Congenital abnormalities

Approximately 3% of infants born have at least one serious congenital malformation. In the U.S., an average of 10 infants per thousand die before 1 y of life; about half of these deaths can be attributed to birth defects, low birth weight or prematurity. Although the causes of developmental abnormalities are clearly multifactorial in nature, we suggest that a common factor contributing to the occurrence of developmental abnormalities is suboptimal mineral nutrition during embryonic and fetal development. Using zinc and copper as examples, evidence is presented that nutritional deficiencies can rapidly affect the developing conceptus and result in gross structural abnormalities. Deficits of zinc or copper can result in rapid changes in cellular redox balance, tissue oxidative stress, inappropriate patterns of cell death, alterations in the migration of neural crest cells and changes in the expression of key patterning genes. In addition to well-recognized malformations, mineral deficiencies during perinatal development can result in behavioral, immunological and biochemical abnormalities that persist into adulthood. Although these persistent defects can in part be attributed to subtle morphological abnormalities, in other cases they may be secondary to epigenetic or developmental changes in DNA methylation patterns. Epigenetic defects combined with subtle morphological abnormalities can influence an individual's risk for certain chronic diseases and thus influence his or her risk for morbidity and mortality later in life.

Placental blood flow was measured with the aid of radioactive microspheres, in normal (N) and manifest diabetic (MD) rats, and related to fetal body growth and incidence of congenital malformations. The total blood flow in the placentae of the MD rats was decreased to about one-half of the normal flow on gestational days 20 and 22. The placentae of the MD offspring were enlarged, whereas the fetuses in this group were smaller than normal. Thus, the placental blood flow per placental weight was drastically decreased in the MD fetuses on both days 20 and 22. In contrast, the placental blood flow per fetal weight was not different in the N and MD groups on gestational day 20 whereas it was decreased in the MD offspring on gestational day 22. Placental blood flow in the malformed fetuses of the MD group did not differ significantly from that in the nonmalformed MD fetuses.

Consanguinity or inter-cousin marriage is a phenomenon quite prevalent in certain regions around the globe. Consanguineous parents have a higher risk of having offspring with congenital disorders. It is difficult to model large scale consanguineous parental populations because of disparate cultural issues unique to regions and cultures across the globe. Although consanguinity has previously been studied as a social problem, it has not been modeled from a biological perspective. Discrete Event System Specification (DEVS) is a powerful modeling formalism for the study of intricate details of real-world complex systems. In this paper, we have developed a DEVS model to get an insight into the role of consanguineous marriages in the evolution of congenital disorders in a population. As proof-of-concept, we further developed a consanguinity simulation model in Simio simulation software. Simulation results validated using population growth data show the effectiveness of this approach in the modeling of consanguinity in populations.

Vocal fold paralysis (VFP) is the second most common congenital abnormality that affects the larynx. Unilateral cases may be asymptomatic or feature symptoms related to laryngeal incompetence, such as aspiration and dysphonia. Management has traditionally been conservative as a high percentage of these paralyses recover spontaneously. The literature is scant on the acute or chronic management of unilateral vocal fold paralysis related symptoms in children. We present a series of four children (age 21 days, 5 years, 5 years, and 18 years) with unilateral VFP paralysis treated with collagen (Cymmtera) augmentation for control of symptoms related to laryngeal incompetence. Two children (age 21 days and 5 years) were managed in the acute setting. Follow-up has ranged from 4 to 12 months, and all have maintained excellent outcomes. Vocal fold augmentation with collagen is an effective therapeutic option in the management of symptoms related to unilateral VFP and laryngeal incompetence. It decreases the risk of aspiration and improves vocal quality. Collagen augmentation can be used in the acute setting to decrease aspiration, possibly avoiding a tracheotomy or gastrostomy tube placement, or to augment patients with a tracheotomy who are still severely aspirating.

Cryopreservation of oocytes by vitrification is a promising new technique for assisted human reproduction. Any new technical development must be accompanied with data concerning obstetric and perinatal outcome. This study analysed the obstetric and perinatal outcomes in 165 pregnancies and 200 infants conceived following oocyte vitrification cycles in three assisted reproduction centres. The results indicate that the mean birth weight and the incidence of congenital anomalies are comparable to that of spontaneous conceptions in fertile women or infertile women undergoing in-vitro fertilization treatment. These preliminary findings may provide reassuring evidence that pregnancies and infants conceived following oocyte vitrification are not associated with increased risk of adverse obstetric and perinatal outcomes.

