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Byline: M. Eronen (1), E. Kajantie (2,3), T. Boldt (1), O. Pitkanen (1), K. Aittomaki (3) Keywords: Isomerism; Heterotaxy; Asplenia; Recessive inheritance; Left--right axis Abstract: Heterotaxy syndromes, right or left atrial isomerism, result from disruption of left--right axis determination and their manifestations include complicated heart defects. Recent studies in model organisms have revealed complex genetic pathways and several genes involved in this process. In affected humans, however, molecular studies have identified mutations in a small number of individuals, while in most the cause remains unknown. Furthermore, although family data suggest, autosomal recessive inheritance, such genes have not yet been identified. We have studied six members of a family, four children affected with right atrial isomerism (RAI) and their healthy parents, for disturbances of left--right axis development. The children, one female and three males who all had complicated heart defects, succumbed and had an autopsy. Their nonconsanguineous parents were examined by cardiac and abdominal ultrasound or MRI. In all four children the heart defects included single ventricle with dysplastic atrioventricular (AV) valve, total anomalous pulmonary venous drainage (TAPVD), and malposition of great arteries (MGA) with pulmonary stenosis (PS). All had asplenia two also had dextrocardia and abdominal situs inversus. The diagnosis of RAI was made postnatally in the first child and prenatally in others. Two siblings had no surgery and died as a newborn, one with obstructed supracardiac TAPVD and the other with regurgitating AV valve. Two children underwent heart surgery. One had repair of obstructive infracardiac TAPVD but died in infancy. The other underwent both hemi-Fontan operation and heart transplantation but died at the age of 2 years. This is the first report describing four children with RAI in the same family. The occurrence of RAI in male and female siblings without any indication of left--right axis abnormalities in their parents suggests autosomal recessive inheritance of human isomerism. Author Affiliation: (1) Division of Pediatric Cardiology, The Hospital for Children and Adolescents, Helsinki, Finland (2) The Hospital for Children and Adolescents, Helsinki, Finland (3) Department of Medical Genetics, University of Helsinki, Helsinki, Finland Article History: Registration Date: 01/01/2003 Online Date: 04/12/2003

Byline: M. Eronen (1), P. Heikkila (2), K. Teramo (3) Keywords: Key words: Fetus -- Congenital heart block -- Hemodynamics Abstract: Congenital heart block (CHB) can result in intrauterine cardiac failure leading to fetal or neonatal loss. To establish perinatal hemodynamic factors which might predict adverse outcome, six fetuses with CHB diagnosed between 20 and 30 gestational weeks were examined by echocardiography at 2-week intervals. Neonatal morbidity and outcome in infancy are detailed. The fetuses showed a significant decrease in ventricular rate (VR) with advancing gestation (60 +- 7 vs 51 +- 4 beats/min, p= 0.03). Cardiac decompensation defined as hydrops or pericardial effusion was associated with VR of lower than 55 beats/min in two fetuses. Three mothers had a therapeutic trial with a sympathomimetic and digoxin. Salbutamol increased VR 10% in one of three fetuses treated. Digoxin decreased pericardial effusion in one hydropic fetus with autoimmune myocarditis. In this fetus, poor left ventricular fractional shortening (LVFS) was accompanied with high umbilical artery resistance index (RI). High amniotic fluid erythropoietin indicated severe hypoxia preceding death. Pacemaker was indicated in all the newborns. At the age of 2 weeks all the surviving infants had tricuspid regurgitation and a shunt through foramen ovale due to asynchronized atrioventricular contraction. During the 12-month follow-up two of five surviving infants had no symptoms. One had symptomatic neonatal lupus. Two infants had patent ductus arteriosus, one with dilated cardiomyopathy. In conclusion, poor fetal outcome was associated with low VR, low LVFS, and high RI. Despite early pacing, morbidity was high in infancy due to cardiomyopathy and associated heart defects. Regular echocardiographic monitoring during pregnancy and after delivery is required in order to optimize care and timing of any interventions. Author Affiliation: (1) The Hospital for Children and Adolescents, Helsinki University Hospital, Stenbackinkatu 11, 00290 Helsinki, Finland, FI (2) HUCH Diagnostics, Division of Pathology, Helsinki University Hospital, Stenbackinkatu 11, 00290 Helsinki, Finland, FI (3) Department of Obstetrics and Gynecology, Helsinki University Hospital, Haartmaninkatu 2, 00290 Helsinki, Finland, FI

