The Coat-Hanger Angle Sign

An infant boy, the second child of healthy parents, was born at 35.5 weeks of gestation by cesarean delivery performed in emergency because of fetal bradycardia and polyhydramnios. At birth his weight was 2770 g (62nd percentile), length 48.3 cm (69th percentile), and head circumference 33.5 cm (64th percentile). Findings of a phys- ical examination showed a broad forehead, a depressed nasal bridge, anteverted nares, a long and protruding philtrum, a high arched palate, retrognathia, joint contractures, and an umbilical hernia. The Apgar score was 6/8 at 1/5 minutes. Because of progressive respiratory distress he required hos- pitalization and noninvasive support ventilation for the first 36 hours. At admission, a chest radiograph demonstrated a bell-shaped thorax with curved ribs and cupped anterior ends (Figure 1). These chest roentgenogram findings were further investigated by calculating the coat-hanger angle (CHA), which was 36 1 (Figure 2; available at www.jpeds. com). CHA refers to the average of the angles between the peak point of both sixth posterior ribs and the horizontal axis passing through their costovertebral articulations. If there is no peak point of the sixth posterior ribs, the center of the ribs is used instead. An upward angle is defined as +, and a downward angle as . The horizontal axis is defined as a line passing through 2 points of both sixth costovertebral junctions.1,2 If this value exceeds 34 (CHA sign), in patients with suggestive dysmorphic features, a paternal uniparental disomy 14 syndrome, recently named Kagami-Ogata syndrome (KOS), should be suspected.2,3 KOS results in a unique phenotype characterized by facial abnormalities, abdominal wall defects, placentomegaly, poly- hydramnios, and a small bell-shaped thorax with “coat- hanger” appearance of the ribs constituting its prominent pathognomonic feature.4,5 We performed a segregation study by microsatellite analysis polymorphisms using the leukocyte genomic DNA of the patient and parents, which confirmed our clinical suspicion. There are several congenital disorders wherein thoracic hy- poplasia is the sole radiological hallmark.6 The finding of a CHA sign is a well-characterized and simple feature that could suggest the diagnosis of KOS. This sign is described to be more severe than that seen in other genetic bone dis- eases and to persist from infancy through childhood/puberty. Because of a poor swallowing reflex, the patient required nasogastric feeding support until 3 weeks of age. He was discharged when he was 35 days of age

Gravitational-wave selection effects using neural-network classifiers

We present a novel machine-learning approach to estimate selection effects in gravitational-wave observations. Using techniques similar to those commonly employed in image classification and pattern recognition, we train a series of neural-network classifiers to predict the LIGO/Virgo detectability of gravitational-wave signals from compact-binary mergers. We include the effect of spin precession, higher-order modes, and multiple detectors and show that their omission, as it is common in large population studies, tends to overestimate the inferred merger rate in selected regions of the parameter space. Although here we train our classifiers using a simple signal-to-noise ratio threshold, our approach is ready to be used in conjunction with full pipeline injections, thus paving the way toward including actual distributions of astrophysical and noise triggers into gravitational-wave population analyses.Comment: 7 pages, 4 figures, 1 table. Published in PRD. Models and samples available at https://github.com/dgerosa/pdetclassifie

Facial masks in children: the position statement of the Italian pediatric society

Facial masks may be one of the most cost-effective strategies to prevent the diffusion of COVID 19 infection. Nevertheless, fake news are spreading, alerting parents on dangerous side effects in children, such as hypercapnia, hypoxia, gut dysbiosis and immune system weakness. Aim of the Italian Pediatric Society statement is to face misconception towards the use of face masks and to spread scientific trustable information