Objective: To compare the impedance to uterine artery blood flow, during the midluteal phase, in women with recurrent spontaneous abortion (RSA) as compared to normal fertile controls. Design: A prospective study involving women with a history of RSA and fertile controls. Setting: University of Rome "Tor Vergata." Patient(s): Two hundred thirty women with RSA and 50 fertile controls referred for routine examination. Intervention(s): Transvaginal Doppler examination of uterine arteries during the midluteal phase of untreated cycles. Main Outcome Measure(s): The mean pulsatility index (PI) of uterine arteries.

Fetiform teratoma (homunculus) is a term that has been given to a rare form of ovarian teratoma that resembles a malformed fetus. There are very few reported cases of this entity in the English language literature. In this report, we document a case of fetiform teratoma in a 23-year-old woman, gravida 0, who initially presented with a chief complaint of dyspareunia. The clinical and pathologic aspects of this rare entity are presented here, with a review of the English literature. Differentiating fetiform teratoma from the more highly developed fetus-in-fetu and ectopic pregnancy is also discussed.

Objectives: To establish the socio-demographic and clinical profile of children attending Early Intervention Program (EIP).Methods: Retrospective analysis of case records of 100 consecutive children examined from July 2002 to June 2004. Data regarding socio-demographic variables, clinical profile, locomotor, speech and audiology functions were recorded. Data is described in terms of frequency and mean (with SD).Results: Mean age of these children was 4.0±1.4 years. 70% were male and a similar percentage hailed from urban areas. 88% were mentally retarded with mean IQ of 50±24.3. Cerebral Palsy was seen in 50% of the children, learning disorder in 24%, Attention Deficit Hyperactivity Disorder (ADHD) in 12% and autism in 4%. 25% of children suffered from epilepsy and 66% were unable to communicate verbally. 21% of children had strong evidence of genetic disorders. An etiological diagnosis could not be made in 31% of children.Conclusions: Awareness of developmental delay as well as of possible interventions is low in India. Speech delay is the only delay which is considered important by parents. Active involvement and early referrals from pediatricians, obstetricians and other specialists is suggested.

ABSTRACT  A retrospective study was conducted on the prevalence of congenital malformations in Cross River and Akwa Ibom states of Nigeria from 1980–2003. These states lie in the South-South geopolitical zone of Nigeria. The aim of the study was to determine the percentage of occurrence of birth defects and provide reference data for this part of the country. Details of congenital malformations were compiled by reviewing the delivery register of the records departments of maternity sections of University of Calabar Teaching Hospital, St Luke's Hospital Anua and St Mary's Hospital Uruakpan. A total of 127 929 births were recorded, of which 452 cases of malformations were recorded. The anomalies recorded in the skeletal system were the highest with 132 cases (29.2%) detected. Other malformations were found to be associated with the central nervous system with 111 cases (24.6%) detected. Those associated with the urogenital system were found in 83 cases (18.4%). Congenital anomalies of the lip, palate and jaw were found in 56 cases (12.4%), while those of the eye and ear were found in 12 cases (2.7%). Those of the gastrointestinal tract were found in 29 cases (6.4%), while those of the respiratory and cardiovascular systems were found in 28 cases (6.2%) and in one case (0.2%), respectively. Fifteen cases (3.3%) were associated with chromosomal abnormalities, such as Down syndrome. However, these results do not provide a complete incidence of congenital malformations in the two states studies because most anomalies are not recorded in rural health and traditional birth centers.

Purpose: The goal of this study was to evaluate arthroscopic partial resection of discoid lateral meniscus tears with an emphasis on radiographic evidence of degenerative changes after this procedure. Type of Study: Retrospective clinical study. Methods: Of 41 patients with an arthroscopic diagnosis of discoid meniscus over an 8-year period, 34 symptomatic lateral discoid meniscus tears in 33 patients were analyzed at an average follow-up of 5.6 years. The average age at operation was 19.8 years and most patients had vague and intermittent symptoms that caused delay in clinical diagnosis. Results: Eight patients were lost to follow-up and were excluded from the study. Magnetic resonance imaging, performed in 12 cases, and arthroscopy in all of these patients provided the precise diagnosis. All of the knees with symptomatic torn discoid menisci underwent arthroscopic partial meniscectomy. Only 1 Watanabe Wrisberg ligament type of discoid meniscus with posterior instability was totally meniscected. Based on Ikeuchi's grading, 39% of the knees had an excellent result, 46% had a good result, and 15% had a fair result; none of the results was poor. Conclusions: At an average 5-year follow-up, partial meniscectomy in patients with a Watanabe complete or incomplete discoid meniscus showed 85% good or excellent clinical results. However, a significant percentage of patients show femoral condyle flattening on radiography.