Byline: M. Eronen (1) Keywords: Key words: Congenital heart block -- Cardiomyopathy -- Heart defects Abstract: The aims of this study were to assess morbidity, mortality, and long-term cardiac outcome of children with congenital complete heart block (CHB) diagnosed between the ages of 3 months and 15 years. The study population consists of 61 children with CHB diagnosed in five tertiary referral centers in Finland. There were two study groups: CHB diagnosed 3 months to 2 years of age (group 1 n= 29) and CHB diagnosed between the age of 2 and 15 years (group 2 n= 32). Neonatal morbidity was significantly higher in group 1 than in group 2 (p= 0.047). In the whole study population, permanent pacemaker implantation with the main indications of low ventricular rate and syncope (52%) was performed in 80% of cases, with a median age of 11.2 years. Structural heart defect not causally associated with CHB was evident in 9 of 61 patients (15%). Of 8 patients with atrial septal defect (ASD) secundum, 6 (75%) were operated on and 7 (88%) were paced. One patient had small ventricular septal defect. The incidence of dilated cardiomyopathy was 7%. The mortality with cardiomyopathy was very high (75%). Of the 61 children, 3 (5%) died due to cardiomyopathy at the ages of 2, 26, and 31 years. In the long-term follow-up of 17 years (median, range 2.9--46 years) 17% of patients who survived had cardiac problems: arrhythmias in 5, mitral valve insufficiency in 3, ASD secundum in 1, and cardiomyopathy in 1. The long-term outcome did not depend on the age at which CHB was diagnosed. In conclusion, CHB diagnosed after the newborn period carries relatively low mortality and morbidity. Pacemaker application was indicated in most children. The possibility of an associated heart defect or dilated cardiomyopathy indicates regular echocardiographic monitoring in all children and young adults with CHB. Author Affiliation: (1) Hospital for Children and Adolescents, Helsinki University Hospital, Stenbackinkatu 11, 00290 Helsinki, Finland, FI

Byline: M. Eronen (1), M. Pohjavuori (1), S. Andersson (2), E. Pesonen (1), K.O. Raivio (1) Keywords: Key words: Prostacyclin -- Primary pulmonary hypertension -- Neonate -- Doppler ultrasonography Abstract: To study the effect of prostacyclin treatment on pulmonary arterial pressure (PAP), systolic pressure (BP), and systemic oxygenation, eight infants with persistent pulmonary hypertension of the newborn (PPHN) born between 34 and 42 weeks' gestation and having a birth weight of 2540--4130 g were studied using Doppler echocardiography. At a mean age of 19 hours (range 3--32 hours), despite maximal ventilator therapy and an FiO.sub.2 of 1.0, the mean PaO.sub.2/PAO.sub.2 was 0.07 (range 0.04--0.09) and the AaDO.sub.2 was 616 mmHg (range 521--654 mmHg). After volume correction and during inotropic medication with dopamine and dobutamine, the mean PAP by echocardiography was 68.6 +- 6.5 mmHg and the mean BP 59.8 +- 4.8 mmHg. Prostacyclin infusion was then started at a dose of 20 ng/kg/min and increased stepwise to a mean dose of 60 ng/kg/min (range 30--120 ng/kg/min) over 4--12 hours, at which time PAP decreased to 49.2 +- 3.5 mmHg (p= 0.0005) and BP to 53.2 +- 9.1 mmHg (p= 0.17) the PAP thereafter remained below the BP. After 72 hours of prostacyclin infusion, PAP was 49.6 +- 18 mmHg, BP 66.1 +- 5.4 mmHg, PaO.sub.2/PAO.sub.2 0.14 +- 0.12, and AaDO.sub.2 428 +- 189 mmHg at FiO.sub.2 0.65. The median duration of prostacyclin infusion was 3.6 days and of respirator treatment 7.0 days. All patients survived without extracorporeal membrane oxygenation. At 6--12 months, none of the patients had severe central nervous system complications, but two had bronchopulmonary dysplasia. These findings indicate that prostacyclin is able to reverse the right-to-left shunt in PPHN by decreasing PAP, and that systemic hypotension can be prevented with adequate volume correction and inotropic medication. Author Affiliation: (1) Division of Pediatric Cardiology, Children's Hospital, University of Helsinki, Stenbackinkatu 11, 00290 Helsinki, Finland, FI (2) Departments I and II of Obstetrics and Gynecology, Children's Hospital, University of Helsinki, Stenbackinkatu 11, 00290 Helsinki, Finland, FI

