Petja Fister

Thyroid volume changes during pregnancy and after delivery in an iodine-sufficient Republic of Slovenia

OBJECTIVE Literature data concerning thyroid enlargement during pregnancy are not conclusive. Our aim was to systematically follow the thyroid volume changes during pregnancy and after delivery in an iodine-sufficient area. STUDY DESIGN Prospective study of healthy pregnant women living in an iodine-sufficient area. We followed 118 pregnant women with the mean age 30.9+/-4.1 years in the first trimester (mean 11.2+/-2.5 weeks of pregnancy), in the third trimester (mean 31.6+/-1.7 weeks of pregnancy), and 4 months after delivery (mean 15.9+/-3.9 weeks). Additionally, 71 women were also evaluated 14 months after delivery (mean 13.3+/-1.1 months). All women were negative for thyroid autoantibodies. We measured urinary iodine concentration (UIC), thyroid volume, serum TSH, and body mass index (BMI). After delivery, in a subgroup of women we also estimated the colour flow Doppler sonography (CFDS) patterns 0, I, II and III, where thyroid vascularity increased from pattern 0 to III, and the peak systolic velocity (PSV) using a 7.5 mHz linear transducer. RESULTS Median UIC in the third trimester (176 microg/g creatinine) was significantly higher than 4 and 14 months after delivery (P=0.030, P<0.001, respectively). Thyroid volume in the third trimester (11.3+/-3.1 mL) was significantly greater (P<0.001) than in the first trimester (8.7+/-2.5 mL), 4 months after delivery (8.6+/-2.5) and 14 months after delivery (7.8+/-2.4 mL). TSH concentration was significantly higher in the third trimester than in the first trimester and 4 months after delivery (P=0.007, P=0.006, respectively). As expected, BMI was the highest in the third trimester. CFDS pattern I was more frequent 4 months after delivery than 14 months after delivery (P<0.001). Similarly, PSV was significantly higher 4 months after delivery than 14 months after delivery (P<0.001). Linear regression analysis revealed TSH and BMI as significant independent predictors for thyroid volume. CONCLUSION In an iodine-sufficient area, thyroid volume increases during pregnancy and decreases after delivery, and the changes in volume are associated with changes in TSH and BMI. They may be viewed as indicators for metabolic and haemodynamic changes during pregnancy.

Thyroid function in the third trimester of pregnancy and after delivery in an area of adequate iodine intake

To establish whether the higher thyroid stimulating hormone (TSH) levels and lower levels of the 2 free thyroid hormones noted toward the end of pregnancy are in relation with iodine supply.

Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: A European case

Benign familial neonatal convulsions (BFNC) is a rare, clinically and genetically heterogenous epileptic disorder. Two voltage gated potassium genes, KCNQ2 and KCNQ3, have been identified as genes responsible for BFNC1 and BFNC2 respectively. While as many as 73 mutations of KCNQ2 have been described up to date, only 4 mutations in KCNQ3, 3 of them appearing in exon 5, have been identified. Mutation in exon 6 was found for the first time in a Chinese family, and here we report the same missense mutation of KCNQ3 within exon 6 in a Caucasian family, whose history and clinical picture were in accordance with BFNC.

Thyroid volume and intrathyroidal blood flow increase during pregnancy

© 2006 Blackwell Publishing Ltd, Clinical Endocrinology , 65 , 826–831 with macroprolactinoma had a BMI of ≥ 30 kg/m 2 . Patients with macroprolactinoma hold eight positions of the first 14 BMI ranks (all ≥ 40 kg/m 2 ), including the top three (BMI ≥ 50 kg/m 2 ) although they represented only 129 of the total 430 pituitary adenoma patients. Mean BMI in patients presenting with macroprolactinoma was as high as BMI in patients presenting with Cushing’s disease (who often lose weight following successful surgery) and significantly higher than that in patients with NFA, also when adjusted for gender and age. 8 Within the patients with macroprolactinoma, BMI was not correlated with PRL levels at first presentation. When compared to the patients with NFA (tumours of comparable sizes), the higher BMI in patients with macroprolactinoma cannot be attributed to the degree of suprasellar extension or the pattern of pituitary failure. We have been looking for weight loss in patients with macroprolactinoma whose tumour was controlled by surgery (and radiotherapy), but obviously those well controlled with regard to PRL and losing weight had been treated with bromocriptine or cabergoline, i.e. dopamine agonists. We truly wonder (and doubt) whether Serri et al . 1 or anyone else have observed a series of patients whose body weight, insulin resistance and CRP decreased specifically in response to selective surgical removal of PRL-secreting tumour cells; we have rather seen the opposite, patients with pronounced weight gain years following pituitary surgery for prolactinoma (three of them, to a BMI of ≥ 40 kg/m 2 ). We agree that nowadays treatment with dopamine agonists is the therapy of choice for such patients, and we certainly also concur with the view that PRL levels are easier to measure and monitor than central dopaminergic tone. As opposed to Serri et al. , 1 we propose that hyperprolactinaemia (which may reflect reduced central dopaminergic input and thus be a marker, but not a cause) per se does not contribute to an increased BMI and features of the insulin resistance/metabolic syndrome, and that dopamine 2 receptor stimulation rather than decreasing PRL levels may be beneficial with regard to the control of parameters belonging to the risk cluster for cardiovascular disease.

