[Child abuse from a pediatric perspective]. / Kindesmisshandlung aus pädiatrischer Sicht.

CLINICAL ISSUE: Child abuse is the physical, sexual or emotional maltreatment, or neglect of a child or children. Child maltreatment is defined as any act or series of acts of commission or omission by a parent or other caregiver that results in harm, potential for harm, or threat of harm to a child. Child abuse can occur in a child's home, or in the organizations, schools or communities the child interacts with. There are four major categories of child abuse: neglect, physical abuse, psychological or emotional abuse, and sexual abuse. DIAGNOSTIC WORK-UP: In child abuse, establishing an early diagnosis is essential. Apart from taking a detailed history and performing a meticulous physical examination, including forensic evaluation as indicated, further diagnostic steps (imaging studies, ophthalmic examination/funduscopy, laboratory studies, etc.) may be warranted. PRACTICAL RECOMMENDATIONS: In addition to providing acute medical help, longer-term, multidisciplinary interventions have to be put in place in cases of child abuse. This article summarizes the most important facts pertinent to this subject.

Prenatal diagnosis and management of an intestinal volvulus with meconium ileus and peritonitis.

Fetal intestinal volvulus is a rare but serious finding with a high risk of potential life threatening fetal complications. Delay in diagnosis or treatment can increase mortality and morbidity. We report a case of mild fetal bowel dilatation at 30 weeks of gestation and intestinal volvulus presented by the 'whirl-sign', intestinal perforation and meconium peritonitis with fetal ascites and polyhydramnios at 33 weeks of gestation. This case emphasizes the role of examination of the bowel in third trimester ultrasound and the importance of quick decision to delivery and interdisciplinary perinatal management at suspected fetal volvulus with bowel necrosis and intraabdominal bleeding.

Sexual dimorphism of neonatal lung development.

BACKGROUND: Gender differences in overall neonatal survival and in short term pulmonary outcome have been reported. Furthermore gender differences in childhood chronic lung disorders have been described all in favor of females. METHODS: A typical survey on published data regarding gender differences in lung development has been carried out. RESULTS: 1. Structural aspects of lung development: Lung development is regulated by a number of genes, being differently active in the terminal saccular and alveolar period. Gender differences have been described among others for regulation of vascular-endothelial and platelet derived growth factors (VEGF) and platelet-derived growth factor (PDGF), which are active during early lung development with a permissive effect of estrogens mediated by estrogen receptor beta (ER-ß). 2. Functional aspects of lung development: Functional components of lung development mainly include surfactant synthesis. Regulation of surfactant protein synthesis was shown to be positively regulated by estrogens, thus favoring lung maturation in females. 3. Lung development and pregnancy complications: Inflammatory alterations induced by LPS lead to larger lung volumes under experimental conditions in females, whereas pulmonary prognosis after impaired intrauterine growth is not affected as clearly by gender. CONCLUSION: Epidemiological findings indicating an impaired male prognosis in neonatal lung disorders which can at least in part be explained by above described experimental findings. Increased estrogen concentrations in females acting via ER-ß may be a key for understanding these findings.

Levels of cytokines in umbilical cord blood in small for gestational age preterm infants.

INTRODUCTION: Being born small for gestational age (SGA) can be a reference to intrauterine growth retardation (IUGR) and is associated with increased neonatal morbidity and mortality. In pregnancies complicated by IUGR placental insufficiency is thought to be one of the leading underlying pathogenetic mechanisms. As cytokines appear to be implicated in implantation and -placental development, imbalances in cytokine levels may contribute to pregnancy disorders i. e., IUGR. OBJECTIVE: Cord blood cytokine profiles were analyzed in order to characterize differences in cytokine profiles between SGA and appropriate for gestational age (AGA) preterm infants. METHODS: Cytokine concentrations were measured in venous cord blood of preterm infants delivered by caesarean section without previous labour activity and without signs of maternal or fetal infection. RESULTS: 93 preterm infants were enrolled, 29 SGA preterm infants (GA 31.0 (24.6-36.7) weeks; BW 1080 (315-2010) grams) and 63 AGA preterm infants (GA 33.3 (26.0-36.9) weeks; BW 1790 (760-3570) grams). In both groups multiple cytokines could be detected. Significant differences in cytokine levels between the groups were found for G-CSF, IL-12p40 and IL-8, while levels of IL-1a, IL-6, IL-10, IP-10, MCP-1, MCP-3, MIP-1a and TNF-a were not different. CONCLUSIONS: Alteration of cytokine levels in SGA preterm infants may be involved in the pathogenesis of reduced intrauterine growth as well as in the higher morbidity in these infants. Further studies are needed to get more comprehension of the complex function of cytokines in pregnancies complicated by IUGR.