Byline: M. Eronen (1), P. Heikkila (1) Keywords: Fetal cardiology; Absent aortic valve; Fetal hydrops Abstract: We describe worsening cardiac failure in a hydropic male fetus with a large ventricular septal defect associated with severe pulmonary and mild aortic regurgitation detected prenatally by echocardiography. The hemodynamic transition after emergency cesarean section at 31 weeks of gestation resulted in amelioration of the pulmonary incompetence but exacerbation of aortic insufficiency causing coronary steal. Death followed withdrawal of support 4 hours after delivery. Autopsy revealed absent aortic valve cusps, dysplastic pulmonary valve, and a large ventricular septal defect. Author Affiliation: (1) The Hospital for Children and Adolescents, Division of Pediatric Cardiology and HUCH, Laboratory Diagnostics , Division of Pathology, University Hospital of Helsinki, Finland Article History: Registration Date: 01/01/2002 Online Date: 04/10/2002

Byline: M. Eronen (1), M. Pohjavuori (1), P. Heikkila (1) Keywords: Key words: Idiopathic arterial calcification of infancy -- Fetal echocardiography Abstract: Idiopathic arterial calcification of infancy (IACI) is a rare condition characterized by extensive arterial calcification and stenoses of large and medium-sized arteries. Its complications include severe cardiac failure diagnosed in utero as hydrops fetalis or postnatally as respiratory failure combined with cardiomegaly. Two newborn male siblings with IACI are described. In utero, echocardiography revealed poor ventricular function and hyperechogenic foci in arterial walls. Both had fatal outcome during the newborn period. At autopsy, medial calcifications in the walls of great arteries, in coronary arteries, in glomeruli, and in subendocardium were detected. In addition, an inflammatory process in the shoulder joint was determined to be large periarticular tissue calcifications. Because of an autosomal recessive inheritance pattern of IACI, fetal echocardiography is recommended in future pregnancies of all affected families. Author Affiliation: (1) The Hospital for Children and Adolescents, Stenbackinkatu 11, 00290, Helsinki 29, Finland, FI

Changes to the Arctic region's tundra-taiga boundary are presented for the Ice Age and the climatic warming during the Holocene. Warming produced a rapid tree dispersal; discussion focuses on the environmental geography of different tree species such as larch, spruce and conifers.

