Common Type Of Congenital Anomaly Research Articles

Prevalence and associated factors of congenital anomalies in Ethiopia: A systematic review and meta-analysis.

Congenital anomalies represent a significant contributor to infant mortality, morbidity, and enduring disability. With this in mind, the present investigation endeavour to ascertain the pooled prevalence of congenital anomalies and associated determinants among neonates in Ethiopia. PubMed, Google Scholar, CINAHAL, Hinari, and Global Health databases were systematically searched. Joanna Briggs Institute (JBI) assessment checklist was used to assess quality of included studies. Data were extracted from database and exported to stataMP-17 for analysis. Pooled prevalence was determined using DerSimonian-Laird random effects model. The degree of heterogeneity and Publication bias were assessed using I2 statistics and Eggers test, respectively. Study protocol was registered under PROSPERO ID CRD42021229140. A total of 18 studies with 519,327 participants were included in the study. Pooled prevalence of congenital anomalies in Ethiopia was 2% (95% CI: 0.02, 0.03%). Among affected newborns neural tube defect (48%) was the most common congenital anomaly in Ethiopia, followed by orofacial cleft (19%). Risk factors such as alcohol consumption (pooled OR: 2.28, 95% CI: 1.54, 3.38), lack of folic acid supplement (pooled OR: 2.83, 95% CI: 1.09-7.36), medication during pregnancy (pooled OR: 2.58, 95% CI: 1.03-6.47), khat (Catha edulis) chewing (pooled OR: 2.44, 95% CI: 1.61-3.71), exposure to pesticides (pooled OR: 4.45, 95% CI: 2.44-8.09) and maternal illness (pooled OR:1.79, 95% CI: 1.03, 3.10) had statistically significant association with congenital anomalies in Ethiopia. In this review, prevalence of congenital anomalies in Ethiopia was high with considerable regional variation. The most common type of congenital anomaly in Ethiopia was neural tube defects, followed by oro-facial cleft. Alcohol consumption, inadequate intake of folic acid, khat chewing, maternal diseases, exposure to pesticides, and use of medication during pregnancy were identified as potential contributors to congenital abnormalities in Ethiopia.

Genetic Analysis of the Single-Nucleotide Polymorphisms rs880810, rs545793, rs80094639, and rs13251901 in Nonsyndromic Oral Clefts: A Case-Parent Trio Study.

Oral clefts, including cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP), are the most common types of congenital anomalies of the human face. Various genetic and environmental factors play a role in developing oral clefts. Several studies have shown the association of the PAX7 gene and the 8q24 region with these oral clefts in different populations worldwide. However, there are no reported studies on the possible connection between the PAX7 gene and the 8q24 region nucleotide variants and the risk of developing nonsyndromic oral clefts (NSOC) in the Indian population. Hence, this study aimed to test the possible association between PAX7 gene single-nucleotide polymorphisms (SNPs) rs880810, rs545793,rs80094639, and rs13251901 of the 8q24 region using a case-parent trio design. Forty case-parent trios were selected from the CLP center. Genomic DNA was isolated from the cases and their parents. The rs880810, rs545793, rs80094639, and rs13251901 were genotyped by the MassARRAY technique. PLINK software was used for statistical analysis. All the SNPs were tested for Hardy-Weinberg equilibrium. No statistical significance was found with any SNPs, as none of the genotyped SNPs showed a p -value of less than 0.05. Hence, the rs880810, rs545793, and rs80094639 of the PAX7 gene, and rs13251901 of the 8q24 region are not associated with NSOC in the Indian population.