Pregnancy risk factors for very premature delivery: what role do hypertension, obesity and diabetes play?

PURPOSE: Very premature delivery is a major cause of infant morbidity and mortality. Obesity, diabetes and pregnancy hypertension are known risk factors for pregnancy complications. The study aimed to scrutinize differences of pregnancy complications in a cohort of very premature deliveries compared to a national group. METHODS: In a multicenter study performed between January 2009 and December 2010 including 1,577 very low birth weight (VLBW) infants, we compared parental reported pregnancy problems of VLBW infants with a national cohort (KIGGS). We compared reported pregnancy complications to reasons for premature delivery and neonatal outcome within the group of VLBW infants. RESULTS: While parents of the national cohort reported pregnancy-induced hypertension in 8 %, parents of VLBW infants reported this complication more frequently (27 %). Mothers of the national cohort were significantly younger (1 year), suffered less from obesity, anaemia, diabetes. Regression analysis showed that hypertension (OR = 5.11) and advanced maternal age (OR = 1.03) increased the risk for premature birth. Women with hypertension were likely to experience a clinically indicated premature delivery, had more VLBW infants with a moderate growth restriction, but less multiples and their infants had less intraventricular haemorrhages grade 3 or 4. Otherwise, neonatal outcome was correlated with gestational age but not with the pregnancy complications diabetes, hypertension or obesity. CONCLUSION: Premature birth seems to be correlated to gestational hypertension and associated problems in about » of VLBW infants. Further studies should focus on preventing and treating gestational hypertension to avoid premature delivery and associated neonatal morbidity.

HDR syndrome: a follow-up genotype-phenotype analysis of a de novo missense Thr272Ile mutation in exon 4 of GATA3.

Hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome (MIM 146255) is a rare autosomal dominant disorder caused by mutations in the gene encoding GATA3, a dual zinc-finger transcription factor involved in vertebrate embryonic development. In this clinical case study we report on a follow-up of a phenotype associated with a GATA3 mutation. HDR syndrome was clinically diagnosed at age of 1.5 years in a boy with a de novo heterozygous missense (c.815C→T) mutation, Thr272Ile, in exon 4 of the GATA3 gene. Both parents were negative for Thr272Ile.At age of 17 months, the patient had a weight of 10.7, a body length of 78 cm, and a head circumference of 47.5 cm. By the age of 7 years, growth is age-appropriate, severe bilateral hearing loss (dB 60) was corrected by hearing aids. However, cognitive development (auditory sensory me-mory and language abilities) is at the lower ends of the test scores.In conclusion, a mildly impaired clinical course was achieved by the age of 7 years in a patient with HDR syndrome; this report adds to the body of data on genotype-phenotype analysis in HDR syndrome. ·

Regenerative therapies in neonatology: clinical perspectives.

Regenerative therapy based on stem cells is applied as standard therapy in pediatric oncology. Furthermore, they are frequently used to treat immunodeficiency disorders of infants. For severe neonatal diseases, e. g. hypoxic-ischemic encephalopathy in term neonates or bronchopulmonary dysplasia in preterm infants, animal models have been established. According to some first preclinical results stem cell administration appears as a promising tool to improve the clinical outcome in high-risk infants. Provided the benefit of regenerative therapies can further be evaluated in appropriate preclinical neonate models, carefully controlled clinical trials to assess the significance of regenerative therapies, such as autologous stem cell administration, are indicated.

A 13-year-old girl with arterial hypertension - mid-aortic syndrome.

Mid-aortic stenosis (MAS) is a rare clinical entity that is characterised by profound narrowing of the abdominal aorta. MAS usually presents with severe hypertension. Treatment modalities include antihypertensive medication, angioplasty, and surgery. If adequate treatment is initiated long-term prognosis is favourable. Here, we report on 13-year-old girl with MAS who presented to our hospital with arterial hypertension. Initial diagnostic work-up and treatment in patients with MAS are presented.