To explore the role of and report on congenital and genetic cerebrovascular anomalies as risk factors for stroke in a prospective and retrospective cohort of Saudi children. Children with stroke were evaluated at the Division of Pediatric Neurology (DPN), or were seen as inpatients in the Pediatric Wards at King Khalid University Hospital (KKUH), Riyadh, Kingdom of Saudi Arabia during the periods July 1992 to February 2001 (retrospective study) and February 2001 to March 2003 (prospective study). Stroke work-up for each suspected case included hemostatic assays, serological, biochemical and neurophysiological tests. Neuroimaging modalities included routine skull x-rays, CT, MRI, magnetic resonance angiography (MRA) and conventional cerebral angiography. Of 104 children with stroke, congenital and genetic cerebrovascular anomalies were the underlying risk factor in 7 (6.7%). The patients were evaluated at the DPN at a mean age of 66 months (range = 8 months to 11 years, median = 6 ye...

The aim was to develop a comprehensive screening instrument for evaluation of orofacial dysfunction that was easy to perform for different health professionals without special equipment. The Nordic Orofacial Test--Screening (NOT-S), consisting of a structured interview and clinical examination,was developed with a picture manual illustrating the different tasks in the examination. It was first tested in a Swedish version, and later translated to other Nordic languages, and to English. The interview reflected six domains, (I) Sensory function, (II) Breathing, (III) Habits, (IV) Chewing and swallowing, (V) Drooling, and (VI) Dryness of the mouth, and the examination included six domains representing (1) The face at rest, and tasks regarding (2) Nose breathing, (3) Facial expression, (4) Masticatory muscle and jaw function, (5) Oral motor function, and (6) Speech. One or more "yes" for impairment in a domain resulted in one point (maximum NOT-S score 12 points). The mean NOT-...

BACKGROUND: In the United States, birth defects affect approximately 3% of all births, are a leading cause of infant mortality, and contribute substantially to childhood morbidity. METHODS: Population-based data from the National Birth Defects Prevention Network were combined to estimate the prevalence of 21 selected defects for 1999–2001, stratified by surveillance system type. National prevalence was estimated for each defect by pooling data from 11 states with active case-finding, and adjusting for the racial/ethnic distribution of US live births. We also assessed racial/ethnic variation of the selected birth defects. RESULTS: National birth defect prevalence estimates ranged from 0.82 per 10,000 live births for truncus arteriosus to 13.65 per 10,000 live births for Down syndrome. Compared with infants of non-Hispanic (NH) white mothers, infants of NH black mothers had a significantly higher birth prevalence of tetralogy of Fallot, lower limb reduction defects, and trisomy 18, and a significantly lower birth prevalence of cleft palate, cleft lip with or without cleft palate, esophageal atresia/tracheoesophageal fistula, gastroschisis, and Down syndrome. Infants of Hispanic mothers, compared with infants of NH white mothers, had a significantly higher birth prevalence of anencephalus, spina bifida, encephalocele, gastroschisis, and Down syndrome, and a significantly lower birth prevalence of tetralogy of Fallot, hypoplastic left heart syndrome, cleft palate without cleft lip, and esophageal atresia/tracheoesophageal fistula. CONCLUSIONS: This study can be used to evaluate individual state surveillance data, and to help plan for public health care and educational needs. It also provides valuable data on racial/ethnic patterns of selected major birth defects. Birth Defects Research (Part A), 2006. © 2006 Wiley-Liss, Inc.

In autumn 2011, a novel species of the genus Orthobunyavirus of the Simbu serogroup was discovered close to the German/Dutch border and named Schmallenberg virus (SBV). Since then, SBV has caused a large epidemic in European livestock. Like other viruses of the Simbu serogroup, SBV is transmitted by insect vectors. Adult ruminants may show a mild transient disease, while an infection during a critical period of pregnancy can lead to severe congenital malformation, premature birth or stillbirth. The current knowledge about the virus, its diagnosis, the spread of the epidemic, the impact and the possibilities for preventing infections with SBV is described and discussed.