A RETROSPECTIVE ANALYSIS OF THE PATTERN OF SURGICAL CONGENITAL MALFORMATIONS IN NORTH EASTERN INDIA

Background: Congenital anomalies (CAs) originate during intrauterine life and interfere with the body functions. CAs are important causes of childhood mortality, chronic illness, and disability. Aim: The study aimed to understand the pattern of surgical congenital malformations in paediatric patients of Tomo Riba Institute of Health and Medical Sciences (TRIHMS) hospital and other nearby hospitals for twelve consecutive years (2007–2019). Methods: This is a retrospective study of 1459 patients (age range 0-14 years) operated at TRIHMS and nearby hospitals of Naharlagun. We collected the data from Operation theatre registers and personal records of operating surgeons from the year 2007 to 2019. Results: The study revealed that congenital anomalies of the gastrointestinal (48.8%), genitourinary system (45.4%), and musculoskeletal system (1.9%) were the most common types of CAs. Males were more affected with CAs than females (73.8% versus 26.2%). Conclusion:Congenital malformations of the gastro-intestinal and genitourinary systems were the most common types of CAs in the hospitals. To prevent CAs, there is a need to restrict the prescription of medications that may have a teratogenic effect.

КОРОНАРНО-ПУЛЬМОНАЛЬНАЯ ФИСТУЛА

Coronary arteriovenous fistula (CAF) is a rare form of congenital heart disease. However, it is the most common type of congenital anomaly of the coronary arteries. [1] When there is the connection between the coronary artery and the chambers of the heart, it is called a coronary chamber fistula. The fistula may also be between a coronary artery and another adjacent vessel from the pulmonary or systemic circulation. An open fistula provides low-resistance flow by directing blood from an artery into a vein, heart chamber, or other low-pressure vessel such as the pulmonary artery. Patients with CAF may develop symptoms at birth or later in life, depending on the type of fistula and the presence of collateral circulation. Studies have reported an association between ventricular arrhythmias and sudden cardiac death syndromes in young adults and athletes with certain types of coronary anomalies, such as anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) [2-5]. The most common symptom is a myocardial ischemia. The purpose of this article is to present a clinical case of endovascular treatment of coronary pulmonary fistula. As a result of a modern diagnostic methods, such as CT angiography with three-dimensional reconstruction, it is not difficult to assess the degree and nature of the pathology. Having assessed the tactics, modern doctors are able to cope with coronary arteriovenous fistulas with great success using minimally invasive X-ray endovascular technologies.

Gynecologic Considerations for Adolescents and Young Women With Cardiac Conditions: ACOG Committee Opinion Summary, Number 813.

Congenital heart conditions are the most common type of congenital anomaly, affecting nearly 1% of U.S. births, or approximately 40,000 neonates, each year. As more female patients with congenital heart disease enter adolescence and adulthood, there is a growing need to address reproductive health in this population. Addressing contraceptive needs is particularly important for adolescents and young women with congenital heart disease, many of whom may have limited knowledge about how their condition or medications may affect their long-term health, including reproductive health. Decisions regarding the most appropriate contraceptive method require discussion of future pregnancy desires and personal preferences, as well as critical assessment of the patient's underlying disease and the relative risks and benefits of the contraceptive option. Because of the morbidity associated with pregnancy in individuals with cardiac conditions, the initiation of contraception should not be delayed due to concerns about potential contraindication. For those patients with valvular heart disease, cardiomyopathy, or hypertension, it is reasonable to initiate a progestin-only method until clarification of the safety of an estrogen-containing method is determined in conjunction with the patient's cardiologist. Contraceptive counseling should be patient-centered, free of coercion, and should address the most common misperceptions about contraceptive methods in a way that is age-appropriate and compatible with the patient's health literacy. To optimize maternal and infant health outcomes, planning for future pregnancies in these patients should be done in collaboration with maternal-fetal medicine subspecialists and cardiology specialists. Patients who continue their pregnancy should be referred to a pregnancy heart team.

Gynecologic Considerations for Adolescents and Young Women With Cardiac Conditions: ACOG Committee Opinion, Number 813.

