specimens. Measurements were recorded for each harvested flap. The mean surface area of the modified FAMM flap efficient for reconstruction was 15.90 cm(2) . The flaps easily covered the simulated defects of the frontal sinus and the fovea ethmoidalis areas. Modifications of the traditional FAMM flap were necessary for a tension-free coverage of the planum sphenoidale and sella turcica. The FAMM flap holds high potential as a new alternative vascular flap in skull base reconstruction. However, it has not been used in patients yet and should be considered only when other options are not available. New modifications developed in this article can elongate the traditional FAMM flap, potentially contributing to a tighter seal of the skull base defect than FAMM flap alone. © 2013 The American Laryngological, Rhinological and Otological Society, Inc.

Computer-assisted orthognathic surgery combined with fibular osteomyocutaneous flap reconstruction to correct facial asymmetry and maxillary defects secondary to maxillectomy in childhood.

PubMed

Zhang, Lei; Sun, Hao; Yu, Hong-bo; Yuan, Hao; Shen, Guo-fang; Wang, Xu-dong

2013-05-01

Maxillectomy in childhood not only causes composite primary defects but also secondary malformation of the middle and lower face. In the case presented, we introduced computer-assisted planning and simulation of orthognathic surgery combined with fibular osteomyocutaneous flap reconstruction to correct complex craniofacial deformities. Virtual orthognathic surgery and maxillary reconstruction surgery were undertaken preoperatively. LeFort I osteotomy, with bilateral sagittal split ramus osteotomy and lower border ostectomy, was performed to correct malocclusion and facial asymmetry. Maxillary reconstruction was accomplished using a fibular osteomyocutaneous flap. The patient recovered uneventfully with an adequate aesthetic appearance on 3D computed tomography. Our experience indicates that orthognathic surgery combined with fibular osteomyocutaneous flap reconstruction can used to correct complex facial asymmetry and maxillary defects secondary to maxillectomy. Computer-assisted simulation enables precise execution of the reconstruction. It shortens the free flap ischemia time and reduces the risks associated with microsurgery.

Epidemiological Surveillance of Birth Defects Compatible with Thalidomide Embryopathy in Brazil

PubMed Central

Vianna, Fernanda Sales Luiz; Lopez-Camelo, Jorge S.; Leite, Júlio César Louguercio; Sanseverino, Maria Teresa Vieira; Dutra, Maria da Graça; Castilla, Eduardo E.; Schüler-Faccini, Lavínia

2011-01-01

The thalidomide tragedy of the 1960s resulted in thousands of children being born with severe limb reduction defects (LRD), among other malformations. In Brazil, there are still babies born with thalidomide embryopathy (TE) because of leprosy prevalence, availability of thalidomide, and deficiencies in the control of drug dispensation. Our objective was to implement a system of proactive surveillance to identify birth defects compatible with TE. Along one year, newborns with LRD were assessed in the Brazilian hospitals participating in the Latin-American Collaborative Study of Congenital Malformations (ECLAMC). A phenotype of LRD called thalidomide embryopathy phenotype (TEP) was established for surveillance. Children with TEP born between the years 2000–2008 were monitored, and during the 2007–2008 period we clinically investigated in greater detail all cases with TEP (proactive period). The period from 1982 to 1999 was defined as the baseline period for the cumulative sum statistics. The frequency of TEP during the surveillance period, at 3.10/10,000 births (CI 95%: 2.50–3.70), was significantly higher than that observed in the baseline period (1.92/10,000 births; CI 95%: 1.60–2.20), and not uniformly distributed across different Brazilian regions. During the proactive surveillance (2007–2008), two cases of suspected TE were identified, although the two mothers had denied the use of the drug during pregnancy. Our results suggest that TEP has probably increased in recent years, which coincides with the period of greater thalidomide availability. Our proactive surveillance identified two newborns with suspected TE, proving to be a sensitive tool to detect TE. The high frequency of leprosy and the large use of thalidomide reinforce the need for a continuous monitoring of TEP across Brazil. PMID:21754997

Impact of Co-Occurring Birth Defects on the Timing of Newborn Hearing Screening and Diagnosis

PubMed Central

Chapman, Derek A.; Stampfel, Caroline C.; Bodurtha, Joann N.; Dodson, Kelley M.; Pandya, Arti; Lynch, Kathleen B.; Kirby, Russell S.

2016-01-01

Purpose Early detection of hearing loss in all newborns and timely intervention are critical to children's cognitive, verbal, behavioral, and social development. The initiation of appropriate early intervention services before 6 months of age can prevent or reduce negative developmental consequences. The purpose of this study was to assess, using large, population-based registries, the effect of co-occurring birth defects (CBDs) on the timing and overall rate of hearing screening and diagnosis. Method The authors linked statewide data from newborn hearing screenings, a birth defects registry, and birth certificates to assess the timeliness of newborn hearing screening and diagnosis of hearing loss (HL) for infants with and without CBDs in 485 children with confirmed HL. Results Nearly one third (31.5%) of children with HL had 1 or more CBDs. The presence of CBDs prolonged the time of the initial infant hearing screening, which contributed to further delays in the subsequent diagnosis of HL. Conclusions Better coordination of HL assessment into treatment plans for children with CBDs may enable earlier diagnosis of HL and provide opportunities for intervention that will affect long-term developmental outcomes for these children. PMID:21940980

Magnetic resonance imaging study of eye congenital birth defects in mouse model

PubMed Central

Tucker, Zachary; Mongan, Maureen; Meng, Qinghang; Xia, Ying

2017-01-01

Purpose Embryonic eyelid closure is a well-documented morphogenetic episode in mammalian eye development. Detection of eyelid closure defect in humans is a major challenge because eyelid closure and reopen occur entirely in utero. As a consequence, congenital eye defects that are associated with failure of embryonic eyelid closure remain unknown. To fill the gap, we developed a mouse model of defective eyelid closure. This preliminary work demonstrates that the magnetic resonance imaging (MRI) approach can be used for the detection of extraocular muscle abnormalities in the mouse model. Methods Mice with either normal (Map3k1+/−) or defective (Map3k1−/−) embryonic eyelid closure were used in this study. Images of the extraocular muscles were obtained with a 9.4 T high resolution microimaging MRI system. The extraocular muscles were identified, segmented, and measured in each imaging slice using an in-house program. Results In agreement with histological findings, the imaging data show that mice with defective embryonic eyelid closure develop less extraocular muscle than normal mice. In addition, the size of the eyeballs was noticeably reduced in mice with defective embryonic eyelid closure. Conclusions We demonstrated that MRI can potentially be used for the study of extraocular muscle in the mouse model of the eye open-at-birth defect, despite the lack of specificity of muscle group provided by the current imaging resolution. PMID:28848319

Nasolabial facial artery and vein as recipient vessels for midface microsurgical reconstruction.

PubMed

Oh, Suk Joon; Jeon, Man Kyung; Koh, Sung Hoon

2011-05-01

Although free flap transfer is commonly performed to reconstruct facial defects, the submandibular facial artery and vein have historically been considered as adequate recipient vessels for microsurgical reconstruction. If the vascular pedicles of the free flap are short, vein grafts are necessary. The purpose of this study was to determine the indications for and effectiveness of using the nasolabial facial vessels for midfacial reconstruction. A retrospective chart review of 6 patients undergoing microsurgical reconstruction for defects of the face revealed 6 free tissue transfers in which the nasolabial facial artery and vein were considered for use as recipient vessels. Flap success rates were evaluated. Six patients (5 men and 1 woman) underwent 6 free flap transfers. Five anterior helix free flaps were used for the reconstruction of defects in the lower third of the nose. Nasal defects were due to trauma in 4 patients and squamous cell carcinoma in 1 patient. In 1 neurofibromatosis type 1 case, a radial forearm flap was used for reconstruction of the left orbital defect. The facial artery and vein in the nasolabial fold were used as the recipient artery and vein in every case. The mean length of follow-up was 5.8 years. All flaps survived. All patients were satisfied with the degree of aesthetic improvement after surgery.Use of the facial artery and vein in the nasolabial fold for facial reconstruction is reliable and safe. The nasolabial facial artery and vein should be considered as primary recipient vessels in microsurgical reconstruction of the midface.

Impact of sample collection participation on the validity of estimated measures of association in the National Birth Defects Prevention Study when assessing gene-environment interactions.

PubMed

Jenkins, Mary M; Reefhuis, Jennita; Herring, Amy H; Honein, Margaret A

2017-12-01

To better understand the impact that nonresponse for specimen collection has on the validity of estimates of association, we examined associations between self-reported maternal periconceptional smoking, folic acid use, or pregestational diabetes mellitus and six birth defects among families who did and did not submit buccal cell samples for DNA following a telephone interview as part of the National Birth Defects Prevention Study (NBDPS). Analyses included control families with live born infants who had no birth defects (N = 9,465), families of infants with anorectal atresia or stenosis (N = 873), limb reduction defects (N = 1,037), gastroschisis (N = 1,090), neural tube defects (N = 1,764), orofacial clefts (N = 3,836), or septal heart defects (N = 4,157). Estimated dates of delivery were between 1997 and 2009. For each exposure and birth defect, odds ratios and 95% confidence intervals were calculated using logistic regression stratified by race-ethnicity and sample collection status. Tests for interaction were applied to identify potential differences between estimated measures of association based on sample collection status. Significant differences in estimated measures of association were observed in only four of 48 analyses with sufficient sample sizes. Despite lower than desired participation rates in buccal cell sample collection, this validation provides some reassurance that the estimates obtained for sample collectors and noncollectors are comparable. These findings support the validity of observed associations in gene-environment interaction studies for the selected exposures and birth defects among NBDPS participants who submitted DNA samples. Published 2017. This article is a U.S. Government work and is in the public domain in the USA.

Birth Defects Data and Statistics

MedlinePlus

... Septal Defect Atrioventricular Septal Defect Coarctation of the Aorta D-Transposition of the Great Arteries Hypoplastic Left ... Syndrome Disorders Gastroschisis Heart Defects Coarctation of the Aorta Hypoplastic left heart syndrome Tetralogy of Fallot Other ...

COMPARISON OF GEOCODING METHODS USED IN CASE-CONTROL STUDY OF AIR QUALITY AND BIRTH DEFECTS

EPA Science Inventory

Introduction: Accurate geocoding of maternal residence is critical to the success of an ongoing case-control study of exposure to five criteria air pollutants and the risk of selected birth defects in seven Texas counties between 1997 and 2000. The geocoded maternal residence a...

Association between Prenatal Exposure to Antiretroviral Therapy and Birth Defects: An Analysis of the French Perinatal Cohort Study (ANRS CO1/CO11)

PubMed Central

Sibiude, Jeanne; Mandelbrot, Laurent; Blanche, Stéphane; Le Chenadec, Jérôme; Boullag-Bonnet, Naima; Faye, Albert; Dollfus, Catherine; Tubiana, Roland; Bonnet, Damien; Lelong, Nathalie; Khoshnood, Babak; Warszawski, Josiane

2014-01-01

Background Antiretroviral therapy (ART) has major benefits during pregnancy, both for maternal health and to prevent mother-to-child transmission of HIV. Safety issues, including teratogenic risk, need to be evaluated. We estimated the prevalence of birth defects in children born to HIV-infected women receiving ART during pregnancy, and assessed the independent association of birth defects with each antiretroviral (ARV) drug used. Methods and Findings The French Perinatal Cohort prospectively enrolls HIV-infected women delivering in 90 centers throughout France. Children are followed by pediatricians until 2 y of age according to national guidelines. We included 13,124 live births between 1994 and 2010, among which, 42% (n = 5,388) were exposed to ART in the first trimester of pregnancy. Birth defects were studied using both European Surveillance of Congenital Anomalies (EUROCAT) and Metropolitan Atlanta Congenital Defects Program (MACDP) classifications; associations with ART were evaluated using univariate and multivariate logistic regressions. Correction for multiple comparisons was not performed because the analyses were based on hypotheses emanating from previous findings in the literature and the robustness of the findings of the current study. The prevalence of birth defects was 4.4% (95% CI 4.0%–4.7%), according to the EUROCAT classification. In multivariate analysis adjusting for other ARV drugs, maternal age, geographical origin, intravenous drug use, and type of maternity center, a significant association was found between exposure to zidovudine in the first trimester and congenital heart defects: 2.3% (74/3,267), adjusted odds ratio (AOR) = 2.2 (95% CI 1.3–3.7), p = 0.003, absolute risk difference attributed to zidovudine +1.2% (95% CI +0.5; +1.9%). Didanosine and indinavir were associated with head and neck defects, respectively: 0.5%, AOR = 3.4 (95% CI 1.1–10.4), p = 0.04; 0.9%, AOR = 3.8 (95% CI 1.1–13.8), p = 0

BIRTH DEFECTS RISK ASSOCIATED WITH MATERNAL SPORT FISH CONSUMPTION: POTENTIAL EFFECT MODIFICATION BY SEX OF OFFSPRING

EPA Science Inventory

Contaminated sport fish consumption may result in exposure to various reproductive and developmental toxicants, including pesticides and other suspected endocrine disruptors. We investigated the relation between maternal sport fish meals and risk of major birth defects among infa...

Birth Defects in Infants Born in 1998-2004 to Men and Women Serving in the US Military During the 1990-1991 Gulf War Era

DTIC Science & Technology

2012-08-18

vaccinations , medication, and pesticides) and the prevalence of birth defects in the chil- dren of male Gulf War veterans. In our study, deploy- ment-specific...Defects Res A Clin Mol Teratol 70:572–579. Reichenberg A, Gross R, Weiser M, et al. 2006. Advancing paternal age and autism . Arch Gen Psychiatry 63...received smallpox vaccine . Birth Defects Res A Clin Mol Teratol 82:533–539. Ryan MA, Pershyn-Kisor MA, Honner WK, et al. 2001. The Department of Defense

Birth Defects in Gaza: Prevalence, Types, Familiarity and Correlation with Environmental Factors

PubMed Central

Naim, Awny; Al Dalies, Hedaya; El Balawi, Mohammed; Salem, Eman; Al Meziny, Kholud; Al Shawwa, Raneem; Minutolo, Roberto; Manduca, Paola

2012-01-01

This is the first report of registration at birth, and of incidence of major structural birth defects (BD) obtained in Gaza at Al Shifa Hospital, where 28% of total births in Gaza Strip occur. Doctors registered 4,027 deliveries, with a protocol comprehensive of clinical, demographic, kin and environmental questions. Prevalence of BD is 14/1,000, without association with intermarriage or gender of the child. Prevalence of late miscarriages and still births are respectively 23.3/1,000 and 7.4/1,000, and of premature births 19.6/1,000. Couples with a BD child have about 10 times higher frequency of recurrence of a BD in their progeny than those with normal children, but none of their 694 siblings and only 10/1,000 of their 1,423 progeny had BD, similar to the frequency in general population. These data suggest occurrence of novel genetic and epigenetic events in determination of BD. Children with BD were born with higher frequency (p < 0 001) in families where one or both parents were under “white phosphorus” attack, that in the general population. Bombing of the family home and removal of the rubble were also frequently reported by couples with BD occurrence. These data suggests a causative/favoring role of acute exposure of parents to the weapons-associated contaminants, and/or of their chronic exposure from their persistence in the environment on the embryonic development of their children. PMID:22754469

Arrhenius thermodynamics and birth defects: chemical teratogen synergy. Untested, testable, and projected relevance.

PubMed

Miller, Morton W; Church, Charles C

2013-03-01

This article addresses the issue of hyperthermia-induced birth defects with an accompanying additional teratogen, be it a chemical or a physical agent (i.e., a simultaneous "combinational" exposure to two teratogens, one of which is hyperthermia). Hyperthermia per se is a recognized human and animal teratogen. An excellent example of such combinational exposures is an epileptic woman who becomes pregnant while taking valproic acid (VPA) to control seizures. VPA is a recognized chemical teratogen, and fever (hyperthermia) is not an uncommon event during pregnancy. While VPA also may occasionally induce fever as a side effect, we are concerned here with fevers arising from other, unrelated causes. There is a small but internally consistent literature on these combinational-teratogen exposures involving hyperthermia plus a chemical teratogen; in each instance, the effect level has been observed to be synergistically elevated above levels induced by the separate teratogenic components. The data were empirical. The observed synergy is, however, consistent with Arrhenius thermodynamics, a well-known chemical rate equation. The need for information about combinational teratogen exposures is acute; fever is a common occurrence during pregnancy; and there are many instances whereby there is also the simultaneous presence of some other teratogen(s). Given that the rate of autism spectrum disorders in the United States was recently presented as 1 in 88 births, it seems reasonable to suspect that such combinational regimens are much more prevalent than previously thought. Our hypothesis is that synergistic birth defect levels from combinational regimens are consistent with Arrhenius thermodynamics. Copyright © 2013 Wiley Periodicals, Inc.

Retrospective study of primary reconstruction of facial traumatic events.

PubMed

Chen, Baoguo; Song, Huifeng; Gao, Quanwen; Xu, Minghuo; Chai, Jiake

2017-02-01

Facial traumatic events are commonly encountered in plastic and reconstructive surgery. Primary reconstruction is a reliable procedure with function and aesthetic considerations. We conduct a retrospective study of the experience of reconstructing facial traumatic defects in the first stage. One hundred and thirty-two cases (aged 18-65) with facial traumatic events were recruited in the study from 2008 to 2014. Facial traumatic events included injured soft tissue, maxillofacial fractures and facial nerve rupture, which were repaired primarily. After primary reconstruction, encouraging functional and aesthetic outcomes were attained. Ten cases were re-operated to reconstruct partial nasal defect. Four patients who had trouble with disabled occluding relations sought help from dentists. Inconspicuous scar and function restoration were presented. Facial wounds should be reconstructed in the first stage as far as possible. Then, satisfactory functional and aesthetic results can be achieved. However, combined injury should be carefully considered in those traumatic cases before we carry out the reconstructive surgery on the face. © 2016 Medicalhelplines.com Inc and John Wiley & Sons Ltd.

[Facial paralysis in children].

PubMed

Muler, H; Paquelin, F; Cotin, G; Luboinski, B; Henin, J M

1975-01-01

Facial paralyses in children may be grouped under headings displaying a certain amount of individuality. Chronologically, first to be described are neonatal facial paralyses. These are common and are nearly always cured within a few days. Some of these cases are due to the mastoid being crushed at birth with or without the use of forceps. The intra-osseous pathway of the facial nerve is then affected throughout its length. However, a cure is often spontaneous. When this desirable development does not take place within three months, the nerve should be freed by decompressive surgery. The special anatomy of the facial nerve in the new-born baby makes this a delicate operation. Later, in all stages of acute otitis, acute mastoiditis or chronic otitis, facial paralysis can be seen. Treatment depends on the stage reached by the otitis: paracentesis, mastoidectomy, various scraping procedures, and, of course, antibiotherapy. The other causes of facial paralysis in children are very much less common: a frigore or viral, traumatic, occur ring in the course of acute poliomyelitis, shingles or tumours of the middle ear. To these must be added exceptional causes such as vitamin D intoxication, idiopathic hypercalcaemia and certain haemopathies.

Ten-Year Review of Major Birth Defects in VLBW Infants

PubMed Central

Hansen, Nellie I.; Shankaran, Seetha; Bell, Edward F.; Boghossian, Nansi S.; Murray, Jeffrey C.; Laptook, Abbot R.; Walsh, Michele C.; Carlo, Waldemar A.; Sánchez, Pablo J.; Van Meurs, Krisa P.; Das, Abhik; Hale, Ellen C.; Newman, Nancy S.; Ball, M. Bethany; Higgins, Rosemary D.; Stoll, Barbara J.

2013-01-01

OBJECTIVE: Birth defects (BDs) are an important cause of infant mortality and disproportionately occur among low birth weight infants. We determined the prevalence of BDs in a cohort of very low birth weight (VLBW) infants cared for at the Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network (NRN) centers over a 10-year period and examined the relationship between anomalies, neonatal outcomes, and surgical care. METHODS: Infant and maternal data were collected prospectively for infants weighing 401 to 1500 g at NRN sites between January 1, 1998, and December 31, 2007. Poisson regression models were used to compare risk of outcomes for infants with versus without BDs while adjusting for gestational age and other characteristics. RESULTS: A BD was present in 1776 (4.8%) of the 37 262 infants in our VLBW cohort. Yearly prevalence of BDs increased from 4.0% of infants born in 1998 to 5.6% in 2007, P < .001. Mean gestational age overall was 28 weeks, and mean birth weight was 1007 g. Infants with BDs were more mature but more likely to be small for gestational age compared with infants without BDs. Chromosomal and cardiovascular anomalies were most frequent with each occurring in 20% of affected infants. Mortality was higher among infants with BDs (49% vs 18%; adjusted relative risk: 3.66 [95% confidence interval: 3.41–3.92]; P < .001) and varied by diagnosis. Among those surviving >3 days, more infants with BDs underwent major surgery (48% vs 13%, P < .001). CONCLUSIONS: Prevalence of BDs increased during the 10 years studied. BDs remain an important cause of neonatal morbidity and mortality among VLBW infants. PMID:23733791

CASE-CONTROL STUDY OF AIR QUALITY AND BIRTH DEFECTS: COMPARISON OF GEOCODED AND NON-GEOCODED POPULATIONS

EPA Science Inventory

Unbiased geocoding of maternal residence is critical to the success of an ongoing case-control study of exposure to five criteria air pollutants and the risk of selected birth defects in seven Texas counties between 1997 and 2000. The geocoded residence at delivery will be used ...

3D imaging acquisition, modeling, and prototyping for facial defects reconstruction

NASA Astrophysics Data System (ADS)

Sansoni, Giovanna; Trebeschi, Marco; Cavagnini, Gianluca; Gastaldi, Giorgio

2009-01-01

A novel approach that combines optical three-dimensional imaging, reverse engineering (RE) and rapid prototyping (RP) for mold production in the prosthetic reconstruction of facial prostheses is presented. A commercial laser-stripe digitizer is used to perform the multiview acquisition of the patient's face; the point clouds are aligned and merged in order to obtain a polygonal model, which is then edited to sculpture the virtual prothesis. Two physical models of both the deformed face and the 'repaired' face are obtained: they differ only in the defect zone. Depending on the material used for the actual prosthesis, the two prototypes can be used either to directly cast the final prosthesis or to fabricate the positive wax pattern. Two case studies are presented, referring to prostetic reconstructions of an eye and of a nose. The results demonstrate the advantages over conventional techniques as well as the improvements with respect to known automated manufacturing techniques in the mold construction. The proposed method results into decreased patient's disconfort, reduced dependence on the anaplasthologist skill, increased repeatability and efficiency of the whole process.

Promising Technique for Facial Nerve Reconstruction in Extended Parotidectomy

PubMed Central

Villarreal, Ithzel Maria; Rodríguez-Valiente, Antonio; Castelló, Jose Ramon; Górriz, Carmen; Montero, Oscar Alvarez; García-Berrocal, Jose Ramon

2015-01-01

Introduction: Malignant tumors of the parotid gland account scarcely for 5% of all head and neck tumors. Most of these neoplasms have a high tendency for recurrence, local infiltration, perineural extension, and metastasis. Although uncommon, these malignant tumors require complex surgical treatment sometimes involving a total parotidectomy including a complete facial nerve resection. Severe functional and aesthetic facial defects are the result of a complete sacrifice or injury to isolated branches becoming an uncomfortable distress for patients and a major challenge for reconstructive surgeons. Case Report: A case of a 54-year-old, systemically healthy male patient with a 4 month complaint of pain and swelling on the right side of the face is presented. The patient reported a rapid increase in the size of the lesion over the past 2 months. Imaging tests and histopathological analysis reported an adenoid cystic carcinoma. A complete parotidectomy was carried out with an intraoperative notice of facial nerve infiltration requiring a second intervention for nerve and defect reconstruction. A free ALT flap with vascularized nerve grafts was the surgical choice. A 6 month follow-up showed partial facial movement recovery and the facial defect mended. Conclusion: It is of critical importance to restore function to patients with facial nerve injury. Vascularized nerve grafts, in many clinical and experimental studies, have shown to result in better nerve regeneration than conventional non-vascularized nerve grafts. Nevertheless, there are factors that may affect the degree, speed and regeneration rate regarding the free fasciocutaneous flap. In complex head and neck defects following a total parotidectomy, the extended free fasciocutaneous ALT (anterior-lateral thigh) flap with a vascularized nerve graft is ideally suited for the reconstruction of the injured site. Donor–site morbidity is low and additional surgical time is minimal compared with the time of a single

Promising Technique for Facial Nerve Reconstruction in Extended Parotidectomy.

PubMed

Villarreal, Ithzel Maria; Rodríguez-Valiente, Antonio; Castelló, Jose Ramon; Górriz, Carmen; Montero, Oscar Alvarez; García-Berrocal, Jose Ramon

2015-11-01

Malignant tumors of the parotid gland account scarcely for 5% of all head and neck tumors. Most of these neoplasms have a high tendency for recurrence, local infiltration, perineural extension, and metastasis. Although uncommon, these malignant tumors require complex surgical treatment sometimes involving a total parotidectomy including a complete facial nerve resection. Severe functional and aesthetic facial defects are the result of a complete sacrifice or injury to isolated branches becoming an uncomfortable distress for patients and a major challenge for reconstructive surgeons. A case of a 54-year-old, systemically healthy male patient with a 4 month complaint of pain and swelling on the right side of the face is presented. The patient reported a rapid increase in the size of the lesion over the past 2 months. Imaging tests and histopathological analysis reported an adenoid cystic carcinoma. A complete parotidectomy was carried out with an intraoperative notice of facial nerve infiltration requiring a second intervention for nerve and defect reconstruction. A free ALT flap with vascularized nerve grafts was the surgical choice. A 6 month follow-up showed partial facial movement recovery and the facial defect mended. It is of critical importance to restore function to patients with facial nerve injury. Vascularized nerve grafts, in many clinical and experimental studies, have shown to result in better nerve regeneration than conventional non-vascularized nerve grafts. Nevertheless, there are factors that may affect the degree, speed and regeneration rate regarding the free fasciocutaneous flap. In complex head and neck defects following a total parotidectomy, the extended free fasciocutaneous ALT (anterior-lateral thigh) flap with a vascularized nerve graft is ideally suited for the reconstruction of the injured site. Donor-site morbidity is low and additional surgical time is minimal compared with the time of a single ALT flap transfer.

Waste incineration and adverse birth and neonatal outcomes: a systematic review.

PubMed

Ashworth, Danielle C; Elliott, Paul; Toledano, Mireille B

2014-08-01

Public concern about potential health risks associated with incineration has prompted studies to investigate the relationship between incineration and risk of cancer, and more recently, birth outcomes. We conducted a systematic review of epidemiologic studies evaluating the relationship between waste incineration and the risk of adverse birth and neonatal outcomes. Literature searches were performed within the MEDLINE database, through PubMed and Ovid interfaces, for the search terms; incineration, birth, reproduction, neonatal, congenital anomalies and all related terms. Here we discuss and critically evaluate the findings of these studies. A comprehensive literature search yielded fourteen studies, encompassing a range of outcomes (including congenital anomalies, birth weight, twinning, stillbirths, sex ratio and infant death), exposure assessment methods and study designs. For congenital anomalies most studies reported no association with proximity to or emissions from waste incinerators and "all anomalies", but weak associations for neural tube and heart defects and stronger associations with facial clefts and urinary tract defects. There is limited evidence for an association between incineration and twinning and no evidence of an association with birth weight, stillbirths or sex ratio, but this may reflect the sparsity of studies exploring these outcomes. The current evidence-base is inconclusive and often limited by problems of exposure assessment, possible residual confounding, lack of statistical power with variability in study design and outcomes. However, we identified a number of higher quality studies reporting significant positive relationships with broad groups of congenital anomalies, warranting further investigation. Future studies should address the identified limitations in order to help improve our understanding of any potential adverse birth outcomes associated with incineration, particularly focussing on broad groups of anomalies, to inform

Birth defects observed with maternal carbimazole treatment: Six cases reported to Nice's Pharmacovigilance Center.

PubMed

Koenig, D; Spreux, A; Hiéronimus, S; Chichmanian, R-M; Bastiani, F; Fénichel, Patrick; Brucker-Davis, F

2010-12-01

To report cases of embryopathy occurring following first trimester exposure to anti-thyroid drugs. Retrospective screening of the database of our Pharmacovigilance Center from 1987 to date. We report six cases of embryopathy, all following carbimazole exposure during the first trimester: two cases of abdominal wall defect, including one associated with facial dysmorphia; one case of digestive malformation (patent omphalomesenteric duct); two cases of aplasia cutis including one with facial dysmorphism; one case of bilateral choanal atresia with aorta coarctation associated with poorly controlled insulin dependent diabetes. Four out of five patients were euthyroid with treatment during the first trimester. We found a context suggesting genetic predisposition to congenital malformation in three cases: two cases of parental cleft lip/palate, one case of consanguinity. Outcome was favorable in all cases. We want to raise awareness about the potential teratogenicity of carbimazole, probably on a predisposed genetic background. We suggest better reporting of congenital anomalies in children of women with Graves'disease, with or without in utero exposure to anti-thyroid drugs. In light of current literature, propylthiouracil should be the first line treatment for hyperthyroid women wishing a pregnancy. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

E-cigarette aerosol exposure can cause craniofacial defects in Xenopus laevis embryos and mammalian neural crest cells

PubMed Central

Kennedy, Allyson E.; Kandalam, Suraj; Olivares-Navarrete, Rene

2017-01-01

Since electronic cigarette (ECIG) introduction to American markets in 2007, vaping has surged in popularity. Many, including women of reproductive age, also believe that ECIG use is safer than traditional tobacco cigarettes and is not hazardous when pregnant. However, there are few studies investigating the effects of ECIG exposure on the developing embryo and nothing is known about potential effects on craniofacial development. Therefore, we have tested the effects of several aerosolized e-cigarette liquids (e-cigAM) in an in vivo craniofacial model, Xenopus laevis, as well as a mammalian neural crest cell line. Results demonstrate that e-cigAM exposure during embryonic development induces a variety of defects, including median facial clefts and midface hypoplasia in two of e-cigAMs tested e-cigAMs. Detailed quantitative analyses of the facial morphology revealed that nicotine is not the main factor in inducing craniofacial defects, but can exacerbate the effects of the other e-liquid components. Additionally, while two different e-cigAMs can have very similar consequences on facial appearances, there are subtle differences that could be due to the differences in e-cigAM components. Further assessment of embryos exposed to these particular e-cigAMs revealed cranial cartilage and muscle defects and a reduction in the blood supply to the face. Finally, the expression of markers for vascular and cartilage differentiation was reduced in a mammalian neural crest cell line corroborating the in vivo effects. Our work is the first to show that ECIG use could pose a potential hazard to the developing embryo and cause craniofacial birth defects. This emphasizes the need for more testing and regulation of this new popular product. PMID:28957438

E-cigarette aerosol exposure can cause craniofacial defects in Xenopus laevis embryos and mammalian neural crest cells.

PubMed

Kennedy, Allyson E; Kandalam, Suraj; Olivares-Navarrete, Rene; Dickinson, Amanda J G

2017-01-01

Since electronic cigarette (ECIG) introduction to American markets in 2007, vaping has surged in popularity. Many, including women of reproductive age, also believe that ECIG use is safer than traditional tobacco cigarettes and is not hazardous when pregnant. However, there are few studies investigating the effects of ECIG exposure on the developing embryo and nothing is known about potential effects on craniofacial development. Therefore, we have tested the effects of several aerosolized e-cigarette liquids (e-cigAM) in an in vivo craniofacial model, Xenopus laevis, as well as a mammalian neural crest cell line. Results demonstrate that e-cigAM exposure during embryonic development induces a variety of defects, including median facial clefts and midface hypoplasia in two of e-cigAMs tested e-cigAMs. Detailed quantitative analyses of the facial morphology revealed that nicotine is not the main factor in inducing craniofacial defects, but can exacerbate the effects of the other e-liquid components. Additionally, while two different e-cigAMs can have very similar consequences on facial appearances, there are subtle differences that could be due to the differences in e-cigAM components. Further assessment of embryos exposed to these particular e-cigAMs revealed cranial cartilage and muscle defects and a reduction in the blood supply to the face. Finally, the expression of markers for vascular and cartilage differentiation was reduced in a mammalian neural crest cell line corroborating the in vivo effects. Our work is the first to show that ECIG use could pose a potential hazard to the developing embryo and cause craniofacial birth defects. This emphasizes the need for more testing and regulation of this new popular product.