Hatching success, deformity rates, and survivorship of northern red-legged frogs (Rana aurora) and northwestern salamanders (Ambystoma gracile) were assessed at three agricultural and three reference sites in the Sumas Prairie, British Columbia, Canada. In 1997 and 1998, eggs of both species and eggs of R. aurora, respectively, were placed in Nytex mesh cages (Irwindale, CA, USA) in roadside ditches at each site. Concurrently in 1997, eggs of R. aurora were reared in the laboratory but were exposed to water samples from each of the study sites. Hatching success was significantly lower at all agricultural sites compared to the reference sites for both species. However, no differences were observed in hatching success among sites for eggs of R. aurora reared in the laboratory. Water chemistry differed among all sites, but the largest differences were between reference and agricultural sites. Ammonia (maximum of 1.27 mg/L), total phosphate (maximum of 8.14 mg/L), and biological oxygen demand (maximum of 79.00 mg/L) were high at some of the agricultural sites during the development period. Results suggest that agricultural runoff may contribute to lower reproductive success and ultimately to reduced population viability of amphibian populations in the Lower Fraser Valley (BC, Canada).

Background. When other weight loss attempts have failed, bariatric surgery offers a successful alternative for obesity. Since operations are performed during women's reproductive years, the number of pregnant women with prior bariatric surgery is increasing. Bariatric surgery results in restriction of food intake and/or malabsorption leading to weight loss, but may induce a risk for malnutrition and pregnancy complications. Method. Systematically conducted review addressing pregnancy after bariatric surgery using the PubMed and Cochrane databases. Main outcome measures. Birthweight, gestational age, birth defects, preeclampsia, gestational diabetes mellitus, and mode of delivery. Results. We included 17 articles in English, comparing pregnancies in women with prior bariatric surgery to pregnancies in a control group without this. There was considerable heterogeneity in study design and six of the studies included <50 women with bariatric surgery. Eight studies described lower birthweight and lower risk of macrosomia after bariatric surgery, but in six there was no difference. Five studies indicated a higher risk of small-for-gestational age infants, but only compared with non-obese women or severely obese controls. There was no difference in gestational length. Only one study suggested a higher risk of birth defects after surgery. The maternal risk of preeclampsia and gestational diabetes mellitus was lower after bariatric surgery. Results regarding mode of delivery are conflicting. Conclusion. Pregnancy after bariatric surgery seems safe but larger studies matching or adjusting for body mass index are needed to improve the surveillance of these pregnancies and to assist in preventing adverse outcomes.

Since Agent Orange with its associated TCDD contaminant was aerially disseminated on the test grids, Test Area C-52A provided a 'field laboratory' for what may have happened in Vietnam, had there been no intercepting forest cover. However, in Vietnam a 'typical' mission would have disseminated 14.8 kg of 2,4,5-T/ha, most of which was intercepted by the forest canopy, versus the 876 kg 2,4,5-T/ha on the test grid at Eglin. Moreover, each hectare on the Eglin test grid received at least 1,300 times more TCDD than a hectare sprayed with Agent Orange in Vietnam. The disappearance or persistence of TCDD is dependent upon how it enters the ecosystem. Spray equipment test and evaluations missions at Eglin were generally scheduled and conducted with environmental conditions that were optimal for spray operations. This suggests that conditions favorable for dissemination of herbicide were the same conditions favorable for photodegradation of TCDD. It was likely that 99 percent of the TCDD never persisted beyond the day of application. No long-term adverse ecological effects were documented in these studies despite the massive quantities of herbicides and TCDD that were applied to the site. Reviews by the US Environmental Protection Agency and the National Academy of Sciences' Institute of Medicine did not address the fate of Agent Orange and TCDD as described in these studies from Eglin AFB, Florida.