Congenital heart conditions are the most common type of congenital anomaly, affecting nearly 1% of U.S. births, or approximately 40,000 neonates, each year. As more female patients with congenital heart disease enter adolescence and adulthood, there is a growing need to address reproductive health in this population. Addressing contraceptive needs is particularly important for adolescents and young women with congenital heart disease, many of whom may have limited knowledge about how their condition or medications may affect their long-term health, including reproductive health. Decisions regarding the most appropriate contraceptive method require discussion of future pregnancy desires and personal preferences, as well as critical assessment of the patient's underlying disease and the relative risks and benefits of the contraceptive option. Because of the morbidity associated with pregnancy in individuals with cardiac conditions, the initiation of contraception should not be delayed due to concerns about potential contraindication. For those patients with valvular heart disease, cardiomyopathy, or hypertension, it is reasonable to initiate a progestin-only method until clarification of the safety of an estrogen-containing method is determined in conjunction with the patient's cardiologist. Contraceptive counseling should be patient-centered, free of coercion, and should address the most common misperceptions about contraceptive methods in a way that is age-appropriate and compatible with the patient's health literacy. To optimize maternal and infant health outcomes, planning for future pregnancies in these patients should be done in collaboration with maternal-fetal medicine subspecialists and cardiology specialists. Patients who continue their pregnancy should be referred to a pregnancy heart team.

Pattern of congenital anomalies at birth and their correlations with maternal characteristics in the maternity teaching hospital, Erbil city, Iraq

BackgroundCongenital anomalies are a worldwide problem, causing perinatal and infant deaths and postnatal physical disabilities. This study aimed to determine the pattern and associated factors of the congenital anomalies in newborns delivered at the Maternity Teaching Hospital, Erbil city.MethodsAll the births occurring in the labor room of the Maternity Teaching Hospital in Erbil city, Kurdistan region, Iraq between 1st April 2015 and the end of March 2016 were recorded. All babies with congenital anomalies were identified. The rate and common types of congenital anomalies were estimated. A case-control study was conducted involving all women who had babies with congenital anomalies and the same number whose babies had no congenital anomalies. Data were collected using a structured questionnaire.ResultsOf the 35,803 recorded births in the Maternity Teaching Hospital, Erbil, 130 women delivered babies with at least one congenital anomaly, giving a rate of 3.63/1000 deliveries. The most common area for anomalies was the central nervous system (37.7%) followed by the musculoskeletal (23.1%) and gastrointestinal systems (20.8%). There was a statistically significant association between having a child with congenital anomalies and a maternal history of previous congenital anomalies (odds ratio [OR] 59.0, 95% CI 5.74–607.0), parental consanguinity (OR 6.26, 95% CI 2.42–16.19), and history of medical disorders (OR 153.2, 95% CI 25.9–905.4). Maternal occupation and smoking did not have any influence to develop congenital anomalies (OR 0.69, 95% CI 0.12–3.97 and OR 1.22,95% CI 0.19–7.93).ConclusionAnomalies were most likely to be in the central nervous system. Maternal history of previous congenital anomalies, parental consanguinity, and history of medical disorders were the most important factors associated with congenital anomalies. This study provides baseline information for future prevention and better management of patients likely to have babies with congenital anomalies. More research is required to identify the factors responsible for the different types of congenital anomalies.

In utero exposure to arsenic in tap water and congenital anomalies: A French semi-ecological study.