Drinking & Congenital Birth Defects: Alcohol Awareness in the Northern Rivers Region of New South Wales, Australia

ERIC Educational Resources Information Center

Yeigh, Tony; Dip, Grad; Kean, Brian

2005-01-01

Purpose: Guidelines developed to minimise the risk of harm associated with alcohol consumption in Australia focus on promoting population health by changing cultural attitudes. This research study was conducted to uncover attitudes toward maternal drinking and awareness of alcohol-related birth defects within the semi-rural Northern Rivers area of…

An exploratory analysis of the relationship between ambient ozone and particulate matter concentrations during early pregnancy and selected birth defects in Texas

EPA Science Inventory

Background: Associations between ozone (O3) and fine particulate matter (PM2.5) concentrations and birth outcomes have been previously demonstrated. We perform an exploratory analysis of O3 and PM2.5 concentrations during early pregnancy and multiple types of birth defects. Met...

The use of folic acid for the prevention of birth defects in Puerto Rico

PubMed Central

García-Fragoso, Lourdes; García-García, Inés; Rivera, Cynthia E.

2009-01-01

Introduction The occurrence of neural tube defects (NTD) has been shown to vary by race/ethnicity, with the highest rates among women of Hispanic ethnicity. Women of reproductive age are advised to use folic acid to prevent NTD and other birth defects. Since 1994, Puerto Rico has a campaign to promote the use of folic acid and since 1998 there is fortification of enriched grain products. After fortification, there has been a reduction in the incidence of NTD in the island. The objective of this study is to assess the use of folic acid by women of reproductive age in Puerto Rico and determine factors associated to its use. Methods A self-administered questionnaire was answered by 964 women around the island. Results Folic acid consumption was reported by 30% of the participants, 21% reported to consume it at least 4 times per week, and only 14% consumed it the day before the survey. Knowledge about the recommendation for women to consume folic acid was reported by 97% of the participants. The use of folic acid was lower among women of lower education and lower social class. Women with higher education were 8.3 times more likely to consume folic acid. Conclusion The folic acid campaign has improved women’s knowledge about the recommendation for folic acid supplementation. Nevertheless, its use is lower than desired to continue reducing the incidence of birth defects in Puerto Rico. Education and social class continue to represent barriers to eliminate the disparities in the pre-conception health of our population. PMID:18646342

Facial Transplantation Surgery Introduction

PubMed Central

2015-01-01

Severely disfiguring facial injuries can have a devastating impact on the patient's quality of life. During the past decade, vascularized facial allotransplantation has progressed from an experimental possibility to a clinical reality in the fields of disease, trauma, and congenital malformations. This technique may now be considered a viable option for repairing complex craniofacial defects for which the results of autologous reconstruction remain suboptimal. Vascularized facial allotransplantation permits optimal anatomical reconstruction and provides desired functional, esthetic, and psychosocial benefits that are far superior to those achieved with conventional methods. Along with dramatic improvements in their functional statuses, patients regain the ability to make facial expressions such as smiling and to perform various functions such as smelling, eating, drinking, and speaking. The ideas in the 1997 movie "Face/Off" have now been realized in the clinical field. The objective of this article is to introduce this new surgical field, provide a basis for examining the status of the field of face transplantation, and stimulate and enhance facial transplantation studies in Korea. PMID:26028914

Facial transplantation surgery introduction.

PubMed

Eun, Seok-Chan

2015-06-01

Severely disfiguring facial injuries can have a devastating impact on the patient's quality of life. During the past decade, vascularized facial allotransplantation has progressed from an experimental possibility to a clinical reality in the fields of disease, trauma, and congenital malformations. This technique may now be considered a viable option for repairing complex craniofacial defects for which the results of autologous reconstruction remain suboptimal. Vascularized facial allotransplantation permits optimal anatomical reconstruction and provides desired functional, esthetic, and psychosocial benefits that are far superior to those achieved with conventional methods. Along with dramatic improvements in their functional statuses, patients regain the ability to make facial expressions such as smiling and to perform various functions such as smelling, eating, drinking, and speaking. The ideas in the 1997 movie "Face/Off" have now been realized in the clinical field. The objective of this article is to introduce this new surgical field, provide a basis for examining the status of the field of face transplantation, and stimulate and enhance facial transplantation studies in Korea.

Associations between exposure to ambient benzene and PM(2.5) during pregnancy and the risk of selected birth defects in offspring.

PubMed

Tanner, Jean Paul; Salemi, Jason L; Stuart, Amy L; Yu, Haofei; Jordan, Melissa M; DuClos, Chris; Cavicchia, Philip; Correia, Jane A; Watkins, Sharon M; Kirby, Russell S

2015-10-01

A growing number of studies have investigated the association between air pollution and the risk of birth defects, but results are inconsistent. The objective of this study was to examine whether maternal exposure to ambient PM2.5 or benzene increases the risk of selected birth defects in Florida. We conducted a retrospective cohort study of singleton infants born in Florida from 2000 to 2009. Isolated and non-isolated birth defect cases of critical congenital heart defects, orofacial clefts, and spina bifida were identified from the Florida Birth Defects Registry. Estimates of maternal exposures to PM2.5 and benzene for all case and non-case pregnancies were derived by aggregation of ambient measurement data, obtained from the US Environmental Protection Agency Air Quality System, during etiologically relevant time windows. Multivariable Poisson regression was used to estimate adjusted prevalence ratios (aPRs) and 95% confidence intervals (CIs) for each quartile of air pollutant exposure. Compared to the first quartile of PM2.5 exposure, higher levels of exposure were associated with an increased risk of non-isolated truncus arteriosus (aPR4th Quartile, 8.80; 95% CI, 1.11-69.50), total anomalous pulmonary venous return (aPR2nd Quartile, 5.00; 95% CI, 1.10-22.84), coarctation of the aorta (aPR4th Quartile, 1.72; 95% CI, 1.15-2.57; aPR3rd Quartile, 1.60; 95% CI, 1.07-2.41), interrupted aortic arch (aPR4th Quartile, 5.50; 95% CI, 1.22-24.82), and isolated and non-isolated any critical congenital heart defect (aPR3rd Quartile, 1.13; 95% CI, 1.02-1.25; aPR4th Quartile, 1.33; 95% CI, 1.07-1.65). Mothers with the highest level of exposure to benzene were more likely to deliver an infant with an isolated cleft palate (aPR4th Quartile, 1.52; 95% CI, 1.13-2.04) or any orofacial cleft (aPR4th Quartile, 1.29; 95% CI, 1.08-1.56). An inverse association was observed between exposure to benzene and non-isolated pulmonary atresia (aPR4th Quartile, 0.19; 95% CI, 0.04-0.84). Our

March of Dimes Birth Defects Foundation

MedlinePlus

... the loop I'M IN 2017 Premature Birth Report Cards See how prematurity affects your state and ... premature birth: The Prematurity Campaign About us Annual report Our work Community impact Global programs Research Need ...

Soft Tissue Management in Facial Trauma

PubMed Central

Braun, Tara L.; Maricevich, Renata S.

2017-01-01

The management of soft tissue injury after facial trauma poses unique challenges to the plastic surgeon, given the specialized nature of facial tissue and the aesthetic importance of the face. The general principles of trauma management and wound care are applied in all cases. The management of severe injuries to the face is discussed in relation to the location and the mechanism of injury. Facial transplants have arisen in the past decade for the management of catastrophic soft tissue defects, although high morbidity and mortality after these non-life-saving operations must be considered in patient selection. PMID:28496386

MafB deficiency causes defective respiratory rhythmogenesis and fatal central apnea at birth.

PubMed

Blanchi, Bruno; Kelly, Louise M; Viemari, Jean-Charles; Lafon, Isabelle; Burnet, Henri; Bévengut, Michelle; Tillmanns, Silke; Daniel, Laurent; Graf, Thomas; Hilaire, Gerard; Sieweke, Michael H

2003-10-01

The genetic basis for the development of brainstem neurons that generate respiratory rhythm is unknown. Here we show that mice deficient for the transcription factor MafB die from central apnea at birth and are defective for respiratory rhythmogenesis in vitro. MafB is expressed in a subpopulation of neurons in the preBötzinger complex (preBötC), a putative principal site of rhythmogenesis. Brainstems from Mafb(-/-) mice are insensitive to preBötC electrolytic lesion or stimulation and modulation of rhythmogenesis by hypoxia or peptidergic input. Furthermore, in Mafb(-/-) mice the preBötC, but not major neuromodulatory groups, presents severe anatomical defects with loss of cellularity. Our results show an essential role of MafB in central respiratory control, possibly involving the specification of rhythmogenic preBötC neurons.

Who Should Be Targeted for the Prevention of Birth Defects? A Latent Class Analysis Based on a Large, Population-Based, Cross-Sectional Study in Shaanxi Province, Western China.

PubMed

Zhu, Zhonghai; Cheng, Yue; Yang, Wenfang; Li, Danyang; Yang, Xue; Liu, Danli; Zhang, Min; Yan, Hong; Zeng, Lingxia

2016-01-01

The wide range and complex combinations of factors that cause birth defects impede the development of primary prevention strategies targeted at high-risk subpopulations. Latent class analysis (LCA) was conducted to identify mutually exclusive profiles of factors associated with birth defects among women between 15 and 49 years of age using data from a large, population-based, cross-sectional study conducted in Shaanxi Province, western China, between August and October, 2013. The odds ratios (ORs) and 95% confidence intervals (CIs) of associated factors and the latent profiles of indicators of birth defects and congenital heart defects were computed using a logistic regression model. Five discrete subpopulations of participants were identified as follows: No folic acid supplementation in the periconceptional period (reference class, 21.37%); low maternal education level + unhealthy lifestyle (class 2, 39.75%); low maternal education level + unhealthy lifestyle + disease (class 3, 23.71%); unhealthy maternal lifestyle + advanced age (class 4, 4.71%); and multi-risk factor exposure (class 5, 10.45%). Compared with the reference subgroup, the other subgroups consistently had a significantly increased risk of birth defects (ORs and 95% CIs: class 2, 1.75 and 1.21-2.54; class 3, 3.13 and 2.17-4.52; class 4, 5.02 and 3.20-7.88; and class 5, 12.25 and 8.61-17.42, respectively). For congenital heart defects, the ORs and 95% CIs were all higher, and the magnitude of OR differences ranged from 1.59 to 16.15. A comprehensive intervention strategy targeting maternal exposure to multiple risk factors is expected to show the strongest results in preventing birth defects.

Neural Tube Defects

MedlinePlus

Neural tube defects are birth defects of the brain, spine, or spinal cord. They happen in the ... that she is pregnant. The two most common neural tube defects are spina bifida and anencephaly. In ...

Computer-aided position planning of miniplates to treat facial bone defects.

PubMed

Egger, Jan; Wallner, Jürgen; Gall, Markus; Chen, Xiaojun; Schwenzer-Zimmerer, Katja; Reinbacher, Knut; Schmalstieg, Dieter

2017-01-01

In this contribution, a software system for computer-aided position planning of miniplates to treat facial bone defects is proposed. The intra-operatively used bone plates have to be passively adapted on the underlying bone contours for adequate bone fragment stabilization. However, this procedure can lead to frequent intra-operatively performed material readjustments especially in complex surgical cases. Our approach is able to fit a selection of common implant models on the surgeon's desired position in a 3D computer model. This happens with respect to the surrounding anatomical structures, always including the possibility of adjusting both the direction and the position of the used osteosynthesis material. By using the proposed software, surgeons are able to pre-plan the out coming implant in its form and morphology with the aid of a computer-visualized model within a few minutes. Further, the resulting model can be stored in STL file format, the commonly used format for 3D printing. Using this technology, surgeons are able to print the virtual generated implant, or create an individually designed bending tool. This method leads to adapted osteosynthesis materials according to the surrounding anatomy and requires further a minimum amount of money and time.

Impact of Time to Maternal Interview on Interview Responses in the National Birth Defects Prevention Study

PubMed Central

Tinker, Sarah C.; Gibbs, Cassandra; Strickland, Matthew J.; Devine, Owen J.; Crider, Krista S.; Werler, Martha M.; Anderka, Marlene T.; Reefhuis, Jennita

2013-01-01

Prenatal exposures often are assessed using retrospective interviews. Time from exposure to interview may influence data accuracy. We investigated the association of time to interview (TTI) with aspects of interview responses in the National Birth Defects Prevention Study, a population-based case-control study of birth defects in 10 US states. Mothers completed a computer-assisted telephone interview 1.5–24 months after their estimated date of delivery. Proxy metrics for interview quality were whether certain exposures were reported, whether the start month of reported medication use or illness was reported, or whether responses were missing. Interaction by case status was assessed. Interviews were completed with 30,542 mothers (22,366 cases and 8,176 controls) who gave birth between 1997 and 2007. Mothers of cases were interviewed later than were mothers of controls (11.7 months vs. 9.5 months, respectively). In adjusted analyses, having a TTI that was greater than 6 months was associated with only a few aspects of interview responses (e.g., start month of pseudoephedrine use). Interaction by case-control status was observed for some exposures; mothers of controls had a greater reduction in interview quality with increased TTI in these instances (e.g., report of morning sickness, start month of acetaminophen use and ibuprofen use). The results suggest that TTI might impact interview responses; however, the impact may be minimal and specific to the type of exposure. PMID:23645625

Impact of time to maternal interview on interview responses in the National Birth Defects Prevention Study.

PubMed

Tinker, Sarah C; Gibbs, Cassandra; Strickland, Matthew J; Devine, Owen J; Crider, Krista S; Werler, Martha M; Anderka, Marlene T; Reefhuis, Jennita

2013-06-01

Prenatal exposures often are assessed using retrospective interviews. Time from exposure to interview may influence data accuracy. We investigated the association of time to interview (TTI) with aspects of interview responses in the National Birth Defects Prevention Study, a population-based case-control study of birth defects in 10 US states. Mothers completed a computer-assisted telephone interview 1.5-24 months after their estimated date of delivery. Proxy metrics for interview quality were whether certain exposures were reported, whether the start month of reported medication use or illness was reported, or whether responses were missing. Interaction by case status was assessed. Interviews were completed with 30,542 mothers (22,366 cases and 8,176 controls) who gave birth between 1997 and 2007. Mothers of cases were interviewed later than were mothers of controls (11.7 months vs. 9.5 months, respectively). In adjusted analyses, having a TTI that was greater than 6 months was associated with only a few aspects of interview responses (e.g., start month of pseudoephedrine use). Interaction by case-control status was observed for some exposures; mothers of controls had a greater reduction in interview quality with increased TTI in these instances (e.g., report of morning sickness, start month of acetaminophen use and ibuprofen use). The results suggest that TTI might impact interview responses; however, the impact may be minimal and specific to the type of exposure.

Xenopus as a Model Organism for Birth Defects – Congenital Heart Disease and Heterotaxy

PubMed Central

Duncan, Anna R.; Khokha, Mustafa K.

2016-01-01

Congenital heart disease is the leading cause of birth defects, affecting 9 out of 1000 newborns each year. A particularly severe form of congenital heart disease is heterotaxy, a disorder of left-right development. Despite aggressive surgical management, patients with heterotaxy have poor survival rates and severe morbidity due to their complex congenital heart disease. Recent genetic analysis of affected patients has found novel candidate genes for heterotaxy although their underlying mechanisms remain unknown. In this review, we discuss the importance and challenges of birth defects research including high locus heterogeneity and few second alleles that make defining disease causality difficult. A powerful strategy moving forward is to analyze these candidate genes in a high-throughput human disease model. Xenopus is ideal for these studies. We present multiple examples demonstrating the power of Xenopus in discovery new biology from the analysis of candidate heterotaxy genes such as GALNT11, NEK2 and BCOR. These genes have diverse roles in embryos and have led to a greater understanding of complex signaling pathways and basic developmental biology. It is our hope that the mechanistic analysis of these candidate genes in Xenopus enabled by next generation sequencing of patients will provide clinicians with a greater understanding of patient pathophysiology allowing more precise and personalized medicine, to help them more effectively in the future. PMID:26910255

Facial Reconstruction by Biosurgery: Cell Transplantation Versus Cell Homing

PubMed Central

Stosich, Michael S.; Moioli, Eduardo K.; Lee, Chang Hun; Fu, Susan Y.; Bastian, Barbara; Eisig, Sidney B.; Zemnick, Candice; Ascherman, Jeffrey; Wu, June; Rohde, Christine; Ahn, Jeffrey

2010-01-01

The face distinguishes one human being from another. When the face is disfigured because of trauma, tumor removal, congenital anomalies, or chronic diseases, the patient has a strong desire for functional and esthetic restoration. Current practice of facial reconstruction using autologous grafts, synthetic fillers, and prostheses is frequently below the surgeon's and patient's expectations. Facial reconstruction is yet to take advantage of recent advances in seemingly unrelated fields of stem cell biology, chemical engineering, biomaterials, and tissue engineering. “Biosurgery,” a new concept that we propose, will incorporate novel principles and strategies of bioactive cues, biopolymers, and/or cells to restore facial defects. Small facial defects can likely be reconstructed by cell homing and without cell transplantation. A critical advantage of cell homing is that agilely recruited endogenous cells have the potential to harness the host's innate capacity for regeneration, thus accelerating the rate of regulatory and commercialization processes for product development. Large facial defects, however, may not be restorable without cell delivery per our understanding at this time. New breakthrough in biosurgery will likely originate from integrated strategies of cell biology, cytokine biology, chemical engineering, biomaterials, and tissue engineering. Regardless of cell homing or cell delivery approaches, biosurgery not only will minimize surgical trauma and repetitive procedures, but also produce long-lasting results. At the same time, caution must be exercised against the development of products that lack scientific basis or dogmatic combination of cells, biomaterials, and biomolecules. Together, scientifically derived biosurgery will undoubtedly develop into new technologies that offer increasingly natural reconstruction and/or augmentation of the face. PMID:19891541

Versatility of the Angularis Oris Axial Pattern Flap for Facial Reconstruction.

PubMed

Losinski, Sara L; Stanley, Bryden J; Schallberger, Sandra P; Nelson, Laura L; Towle Millard, Heather A M

2015-11-01

To describe the versatility of the axial pattern flap based on the cutaneous perforating branch of the angularis oris artery for reconstruction of large facial defects in dogs, including complications and clinical outcomes. Retrospective clinical case series. Client-owned dogs (n = 8). Facial flaps (n = 9) based at the commissure of the lip with a caudodorsal orientation were utilized, with established anatomical borders. Flaps were elevated deep to the panniculus carnosus in a caudal to rostral direction, preserving the angularis oris artery, its cutaneous perforator, and surrounding cutaneous vasculature. Flaps were rotated dorsally or ventrally to cover the defect. Primary closure of the donor site was by direct apposition in all cases. Angularis oris axial pattern flaps were most commonly used to close large defects of the nasomaxillary area rostral to the eyes (6 dogs), followed by orbital (2) and intermandibular (1) defects. Defects occurred because of tumor resection (6 dogs), trauma (2), and a chronic, non-healing wounding (1). All flaps healed with acceptable functional and cosmetic outcomes without major complications. Followup ranged from 10 days to 16 months. Minor postoperative complications included flap edema (8 dogs), partial incisional dehiscence (3), distal tip necrosis (2), and oroantral fistula recurrence (1). Angularis oris axial pattern flaps provided hirsute, full-thickness skin coverage of a variety of large facial defects with minor complications, and should be considered when restructuring large defects of the rostral face or chin. © Copyright 2015 by The American College of Veterinary Surgeons.

Facial Gunshot Wounds: Trends in Management

PubMed Central

Kaufman, Yoav; Cole, Patrick; Hollier, Larry H.

2009-01-01

Facial gunshot wounds, often comprising significant soft and bone tissue defects, pose a significant challenge for reconstructive surgeons. Whether resulting from assault, accident, or suicide attempt, a thorough assessment of the defects is essential for devising an appropriate tissue repair and replacement with a likely secondary revision. Immediately after injury, management is centered on advanced trauma life support with patient stabilization as the primary goal. Thorough examination along with appropriate imaging is critical for identifying any existing defects. Whereas past surgical management advocated delayed definitive treatment using serial debridement, today’s management favors use of more immediate reconstruction. Recent advances in microsurgical technique have shifted favor from local tissue advancement to distant free flap transfers, which improve cosmesis and function. This has resulted in a lower number of surgeries required to achieve reconstruction. Because of the diversity of injury and the complexity of facial gunshot injuries, a systematic algorithm is essential to help manage the different stages of healing and to ensure that the best outcome is achieved. PMID:22110801

Maternal occupational exposure to polycyclic aromatic hydrocarbons and craniosynostosis among offspring in the National Birth Defects Prevention Study.

PubMed

O'Brien, Jacqueline L; Langlois, Peter H; Lawson, Christina C; Scheuerle, Angela; Rocheleau, Carissa M; Waters, Martha A; Symanski, Elaine; Romitti, Paul A; Agopian, A J; Lupo, Philip J

2016-01-01

Evidence in animal models and humans suggests that exposure to polycyclic aromatic hydrocarbons (PAHs) may lead to birth defects. To our knowledge, this relationship has not been evaluated for craniosynostosis, a birth defect characterized by the premature closure of sutures in the skull. We conducted a case-control study to examine associations between maternal occupational exposure to PAHs and craniosynostosis. We used data from craniosynostosis cases and control infants in the National Birth Defects Prevention Study (NBDPS) with estimated delivery dates from 1997 to 2002. Industrial hygienists reviewed occupational data from the computer-assisted telephone interview and assigned a yes/no rating of probable occupational PAH exposure for each job from 1 month before conception through delivery. We used logistic regression to assess the association between occupational exposure to PAHs and craniosynostosis. The prevalence of exposure was 5.3% in case mothers (16/300) and 3.7% in control mothers (107/2,886). We observed a positive association between exposure to PAHs during the 1 month before conception through the third month of pregnancy and craniosynostosis (odds ratio [OR] = 1.75; 95% confidence interval [CI], 1.01-3.05) after adjusting for maternal age and maternal education. The number of cases for each craniosynostosis subtype limited subtype analyses to sagittal craniosynostosis; the odds ratio remained similar (OR = 1.76, 95% CI, 0.82-3.75), but was not significant. Our findings support a moderate association between maternal occupational exposure to PAHs and craniosynostosis. Additional work is needed to better characterize susceptibility and the role PAHs may play on specific craniosynostosis subtypes. © 2015 Wiley Periodicals, Inc.

Computer-aided position planning of miniplates to treat facial bone defects

PubMed Central

Wallner, Jürgen; Gall, Markus; Chen, Xiaojun; Schwenzer-Zimmerer, Katja; Reinbacher, Knut; Schmalstieg, Dieter

2017-01-01

In this contribution, a software system for computer-aided position planning of miniplates to treat facial bone defects is proposed. The intra-operatively used bone plates have to be passively adapted on the underlying bone contours for adequate bone fragment stabilization. However, this procedure can lead to frequent intra-operatively performed material readjustments especially in complex surgical cases. Our approach is able to fit a selection of common implant models on the surgeon’s desired position in a 3D computer model. This happens with respect to the surrounding anatomical structures, always including the possibility of adjusting both the direction and the position of the used osteosynthesis material. By using the proposed software, surgeons are able to pre-plan the out coming implant in its form and morphology with the aid of a computer-visualized model within a few minutes. Further, the resulting model can be stored in STL file format, the commonly used format for 3D printing. Using this technology, surgeons are able to print the virtual generated implant, or create an individually designed bending tool. This method leads to adapted osteosynthesis materials according to the surrounding anatomy and requires further a minimum amount of money and time. PMID:28817607

RELIANCE ON GEOCODED MATERNAL RESIDENCE: IMPACT ON A POPULATION-BASED CASE-CONTROL STUDY OF AIR QUALITY AND BIRTH DEFECTS

EPA Science Inventory

Introduction: Unbiased geocoding of maternal residence is critical to the success of an ongoing population-based case-control study of exposure to five criteria air pollutants and the risk of selected birth defects in seven Texas counties between 1997 and 2000. The geocoded res...

Repairing a Facial Cleft by Polyether-Ether-Ketone Implant Combined With Titanium Mesh.

PubMed

Deng, Yuan; Tang, Weiwei; Li, Zhengkang

2018-05-15

The Tessier Number 4 cleft is one of the rarest, most complex craniofacial anomalies that presents difficulties in surgical treatment. In this article, we report a case of simultaneous facial depression, eye displacement, and medial canthus deformity. In this case, the maxillary bony defect was reconstructed using computer-assisted design computer-assisted manufacturing (CAD-CAM) polyether-ether-ketone (PEEK) material, and the orbital floor defect was repaired with AO prefabricated titanium mesh. Additionally, the medial canthus was modified with canthopexy and a single Z-plasty flap. Owing to its relative rarity and varied clinical presentations, no definitive operative methods have been accepted for Tessier No. 4 facial cleft. This study presents the combination of CAD-CAM manufactured PEEK material and titanium mesh as an alternative approach for reconstructing the bony defect of Tessier No. 4 facial clefts.

Comparison of facial features of DiGeorge syndrome (DGS) due to deletion 10p13-10pter with DGS due to 22q11 deletion

DOE Office of Scientific and Technical Information (OSTI.GOV)

Goodship, J.; Lynch, S.; Brown, J.

1994-09-01

DiGeorge syndrome (DGS) is a congenital anomaly consisting of cardiac defects, aplasia or hypoplasia of the thymus and parathroid glands, and dysmorphic facial features. The majority of DGS cases have a submicroscopic deletion within chromosome 22q11. However there have been a number of reports of DGS in association with other chromosomal abnormalities including four cases with chromosome 10p deletions. We describe a further 10p deletion case and suggest that the facial features in children with DGS due to deletions of 10p are different from those associated with chromosome 22 deletions. The propositus was born at 39 weeks gestation to unrelatedmore » caucasian parents, birth weight 2580g (10th centile) and was noted to be dysmorphic and cyanosed shortly after birth. The main dysmorphic facial features were a broad nasal bridge with very short palpebral fissures. Echocardiography revealed a large subsortic VSD and overriding aorta. She had a low ionised calcium and low parathroid hormone level. T cell subsets and PHA response were normal. Abdominal ultrasound showed duplex kidneys and on further investigation she was found to have reflux and raised plasma creatinine. She had an anteriorly placed anus. Her karyotype was 46,XX,-10,+der(10)t(3;10)(p23;p13)mat. The dysmorphic facial features in this baby are strikingly similar to those noted by Bridgeman and Butler in child with DGS as the result of a 10p deletion and distinct from the face seen in children with DiGeorge syndrome resulting from interstitial chromosome 22 deletions.« less

A distal 594 bp ECR specifies Hmx1 expression in pinna and lateral facial morphogenesis and is regulated by the Hox-Pbx-Meis complex

DOE PAGES

Rosin, Jessica M.; Li, Wenjie; Cox, Liza L.; ...

2016-07-19

Hmx1 encodes a homeodomain transcription factor expressed in the developing lateral craniofacial mesenchyme, retina and sensory ganglia. Mutation or mis-regulation of Hmx1 underlies malformations of the eye and external ear in multiple species. Deletion or insertional duplication of an evolutionarily conserved region (ECR) downstream of Hmx1 has recently been described in rat and cow, respectively. Here, we demonstrate that the impact of Hmx1 loss is greater than previously appreciated, with a variety of lateral cranioskeletal defects, auriculofacial nerve deficits, and duplication of the caudal region of the external ear. Using a transgenic approach, we demonstrate that a 594 bp sequencemore » encompassing the ECR recapitulates specific aspects of the endogenous Hmx1 lateral facial expression pattern. Moreover, we show that Hoxa2, Meis and Pbx proteins act cooperatively on the ECR, via a core 32 bp sequence, to regulate Hmx1 expression. In conclusion, these studies highlight the conserved role for Hmx1 in BA2-derived tissues and provide an entry point for improved understanding of the causes of the frequent lateral facial birth defects in humans.« less

A distal 594 bp ECR specifies Hmx1 expression in pinna and lateral facial morphogenesis and is regulated by the Hox-Pbx-Meis complex

DOE Office of Scientific and Technical Information (OSTI.GOV)

Rosin, Jessica M.; Li, Wenjie; Cox, Liza L.

Hmx1 encodes a homeodomain transcription factor expressed in the developing lateral craniofacial mesenchyme, retina and sensory ganglia. Mutation or mis-regulation of Hmx1 underlies malformations of the eye and external ear in multiple species. Deletion or insertional duplication of an evolutionarily conserved region (ECR) downstream of Hmx1 has recently been described in rat and cow, respectively. Here, we demonstrate that the impact of Hmx1 loss is greater than previously appreciated, with a variety of lateral cranioskeletal defects, auriculofacial nerve deficits, and duplication of the caudal region of the external ear. Using a transgenic approach, we demonstrate that a 594 bp sequencemore » encompassing the ECR recapitulates specific aspects of the endogenous Hmx1 lateral facial expression pattern. Moreover, we show that Hoxa2, Meis and Pbx proteins act cooperatively on the ECR, via a core 32 bp sequence, to regulate Hmx1 expression. In conclusion, these studies highlight the conserved role for Hmx1 in BA2-derived tissues and provide an entry point for improved understanding of the causes of the frequent lateral facial birth defects in humans.« less

FastStats: Multiple Births

MedlinePlus

... Accidents or Unintentional Injuries All Injuries Assault or Homicide Suicide and Self-Inflicted Injury Life Stages and Populations Age Groups Adolescent Health Child Health Infant Health Older Persons’ Health Births Birth Defects or ...

Atrioventricular Canal Defect

MedlinePlus

... birth (congenital). The condition is often associated with Down syndrome. Atrioventricular canal defect allows extra blood to flow ... baby's heart is developing. Some factors, such as Down syndrome, might increase the risk of atrioventricular canal defect. ...

Reconstruction of facial deformities with alloplastic material.

PubMed

Schultz, R C

1981-12-01

The two most ideal and versatile foreign materials for reconstruction of facial bone deformities are silicone rubber and methyl methacrylate. Their biomechanical characteristics are uniquely suited to facial implantation for reconstruction of complex, irregular bony defects. The advantages and disadvantages of each are discussed, along with specific indications for their use. Surgical approaches and various methods of fabrication and fixation are presented and illustrated. The hazards and potential disappointments in the use of these and other alloplastic implants are reviewed.

Geometric Evaluation of the Effect of Prosthetic Rehabilitation on Facial Asymmetry in Patients with Unilateral Maxillectomy.

PubMed

Aswehlee, Amel M; Hattori, Mariko; Elbashti, Mahmoud E; Sumita, Yuka I; Taniguchi, Hisashi

This study aimed (1) to geometrically evaluate areas of facial asymmetry in patients with two different types of maxillectomy defect compared to a control group, (2) to geometrically evaluate the effect of an obturator prosthesis on facial asymmetry, and (3) to investigate the correlation between three-dimensional (3D) deviation values and number of missing teeth. Facial data from 13 normal control participants and 26 participants with two types of maxillectomy defect (groups 1 and 2) were acquired with a noncontact 3D digitizer. Facial asymmetry was evaluated by superimposing a facial scan onto its mirror scan using 3D evaluation software. Facial scans with and without obturator prostheses were also superimposed to evaluate the obturator effect. The correlation between 3D deviation values and number of missing teeth was also evaluated. Statistical analyses were performed. Facial asymmetry was significantly different between the control group and each maxillectomy defect group (group 1: P < .0001 and P = .020 without and with obturator, respectively; group 2: P < .0001 for both conditions). There were no significant differences in asymmetry between groups 1 and 2 either without or with obturator (P = .457 and P = .980, respectively). There was a significant difference in the obturator effect between groups 1 and 2 (P = .038). 3D deviation values were positively correlated with number of missing teeth in group 1 (r = 0.594, P = .032), but not in group 2. A noncontact 3D digitizer and 3D deviation assessment were effective for analyzing facial data of maxillectomy patients. Obturators were effective for improving facial deformities in these patients.

