UROLITHIASIS

The incidence of urinary tract stones in infancy has been increasing in Turkey. Risk factors and vitamin D receptor (VDR) gene polymorphisms were investigated in infants aged < 1 year who had stones. Forty infants with urinary tract stones and 80 infants without stones, aged < 1 year were enrolled in this study. Detailed surveys were taken of all infants, metabolic parameters and ApaI and FokI VDR gene polymorphisms were investigated. Infants with stones tended to be more commonly fed formula and multivitamins (vitamins A, C, D) (p < 0.05). Positive family history came into prominence in the stony group (p < 0.05). There were no significant differences in ApaI and FokI VDR gene polymorphisms between the groups with stones and the control groups. However, CA genotype of ApaI polymorphism was associated with family history and C allele of ApaI was related with family history and hypercalciuria (p < 0.05). Hypercalciuria emerged as an underlying metabolic abnormality in the etiology of stones, and was observed at a rate of 38%. Infants who are given formula and multivitamins for vitamin D supplementation are at increased risk for the formation of urinary tract stones. VDR gene polymorphisms cause the formation of urinary tract stones and affect calcium (Ca) metabolism

encephalopathy: pyruvate carboxylase deficiency

Pyruvate carboxylase (PC) deficiency is a rare autosomal recessive disease and provides clinics in three essential phenotypes. Type B PC deficiency is characterized by lactic acidosis and hyperammonemia. We report a Turkish patient who was diagnosed with type B PC deficiency. Despite the application of anaplerotic treatment with biotin, citrate and arginine-aspartate, continuous veno-venous hemodialysis (CVVHD) treatments were applied due to the failure to keep hyperammonemia and lactic acidosis under control. Ammonia values increasing to 860 mu mol/L were observed. A homozygous novel variant was detected in PC gene analyses containing a 12-base pair deletion on exon 8. Although the mutation found was not reported previously, it was accepted as a pathogenic variant due to its presence in a functional region of the protein. In type B PC deficiency, although a high level of ammonia is expected, it rarely exceeds 200 mu mol/L. As far as we know, the present case has the highest ammonia values in the literature. This paper has been shared to highlight to keep PC deficiency in mind regarding the differential diagnosis of hyperammonemia, particularly in the presence of lactic acidosis, and to serve as a model for the use of different modalities in the management process of PC deficiency.C1 [Kose, Melis Demir] Izmir Katip Celebi Univ, Sch Med, Dept Pediat, Div Inborn Errors Metab, Ismet Kaptan St, TR-35100 Izmir, Turkey.[Colak, Ruya; Ergon, Ezgi Yangin; Kulali, Ferit; Yildiz, Meral; Alkan, Senem; Calkavur, Sebnem] Behcet Uz Children Training & Res Hosp, Dept Neonatol, Izmir, Turkey.[Atilgan, Taner] Pamukkale Univ, Fac Med, Dept Neonatol, Denizli, Turkey.[Aslan, Fatma; Serdaroglu, Erkin] Behcet Uz Children Training & Res Hosp, Dept Nephrol, Izmir, Turkey.[Brown, Ruth; Brown, Garry] Oxford Univ Hosp NHS Fdn Trust, Oxford Med Genet Labs, Oxford, England

SN 2012aa: A transient between Type Ibc core-collapse and superluminous supernovae

Context: Research on supernovae (SNe) over the past decade has confirmed that there is a distinct class of events which are much more luminous (by $\sim2$ mag) than canonical core-collapse SNe (CCSNe). These events with visual peak magnitudes $\lesssim-21$ are called superluminous SNe (SLSNe). Aims: There are a few intermediate events which have luminosities between these two classes. Here we study one such object, SN 2012aa. Methods: The optical photometric and spectroscopic follow-up observations of the event were conducted over a time span of about 120 days. Results: With V_abs at peak ~-20 mag, the SN is an intermediate-luminosity transient between regular SNe Ibc and SLSNe. It also exhibits an unusual secondary bump after the maximum in its light curve. We interpret this as a manifestation of SN-shock interaction with the CSM. If we would assume a $^{56}$Ni-powered ejecta, the bolometric light curve requires roughly 1.3 M_sun of $^{56}$Ni and an ejected mass of ~14 M_sun. This would also imply a high kinetic energy of the explosion, ~5.4$\times10^{51}$ ergs. On the other hand, the unusually broad light curve along with the secondary peak indicate the possibility of interaction with CSM. The third alternative is the presence of a central engine releasing spin energy that eventually powers the light curve over a long time. The host of the SN is a star-forming Sa/Sb/Sbc galaxy. Conclusions: Although the spectral properties and velocity evolution of SN 2012aa are comparable to those of normal SNe Ibc, its broad light curve along with a large peak luminosity distinguish it from canonical CCSNe, suggesting the event to be an intermediate-luminosity transient between CCSNe and SLSNe at least in terms of peak luminosity. We argue that SN 2012aa belongs to a subclass where CSM interaction plays a significant role in powering the SN, at least during the initial stages of evolution.Comment: 21 pages, 15 figures, accepted for publication in Astronomy & Astrophysic