Vitamin B12 (Cobalamin): Its Fate from Ingestion to Metabolism with Particular Emphasis on Diagnostic Approaches of Acquired Neonatal/Infantile Deficiency Detected by Newborn Screening

Acquired vitamin B12 (vB12) deficiency (vB12D) of newborns is relatively frequent as compared with the incidence of inherited diseases included in newborn screening (NBS) of different countries across the globe. Infants may present signs of vB12D before 6 months of age with anemia and/or neurologic symptoms when not diagnosed in asymptomatic state. The possibility of identifying vitamin deficient mothers after their pregnancy during the breastfeeding period could be an additional benefit of the newborn screening. Vitamin supplementation is widely available and easy to administer. However, in many laboratories, vB12D is not included in the national screening program. Optimized screening requires either second-tier testing or analysis of new urine and blood samples combined with multiple clinical and laboratory follow ups. Our scope was to review the physiologic fate of vB12 and the pathobiochemical consequences of vB12D in the human body. Particular emphasis was put on the latest approaches for diagnosis and treatment of vB12D in NBS

The neonatal sarcoplasmic/endoplasmic reticulum calcium ATPase (SERCA1b): a neglected pump in scope

The neonatal isoform of the sarcoplasmic/endoplasmic reticulum Ca2+ ATPase (SERCA1b) is formed by developmental splicing and expressed fully only in developing muscle. As a major Ca2+ pump in myotubes, SERCA1b must be detected in excitation contraction coupling or in store-operated calcium entry. The available pan SERCA1 antibodies also recognise SERCA1b but these are more frequently used to detect SERCA1a, the adult muscle-specific isoform characteristically expressed in fast fibres of skeletal muscle. In such applications, the pan SERCA1 antibodies are frequently claimed to be SERCA1a antibodies without proving it. Realistically, such an antibody cannot be made since it should recognise a single glycine at the C-terminal, the only part of SERCA1a that is different from SERCA1b. The false interpretation of the antibody specificity created inconsistence in the literature and led to false conclusions attributing features only to SERCA1a although those at least are also shared by SERCA1b. In contrast, a SERCA1b antibody has been made against the eight amino acid peptide tail that replaces the glycine of SERCA1a at the C-terminal. Therefore, the expression of SERCA1b can be specifically demonstrated, unlike that of SERCA1a, in various stages and conditions of skeletal muscle. This review argues against misbeliefs related to the distinction, expressions and functions of the two muscle-specific SERCA1 isoforms

Transfection Efficiency Along the Regenerating Soleus Muscle of the Rat

We investigated the efficiency of a single plasmid transfection along the longitudinal axis of the regenerating soleus of young rats. This also reflected transfection efficiency along the fibers because the soleus is a nearly fusiform muscle in young animals. The complete regeneration was induced by notexin and the transfection was made by intramuscular injection of enhanced green fluorescent protein- or Discosoma red-coding plasmids after 4 days. One week after transfection the number of transfected fibers was higher at the place of injection (i.e., in the muscle belly) and lower or absent at the ends of the muscle. The inspection of longitudinal sections and neuromuscular endplates indicated that one of the reasons of uneven transfection might be the shortness of transfected myotubes and the other reason might be the limit of diffusion of transgenic proteins from the expressing nuclei. As a result, the efficiency of transfection in the whole regenerating muscle was much lower than it could be estimated from the most successfully transfected part

Koraszülöttek retinopathiaszűrése és annak eredményei a Vas Megyei Markusovszky Kórházban : 20 év tapasztalatai: 1989 és 2009 között végzett vizsgálatok alapján = Screening and treatment of retinopathy of prematurity in Markusovszky Teaching Hospital, 1989–2009 (20 years of experiences)

A szerzők a koraszülötteknél a retinopathia (ROP) gyakoriságát vizsgálták egy megyei kórházban. Módszer: 1989. január 1. és 2009. január 1. között 543 koraszülött szemfenékvizsgálatának eredményét elemezték. Eredmények: 34 koraszülött mindkét szemén (6,3%) megtalálták a betegség tüneteit. A ROP a legnagyobb arányban, 29,5%-ban (23/78 eset) 1000 g születési súly alatt fordult elő. Spontán gyógyulás összesen 10 gyermek 19 szemén következett be. A ROP 25 újszülött 49 szemén elérte a „küszöbbetegséget”, azaz kezelést igényelt. Cryopexia 16 gyermek mindkét szemén történt, lézer-fotokoagulációt 9 koraszülött 17 szemén végeztek. A cryopexia után 26 szem gyógyult, 6 szemen a ROP tünetei progrediáltak. Lézer-fotokoagulációt követően gyógyulás 16 szemen következett be, egy szemen volt a kezelés eredménytelen. A húsz év alatt mindössze két gyermek mindkét, és három gyermek egy-egy szemén alakult ki V. stádiumú ROP. Következtetés: az előírásszerűen végzett szemészeti szűrővizsgálat és az ezek alapján kiszűrt „küszöb-ROP” eseteiben az időben elvégzett cryopexia vagy lézer-fotokoaguláció eredményes kezelésnek bizonyult a súlyos látáskárosodás megelőzésére. | The aims of this study was to obtain the frequency and therapy of retinopathy of prematurity (ROP) in Markusovszky Teaching Hospital, Szombathely, Hungary. A population based study on ophthalmological status of preterm infants was performed, between 01.01.1989 and 01.01.2009. During the study period, ophthalmological status was detected in 543 premature infants. Among them, 34 children (6.3%) suffered from retinopathy of prematurity, and all of them were bilateral. ROP occurred in the highest rate (23/78 cases, 29.5%) at the birth weight of lower than 1000 grams, but frequency was only l.2% (2/169 cases) between weight 1250–1500 grams. Spontaneous recovery was observed in 19 eyes of 10 cases. The frequency of spontaneous resolution was 40% and 50% in the group of larger birth weight: between 1251–1500 grams and weight ≥1500 grams, but on the other hand, complete recovery was only 26% (6/23 cases) below 1000 grams of birth weight. „Threshold retinopathy” (stage 3 plus), that needed therapy was detected in 25 children’s 49 eyes. Cryotherapy was performed in both eyes of 16 children (32 eyes), laser photocoagulation was performed in 9 patients (16 eyes). ROP regressed after cryotherapy in 26 eyes, but in 6 eyes symptoms progressed to stage 5. After laser photocoagulation, recovery was observed in 16 eyes; this therapy was not successful in only one case. According to our experiences, stage 5 ROP developed only in two patients’ both eyes, and in 1-1 eye of three children, during the 20 years of study. Our ophthalmological screening program proved that providing cryopexia or laser photocoagulation in time, severe visual impairment of retinopathy can be prevented. In spite of the few number of patients, this population based investigation with a long duration (20 years) offers new data in Hungarian ROP epidemiology