Facial mimetic, cosmetic, and functional standardized assessment of the facial artery musculomucosal (FAMM) flap.

PubMed

Jowett, Nathan; Hadlock, Tessa A; Sela, Eyal; Toth, Miklos; Knecht, Rainald; Lörincz, Balazs B

2017-04-01

To objectively assess donor site morbidity after harvesting the facial artery musculomucosal flap. Use of the FAMM-flap in oral cavity reconstruction remains sporadic. This case series describes our newly developed standardized assessment of this flap in a floor of mouth (FOM) reconstructive setting. Standardized postoperative assessment of the FAMM flap for donor site wound complications, functional, facial mimetic and oncologic outcomes. There were no wound complications. Oral competence remained intact, tongue mobility was good to excellent, average word articulation score was 98%, and mimetic function excellent in all patients. Three patients experienced ipsilateral upper lip anesthesia, and five patients were noted to have slight dysfunction of the orbicularis oris resulting in a loss of lip height at rest. The FAMM flap is a reliable option for reconstruction of ablative defects of the FOM, and should be considered a workhorse flap for oral cavity defects. Unlike the submental island flap, a complete level I dissection may be concurrently performed without compromising the vascular supply to the FAMM flap. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

[Delayed reconstructions of soft tissue defects of the face].

PubMed

Mest'ák, J

2007-06-01

The author describes a non-standard approach to the management of facial soft tissue defects. Significance of delayed reconstructions in defect face injuries and options for their employment in indicated cases are highlighted.

Stillbirth and neonatal death rates across time: the influence of pregnancy terminations and birth defects in a Western Australian population-based cohort study.

PubMed

Farrant, Brad M; Stanley, Fiona J; Hardelid, Pia; Shepherd, Carrington C J

2016-05-17

The stillbirth rate in most high income countries reduced in the early part of the 20(th) century but has apparently been static over the past 2½ decades. However, there has not been any account taken of pregnancy terminations and birth defects on these trends. The current study sought to quantify these relationships using linked Western Australian administrative data for the years 1986-2010. We analysed a retrospective, population-based cohort of Western Australia births from 1986 to 2010, with de-identified linked data from core population health datasets. The study revealed a significant decrease in the neonatal death rate from 1986 to 2010 (6.1 to 2.1 neonatal deaths per 1000 births; p < .01), while the overall stillbirth rate remained static. The stillbirth trend was driven by deaths in the extremely preterm period (20-27 weeks; which account for about half of all recorded stillbirths and neonatal deaths), masking significant decreases in the rate of stillbirth at very preterm (28-31 weeks), moderate to late preterm (32-36 weeks), and term (37+ weeks). For singletons, birth defects made up an increasing proportion of stillbirths and decreasing proportion of neonatal deaths over the study period-a shift that appears to have been largely driven by the increase in late pregnancy terminations (20 weeks or more gestation). After accounting for pregnancy terminations, we observed a significant downward trend in stillbirth and neonatal death rates at every gestational age. Changes in clinical practice related to pregnancy terminations have played a substantial role in shaping stillbirth and neonatal death rates in Western Australia over the 2½ decades to 2010. The study underscores the need to disaggregate perinatal mortality data in order to support a fuller consideration of the influence of pregnancy terminations and birth defects when assessing change over time in the rates of stillbirth and neonatal death.

Overview of Facial Plastic Surgery and Current Developments

PubMed Central

Chuang, Jessica; Barnes, Christian; Wong, Brian J. F.

2016-01-01

Facial plastic surgery is a multidisciplinary specialty largely driven by otolaryngology but includes oral maxillary surgery, dermatology, ophthalmology, and plastic surgery. It encompasses both reconstructive and cosmetic components. The scope of practice for facial plastic surgeons in the United States may include rhinoplasty, browlifts, blepharoplasty, facelifts, microvascular reconstruction of the head and neck, craniomaxillofacial trauma reconstruction, and correction of defects in the face after skin cancer resection. Facial plastic surgery also encompasses the use of injectable fillers, neural modulators (e.g., BOTOX Cosmetic, Allergan Pharmaceuticals, Westport, Ireland), lasers, and other devices aimed at rejuvenating skin. Facial plastic surgery is a constantly evolving field with continuing innovative advances in surgical techniques and cosmetic adjunctive technologies. This article aims to give an overview of the various procedures that encompass the field of facial plastic surgery and to highlight the recent advances and trends in procedures and surgical techniques. PMID:28824978

Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.

PubMed

Bermejo-Sánchez, Eva; Cuevas, Lourdes; Amar, Emmanuelle; Bianca, Sebastiano; Bianchi, Fabrizio; Botto, Lorenzo D; Canfield, Mark A; Castilla, Eduardo E; Clementi, Maurizio; Cocchi, Guido; Landau, Danielle; Leoncini, Emanuele; Li, Zhu; Lowry, R Brian; Mastroiacovo, Pierpaolo; Mutchinick, Osvaldo M; Rissmann, Anke; Ritvanen, Annukka; Scarano, Gioacchino; Siffel, Csaba; Szabova, Elena; Martínez-Frías, María-Luisa

2011-11-15

Epidemiologic data on phocomelia are scarce. This study presents an epidemiologic analysis of the largest series of phocomelia cases known to date. Data were provided by 19 birth defect surveillance programs, all members of the International Clearinghouse for Birth Defects Surveillance and Research. Depending on the program, data corresponded to a period from 1968 through 2006. A total of 22,740,933 live births, stillbirths and, for some programs, elective terminations of pregnancy for fetal anomaly (ETOPFA) were monitored. After a detailed review of clinical data, only true phocomelia cases were included. Descriptive data are presented and additional analyses compared isolated cases with those with multiple congenital anomalies (MCA), excluding syndromes. We also briefly compared congenital anomalies associated with nonsyndromic phocomelia with those presented with amelia, another rare severe congenital limb defect. A total of 141 phocomelia cases registered gave an overall total prevalence of 0.62 per 100,000 births (95% confidence interval: 0.52-0.73). Three programs (Australia Victoria, South America ECLAMC, Italy North East) had significantly different prevalence estimates. Most cases (53.2%) had isolated phocomelia, while 9.9% had syndromes. Most nonsyndromic cases were monomelic (55.9%), with an excess of left (64.9%) and upper limb (64.9%) involvement. Most nonsyndromic cases (66.9%) were live births; most isolated cases (57.9%) weighed more than 2,499 g; most MCA (60.7%) weighed less than 2,500 g, and were more likely stillbirths (30.8%) or ETOPFA (15.4%) than isolated cases. The most common associated defects were musculoskeletal, cardiac, and intestinal. Epidemiological differences between phocomelia and amelia highlighted possible differences in their causes. Copyright © 2011 Wiley Periodicals, Inc.

Phocomelia: A Worldwide Descriptive Epidemiologic Study in a Large Series of Cases From the International Clearinghouse for Birth Defects Surveillance and Research, and Overview of the Literature

PubMed Central

Bermejo-Sánchez, Eva; Cuevas, Lourdes; Amar, Emmanuelle; Bianca, Sebastiano; Bianchi, Fabrizio; Botto, Lorenzo D.; Canfield, Mark A.; Castilla, Eduardo E.; Clementi, Maurizio; Cocchi, Guido; Landau, Danielle; Leoncini, Emanuele; Li, Zhu; Lowry, R. Brian; Mastroiacovo, Pierpaolo; Mutchinick, Osvaldo M.; Rissmann, Anke; Ritvanen, Annukka; Scarano, Gioacchino; Siffel, Csaba; Szabova, Elena; Martínez-Frías, María-Luisa

2015-01-01

Epidemiologic data on phocomelia are scarce. This study presents an epidemiologic analysis of the largest series of phocomelia cases known to date. Data were provided by 19 birth defect surveillance programs, all members of the International Clearinghouse for Birth Defects Surveillance and Research. Depending on the program, data corresponded to a period from 1968 through 2006. A total of 22,740,933 live births, stillbirths and, for some programs, elective terminations of pregnancy for fetal anomaly (ETOPFA) were monitored. After a detailed review of clinical data, only true phocomelia cases were included. Descriptive data are presented and additional analyses compared isolated cases with those with multiple congenital anomalies (MCA), excluding syndromes. We also briefly compared congenital anomalies associated with nonsyndromic phocomelia with those presented with amelia, another rare severe congenital limb defect. A total of 141 phocomelia cases registered gave an overall total prevalence of 0.62 per 100,000 births (95% confidence interval: 0.52–0.73). Three programs (Australia Victoria, South America ECLAMC, Italy North East) had significantly different prevalence estimates. Most cases (53.2%) had isolated phocomelia, while 9.9% had syndromes. Most nonsyndromic cases were monomelic (55.9%), with an excess of left (64.9%) and upper limb (64.9%) involvement. Most nonsyndromic cases (66.9%) were live births; most isolated cases (57.9%) weighed more than 2,499 g; most MCA (60.7%) weighed less than 2,500 g, and were more likely stillbirths (30.8%) or ETOPFA (15.4%) than isolated cases. The most common associated defects were musculoskeletal, cardiac, and intestinal. Epidemiological differences between phocomelia and amelia highlighted possible differences in their causes. PMID:22002800

[No interrupted surgical defects of the white upper lip: repair by a combined advancement and rotation flap in the lip subunit].

PubMed

Guillot, P

2013-01-01

A solid understanding of anatomy, basic surgical principles, and tissue movement is essential when undertaking the reconstruction of facial cutaneous surgical defects. Aesthetic facial reconstruction requires understanding ability to use the tissue adjacent to the defect to create a reconstruction that preserves the function of the area and the cosmetic facial units and subunits. The closure of non interrupted white upper lip defects by using a combined advancement and rotation flap is preferred for defects not overtaking 2.5 cm in diameter.

Design and fabrication of facial prostheses for cancer patient applying computer aided method and manufacturing (CADCAM)

NASA Astrophysics Data System (ADS)

Din, Tengku Noor Daimah Tengku; Jamayet, Nafij; Rajion, Zainul Ahmad; Luddin, Norhayati; Abdullah, Johari Yap; Abdullah, Abdul Manaf; Yahya, Suzana

2016-12-01

Facial defects are either congenital or caused by trauma or cancer where most of them affect the person appearance. The emotional pressure and low self-esteem are problems commonly related to patient with facial defect. To overcome this problem, silicone prosthesis was designed to cover the defect part. This study describes the techniques in designing and fabrication for facial prosthesis applying computer aided method and manufacturing (CADCAM). The steps of fabricating the facial prosthesis were based on a patient case. The patient was diagnosed for Gorlin Gotz syndrome and came to Hospital Universiti Sains Malaysia (HUSM) for prosthesis. The 3D image of the patient was reconstructed from CT data using MIMICS software. Based on the 3D image, the intercanthal and zygomatic measurements of the patient were compared with available data in the database to find the suitable nose shape. The normal nose shape for the patient was retrieved from the nasal digital library. Mirror imaging technique was used to mirror the facial part. The final design of facial prosthesis including eye, nose and cheek was superimposed to see the result virtually. After the final design was confirmed, the mould design was created. The mould of nasal prosthesis was printed using Objet 3D printer. Silicone casting was done using the 3D print mould. The final prosthesis produced from the computer aided method was acceptable to be used for facial rehabilitation to provide better quality of life.

Characterizing facial features in individuals with craniofacial microsomia: A systematic approach for clinical research.

PubMed

Heike, Carrie L; Wallace, Erin; Speltz, Matthew L; Siebold, Babette; Werler, Martha M; Hing, Anne V; Birgfeld, Craig B; Collett, Brent R; Leroux, Brian G; Luquetti, Daniela V

2016-11-01

Craniofacial microsomia (CFM) is a congenital condition with wide phenotypic variability, including hypoplasia of the mandible and external ear. We assembled a cohort of children with facial features within the CFM spectrum and children without known craniofacial anomalies. We sought to develop a standardized approach to assess and describe the facial characteristics of the study cohort, using multiple sources of information gathered over the course of this longitudinal study and to create case subgroups with shared phenotypic features. Participants were enrolled between 1996 and 2002. We classified the facial phenotype from photographs, ratings using a modified version of the Orbital, Ear, Mandible, Nerve, Soft tissue (OMENS) pictorial system, data from medical record abstraction, and health history questionnaires. The participant sample included 142 cases and 290 controls. The average age was 13.5 years (standard deviation, 1.3 years; range, 11.1-17.1 years). Sixty-one percent of cases were male, 74% were white non-Hispanic. Among cases, the most common features were microtia (66%) and mandibular hypoplasia (50%). Case subgroups with meaningful group definitions included: (1) microtia without other CFM-related features (n = 24), (2) microtia with mandibular hypoplasia (n = 46), (3) other combinations of CFM- related facial features (n = 51), and (4) atypical features (n = 21). We developed a standardized approach for integrating multiple data sources to phenotype individuals with CFM, and created subgroups based on clinically-meaningful, shared characteristics. We hope that this system can be used to explore associations between phenotype and clinical outcomes of children with CFM and to identify the etiology of CFM. Birth Defects Research (Part A) 106:915-926, 2016.© 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Anaplastology in times of facial transplantation: Still a reasonable treatment option?

PubMed

Toso, Sabine Maria; Menzel, Kerstin; Motzkus, Yvonne; Klein, Martin; Menneking, Horst; Raguse, Jan-Dirk; Nahles, Susanne; Hoffmeister, Bodo; Adolphs, Nicolai

2015-09-01

Optimum functional and aesthetic facial reconstruction is still a challenge in patients who suffer from inborn or acquired facial deformity. It is known that functional and aesthetic impairment can result in significant psychosocial strain, leading to the social isolation of patients who are affected by major facial deformities. Microvascular techniques and increasing experience in facial transplantation certainly contribute to better restorative outcomes. However, these technologies also have some drawbacks, limitations and unsolved problems. Extensive facial defects which include several aesthetic units and dentition can be restored by combining dental prostheses and anaplastology, thus providing an adequate functional and aesthetic outcome in selected patients without the drawbacks of major surgical procedures. Referring to some representative patient cases, it is shown how extreme facial disfigurement after oncological surgery can be palliated by combining intraoral dentures with extraoral facial prostheses using individualized treatment and without the need for major reconstructive surgery. Copyright © 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Congenital Heart Defects and Receipt of Special Education Services.

PubMed

Riehle-Colarusso, Tiffany; Autry, Andrew; Razzaghi, Hilda; Boyle, Coleen A; Mahle, William T; Van Naarden Braun, Kim; Correa, Adolfo

2015-09-01

We investigated the prevalence of receipt of special education services among children with congenital heart defects (CHDs) compared with children without birth defects. Children born from 1982 to 2004 in metropolitan Atlanta with CHDs (n = 3744) were identified from a population-based birth defect surveillance program; children without birth defects (n = 860 715) were identified from birth certificates. Cohorts were linked to special education files for the 1992-2012 school years to identify special education services. Children with noncardiac defects or genetic syndromes were excluded; children with CHDs were classified by presence or absence of critical CHDs (ie, CHDs requiring intervention by age one year). We evaluated the prevalence of receipt of special education services and prevalence rate ratios using children without birth defects as a reference. Compared with children without birth defects, children with CHDs were 50% more likely to receive special education services overall (adjusted prevalence rate ratio [aPRR] = 1.5; 95% confidence interval [CI]: 1.4-1.7). Specifically, they had higher prevalence of several special education categories including: intellectual disability (aPRR = 3.8; 95% CI: 2.8-5.1), sensory impairment (aPRR = 3.0; 95% CI: 1.8-5.0), other health impairment (aPRR = 2.8; 95% CI: 2.2-3.5), significant developmental delay (aPRR = 1.9; 95% CI: 1.3-2.8), and specific learning disability (aPRR = 1.4; 95% CI: 1.1-1.7). For most special education services, the excess prevalence did not vary by presence of critical CHDs. Children with CHDs received special education services more often than children without birth defects. These findings highlight the need for special education services and the importance of developmental screening for all children with CHDs. Copyright © 2015 by the American Academy of Pediatrics.

Birth Defects & Other Health Conditions

MedlinePlus

... Congenital heart defects and CCHD Congenital syphilis Congenital Zika syndrome Coxsackie infection and your baby Cystic fibrosis ... families in our new awareness campaign video. GO Zika services near you Visit Zika Care Connect to ...

Cadherin-2 Is Required Cell Autonomously for Collective Migration of Facial Branchiomotor Neurons.

PubMed

Rebman, Jane K; Kirchoff, Kathryn E; Walsh, Gregory S

2016-01-01

Collective migration depends on cell-cell interactions between neighbors that contribute to their overall directionality, yet the mechanisms that control the coordinated migration of neurons remains to be elucidated. During hindbrain development, facial branchiomotor neurons (FBMNs) undergo a stereotypic tangential caudal migration from their place of birth in rhombomere (r)4 to their final location in r6/7. FBMNs engage in collective cell migration that depends on neuron-to-neuron interactions to facilitate caudal directionality. Here, we demonstrate that Cadherin-2-mediated neuron-to-neuron adhesion is necessary for directional and collective migration of FBMNs. We generated stable transgenic zebrafish expressing dominant-negative Cadherin-2 (Cdh2ΔEC) driven by the islet1 promoter. Cell-autonomous inactivation of Cadherin-2 function led to non-directional migration of FBMNs and a defect in caudal tangential migration. Additionally, mosaic analysis revealed that Cdh2ΔEC-expressing FBMNs are not influenced to migrate caudally by neighboring wild-type FBMNs due to a defect in collective cell migration. Taken together, our data suggest that Cadherin-2 plays an essential cell-autonomous role in mediating the collective migration of FBMNs.

Air toxics and birth defects: a Bayesian hierarchical approach to evaluate multiple pollutants and spina bifida.

PubMed

Swartz, Michael D; Cai, Yi; Chan, Wenyaw; Symanski, Elaine; Mitchell, Laura E; Danysh, Heather E; Langlois, Peter H; Lupo, Philip J

2015-02-09

While there is evidence that maternal exposure to benzene is associated with spina bifida in offspring, to our knowledge there have been no assessments to evaluate the role of multiple hazardous air pollutants (HAPs) simultaneously on the risk of this relatively common birth defect. In the current study, we evaluated the association between maternal exposure to HAPs identified by the United States Environmental Protection Agency (U.S. EPA) and spina bifida in offspring using hierarchical Bayesian modeling that includes Stochastic Search Variable Selection (SSVS). The Texas Birth Defects Registry provided data on spina bifida cases delivered between 1999 and 2004. The control group was a random sample of unaffected live births, frequency matched to cases on year of birth. Census tract-level estimates of annual HAP levels were obtained from the U.S. EPA's 1999 Assessment System for Population Exposure Nationwide. Using the distribution among controls, exposure was categorized as high exposure (>95(th) percentile), medium exposure (5(th)-95(th) percentile), and low exposure (<5(th) percentile, reference). We used hierarchical Bayesian logistic regression models with SSVS to evaluate the association between HAPs and spina bifida by computing an odds ratio (OR) for each HAP using the posterior mean, and a 95% credible interval (CI) using the 2.5(th) and 97.5(th) quantiles of the posterior samples. Based on previous assessments, any pollutant with a Bayes factor greater than 1 was selected for inclusion in a final model. Twenty-five HAPs were selected in the final analysis to represent "bins" of highly correlated HAPs (ρ > 0.80). We identified two out of 25 HAPs with a Bayes factor greater than 1: quinoline (ORhigh = 2.06, 95% CI: 1.11-3.87, Bayes factor = 1.01) and trichloroethylene (ORmedium = 2.00, 95% CI: 1.14-3.61, Bayes factor = 3.79). Overall there is evidence that quinoline and trichloroethylene may be significant contributors to the risk of spina bifida

From cause to care: Triple surveillance for better outcomes in birth defects and rare diseases.

PubMed

Botto, Lorenzo D; Mastroiacovo, Pierpaolo

2018-06-12

Better outcomes are a priority for all those who care about birth defects and rare diseases. Public health surveillance and epidemiologic data tracking historically have provided good data on disease occurrence but at most uncertain value in promoting better outcomes, be these in terms of supporting primary prevention or better care. We propose three enhancements to improve the value of surveillance. First, merge: eliminate the largely artificial separation between birth defects and rare diseases in surveillance. Second, expand the scope of surveillance to 'triple surveillance': include in surveillance the three components of the causal chain from primary cause (e.g., folic acid insufficiency) to disease occurrence (e.g., spina bifida prevalence) and further to health outcomes (e.g., mortality, morbidity). Third, integrate public health with clinical surveillance: streamline data collection (avoid 'recreational data collection') and use the data rapidly not only for epidemiologic assessment but also for evaluation and improvement of clinical care. Many countries have one or more of the elements of this framework already in place. Typically, however, they are not integrated, and work and data get wasted. Fundamentally, these enhancements require rethinking priorities, partnerships and data sharing policies. By reducing waste (e.g., activities leading to data being collected but not used) they will add value and probably decrease costs. Importantly, such systems can help make visible the health issues of a population and the benefits (or lack thereof) of interventions, and support quality improvement in prevention and delivery of care. Copyright © 2018. Published by Elsevier Masson SAS.

Folic acid supplementation and the occurrence of congenital heart defects, orofacial clefts, multiple births, and miscarriage.

PubMed

Bailey, Lynn B; Berry, Robert J

2005-05-01

Key research findings relative to the question of whether maternal use of folic acid before and during pregnancy reduces the chance that offspring will be born with a congenital heart defect or an orofacial cleft are reviewed in this paper. Observational studies in general support an association between maternal use of multivitamins containing folic acid and a reduction in the occurrence of congenital heart defects and orofacial clefts. Results from one randomized controlled trial (RCT) provide the strongest evidence that multivitamins prevent congenital heart defects, but this RCT did not provide evidence that multivitamins prevent orofacial clefts. In addition, most observational and interventional studies are not designed to detect an independent effect from folic acid. Early studies suggested that periconceptional multivitamin use was associated with an increased occurrence of both miscarriages and multiple births, which has resulted in a great deal of controversy about the safety of folic acid use during pregnancy. We also review reports that were designed to answer these questions with more definitive data. When more substantial evidence about the effect of periconceptional folic acid on the occurrence of congenital heart defects and orofacial clefts is reported, we will have additional support for promoting folic acid intervention programs. All women capable of becoming pregnant should continue to consume 400 mug/d of folic acid in addition to a healthy diet as advised.

A population-based analysis of mortality in patients with Turner syndrome and hypoplastic left heart syndrome using the Texas Birth Defects Registry.

PubMed

Lara, Diego A; Ethen, Mary K; Canfield, Mark A; Nembhard, Wendy N; Morris, Shaine A

2017-01-01

Hypoplastic left heart syndrome (HLHS) is strongly associated with Turner syndrome (TS); outcome data when these conditions coexist is sparse. We aimed to investigate long-term survival and causes of death in this population. The Texas Birth Defects Registry was queried for all live born infants with HLHS during 1999-2007. We used Kaplan-Meier and Cox regression analyses to compare survival among patients with HLHS with TS (HLHS/TS+) to patients who had HLHS without genetic disorders or extracardiac birth defects (HLHS/TS-). Of the 542 patients with HLHS, 11 had TS (2.0%), 71 had other extracardiac birth defects or genetic disorders, and 463 had neither. The median follow-up time was 4.2 y (interquartile range [IQR] 2.1-6.5). Comparing those with HLHS/TS+ to HLHS/TS-, 100% versus 35% were female (P < .001), and median birth weight was 2140 g (IQR 1809-2650) versus 3196 g (IQR 2807-3540, P < .001). Neonatal mortality was 36% in HLHS/TS+ versus 27% in HLHS/TS- (log rank = 0.431). Ten of the 11 TS+ patients died during the study period for cumulative mortality of 91% versus 50% (hazard ratio (HR) for TS+: 2.90, 95% CI 1.53-5.48). Six patients died prior to surgery, 5 underwent Stage 1 palliation (S1P), 3 died after S1P, 2 survived past S2P, and one of these died at age 19 mo. The underlying cause of death was listed as congenital heart disease on all the death certificates of HLHS/TS+ patients. In multivariable analysis controlling for low birth weight (<2500 g), TS remained associated with significantly increased cumulative mortality, although females without TS had higher mortality than males (HR for TS+ versus males: 2.42, 95% CI 1.24-4.73; HR for TS- females versus males: 1.41, 95% CI 1.08-1.83). TS with HLHS is associated with significant mortality. The increased mortality in females without documented TS calls to question if TS is undetected in a portion of females with HLHS. © 2016 Wiley Periodicals, Inc.

Maternal hypertension, medication use, and hypospadias in the National Birth Defects Prevention Study.

PubMed

Van Zutphen, Alissa R; Werler, Martha M; Browne, Marilyn M; Romitti, Paul A; Bell, Erin M; McNutt, Louise-Anne; Druschel, Charlotte M; Mitchell, Allen A

2014-02-01

To investigate whether antihypertensive classes and specific medications in early pregnancy increase the risk of severe hypospadias and to assess prior associations detected for late-treated and untreated hypertension in the National Birth Defects Prevention Study. Using telephone interviews from mothers of 2,131 children with severe hypospadias and 5,129 nonmalformed male control children for 1997-2009 births in a population-based case-control study, we estimated adjusted odds ratios (ORs) and 95% confidence intervals (CIs) with multivariable logistic regression. We adjusted P values to account for multiple testing. Forty-eight (2.3%) case and 70 (1.4%) control mothers reported early pregnancy antihypertensive treatment, 45 (2.1%) case and 31 (0.6%) control mothers reported late treatment, and 315 (14.8%) case and 394 (7.7%) control mothers reported untreated hypertension. Selective β-blockers, centrally acting agents, renin-angiotensin system-acting agents, diuretics, and specific medications, methyldopa and atenolol, were not associated with hypospadias. Nonselective β-blockers (adjusted OR 3.22, 95% CI 1.47-7.05) were associated with hypospadias; however, P values adjusted for multiple testing were not statistically significant. We confirmed prior findings for associations between hypospadias and untreated hypertension (adjusted OR 2.09, 95% CI 1.76-2.48) and late initiation of treatment (adjusted OR 3.98, 95% CI 2.41-6.55). The increased risks would translate to severe hypospadias prevalences of 11.5, 17.7, and 21.9 per 10,000 births for women with untreated hypertension, nonselective β-blocker use, and late initiation of treatment, respectively. Our study suggests a relationship between hypospadias and the severity of hypertension. II.

Perceived functional impact of abnormal facial appearance.

PubMed

Rankin, Marlene; Borah, Gregory L

2003-06-01

Functional facial deformities are usually described as those that impair respiration, eating, hearing, or speech. Yet facial scars and cutaneous deformities have a significant negative effect on social functionality that has been poorly documented in the scientific literature. Insurance companies are declining payments for reconstructive surgical procedures for facial deformities caused by congenital disabilities and after cancer or trauma operations that do not affect mechanical facial activity. The purpose of this study was to establish a large, sample-based evaluation of the perceived social functioning, interpersonal characteristics, and employability indices for a range of facial appearances (normal and abnormal). Adult volunteer evaluators (n = 210) provided their subjective perceptions based on facial physical appearance, and an analysis of the consequences of facial deformity on parameters of preferential treatment was performed. A two-group comparative research design rated the differences among 10 examples of digitally altered facial photographs of actual patients among various age and ethnic groups with "normal" and "abnormal" congenital deformities or posttrauma scars. Photographs of adult patients with observable congenital and posttraumatic deformities (abnormal) were digitally retouched to eliminate the stigmatic defects (normal). The normal and abnormal photographs of identical patients were evaluated by the large sample study group on nine parameters of social functioning, such as honesty, employability, attractiveness, and effectiveness, using a visual analogue rating scale. Patients with abnormal facial characteristics were rated as significantly less honest (p = 0.007), less employable (p = 0.001), less trustworthy (p = 0.01), less optimistic (p = 0.001), less effective (p = 0.02), less capable (p = 0.002), less intelligent (p = 0.03), less popular (p = 0.001), and less attractive (p = 0.001) than were the same patients with normal facial

Regulation of Facial Morphogenesis by Endothelin Signaling: Insights from Mice and Fish

PubMed Central

Clouthier, David E.; Garcia, Elvin; Schilling, Thomas F.

2010-01-01

Craniofacial morphogenesis is accomplished through a complex set of developmental events, most of which are initiated in neural crest cells within the pharyngeal arches. Local patterning cues from the surrounding environment induce gene expression within neural crest cells, leading to formation of a diverse set of skeletal elements. Endothelin-1 (Edn1) is one of the primary signals that establish the identities of neural crest cells within the mandibular portion of the first pharyngeal arch. Signaling through its cognate receptor, the endothelin-A receptor, is critical for patterning the ventral/distal portion of the arch (lower jaw) and also participates with Hox genes in patterning more posterior arches. Edn1/Ednra signaling is highly conserved between mouse and zebrafish, and genetic analyses in these two species have provided complementary insights into the patterning cues responsible for establishing the craniofacial complex as well as the genetic basis of facial birth defect syndromes. PMID:20684004

FastStats: Births -- Method of Delivery

MedlinePlus

... Accidents or Unintentional Injuries All Injuries Assault or Homicide Suicide and Self-Inflicted Injury Life Stages and Populations Age Groups Adolescent Health Child Health Infant Health Older Persons’ Health Births Birth Defects or ...

Differences in risk factors for 2nd and 3rd degree hypospadias in the National Birth Defects Prevention Study

PubMed Central

in 't Woud, Sander Groen; van Rooij, Iris A.L.M.; van Gelder, Marleen M.H.J.; Olney, Richard S.; Carmichael, Suzan L.; Roeleveld, Nel; Reefhuis, Jennita

2015-01-01

Background Hypospadias is a frequent birth defect with three phenotypic subtypes. With data from the National Birth Defects Prevention Study, a large, multi-state, population-based, case-control study, we compared risk factors for second and third degree hypospadias. Methods A wide variety of data on maternal and pregnancy-related risk factors for isolated second and third degree hypospadias was collected via computer-assisted telephone interviews to identify potential etiological differences between the two phenotypes. Logistic regression was used to calculate odds ratios including a random effect by study center. Results In total, 1547 second degree cases, 389 third degree cases, and 5183 male controls were included in our study. Third degree cases were more likely to have a non-Hispanic black or Asian/Pacific Islander mother, be delivered preterm, have a low birth weight, be small for gestational age, and be conceived with fertility treatments than second degree cases and controls. Associations with both second and third degree hypospadias were observed for maternal age, family history, parity, plurality, and hypertension during pregnancy. Risk estimates were generally higher for third degree hypospadias except for family history. Conclusions Most risk factors were associated with both or neither phenotype. Therefore, it is likely that the underlying mechanism is at least partly similar for both phenotypes. However, some associations were different between 2nd and 3rd degree hypospadias, and went in opposite directions for second and third degree hypospadias for Asian/Pacific Islander mothers. Effect estimates for subtypes of hypospadias may be over- or underestimated in studies without stratification by phenotype. PMID:25181604

Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry.

PubMed

Quintero-Rivera, Fabiola; Martinez-Agosto, Julian A

2013-08-01

Cat-Eye syndrome (CES), (OMIM 115470) also known as chromosome 22 partial tetrasomy or inverted duplicated 22q11, was first reported by Haab [1879] based on the primary features of eye coloboma and anal atresia. However, >60% of the patients lack these primary features. Here, we present a 9-month-old female who at birth was noted to have multiple defects, including facial asymmetry with asymmetric retrognathia, bilateral mandibular hypoplasia, branchial cleft sinus, right-sided muscular torticollis, esotropia, and an atretic right ear canal with low-to-moderate sensorineural hearing loss, bilateral preauricular ear tag/pits, and two skin tags on her left cheek. There were no signs of any colobomas or anal atresia. Hemifacial microsomia (HFM) was suspected clinically. Chromosome studies and FISH identified an extra marker originated from 22q11 consistent with CES, and this was confirmed by aCGH. This report expands the phenotypic variability of CES and includes partial tetrasomy of 22q11.1-q11.21 in the differential diagnosis of HFM. In addition, our case as well as the previous association of 22q11.2 deletions and duplications with facial asymmetry and features of HFM, supports the hypothesis that this chromosome region harbors genes important in the regulation of body plan symmetry, and in particular facial harmony. Copyright © 2013 Wiley Periodicals, Inc.