Intellectual disabilitiy in developmental age

Intellectual disability (ID) is a neurodevelopmental dis- order characterized by deficits in intellectual and adap- tive functioning that present before 18 years of age [1]. ID is heterogeneous in etiology and encompasses a broad spectrum of functioning, disability, needs and strengths. Originally formulated in strictly psychometric terms as performance greater than 2.5 SDs below the mean on intelligence testing, the conceptualisation of ID has been extended to include defects in adaptive beha- viours [2]. The term-global developmental delay-(GDD) is usually used to describe children younger than 5-years of age who fail to meet expected developmental milestones in multiple areas of intellectual functioning [1]. In both conditions the symptoms must be present in the early developmental period, but they may not become fully manifest until social demands exceed patients’ capacities. ID affects 1.5 to 2% of the population in Western countries and represents an important health burden [3]. During the past decade, advances in genetic research have enabled genomewide discovery of chromosomal copy-number and single-nucleotide changes in patients with ID and autism as well as in those with other neu- rodevelopmental disorders. These technological advances-which include array comparative genomic hybridization (CGH), single nucleotide polymorphism genotyping arrays and massively parallel sequencing- have transformed the approach to the identification of etiologic genes and genomic rearrangements in the research laboratory and are now being applied in the clinical diagnostic arena [4]. In this view, the American Academy of Pediatrics recently released a guidance for the clinician in rendering Pediatric Care [5]. The sug- gested clinical approach to the patient should be con- ducted closely with a geneticist and includes the child’s medical history, the family history, the physical and neu- rologic examinations (emphasizing the dysmorphology examination) and the examination for neurologic or behavioral signs that might suggest a specific recogniz- able syndrome or diagnosis. After this clinical evalua- tion, focused use of genetic laboratory tests, imaging and other consultations are critical in establishing the right diagnosis, its pattern of inheritance and the subse- quent follow-up. Finally, this guidance highlights a renewed emphasis on array CGH, that is now considered the first-line diagnostic test for children who present with GDD/ID of unknown cause, and on the identification of-treatable-causes of GDD/ID with the recommendation to consider screening for inborn errors of metabolism [5]. The future use of whole-genome or next generation sequencing offers pro- mises and challenges needing to be yet addressed before their regular implementation in the clinic

Esophageal atresia and Beckwith–Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report

Recent studies report a high incidence of monozygotic twinning in Beckwith–Wiedemann syndrome. A phenotypical discordance in monozygotic twins israre. Twinning and Beckwith–Wiedemann syndrome show higher incidence inchildren born after assisted reproductive techniques. We report on the first observation of esophageal atresia and Beckwith–Wiedemann syndrome in one of the naturally conceived discordant monozygotic twins

Management of multiple pregnancy with an affected twin

Newborns from multiple pregnancies demonstrate a higher perinatal morbidity and mortality compared to singletons. Prematurity is more frequent in twins and therefore birth weight is significantly lower compared to singletons [1]. Thus, twins are more exposed to prema- turity related diseases (respiratory, cardiovascular, infec- tious, etc.) and to long-term complications [2]. It is very difficult to estimate the increased risk of neonatal mor- bidity related to twinning independently to the increased risk of prematurity. Prematurity is the main reason for most neonatal diseases in twins, but other variables may play a role. Fetal growth restriction [3] and congenital malformationsare major issues in offspring of multiple pregnancies. Specific risks vary according tozigosity (monozygotic >dizygotic) and kind (genetic, vascular, multifactorial, etc.) and site (systems and organs involved) of malformation. Accurate risk assessment strategies and adequate obstetrical-neonatological man- agement of multiple pregnancies may reduce the increasing need for neonatal intensive care and for health resources in the long-term follow-up that has been observed over the last decades. Careful analysis of both twins for a pathological condi- tion is mandatory to address the most appropriate man- agement. Twin discordance for the presence of a severe pathological condition raises serious concern in terms of bioethical and psychological impact on the parents and medical staff[4]. Different management choices can be considered: termination of pregnancy, selective embryo reduction of the affected twin, anticipation of delivery or natural course of the pregnancy. Each choicehides difficult clinical and legal implications. Accurate clinical, laboratory and ultrasonographic evaluation together with pregnancy follow-up are essential for reaching the correct diagnosis and consider prognosis and therapeutic options [5]. The risk of intrauterine death and potential risks for the other twin and the mother must be taken into account. Some- times it is possible to wait until the natural end of preg- nancy and then provide suitable treatment to the affected twin. Other times, parents opt to terminate the pregnancy and loose both twins. A selective reduction (after accurate evaluation of placentation) of the affected twin only carries a high risk of complication for the healthy twin, especially in monochorionic pregnancies. In the late third trimester of pregnancy, the option of a preterm delivery can be con- sidered and may contribute to the increase of prematurity and prematurity related diseases in twins. The management of multiple pregnancies is a very com- plex task for medical staff and requires parental support with adequate counselling and psychological help [6]