Severe respiratory distress syndrome unresponsive to intensive care treatment--diagnostic and therapeutic considerations.

Respiratory Distress Syndrome (RDS) is a common complication in preterm neonates. If RDS is not responding to conventional treatment modalities (surfactant therapy, ventilatory support, etc.), an underlying pathology (pulmonary lymphangiectasia, capillary alveolar dysplasia, alpha-1 antitrypsin deficiency, etc.) other then prematurity should be taken into consideration.Here, we report on a preterm neonate with the unusual simultaneous occurrence of pulmonary and systemic lymphangiectasia and homozygous alpha-1 antitrypsin deficiency who developed severe RDS that was refractory to conventional treatment. The diagnostic and therapeutic approach in this patient is presented.

Serum cytokine levels in neonates with congenital diaphragmatic hernia.

Cytokines play an important role in immune regulation and fetal lung development. The systemic inflammatory response in newborns with congenital diaphragmatic hernia (CDH) has not been characterized so far. We compared various concentrations of cytokines in serum from newborns with CDH and in healthy term neonates. We analyzed cytokine patterns of CDH newborns under extracorporeal membrane oxygenation (ECMO) and mechanical ventilation (MV).38 newborns with CDH were included: ECMO group (n=13) and non-ECMO group (n=25). Healthy term neonates served as controls (n=13). Serum samples were obtained prospectively after birth and during therapy.Concentrations of IFN-α, IL-3,-6,-7,-8,-10, MIP-1α,-1ß and TNF-α in serum of newborns with CDH were higher than in umbilical cord blood of term neonates. Infants with severe CDH requiring ECMO therapy had higher postnatal IL-8,-10, and MIP-1α levels than newborns with milder disease in the non-ECMO treated group. IL-10 progressively decreased during the first 3 days following birth under ECMO. In contrast, the chemokine MIP-1α remained elevated during ECMO therapy compared to mechanically ventilated CDH newborns.The pattern of cytokines in the serum of newborns with CDH showed significant elevations compared to term neonates. Our findings indicate that CDH is associated with systemic inflammatory response immediately after birth. ECMO and MV show a similar increase of IL-1α and IP-10 in CDH newborns assuming a persistent pulmonary inflammatory reaction irrespective of the conducted treatment.

Angiotensin II receptor blocker induced fetopathy: 7 cases.

BACKGROUND: During a period of 12 months 7 newborns with a partially severe fetopathy caused most probably by maternal sartan-intake in pregnancy were treated in 5 German teaching hospitals. Sartans antagonize the effect of angiotensin II at the AT1-receptor and are used to treat arterial hypertension. METHOD: We presented 2 cases at the yearly GNPI meeting 2010 and we were informed about similar cases in other German teaching hospitals which we brought together in this publication. RESULTS: In the presented cases, maternal sartan intake was noticed at different times in pregnancy and was in part discontinued some weeks before delivery. In all pregnancies oligohydramnios was present and fetal kidneys displayed a hyperechogenic structure on ultrasound. The newborns' postnatal course varied: oligohydramnios sequence with lung hypoplasia, arterial hypotension and renal insufficiency were the predominant problems of the first days of life. The majority (4/7) of infants did not survive this period, in other cases there was a complete (1/7) recovery of renal function whereas others survived with renal impairment (2/7), in part requiring chronic dialysis. Further distinctive features seen frequently were disturbances of cranial ossification and flaccid paralysis of hands and feet with deviations as well as sensorineural hearing loss. CONCLUSION: These case reports again underline the hazardousness of maternal sartan intake with potential fatal outcome for the newborn. Though the use of sartans in pregnancy is contraindicated and several case reports of sartan induced fetopathies exist, the risk of sartan treatment generally seems to be underestimated.

[Respiratory disorders in preterm and term neonates: an update on diagnostics and therapy]. / Respiratorische Erkrankungen bei Früh- und Neugeborenen - Aktuelle Diagnostik und Therapie.