The Arterialized Facial Artery Musculo-Mucosal Island Flap for Post-Oncological Tongue Reconstruction.

PubMed

Moro, Alessandro; Saponaro, Gianmarco; Doneddu, Piero; Cervelli, Daniele; Pelo, Sandro; Gasparini, Giulio; Garagiola, Umberto; D'Amato, Giuseppe; Todaro, Mattia

2018-05-15

In 1992, Pribaz described the facial artery musculomucosal flap (FAMM), an axial musculomucosal flap based on the facial artery. The FAMM flap, a modification of the nasolabial and buccal mucosal flaps, is widely used in the reconstruction of defects in the oral cavity. Many modifications of this flap have been described in the literature. Here we aimed to explore the use of an arterialized tunnelized FAMM island flap (a-FAMMIF) for the reconstruction tongue defects after tumor resection. From January 2015 to December 2016, five cases of tongue cancer were selected for the use of arterialized FAMMIF flap to reconstruct defects after tumor resection. Reconstruction was successful in all cases, except one case of total flap necrosis; partial necrosis of the flap occurred in two patients, which were solved with medications. The authors consider the a-FAMMIF an unreliable flap in the reconstruction of tongue defects.The authors recommend avoiding tunneling and island modification when the vein is not included in the pedicle.

Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin.

PubMed

Happle, R

1987-04-01

A genetic concept is advanced to explain the origin of several sporadic syndromes characterized by a mosaic distribution of skin defects. It is postulated that these disorders are due to the action of a lethal gene surviving by mosaicism. The presence of the mutation in the zygote will lead to death of the embryo at an early stage of development. Cells bearing the mutation can survive only in a mosaic state, in close proximity with normal cells. The mosaic may arise either from a gametic half chromatid mutation or from an early somatic mutation. This concept of origin is proposed to apply to the Schimmelpenning-Feuerstein-Mims syndrome, the McCune-Albright syndrome, the Klippel-Trenaunay syndrome, the Sturge-Weber syndrome, and neurocutaneous melanosis. Moreover, this etiologic hypothesis may apply to two other birth defects that have recently been delineated, the Proteus syndrome (partial gigantism of hands or feet, hemihypertrophy, macrocephaly, linear papillomatous epidermal nevus, subcutaneous hemangiomas and lipomas, accelerated growth, and visceral anomalies), and the Delleman-Oorthuys syndrome (orbital cyst, porencephaly, periorbital appendages, and focal aplasia of the skin.

Risk factors for congenital diaphragmatic hernia in the Bogota birth defects surveillance and follow-up program, Colombia.

PubMed

García, Ana M; Machicado, S; Gracia, G; Zarante, I M

2016-03-01

The mortality rate for congenital diaphragmatic hernia (CDH) remains high and prevention efforts are limited by the lack of known risk factors. The aim of this study was to determine prevalence, risk factors, and neonatal results associated with CDH on a surveillance system hospital-based in Bogotá, Colombia. The data used in this study were obtained from The Bogota Birth Defects Surveillance and Follow-up Program (BBDSFP), between January 2001 and December 2013. With 386,419 births, there were 81 cases of CDH. A case-control methodology was conducted with 48 of the total cases of CDH and 192 controls for association analysis. The prevalence of CDH was 2.1 per 10,000 births. In the case-control analysis, risk factors found were maternal age ≥35 years (OR, 33.53; 95 % CI, 7.02-160.11), infants with CDH were more likely to be born before 37 weeks of gestation (OR, 5.57; 95 % CI, 2.05-15.14), to weigh less than 2500 g at birth (OR, 9.05; 95 % CI, 3.51-23.32), and be small for gestational age (OR, 5.72; 95 % CI, 2.18-14.99) with a high rate of death before hospital discharge in the CDH population (CDH: 38 % vs BBDSFP: <1 %; p < 0.001). The prevalence of CDH calculated was similar to the one reported in the literature. CDH is strongly associated with a high rate of death before hospital discharge and the risk factors found were maternal age ≥35 years, preterm birth, be small for gestational age, and have low weight at birth. These neonatal characteristics in developing countries would help to identify early CDH. Prevention efforts have been limited by the lack of known risk factors and established epidemiological profiles, especially in developing countries.

Comparison of Facial Nerve Paralysis in Adults and Children

PubMed Central

Cha, Chang Il; Hong, Chang Kee; Park, Moon Suh

2008-01-01

Purpose Facial nerve injury can occur in the regions ranging from the cerebral cortex to the motor end plate in the face, and from many causes including trauma, viral infection, and idiopathic factors. Facial nerve paralysis in children, however, may differ from that in adults. We, therefore, evaluated its etiology and recovery rate in children and adults. Materials and Methods We retrospectively evaluated the records of 975 patients, ranging in age from 0 to 88 years, who displayed facial palsy at Kyung Hee Medical Center between January 1986 and July 2005. Results The most frequent causes of facial palsy in adults were Bell's palsy (54.9%), infection (26.8%), trauma (5.9%), iatrogenic (2.0%), and tumors (1.8%), whereas the most frequent causes of facial palsy in children were Bell's palsy (66.2%), infection (14.6%), trauma (13.4%), birth trauma (3.2%), and leukemia (1.3%). Recovery rates in adults were 91.4% for Bell's palsy, 89.0% for infection, and 64.3% for trauma, whereas recovery rates in children were 93.1% for Bell's palsy, 90.9% for infection, and 42.9% for trauma. Conclusion These results show that causes of facial palsy are similar in adults and children, and recovery rates in adults and children are not significantly different. PMID:18972592

Mapping disease at an approximated individual level using aggregate data: a case study of mapping New Hampshire birth defects.

PubMed

Shi, Xun; Miller, Stephanie; Mwenda, Kevin; Onda, Akikazu; Reese, Judy; Onega, Tracy; Gui, Jiang; Karagas, Margret; Demidenko, Eugene; Moeschler, John

2013-09-06

Limited by data availability, most disease maps in the literature are for relatively large and subjectively-defined areal units, which are subject to problems associated with polygon maps. High resolution maps based on objective spatial units are needed to more precisely detect associations between disease and environmental factors. We propose to use a Restricted and Controlled Monte Carlo (RCMC) process to disaggregate polygon-level location data to achieve mapping aggregate data at an approximated individual level. RCMC assigns a random point location to a polygon-level location, in which the randomization is restricted by the polygon and controlled by the background (e.g., population at risk). RCMC allows analytical processes designed for individual data to be applied, and generates high-resolution raster maps. We applied RCMC to the town-level birth defect data for New Hampshire and generated raster maps at the resolution of 100 m. Besides the map of significance of birth defect risk represented by p-value, the output also includes a map of spatial uncertainty and a map of hot spots. RCMC is an effective method to disaggregate aggregate data. An RCMC-based disease mapping maximizes the use of available spatial information, and explicitly estimates the spatial uncertainty resulting from aggregation.

Genetic Mutations, Birth Lengths, Weights and Head Circumferences of Children with IGF-I Receptor Defects. Comparison with other Congenital Defects in the GH/IGF-I axis.

PubMed

Essakow, Jenna Lee; Lauterpacht, Aharon; Lilos, Pearl; Kauli, Rivka; Laron, Zvi

2016-09-01

In recent years more and more genetic defects along the GHRH-GH-IGF-I axis have been reported. Mutations of the IGF-I receptor (R) are a rare abnormality of whom only the heterozygote progenies survive. To summarize, from the literature, data on birth length, weight and head circumference of neonates with IGF-I-R mutations, and to correlate the data with that of other types of mutations in the GH/IGF-I axis. Sixty seven neonates from 24 published articles were included and forty seven different mutations of the IGF-I (R) located on chromosome 15 have been identified. Mean (±SD) birth length (BL), available for 26, (10 M, 16F) neonates with a gestational age of 34-41weeks, was 44.2±4cm; one was premature (30cm at 31 weeks). There was a significant correlation between birth length and gestational age (GA) r=0.71 (p>.001). Mean birth weight (BW) of 41 neonates (18M, 23F) was 2388±743gr. Two premature neonates weighed 650gr and 950gr respectively. The BW correlated significantly with gestational age, (males: r=0.68; p=0.007, females: r=0.49; p=0.024). The BMI of 25 neonates ranged from 6 to 13. In 22 records marked microcephaly was ascertained or stated. Nine of 16 mothers were short (133 -148cm), m±SD = 150.5±7.3cm. Copyright© of YS Medical Media ltd.

[Resection of alae nasi malignant and nasolabial flaps pedicled facial prosthetics I period of repair].

PubMed

Tuo, Honglian; Yang, Guangdong; Ling, Dan; Ma, Gang

2010-04-01

To Discuss nasolabial pedicle flap in the repair of facial malignant asal nasi resection defect after clinical practicality and feasibility. Eleven cases of patients with asal nasi surgery in patients with malignant tumor resection. And in accordance with the characteristics of the blood supply of the nasolabial fold area and the size of design defects to be repaired region length. angle and size, design nasolabial flaps pedicled flap face. Go through the nasal alar defect repair defects. All patients were I wound healing, skins all survived, good blood circulation, good color and no obvious scar area. One year postoperative follow-up to 5 years without recurrence of the tumor, the effect of external nose satisfied with the cosmetic restoration. The nasolabial flap pedicled facial blood rich and easy to survive, organizations can provide sufficient volume to the repair of larger nasal defects, vascular pedicle length, the transfer of a flexible, easy to operate and no obvious scar area. Nasolabial pedicle flap to repair the face of larger asal nasi defects after resection of malignant tumors can choose the best skin.

Autologous Fat Used for Facial Filling Can Lead to Massive Cerebral Infarction Through Middle Cerebral Artery or Facial Intracranial Branches.

PubMed

Wang, Xian; Wu, Min; Zhou, Xing; Liu, Hengdeng; Zhang, Yongchao; Wang, Haiping

2018-05-31

Autologous fat injection is a procedure aimed at eliminating grave defects in the skin surface by subcutaneous injection of the patient's fatty tissue. Fat embolism is a rare but severe complication of this procedure, especially cerebral infarction. It is first reported by Thaunat in 2004. were presented to the hospital with sudden unconsciousness and left limb weakness in 24 hours after facial fat injection. Brain computed tomography and magnetic resonance imaging were performed immediately after admission. Frontal temporoparietal decompressive craniectomy plus multiple treatments scheduled for patients. Pictures and videos were taken during follow-up. Figures are edited with Adobe Photograph CS6. Patients were diagnosed with extensive cerebral infarction of the right hemisphere through the middle cerebral artery or facial-intracranial branches. Routine cosmetic procedures of facial fat injections could cause devastating and even fatal complications to patients. The small volume of fat grafts can be inserted through the internal carotid artery or go through the communicating branches between the facial artery and the intracranial artery into the brain.

Maternal Medication and Herbal Use and Risk for Hypospadias: Data from the National Birth Defects Prevention Study, 1997--2007

PubMed Central

Lind, Jennifer N.; Tinker, Sarah C.; Broussard, Cheryl S.; Reefhuis, Jennita; Carmichael, Suzan L.; Honein, Margaret A.; Olney, Richard S.; Parker, Samantha E.; Werler, Martha M.

2014-01-01

Purpose Investigate associations between maternal use of common medications and herbals during early pregnancy and risk for hypospadias in male infants. Methods We used data from the National Birth Defects Prevention Study, a multi-site, population-based, case-control study. We analyzed data from 1,537 infants with second-or third-degree isolated hypospadias and 4,314 liveborn male control infants without major birth defects, with estimated dates of delivery from 1997–2007. Exposure was reported use of prescription or over-the-counter medications or herbal products, from 1 month before to 4 months after conception. Adjusted odds ratios (aORs) and 95% confidence intervals (CI) were estimated using multivariable logistic regression, adjusting for maternal age, race/ethnicity, education, pre-pregnancy BMI, previous live births, maternal sub-fertility, study site, and year. Results We assessed 64 medication and 24 herbal components. Maternal uses of most components were not associated with an increased risk of hypospadias. Two new associations were observed for venlafaxine (aOR 2.4; 95% CI 1.0, 6.0) and progestin only oral contraceptives (aOR 1.9, 95% CI 1.1, 3.2). The previously reported association for clomiphene citrate was confirmed (aOR 1.9, 95% CI 1.2, 3.0). Numbers were relatively small for exposure to other specific patterns of fertility agents, but elevated aORs were observed for the most common of them. Conclusions Overall, findings were reassuring that hypospadias is not associated with most medication components examined in this analysis. New associations will need to be confirmed in other studies. Increased risks for hypospadias associated with various fertility agents raises the possibility of confounding by underlying subfertility. PMID:23620412

Analysis of Selected Maternal Exposures and Non-Syndromic Atrioventricular Septal Defects in the National Birth Defects Prevention Study, 1997–2005

PubMed Central

Patel, Sonali S.; Burns, Trudy L.; Botto, Lorenzo D.; Riehle-Colarusso, Tiffany J.; Lin, Angela E.; Shaw, Gary M.; Romitti, Paul A.

2015-01-01

Although the descriptive epidemiology of atrioventricular septal defects (AVSDs), a group of serious congenital heart defects (CHDs), has been recently reported, non-genetic risk factors have not been consistently identified. Using data (1997–2005) from the National Birth Defects Prevention Study, an ongoing multisite population-based case–control study, the association between selected non-genetic factors and non-syndromic AVSDs was examined. Data on periconceptional exposures to such factors were collected by telephone interview from 187 mothers of AVSD case infants and 6,703 mothers of unaffected infants. Adjusted odds ratios (aORs) and 95% confidence intervals (CIs) were estimated from logistic regression models. Mothers who reported cigarette smoking during the periconceptional period were more likely to have infants with AVSDs compared with non-smokers, independent of maternal age, periconceptional alcohol consumption, infant gestational age, family history of CHDs, and study site (aOR 1.5, 95% CI 1.1–2.4). The association was strongest in mothers who smoked more than 25 cigarettes/day. In addition, mothers with periconceptional passive smoke exposure were more likely to have infants with AVSDs than unexposed mothers, independent of maternal age, active periconceptional smoking, infant gestational age, and family history of CHDs (aOR 1.4, 95% CI 1.0–2.0). No associations were observed between AVSDs and maternal history of a urinary tract infection or pelvic inflammatory disease, maternal use of a wide variety of medications, maternal occupational exposure, parental drug use, or maternal alcohol consumption. If the results of this preliminary study can be replicated, minimizing maternal active and passive smoke exposure may decrease the incidence of AVSDs. PMID:22903798

A Multivariate Dynamic Spatial Factor Model for Speciated Pollutants and Adverse Birth Outcomes

DOE PAGES

Kaufeld, Kimberly Ann; Fuentes, Montse; Reich, Brian J.; ...

2017-09-11

Evidence suggests that exposure to elevated concentrations of air pollution during pregnancy is associated with increased risks of birth defects and other adverse birth outcomes. While current regulations put limits on total PM2.5 concentrations, there are many speciated pollutants within this size class that likely have distinct effects on perinatal health. However, due to correlations between these speciated pollutants, it can be difficult to decipher their effects in a model for birth outcomes. To combat this difficulty, we develop a multivariate spatio-temporal Bayesian model for speciated particulate matter using dynamic spatial factors. These spatial factors can then be interpolated tomore » the pregnant women’s homes to be used to model birth defects. The birth defect model allows the impact of pollutants to vary across different weeks of the pregnancy in order to identify susceptible periods. Here, the proposed methodology is illustrated using pollutant monitoring data from the Environmental Protection Agency and birth records from the National Birth Defect Prevention Study.« less

A Multivariate Dynamic Spatial Factor Model for Speciated Pollutants and Adverse Birth Outcomes

DOE Office of Scientific and Technical Information (OSTI.GOV)

Kaufeld, Kimberly Ann; Fuentes, Montse; Reich, Brian J.

Evidence suggests that exposure to elevated concentrations of air pollution during pregnancy is associated with increased risks of birth defects and other adverse birth outcomes. While current regulations put limits on total PM2.5 concentrations, there are many speciated pollutants within this size class that likely have distinct effects on perinatal health. However, due to correlations between these speciated pollutants, it can be difficult to decipher their effects in a model for birth outcomes. To combat this difficulty, we develop a multivariate spatio-temporal Bayesian model for speciated particulate matter using dynamic spatial factors. These spatial factors can then be interpolated tomore » the pregnant women’s homes to be used to model birth defects. The birth defect model allows the impact of pollutants to vary across different weeks of the pregnancy in order to identify susceptible periods. Here, the proposed methodology is illustrated using pollutant monitoring data from the Environmental Protection Agency and birth records from the National Birth Defect Prevention Study.« less

Tissue-Engineered Autologous Grafts for Facial Bone Reconstruction

PubMed Central

Bhumiratana, Sarindr; Bernhard, Jonathan C.; Alfi, David M.; Yeager, Keith; Eton, Ryan E.; Bova, Jonathan; Shah, Forum; Gimble, Jeffrey M.; Lopez, Mandi J.; Eisig, Sidney B.; Vunjak-Novakovic, Gordana

2016-01-01

Facial deformities require precise reconstruction of the appearance and function of the original tissue. The current standard of care—the use of bone harvested from another region in the body—has major limitations, including pain and comorbidities associated with surgery. We have engineered one of the most geometrically complex facial bones by using autologous stromal/stem cells, without bone morphogenic proteins, using native bovine bone matrix and a perfusion bioreactor for the growth and transport of living grafts. The ramus-condyle unit (RCU), the most eminent load-bearing bone in the skull, was reconstructed using an image-guided personalized approach in skeletally mature Yucatan minipigs (human-scale preclinical model). We used clinically approved decellularized bovine trabecular bone as a scaffolding material, and crafted it into an anatomically correct shape using image-guided micromilling, to fit the defect. Autologous adipose-derived stromal/stem cells were seeded into the scaffold and cultured in perfusion for 3 weeks in a specialized bioreactor to form immature bone tissue. Six months after implantation, the engineered grafts maintained their anatomical structure, integrated with native tissues, and generated greater volume of new bone and greater vascular infiltration than either non-seeded anatomical scaffolds or untreated defects. This translational study demonstrates feasibility of facial bone reconstruction using autologous, anatomically shaped, living grafts formed in vitro, and presents a platform for personalized bone tissue engineering. PMID:27306665

Evaluation of mailed pediatric buccal cytobrushes for use in a case-control study of birth defects.

PubMed

Gallagher, Margaret L; Sturchio, Cynthia; Smith, Ashley; Koontz, Deborah; Jenkins, Mary M; Honein, Margaret A; Rasmussen, Sonja A

2011-07-01

Buccal cell collection is a convenient DNA collection method; however, little attention has been given to the quality of DNA obtained from pediatric populations. The purpose of this study was to determine the effect of a modified cytobrush collection method on the yield and quality of infant buccal DNA collected as part of a population-based case-control study of birth defects. METHODS Cytobrushes were collected from infants, mothers, and fathers using a standard collection method in 1997 to 2003 and a modified protocol that allows air-drying of the cytobrushes after collection from 2003 to the present. Yield and quality of DNA from 1057 cytobrushes was assessed by quantitative PCR and short tandem repeat (STR) genotyping, respectively. RESULTS Air-dried cytobrushes from infants had higher median DNA yields (1300 ng) and STR completion rates (99.5%) than standard collection method cytobrushes (60 ng and 59.5%, respectively). A subset of DNA aliquots was genotyped for six single nucleotide polymorphisms (SNPs). Aliquots from both collection methods that passed the quality protocol (DNA concentration >1 ng/μl, and successful amplification of ≥1 STR) had high genotype completion rates (99-100%). The median DNA yield following whole genome amplification was more than twofold higher for air-dried than standard collection specimens (p < 0.001). CONCLUSION Yield and quality of buccal DNA collected from infants are improved by using a method that incorporates air-drying; however, DNA collected by both methods is suitable for genotyping if stringent quality control procedures are instituted. These findings may be helpful for future epidemiologic studies of birth defects and other adverse pediatric outcomes. Copyright © 2011 Wiley-Liss, Inc.

College women's reported behaviors and beliefs regarding fish and folic acid and their roles in birth defects.

PubMed

Burak, Lydia J; Costello, Pamela

2006-10-01

The purpose of the current study was to examine college women's beliefs and behaviors regarding birth defect prevention via folic acid intake and avoidance of fish with high mercury levels. We surveyed 313 college women and found that the majority of them reported eating fish despite their awareness that certain types of fish contained levels of mercury that are dangerous for women of childbearing age. We also found that the majority of the women did not comply with dietary guidelines for vegetable and legume consumption, and more than half of them did not take vitamin supplements that provide folic acid.

Shark island pedicle flap for repair of combined nasal ala-perialar defects.

PubMed

Cvancara, Joseph L; Wentzell, J Michael

2006-05-01

The combined nasal ala-perialar defect involving the concave intersection of the lateral nasal ala, nasal sidewall, cheek, and upper cutaneous lip is a problem for reconstructive surgery. During repair of combined cheek and nose defects, it is important not to blunt the alar facial sulcus. Defects involving these adjacent cosmetic units can be repaired by using combination procedures such as a flap/graft. Our purpose is to introduce, describe, and illustrate a one-stage flap repair descriptively named the "shark" island pedicle flap (SIPF). The SIPF was developed for a specific combined nasal ala-perialar defect. This reconstruction restores the natural contours, preserves cosmetic boundaries, and eliminates the need for pexing sutures and graft/flap combinations. The SIPF is an island pedicle flap with a superior arm that rotates 90 degrees into the wound. This arm repairs the alar portion of the defect. The advancing island pedicle flap repairs the alar facial sulcus. The 90 degrees rotation of the superior arm forces the alar portion of the flap to tilt 90 degrees relative to the remaining body of the flap, forming an inverted cone of redundancy. Natural re-creation of the lateral ala and the alar facial sulcus results. Illustrative examples with a descriptive technique are provided for the SIPF. A well-planned SIPF reconstruction can provide exceptional cosmetic and functional results. Cutaneous reconstructive surgeons will find the SIPF useful and reproducible in their armamentarium for single-stage aesthetic and functional repair of a specific combined lateral ala-adjacent perialar tissue defect.

Infants' Intermodal Perception of Canine ("Canis Familairis") Facial Expressions and Vocalizations

ERIC Educational Resources Information Center

Flom, Ross; Whipple, Heather; Hyde, Daniel

2009-01-01

From birth, human infants are able to perceive a wide range of intersensory relationships. The current experiment examined whether infants between 6 months and 24 months old perceive the intermodal relationship between aggressive and nonaggressive canine vocalizations (i.e., barks) and appropriate canine facial expressions. Infants simultaneously…

FastStats: Birth Defects or Congenital Anomalies

MedlinePlus

... Tweet Share Compartir Data are for the U.S. Mortality Number of infant deaths: 4,825 Infant deaths ... Data for 2016 [PDF – 1.1 MB] Infant Mortality Statistics from the 2013 Period Linked Birth/Infant ...

Maternal diet supplementation with methyl donors and increased parity affect the incidence of craniofacial defects in the offspring of twisted gastrulation mutant mice.

PubMed

Billington, Charles J; Schmidt, Brian; Zhang, Lei; Hodges, James S; Georgieff, Michael K; Schotta, Gunnar; Gopalakrishnan, Rajaram; Petryk, Anna

2013-03-01

Diets rich in methyl-donating compounds, including folate, can provide protection against neural tube defects, but their role in preventing craniofacial defects is less clear. Mice deficient in Twisted gastrulation (TWSG1), an extracellular modulator of bone morphogenetic protein signaling, manifest both midline facial defects and jaw defects, allowing study of the effects of methyl donors on various craniofacial defects in an experimentally tractable animal model. The goal of this study was to examine the effects of maternal dietary supplementation with methyl donors on the incidence and type of craniofacial defects among Twsg1(-/-) offspring. Nulliparous and primiparous female mice were fed an NIH31 standard diet (control) or a methyl donor supplemented (MDS) diet (folate, vitamin B-12, betaine, and choline). Observed defects in the pups were divided into those derived mostly from the first branchial arch (BA1) (micrognathia, agnathia, cleft palate) and midline facial defects in the holoprosencephaly spectrum (cyclopia, proboscis, and anterior truncation). In the first pregnancy, offspring of mice fed the MDS diet had lower incidence of BA1-derived defects (12.8% in MDS vs. 32.5% in control; P = 0.02) but similar incidence of midline facial defects (6.4% in MDS vs. 5.2% in control; P = 1.0). Increased maternal parity was independently associated with increased incidence of craniofacial defects after adjusting for diet (from 37.7 to 59.5% in control, P = 0.04 and from 19.1 to 45.3% in MDS, P = 0.045). In conclusion, methyl donor supplementation shows protective effects against jaw defects, but not midline facial defects, and increased parity can be a risk factor for some craniofacial defects.

Making birth defects 'preventable': pre-conceptional vitamin supplements and the politics of risk reduction.

PubMed

Al-Gailani, Salim

2014-09-01

Since the mid-1990s, governments and health organizations around the world have adopted policies designed to increase women's intake of the B-vitamin 'folic acid' before and during the first weeks of pregnancy. Building on initial clinical research in the United Kingdom, folic acid supplementation has been shown to lower the incidence of neural tube defects (NTDs). Recent debate has focused principally on the need for mandatory fortification of grain products with this vitamin. This article takes a longer view, tracing the transformation of folic acid from a routine prenatal supplement to reduce the risk of anaemia to a routine 'pre-conceptional' supplement to 'prevent' birth defects. Understood in the 1950s in relation to social problems of poverty and malnutrition, NTDs were by the end of the century more likely to be attributed to individual failings. This transition was closely associated with a second. Folic acid supplements were initially prescribed to 'high-risk' women who had previously borne a child with a NTD. By the mid-1990s, they were recommended for all women of childbearing age. The acceptance of folic acid as a 'risk-reducing drug' both relied upon and helped to advance the development of preventive and clinical practices concerned with women's health before pregnancy. Copyright © 2013 The Author. Published by Elsevier Ltd.. All rights reserved.

Maternal dietary intake of nitrates, nitrites and nitrosamines and selected birth defects in offspring: a case-control study

PubMed Central

2013-01-01

Background Dietary intake of nitrates, nitrites, and nitrosamines can increase the endogenous formation of N-nitroso compounds in the stomach. Results from animal studies suggest that these compounds might be teratogenic. We examined the relationship between maternal dietary intake of nitrates, nitrites (including plant and animal sources as separate groups), and nitrosamines and several types of birth defects in offspring. Methods For this population-based case–control study, data from a 58-question food frequency questionnaire, adapted from the short Willett Food Frequency Questionnaire and administered as part of the National Birth Defects Prevention Study (NBDPS), were used to estimate daily intake of dietary nitrates, nitrites, and nitrosamines in a sample of 6544 mothers of infants with neural tube defects (NTD)s, oral clefts (OC)s, or limb deficiencies (LD)s and 6807 mothers of unaffected control infants. Total daily intake of these compounds was divided into quartiles based on the control mother distributions. Odds ratios (OR)s and 95% confidence intervals (CI)s were estimated using logistic regression; estimates were adjusted for maternal daily caloric intake, maternal race-ethnicity, education, dietary folate intake, high fat diet (> 30% of calories from fat), and state of residence. Results While some unadjusted ORs for NTDS had 95% (CI)s that excluded the null value, none remained significant after adjustment for covariates, and the effect sizes were small (adjusted odds ratios [aOR] <1.12). Similar results were found for OCs and LDs with the exception of animal nitrites and cleft lip with/without cleft palate (aORs and CIs for quartile 4 compared to quartile 1 =1.24; CI=1.05-1.48), animal nitrites and cleft lip (4th quartile aOR=1.32; CI=1.01-1.72), and total nitrite and intercalary LD (4th quartile aOR=4.70; CI=1.23-17.93). Conclusions Overall, odds of NTDs, OCs or LDs did not appear to be significantly associated with estimated dietary intake of

Maternal dietary intake of nitrates, nitrites and nitrosamines and selected birth defects in offspring: a case-control study.

PubMed

Huber, John C; Brender, Jean D; Zheng, Qi; Sharkey, Joseph R; Vuong, Ann M; Shinde, Mayura U; Griesenbeck, John S; Suarez, Lucina; Langlois, Peter H; Canfield, Mark A; Romitti, Paul A; Weyer, Peter J

2013-03-21

Dietary intake of nitrates, nitrites, and nitrosamines can increase the endogenous formation of N-nitroso compounds in the stomach. Results from animal studies suggest that these compounds might be teratogenic. We examined the relationship between maternal dietary intake of nitrates, nitrites (including plant and animal sources as separate groups), and nitrosamines and several types of birth defects in offspring. For this population-based case-control study, data from a 58-question food frequency questionnaire, adapted from the short Willett Food Frequency Questionnaire and administered as part of the National Birth Defects Prevention Study (NBDPS), were used to estimate daily intake of dietary nitrates, nitrites, and nitrosamines in a sample of 6544 mothers of infants with neural tube defects (NTD)s, oral clefts (OC)s, or limb deficiencies (LD)s and 6807 mothers of unaffected control infants. Total daily intake of these compounds was divided into quartiles based on the control mother distributions. Odds ratios (OR)s and 95% confidence intervals (CI)s were estimated using logistic regression; estimates were adjusted for maternal daily caloric intake, maternal race-ethnicity, education, dietary folate intake, high fat diet (>30% of calories from fat), and state of residence. While some unadjusted ORs for NTDS had 95% (CI)s that excluded the null value, none remained significant after adjustment for covariates, and the effect sizes were small (adjusted odds ratios [aOR]<1.12). Similar results were found for OCs and LDs with the exception of animal nitrites and cleft lip with/without cleft palate (aORs and CIs for quartile 4 compared to quartile 1 =1.24; CI=1.05-1.48), animal nitrites and cleft lip (4th quartile aOR=1.32; CI=1.01-1.72), and total nitrite and intercalary LD (4th quartile aOR=4.70; CI=1.23-17.93). Overall, odds of NTDs, OCs or LDs did not appear to be significantly associated with estimated dietary intake of nitrate, nitrite, and nitrosamines.

Amelia: A Multi-Center Descriptive Epidemiologic Study in a Large Dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and Overview of the Literature

PubMed Central

BERMEJO-SÁNCHEZ, EVA; CUEVAS, LOURDES; AMAR, EMMANUELLE; BAKKER, MARIAN K.; BIANCA, SEBASTIANO; BIANCHI, FABRIZIO; CANFIELD, MARK A.; CASTILLA, EDUARDO E.; CLEMENTI, MAURIZIO; COCCHI, GUIDO; FELDKAMP, MARCIA L.; LANDAU, DANIELLE; LEONCINI, EMANUELE; LI, ZHU; LOWRY, R. BRIAN; MASTROIACOVO, PIERPAOLO; MUTCHINICK, OSVALDO M.; RISSMANN, ANKE; RITVANEN, ANNUKKA; SCARANO, GIOACCHINO; SIFFEL, CSABA; SZABOVA, ELENA; MARTÍNEZ-FRÍAS, MARÍA-LUISA

2015-01-01

This study describes the epidemiology of congenital amelia (absence of limb/s), using the largest series of cases known to date. Data were gathered by 20 surveillance programs on congenital anomalies, all International Clearinghouse for Birth Defects Surveillance and Research members, from all continents but Africa, from 1968 to 2006, depending on the program. Reported clinical information on cases was thoroughly reviewed to identify those strictly meeting the definition of amelia. Those with amniotic bands or limb-body wall complex were excluded. The primary epidemiological analyses focused on isolated cases and those with multiple congenital anomalies (MCA). A total of 326 amelia cases were ascertained among 23,110,591 live births, stillbirths and (for some programs) elective terminations of pregnancy for fetal anomalies. The overall total prevalence was 1.41 per 100,000 (95% confidence interval: 1.26–1.57). Only China Beijing and Mexico RYVEMCE had total prevalences, which were significantly higher than this overall total prevalence. Some under-registration could influence the total prevalence in some programs. Liveborn cases represented 54.6% of total. Among monomelic cases (representing 65.2% of nonsyndromic amelia cases), both sides were equally involved, and the upper limbs (53.9%) were slightly more frequently affected. One of the most interesting findings was a higher prevalence of amelia among offspring of mothers younger than 20 years. Sixty-nine percent of the cases had MCA or syndromes. The most frequent defects associated with amelia were other types of musculoskeletal defects, intestinal, some renal and genital defects, oral clefts, defects of cardiac septa, and anencephaly. PMID:22002956

Facial Scar Revision: Understanding Facial Scar Treatment

MedlinePlus

... Contact Us Trust your face to a facial plastic surgeon Facial Scar Revision Understanding Facial Scar Treatment ... face like the eyes or lips. A facial plastic surgeon has many options for treating and improving ...