Congenital anomalies (CA) are responsible for high rates of mortality and long-term disabilities. Research on their risk factors including environmental factors is needed. Studies on exposure to arsenic (As) in tap water and the risk of CA have not provided conclusive evidence, particularly when levels of exposure were low (from 10 to 50 μg As/L). The main objective of this study was to assess the association between exposure to As in tap water and the risk of any major CA. The secondary objectives were to assess this association for the most common types of congenital anomalies (in the heart, musculoskeletal, urinary and nervous systems). A semi-ecological study was conducted from births recorded at the University Hospital of Clermont-Ferrand, France, in 2003, 2006 and 2010. The medico-obstetric data were available at individual level. Children with congenital anomalies were identified from the database of the regional registry of congenital anomalies: the Centre d'Etudes des Malformations Congénitales Auvergne (CEMC-Auvergne). As exposure was estimated from the concentrations of As measured during sanitary control of tap water supplied in the mothers' commune of residence (aggregate data). French guidelines for As in tap water were used to identify the two groups: "≥ 10 μg As/L group" and "[0-10) μg As/L group". Multivariable logistic regression models were fit. 5263 children (5.1% with a CA) were included. In stratified analysis by gender of the child, positive associations between As exposure exceeding 10 μg/L and risk of any major CA (adjusted OR = 2.41; 95%CI: 1.36-4.14) and of congenital heart anomalies (adjusted OR = 3.66; 95%CI: 1.62-7.64) were only shown for girls. No association was found for boys. This French semi-ecological study provides additional arguments for the association between exposure to As exceeding 10 μg/L in tap water and the risk of CA especially in a context of low exposure. Further studies are needed to better understand the interaction between arsenic exposure and child gender.

Associated anomalies in cases with esophageal atresia.

Esophageal atresia (EA) is a common type of congenital anomaly. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Infants with esophageal atresia often have other non-EA associated congenital anomalies. The purpose of this investigation was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in cases with EA were collected in all livebirths, stillbirths, and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations. Of the 116 cases with esophageal atresia, representing a prevalence of 2.99 per 10,000, 54 (46.6%) had associated anomalies. There were 9 (7.8%) cases with chromosomal abnormalities including 6 trisomies 18, and 20 (17.2%) nonchromosomal recognized dysmorphic conditions including 12 cases with VACTERL association and 2 cases with CHARGE syndrome. Twenty five (21.6%) of the cases had multiple congenital anomalies (MCA). Anomalies in the cardiovascular, the digestive, the urogenital, the musculoskeletal, and the central nervous systems were the most common other anomalies. The anomalies associated with esophageal atresia could be classified into a recognizable malformation syndrome or pattern in 29 out of 54 cases (53.7%). This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for anomalies was continued until 2 years of age. In conclusion the overall prevalence of associated anomalies, which was close to one in two cases, emphasizes the need for a thorough investigation of cases with EA. A routine screening for other anomalies may be considered in infants and in fetuses with EA.

Pattern of fetal congenital anomalies among consanguineous marriages in Cairo University Hospitals

Background Congenital anomalies – that is, any malformation that occurs in the developing fetus – is one of the major childhood health problems. Objective The aim of the study was to examine the pattern of fetal congenital anomalies in consanguineous marriages. Participants and methods This cross-sectional study included 150 pregnant women from consanguineous marriages with fetal congenital anomalies. They were recruited from the Fetal Medicine Unit at Cairo University Hospital. A structured interview was conducted to collect data on sociodemographic characteristics, medical history, and past obstetric history. An ultrasonographic examination was performed for anatomical scanning of the fetus to screen for the presence of congenital anomalies, in addition to fetal biometry. Results The central nervous system was the most commonly affected system (44%), followed by the musculoskeletal system (23%). Multiple anomalies were detected in 52.7% of the fetuses; they were significantly more common in first-degree consanguineous marriages (P=0.001). The most common types of congenital anomalies among fetuses from consanguineous marriages were cleft palate, bilateral cleft lip, hydronephrosis, and unilateral cleft lip. Conclusion Multiple-system malformations were significantly associated with first-degree consanguineous marriages.