Congenital portosystemic shunts were definitively diagnosed in 62 dogs over a period of 15 years. Maltese and Australian Cattle Dogs were significantly overrepresented, accounting for 14 and 13 cases, respectively. Maltese invariably had a single extrahepatic shunt derived from the left gastric or gastrosplenic vein, whereas Cattle Dogs usually had large intrahepatic shunts involving the right liver lobes. The clinical syndromes resulting from anomalous portosystemic communications were indistinguishable in the 2 breeds. Fasting blood ammonia concentration was elevated in 20 of 22 dogs tested, providing a minimally invasive and effective means of diagnosis. Complete or partial shunt attenuation was performed successfully in all 9 Maltese and in 2 of 6 Cattle Dogs in which it was attempted. Aust Vet j 71:174 -178

A retrospective study was conducted on the prevalence of congenital malformations in Cross River and Akwa Ibom states of Nigeria from 1980-2003. These states lie in the South-South geopolitical zone of Nigeria. The aim of the study was to determine the percentage of occurrence of birth defects and provide reference data for this part of the country.

Congenital malformations can be manifested as combinations of phenotypes that co-occur more often than expected by chance. In many such cases, it has proved difficult to identify a genetic cause. We sought the genetic cause of cardiac, vertebral, and renal defects, among others, in unrelated patients. We used genomic sequencing to identify potentially pathogenic gene variants in families in which a person had multiple congenital malformations. We tested the function of the variant by using assays of in vitro enzyme activity and by quantifying metabolites in patient plasma. We engineered mouse models with similar variants using the CRISPR (clustered regularly interspaced short palindromic repeats)-Cas9 system. Variants were identified in two genes that encode enzymes of the kynurenine pathway, 3-hydroxyanthranilic acid 3,4-dioxygenase (HAAO) and kynureninase (KYNU). Three patients carried homozygous variants predicting loss-of-function changes in the HAAO or KYNU proteins (HAAO p.D16...

We examined the relationship between diabetes in pregnancy and the development of congenital malformations, in a populationbased retrospechve study using birth certificate data for all liveborn children delivered from 1984 until 1991 in Washington State. Births to mothers with established and gestational diabetes numbered 1511 and 8869 respectively. For comparison we selected 8934 births to mothers without diabetes. The prevalence of congenital malformations in neonates was 7.2%, 2.8% and 2.1% among mothers with established diabetes, gestational diabetes, and without diabetes, respectively. Newborns of mothers with established diabetes were more likely to have a congenital malformation than newborns of non-diabetic mothers (prevalence odds ratio=4.0; 95% confidence interval 3.1-5.1). In contrast, there was only a slightly higher prevalence of congenital malformations among newborns of mothers with gestational diabetes (prevalence odds ratio = 1.3; 95% CI 1 .0-1.6). The association with maternal established diabetes was greater for neonates with multiple malformations (7.8; 95% CI 3.3-18.1) than for single malformations (2.9-95% CI 2.1-3.9). Four to seven fold associations were observed with skeletal, cleft lip/palate, neural tube and heart abnormalities. The association of established diabetes with congenital malformations was nearly twice as strong among female neonates (prevalence odds ratio = 5.4; 95% CI 3.7-8.0) than among male neonates (prevalence odds ratio=3.1; 95% CI 2.2-4.5). No such variation was observed for associations with gestational diabetes. This study enlarges on previous work relating congenital anomalies to established diabetes and supports the possibility of a weak association with gestational diabetes.

SUMMARY Capture-recapture methodology, originally developed for estimating demographic parameters of ani- mal populations, has been applied to human populations. This tutorial reviews various closed capture- recapture models which are applicable to ascertainment data for estimating the size of a target population based on several incomplete lists of individuals. Most epidemiological approaches merging di;erent lists and eliminating duplicate cases are likely

The objective of the study was to identify the origin (s) of the association between cerebral palsy (CP) and birth defects in the absence of cerebral birth defects. Data from the 1980 to 1994 Western Australian birth cohorts (355 659 neonatal survivors) were linked to the Cerebral Palsy Register (941 links) and the Birth Defects Registry (17070 links). Associations between CP (congenital or acquired) and birth defects (cerebral or exclusively non-cerebral) were estimated. The origin of the association between non-cerebral defects and acquired CP was investigated with an observational study, and the origin of the association between non-cerebral defects and congenital CP was investigated with a blinded case-control study of births with non-cerebral defects with or without CP. With non-cerebral defects, the odds ratio for CP was 4.8 (95% CI 3.1–7.4) if acquired and 4.7 (3.9–5.7) if congenital. For acquired CP, the association arose primarily as a result of cardiac defects. For congenital CP, the association arose partly from ascertainment bias and partly from defects known to be associated with cerebral defects (but not identified in these data). However, a significant portion remained unexplained. The presence of non-cerebral defects should heighten clinical alertness to the possibility of CP and of cerebral birth defects.