A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD)

Background Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare inherited mitochondrial fatty acid oxidation disorder associated with variations in the ACADS (Acyl-CoA dehydrogenase, C-2 to C-3 short chain) gene. SCADD has highly variable biochemical, genetic and clinical characteristics. Phenotypes vary from fatal metabolic decompensation to asymptomatic individuals. Subject and methods A Romani boy presented at 3 days after birth with hypoglycaemia, hypotonia and respiratory pauses with brief generalized seizures. Afterwards the failure to thrive and developmental delay were present. Organic acids analysis with gas chromatography-mass spectrometry (GS/MS) in urine and acylcarnitines analysis with liquid chromatography-tandem mass spectrometry (LC-MS/MS) in dried blood spot were measured. Deoxyribonucleic acid (DNA) was isolated from blood and polymerase chain reactions (PCRs) were performed for all exons. Sequence analysis of all exons and flanking intron sequences of ACADS gene was performed. Results Organic acids analysis revealed increased concentration of ethylmalonic acid. Acylcarnitines analysis showed increase of butyrylcarnitine, C4-carnitine. C4-carnitine was 3.5 times above the reference range (<0.68 µmol/L). Confirmation analysis for organic acids and acylcarnitine profile was performed on the second independent sample and showed the same pattern of increased metabolites. Sequence analysis revealed 3-bp deletion at position 310-312 in homozygous state (c.310_312delGAG). Mutation was previously described as pathogenic in heterozygous state, while it is in homozygous state in our patient. Conclusions In our case clinical features of a patient, biochemical parameters and genetic data were consistent and showed definitely SCAD deficiency.

The prevalence and pattern of pharmaceutical and excipient exposure in a neonatal unit in Slovenia

Abstract Objective: Because of the restraints on conducting studies on pharmaceutical use in sick newborns, many drugs are used off-label in this population. Moreover, industrially manufactured pharmaceuticals may contain different excipients, which may be either untested or not licensed for use in neonates. The aim of our study was to determine the prevalence and pattern of pharmaceutical and excipient exposure in newborns hospitalized at the Department of Neonatology, Ljubljana, Slovenia. Methods: A longitudinal prospective cross-sectional study was performed during a one-month period and included all hospitalized neonates. Route of administration, site of action, type of manufacture, licensing status, type and concentrations of excipients for all pharmaceuticals given to the neonates were determined. Results: Twenty seven different pharmaceutical preparations were prescribed to a total of 48 hospitalized newborns. In most cases, newborns were prescribed various pharmaceuticals that were not approved for use in this population. Newborns were exposed to 60 different excipients in industrially manufactured pharmaceutical preparations. More than half of the received pharmaceuticals contained potentially harmful and harmful excipients. Conclusions: Two-thirds of pharmaceutical preparations for neonates were used off-label. Newborns receive more auxiliary substances, which may be unsuitable for this age group and may even be toxic to them, via industrially manufactured pharmaceuticals.

Neonatal hypoglycaemia: History, clinical picture, investigations, management and outcome

The aim of this article is to present the problem of neonatal hypoglycaemia through clinical cases. Hypoglycaemia is the most common neonatal metabolic disturbance. It may be picked up incidentally in a neonate without clinical signs, or anticipated in a neonate at risk of hypoglycaemia. The lowest accepted blood glucose (BG) concentration is difficult to define, the one most often used in clinical practice it is a BG concentration of 2.2 mmol/L in the first 24 hours of life and of 2.6 mmol/L after the first day of life. After birth, transient mild decreases in BG levels are physiological. If hypoglycaemia persists, samples of blood and urine should be taken to diagnose the etiological factor causing it if the condition is not otherwise evident. Conclusion: Since persistent or recurrent hypoglycaemia may cause permanent long-term neurological impairment, it is important to diagnose and treat it appropriately and in good time in order to maintain normoglycaemia and assure normovolemia in a neonate. Moreover, the etiological factors causing hypoglycaemia should be sought so the therapy is also cause-targeted.

Decreased tissue oxygenation in newborns with congenital heart defects: a case-control study

Aim To compare regional tissue oxygenation (rSO2) in the brain, intestine, and kidney between newborns with and without congenital heart defects (CHD). Methods This observational case-control study was conducted at the Neonatal Deparetment of Childrens Hospital Ljubljana between December 2012 and April 2014. It included 35 newborns with CHD and 30 healthy age- and sex-matched controls. CHD were assessed echocardiographically and divided into acyanotic and cyanotic group. RSO2 in the brain, intestine, and kidney was measured using near-infrared spectroscopy (NIRS). Simultaneously, heart rate (HR), breathing frequency (BF), mean arterial blood pressure (MAP), and arterial oxygen saturation (Sao2) were recorded. Results Newborns with CHD had significantly lower rSO2 in the left brain hemisphere (67 ± 11% vs 76 ± 8%, P = 0.004), right brain hemisphere (68 ± 11% vs 77 ± 8%, P < 0.001), and the kidney (68 ± 13% vs 77 ± 10%, P = 0.015). RSO2 in the intestine did not significantly differ between the groups. HR, MAP, and Sao2 also did not differ between the groups, whereas BF was significantly higher in the CHD group (57 ± 12 vs 39 ± 10 breaths/min, P < 0.001). Between cyanotic and acyanotic group, we found no significant differences in rSO2 of any tissue. Conclusions Monitoring tissue oxygenation by NIRS could enable a timely detection of hemodynamically important CHD.