This study aims to evaluate the psychosocial factors of neonaticide, especially the circumstances before delivery, the relationships of the pregnant women, and their social environment awareness of women's pregnancy. This nationwide study was register-based, comprising all known neonaticides in Austria and Finland between 1995 and 2005. Cases (n = 28) were obtained by screening the death certificates from coroner's departments and by analyzing them along with all further available reports. Few women (17.9 %, 5/28) admitted their pregnancy to others. Although most (16/28) offenders were in a relationship, the partner had knowledge of the pregnancy in only three cases. The main motive for negation of the pregnancy (named in 60.8 % of cases) was fear of abandonment/negative response from others. The fertility rate among the women was high, but half of those with children had lost the custody of them. In neonaticide, the lack of awareness surrounding offenders' pregnancy, as well as the awareness of social environment, is more relevant than any other social variable.

Alcohol and drugs have been linked to severe violent offending among women as well as men. The purpose of this study was to make a contribution to the limited knowledge of characteristics related to the state of intoxication in violent female offenders. The putative differences in the characteristics of female offenders and their violent offenses in relation to the state of intoxication at the time of the violent offending were examined. Of a nation-wide sample of 109 female offenders found guilty of homicide and other violent crimes and incarcerated in 1999-2000 in Finland, 60 offenders participated in the study. Of these offenders 49 (81.7%) had been intoxicated at the time the of index offenses. These were compared with 11 (18.3%) non-intoxicated offenders using a structured interview, the Structured Clinical Interview II for DSM-IV (SCID-II) and the Hare Psychopathy Checklist-Revised (PCL-R). The prevalence of substance abuse or dependence (73.3% and 0%), personality disorder (89.6% and 36.4%), particularly antisocial personality disorder (66.7% and 0%), as well as a history of criminality (69.4% and 0%) were significantly higher among the intoxicated women than among the non-intoxicated. The PCL-R scores were also significantly higher among the intoxicated offenders than among non-intoxicated offenders. The victims of the intoxicated women (23.9%) were less often emotionally close to the perpetrator than were the victims of the non-intoxicated women (66.6%). No differences emerged between the groups in experiences of childhood and adulthood abuse or stressful life events prior to the index crime. The findings indicate that intoxicated violent female offenders exhibit more of the characteristics previously found in violent men, than do the non-intoxicated female offenders. Moreover, the non-intoxicated group comprises both psychotic non-responsible and non-psychotic, fairly well-adjusted women, who are educated, working or studying at the time of the offense and has no history of criminality. Substance misuse constitutes an obvious risk factor for violent behavior in women, and therefore the prevention should include substance abuse treatment.

Neonaticide is a sad and infrequent crime with possibly a high level of underreporting. The aim of this study was to examine the circumstances of neonaticide, and whether there are subtypes of offenders, or suggestions for prevention. The study was retrospective and register-based using comprehensive nation-wide material of all cases of suspected neonaticide during 1980-2000 in Finland. Out of the 50 suspected cases, 32 women were included in the final analyses as neonaticide offenders. Most women (91%) had concealed their pregnancy, which was not the first for 66%. Most (66%) were not quite sure why they had offended, and the most frequent (63%) method of operation was neglect. Four women were diagnosed psychotic and formed a specific group. We concluded that there might be specific subgroups of offenders - even though our small population limited conclusions. Furthermore, prevention might be heightened. We call for international joint projects for enlarged material to enable grouping, as well as education and discussion among the public and the professionals to prevent neonaticide, unify its jurisprudence and improve the treatment of the offenders.

Six women, 13 to 16 weeks pregnant, and 12 women at 38 to 40 weeks gestation, received oral oxazepam about 12 h before legal abortion, by hysterotomy in the former and before elective caesarean section in the latter group. The concentrations of free and conjugated oxazepam in maternal and fetal plasma were determined by gas-liquid chromatography. In early pregnancy the mean ratio between the plasma concentration of total (free + conjugated) drug in the umbilical cord and a maternal vein was 0.6 whereas in late preganancy the ratio vein was 1.1. Both in early and late pregnancy, the free and glucuronide conjugate of oxazepam were found in the fetus at concentrations which indicated transplacental passage of the parent drug and its metabolite. There was great interindividual variation in the plasma levels both of free and conjugated oxazepam.