Folic acid fortification and the birth prevalence of congenital heart defect cases in Alberta, Canada

Congenital heart defects (CHDs) are the most common type of congenital anomaly. The precise etiology is unknown and the development of successful primary prevention strategies is challenging. Folic acid may have a protective role; however published results have been inconsistent. This study examines the impact of mandatory folic acid fortification (FAF) on the prevalence of CHDs. CHD cases were ascertained using the Alberta Congenital Anomalies Surveillance System, Pediatric Cardiology Clinics, Pathology, and hospital records. The birth prevalence and odds ratios (OR) of isolated CHD cases (i.e., without noncardiac anomalies) were calculated comparing pre-FAF (1995-1997) with post-FAF (1999-2002). The prevalence of isolated CHD cases remained relatively unchanged when pre-FAF (9.34, 95% confidence interval [CI] 8.79-9.92) was compared with post-FAF (9.41, 95% CI, 8.93-9.91). Left ventricular outflow tract obstruction (LVOTO) decreased post-FAF (OR, 0.76; 95% CI, 0.61-0.94). Coarctation of the aorta contributed to this decline (OR, 0.55; 95% CI, 0.32-0.92). Atrial septal defect (ASD) (OR, 1.42; 95% CI, 1.13-1.80) and ASD with ventricular septal defect (OR, 1.52; 95% CI, 1.10-2.10) increased post-FAF. The remaining types of CHDs were unchanged. FAF alone does not have an impact on the prevalence of CHDs as a group and the majority of selected types of CHDs in Alberta. The decrease in LVOTO, particularly coarctation of the aorta, may be due to FAF or other environmental factors. The increase in ASD and ASD with ventricular septal defect may reflect an increase in diagnosis and ascertainment.

Congenital heart defect case ascertainment by the Alberta Congenital Anomalies Surveillance System

Congenital heart defects (CHDs) are the most common type of congenital anomaly, with a wide range of reported birth prevalence estimates. This quality assurance study describes CHD case ascertainment by the Alberta Congenital Anomalies Surveillance System (ACASS). ACASS data for CHD cases were compared with additional sources including the two Pediatric Cardiology clinics in Alberta, the Alberta Children's Hospital Department of Pathology, and hospital records. Cases included live births, stillbirths, and fetal deaths at less than 20 weeks' gestation born in Alberta, Canada, between 1995 and 2002. The birth prevalence of cases and chi-square linear trend analyses were calculated for specific types of heart defects for the total study period. The ascertainment of CHD cases by ACASS was 45%. The total prevalence of CHD cases was 5.59 per 1000 total births (TBs; 95% confidence interval [CI], 5.32-5.86) when ACASS was the only data source and increased to 12.42 per 1000 TBs (95% CI, 12.03-12.83) when all data sources were used. Although the total prevalence of CHD cases remained stable during 1995 to 2002, the prevalence of atrial septal defect (ASD) and cases with an ASD and ventricular septal defect (VSD) significantly increased. The prevalence of left ventricular outflow tract obstruction cases significantly decreased during the study period. Pediatric cardiology clinics are worth including as additional ascertainment sources to contribute to more accurate prevalence estimates. The significant increases of ASD and cases with both an ASD and VSD may reflect differences in diagnostic and ascertainment practices.

Treatment of Infantile hemangioma by ND YAG laser.

Hemangiomas one of the most common type of congenital anomaly in childhood. Although many resolve spontaneously but intervenation is required when their growth could damage vital adjacent structure. It is characterized by an initial phase of rapid proliferation followed by slow involution, often leading to complete regression. Many therapeutic approaches for hemangiomas with different types of laser such as CO2 laser PDL, KTP and ND-YAG laser have been used .The aim of this study is to determined the efficacy of Nd YAG laser in the treatment of infantile hemangiomas. PATIENTS & Methods:This study include 18 patients aged 3 months to 2 years with cutaneous hemangiomas were treated with a Nd: YAG laser. The laser power was between 26- 30 joules with a pulse length 50 ml second. The lesion was cooled with dynamic cooling device (DCD) 30 ml second prior plus shots.The number of sessions was ranged from 4 to 12sessions with two weeks interval. Results:After 6 months of follow-up of laser treatment, excellent response was seen in 6 patients (33.3 %), very good response was seen 6 patients (33.3 %), good response was seen in 5 patients(27.77 %), and poor response was seen in 1 patient ( 5.55 %). Complications were seen in 3 patients 1 with bleeding and 2 with scar. Conclusions:Nd: YAG laser irradiation produces good cosmetic results for the treatment of cutaneous hemangiomas in Egyptian infants.