Preconceptional folic acid-containing supplement use in the National Birth Defects Prevention Study.

PubMed

Khodr, Zeina G; Lupo, Philip J; Agopian, A J; Canfield, Mark A; Case, Amy P; Carmichael, Suzan L; Mitchell, Laura E

2014-06-01

Despite public health campaigns encouraging women to take a daily folic acid supplement, the proportion of reproductive age women, in the United States, who comply with this recommendation is less than optimal. The objective of this analysis was to identify predictors of preconceptional folic acid-containing supplement use to define subgroups of women who may benefit from targeted folic acid campaigns. This study included 6570 mothers of live born infants from the control population of National Birth Defects Prevention Study (1997-2005). Logistic regression analyses were used to identify predictors of preconceptional folic acid supplementation. A classification and regression tree (CART) analysis was used to define subgroups of women with different patterns of preconceptional folic acid supplementation. Race/ethnicity, education, age at delivery, nativity, employment, income, number of dependents, smoking, and birth control use were significantly associated with preconceptional folic acid-containing supplement use. Based on a CART analysis, education, race/ethnicity, and age were the most distinguishing factors between women with different preconceptional supplementation patterns. Non-white women with <4 years of a college education were the least likely to use folic acid-containing supplements (11%). However, even in the most compliant subgroup (women with ≥4 years of college), only 60% of women supplemented with folic acid. These results demonstrate the need for continued efforts to increase folic acid supplementation among all reproductive aged women. However, the success of such efforts may be improved if maternal characteristics such as education, race/ethnicity, and age, are considered in the development of future interventions. © 2014 Wiley Periodicals, Inc.

Neurological, psychological and educational sequelae of low birth weight.

PubMed

Dunn, H G; Crichton, J U; Grunau, R V; McBurney, A K; McCormick, A Q; Robertson, A M; Schulzer, M

1980-01-01

In a prospective study of 501 infants of low birth weight (LBW) who mostly weighed 2,041 g (4 1/2 lb) or less, and of 203 control infants of full birth weight (FBW > 2,500 g), 335 LBW and 139 FBW children were followed beyond the age of 6 years and 6 months. The incidence of neurological defects was negatively correlated with birth weight, and the mean "global" IQ of different birth weight groups retained a direct relationship. While the relationship of birth weight to IQ gradually became less marked, the effect of social class was increasingly evident from the age of 2 years and 6 months. The preterm children whose birth weight was appropriate for gestational age (AGA) attained a slightly higher mean IQ and significantly better grade placement in the third school year than the children who were unduly light for their gestational age. Details of the neurological and ophthalmological defects are given, and the predictive significance of neonatal variables is analyzed.

Association between ratings of facial attractivess and patients' motivation for orthognathic surgery.

PubMed

Vargo, J K; Gladwin, M; Ngan, P

2003-02-01

To compare the judgments of facial esthetics, defects and treatment needs between laypersons and professionals (orthodontists and oral surgeons) as predictors of patient's motivation for orthognathic surgery. Two panels of expert and naïve raters were asked to evaluate photographs of orthognathic surgery patients for facial esthetics, defects and treatment needs. Results were correlated with patients' motivation for surgery. Fifty-seven patients (37 females and 20 males) with a mean age of 26.0 +/- 6.7 years were interviewed prior to orthognathic surgery treatment. Three color photographs of each patient were evaluated by a panel of 14 experts and panel of 18 laypersons. Each panel of raters were asked to evaluate the facial morphology, facial attractiveness and recommend surgical treatment (independent variables). The dependent variable was the patient's motivation for orthognathic surgery. Outcome measure--Reliability of raters were analyzed using an unweighted Kappa coefficient and a Cronbach alpha coefficient. Correlations and regression analyses were used to quantify the relationship between variables. Expert raters provided reliable ratings of certain morphological features such as excessive gingival display and classification of mandibular facial form and position. Based on the facial photographs both expert and naïve raters agreed on facial attractiveness of patients. The best predictors of patients' motivation for surgery were the naïve profile attractiveness rating and the patients' expected change in self-consciousness. Expert raters provide more reliable ratings on certain morphologic features. However, the layperson's profile attractiveness rating and the patients' expected change in self-consciousness were the best predictors for patients' motivation for surgery. These data suggest that patients' motives for treatment are not necessarily related to objectively determined need. Patients' decision to seek treatment was more correlated to laypersons

Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects.

PubMed

Yang, T; Li, X; Huang, Q; Li, L; Chai, Y; Sun, L; Wang, X; Zhu, Y; Wang, Z; Huang, Z; Li, Y; Wu, H

2013-01-01

Waardenburg syndrome (WS) is characterized by sensorineural hearing loss and pigmentary defects of the hair, skin, and iris. Heterozygous mutations of MITF and its transactivator gene PAX3 are associated with Waardenburg syndrome type II (WS2) and type I (WS1), respectively. Most patients with MITF or PAX3 mutations, however, show variable penetrance of WS-associated phenotypes even within families segregating the same mutation, possibly mediated by genetic background or specific modifiers. In this study, we reported a rare Waardenburg syndrome simplex family in which a pair of WS parents gave birth to a child with double heterozygous mutations of MITF and PAX3. Compared to his parents who carried a single mutation in either MITF or PAX3, this child showed increased penetrance of pigmentary defects including white forelock, white eyebrows and eyelashes, and patchy facial depigmentation. This observation suggested that the expression level of MITF is closely correlated to the penetrance of WS, and variants in transcription regulator genes of MITF may modify the relevant clinical phenotypes. © 2012 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd.

Reconstruction Techniques of Choice for the Facial Cosmetic Units.

PubMed

Russo, F; Linares, M; Iglesias, M E; Martínez-Amo, J L; Cabo, F; Tercedor, J; Costa-Vieira, R; Toledo-Pastrana, T; Ródenas, J M; Leis, V

2017-10-01

A broad range of skin flaps can be used to repair facial surgical defects after the excision of a tumor. The aim of our study was to develop a practical guideline covering the most useful skin grafts for each of the distinct facial cosmetic units. This was a multicenter study in which 10 dermatologists with extensive experience in reconstructive surgery chose their preferred technique for each cosmetic unit. The choice of flaps was based on personal experience, taking into account factors such as suitability of the reconstruction technique for the specific defect, the final cosmetic result, surgical difficulty, and risk of complications. Each dermatologist proposed 2 flaps in order of preference for each cosmetic subunit. A score of 10 was given to the first flap and a score of 5 to the second. The total score obtained for each of the options proposed by the participating dermatologists was used to draw up a list of the 3 best grafts for each site. There was notable unanimity of criteria among most of the dermatologists for reconstructive techniques such as the glabellar flap for defects of the medial canthus of the eye, the bilateral advancement flag flap or H flap for the forehead, the rotary door flap for the auricle of the ear, the Mustarde flap for the infraorbital cheek, the O-Z rotation flap for the scalp, the Tenzel flap for the lower eyelid, and the island flap for the upper lip. The results of this study will be useful as a practical guide to choosing the best reconstruction technique for each of the facial cosmetic units. Copyright © 2017 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

Estimated Maternal Pesticide Exposure from Drinking Water and Heart Defects in Offspring

PubMed Central

Kim, Jihye; Swartz, Michael D.; Langlois, Peter H.; Romitti, Paul A.; Weyer, Peter; Mitchell, Laura E.; Ramakrishnan, Anushuya; Malik, Sadia; Lupo, Philip J.; Feldkamp, Marcia L.; Meyer, Robert E.; Winston, Jennifer J.; Reefhuis, Jennita; Blossom, Sarah J.; Bell, Erin; Agopian, A. J.

2017-01-01

Our objective was to examine the relationship between estimated maternal exposure to pesticides in public drinking water and the risk of congenital heart defects (CHD). We used mixed-effects logistic regression to analyze data from 18,291 nonsyndromic cases with heart defects from the Texas Birth Defects Registry and 4414 randomly-selected controls delivered in Texas from 1999 through 2005. Water district-level pesticide exposure was estimated by linking each maternal residential address to the corresponding public water supply district’s measured atrazine levels. We repeated analyses among independent subjects from the National Birth Defects Prevention Study (NBDPS) (1620 nonsyndromic cases with heart defects and 1335 controls delivered from 1999 through 2005). No positive associations were observed between high versus low atrazine level and eight CHD subtypes or all included heart defects combined. These findings should be interpreted with caution, in light of potential misclassification and relatively large proportions of subjects with missing atrazine data. Thus, more consistent and complete monitoring and reporting of drinking water contaminants will aid in better understanding the relationships between pesticide water contaminants and birth defects. PMID:28786932

Estimated Maternal Pesticide Exposure from Drinking Water and Heart Defects in Offspring.

PubMed

Kim, Jihye; Swartz, Michael D; Langlois, Peter H; Romitti, Paul A; Weyer, Peter; Mitchell, Laura E; Luben, Thomas J; Ramakrishnan, Anushuya; Malik, Sadia; Lupo, Philip J; Feldkamp, Marcia L; Meyer, Robert E; Winston, Jennifer J; Reefhuis, Jennita; Blossom, Sarah J; Bell, Erin; Agopian, A J

2017-08-08

Our objective was to examine the relationship between estimated maternal exposure to pesticides in public drinking water and the risk of congenital heart defects (CHD). We used mixed-effects logistic regression to analyze data from 18,291 nonsyndromic cases with heart defects from the Texas Birth Defects Registry and 4414 randomly-selected controls delivered in Texas from 1999 through 2005. Water district-level pesticide exposure was estimated by linking each maternal residential address to the corresponding public water supply district's measured atrazine levels. We repeated analyses among independent subjects from the National Birth Defects Prevention Study (NBDPS) (1620 nonsyndromic cases with heart defects and 1335 controls delivered from 1999 through 2005). No positive associations were observed between high versus low atrazine level and eight CHD subtypes or all included heart defects combined. These findings should be interpreted with caution, in light of potential misclassification and relatively large proportions of subjects with missing atrazine data. Thus, more consistent and complete monitoring and reporting of drinking water contaminants will aid in better understanding the relationships between pesticide water contaminants and birth defects.

Vital Signs: Update on Zika Virus-Associated Birth Defects and Evaluation of All U.S. Infants with Congenital Zika Virus Exposure - U.S. Zika Pregnancy Registry, 2016.

PubMed

Reynolds, Megan R; Jones, Abbey M; Petersen, Emily E; Lee, Ellen H; Rice, Marion E; Bingham, Andrea; Ellington, Sascha R; Evert, Nicole; Reagan-Steiner, Sarah; Oduyebo, Titilope; Brown, Catherine M; Martin, Stacey; Ahmad, Nina; Bhatnagar, Julu; Macdonald, Jennifer; Gould, Carolyn; Fine, Anne D; Polen, Kara D; Lake-Burger, Heather; Hillard, Christina L; Hall, Noemi; Yazdy, Mahsa M; Slaughter, Karnesha; Sommer, Jamie N; Adamski, Alys; Raycraft, Meghan; Fleck-Derderian, Shannon; Gupta, Jyoti; Newsome, Kimberly; Baez-Santiago, Madelyn; Slavinski, Sally; White, Jennifer L; Moore, Cynthia A; Shapiro-Mendoza, Carrie K; Petersen, Lyle; Boyle, Coleen; Jamieson, Denise J; Meaney-Delman, Dana; Honein, Margaret A

2017-04-07

In collaboration with state, tribal, local, and territorial health departments, CDC established the U.S. Zika Pregnancy Registry (USZPR) in early 2016 to monitor pregnant women with laboratory evidence of possible recent Zika virus infection and their infants. This report includes an analysis of completed pregnancies (which include live births and pregnancy losses, regardless of gestational age) in the 50 U.S. states and the District of Columbia (DC) with laboratory evidence of possible recent Zika virus infection reported to the USZPR from January 15 to December 27, 2016. Birth defects potentially associated with Zika virus infection during pregnancy include brain abnormalities and/or microcephaly, eye abnormalities, other consequences of central nervous system dysfunction, and neural tube defects and other early brain malformations. During the analysis period, 1,297 pregnant women in 44 states were reported to the USZPR. Zika virus-associated birth defects were reported for 51 (5%) of the 972 fetuses/infants from completed pregnancies with laboratory evidence of possible recent Zika virus infection (95% confidence interval [CI] = 4%-7%); the proportion was higher when restricted to pregnancies with laboratory-confirmed Zika virus infection (24/250 completed pregnancies [10%, 95% CI = 7%-14%]). Birth defects were reported in 15% (95% CI = 8%-26%) of fetuses/infants of completed pregnancies with confirmed Zika virus infection in the first trimester. Among 895 liveborn infants from pregnancies with possible recent Zika virus infection, postnatal neuroimaging was reported for 221 (25%), and Zika virus testing of at least one infant specimen was reported for 585 (65%). These findings highlight why pregnant women should avoid Zika virus exposure. Because the full clinical spectrum of congenital Zika virus infection is not yet known, all infants born to women with laboratory evidence of possible recent Zika virus infection during pregnancy should receive postnatal

Age Bias in Selection Decisions: The Role of Facial Appearance and Fitness Impressions

PubMed Central

Kaufmann, Michèle C.; Krings, Franciska; Zebrowitz, Leslie A.; Sczesny, Sabine

2017-01-01

This research examined the impact of facial age appearance on hiring, and impressions of fitness as the underlying mechanism. In two experimental hiring simulations, one with lay persons and one with Human Resource professionals, participants evaluated a chronologically older or younger candidate (as indicated by date of birth and age label) with either younger or older facial age appearance (as indicated by a photograph). In both studies, older-looking candidates received lower hireability ratings, due to less favorable fitness impressions. In addition, Study 1 showed that this age bias was reduced when the candidates provided counter-stereotypic information about their fitness. Study 2 showed that facial age-based discrimination is less prevalent in jobs with less costumer contact (e.g., back office). PMID:29276492

Limb reduction defects in the northern region of England 1985-92.

PubMed Central

Wright, M J; Newell, J N; Charlton, M E; Hey, E N; Donaldson, L J; Burn, J

1995-01-01

STUDY OBJECTIVE--To test the hypothesis that children born to mothers living near the sea are at increased risk of limb reduction defects. DESIGN--Descriptive data analysis. SETTING--The northern health region of England. PATIENTS--All children born between 1 January 1985 and 31 December 1992 in the northern region of England with isolated limb reduction defects. MAIN RESULTS--The birth prevalence of isolated limb reduction defects was not affected by the distance the mother lived from the sea. There was some evidence of space-time clustering, but there was no evidence of statistically significant variation in the occurrence of the condition with sex, time of birth (monthly or yearly), or county of birth. CONCLUSIONS--There is no evidence that children born to mothers living near the sea are at increased risk of limb reduction defects. PMID:7629469

Failures and complications in patients with birth defects restored with fixed dental prostheses and single crowns on teeth and/or implants.

PubMed

Krieger, Oliver; Matuliene, Giedre; Hüsler, Jürg; Salvi, Giovanni E; Pjetursson, Bjarni; Brägger, Urs

2009-08-01

To assess retrospectively, over at least 5 years, the incidences of technical and biological complications and failures in young adult patients with birth defects affecting the formation of teeth. All insurance cases with a birth defect that had crowns and fixed dental prostheses (FDPs) inserted more than 5 years ago were contacted and asked to participate in a reexamination. The median age of the patients was 19.3 years (range 16.6-24.7 years) when prosthetic treatment was initiated. Over the median observation period of 15.7 years (range 7.4-24.9 years) and considering the treatment needs at the reexamination, 19 out of 33 patients (58%) with reconstructions on teeth remained free from all failures or complications. From the patients with FDPs and single unit crowns (SCs) on implants followed over a median observation period of 8 years (range 4.6-15.3 years), eight out of 17% or 47% needed a retreatment or repair at some point due to a failure or a complication. From the three groups of patients, the cases with amelogenesis/dentinogenesis imperfecta demonstrated the highest failure and complication rates. In the cases with cleft lip, alveolus and palate (CLAP) or hypodontia/oligodontia, 71% of the SCs and 73% of the FDPs on teeth (FDP T) remained complication free over a median observation period of about 16 years. Sixty-two percent of the SCs and 64% of the FDPs on implants remained complication free over 8 years. Complications occurred earlier with implant-supported reconstructions. Because healthy, pristine teeth can be left unprepared, implant-supported SCs and FDPs are the treatment choice in young adults with birth defects resulting in tooth agenesis and in whom the edentulous spaces cannot be closed by means of orthodontic therapy. However, the trend for earlier and more frequent complications with implant-supported reconstructions in young adults, expecting many years of function with the reconstructions, has to be weighed against the benefits of keeping

[Effects of a Facial Muscle Exercise Program including Facial Massage for Patients with Facial Palsy].

PubMed

Choi, Hyoung Ju; Shin, Sung Hee

2016-08-01

The purpose of this study was to examine the effects of a facial muscle exercise program including facial massage on the facial muscle function, subjective symptoms related to paralysis and depression in patients with facial palsy. This study was a quasi-experimental research with a non-equivalent control group non-synchronized design. Participants were 70 patients with facial palsy (experimental group 35, control group 35). For the experimental group, the facial muscular exercise program including facial massage was performed 20 minutes a day, 3 times a week for two weeks. Data were analyzed using descriptive statistics, χ²-test, Fisher's exact test and independent sample t-test with the SPSS 18.0 program. Facial muscular function of the experimental group improved significantly compared to the control group. There was no significant difference in symptoms related to paralysis between the experimental group and control group. The level of depression in the experimental group was significantly lower than the control group. Results suggest that a facial muscle exercise program including facial massage is an effective nursing intervention to improve facial muscle function and decrease depression in patients with facial palsy.

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.

PubMed

El Chehadeh-Djebbar, Salima; Blair, Edward; Holder-Espinasse, Muriel; Moncla, Anne; Frances, Anne-Marie; Rio, Marlène; Debray, François-Guillaume; Rump, Patrick; Masurel-Paulet, Alice; Gigot, Nadège; Callier, Patrick; Duplomb, Laurence; Aral, Bernard; Huet, Frédéric; Thauvin-Robinet, Christel; Faivre, Laurence

2013-07-01

Cohen syndrome (CS) is a rare autosomal recessive condition caused by mutations and/or large rearrangements in the VPS13B gene. CS clinical features, including developmental delay, the typical facial gestalt, chorioretinal dystrophy (CRD) and neutropenia, are well described. CS diagnosis is generally raised after school age, when visual disturbances lead to CRD diagnosis and to VPS13B gene testing. This relatively late diagnosis precludes accurate genetic counselling. The aim of this study was to analyse the evolution of CS facial features in the early period of life, particularly before school age (6 years), to find clues for an earlier diagnosis. Photographs of 17 patients with molecularly confirmed CS were analysed, from birth to preschool age. By comparing their facial phenotype when growing, we show that there are no special facial characteristics before 1 year. However, between 2 and 6 years, CS children already share common facial features such as a short neck, a square face with micrognathia and full cheeks, a hypotonic facial appearance, epicanthic folds, long ears with an everted upper part of the auricle and/or a prominent lobe, a relatively short philtrum, a small and open mouth with downturned corners, a thick lower lip and abnormal eye shapes. These early transient facial features evolve to typical CS facial features with aging. These observations emphasize the importance of ophthalmological tests and neutrophil count in children in preschool age presenting with developmental delay, hypotonia and the facial features we described here, for an earlier CS diagnosis.

When Your Baby Has a Birth Defect

MedlinePlus

... as heart defects, cleft lip and palate, or cerebral palsy. Still, you may find yourself being both the ... the NICU Gene Therapy and Children Down Syndrome Cerebral Palsy Spina Bifida Prenatal Genetic Counseling What Is a ...

Monoscopic photogrammetry to obtain 3D models by a mobile device: a method for making facial prostheses.

PubMed

Salazar-Gamarra, Rodrigo; Seelaus, Rosemary; da Silva, Jorge Vicente Lopes; da Silva, Airton Moreira; Dib, Luciano Lauria

2016-05-25

The aim of this study is to present the development of a new technique to obtain 3D models using photogrammetry by a mobile device and free software, as a method for making digital facial impressions of patients with maxillofacial defects for the final purpose of 3D printing of facial prostheses. With the use of a mobile device, free software and a photo capture protocol, 2D captures of the anatomy of a patient with a facial defect were transformed into a 3D model. The resultant digital models were evaluated for visual and technical integrity. The technical process and resultant models were described and analyzed for technical and clinical usability. Generating 3D models to make digital face impressions was possible by the use of photogrammetry with photos taken by a mobile device. The facial anatomy of the patient was reproduced by a *.3dp and a *.stl file with no major irregularities. 3D printing was possible. An alternative method for capturing facial anatomy is possible using a mobile device for the purpose of obtaining and designing 3D models for facial rehabilitation. Further studies must be realized to compare 3D modeling among different techniques and systems. Free software and low cost equipment could be a feasible solution to obtain 3D models for making digital face impressions for maxillofacial prostheses, improving access for clinical centers that do not have high cost technology considered as a prior acquisition.

Prevention of birth defects in the pre-conception period: knowledge and practice of health care professionals (nurses and doctors) in a city of Southern Brazil

PubMed Central

Ferreira, Flávia Romariz; Russo Akiba, Heloisa Regina; Júnior, Edward Araujo; Figueiredo, Elisabeth Niglio; Abrahão, Anelise Riedel

2015-01-01

Background: Some congenital defects can be prevented in the pregestational stage. However, many health professionals are not prepared to provide counselling to couples regarding the same. Objective: This study aimed to assess the performance of doctors and nurses from a primary health-care unit in Florianopolis, Brazil, in preventing birth defects in the preconception period based on the recommendations of the Control Center of Disease Prevention. Materials and Methods: This descriptive cross sectional study was performed at a tertiary referral center. In this study, a semi-structured questionnaire was provided to 160 health professionals comprising doctors and nurses who were actively involved in providing primary health care in family health programs. The non-parametric Chi-square (χ2) test was used to analyse the data obtained through multiple choice questions. Results: Our results showed that although 81.9% of health professionals provided health-care assistance based on protocols, and only 46.2% professionals were aware of the presence of the topic in the protocol. Of the recommendations provided by the Control Center of Disease Prevention, the use of folic acid was the most prescribed. However, this prescription was not statistically different between nurses and doctors (P=0.85). Conclusion: This study identified the fragile nature in these professional’s knowledge about the prevention of birth defects in pre-conception period, as evidenced by the inconsistency in their responses. PMID:26644794

Making birth defects ‘preventable’: Pre-conceptional vitamin supplements and the politics of risk reduction☆

PubMed Central

Al-Gailani, Salim

2014-01-01

Since the mid-1990s, governments and health organizations around the world have adopted policies designed to increase women’s intake of the B-vitamin ‘folic acid’ before and during the first weeks of pregnancy. Building on initial clinical research in the United Kingdom, folic acid supplementation has been shown to lower the incidence of neural tube defects (NTDs). Recent debate has focused principally on the need for mandatory fortification of grain products with this vitamin. This article takes a longer view, tracing the transformation of folic acid from a routine prenatal supplement to reduce the risk of anaemia to a routine ‘pre-conceptional’ supplement to ‘prevent’ birth defects. Understood in the 1950s in relation to social problems of poverty and malnutrition, NTDs were by the end of the century more likely to be attributed to individual failings. This transition was closely associated with a second. Folic acid supplements were initially prescribed to ‘high-risk’ women who had previously borne a child with a NTD. By the mid-1990s, they were recommended for all women of childbearing age. The acceptance of folic acid as a ‘risk-reducing drug’ both relied upon and helped to advance the development of preventive and clinical practices concerned with women’s health before pregnancy. PMID:24268931

Vital Signs: Update on Zika Virus–Associated Birth Defects and Evaluation of All U.S. Infants with Congenital Zika Virus Exposure — U.S. Zika Pregnancy Registry, 2016

PubMed Central

Reynolds, Megan R.; Jones, Abbey M.; Petersen, Emily E.; Lee, Ellen H.; Rice, Marion E.; Bingham, Andrea; Ellington, Sascha R.; Evert, Nicole; Reagan-Steiner, Sarah; Oduyebo, Titilope; Brown, Catherine M.; Martin, Stacey; Ahmad, Nina; Bhatnagar, Julu; Macdonald, Jennifer; Gould, Carolyn; Fine, Anne D.; Polen, Kara D.; Lake-Burger, Heather; Hillard, Christina L.; Hall, Noemi; Yazdy, Mahsa M.; Slaughter, Karnesha; Sommer, Jamie N.; Adamski, Alys; Raycraft, Meghan; Fleck-Derderian, Shannon; Gupta, Jyoti; Newsome, Kimberly; Baez-Santiago, Madelyn; Slavinski, Sally; White, Jennifer L.; Moore, Cynthia A.; Shapiro-Mendoza, Carrie K.; Petersen, Lyle; Boyle, Coleen; Jamieson, Denise J.; Meaney-Delman, Dana; Adair, Jennifer; Ruberto, Irene; Haselow, Dirk T.; Im, Lucille; Jilek, Wendy; Lehmann, Monica S.; Olney, Richard; Porse, Charsey Cole; Ramstrom, Karen C.; Sowunmi, Similoluwa; Marzec, Natalie S.; Davis, Karin; Esponda-Morrison, Brenda; Fraser, M. Zachariah; O'Connor, Colleen Ann; Chung, Wendy; Richardson, Folasuyi; Sexton, Taylor; Stocks, Meredith E.; Woldai, Senait; Bundek, Amanda M.; Zambri, Jennifer; Goldberg, Cynthia; Eisenstein, Leah; Jackson, Jennifer; Kopit, Russell; Logue, Teresa; Mendoza, Raphael; Feldpausch, Amanda; Graham, Teri; Mann, Sylvia; Park, Sarah Y.; Carter, Kris Kelly; Potts, Emily J.; Stevens, Taryn; Simonson, Sean; Tonzel, Julius L.; Davis, Shari; Robinson, Sara; Hyun, Judie K.; Jenkins, Erin M.; Piccardi, Monika; Reid, Lawrence D.; Dunn, Julie E.; Higgins, Cathleen A.; Lin, Angela E.; Munshi, Gerlinde S.; Sandhu, Kayleigh; Scotland, Sarah J.; Soliva, Susan; Copeland, Glenn; Signs, Kimberly A.; Schiffman, Elizabeth; Byers, Paul; Hand, Sheryl; Mulgrew, Christine L.; Hamik, Jeff; Koirala, Samir; Ludwig, Lisa A.; Fredette, Carolyn Rose; Garafalo, Kristin; Worthington, Karen; Ropri, Abubakar; Ade, Julius Nchangtachi; Alaali, Zahra S.; Blog, Debra; Brunt, Scott J.; Bryant, Patrick; Burns, Amy E.; Bush, Steven; Carson, Kyle; Dean, Amy B.; Demarest, Valerie; Dufort, Elizabeth M.; Dupuis II, Alan P.; Sullivan-Frohm, Ann; Furuya, Andrea Marias; Fuschino, Meghan; Glaze, Viola H.; Griffin, Jacquelin; Hidalgo, Christina; Kulas, Karen E.; Lamson, Daryl M.; Lance, Lou Ann; Lee, William T.; Limberger, Ronald; Many, Patricia S.; Marchewka, Mary J.; Naizby, Brenda Elizabeth; Polfleit, MaryJo; Popowich, Michael; Rahman, Tabassum; Rem, Timothy; Robbins, Amy E.; Rowlands, Jemma V.; Seaver, Chantelle; Seward, Kimberley A.; Smith, Lou; Sohi, Inderbir; St. George, Kirsten; Souto, Maria I.; Wester, Rachel Elizabeth; Wong, Susan J.; Zeng, Li; Ackelsberg, Joel; Alex, Byron; Ballen, Vennus; Baumgartner, Jennifer; Bloch, Danielle; Clark, Sandhya; Conners, Erin; Cooper, Hannah; Davidson, Alexander; Dentinger, Catherine; Deocharan, Bisram; DeVito, Andrea; Fu, Jie; Hrusa, Gili; Iqbal, Maryam; Iwamoto, Martha; Jones, Lucretia; Kubinson, Hannah; Lash, Maura; Layton, Marcelle; Lee, Christopher T.; Liu, Dakai; McGibbon, Emily; Moy, Morgan; Ngai, Stephanie; Parton, Hilary B.; Peterson, Eric; Poy, Jose; Rakeman, Jennifer; Stoute, Alaina; Thompson, Corinne; Weiss, Don; Westheimer, Emily; Winters, Ann; Younis, Mohammad; Chan, Ronna L.; Cronquist, Laura Jean; Caton, Lisa; Lind, Leah; Nalluswami, Kumar; Perella, Dana; Brady, Diane S.; Gosciminski, Michael; McAuley, Patricia; Drociuk, Daniel; Leedom, Vinita; Witrick, Brian; Bollock, Jan; Hartel, Marie Bottomley; Lucinski, Loraine Swanson; McDonald, Morgan; Miller, Angela M.; Ponson, Tori Armand; Price, Laura; Nance, Amy E.; Peterson, Dallin; Cook, Sally; Martin, Brennan; Oltean, Hanna; Neary, Jillian; Baker, Melissa A.; Cummons, Kathy; Bryan, Katie; Arnold, Kathryn E.; Arth, Annelise C.; Bollweg, Brigid C.; Cragan, Janet D.; Dawson, April L.; Denison, Amy M.; Dziuban, Eric J.; Estetter, Lindsey; Silva-Flannery, Luciana; Free, Rebecca J.; Galang, Romeo R.; Gary, Joy; Goldsmith, Cynthia S.; Green, Caitlin; Hale, Gillian L.; Hayes, Heather M.; Igbinosa, Irogue; Keating, M. Kelly; Khan, Sumaiya; Kim, Shin Y.; Lampe, Margaret; Lewis, Amanda; Mai, Cara; Martines, Roosecelis Brasil; Miers, Brooke; Moore, Jazmyn; Muehlenbachs, Atis; Nahabedian, John; Panella, Amanda; Parihar, Vaunita; Patel, Mitesh M.; Rabeneck, D. Brett; Rasmussen, Sonja A.; Ritter, Jana M.; Rollin, Dominique C.; Sanders, Jeanine H.; Shieh, Wun-Ju; Simeone, Regina M.; Simon, Elizabeth L.; Sims, John R.; Spivey, Pamela J.; Talley-McRae, Helen; Tshiwala, Alphonse K.; VanMaldeghem, Kelley; Viens, Laura; Wainscott-Sargent, Anne; Williams, Tonya; Zaki, Sherif

2017-01-01

Background In collaboration with state, tribal, local, and territorial health departments, CDC established the U.S. Zika Pregnancy Registry (USZPR) in early 2016 to monitor pregnant women with laboratory evidence of possible recent Zika virus infection and their infants. Methods This report includes an analysis of completed pregnancies (which include live births and pregnancy losses, regardless of gestational age) in the 50 U.S. states and the District of Columbia (DC) with laboratory evidence of possible recent Zika virus infection reported to the USZPR from January 15 to December 27, 2016. Birth defects potentially associated with Zika virus infection during pregnancy include brain abnormalities and/or microcephaly, eye abnormalities, other consequences of central nervous system dysfunction, and neural tube defects and other early brain malformations. Results During the analysis period, 1,297 pregnant women in 44 states were reported to the USZPR. Zika virus–associated birth defects were reported for 51 (5%) of the 972 fetuses/infants from completed pregnancies with laboratory evidence of possible recent Zika virus infection (95% confidence interval [CI] = 4%–7%); the proportion was higher when restricted to pregnancies with laboratory-confirmed Zika virus infection (24/250 completed pregnancies [10%, 95% CI = 7%–14%]). Birth defects were reported in 15% (95% CI = 8%–26%) of fetuses/infants of completed pregnancies with confirmed Zika virus infection in the first trimester. Among 895 liveborn infants from pregnancies with possible recent Zika virus infection, postnatal neuroimaging was reported for 221 (25%), and Zika virus testing of at least one infant specimen was reported for 585 (65%). Conclusions and Implications for Public Health Practice These findings highlight why pregnant women should avoid Zika virus exposure. Because the full clinical spectrum of congenital Zika virus infection is not yet known, all infants born to women with laboratory

Down syndrome detection from facial photographs using machine learning techniques

NASA Astrophysics Data System (ADS)

Zhao, Qian; Rosenbaum, Kenneth; Sze, Raymond; Zand, Dina; Summar, Marshall; Linguraru, Marius George

2013-02-01

Down syndrome is the most commonly occurring chromosomal condition; one in every 691 babies in United States is born with it. Patients with Down syndrome have an increased risk for heart defects, respiratory and hearing problems and the early detection of the syndrome is fundamental for managing the disease. Clinically, facial appearance is an important indicator in diagnosing Down syndrome and it paves the way for computer-aided diagnosis based on facial image analysis. In this study, we propose a novel method to detect Down syndrome using photography for computer-assisted image-based facial dysmorphology. Geometric features based on facial anatomical landmarks, local texture features based on the Contourlet transform and local binary pattern are investigated to represent facial characteristics. Then a support vector machine classifier is used to discriminate normal and abnormal cases; accuracy, precision and recall are used to evaluate the method. The comparison among the geometric, local texture and combined features was performed using the leave-one-out validation. Our method achieved 97.92% accuracy with high precision and recall for the combined features; the detection results were higher than using only geometric or texture features. The promising results indicate that our method has the potential for automated assessment for Down syndrome from simple, noninvasive imaging data.

