A NEW OBSERVATION OF 13q DELETION SYNDROME: SEVERE UNDESCRIBED FEATURES.

A new observation of 13q deletion syndrome: severe undescribed features: 13q deletion syndrome is characterized by a wide phenotypic spectrum resulting from a partial deletion-of the long arm of chromosome 13. It consists predominantly of mental and motor retardation, craniofacial dysmorphia, growth retardation, and several congenital malformations. We present a new case with 13q deletion syndrome phenotypically characterized by severe major malformations, some of them still undescribed, consisting of left diaphragmatic hernia, right pulmonary sequestration, hypoplastic left heart syndrome, pancreatic agenesis, polysplenia, and catastrophic central nervous system malformations: semilobar holoprosencephaly, occipital myelomeningocele, partial agenesis of the corpus callosum and agenesis of olfactory bulbs. Fluorescence in situ hybridization technique using the probe LSI D13S319 (13q1l4) SO/ LSI 13q34 SG determined partial monosomy of chromosome 13 in 39/100 cells (mosaicism).

Brain MRI without anesthesia in children less than 3 months old.

INTRODUCTION: The use of general anesthesia in infants involves both short-term and long-term risks. The aim of this study is to evaluate the efficacy of brain MRI without anesthesia in infants younger than 3-month-old immobilized with a pillow. PATIENTS AND METHODS: This prospective case-control study was done in 2019. Cases were stable patients less than 3 months old who did not require ventilatory support for whom brain MRI was indicated. Patients were fed so they would fall asleep and placed in the scanner with an immobilizing pillow. Controls were clinically unstable patients matched for age and sex referred for brain MRI under general anesthesia. Three pediatric radiologists evaluated the success of the MRI study (whether it answered the clinical question), recorded whether it was necessary to repeat the study, and rated the presence of motion artifacts on a scale ranging from 1 to 4. RESULTS: A total of 47 cases were included (28 boys and 19 girls; mean age, 31 days). Of these, 42 (89%) MRI studies were considered successful. The proportion of successful MRI studies was lower in outpatients than in inpatients (p = 0.02). The quality of MRI in cases was considered optimal in 60% and suboptimal (motion artifacts in one or two sequences) in 30%. No safety issues related with the technique were detected. The mean duration of the studies was 16.6 min (range, 6-30 min). All of the MRI studies in controls were considered successful; quality was considered optimal in 89% and suboptimal in 11%. In the first year in which we used this technique, we avoided the use of general anesthesia in 47 MRI studies in 42 newborns. CONCLUSION: Brain MRI using the feed and sleep technique in infants younger than 3-month-old immobilized with a pillow can be done safely and efficaciously without general anesthesia.

Brain MRI without anesthesia in children less than 3 months old. / Resonancia magnética cerebral sin anestesia en niños menores de 3 meses.

INTRODUCTION: The use of general anesthesia in infants involves both short-term and long-term risks. The aim of this study is to evaluate the efficacy of brain MRI without anesthesia in infants younger than 3-month-old immobilized with a pillow. PATIENTS AND METHODS: This prospective case-control study was done in 2019. Cases were stable patients less than 3 months old who did not require ventilatory support for whom brain MRI was indicated. Patients were fed so they would fall asleep and placed in the scanner with an immobilizing pillow. Controls were clinically unstable patients matched for age and sex referred for brain MRI under general anesthesia. Three pediatric radiologists evaluated the success of the MRI study (whether it answered the clinical question), recorded whether it was necessary to repeat the study, and rated the presence of motion artifacts on a scale ranging from 1 to 4. RESULTS: A total of 47 cases were included (28 boys and 19 girls; mean age, 31 days). Of these, 42 (89%) MRI studies were considered successful. The proportion of successful MRI studies was lower in outpatients than in inpatients (p=0.02). The quality of MRI in cases was considered optimal in 60% and suboptimal (motion artifacts in one or two sequences) in 30%. No safety issues related with the technique were detected. The mean duration of the studies was 16.6minutes (range, 6-30minutes). All of the MRI studies in controls were considered successful; quality was considered optimal in 89% and suboptimal in 11%. In the first year in which we used this technique, we avoided the use of general anesthesia in 47 MRI studies in 42 newborns. CONCLUSION: Brain MRI using the feed and sleep technique in infants younger than 3-month-old immobilized with a pillow can be done safely and efficaciously without general anesthesia.