Treatment of Infantile hemangioma by ND YAG laser.

Hemangiomas one of the most common type of congenital anomaly in childhood. Although many resolve spontaneously but intervenation is required when their growth could damage vital adjacent structure. It is characterized by an initial phase of rapid proliferation followed by slow involution, often leading to complete regression. Many therapeutic approaches for hemangiomas with different types of laser such as CO2 laser PDL, KTP and ND-YAG laser have been used .The aim of this study is to determined the efficacy of Nd YAG laser in the treatment of infantile hemangiomas. PATIENTS & Methods:This study include 18 patients aged 3 months to 2 years with cutaneous hemangiomas were treated with a Nd: YAG laser. The laser power was between 26- 30 joules with a pulse length 50 ml second. The lesion was cooled with dynamic cooling device (DCD) 30 ml second prior plus shots.The number of sessions was ranged from 4 to 12sessions with two weeks interval. Results:After 6 months of follow-up of laser treatment, excellent response was seen in 6 patients (33.3 %), very good response was seen 6 patients (33.3 %), good response was seen in 5 patients(27.77 %), and poor response was seen in 1 patient ( 5.55 %). Complications were seen in 3 patients 1 with bleeding and 2 with scar. Conclusions:Nd: YAG laser irradiation produces good cosmetic results for the treatment of cutaneous hemangiomas in Egyptian infants.

Clinical Characteristics And Treatment Modalities Of Childhood Hemangiomas

Hemangiomas are the most common type of congenital anomaly in childhood. Fortunately, most hemangiomas only grow to small size and do not cause problems. However, there is a small subset of hemangiomas that destroy tissue or endanger the infant's life, either because of tumor's size, location or agressive growth. The pathogenesis of hemangiomas is not well understood, but recent findings suggest a unique vascular phenotype with dysregulated vascular homeostasis. This article reviews new information regarding the pathogenesis of these tumors and highlights the more worrisome presentations, including syndromic hemangiomas, that are likely to be problematic. In addition, management strategies and treatment options are discussed.

Duplicated Ureter with an Ectopic Ureteral Orifice in a Middle Aged Female Who Complained of Vaginal Discharge

Woong Ki Jang, Jin Ha Lee, Yong Kyu Lee, Young Kwon Hong From the Department of Urology, College of Medicine, Pochon CHA University, Seongnam, Korea Duplication is the most common type of congenital anomaly of the ureter. It occurs more frequently in females and it is often accompanied by an ectopic orifice. Ectopic ureter is usually derived from the upper pole of the ipsilateral kidney and its orifice is attached medial & inferior from the normal opening according to Weigert-Meyer's law. Thus, sometimes the ectopic ureteral opening is made at a distal part of the external sphincter or even out of the urinary system. These conditions may result in urinary incontinence in female patients, so they can be treated early at the mean age of 5 and it's not common that ectopic ureter accompanying complete duplication of the ureter is presented in adults. We report here on a case of ectopic ureter accompanying complete duplication of the ureter in a 44 year old female who presented with leukorrhea. (Korean J Urol 2007;48:1182-1185) 󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏󰠏

Triplication of colon with diphallus and complete duplication of bladder and urethra

Gastrointestinal duplications are a common type of congenital anomaly usually restricted to one part of the gut. Triplication of colon is a rare variation of duplication of the hindgut. Hindgut duplications are commonly associated with anomalies of other derivatives of the cloaca, namely, the lower genitourinary system. Here, we describe a child with triplication of colon with associated duplication of bladder and urethra and diphallus. The child described here is the only reported survivor with triplication.