Hypospadias and maternal exposure to atrazine via drinking water in the National Birth Defects Prevention study.

PubMed

Winston, Jennifer J; Emch, Michael; Meyer, Robert E; Langlois, Peter; Weyer, Peter; Mosley, Bridget; Olshan, Andrew F; Band, Lawrence E; Luben, Thomas J

2016-07-15

Hypospadias is a relatively common birth defect affecting the male urinary tract. It has been suggested that exposure to endocrine disrupting chemicals might increase the risk of hypospadias by interrupting normal urethral development. Using data from the National Birth Defects Prevention Study, a population-based case-control study, we considered the role of maternal exposure to atrazine, a widely used herbicide and potential endocrine disruptor, via drinking water in the etiology of 2nd and 3rd degree hypospadias. We used data on 343 hypospadias cases and 1,422 male controls in North Carolina, Arkansas, Iowa, and Texas from 1998-2005. Using catchment level stream and groundwater contaminant models from the US Geological Survey, we estimated atrazine concentrations in public water supplies and in private wells. We assigned case and control mothers to public water supplies based on geocoded maternal address during the critical window of exposure for hypospadias (i.e., gestational weeks 6-16). Using maternal questionnaire data about water consumption and drinking water, we estimated a surrogate for total maternal consumption of atrazine via drinking water. We then included additional maternal covariates, including age, race/ethnicity, parity, and plurality, in logistic regression analyses to consider an association between atrazine and hypospadias. When controlling for maternal characteristics, any association between hypospadias and daily maternal atrazine exposure during the critical window of genitourinary development was found to be weak or null (odds ratio for atrazine in drinking water = 1. 00, 95 % CI = 0.97 to 1.03 per 0.04 μg/day increase; odds ratio for maternal consumption = 1.02, 95 % CI = 0.99 to 1.05; per 0.05 μg/day increase). While the association that we observed was weak, our results suggest that additional research into a possible association between atrazine and hypospadias occurrence, using a more sensitive exposure metric

[Facial palsy].

PubMed

Cavoy, R

2013-09-01

Facial palsy is a daily challenge for the clinicians. Determining whether facial nerve palsy is peripheral or central is a key step in the diagnosis. Central nervous lesions can give facial palsy which may be easily differentiated from peripheral palsy. The next question is the peripheral facial paralysis idiopathic or symptomatic. A good knowledge of anatomy of facial nerve is helpful. A structure approach is given to identify additional features that distinguish symptomatic facial palsy from idiopathic one. The main cause of peripheral facial palsies is idiopathic one, or Bell's palsy, which remains a diagnosis of exclusion. The most common cause of symptomatic peripheral facial palsy is Ramsay-Hunt syndrome. Early identification of symptomatic facial palsy is important because of often worst outcome and different management. The prognosis of Bell's palsy is on the whole favorable and is improved with a prompt tapering course of prednisone. In Ramsay-Hunt syndrome, an antiviral therapy is added along with prednisone. We also discussed of current treatment recommendations. We will review short and long term complications of peripheral facial palsy.

Sound-induced facial synkinesis following facial nerve paralysis.

PubMed

Ma, Ming-San; van der Hoeven, Johannes H; Nicolai, Jean-Philippe A; Meek, Marcel F

2009-08-01

Facial synkinesis (or synkinesia) (FS) occurs frequently after paresis or paralysis of the facial nerve and is in most cases due to aberrant regeneration of (branches of) the facial nerve. Patients suffer from inappropriate and involuntary synchronous facial muscle contractions. Here we describe two cases of sound-induced facial synkinesis (SFS) after facial nerve injury. As far as we know, this phenomenon has not been described in the English literature before. Patient A presented with right hemifacial palsy after lesion of the facial nerve due to skull base fracture. He reported involuntary muscle activity at the right corner of the mouth, specifically on hearing ringing keys. Patient B suffered from left hemifacial palsy following otitis media and developed involuntary muscle contraction in the facial musculature specifically on hearing clapping hands or a trumpet sound. Both patients were evaluated by means of video, audio and EMG analysis. Possible mechanisms in the pathophysiology of SFS are postulated and therapeutic options are discussed.

Customized Polymethyl Methacrylate Implants for the Reconstruction of Craniofacial Osseous Defects

PubMed Central

Fernandes da Silva, André Luis; Borba, Alexandre Meireles; Simão, Niverso Rodrigues; Pedro, Fábio Luis Miranda

2014-01-01

Craniofacial defects represent alterations in the anatomy and morphology of the cranial vault and the facial bones that potentially affect an individual's psychological and social well-being. Although a variety of techniques and restorative procedures have been described for the reconstruction of the affected area, polymethyl methacrylate (PMMA), a biocompatible and nondegradable acrylic resin-based implant, is the most widely used alloplastic material for such craniomaxillofacial reconstruction. The aim of this study was to describe a technique for aesthetic and functional preoperative customized reconstruction of craniofacial bone defects from a small series of patients offered by the Brazilian public health system. Three adult male patients attended consultation with chief complaints directly related to their individual craniofacial bone defects. With the aid of multislice computed tomography scans and subsequent fabrication of the three-dimensional craniofacial prototype, custom-made PMMA implants were fabricated preoperatively. Under general anesthesia, with access to the craniofacial defects with a coronal approach, the PMMA implants were adapted and fixated to the facial skeleton with titanium plates and screws. Postoperative evaluation demonstrated uneventful recovery and an excellent aesthetic result. Customized prefabricated PMMA implants manufactured over the rapid prototyping models proved to be effective and feasible. PMID:25093139

Customized polymethyl methacrylate implants for the reconstruction of craniofacial osseous defects.

PubMed

Fernandes da Silva, André Luis; Borba, Alexandre Meireles; Simão, Niverso Rodrigues; Pedro, Fábio Luis Miranda; Borges, Alvaro Henrique; Miloro, Michael

2014-01-01

Craniofacial defects represent alterations in the anatomy and morphology of the cranial vault and the facial bones that potentially affect an individual's psychological and social well-being. Although a variety of techniques and restorative procedures have been described for the reconstruction of the affected area, polymethyl methacrylate (PMMA), a biocompatible and nondegradable acrylic resin-based implant, is the most widely used alloplastic material for such craniomaxillofacial reconstruction. The aim of this study was to describe a technique for aesthetic and functional preoperative customized reconstruction of craniofacial bone defects from a small series of patients offered by the Brazilian public health system. Three adult male patients attended consultation with chief complaints directly related to their individual craniofacial bone defects. With the aid of multislice computed tomography scans and subsequent fabrication of the three-dimensional craniofacial prototype, custom-made PMMA implants were fabricated preoperatively. Under general anesthesia, with access to the craniofacial defects with a coronal approach, the PMMA implants were adapted and fixated to the facial skeleton with titanium plates and screws. Postoperative evaluation demonstrated uneventful recovery and an excellent aesthetic result. Customized prefabricated PMMA implants manufactured over the rapid prototyping models proved to be effective and feasible.

Facial dynamics and emotional expressions in facial aging treatments.

PubMed

Michaud, Thierry; Gassia, Véronique; Belhaouari, Lakhdar

2015-03-01

Facial expressions convey emotions that form the foundation of interpersonal relationships, and many of these emotions promote and regulate our social linkages. Hence, the facial aging symptomatological analysis and the treatment plan must of necessity include knowledge of the facial dynamics and the emotional expressions of the face. This approach aims to more closely meet patients' expectations of natural-looking results, by correcting age-related negative expressions while observing the emotional language of the face. This article will successively describe patients' expectations, the role of facial expressions in relational dynamics, the relationship between facial structures and facial expressions, and the way facial aging mimics negative expressions. Eventually, therapeutic implications for facial aging treatment will be addressed. © 2015 Wiley Periodicals, Inc.

A possible cranio-oro-facial phenotype in Cockayne syndrome

PubMed Central

2013-01-01

Background Cockayne Syndrome CS (Type A – CSA; or CS Type I OMIM #216400) (Type B – CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosensitivity and possibly orofacial and dental anomalies. Methods We studied the cranio-oro-facial status of a group of 17 CS patients from 15 families participating in the National Hospital Program for Clinical Research (PHRC) 2005 « Clinical and molecular study of Cockayne syndrome ». All patients were examined by two investigators using the Diagnosing Dental Defects Database (D[4]/phenodent) record form. Results Various oro-facial and dental anomalies were found: retrognathia; micrognathia; high- arched narrow palate; tooth crowding; hypodontia (missing permanent lateral incisor, second premolars or molars), screwdriver shaped incisors, microdontia, radiculomegaly, and enamel hypoplasia. Eruption was usually normal. Dental caries was associated with enamel defects, a high sugar/carbohydrate soft food diet, poor oral hygiene and dry mouth. Cephalometric analysis revealed mid-face hypoplasia, a small retroposed mandible and hypo-development of the skull. Conclusion CS patients may have associated oro-dental features, some of which may be more frequent in CS children – some of them being described for the first time in this paper (agenesis of second permanent molars and radiculomegaly). The high susceptibility to rampant caries is related to a combination of factors as well as enamel developmental defects. Specific attention to these anomalies may contribute to diagnosis and help plan management. PMID:23311583

Multiracial Facial Golden Ratio and Evaluation of Facial Appearance.

PubMed

Alam, Mohammad Khursheed; Mohd Noor, Nor Farid; Basri, Rehana; Yew, Tan Fo; Wen, Tay Hui

2015-01-01

This study aimed to investigate the association of facial proportion and its relation to the golden ratio with the evaluation of facial appearance among Malaysian population. This was a cross-sectional study with 286 randomly selected from Universiti Sains Malaysia (USM) Health Campus students (150 females and 136 males; 100 Malaysian Chinese, 100 Malaysian Malay and 86 Malaysian Indian), with the mean age of 21.54 ± 1.56 (Age range, 18-25). Facial indices obtained from direct facial measurements were used for the classification of facial shape into short, ideal and long. A validated structured questionnaire was used to assess subjects' evaluation of their own facial appearance. The mean facial indices of Malaysian Indian (MI), Malaysian Chinese (MC) and Malaysian Malay (MM) were 1.59 ± 0.19, 1.57 ± 0.25 and 1.54 ± 0.23 respectively. Only MC showed significant sexual dimorphism in facial index (P = 0.047; P<0.05) but no significant difference was found between races. Out of the 286 subjects, 49 (17.1%) were of ideal facial shape, 156 (54.5%) short and 81 (28.3%) long. The facial evaluation questionnaire showed that MC had the lowest satisfaction with mean score of 2.18 ± 0.97 for overall impression and 2.15 ± 1.04 for facial parts, compared to MM and MI, with mean score of 1.80 ± 0.97 and 1.64 ± 0.74 respectively for overall impression; 1.75 ± 0.95 and 1.70 ± 0.83 respectively for facial parts. 1) Only 17.1% of Malaysian facial proportion conformed to the golden ratio, with majority of the population having short face (54.5%); 2) Facial index did not depend significantly on races; 3) Significant sexual dimorphism was shown among Malaysian Chinese; 4) All three races are generally satisfied with their own facial appearance; 5) No significant association was found between golden ratio and facial evaluation score among Malaysian population.

Multiracial Facial Golden Ratio and Evaluation of Facial Appearance

PubMed Central

2015-01-01

This study aimed to investigate the association of facial proportion and its relation to the golden ratio with the evaluation of facial appearance among Malaysian population. This was a cross-sectional study with 286 randomly selected from Universiti Sains Malaysia (USM) Health Campus students (150 females and 136 males; 100 Malaysian Chinese, 100 Malaysian Malay and 86 Malaysian Indian), with the mean age of 21.54 ± 1.56 (Age range, 18–25). Facial indices obtained from direct facial measurements were used for the classification of facial shape into short, ideal and long. A validated structured questionnaire was used to assess subjects’ evaluation of their own facial appearance. The mean facial indices of Malaysian Indian (MI), Malaysian Chinese (MC) and Malaysian Malay (MM) were 1.59 ± 0.19, 1.57 ± 0.25 and 1.54 ± 0.23 respectively. Only MC showed significant sexual dimorphism in facial index (P = 0.047; P<0.05) but no significant difference was found between races. Out of the 286 subjects, 49 (17.1%) were of ideal facial shape, 156 (54.5%) short and 81 (28.3%) long. The facial evaluation questionnaire showed that MC had the lowest satisfaction with mean score of 2.18 ± 0.97 for overall impression and 2.15 ± 1.04 for facial parts, compared to MM and MI, with mean score of 1.80 ± 0.97 and 1.64 ± 0.74 respectively for overall impression; 1.75 ± 0.95 and 1.70 ± 0.83 respectively for facial parts. In conclusion: 1) Only 17.1% of Malaysian facial proportion conformed to the golden ratio, with majority of the population having short face (54.5%); 2) Facial index did not depend significantly on races; 3) Significant sexual dimorphism was shown among Malaysian Chinese; 4) All three races are generally satisfied with their own facial appearance; 5) No significant association was found between golden ratio and facial evaluation score among Malaysian population. PMID:26562655

Interstitial deletion of 8q21-->22 associated with minor anomalies, congenital heart defect, and Dandy-Walker variant.

PubMed

Donahue, M L; Ryan, R M

1995-03-13

We describe an infant with a deletion of 8q21-->22 who had distinct clinical manifestations including minor facial anomalies, a congenital heart defect, a Dandy-Walker variant, and mild to moderate developmental delay. Her facial characteristics included small, wide-spaced eyes, asymmetric bilateral epicanthal folds, a broad nasal bridge, a "carp-shaped" mouth, micrognathia, and prominent, apparently low-set ears. Three other reports describe children with larger proximal deletions of 8q that include 8q21 and q22. These four children all have similar facial appearance. Of the others reported, one had a congenital heart defect and one had craniosynostosis. This case, in addition to the previously noted three cases, helps in delineating a recognizable syndrome.

Data linkage between the National Birth Defects Prevention Study and the Occupational Information Network (O*NET) to assess workplace physical activity, sedentary behaviors, and emotional stressors during pregnancy.

PubMed

Lee, Laura J; Symanski, Elaine; Lupo, Philip J; Tinker, Sarah C; Razzaghi, Hilda; Pompeii, Lisa A; Hoyt, Adrienne T; Canfield, Mark A; Chan, Wenyaw

2016-02-01

Knowledge of the prevalence of work-related physical activities, sedentary behaviors, and emotional stressors among pregnant women is limited, and the extent to which these exposures vary by maternal characteristics remains unclear. Data on mothers of 6,817 infants without major birth defects, with estimated delivery during 1997 through 2009 who worked during pregnancy were obtained from the National Birth Defects Prevention Study. Information on multiple domains of occupational exposures was gathered by linking mother's primary job to the Occupational Information Network Version 9.0. The most frequent estimated physical activity associated with jobs during pregnancy was standing. Of 6,337 mothers, 31.0% reported jobs associated with standing for ≥75% of their time. There was significant variability in estimated occupational exposures by maternal age, race/ethnicity, and educational level. Our findings augment existing literature on occupational physical activities, sedentary behaviors, emotional stressors, and occupational health disparities during pregnancy. © 2015 Wiley Periodicals, Inc.

Data Linkage Between the National Birth Defects Prevention Study and the Occupational Information Network (O*NET) to Assess Workplace Physical Activity, Sedentary Behaviors, and Emotional Stressors During Pregnancy

PubMed Central

Lee, Laura J.; Symanski, Elaine; Lupo, Philip J.; Tinker, Sarah C.; Razzaghi, Hilda; Pompeii, Lisa A.; Hoyt, Adrienne T.; Canfield, Mark A.; Chan, Wenyaw

2016-01-01

Background Knowledge of the prevalence of work-related physical activities, sedentary behaviors, and emotional stressors among pregnant women is limited, and the extent to which these exposures vary by maternal characteristics remains unclear. Methods Data on mothers of 6,817 infants without major birth defects, with estimated delivery during 1997 through 2009 who worked during pregnancy were obtained from the ‘National Birth Defects Prevention Study. Information on multiple domains of occupational exposures was gathered by linking mother’s primary job to the Occupational Information Network Version 9.0. Results The most frequent estimated physical activity associated with jobs during pregnancy was standing. Of 6,337 mothers, 31.0% reported jobs associated with standing for ≥ 75% of their time. There was significant variability in estimated occupational exposures by maternal age, race/ethnicity, and educational level. Conclusions Our findings augment existing literature on occupational physical activities, sedentary behaviors, emotional stressors, and occupational health disparities during pregnancy. PMID:26681357

Traumatic facial nerve neuroma with facial palsy presenting in infancy.

PubMed

Clark, James H; Burger, Peter C; Boahene, Derek Kofi; Niparko, John K

2010-07-01

To describe the management of traumatic neuroma of the facial nerve in a child and literature review. Sixteen-month-old male subject. Radiological imaging and surgery. Facial nerve function. The patient presented at 16 months with a right facial palsy and was found to have a right facial nerve traumatic neuroma. A transmastoid, middle fossa resection of the right facial nerve lesion was undertaken with a successful facial nerve-to-hypoglossal nerve anastomosis. The facial palsy improved postoperatively. A traumatic neuroma should be considered in an infant who presents with facial palsy, even in the absence of an obvious history of trauma. The treatment of such lesion is complex in any age group but especially in young children. Symptoms, age, lesion size, growth rate, and facial nerve function determine the appropriate management.

Surgical management of facial nerve paralysis in the pediatric population.

PubMed

Barr, Jason S; Katz, Karin A; Hazen, Alexes

2011-11-01

In the pediatric patient population, both the pathology and the surgical managements of seventh cranial nerve palsy are complicated by the small size of the patients. Adding to the technical difficulty is the relative infrequency of the diagnosis, thus making it harder to become proficient in the management of the condition. The magnitude of the functional and aesthetic deficits these children manifest is significantly troubling to both the patient and the parents, which makes immediate attention, treatment, and functional restoration essential. A literature search using PubMed (http://www.pubmed.org) was undertaken to identify the current state of surgical management of pediatric facial paralysis. Although a multitude of techniques have been used, the ideal reconstructive procedure that addresses all of the functional and cosmetic needs of these children has yet to be described. Certainly, future research and innovative thinking will yield progressively better techniques that may, one day, emulate the native facial musculature with remarkable precision. The necessity for surgical intervention in children with facial nerve paralysis differs depending on many factors including the acute/chronic nature of the defect as well as the extent of functional and cosmetic damage. In this article, we review the surgical procedures that have been used to treat pediatric facial nerve paralysis and provide therapeutic facial reanimation. Copyright © 2011 Elsevier Inc. All rights reserved.

Congenital anomalies, prematurity, and low birth weight rates in relation to nuclear power plant proximity1).

PubMed

Mangones, Tania; Visintainer, Paul; Brumberg, Heather L

2013-07-01

The objective of this study was to determine whether maternal residential proximity to a nuclear reactor is associated with prevalence of certain birth defects. The New York State Vital Statistics and Congenital Malformations Registry data (1992-2001) were analyzed for five Hudson Valley counties in a 20-mile radius from the Indian Point nuclear reactor (Buchanan, NY, USA). Four zones of 5-mile increments were used to categorize proximity to the reactor. Data included congenital anomalies, low birth weight, and prematurity. Over the 10-year period, 702 malformations in 666 children were identified from a birth population of 328,124, yielding a regional rate of 2.1 major malformations per 1000 births. The prevalence of defects, low birth weight, and prematurity were not related to proximity to the nuclear power plant. These data did not substantiate an association between maternal proximity to the reactor and certain birth defects and provide baseline data for comparison in the event of a nuclear accident.

The Application of a Chemical Determination of N-Homocysteinylation Levels in Developing Mouse Embryos: Implication for Folate Responsive Birth Defects

PubMed Central

Fathe, Kristin; Person, Maria D.; Finnell, Richard H.

2014-01-01

Elevated homocysteine levels have long been associated with various disease states, including cardiovascular disease and birth defects, including neural tube defects (NTDs). One hypothesis regarding the strong correlation between these various disorders and high levels of homocysteine is that a reactive form of this small molecule can attach to mammalian proteins in a phenomenon known as homocysteinylation. These posttranslational modifications may become antigenic, or may even directly disrupt certain protein function. It remains to be determined whether dietary influences that can cause globally increased levels of circulating homocysteine confer negative effects maternally, or may otherwise negatively and materially impact the metabolic balance in developing embryos. Herein we present the application of a chemical method of determination of N-homocysteinylation to a set of neural tube closure stage mouse embryos and their mothers. We explore the uses of this newly-described technique to investigate levels of maternal and embryonic N-homocysteinylation using dietary manipulations of onecarbon metabolism with two known folate responsive neural tube defect mouse models. The data presented reveals that although diet appeared to have significant effects on the maternal metabolic status, those effects did not directly correlate to the embryonic folate or N-homocysteinylation status. Our studies indicate that maternal diet and embryonic genotype most significantly affected the embryonic developmental outcome. PMID:25620692

Spontaneous Facial Mimicry in Response to Dynamic Facial Expressions

ERIC Educational Resources Information Center

Sato, Wataru; Yoshikawa, Sakiko

2007-01-01

Based on previous neuroscientific evidence indicating activation of the mirror neuron system in response to dynamic facial actions, we hypothesized that facial mimicry would occur while subjects viewed dynamic facial expressions. To test this hypothesis, dynamic/static facial expressions of anger/happiness were presented using computer-morphing…

Lateral orbital propeller flap technique for reconstruction of the lower eyelid defect.

PubMed

Ding, J-P; Chen, B; Yao, J

2018-05-01

The lower eyelid, which has a unique anatomy and esthetic importance, is a common site of basal cell carcinoma. The reconstruction of the defect after the wide excision of the tumour is a special concern of many plastic surgeons. How to achieve the most satisfying effect through minimal invasive is important for patients. We successfully applied the lateral orbital propeller flap for one-stage reconstruction of a large lower eyelid defect after tumour resection. We consider that this flap can achieve better tissue mobilisation as it provides effective coverage of soft tissue defects and thus is especially useful for repairing facial defects.

Collagen scaffolds combined with collagen-binding ciliary neurotrophic factor facilitate facial nerve repair in mini-pigs.

PubMed

Lu, Chao; Meng, Danqing; Cao, Jiani; Xiao, Zhifeng; Cui, Yi; Fan, Jingya; Cui, Xiaolong; Chen, Bing; Yao, Yao; Zhang, Zhen; Ma, Jinling; Pan, Juli; Dai, Jianwu

2015-05-01

The preclinical studies using animal models play a very important role in the evaluation of facial nerve regeneration. Good models need to recapitulate the distance and time for axons to regenerate in humans. Compared with the most used rodent animals, the structure of facial nerve in mini-pigs shares more similarities with humans in microanatomy. To evaluate the feasibility of repairing facial nerve defects by collagen scaffolds combined with ciliary neurotrophic factor (CNTF), 10-mm-long gaps were made in the buccal branch of mini-pigs' facial nerve. Three months after surgery, electrophysiological assessment and histological examination were performed to evaluate facial nerve regeneration. Immunohistochemistry and transmission electron microscope observation showed that collagen scaffolds with collagen binding (CBD)-CNTF could promote better axon regeneration, Schwann cell migration, and remyelination at the site of implant device than using scaffolds alone. Electrophysiological assessment also showed higher recovery rate in the CNTF group. In summary, combination of collagen scaffolds and CBD-CNTF showed promising effects on facial nerve regeneration in mini-pig models. © 2014 Wiley Periodicals, Inc.

Impact of preterm birth on infant mortality for newborns with congenital heart defects: The EPICARD population-based cohort study.

PubMed

Laas, Enora; Lelong, Nathalie; Ancel, Pierre-Yves; Bonnet, Damien; Houyel, Lucile; Magny, Jean-François; Andrieu, Thibaut; Goffinet, François; Khoshnood, Babak

2017-05-15

Congenital heart defects (CHD) and preterm birth (PTB) are major causes of infant mortality. However, limited data exist on risk of mortality associated with PTB for newborns with CHD. Our objective was to assess impact of PTB on risk of infant mortality for newborns with CHD, while taking into account the role of associated anomalies and other potentially confounding factors. We used data on 2172 live births from a prospective population-based cohort study of CHD (the EPICARD Study) and compared neonatal, post-neonatal and overall infant mortality for infants born at <32, 32-34 and 35-36 weeks vs. those born at term (37-41 weeks). Preterm newborns had a 3.8-fold higher risk of infant death (17.9%) than term newborns (4.7%), RR 3.8, 95%CI 2.7-5.2; the risk associated with PTB was more than four-fold higher for neonatal (RR 4.3, 95% CI 2.9-6.6) and three-fold higher for post-neonatal deaths (RR 3.0, 95% CI 1.7-5.2). Survival analysis showed that newborns <35 weeks had a higher risk of mortality, which decreased but persisted after exclusion of associated anomalies and adjustment for potential confounders. Preterm birth is associated with an approximately four-fold higher risk of infant mortality for newborns with CHD. This excess risk appears to be mostly limited to newborns <35 weeks of gestation and is disproportionately due to early deaths.

Geometric Evaluation of the Effect of Prosthetic Rehabilitation on the Facial Appearance of Mandibulectomy Patients: A Preliminary Study.

PubMed

Aswehlee, Amel M; Elbashti, Mahmoud E; Hattori, Mariko; Sumita, Yuka I; Taniguchi, Hisashi

The purpose of this study was to geometrically evaluate the effect of prosthetic rehabilitation on the facial appearance of mandibulectomy patients. Facial scans (with and without prostheses) were performed for 16 mandibulectomy patients using a noncontact three-dimensional (3D) digitizer, and 3D images were reconstructed with the corresponding software. The 3D datasets were geometrically evaluated and compared using 3D evaluation software. The mean difference in absolute 3D deviations for full face scans was 382.2 μm. This method may be useful in evaluating the effect of conventional prostheses on the facial appearance of individuals with mandibulectomy defects.

Unilateral Multiple Facial Nerve Branch Reconstruction Using “End-to-side Loop Graft” Supercharged by Hypoglossal Nerve

PubMed Central

Sasaki, Ryo; Takeuchi, Yuichi; Watanabe, Yorikatsu; Niimi, Yosuke; Sakurai, Hiroyuki; Miyata, Mariko; Yamato, Masayuki

2014-01-01

Background: Extensive facial nerve defects between the facial nerve trunk and its branches can be clinically reconstructed by incorporating double innervation into an end-to-side loop graft technique. This study developed a new animal model to evaluate the technique’s ability to promote nerve regeneration. Methods: Rats were divided into the intact, nonsupercharge, and supercharge groups. Artificially created facial nerve defects were reconstructed with a nerve graft, which was end-to-end sutured from proximal facial nerve stump to the mandibular branch (nonsupercharge group), or with the graft of which other end was end-to-side sutured to the hypoglossal nerve (supercharge group). And they were evaluated after 30 weeks. Results: Axonal diameter was significantly larger in the supercharge group than in the nonsupercharge group for the buccal (3.78 ± 1.68 vs 3.16 ± 1.22; P < 0.0001) and marginal mandibular branches (3.97 ± 2.31 vs 3.46 ± 1.57; P < 0.0001), but the diameter was significantly larger in the intact group for all branches except the temporal branch. In the supercharge group, compound muscle action potential amplitude was significantly higher than in the nonsupercharge group (4.18 ± 1.49 mV vs 1.87 ± 0.37 mV; P < 0.0001) and similar to that in the intact group (4.11 ± 0.68 mV). Retrograde labeling showed that the mimetic muscles were double-innervated by facial and hypoglossal nerve nuclei in the supercharge group. Conclusions: Multiple facial nerve branch reconstruction with an end-to-side loop graft was able to achieve axonal distribution. Additionally, axonal supercharge from the hypoglossal nerve significantly improved outcomes. PMID:25426357

Restoration of facial symmetry in a patient with bell palsy using a modified maxillary complete denture: a case report.

PubMed

Bagchi, Gautam; Nath, Dilip Kumar

2012-01-01

Permanent facial paralysis can be devastating for a patient. Modern society's emphasis on appearance and physical beauty contributes to this problem and often leads to isolation of patients embarrassed by their appearance. Lagophthalmos with ocular exposure, loss of oral competence with resultant drooling, alar collapse with nasal airway obstruction, and difficulties with mastication and speech production are all potential consequences of facial paralysis. Affected patients are confronted with both a cosmetic defect and the functional deficits associated with loss of facial nerve function. In this case history report, a modified maxillary complete denture permitted a patient with Bell palsy to carry on daily activities with minimal facial distortion, pain, speech difficulty, and associated emotional trauma.

The role of great auricular-facial nerve neurorrhaphy in facial nerve damage.

PubMed

Sun, Yan; Liu, Limei; Han, Yuechen; Xu, Lei; Zhang, Daogong; Wang, Haibo

2015-01-01

Facial nerve is easy to be damaged, and there are many reconstructive methods for facial nerve reconstructive, such as facial nerve end to end anastomosis, the great auricular nerve graft, the sural nerve graft, or hypoglossal-facial nerve anastomosis. However, there is still little study about great auricular-facial nerve neurorrhaphy. The aim of the present study was to identify the role of great auricular-facial nerve neurorrhaphy and the mechanism. Rat models of facial nerve cut (FC), facial nerve end to end anastomosis (FF), facial-great auricular neurorrhaphy (FG), and control (Ctrl) were established. Apex nasi amesiality observation, electrophysiology and immunofluorescence assays were employed to investigate the function and mechanism. In apex nasi amesiality observation, it was found apex nasi amesiality of FG group was partly recovered. Additionally, electrophysiology and immunofluorescence assays revealed that facial-great auricular neurorrhaphy could transfer nerve impulse and express AChR which was better than facial nerve cut and worse than facial nerve end to end anastomosis. The present study indicated that great auricular-facial nerve neurorrhaphy is a substantial solution for facial lesion repair, as it is efficiently preventing facial muscles atrophy by generating neurotransmitter like ACh.