[Value of autopsy in a neonatal intensive care unit]. / Valor de la autopsia en una unidad de cuidados intensivos neonatológicos.

OBJECTIVES: 1) To identify the profile of the cases requested for autopsy; 2) to analyze the clinocopathological discordance; 3) to investigate predictive factors for unsuspected clinically relevant diagnoses. PATIENTS AND METHOD: All autopsies performed between January 1999 and December 2005 in a tertiary neonatal intensive care unit, were retrospectively reviewed. Clinicopathological concordance was assessed independently by two neonatologists and two pathologists, according to a modification of the Goldman classification. A comparison was made between newborns who had an autopsy performed and those who did not and predictive factors for unsuspected findings were investigated. RESULTS: During the study period, there were 309 deaths, and autopsies were performed in 128 (41.4 %) of these cases. Autopsies were more common in newborns who had gestational age > 36 weeks (p < 0.001), birthweight > 1500 g (p < 0.001) and congenital defects (p < 0.007). However, the probability that the autopsy was granted decreased with increasing death age (p < 0.016). Unsuspected diagnoses were observed in 49.2 % of the autopsies, being a major finding in 21.1 % of the cases. A clinicopathological discordance involving the prognosis was found in four cases (3.1 %). Relevant unsuspected findings could not be predicted from the ante-mortem clinical diagnosis, gestational age, birthweight, sex, and death age. CONCLUSION: The autopsy remains the "gold standard" method to reveal major and unsuspected diagnoses and there is no substitute for it. Postmortem examination should be requested systematically in every neonatal death. However, several factors such as gestational age, birthweight, presence of congenital defects and death age, influence the likelihood of autopsy being granted.

[Short-term complications of late preterm infants]. / Complicaciones a corto plazo de los recién nacidos pretérmino tardíos.

INTRODUCTION: Late preterm infants, born at 34-36(+6) weeks gestation, are physiologically more immature than term infants. As a consequence, they have an increased risk of morbidity and mortality. Since health outcomes in prematurity may change depending on local factors we have proposed determine the short-term medical problems of these infants in our hospital. PATIENTS AND METHODS: A retrospective observational study was carried out on all newborn ≥ 34 weeks gestation admitted to Virgen del Rocio hospital from May 2005 to December 2008. We divided this cohort into late preterm (34-36(+6) weeks, n=769) and term (37-41(+6) weeks, n=1460) groups. We compared mortality and morbidity data between the 2 groups. RESULTS: Late preterm group was associated with assisted reproduction, twin pregnancy, caesarean delivery and preeclampsia during pregnancy. The risk of hospitalization was six times greater in these infants and neonatal intensive care admissions were twice as common. The hospital stay was double in this group. Neonatal respiratory morbidity and jaundice were greater in the preterm group. The use of surfactant, oxygen and respiratory support (CPAP and CMV) was also higher. There were no significant differences in hypoglycaemia and neonatal mortality between both groups. CONCLUSIONS: Late preterm infants represent a well-defined risk group for developing complications and should be available the necessary resources should be made available for their special care.

[Desquamative interstitial pneumonia in an infant]. / Neumonía intersticial descamativa en lactante.

It is described a desquamative interstitial pneumonia diagnosed by open biopsy of the lung, in a nine-month-old infant. The disease began at about two-months-old, with underdevelopment and evolution to progressive respiratory insufficiency that finished with the exitus at nine-months-old, before the initiation of the treatment with steroid. It is commented the bad prognostic in young infants diagnosed during the first year of life, questioning the utility of separate the desquamative interstitial pneumonia of the usual interstitial pneumonia in infants less than one-year-old.