Highly Active Antiretroviral Therapy in an Extremely Low Birth Weight Newborn With in Utero Transmission of HIV.

The management of perinatal HIV infection in preterm infants is hampered by the lack of evidence informing optimal antiretroviral treatment for these vulnerable newborns. We present a case of an extremely preterm infant with HIV infection treated immediately with a 3-drug antiretroviral regimen and achieving stable suppression of HIV plasma viral load.

A patient with mosaic USP9X gene variant.

The finding of USP9X variants in females has been associated with female-restricted X-linked mental retardation (MRXS99F), a rare syndrome featured by developmental delay and distinct congenital anomalies. Here, we report a female fetus with MRXS99F due to a novel frameshift variant, c.6679_6685delAAATTATinsTCCTG (p.Lys2227SerfsTer2) in USP9X, which was present in a mosaic state in the amniocytes and in the peripheral blood after birth (14% and 30%, respectively). The X methylation status analysis displayed a partially skewed X-inactivation with 80% of inactive paternal X. The first signs of the MRXS99F were prenatally detected at 20 weeks, with an enlarged posterior cranial fossa, an upward rotation of the cerebellar vermis and partial corpus callosum agenesis, together with a cardiac septal defect and a single umbilical artery. After birth and during postnatal follow-up the anal anteriorization and the presence of a bilateral membranous choanal atresia were noted, whereas the MRI revealed the hypo/aplasia of the olfactory bulbs, a widening of the subarachnoid spaces and a delay in the myelinisation. During the 18-months follow-up a severe growth and global developmental delay, together with a bilateral moderate deafness with a threshold at 40 dB, dental enamel erosions and an initial scoliosis were observed. We report the prenatal and postnatal features of a classical MRXS99F phenotype and a mosaic USP9X frameshift variant with a partially skewed X inactivation and discuss genotype/phenotype correlations in view of the published studies so far.

Are there any strategies to improve neonatal outcomes associated with epidural analgesia in labor?

BACKGROUND AND AIM OF THE WORK: This study was aimed at evaluating the relationship between epidural analgesia and perinatal outcomes and at verifying the advisability of procedural changes in assistance to labor. SUBJECTS AND METHODS: From January to December 2012, we conducted a retrospective case-control study on 1,963 laboring pregnant women admitted to the Parma University Hospital. We considered two groups: Group 1 received epidural analgesia and Group 2 received no analgesia. Women with elective cesarean sections, multiple pregnancies or deliveries at <34 weeks were excluded. We recorded maternal data (age, type of delivery, obstetric procedures, premature rupture of membranes, screenings for Group-B Streptococcus) and neonatal data (birth weight, gestational age, 1- and 5-minute Apgar scores, diagnosis at discharge). RESULTS: Of the 1,963 laboring women, 287 requested analgesia and 1,676 did not. We found no significant differences between the two groups in the rates of cesarean section, clavicle fracture, and 1-minute Apgar score between 4 and 7. By contrast, we observed a higher rate of instrumental deliveries (p<0.01), fetal occiput posterior position (p<0.05), neonatal cephalohematoma (p=0.01) in Group 1 than in Group 2 . In Group 1 we also found a higher number of newborns with 1-minute Apgar score of 3 or less (p=0.016). In addition, a significantly higher number of women in Group 1 had fever during labor (p=0.003, odds ratio 5.01). CONCLUSIONS: Our results suggest that strategies should be activated to overcome or limit the side-effects of analgesia in labor through prospective and multidisciplinary studies. 

Apparent life threatening event and gastric antral ulcer in a full-term infant: any possible relationship?

We describe the case of an apparently healthy newborn infant who in 7th day of life showed an episode of haematemesis and in 13th day of life presented an episode of apparent life threatening event (ALTE). A fibroscopy of the upper digestive tract showed a great ulcer of the gastric antrum and esophagitis limited to the mucosa. Gastrinemia in the blood showed high values (121 pg/ml). The relationship between ALTE and gastric ulcer may be casual, however in literature a gastroenteric cause is present in about 50% of ALTE in which an etiologic cause is found. We speculate that in the present case the increase of gastrin secretion reduced gastric pH which facilitated the onset of gastric ulcer and esophagitis with ALTE due to pain or reflex.