Facial approximation-from facial reconstruction synonym to face prediction paradigm.

PubMed

Stephan, Carl N

2015-05-01

Facial approximation was first proposed as a synonym for facial reconstruction in 1987 due to dissatisfaction with the connotations the latter label held. Since its debut, facial approximation's identity has morphed as anomalies in face prediction have accumulated. Now underpinned by differences in what problems are thought to count as legitimate, facial approximation can no longer be considered a synonym for, or subclass of, facial reconstruction. Instead, two competing paradigms of face prediction have emerged, namely: facial approximation and facial reconstruction. This paper shines a Kuhnian lens across the discipline of face prediction to comprehensively review these developments and outlines the distinguishing features between the two paradigms. © 2015 American Academy of Forensic Sciences.

Residential agricultural pesticide exposures and risks of selected birth defects among offspring in the San Joaquin Valley of California.

PubMed

Carmichael, Suzan L; Yang, Wei; Roberts, Eric; Kegley, Susan E; Brown, Timothy J; English, Paul B; Lammer, Edward J; Shaw, Gary M

2016-01-01

We examined associations of birth defects with residential proximity to commercial agricultural pesticide applications in California. Subjects included 367 cases representing five types of birth defects and 785 nonmalformed controls born 1997 to 2006. Associations with any versus no exposure to physicochemical groups of pesticides and specific chemicals were assessed using logistic regression adjusted for covariates. Overall, 46% of cases and 38% of controls were classified as exposed to pesticides within a 500 m radius of mother's address during a 3-month periconceptional window. We estimated odds ratios (ORs) for 85 groups and 95 chemicals with five or more exposed cases and control mothers. Ninety-five percent confidence intervals (CI) excluded 1.0 for 11 ORs for groups and 22 ORs for chemicals, ranging from 1.9 to 3.1 for groups and 1.8 to 4.9 for chemicals except for two that were <1 (noted below). For groups, these ORs were for anotia/microtia (n = 95 cases) and dichlorophenoxy acids/esters and neonicotinoids; anorectal atresia/stenosis (n = 77) and alcohol/ethers and organophosphates (these ORs were < 1.0); transverse limb deficiencies (n = 59) and dichlorophenoxy acids/esters, petroleum derivatives, and triazines; and craniosynostosis (n = 79) and alcohol/ethers, avermectins, neonicotinoids, and organophosphates. For chemicals, ORs were: anotia/microtia and five pesticides from the groups dichlorophenoxy acids/esters, copper-containing compounds, neonicotinoids, organophosphates, and triazines; transverse limb deficiency and six pesticides - oxyfluorfen and pesticides from the groups copper-containing compounds, 2,6-dinitroanilines, neonicotinoids, petroleum derivatives and polyalkyloxy compounds; craniosynostosis and 10 pesticides - oxyfluorfen and pesticides from the groups alcohol/ethers, avermectins, n-methyl-carbamates, neonicotinoids, ogranophosphates (two chemicals), polyalkyloxy compounds (two chemicals), and pyrethroids; and

Human Facial Expressions as Adaptations:Evolutionary Questions in Facial Expression Research

PubMed Central

SCHMIDT, KAREN L.; COHN, JEFFREY F.

2007-01-01

The importance of the face in social interaction and social intelligence is widely recognized in anthropology. Yet the adaptive functions of human facial expression remain largely unknown. An evolutionary model of human facial expression as behavioral adaptation can be constructed, given the current knowledge of the phenotypic variation, ecological contexts, and fitness consequences of facial behavior. Studies of facial expression are available, but results are not typically framed in an evolutionary perspective. This review identifies the relevant physical phenomena of facial expression and integrates the study of this behavior with the anthropological study of communication and sociality in general. Anthropological issues with relevance to the evolutionary study of facial expression include: facial expressions as coordinated, stereotyped behavioral phenotypes, the unique contexts and functions of different facial expressions, the relationship of facial expression to speech, the value of facial expressions as signals, and the relationship of facial expression to social intelligence in humans and in nonhuman primates. Human smiling is used as an example of adaptation, and testable hypotheses concerning the human smile, as well as other expressions, are proposed. PMID:11786989

Realistic facial animation generation based on facial expression mapping

NASA Astrophysics Data System (ADS)

Yu, Hui; Garrod, Oliver; Jack, Rachael; Schyns, Philippe

2014-01-01

Facial expressions reflect internal emotional states of a character or in response to social communications. Though much effort has been taken to generate realistic facial expressions, it still remains a challenging topic due to human being's sensitivity to subtle facial movements. In this paper, we present a method for facial animation generation, which reflects true facial muscle movements with high fidelity. An intermediate model space is introduced to transfer captured static AU peak frames based on FACS to the conformed target face. And then dynamic parameters derived using a psychophysics method is integrated to generate facial animation, which is assumed to represent natural correlation of multiple AUs. Finally, the animation sequence in the intermediate model space is mapped to the target face to produce final animation.

The role of great auricular-facial nerve neurorrhaphy in facial nerve damage

PubMed Central

Sun, Yan; Liu, Limei; Han, Yuechen; Xu, Lei; Zhang, Daogong; Wang, Haibo

2015-01-01

Background: Facial nerve is easy to be damaged, and there are many reconstructive methods for facial nerve reconstructive, such as facial nerve end to end anastomosis, the great auricular nerve graft, the sural nerve graft, or hypoglossal-facial nerve anastomosis. However, there is still little study about great auricular-facial nerve neurorrhaphy. The aim of the present study was to identify the role of great auricular-facial nerve neurorrhaphy and the mechanism. Methods: Rat models of facial nerve cut (FC), facial nerve end to end anastomosis (FF), facial-great auricular neurorrhaphy (FG), and control (Ctrl) were established. Apex nasi amesiality observation, electrophysiology and immunofluorescence assays were employed to investigate the function and mechanism. Results: In apex nasi amesiality observation, it was found apex nasi amesiality of FG group was partly recovered. Additionally, electrophysiology and immunofluorescence assays revealed that facial-great auricular neurorrhaphy could transfer nerve impulse and express AChR which was better than facial nerve cut and worse than facial nerve end to end anastomosis. Conclusions: The present study indicated that great auricular-facial nerve neurorrhaphy is a substantial solution for facial lesion repair, as it is efficiently preventing facial muscles atrophy by generating neurotransmitter like ACh. PMID:26550216

The App-Runx1 Region Is Critical for Birth Defects and Electrocardiographic Dysfunctions Observed in a Down Syndrome Mouse Model

PubMed Central

Raveau, Matthieu; Lignon, Jacques M.; Nalesso, Valérie; Duchon, Arnaud; Groner, Yoram; Sharp, Andrew J.; Dembele, Doulaye; Brault, Véronique; Hérault, Yann

2012-01-01

Down syndrome (DS) leads to complex phenotypes and is the main genetic cause of birth defects and heart diseases. The Ts65Dn DS mouse model is trisomic for the distal part of mouse chromosome 16 and displays similar features with post-natal lethality and cardiovascular defects. In order to better understand these defects, we defined electrocardiogram (ECG) with a precordial set-up, and we found conduction defects and modifications in wave shape, amplitudes, and durations in Ts65Dn mice. By using a genetic approach consisting of crossing Ts65Dn mice with Ms5Yah mice monosomic for the App-Runx1 genetic interval, we showed that the Ts65Dn viability and ECG were improved by this reduction of gene copy number. Whole-genome expression studies confirmed gene dosage effect in Ts65Dn, Ms5Yah, and Ts65Dn/Ms5Yah hearts and showed an overall perturbation of pathways connected to post-natal lethality (Coq7, Dyrk1a, F5, Gabpa, Hmgn1, Pde10a, Morc3, Slc5a3, and Vwf) and heart function (Tfb1m, Adam19, Slc8a1/Ncx1, and Rcan1). In addition cardiac connexins (Cx40, Cx43) and sodium channel sub-units (Scn5a, Scn1b, Scn10a) were found down-regulated in Ts65Dn atria with additional down-regulation of Cx40 in Ts65Dn ventricles and were likely contributing to conduction defects. All these data pinpoint new cardiac phenotypes in the Ts65Dn, mimicking aspects of human DS features and pathways altered in the mouse model. In addition they highlight the role of the App-Runx1 interval, including Sod1 and Tiam1, in the induction of post-natal lethality and of the cardiac conduction defects in Ts65Dn. These results might lead to new therapeutic strategies to improve the care of DS people. PMID:22693452

Easy facial analysis using the facial golden mask.

PubMed

Kim, Yong-Ha

2007-05-01

For over 2000 years, many artists and scientists have tried to understand or quantify the form of the perfect, ideal, or most beautiful face both in art and in vivo (life). A mathematical relationship has been consistently and repeatedly reported to be present in beautiful things. This particular relationship is the golden ratio. It is a mathematical ratio of 1.618:1 that seems to appear recurrently in beautiful things in nature as well as in other things that are seen as beautiful. Dr. Marquardt made the facial golden mask that contains and includes all of the one-dimensional and two-dimensional geometric golden elements formed from the golden ratio. The purpose of this study is to evaluate the usefulness of the golden facial mask. In 40 cases, the authors applied the facial golden mask to preoperative and postoperative photographs and scored each photograph on a 1 to 5 scale from the perspective of their personal aesthetic views. The score was lower when the facial deformity was severe, whereas it was higher when the face was attractive. Compared with the average scores of facial mask applied photographs and nonapplied photographs using a nonparametric test, statistical significance was not reached (P > 0.05). This implies that the facial golden mask may be used as an analytical tool. The facial golden mask is easy to apply, inexpensive, and relatively objective. Therefore, the authors introduce it as a useful facial analysis.

Reproducibility of the dynamics of facial expressions in unilateral facial palsy.

PubMed

Alagha, M A; Ju, X; Morley, S; Ayoub, A

2018-02-01

The aim of this study was to assess the reproducibility of non-verbal facial expressions in unilateral facial paralysis using dynamic four-dimensional (4D) imaging. The Di4D system was used to record five facial expressions of 20 adult patients. The system captured 60 three-dimensional (3D) images per second; each facial expression took 3-4seconds which was recorded in real time. Thus a set of 180 3D facial images was generated for each expression. The procedure was repeated after 30min to assess the reproducibility of the expressions. A mathematical facial mesh consisting of thousands of quasi-point 'vertices' was conformed to the face in order to determine the morphological characteristics in a comprehensive manner. The vertices were tracked throughout the sequence of the 180 images. Five key 3D facial frames from each sequence of images were analyzed. Comparisons were made between the first and second capture of each facial expression to assess the reproducibility of facial movements. Corresponding images were aligned using partial Procrustes analysis, and the root mean square distance between them was calculated and analyzed statistically (paired Student t-test, P<0.05). Facial expressions of lip purse, cheek puff, and raising of eyebrows were reproducible. Facial expressions of maximum smile and forceful eye closure were not reproducible. The limited coordination of various groups of facial muscles contributed to the lack of reproducibility of these facial expressions. 4D imaging is a useful clinical tool for the assessment of facial expressions. Copyright © 2017 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

21 CFR 101.79 - Health claims: Folate and neural tube defects.

Code of Federal Regulations, 2013 CFR

2013-04-01

... result in infant mortality or serious disability. The birth defects anencephaly and spina bifida are the... development. Because the neural tube forms and closes during early pregnancy, the defect may occur before a... pregnancy had a reduced risk of having a child with a neural tube defect. (Products containing this level of...

21 CFR 101.79 - Health claims: Folate and neural tube defects.

Code of Federal Regulations, 2014 CFR

2014-04-01

... result in infant mortality or serious disability. The birth defects anencephaly and spina bifida are the... development. Because the neural tube forms and closes during early pregnancy, the defect may occur before a... pregnancy had a reduced risk of having a child with a neural tube defect. (Products containing this level of...

21 CFR 101.79 - Health claims: Folate and neural tube defects.

Code of Federal Regulations, 2012 CFR

2012-04-01

... result in infant mortality or serious disability. The birth defects anencephaly and spina bifida are the... development. Because the neural tube forms and closes during early pregnancy, the defect may occur before a... pregnancy had a reduced risk of having a child with a neural tube defect. (Products containing this level of...

Facial peeling skin syndrome: a case report and a brief review.

PubMed

Janjua, Shahbaz Ahmad; Hussain, Ijaz; Khachemoune, Amor

2007-03-01

Peeling skin syndrome is an extremely rare genodermatosis of possible autosomal recessive inheritance, characterized by asymptomatic spontaneous exfoliation of the stratum corneum at a subcorneal or intracorneal level. It usually presents at birth or appears later in early childhood. The condition may be generalized or localized. Here we describe a case of localized continual skin peeling limited to the facial skin in a 6-month-old infant, with two other members of the family affected with the same condition. A few cases of localized skin peeling limited to the acral surfaces have been described in the literature, but a familial case of localized skin peeling limited to the facial skin has not been described before. We believe that our patient represents a new subtype of peeling skin syndrome, limited to the skin of the face.

Pediatric cancer risk in association with birth defects: A systematic review

PubMed Central

Padda, Hannah; Feng, Qianxi; Partap, Sonia; Fowler, Susan A.; Druley, Todd E.

2017-01-01

Background Many epidemiological studies have examined associations between birth defects (BDs) and pediatric malignancy over the past several decades. Our objective was to conduct a systematic literature review of studies reporting on this association. Methods We used librarian-designed searches of the PubMed Medline and Embase databases to identify primary research articles on pediatric neoplasms and BDs. English language articles from PubMed and Embase up to 10/12/2015, and in PubMed up to 5/12/2017 following an updated search, were eligible for inclusion if they reported primary epidemiological research results on associations between BDs and pediatric malignancies. Two reviewers coded each article based on the title and abstract to identify eligible articles that were abstracted using a structured form. Additional articles were identified through reference lists and other sources. Results were synthesized for pediatric cancers overall and for nine major pediatric cancer subtypes. Results A total of 14,778 article citations were identified, of which 80 met inclusion criteria. Pediatric cancer risk was increased in most studies in association with BDs overall with some notable specific findings, including increased risks for CNS tumors in association with CNS abnormalities and positive associations between rib anomalies and several pediatric cancer types. Conclusions Some children born with BDs may be at increased risk for specific pediatric malignancy types. This work provides a foundation for future investigations that are needed to clarify specific BD types predisposing toward malignancy and possible underlying causes of both BDs and malignancy. PMID:28749971

Genetics Home Reference: abdominal wall defect

MedlinePlus

... are two main types of abdominal wall defects: omphalocele and gastroschisis . Omphalocele is an opening in the center of the ... covering the exposed organs in gastroschisis. Fetuses with omphalocele may grow slowly before birth (intrauterine growth retardation) ...

The Prevalence of Cosmetic Facial Plastic Procedures among Facial Plastic Surgeons.

PubMed

Moayer, Roxana; Sand, Jordan P; Han, Albert; Nabili, Vishad; Keller, Gregory S

2018-04-01

This is the first study to report on the prevalence of cosmetic facial plastic surgery use among facial plastic surgeons. The aim of this study is to determine the frequency with which facial plastic surgeons have cosmetic procedures themselves. A secondary aim is to determine whether trends in usage of cosmetic facial procedures among facial plastic surgeons are similar to that of nonsurgeons. The study design was an anonymous, five-question, Internet survey distributed via email set in a single academic institution. Board-certified members of the American Academy of Facial Plastic and Reconstructive Surgery (AAFPRS) were included in this study. Self-reported history of cosmetic facial plastic surgery or minimally invasive procedures were recorded. The survey also queried participants for demographic data. A total of 216 members of the AAFPRS responded to the questionnaire. Ninety percent of respondents were male ( n  = 192) and 10.3% were female ( n  = 22). Thirty-three percent of respondents were aged 31 to 40 years ( n  = 70), 25% were aged 41 to 50 years ( n  = 53), 21.4% were aged 51 to 60 years ( n  = 46), and 20.5% were older than 60 years ( n  = 44). Thirty-six percent of respondents had a surgical cosmetic facial procedure and 75% has at least one minimally invasive cosmetic facial procedure. Facial plastic surgeons are frequent users of cosmetic facial plastic surgery. This finding may be due to access, knowledge base, values, or attitudes. By better understanding surgeon attitudes toward facial plastic surgery, we can improve communication with patients and delivery of care. This study is a first step in understanding use of facial plastic procedures among facial plastic surgeons. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Validation of birth outcomes from the Society for Assisted Reproductive Technology Clinic Outcome Reporting System (SART CORS): population-based analysis from the Massachusetts Outcome Study of Assisted Reproductive Technology (MOSART).

PubMed

Stern, Judy E; Gopal, Daksha; Liberman, Rebecca F; Anderka, Marlene; Kotelchuck, Milton; Luke, Barbara

2016-09-01

To assess the validity of outcome data reported to the Society for Assisted Reproductive Technology Clinic Outcome Reporting System (SART CORS) compared with data from vital records and the birth defects registry in Massachusetts. Longitudinal cohort. Not applicable. A total of 342,035 live births and fetal deaths from Massachusetts mothers giving birth in the state from July 1, 2004, to December 31, 2008; 9,092 births and fetal deaths were from mothers who had conceived with the use of assisted reproductive technology (ART) and whose cycle data had been reported to the SART CORS. Not applicable. Percentage agreement between maternal race and ethnicity, delivery outcome (live birth or fetal death), plurality (singleton, twin, or triplet+), delivery date, and singleton birth weight reported in the SART CORS versus vital records; sensitivity and specificity for birth defects among singletons as reported in the SART CORS versus the Massachusetts Birth Defects Monitoring Program (BDMP). There was >95% agreement between the SART CORS and vital records for fields of maternal race/ethnicity, live birth/fetal death, and plurality; birth outcome date was within 1 day with 94.9% agreement and birth weight was within 100 g with 89.6% agreement. In contrast, sensitivity for report of any birth defect was 38.6%, with a range of 18.4%-50.0%, for specific birth defect categories. Although most SART CORS outcome fields are accurately reported, birth defect variables showed poor sensitivity compared with the gold standard data from the BDMP. We suggest that reporting of birth defects be discontinued. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Reconstruction of bony facial contour deficiencies with polymethylmethacrylate implants: case report

PubMed Central

ABDO FILHO, Ruy C. C.; OLIVEIRA, Thais M.; LOURENÇO, Natalino; GURGEL, Carla; ABDO, Ruy C.C.

2011-01-01

Facial trauma can be considered one of the most serious aggressions found in the medical centers due to the emotional consequences and the possibility of deformity. In craniofacial surgery, the use of autologous bone is still the first choice for reconstructing bony defects or irregularities. When there is a shortage of donor bone or a patient refuses an intracranial operation, alloplastic materials such as polymethylmethacrylate (PMMA) can be used. The PMMA prosthesis can be pre-fabricated, bringing advantages such as reduction of surgical time, easy technical handling and good esthetic results. This paper describes the procedures for rehabilitating a patient with PMMA implants in the region of the face, recovering the facial contours and esthetics of the patient. PMID:21952926

Assessment of health-related quality of life in Turkish patients with facial prostheses

PubMed Central

2013-01-01

Background Facial prostheses are intended to provide a non-operative rehabilitation for patients with acquired facial defects. By improving aesthetics and quality of life (QOL), this treatment involves reintegration of the patient into family and social life. The aim of this study was to evaluate the perception of QOL in adult patients with facial prostheses and to compare this perception with that of a control group. Methods The study participants consisted of 72 patients, who were divided into three equal-sized groups according to the type of prosthesis (OP- orbital prosthesis, AP- auricular prosthesis, NP - nasal prosthesis) and 24 healthy control participants without any congenital or acquired deformity of face or body. Clinical and socio-demographic data were gathered from each person’s medical chart. Participants completed the Turkish version of the World Health Organization Quality of Life Instrument, Short Form (WHOQOL-BREF). Descriptive statistics, independent sample t-tests, Pearson's chi-square test, ANOVA, ANCOVA, and Pearson correlation were used to analyse the data. Results Compared with the control participants, patients with NP scored lower on the all domains of QOL and all three patient groups had lower scores on overall QOL and its domains of physical and environmental health. Patients with OP reported significantly lower physical health scores than those with AP, while patients with NP reported significantly lower overall QOL and psychological health scores than those with AP. Female patients had lower environmental domain scores than did male patients. The patient’s age and income correlated with social relationships QOL, while the patient’s income and the age of facial prosthesis were correlated with environmental QOL. Conclusion Patients with facial prostheses had lower scores in overall QOL, physical and environmental health domains than the control participants. Socio-demographic and clinical characteristics such as age, gender, income

Interstitial deletion of 8q21{yields}22 associated with minor anomalies, congenital heart defect, and Dandy-Walker variant

DOE Office of Scientific and Technical Information (OSTI.GOV)

Donahue, M.L.; Ryan, R.M.

1995-03-13

We describe an infant with a deletion of 8q21{yields}22 who had distinct clinical manifestations including minor facial anomalies, a congenital heart defect, a Dandy-Walker variant, and mild to moderate developmental delay. Her facial characteristics included small, wide-spaced eyes, asymmetric bilateral epicanthal folds, a broad nasal bridge, a {open_quotes}carp-shaped{close_quotes} mouth, micrognathia, and prominent, apparently low-set ears. Three other reports describe children with larger proximal deletions of 8q that include 8q21 and q22. These four children all have similar facial appearance. Of the others reported, one had a congenital heart defect and one had craniosynostosis. This case, in addition to the previouslymore » noted three cases, helps in delineating a recognizable syndrome. 12 refs., 3 figs., 1 tab.« less

The use of polymethyl-methacrylate (Artecoll) as an adjunct to facial reconstruction

PubMed Central

Mok, David; Schwarz, Jorge

2004-01-01

BACKGROUND: Injectable polymethyl-methacrylate (PMMA) microspheres, or Artecoll, has been used for the last few years in aesthetic surgery as long-term tissue filler for the correction of wrinkles and for lip augmentation. This paper presents three cases of the use of PMMA microsphere injection for reconstructive patients with defects of varying etiologies. These cases provide examples of a novel adjunct to the repertoire of the reconstructive surgeon. OBJECTIVES: To evaluate the effectiveness (short- and long-term) of PMMA injection for the correction of small soft tissue defects of the face. METHODS: Three case histories are presented. They include the origin of the defect; previous reconstructions of the defect; and area, volume, timing and technical particularities of PMMA administration. RESULTS: All three cases showed improvement of the defect with the PMMA injection with respect to both objective evidence and patient satisfaction. The improvements can still be seen after several years. CONCLUSIONS: PMMA microsphere injection can be effectively used to correct selected small facial defects in reconstructive cases and the results are long lasting. PMID:24115873

A geometric morphometric study of regional differences in the ontogeny of the modern human facial skeleton.

PubMed

Vioarsdóttir, Una Strand; O'Higgins, Paul; Stringer, Chris

2002-09-01

This study examines interpopulation variations in the facial skeleton of 10 modern human populations and places these in an ontogenetic perspective. It aims to establish the extent to which the distinctive features of adult representatives of these populations are present in the early post natal period and to what extent population differences in ontogenetic scaling and allometric trajectories contribute to distinct facial forms. The analyses utilize configurations of facial landmarks and are carried out using geometric morphometric methods. The results of this study show that modern human populations can be distinguished based on facial shape alone, irrespective of age or sex, indicating the early presence of differences. Additionally, some populations have statistically distinct facial ontogenetic trajectories that lead to the development of further differences later in ontogeny. We conclude that population-specific facial morphologies develop principally through distinctions in facial shape probably already present at birth and further accentuated and modified to variable degrees during growth. These findings raise interesting questions regarding the plasticity of facial growth patterns in modern humans. Further, they have important implications in relation to the study of growth in the face of fossil hominins and in relation to the possibility of developing effective discriminant functions for the identification of population affinities of immature facial skeletal material. Such tools would be of value in archaeological, forensic and anthropological applications. The findings of this study underline the need to examine more deeply, and in more detail, the ontogenetic basis of other causes of craniometric variation, such as sexual dimorphism and hominin species differentiation.

Prefabricated neck expanded skin flap with the superficial temporal vessels for facial resurfacing.

PubMed

Lazzeri, Davide; Su, Weijie; Qian, Yunliang; Messmer, Caroline; Agostini, Tommaso; Spinelli, Giuseppe; Marcus, Jeffrey R; Levin, L Scott; Zenn, Micheal R; Zhang, Yi Xin

2013-05-01

The achievement of a normal-appearing face after surgical resurfacing remains an elusive goal. This is due in part to insufficient color matching, restoration of contours, and the persistence of visible scars. Flap prefabrication is a staged procedure that provides an independent axial blood supply to local expanded tissues. We describe a new reconstructive alternative with superior reconstructive surgical options for facial resurfacing that better matches damaged or discarded facial tissues. A superficial temporal fascial flap was harvested as the vascular supply of the prefabricated neck flap and located in a subcutaneous neck pocket over a tissue expander. After a 5-month period for expansion and maturation, the prefabricated skin flap was raised, islanded, and rotated to resurface the facial defect. Four patients with hemifacial postburn contracture and two patients affected by hemifacial vascular malformations aged 17 to 42 years (mean 29 years) were successfully treated with no major complication after a mean period of 15 months. Prefabricated neck-expanded skin flap demonstrated an excellent color and texture match with facial skin that surrounded the repair sites, and optimal aesthetic results were obtained. Importantly, facial expression was completely maintained due to thinness and pliability of the rotated skin. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Cumulative costs for the prosthetic reconstructions and maintenance in young adult patients with birth defects affecting the formation of teeth.

PubMed

Incici, Erol; Matuliene, Giedre; Hüsler, Jürg; Salvi, Giovanni E; Pjetursson, Bjarni; Brägger, Urs

2009-07-01

To assess retrospectively the cumulative costs for the long-term oral rehabilitation of patients with birth defects affecting the development of teeth. Patients with birth defects who had received fixed reconstructions on teeth and/or implants > or =5 years ago were asked to participate in a comprehensive clinical, radiographic and economic evaluation. From the 45 patients included, 18 were cases with a cleft lip and palate, five had amelogenesis/dentinogenesis imperfecta and 22 were cases with hypodontia/oligodontia. The initial costs for the first oral rehabilitation (before the age of 20) had been covered by the Swiss Insurance for Disability. The costs for the initial rehabilitation of the 45 cases amounted to 407,584 CHF (39% for laboratory fees). Linear regression analyses for the initial treatment costs per replaced tooth revealed the formula 731 CHF+(811 CHF x units) on teeth and 3369 CHF+(1183 CHF x units) for reconstructions on implants (P<.001). Fifty-eight percent of the patients with tooth-supported reconstructions remained free from failures/complications (median observation 15.7 years). Forty-seven percent of the patients with implant-supported reconstructions remained free from failures/complications (median observation 8 years). The long-term cumulative treatment costs for implant cases, however, were not statistically significantly different compared with cases reconstructed with tooth-supported fixed reconstructions. Twenty-seven percent of the initial treatment costs were needed to cover supportive periodontal therapy as well as the treatment of technical/biological complications and failures. Insurance companies should accept to cover implant-supported reconstructions because there is no need to prepare healthy teeth, fewer tooth units need to be replaced and the cumulative long-term costs seem to be similar compared with cases restored on teeth.

Paternal and joint parental occupational pesticide exposure and spina bifida in the National Birth Defects Prevention Study, 1997 to 2002.

PubMed

Pettigrew, Stacy M; Bell, Erin M; Van Zutphen, Alissa R; Rocheleau, Carissa M; Shaw, Gary M; Romitti, Paul A; Olshan, Andrew; Lupo, Philip J; Soim, Aida; Makelarski, Jennifer A; Michalski, Adrian M; Sanderson, Wayne

2016-11-01

Because of persistent concerns over the association between pesticides and spina bifida, we examined the role of paternal and combined parental occupational pesticide exposures in spina bifida in offspring using data from a large population-based study of birth defects. Occupational information from fathers of 291 spina bifida cases and 2745 unaffected live born control infants with estimated dates of delivery from 1997 to 2002 were collected by means of maternal report. Two expert industrial hygienists estimated exposure intensity and frequency to insecticides, herbicides, and fungicides. Multivariable logistic regression models were used to estimate adjusted odds ratios (aOR) and 95% confidence intervals (CI) for exposure to any pesticide and to any class of pesticide (yes/no; and by median), and exposure to combinations of pesticides (yes/no) and risk of spina bifida. Adjusted odds ratios were also estimated by parent exposed to pesticides (neither, mother only, father only, both parents). Joint parental occupational pesticide exposure was positively associated with spina bifida (aOR, 1.5; 95% CI, 0.9-2.4) when compared with infants with neither maternal nor paternal exposures; a similar association was not observed when only one parent was exposed. There was a suggested positive association between combined paternal insecticide and fungicide exposures and spina bifida (aOR, 1.5; 95% CI, 0.8-2.8), however, nearly all other aORs were close to unity. Overall, there was little evidence paternal occupational pesticide exposure was associated with spina bifida. However, the small numbers make it difficult to precisely evaluate the role of pesticide classes, individually and in combination. Birth Defects Research (Part A) 106:963-971, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

The Effects of Early Institutionalization on the Discrimination of Facial Expressions of Emotion in Young Children

ERIC Educational Resources Information Center

Jeon, Hana; Moulson, Margaret C.; Fox, Nathan; Zeanah, Charles; Nelson, Charles A., III

2010-01-01

The current study examined the effects of institutionalization on the discrimination of facial expressions of emotion in three groups of 42-month-old children. One group consisted of children abandoned at birth who were randomly assigned to Care-as-Usual (institutional care) following a baseline assessment. Another group consisted of children…

Facial neuropathy with imaging enhancement of the facial nerve: a case report

PubMed Central

Mumtaz, Sehreen; Jensen, Matthew B

2014-01-01

A young women developed unilateral facial neuropathy 2 weeks after a motor vehicle collision involving fractures of the skull and mandible. MRI showed contrast enhancement of the facial nerve. We review the literature describing facial neuropathy after trauma and facial nerve enhancement patterns with different causes of facial neuropathy. PMID:25574155

Measuring Facial Movement

ERIC Educational Resources Information Center

Ekman, Paul; Friesen, Wallace V.

1976-01-01

The Facial Action Code (FAC) was derived from an analysis of the anatomical basis of facial movement. The development of the method is explained, contrasting it to other methods of measuring facial behavior. An example of how facial behavior is measured is provided, and ideas about research applications are discussed. (Author)

What does magnetic resonance imaging add to the prenatal ultrasound diagnosis of facial clefts?

PubMed

Mailáth-Pokorny, M; Worda, C; Krampl-Bettelheim, E; Watzinger, F; Brugger, P C; Prayer, D

2010-10-01

Ultrasound is the modality of choice for prenatal detection of cleft lip and palate. Because its accuracy in detecting facial clefts, especially isolated clefts of the secondary palate, can be limited, magnetic resonance imaging (MRI) is used as an additional method for assessing the fetus. The aim of this study was to investigate the role of fetal MRI in the prenatal diagnosis of facial clefts. Thirty-four pregnant women with a mean gestational age of 26 (range, 19-34) weeks underwent in utero MRI, after ultrasound examination had identified either a facial cleft (n = 29) or another suspected malformation (micrognathia (n = 1), cardiac defect (n = 1), brain anomaly (n = 2) or diaphragmatic hernia (n = 1)). The facial cleft was classified postnatally and the diagnoses were compared with the previous ultrasound findings. There were 11 (32.4%) cases with cleft of the primary palate alone, 20 (58.8%) clefts of the primary and secondary palate and three (8.8%) isolated clefts of the secondary palate. In all cases the primary and secondary palate were visualized successfully with MRI. Ultrasound imaging could not detect five (14.7%) facial clefts and misclassified 15 (44.1%) facial clefts. The MRI classification correlated with the postnatal/postmortem diagnosis. In our hands MRI allows detailed prenatal evaluation of the primary and secondary palate. By demonstrating involvement of the palate, MRI provides better detection and classification of facial clefts than does ultrasound alone. Copyright © 2010 ISUOG. Published by John Wiley & Sons, Ltd.

