Objective:To evaluate the clinical signs and symptoms that would help clinicians to consider pseudohypoparathyroidism (PHP) type 1A as a diagnosis in a child.Methods:A retrospective review of the medical records of children diagnosed by erythrocyte Gsα activity and/or GNAS1 gene study and followed-up for PHP type 1A. Clinical and biochemical parameters along with epidemiological data were extracted and analyzed. Weight gain during infancy and early childhood was calculated as change in weight standard deviation score (SDS), using the French growth reference values. An upward gain in weight ≥0.67 SDS during these periods was considered indicative of overweight and/or obesity.Results:Ten cases of PHP type 1A were identified (mean age 41.1 months, range from 4 to 156 months). In children aged ≤2 years, the commonest clinical features were round lunar face, obesity (70%), and subcutaneous ossifications (60%). In older children, brachydactyly was present in 60% of cases. Seizures occurred in older children (3 cases). Short stature was common at all ages. Subclinical hypothyroidism was present in 70%, increased parathormone (PTH) in 83%, and hyperphosphatemia in 50%. Only one case presented with hypocalcemia. Erythrocyte Gsα activity tested in seven children was reduced; GNAS1 gene testing was performed in 9 children. Maternal transmission was the most common (six patients). In three other cases, the mutations were de novo, c.585delGACT in exon 8 (case 2) and c.344C>TP115L in exon 5 (cases 6&7).Conclusion:Based on our results, PHP type 1A should be considered in toddlers presenting with round face, rapid weight gain, subcutaneous ossifications, and subclinical hypothyroidism. In older children, moderate mental retardation, brachydactyly, afebrile seizures, short stature, and thyroid-stimulating hormone resistance are the most suggestive features.
Objective To determine regional prevalence of breastfeeding very premature infants and identify factors influencing it's initiation at birth and continuation at discharge. Study Design It was a prospective observational study in preterm < 33 weeks of gestational age (GA) from January to December 2010 in Poitou-Charentes. Data were collected from infant report and using a questionnaire sent at home.
Abstracts OR:1.91; CI:1.43-2.55; p<0.001). Level one and level two units were less likely to transfer (eg top-tertile level one, OR:0.49; CI:0.33-0.73; p<0.001). These effects became statistically insignificant once 'high risk' babies (with congenital abnormalities, requiring surgery, and born < 29 weeks gestation) were removed. Conclusions In this UK study we show reduced mortality in level one relative to level three units, and that this difference is explained by a less severe case-mix in lower level units. The majority of care for high risk babies in England is appropriately delivered by highlevel units. In the US the case-mix of high-and low-level units is similar. We suggest a network based approach achieves the benefits of centralisation without the disadvantages. Results During 2010, the rate of late preterm birth 299/8718 births: 3.42±0.94% without significant difference between the 5 centres. Rates were 0.62%, 1.35% and 1.46% respectively at 33, 34 and 35 wks. There was 19% of twin pregnancy. Vaginal birth rate (57.6%) was not significantly different between groups. Increased gestational age was associated with decreased antenatal steroid use (80.8%, 47.4% and 20.6% respectively; p=0.001). Neonatal mortality was 2/299 (0.68%). Postnatal transport was low (4.3% at 33, 4.1 at 34 and 5.6 at 35). Respiratory distress decreased (27.8% at 33 vs 8.5% at 34 and 7.9% at 35; p=0.001) without significant difference in the use of surfactant. Feeding problems decreased (20.4% at 33 vs 5.5% at 35; p=0.01). There was no significant difference in gestational age at hospital discharge between groups (37.07±1.3 at 33, 36.9±1.2 at 34 and 37.3±1.1). Conclusion Compared to recent studies the rate of late preterm delivery in our region was similar. Low rate of postnatal transport showed good organization of the regional perinatal network. Aim To study the frequency of use, indications for placement and complications associated with PICC line placement in a single tertiary NICU. Method A prospective review of all the PICC lines inserted over ten-month period. Data was obtained from clinical notes, radiology reports and laboratory results. Results A total of 71 lines were placed in 53 infants < 33 weeks. 43% (53/131) infants < 33 weeks admitted had PICC line placed. The mean gestational age was 27.7±2.3 weeks and mean birth weight was 1030±332g. The indications for insertion was administration of Parenteral nutrition (86%), Inotropes (11%), and antibiotics (3%). The mean age at insertion was 7±6 days and the average 820 821 Abstract 818 Graph 1 Box and Whisker Plots of LOS Conclusion Our data for length of stay LOS for following neonatal surgery compare favourably to historical data. Our data show a wide variation in lengths of stay; we believe that median LOS with ranges will enable us to give more detailed information to families at diagnosis. LATE PRETERM DELIVERIES AND NEONATAL OUTCOMES IN AN AUDIT OF THE USE OF PICC LINES IN PRETERM INFANTS (< 33WEEKS) IN A TERTIARY NEONATAL INTENSIVE CARE UNITThese data allow more detai...
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