Treatment of hemangiomas in children using a Nd:YAG laser in conjunction with ice cooling of the epidermis: techniques and results.

BackgroundHemangiomas are the most common type of congenital anomaly in childhood. Although many resolve spontaneously, intervention is required when their growth could damage vital adjacent structures. Various therapeutic approaches to childhood hemangiomas with different types of laser have been described previously. The objective of this study was to determine whether the cooling of the epidermis during irradiation of hemangiomas with a Nd:YAG laser prevents thermal damage and decreases the number of sessions required to treat these lesions.MethodsBetween 1993 and 2001, 110 patients aged 3 months to 4 years, with cutaneous hemangiomas were treated with a Nd:YAG laser. The lesion was cooled with ice prior to, during, and after the irradiation. During each session the laser beam passed through the pieces of ice. The laser power was between 35–45 W with a pulse length of 2–10 seconds.ResultsAfter 6 months of follow-up, from the first session of laser treatment, total resolution was obtained in 72 (65.5%) patients. A second or third session followed in 30 out of 38 patients in which, the initial results were good, moderate, or poor. The parents of the remaining eight children refused this second session and these patients excluded from the study Complications were seen in nine (8.8%) patients. One patient had postoperative bleeding which stopped spontaneously, while atrophic scars occurred in six (5.8%) patients, and hypertrophic scars in two (1.9%) patients.ConclusionsNd:YAG laser irradiation in conjunction with ice protection of the epidermis produces good cosmetic results for the treatment of cutaneous hemangiomas in children, and decreases the number of sessions for treatment of these lesions.

Chromosomal radiosensitivity of Down syndrome lymphocytes at different stages of the cell cycle.

Down syndrome (DS) is one of the most common types of congenital anomalies. In addition to a wide spectrum of developmental abnormalities, DS patients are also highly sensitive to the induction of chromosomal aberrations when their GO lymphocytes are exposed to ionizing radiation. We conducted the present study to evaluate the effect of X-rays on proliferating lymphocytes from DS and normal individuals. We found that DS lymphocytes were significantly more sensitive to X-ray induction of chromosome aberrations than normal cells, when they were irradiated at the G0, G1 and S phases of the cell cycle. The S phase was the most radiosensitive phase and would lead to extensive cell killing, whereas the G1 phase seemed to be more prone to the induction of chromosome rearrangements that would potentially lead to serious long-term consequences.

Diseases of the mitral valve in infancy. An anatomic analysis of 55 cases.

A pathologic study of mitral valvular lesions among 55 infants revealed 29 cases in which the mitral valve was the site of a primary congenital malformation and 26 cases in which the mitral lesion was an acquired infarction of papillary muscles secondary to some other malformation. Among the 29 cases with primary congenital anomalies of the mitral valve, there were 41 lesions represented. Congenital anomalies were identified according to the four components of the valve as follows: leaflets, commissures, chordae tendineae, and papillary muscles. The most common basis for primary congenital mitral valvular disturbance was an abnormality of the papillary muscles. In this group, parachute mitral valve and abnormal position of papillary muscles associated with endocardial fibroelastosis were most common (eight and 10 examples, respectively). Anomalous mitral arcade and obstructing papillary muscles were observed four and three times, respectively. Involvement of leaflets was the second most common type of congenital anomaly, being observed 11 times. In this group, in order of decreasing frequency, were supra-valvular ring (five cases), accessory mitral valvular tissue (three cases), "Ebstein's" malformation of the left atrioventricular valve in corrected transposition (two cases), and cleft mitral valve (one case). Commissural fusion was observed once and, in two cases, involvement of multiple components of the valve was observed. Among the 26 examples of infarction of papillary muscles, exclusive of 10 cases with endocardial fibroelastosis, the fundamental congenital anomalies included aortic stenosis (15 cases), coarctation of the aorta (six cases), and anomalous origin of the left coronary artery from the pulmonary trunk (five cases).