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1.
BMJ Case Rep ; 20152015 Mar 27.
Article in English | MEDLINE | ID: mdl-25820111

ABSTRACT

A preterm baby girl, born at 34 weeks gestation, with features of Beckwith-Wiedemann syndrome was noted to have a relatively large umbilical stump. No fetal abnormalities had been detected on anatomy scan at 28 weeks and only mild polyhydramnios and macrosomia were noted on a 32-week ultrasound scan. Although there was no obvious omphalocoele, clinical assessment of the umbilical cord revealed an abdominal wall defect through which bowel would protrude into the umbilicus when the infant was crying. In keeping with an abdominal wall defect α-fetoprotein was found to be elevated. Surgical consultation advised conservative management. Subsequently, detachment of the umbilical cord occurred 1 week postdischarge and a large umbilical hernia persists. Genetic analysis confirmed a diagnosis of Beckwith-Wiedemann syndrome.


Subject(s)
Beckwith-Wiedemann Syndrome/diagnosis , Hernia, Umbilical/diagnosis , Beckwith-Wiedemann Syndrome/blood , Crying , Female , Hernia, Umbilical/blood , Humans , Infant, Newborn , Infant, Premature , alpha-Fetoproteins/metabolism
2.
Sci Total Environ ; 438: 260-70, 2012 Nov 01.
Article in English | MEDLINE | ID: mdl-23000715

ABSTRACT

Coastal fresh water sources, which discharge to the sea are expected to be directly influenced by climate change (e.g. increased frequency of extreme weather events). Sea-level rise and changes in rainfall patterns, changes in demand for drinking water and contamination caused by population and land use change, will also have an impact. Coastal waters with submarine groundwater discharge are of particular interest as this fresh water source is very poorly quantified. Two adjacent bays which host shellfish aquaculture sites along the coast of Co. Galway in the west of Ireland have been studied to establish the influence of fresh water inputs on nutrients and dissolved organic carbon (DOC) in each bay. Neither bay has riverine input and both are underlain by the karst limestone of the Burren and are susceptible to submarine groundwater discharge. Water and suspended matter samples were collected half hourly over 13 h tidal cycles over several seasons. Water samples were analysed for nutrients and DOC, while suspended matter was analysed for organic/inorganic content. Temperature and salinity measurements were recorded during each tidal station by SBE 37 MicroCAT conductivity/temperature sensors. Long-term mooring data were used to track freshwater input for Kinvara and Aughinish Bays and compare it with rainfall data. Results show that Kinvara Bay is much more heavily influenced by fresh water input than Aughinish Bay, and this is a strong source of fixed nitrogen to Kinvara Bay. Only during flood events is there a significant input of inorganic nitrogen from fresh water to Aughinish Bay, such as in late November 2009. Fresh water input does not appear to be a significant source of dissolved inorganic phosphate (DIP) to either bay, but is a source of DOC to both bays. C:N ratios of DOC/DON show a clear distinction between marine and terrestrially derived dissolved organic material.


Subject(s)
Carbon/analysis , Climate , Environmental Monitoring/statistics & numerical data , Fresh Water/analysis , Groundwater/analysis , Nitrates/analysis , Phosphates/analysis , Aquaculture/standards , Electric Conductivity , Environmental Monitoring/methods , Ireland , Salinity , Temperature
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