Effect of a Facial Muscle Exercise Device on Facial Rejuvenation

PubMed Central

Hwang, Ui-jae; Kwon, Oh-yun; Jung, Sung-hoon; Ahn, Sun-hee; Gwak, Gyeong-tae

2018-01-01

Abstract Background The efficacy of facial muscle exercises (FMEs) for facial rejuvenation is controversial. In the majority of previous studies, nonquantitative assessment tools were used to assess the benefits of FMEs. Objectives This study examined the effectiveness of FMEs using a Pao (MTG, Nagoya, Japan) device to quantify facial rejuvenation. Methods Fifty females were asked to perform FMEs using a Pao device for 30 seconds twice a day for 8 weeks. Facial muscle thickness and cross-sectional area were measured sonographically. Facial surface distance, surface area, and volumes were determined using a laser scanning system before and after FME. Facial muscle thickness, cross-sectional area, midfacial surface distances, jawline surface distance, and lower facial surface area and volume were compared bilaterally before and after FME using a paired Student t test. Results The cross-sectional areas of the zygomaticus major and digastric muscles increased significantly (right: P < 0.001, left: P = 0.015), while the midfacial surface distances in the middle (right: P = 0.005, left: P = 0.047) and lower (right: P = 0.028, left: P = 0.019) planes as well as the jawline surface distances (right: P = 0.004, left: P = 0.003) decreased significantly after FME using the Pao device. The lower facial surface areas (right: P = 0.005, left: P = 0.006) and volumes (right: P = 0.001, left: P = 0.002) were also significantly reduced after FME using the Pao device. Conclusions FME using the Pao device can increase facial muscle thickness and cross-sectional area, thus contributing to facial rejuvenation. Level of Evidence: 4 PMID:29365050

Maternal residential proximity to waste sites and industrial facilities and conotruncal heart defects in offspring.

PubMed

Langlois, Peter H; Brender, Jean D; Suarez, Lucina; Zhan, F Benjamin; Mistry, Jatin H; Scheuerle, Angela; Moody, Karen

2009-07-01

Most studies of the relationship between maternal residential proximity to sources of environmental pollution and congenital cardiovascular malformations have combined heart defects into one group or broad subgroups. The current case-control study examined whether risk of conotruncal heart defects, including subsets of specific defects, was associated with maternal residential proximity to hazardous waste sites and industrial facilities with recorded air emissions. Texas Birth Defects Registry cases were linked to their birth or fetal death certificate. Controls without birth defects were randomly selected from birth certificates. Distances from maternal addresses at delivery to National Priority List (NPL) waste sites, state superfund waste sites, and Toxic Release Inventory (TRI) facilities were determined for 1244 cases (89.5% of those eligible) and 4368 controls (88.0%). Living within 1 mile of a hazardous waste site was not associated with risk of conotruncal heart defects [adjusted odds ratio (aOR) = 0.83, 95% confidence interval (CI) = 0.54, 1.27]. This was true whether looking at most types of defects or waste sites. Only truncus arteriosus showed statistically elevated ORs with any waste site (crude OR: 2.80, 95% CI 1.19, 6.54) and with NPL sites (crude OR: 4.63, 95% CI 1.18, 13.15; aOR 4.99, 95% CI 1.26, 14.51), but the latter was based on only four exposed cases. There was minimal association between conotruncal heart defects and proximity to TRI facilities (aOR = 1.10, 95% CI = 0.91, 1.33). Stratification by maternal age or race/ethnic group made little difference in effect estimates for waste sites or industrial facilities. In this study population, maternal residential proximity to waste sites or industries with reported air emissions was not associated with conotruncal heart defects or its subtypes in offspring, with the exception of truncus arteriosus.

Maternal Use of Weight Loss Products and the Risk of Neural Tube Defects in Offspring: A Systematic Literature Review.

PubMed

Hoang, Thanh T; Agopian, A J; Mitchell, Laura E

2018-01-15

Several studies have assessed potential associations between use of weight loss products in the periconceptional period and neural tube defects (NTDs). However, the individual studies are inconclusive and there has not been a systematic review of this literature. We conducted a systematic search, using Ovid MEDLINE and PubMed, to identify studies that evaluated the association between products used for weight loss and the risk of NTDs. Because many studies of birth defects only evaluate a composite birth defect outcome, we evaluated studies that defined the outcome as "any major birth defect" or as NTDs. We abstracted data on study design, exposure definition, outcome definition, covariates and effect size estimates from each article that met our inclusion criteria. For studies that evaluated a composite birth defect outcome, we also abstracted the number of NTD cases included in the composite outcome. We used a modified version of the Newcastle-Ottawa Scale to assess the quality of each article. We screened 865 citations and identified nine articles that met our inclusion criteria. The majority of studies reported positive associations between maternal use of weight loss products and birth defects (overall and NTDs). However, there were few significant associations and there was considerable heterogeneity in the specific exposures assessed across the nine studies. Our systematic review of weight loss products and NTDs indicates that the literature on this topic is sparse. Because several studies reported modest, positive associations between risk and use of weight loss products, additional studies are warranted. Birth Defects Research 110:48-55, 2018. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

PubMed

De Mori, Roberta; Romani, Marta; D'Arrigo, Stefano; Zaki, Maha S; Lorefice, Elisa; Tardivo, Silvia; Biagini, Tommaso; Stanley, Valentina; Musaev, Damir; Fluss, Joel; Micalizzi, Alessia; Nuovo, Sara; Illi, Barbara; Chiapparini, Luisa; Di Marcotullio, Lucia; Issa, Mahmoud Y; Anello, Danila; Casella, Antonella; Ginevrino, Monia; Leggins, Autumn Sa'na; Roosing, Susanne; Alfonsi, Romina; Rosati, Jessica; Schot, Rachel; Mancini, Grazia Maria Simonetta; Bertini, Enrico; Dobyns, William B; Mazza, Tommaso; Gleeson, Joseph G; Valente, Enza Maria

2017-10-05

The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is mediated by the primary cilium, and genetic defects affecting either SHH pathway members or ciliary proteins cause a spectrum of developmental disorders. SUFU is the main negative regulator of the SHH pathway and is essential during development. Indeed, Sufu knock-out is lethal in mice, and recessive pathogenic variants of this gene have never been reported in humans. Through whole-exome sequencing in subjects with Joubert syndrome, we identified four children from two unrelated families carrying homozygous missense variants in SUFU. The children presented congenital ataxia and cerebellar vermis hypoplasia with elongated superior cerebellar peduncles (mild "molar tooth sign"), typical cranio-facial dysmorphisms (hypertelorism, depressed nasal bridge, frontal bossing), and postaxial polydactyly. Two siblings also showed polymicrogyria. Molecular dynamics simulation predicted random movements of the mutated residues, with loss of the native enveloping movement of the binding site around its ligand GLI3. Functional studies on cellular models and fibroblasts showed that both variants significantly reduced SUFU stability and its capacity to bind GLI3 and promote its cleavage into the repressor form GLI3R. In turn, this impaired SUFU-mediated repression of the SHH pathway, as shown by altered expression levels of several target genes. We demonstrate that germline hypomorphic variants of SUFU cause deregulation of SHH signaling, resulting in recessive developmental defects of the CNS and limbs which share features with both SHH-related disorders and ciliopathies. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Repair of segmental bone defects in the maxilla by transport disc distraction osteogenesis: Clinical experience with a new device

PubMed Central

Boonzaier, James; Vicatos, George; Hendricks, Rushdi

2015-01-01

The bones of the maxillary complex are vital for normal oro-nasal function and facial cosmetics. Maxillary tumor excision results in large defects that commonly include segments of the alveolar and palatine processes, compromising eating, speech and facial appearance. Unlike the conventional approach to maxillary defect repair by vascularized bone grafting, transport disc distraction osteogenesis (TDDO) stimulates new bone by separating the healing callus, and stimulates growth of surrounding soft tissues as well. Bone formed in this way closely mimics the parent bone in form and internal structure, producing a superior anatomical, functional and cosmetic result. Historically, TDDO has been successfully used to close small horizontal cleft defects in the maxilla, not exceeding 25 mm. Fujioka et al. reported in 2012 that “no bone transporter corresponding to the (large) size of the oro-antral fistula is marketed. The authors report the successful treatment of 4 cases involving alveolar defects of between 25 mm and 80 mm in length. PMID:26389041

Bright Promise for Your Child with Cleft Lip and Cleft Palate. Revised Edition.

ERIC Educational Resources Information Center

McDonald, Eugene T.; Berlin, Asa J.

Intended for parents of children with cleft lip and cleft palate, the booklet provides an overview of the condition. Addressed are the following topics (sample subtopics in parentheses): prenatal development and birth defects (facial development); possible causes of cleft lip/cleft palate (common misconceptions, genetic factors, environmental…

Minimizing complications associated with coronal approach by application of various modifications in surgical technique for treating facial trauma: A prospective study.

PubMed

Kumar, V Santosh; Rao, N Koteswara; Mohan, Kodali Rama; Krishna, Leela; Prasad, B Srinivasa; Ranganadh, N; Lakshmi, Vijaya

2016-01-01

Coronal incision is a popular and versatile surgical approach to the anterior cranial vault and upper and middle third facial skeleton. The flap itself permits widespread exposure of the fractures in this region. The bicoronal flap was first described by Hartley and Kenyon (neurosurgeons) to gain access to the anterior cranium in 1907. It extension as an access flap to the upper and lateral aspect of the face was pioneered by Tessier (1971). Esthetically, it is pleasing as the surgical scar is hidden within the hair. To evaluate the versatility of coronal incision using various modifications advocated in incision, exposure to fractured site, and closure of flap in treating the upper and middle third facial fractures. A total of ten patients diagnosed with upper and middle third facial fractures requiring open reduction and internal fixation/correction of contour defect were selected after preoperative clinical and radiographic (computed tomography scan) evaluation. All the cases were operated by coronal approach to gain the access to the fracture/defect site for reduction/correction of the defect. Advantages and complication are evaluated. Excellent access and anatomical reduction by this approach with least number of complications; if it is performed with healthy knowledge of anatomy of the scalp and temporal region. Certain minimal complications have also been noted using various modifications used in the procedure. Despite of prolonged surgical time for the exposure, it is very advantages in treating upper and middle third facial fractures due to wide access and discreet scar (minimal).

Altered Kinematics of Facial Emotion Expression and Emotion Recognition Deficits Are Unrelated in Parkinson's Disease.

PubMed

Bologna, Matteo; Berardelli, Isabella; Paparella, Giulia; Marsili, Luca; Ricciardi, Lucia; Fabbrini, Giovanni; Berardelli, Alfredo

2016-01-01

Altered emotional processing, including reduced emotion facial expression and defective emotion recognition, has been reported in patients with Parkinson's disease (PD). However, few studies have objectively investigated facial expression abnormalities in PD using neurophysiological techniques. It is not known whether altered facial expression and recognition in PD are related. To investigate possible deficits in facial emotion expression and emotion recognition and their relationship, if any, in patients with PD. Eighteen patients with PD and 16 healthy controls were enrolled in this study. Facial expressions of emotion were recorded using a 3D optoelectronic system and analyzed using the facial action coding system. Possible deficits in emotion recognition were assessed using the Ekman test. Participants were assessed in one experimental session. Possible relationship between the kinematic variables of facial emotion expression, the Ekman test scores, and clinical and demographic data in patients were evaluated using the Spearman's test and multiple regression analysis. The facial expression of all six basic emotions had slower velocity and lower amplitude in patients in comparison to healthy controls (all P s < 0.05). Patients also yielded worse Ekman global score and disgust, sadness, and fear sub-scores than healthy controls (all P s < 0.001). Altered facial expression kinematics and emotion recognition deficits were unrelated in patients (all P s > 0.05). Finally, no relationship emerged between kinematic variables of facial emotion expression, the Ekman test scores, and clinical and demographic data in patients (all P s > 0.05). The results in this study provide further evidence of altered emotional processing in PD. The lack of any correlation between altered facial emotion expression kinematics and emotion recognition deficits in patients suggests that these abnormalities are mediated by separate pathophysiological mechanisms.

Birth outcomes and maternal residential proximity to natural gas development in rural Colorado.

PubMed

McKenzie, Lisa M; Guo, Ruixin; Witter, Roxana Z; Savitz, David A; Newman, Lee S; Adgate, John L

2014-04-01

Birth defects are a leading cause of neonatal mortality. Natural gas development (NGD) emits several potential teratogens, and U.S. production of natural gas is expanding. We examined associations between maternal residential proximity to NGD and birth outcomes in a retrospective cohort study of 124,842 births between 1996 and 2009 in rural Colorado. We calculated inverse distance weighted natural gas well counts within a 10-mile radius of maternal residence to estimate maternal exposure to NGD. Logistic regression, adjusted for maternal and infant covariates, was used to estimate associations with exposure tertiles for congenital heart defects (CHDs), neural tube defects (NTDs), oral clefts, preterm birth, and term low birth weight. The association with term birth weight was investigated using multiple linear regression. Prevalence of CHDs increased with exposure tertile, with an odds ratio (OR) of 1.3 for the highest tertile (95% CI: 1.2, 1.5); NTD prevalence was associated with the highest tertile of exposure (OR = 2.0; 95% CI: 1.0, 3.9, based on 59 cases), compared with the absence of any gas wells within a 10-mile radius. Exposure was negatively associated with preterm birth and positively associated with fetal growth, although the magnitude of association was small. No association was found between exposure and oral clefts. In this large cohort, we observed an association between density and proximity of natural gas wells within a 10-mile radius of maternal residence and prevalence of CHDs and possibly NTDs. Greater specificity in exposure estimates is needed to further explore these associations.

Facial Fractures.

PubMed

Ghosh, Rajarshi; Gopalkrishnan, Kulandaswamy

2018-06-01

The aim of this study is to retrospectively analyze the incidence of facial fractures along with age, gender predilection, etiology, commonest site, associated dental injuries, and any complications of patients operated in Craniofacial Unit of SDM College of Dental Sciences and Hospital. This retrospective study was conducted at the Department of OMFS, SDM College of Dental Sciences, Dharwad from January 2003 to December 2013. Data were recorded for the cause of injury, age and gender distribution, frequency and type of injury, localization and frequency of soft tissue injuries, dentoalveolar trauma, facial bone fractures, complications, concomitant injuries, and different treatment protocols.All the data were analyzed using statistical analysis that is chi-squared test. A total of 1146 patients reported at our unit with facial fractures during these 10 years. Males accounted for a higher frequency of facial fractures (88.8%). Mandible was the commonest bone to be fractured among all the facial bones (71.2%). Maxillary central incisors were the most common teeth to be injured (33.8%) and avulsion was the most common type of injury (44.6%). Commonest postoperative complication was plate infection (11%) leading to plate removal. Other injuries associated with facial fractures were rib fractures, head injuries, upper and lower limb fractures, etc., among these rib fractures were seen most frequently (21.6%). This study was performed to compare the different etiologic factors leading to diverse facial fracture patterns. By statistical analysis of this record the authors come to know about the relationship of facial fractures with gender, age, associated comorbidities, etc.

[Neonatal facial palsy: identification of herpes simplex virus 1 in cerebrospinal fluid. Case report].

PubMed

Lubián López, Simón; Pérez Guerrero, Juan J; Salazar Oliva, Patricia; Benavente Fernández, Isabel

2018-06-01

Neonatal facial palsy is very uncommon and is generally diagnosed at birth. We present the first published case of neonatal facial palsy with identification of herpes simplex virus 1 in cerebrospinal fluid. A 35-day-old male was presented at the Emergency Department with mouth deviation to the left and impossibility of full closure of the right eye. There were no symptoms of infection or relevant medical history. Physical examination was compatible with peripheral facial palsy. Studies performed at admission were normal (blood count, biochemical analysis and coagulation blood tests and cerebrospinal fluid analysis). The patient was admitted on oral prednisolone and intravenous aciclovir. Cranial magnetic resonance was normal. Polymerase chain reaction test for herpes simplex virus 1 in cerebrospinal fluid was reported positive after 48 hours of admission. Patient followed good evolution and received prednisolone for 7 days and acyclovir for 21 days. At discharge, neurological examination was normal. Sociedad Argentina de Pediatría.

Population-based birth weight reference percentiles for Chinese twins.

PubMed

Dai, Li; Deng, Changfei; Li, Yanhua; Yi, Ling; Li, Xiaohong; Mu, Yi; Li, Qi; Yao, Qiang; Wang, Yanping

2017-09-01

Birth weight percentiles by gestational age are important for assessing prenatal growth and predicting postnatal outcomes of newborns. Several countries have developed nation-specific birth weight references for twins, but China still lacks such references. Birth weight data for twins born between October 2006 and September 2015 were abstracted from the China National Population-based Birth Defects Surveillance System. A total of 54,786 live twin births aged ≥28 weeks of gestation without birth defects were included in the analysis. The LMS method was adopted to generate gestational age-specific birth weight percentiles and curves for male and female twins separately. Significant differences were observed between the current reference and other references developed for Chinese or non-Chinese twins. The neonatal mortality rate in this cohort was 12.3‰, and much higher rates at very early gestation weeks were identified in small-for-gestational-age twins grouped by the newly developed reference cutoffs. The established birth weight centiles represent the first birth weight norm for contemporary Chinese twins and can be a useful tool to assess growth of twins in clinical and research settings. Key Messages There have been no population-based birth weight percentiles for Chinese twins prior to this study. The established birth weight centiles for female and male twins are markedly lower than those for Chinese singletons. Twin-specific curves should be used for determining inappropriate for gestational age in twins rather than using existing singleton reference. The birth weight percentiles for twins differed significantly from those for non-Chinese twins. In addition to ethnic influences, the observed differences could be ascribed to variations in prenatal care, fetal or maternal nutrition status or other environmental factors. Neonatal mortality rates varied considerably among twins grouped by the newly developed reference percentiles. Small

Social aspects of low birth weight.

PubMed

Dunn, H G

1984-05-01

well as maternal habits, the quality of nutrition and health care for mother and child, and other "culture factors." The following seem important facets of the management of low birth weight children: optimal obstetric and perinatal care; "bonding" by parents visiting the intensive care nursery and handling the infant; anticipatory guidance; regular pediatric follow-up for at-risk infants; infant stimulation; early correction of refractive errors, strabismus, other visual defects, hearing defects and orthopedic deformities; and developmental assessments and school readiness tests.

The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects

PubMed Central

Coppedè, Fabio

2015-01-01

Almost 15 years ago it was hypothesized that polymorphisms of genes encoding enzymes involved in folate metabolism could lead to aberrant methylation of peri-centromeric regions of chromosome 21, favoring its abnormal segregation during maternal meiosis. Subsequently, more than 50 small case-control studies investigated whether or not maternal polymorphisms of folate pathway genes could be risk factors for the birth of a child with Down syndrome (DS), yielding conflicting and inconclusive results. However, recent meta-analyses of those studies suggest that at least three of those polymorphisms, namely MTHFR 677C>T, MTRR 66A>G, and RFC1 80G>A, are likely to act as maternal risk factors for the birth of a child with trisomy 21, revealing also complex gene-nutrient interactions. A large-cohort study also revealed that lack of maternal folic acid supplementation at peri-conception resulted in increased risk for a DS birth due to errors occurred at maternal meiosis II in the aging oocyte, and it was shown that the methylation status of chromosome 21 peri-centromeric regions could favor recombination errors during meiosis leading to its malsegregation. In this regard, two recent case-control studies revealed association of maternal polymorphisms or haplotypes of the DNMT3B gene, coding for an enzyme required for the regulation of DNA methylation at centromeric and peri-centromeric regions of human chromosomes, with risk of having a birth with DS. Furthermore, congenital heart defects (CHD) are found in almost a half of DS births, and increasing evidence points to a possible contribution of lack of folic acid supplementation at peri-conception, maternal polymorphisms of folate pathway genes, and resulting epigenetic modifications of several genes, at the basis of their occurrence. This review summarizes available case-control studies and literature meta-analyses in order to provide a critical and up to date overview of what we currently know in this field. PMID:26161087

Automatic Contour Extraction of Facial Organs for Frontal Facial Images with Various Facial Expressions

NASA Astrophysics Data System (ADS)

Kobayashi, Hiroshi; Suzuki, Seiji; Takahashi, Hisanori; Tange, Akira; Kikuchi, Kohki

This study deals with a method to realize automatic contour extraction of facial features such as eyebrows, eyes and mouth for the time-wise frontal face with various facial expressions. Because Snakes which is one of the most famous methods used to extract contours, has several disadvantages, we propose a new method to overcome these issues. We define the elastic contour model in order to hold the contour shape and then determine the elastic energy acquired by the amount of modification of the elastic contour model. Also we utilize the image energy obtained by brightness differences of the control points on the elastic contour model. Applying the dynamic programming method, we determine the contour position where the total value of the elastic energy and the image energy becomes minimum. Employing 1/30s time-wise facial frontal images changing from neutral to one of six typical facial expressions obtained from 20 subjects, we have estimated our method and find it enables high accuracy automatic contour extraction of facial features.

Three-Dimensional Accuracy of Facial Scan for Facial Deformities in Clinics: A New Evaluation Method for Facial Scanner Accuracy.

PubMed

Zhao, Yi-Jiao; Xiong, Yu-Xue; Wang, Yong

2017-01-01

In this study, the practical accuracy (PA) of optical facial scanners for facial deformity patients in oral clinic was evaluated. Ten patients with a variety of facial deformities from oral clinical were included in the study. For each patient, a three-dimensional (3D) face model was acquired, via a high-accuracy industrial "line-laser" scanner (Faro), as the reference model and two test models were obtained, via a "stereophotography" (3dMD) and a "structured light" facial scanner (FaceScan) separately. Registration based on the iterative closest point (ICP) algorithm was executed to overlap the test models to reference models, and "3D error" as a new measurement indicator calculated by reverse engineering software (Geomagic Studio) was used to evaluate the 3D global and partial (upper, middle, and lower parts of face) PA of each facial scanner. The respective 3D accuracy of stereophotography and structured light facial scanners obtained for facial deformities was 0.58±0.11 mm and 0.57±0.07 mm. The 3D accuracy of different facial partitions was inconsistent; the middle face had the best performance. Although the PA of two facial scanners was lower than their nominal accuracy (NA), they all met the requirement for oral clinic use.

Bilateral cleft lip and palate: A morphometric analysis of facial skeletal form using cone beam computed tomography.

PubMed

Starbuck, John M; Ghoneima, Ahmed; Kula, Katherine

2015-07-01

Bilateral cleft lip and palate (BCLP) is caused by a lack of merging of maxillary and nasal facial prominences during development and morphogenesis. BCLP is associated with congenital defects of the oronasal facial region that can impair ingestion, mastication, speech, and dentofacial development. Using cone beam computed tomography (CBCT) images, 7- to 18-year old individuals born with BCLP (n = 15) and age- and sex-matched controls (n = 15) were retrospectively assessed. Coordinate values of three-dimensional facial skeletal anatomical landmarks (n = 32) were measured from each CBCT image. Data were evaluated using principal coordinates analysis (PCOORD) and Euclidean Distance Matrix Analysis (EDMA). PCOORD axes 1-3 explain approximately 45% of the morphological variation between samples, and specific patterns of morphological differences were associated with each axis. Approximately, 30% of facial skeletal measures significantly differ by confidence interval testing (α = 0.10) between samples. While significant form differences occur across the facial skeleton, strong patterns of differences are localized to the lateral and superioinferior aspects of the nasal aperture. In conclusion, the BCLP deformity significantly alters facial skeletal morphology of the midface and oronasal regions of the face, but morphological differences were also found in the upper facial skeleton and to a lesser extent, the lower facial skeleton. This pattern of strong differences in the oronasal region of the facial skeleton combined with differences across the rest of the facial complex underscores the idea that bones of the craniofacial skeleton are integrated. © 2015 Wiley Periodicals, Inc.

Diprosopus: Systematic review and report of two cases.

PubMed

Bidondo, María Paz; Groisman, Boris; Tardivo, Agostina; Tomasoni, Fabián; Tejeiro, Verónica; Camacho, Inés; Vilas, Mariana; Liascovich, Rosa; Barbero, Pablo

2016-12-01

Diprosopus is a subtype of symmetric conjoined twins with one head, facial duplication and a single trunk. Diprosopus is a very rare congenital anomaly. This is a systematic review of published cases and the presentation of two new cases born in Argentina. We estimated the prevalence of conjoined twins and diprosopus using data from the National Network of Congenital Anomalies of Argentina (RENAC). The prevalence of conjoined twins in RENAC was 19 per 1,000,000 births (95% confidence interval, 12-29). Diprosopus prevalence was 2 per 1,000,000 births (95% confidence interval, 0.2-6.8). In the systematic review, we identified 31 diprosopus cases. The facial structures more frequently duplicated were nose and eyes. Most frequent associated anomalies were: anencephaly, duplication of cerebral hemispheres, craniorachischisis, oral clefts, spinal abnormalities, congenital heart defects, diaphragmatic hernia, thoracic and/or abdominal visceral laterality anomalies. One of the RENAC cases and three cases from the literature had another discordant nonmalformed twin. The conjoined twins prevalence was similar to other studies. The prevalence of diprosopus was higher. The etiology is still unknown. The presence of visceral laterality anomalies may indicate the link between diprosopus and the alteration or duplication of the primitive node in the perigastrulation period (12-15 days postfertilization). Pregnancies of more than two embryos may be a risk factor for diprosopus. Given the low prevalence of this defect, it would be useful to perform studies involving several surveillance systems and international consortiums. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc. Birth Defects Research (Part A) 106:993-1007, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Selected environmental risk factors and congenital heart defects.

PubMed

Kuciene, Renata; Dulskiene, Virginija

2008-01-01

The aim of the article is to review the published scientific literature and epidemiological studies about the effect of selected environmental risk factors on congenital heart defects in infants. According to recent reports, the prevalence of congenital heart defects is around 1% of live births. Congenital heart malformations are the leading cause of infant mortality. Unfortunately, the majority of the causes of heart defects remain unknown. These malformations are caused by interaction of genetic and environmental factors. The article reviews selected environmental risk factors: maternal illnesses and conditions associated with metabolic disorder (maternal diabetes, obesity, phenylketonuria), maternal lifestyle factors (alcohol use, smoking), which may increase the risk of congenital heart defects.

Possible association of first and high birth order of pregnant women with the risk of isolated congenital abnormalities in Hungary - a population-based case-matched control study.

PubMed

Csermely, Gyula; Susánszky, Éva; Czeizel, Andrew E; Veszprémi, Béla

2014-08-01

In epidemiological studies at the estimation of risk factors in the origin of specified congenital abnormalities in general birth order (parity) is considered as confounder. The aim of this study was to analyze the possible association of first and high (four or more) birth order with the risk of congenital abnormalities in a population-based case-matched control data set. The large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities included 21,494 cases with different isolated congenital abnormality and their 34,311 matched controls. First the distribution of birth order was compared of 24 congenital abnormality groups and their matched controls. In the second step the possible association of first and high birth order with the risk of congenital abnormalities was estimated. Finally some subgroups of neural-tube defects, congenital heart defects and abdominal wall's defects were evaluated separately. A higher risk of spina bifida aperta/cystica, esophageal atresia/stenosis and clubfoot was observed in the offspring of primiparous mothers. Of 24 congenital abnormality groups, 14 had mothers with larger proportion of high birth order. Ear defects, congenital heart defects, cleft lip± palate and obstructive defects of urinary tract had a linear trend from a lower proportion of first born cases to the larger proportion of high birth order. Birth order showed U-shaped distribution of neural-tube defects and clubfoot, i.e. both first and high birth order had a larger proportion in cases than in their matched controls. Birth order is a contributing factor in the origin of some isolated congenital abnormalities. The higher risk of certain congenital abnormalities in pregnant women with first or high birth order is worth considering in the clinical practice, e.g. ultrasound scanning. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Emotional facial activation induced by unconsciously perceived dynamic facial expressions.

PubMed

Kaiser, Jakob; Davey, Graham C L; Parkhouse, Thomas; Meeres, Jennifer; Scott, Ryan B

2016-12-01

Do facial expressions of emotion influence us when not consciously perceived? Methods to investigate this question have typically relied on brief presentation of static images. In contrast, real facial expressions are dynamic and unfold over several seconds. Recent studies demonstrate that gaze contingent crowding (GCC) can block awareness of dynamic expressions while still inducing behavioural priming effects. The current experiment tested for the first time whether dynamic facial expressions presented using this method can induce unconscious facial activation. Videos of dynamic happy and angry expressions were presented outside participants' conscious awareness while EMG measurements captured activation of the zygomaticus major (active when smiling) and the corrugator supercilii (active when frowning). Forced-choice classification of expressions confirmed they were not consciously perceived, while EMG revealed significant differential activation of facial muscles consistent with the expressions presented. This successful demonstration opens new avenues for research examining the unconscious emotional influences of facial expressions. Copyright © 2016 Elsevier B.V. All rights reserved.

Maxillectomy defects: a suggested classification scheme.

PubMed

Akinmoladun, V I; Dosumu, O O; Olusanya, A A; Ikusika, O F

2013-06-01

The term "maxillectomy" has been used to describe a variety of surgical procedures for a spectrum of diseases involving a diverse anatomical site. Hence, classifications of maxillectomy defects have often made communication difficult. This article highlights this problem, emphasises the need for a uniform system of classification and suggests a classification system which is simple and comprehensive. Articles related to this subject, especially those with specified classifications of maxillary surgical defects were sourced from the internet through Google, Scopus and PubMed using the search terms maxillectomy defects classification. A manual search through available literature was also done. The review of the materials revealed many classifications and modifications of classifications from the descriptive, reconstructive and prosthodontic perspectives. No globally acceptable classification exists among practitioners involved in the management of diseases in the mid-facial region. There were over 14 classifications of maxillary defects found in the English literature. Attempts made to address the inadequacies of previous classifications have tended to result in cumbersome and relatively complex classifications. A single classification that is based on both surgical and prosthetic considerations is most desirable and is hereby proposed.

Neural Tube Defects

PubMed Central

Greene, Nicholas D.E.; Copp, Andrew J.

2015-01-01

Neural tube defects (NTDs), including spina bifida and anencephaly, are severe birth defects of the central nervous system that originate during embryonic development when the neural tube fails to close completely. Human NTDs are multifactorial, with contributions from both genetic and environmental factors. The genetic basis is not yet well understood, but several nongenetic risk factors have been identified as have possibilities for prevention by maternal folic acid supplementation. Mechanisms underlying neural tube closure and NTDs may be informed by experimental models, which have revealed numerous genes whose abnormal function causes NTDs and have provided details of critical cellular and morphological events whose regulation is essential for closure. Such models also provide an opportunity to investigate potential risk factors and to develop novel preventive therapies. PMID:25032496

Genetic Factors That Increase Male Facial Masculinity Decrease Facial Attractiveness of Female Relatives

PubMed Central

Lee, Anthony J.; Mitchem, Dorian G.; Wright, Margaret J.; Martin, Nicholas G.; Keller, Matthew C.; Zietsch, Brendan P.

2014-01-01

For women, choosing a facially masculine man as a mate is thought to confer genetic benefits to offspring. Crucial assumptions of this hypothesis have not been adequately tested. It has been assumed that variation in facial masculinity is due to genetic variation and that genetic factors that increase male facial masculinity do not increase facial masculinity in female relatives. We objectively quantified the facial masculinity in photos of identical (n = 411) and nonidentical (n = 782) twins and their siblings (n = 106). Using biometrical modeling, we found that much of the variation in male and female facial masculinity is genetic. However, we also found that masculinity of male faces is unrelated to their attractiveness and that facially masculine men tend to have facially masculine, less-attractive sisters. These findings challenge the idea that facially masculine men provide net genetic benefits to offspring and call into question this popular theoretical framework. PMID:24379153