Background: Socioeconomic status (SES) is known to influence children's health-related quality of life. Many SES indicators assess distinct dimensions of a family's position rather than measuring the same underlying construct. Many researchers, however, see SES indicators as interchangeable. The primary aim of this study was to determine which measure of SES had the strongest impact on health-related quality of life. Methods: This is a secondary analysis of the Pediatric Cardiac Quality of Life Inventory Validation Study. The SES variables were family income, Hollingshead Index (occupational prestige), and highest parent educational attainment level. Health-related quality of life was measured using the Pediatric Cardiac Quality of Life Inventory. Correlations tested the relationship among the three SES indicators. Regression-based modeling was used to calculate the strength of the association between SES measures and the Pediatric Cardiac Quality of Life Inventory. Results: The correlations among the SES measures were moderately high, with the correlation between the Hollingshead Index and parental education being r = 0.62 (95% CI = 0.56-0.65). There were equally high correlations between family income and the Hollingshead (r = 0.61, 95% CI = 0.57-0.65) and a slightly lower correlation between family income and parental education (r = 0.55, 95% CI = 0.52-0.59). Family income had the highest explanatory value compared to the Hollingshead Index or parental educational attainment, while controlling for sex, race, current cardiac status, and original diagnosis, accounting for 4-5% of the variation in patient and parent Pediatric Cardiac Quality of Life Inventory Total score, respectively, compared to the other SES measures. Conclusion: Family income as an SES measure demonstrated the greatest fidelity with respect to health-related quality of life as measured by the Pediatric Cardiac Quality of Life Inventory across respondent groups and explained more of the variation compared to the Hollingshead Index or highest parental educational attainment.

We herein present 2 cases of adult Bochdalek hernia. Only a total of 51 such cases have been reported since 1958, and we have reviewed these cases and discussed their clinical features, operative treatment and final outcome. The majority of these patients presented as acute surgical emergencies and a lack of awareness of this condition lead to an incorrect diagnosis in 38 per cent. Intestinal obstruction with left lung signs and a non-distended abdomen in an adult patient should arouse suspicion of this condition. A plain X-ray of the chest and contrast studies of the gastrointestinal tract are necessary to confirm the diagnosis, A previous normal chest X-ray does not rule out a diaphragmati c hernia, as the defect may be plugged by the spleen or by the presence of a confining sac. The high incidence of strangulation emphasises the need for early diagnosis and prompt operative management which gives highly satisfactory results.

This article provides a nomenclature and classification of congenital abnormalities in order to better understand their origins, and hence provide a sound basis of management for affected children and the future counselling of their families. The scheme proposed is built on earlier recommendations by various international groups but which have, in the authors’ opinion, not had the recognition they deserve.

Benzodiazepines (BDs) have a widespread use among people suffering from anxiety. These drugs easily cross the placenta and may affect the developing embryo and fetus. The literature is divided as to whether BD may cause an increase in spontaneous abortions or congenital anomalies. From the years 1988 to 1996, 756 women called the Israeli TIS concerning exposures to BD prior to or during pregnancy. Of 599 women who called us during pregnancy, we have follow-up information on 460 pregnancies (76.6%). The incidence of congenital anomalies (3.1%) was not different from that found in 424 control pregnancies (2.6%). There was a significantly higher incidence of induced abortions (14.1% vs. 4.7%, P ‫؍‬ 0.00) and of spontaneous abortions (8.7% vs. 5.2%, P ‫؍‬ 0.01). From an examination of our results, it does not appear that BD during pregnancy caused an increase in the incidence of birth defects. There was no specific defect in the offspring. The increase in the rate of induced abortions is probably related to the counseling of the callers, and the increase in spontaneous abortions seems to be a result of the lower gestational age at the time of counseling in the women exposed to BD. It is unknown whether BD could be responsible for developmental or behavioral problems, which are observed only at a later stage. © 1998 Elsevier Science Inc.

The occurrence of Langerhans cell histiocytosis (LCH) and another malignancy in the same patient is infrequent but has been recognized. The genetic changes that could be responsible for LCH and/or concomitant leukemia development are obscure. To the best of our knowledge, this is the first description of constitutional maternally derived inv (9) (p12;q13) in an LCH patient, and also of the development of common ALL Ph after LCH diagnosis and therapy. The potential significance of these findings [inv (9)+LCH+ALL Ph+] and their mutual relationship are unknown. Therefore, cooperative studies of large numbers of patients are needed to identify the common risk factors, if any.

