ABSTRACT
Alcohol consumption during pregnancy may lead to severe foetal damage, such as foetal alcohol spectrum disorders. It is known that pregnant women under-report to questionnaires about alcohol consumption. It is therefore necessary to determine alcohol consumption during pregnancy objectively. We present 2 pregnant women with negative urine tests for ethyl glucuronide (EtG) and alcohol. However, analysis of two other biomarkers, phosphatidylethanol (PEth) in blood and fatty acid ethyl esters (FAEE) in meconium, revealed alcohol consumption during pregnancy by both women. Analysis of PEth can yield additional information alongside EtG testing. This is due to the much longer half-life of PEth. Meconium testing for FAEE provides relevant information about alcohol consumption during the second and third trimesters. Both PEth and meconium analysis can help identify women who have consumed alcohol during pregnancy. Appropriate counselling and follow-up can be given to these mothers and their children.
Subject(s)
Alcohol Drinking/adverse effects , Fatty Acids/analysis , Glucuronates/urine , Glycerophospholipids/urine , Meconium/chemistry , Pregnancy Complications/diagnosis , Adult , Biomarkers/analysis , Ethanol/urine , Female , Humans , PregnancyABSTRACT
Two families are presented with a child suffering from microcephaly with a simplified gyral pattern of the brain (SGP) and early onset insulin dependent diabetes mellitus (IDDM). The first patient was diagnosed postmortally with Wolcott-Rallison syndrome, after her younger brother developed IDDM, and a homozygous mutation in the eukaryotic translation initiation factor 2-alpha kinase 3 was found. The younger brother did not undergo magnetic resonance imaging (MRI). The patient from the second family has no EIF2AK3 mutation. SGP is considered to arise from decreased neuronal proliferation or increased apoptosis at an early stage of embryonal development, but insight into the pathways involved is minimal. EIF2AK3 is involved in translation initiation. It has been proposed that loss of function mutations reduce the ability of the cell to respond to endoplasmic reticulum stress, resulting in apoptosis of pancreatic Langerhans cells. Our findings suggest that in some cases, early onset IDDM and SGP can arise from common mechanisms leading to increased apoptosis.
Subject(s)
Cerebral Cortex/abnormalities , Diabetes Mellitus, Type 1/complications , Microcephaly/complications , Microcephaly/pathology , Age of Onset , Cerebral Cortex/pathology , Female , Humans , Infant , Infant, Newborn , Magnetic Resonance Imaging , Male , Osteochondrodysplasias/diagnostic imaging , Osteoporosis/diagnostic imaging , RadiographySubject(s)
Graves Disease/complications , Hyperthyroidism/congenital , Pregnancy Complications , Adult , Antithyroid Agents/therapeutic use , Autoimmune Diseases , Female , Graves Disease/immunology , Humans , Hyperthyroidism/diagnosis , Hyperthyroidism/drug therapy , Infant, Newborn , Pregnancy , Thyroid Function Tests , Thyroxine/therapeutic useABSTRACT
This study reports the physical and radiographic characteristics of 45 patients with Rubinstein-Taybi syndrome living in The Netherlands. All had broad halluces, but only 39 patients had broad thumbs. Microcephaly was present in 35% of patients. In addition to the well-known characteristics, persistent fetal pads, a shawl scrotum, and a high frequency of fractures were found in several patients. Morbidity was mainly determined by the mental handicap, constipation, and recurrent upper respiratory infections, probably due to abnormal anatomy in the craniofacial region. Easy collapsible laryngeal walls may cause problems in sleep and anaesthesia.