Respiratory disorders remain a major problem in postnatal adaptation. In term neonates, an increased incidence of the risk for transient tachypnoea of the neonate has been observed during the past decade, most likely secondary to an increased usage of primary Caesarean section. The disorder is mainly caused by a delayed resorption of foetal lung fluid. Further disorders in term neonates include meconium aspiration syndrome and congenital diaphragmatic hernia leading to impaired gas exchange and pulmonary hypertension. In preterm neonates, respiratory distress syndrome is the main disorder leading to severe acute and long-term impaired gas exchange. Prenatal administration of glucocorticoids and postnatal surfactant therapy remains an established principle in perinatal care for very preterm neonates. The most relevant long-term sequelae, bronchopulmonary dysplasia, is currently being observed in about 15% of preterms with less than 32 weeks of gestation and is associated with severe pulmonary and extrapulmonary consequences. Due to the overall improvement in perinatal care, respiratory disorders still remain a major problem in pulmonary adaptation. However, mortality secondary to neonatal lung failure has been decreased substantially by the improvements in the whole field of perinatal medicine.

Obstetric interventions for babies born before 28 weeks of gestation in Europe: results of the MOSAIC study.

OBJECTIVE: To describe obstetric intervention for extremely preterm births in ten European regions and assess its impact on mortality and short term morbidity. DESIGN: Prospective observational cohort study. SETTING: Ten regions from nine countries participating in the 'Models of Organising Access to Intensive Care for Very Preterm Babies in Europe' (MOSAIC) project. POPULATION: All births from 22 to 29 weeks of gestation (n = 4146) in 2003, excluding terminations of pregnancy. METHODS: Comparison of three obstetric interventions (antenatal corticosteroids, antenatal transfer and caesarean section for fetal indication) rates at 22-23, 24-25 and 26-27 weeks to that at 28-29 weeks and the association of the level of intervention with pregnancy outcome. MAIN OUTCOME MEASURES: Use of antenatal corticosteroids, antenatal transfer and caesarean section by two-week gestational age groups as well as a composite score of these three interventions. Outcomes included stillbirth, in-hospital mortality and intraventricular haemorrhage (IVH) grades III and IV and/or periventricular leucomalacia (PVL) and bronchopulmonary dysplasia (BPD). RESULTS: There were large differences between regions in interventions for births at 22-23 and 24-25 weeks. Differences were most pronounced at 24-25 weeks; in some regions these babies received the same care as babies of 28-29 weeks, whereas elsewhere levels of intervention were distinctly lower. Before 26 weeks and especially at 24-25 weeks, there was an association between the composite intervention score and mortality. No association was observed at 26-27 weeks. For survivors at 24-25 weeks, the intervention score was associated with higher rates of BPD, but not with IVH or PVL. CONCLUSIONS: There are large differences between European regions in obstetric practices at the lower limit of viability and these are related to outcome, especially at 24-25 weeks.

Increased intracranial pressure caused by non-space-occupying arachnoid cysts: report of two patients.

In this article we report on two patients with arachnoid cysts previously treated by shunt implantation presenting with clinical signs of an increased intracranial pressure i. e., papilledema, headache and nausea. Repeated MRI scans showed no alteration of the cerebrospinal fluid circulation and no space-occupying effect of the cysts. Although neuroimaging showed no signs of increased intracranial pressure, neurosurgical exploration was performed and revealed a distinctly increased pressure in both arachnoid cysts. After replacement of the shunt a prompt reduction of papilledema and relief of symptoms was observed.

Neurodevelopmental outcome and pulmonary morbidity two years after early versus late surfactant treatment: does it really differ?

AIM: To investigate whether neurodevelopmental outcome or pulmonary morbidity at age two years might be different after early versus late surfactant treatment in intubated preterm infants with severe respiratory distress syndrome (RDS). METHODS: In 185 ex-preterm infants of 27-32 completed weeks of gestation, who were enrolled in a controlled trial of early versus late surfactant treatment (31 +/- 19 min vs. 202 +/- 80 min, respectively), a standardized follow up of medical history, pulmonary morbidity and neurodevelopmental outcome using the Griffiths scales were carried out. RESULTS: Neurobehavioural and motor development was comparable in both groups, as was medical history and actual morbidity. However, in the early treatment group a delay in the subscale 'personal social' of the Griffiths test and in one 'milestone' of motor development (rolling over from supine to prone) was noticed, and the rate of increased muscular tone was significantly higher. CONCLUSION: In terms of long-term morbidity or neurological development there is no obvious advantage of an immediate surfactant administration after intubation in preterm infants with RDS. This is in line with our results published earlier on morbidity at discharge, so improvement of gas exchange after intubation can first be awaited before surfactant is indicated.