Preeclampsia was a risk factor for pulmonary interstitial emphysema in preterm infants born ≤32 weeks of gestational age.

AIM: This study determined the prenatal and postnatal risk factors for pulmonary interstitial emphysema (PIE) in preterm infants born at up to 32 weeks of gestational age (GA) and their contribution to severe complications. METHODS: We studied 179 preterm infants, who had undergone chest X-rays during the first five days of life at Justus Liebig University Giessen, Germany, between 2016 and 2017. Of these, 33 were retrospectively classified as PIE and 146 as non-PIE. The PIE cases were also matched with 33 non-PIE cases by GA and gender. Risk factors were identified by univariate analyses and multivariable logistic regression. RESULTS: Previously known risk factors for pulmonary interstitial emphysema were confirmed, including GA and birthweight and the associations with adverse outcomes like intraventricular haemorrhage and mortality. We identified preeclampsia and haemolysis, elevated liver enzymes and low platelet count (HELLP) syndrome as additional risk factors for PIE (P = .027), and lung impairment was associated with respiratory distress syndrome (P = .001), higher maximum inspired oxygen (P = .014) and needing surfactant (P = .006). CONCLUSION: Preeclampsia and HELLP syndrome were identified as possible additional risk factors for PIE in preterm infants. These conditions should be included in future studies, to identify preterm infants at risk of PIE straight after birth.

Lung volume reduction surgery in preterm infants with bronchopulmonary dysplasia. A case report.

KEY CLINICAL MESSAGE: A preterm infant at the age of 9 months with severe bronchopulmonary dysplasia (BPD) and large lobar emphysema, compromising ventilation into adjacent lobes with respiratory failure under maximal conservative treatment and pulmonary arterial hypertension recovered initially well after bilateral lung volume reduction surgery, but progressed 2 years later into respiratory failure. The initial imaging with Magnetic-Resonance-Imaging (MRI)-Angiography and decision-making was difficult and interdisciplinary treatment was essential.

Physiological closure of the physeal plate of the distal radius: An MRI analysis.

To have knowledge of the physiological closure of a particular physeal plate is necessary to understand fractures close to the end of growth (transitional fractures). Most frequent fractures involve the distal radius in adolescents. However, there are no systematic investigations on the topic of growth plate closure concerning the distal radius plate, so far. Twenty-two healthy female volunteers underwent MRI investigations of their left wrist. Absolute width, percentage and localization of the physeal part, closed at the time of investigation were recorded. Sequential MRI scans were performed. In this series T1-weighted sequences were most useful to distinguish open and closed parts of the physis. Total area was 291-469 mm(2) (average, 399 mm(2) ). It did positively correlate with body height (P < 0.01), but not with weight (P = 0.241) or BMI (P = 0.394). Physeal closure took place at 15-18 years. There was no significant correlation between menarche and closure (P = 0.091). Bony bridging of the growth plate begins centroradial and ends with a small limbus dorsoradial. Sequential scans showed that there are only a few months from beginning to end of physeal closure. Physiological closure of the distal radius growth plate takes place in late adolescence, varying individually. There seems to be no influence of the menarche in female individuals. The process happens within a very short time of less than a year. This may be one rationale for the fact, that transitional fractures of the distal radius are rare.

Dysplasia of C-1 and craniocervical instability in patients with Shprintzen-Goldberg syndrome. Case report and review of the literature.

Shprintzen-Goldberg syndrome is a rare connective tissue disorder characterized by marfanoid habitus and additional dysmorphic stigmata. Craniocervical anomalies occur in fewer than 30% of cases. Serious vertebral instability can also occur, albeit rarely. The authors report on the first patient treated with surgical fusion at the craniocervical junction because of a C-1 dysplasia and severe instability. The skeletal and cardiovascular anomalies that can pose additional problems for surgical treatment and perioperative care are discussed in detail.

Evidence for involvement of the vitamin D receptor gene in idiopathic short stature via a genome-wide linkage study and subsequent association studies.

Stature is a highly heritable trait under both polygenic and major gene control. We aimed to identify genetic regions linked to idiopathic short stature (ISS) in childhood, through a whole genome scan in 92 families each with two affected children with ISS, including constitutional delay of growth and puberty and familial short stature. Linkage analysis was performed for ISS, height and bone age retardation. Chromosome 12q11 showed significant evidence of linkage to ISS and height (maximum non-parametric multipoint LOD scores 3.18 and 2.31 at 55-58 cM, between D12S1301 and D12S1048), especially in sister-sister pairs (LOD score of 1.9 for ISS in 22 pairs). These traits were also linked to chromosomes 1q12 and 2q36. The region on chromosome 12q11 had previously shown significant linkage to adult stature in several genome scans and harbors the vitamin D receptor gene, which has been associated with variation in height. A single nucleotide polymorphism (SNP) (rs10735810, FokI), which leads to a functionally relevant alteration at the protein level, showed preferential transmission of the transcriptionally more active G-allele to affected children (P=0.04) and seems to be responsible for the observed linkage (P=0.05, GIST test). Bone age retardation showed moderate linkage to chromosomes 19p11-q11 and 7p14 (LOD scores 1.69 at 57 cM and 1.42 at 50 cM), but there was no clear overlap with linkage regions for stature. In conclusion, we identified significant linkage, which might be due to a functional SNP in the vitamin D receptor (VDR) gene and could be responsible for up to 34% of ISS cases in the population.

Children with idiopathic short stature are poor eaters and have decreased body mass index.

OBJECTIVE: In children with idiopathic short stature (ISS), studies investigating body mass index (BMI) or parameters of satiety regulation are scarce, and studies analyzing eating behavior are lacking. METHODS: We recruited 214 children (123 index cases and 91 siblings) with ISS from 123 families. Affected children had to have a body height <5th percentile, or, in the case of siblings, the body height of 1 child had to be <5th percentile and the other <15th percentile. Medical histories were recorded by using structured and standardized interviews. Eating behavior was assessed by using the Child Eating Behavior Questionnaire. Percent energy intake as fat was assessed by using the Leeds Food Frequency Questionnaire. Endocrine markers of body weight regulation (leptin, ghrelin) were determined in serum. RESULTS: Compared with population norms, BMI was significantly lower (mean: -0.33 standard deviation score). Furthermore, there was decreased food responsiveness (mean Child Eating Behavior Questionnaire score: 1.9; population mean: 2.4), reduced enjoyment of food (3.2 vs 3.9), emotional undereating (2.6 vs 3.0), lower desire to drink (2.0 vs 2.8), and increased fussiness over food (3.2 vs 2.9). When the sample was subdivided into the 2 groups of "good" and "poor" eaters according to the mothers' assessment of the current eating behavior, reduction in BMI as well as the behavioral characteristics already delineated in the total sample were found to be even more consistent in the subgroup of poor eaters. In the total sample of our children, as well as in both subgroups, serum leptin (adjusted for gender, BMI, and Tanner stage) was found to be moderately raised but did not differ between poor and good eaters. Total serum ghrelin was not different between poor and good eaters. CONCLUSIONS: Our clinical, behavioral, and endocrinologic findings in patients with ISS point to an altered eating behavior that possibly contributes to their short stature.