Background: The optimal treatment of pectus carinatum (PC) deformities is unclear. We propose a nonoperative approach using a lightweight, patient-controlled dynamic chest-bracing device. Material and Methods: With ethical approval, 24 patients with PC were treated at the Alberta Children's Hospital between January 1998 and April 2005. There were 6 (25%) females and 18 (75%) males, with a mean age of 12.9 years at the onset of treatment. Treatment involved fitting of a lightweight, patient-controlled chest brace, worn for 23 hours per day (correction phase [CP]) until the convex deformity was corrected. Following correction of the deformity, bracing was reduced to 8 hours per day (maintenance phase) until axial skeletal maturation ceased. Monitoring was done by measurement of the external pectus carinatum protrusion as well as subjective patient and surgeon appraisal of appearance and exercise tolerance. Results: Nineteen (79.2%) patients have completed initial treatment (mean CP time, 4.3 F 2.1 months). There were 3 patients (12.5%) who were noncompliant, and 2 (8.3%) are still in the initial CP phase of therapy. Fourteen (58.3%) patients are presently in maintenance phase, nocturnally braced, and 2 (8.3%) have completed therapy. In patients completing initial treatment, the protrusion pectus carinatum protrusion (pre 22 F 6 vs post 6.0 F 6.2) and subjective appearance (change + 1.8F0.4) showed a significant improvement ( P b .001 for both) with no change in exercise tolerance. Conclusion: Compressive bracing results in a significant subjective and objective improvement in PC appearance in skeletally immature patients. However, patient compliance and diligent follow up appear to be paramount for the success of this method of treatment. Further studies are required to show the durability of this method of treatment. D

Ankle arthroplasty is emerging as an alternative to arthrodesis. Restoring and maintaining proper bony alignment and muscle balance in the limb is essential if there is to be any chance for long-term survival. Deformity can arise above the ankle, in the joint itself, or in the foot. Secondary procedures in the foot and leg, including osteotomies, fusions and muscle balancing, are performed either before or simultaneously with ankle replacement.

Much research on the health effects of outdoor air pollution has been published in the last decade. The goal of this review is to concisely summarize a wide range of the recent research on health effects of many types of outdoor air pollution. A review of the health effects of major outdoor air pollutants including particulates, carbon monoxide, sulfur and nitrogen oxides, acid gases, metals, volatile organics, solvents, pesticides, radiation and bioaerosols is presented. Numerous studies have linked atmospheric pollutants to many types of health problems of many body systems including the respiratory, cardiovascular, immunological, hematological, neurological and reproductive/ developmental systems. Some studies have found increases in respiratory and cardiovascular problems at outdoor pollutant levels well below standards set by such agencies as the US EPA and WHO. Air pollution is associated with large increases in medical expenses, morbidity and is estimated to cause about 800,000 annual premature deaths worldwide [Cohen, A

ABSTRACT OBJECTIVE. Antenatal hydronephrosis is diagnosed in 1% to 5% of all pregnancies; however, the antenatal and postnatal management of hydronephrosis varies widely. No previous studies define the risk of postnatal pathology in infants with antenatal hydronephrosis. Our objective was to review the current literature to determine whether the degree of antenatal hydronephrosis and related antenatal ultrasound findings are associated with postnatal outcome.

We report two cases of deletion 5p or cri du chat syndrome (CdCS) with different presentations and risks of transmission: one case with paternal chromosome 5 involvement and another, a de novo case with atypical clinical presentation. Cytogenetic analysis was performed on the two cases and their parents. GTG-banded karyotype analysis of Cases 1 and 2 revealed abnormal 46,XY,del(5)(p13-15) male karyotypes. For Case 1, the mother showed normal female karyotype while the father showed an abnormal karyotype involving a balanced translocation 46,XY,t(5;10)(p13;p15). For Case 2, however, both parents showed a normal karyotype pattern. In Case 1, the clinical features, particularly the distinct facial phenotype in combination with a characteristic cat-like cry and hypotonia, aided in the diagnosis at birth and the karyotype analysis was resolutive. The boy in Case 2 presented with atypical clinical features. Even though this patient had multiple syndromic features, the typical high pitched...