Andrea Nagy

Integration of ground aerogel particles as chromatographic stationary phase into microchip

C16 modified and ground monolithic silica aerogel particles in submicrometer size, as a new type of stationary phase was prepared and integrated in polydimethylsiloxane (PDMS) microchip. The aerogel particles were packed into the microfluidic channel using a simple procedure, which does not require any special frit or fabrication step to retain the particles. The subnanoliter volume of samples can be transported through the porous, short length of packing with low pressure (< 3 bar). Food dyes as test components could be separated using low pressure within 6s. A 50-fold preconcentration could be achieved by retaining 100 nL volume of sample on the packing and elution with methanol.

Packed multi-channels for parallel chromatographic separations in microchips

Here we report on a simple method to fabricate microfluidic chip incorporating multi-channel systems packed by conventional chromatographic particles without the use of frits. The retaining effectivities of different bottlenecks created in the channels were studied. For the parallel multi-channel chromatographic separations several channel patterns were designed. The obtained multipackings were applied for parallel separations of dyes. The implementation of several chromatographic separation units in microscopic size makes possible faster and high throughput separations.

In utero incarceration of congenital diaphragmatic hernia.

In utero diagnosis of incarcerated congenital diaphragmatic hernia has never been reported. In our case, congenital diaphragmatic hernia presented at 34 weeks of gestation with dilated bowel loops, pleural effusion, and ascites on fetal ultrasound. Preterm delivery and emergency exploration revealed a tight posterolateral diaphragmatic defect with extensive bowel infarction.

Candida endocarditis in a premature infant

Abstract Endocarditis is an uncommon complication of invasive candidiasis. We present a fatal case of endocarditis caused by Candida albicans in a very low birth weight infant. The 780-g male infant did not have any structural heart disease and a central venous catheter was not placed. Endocarditis developed in spite of parenteral fluconazole treatment. Echocardiography was a valuable tool in making the diagnosis. The infant died on the 40th day of life. The development of Candida endocarditis in a premature infant who was treated with fluconazole had not been previously reported. In the case of systemic candidiasis, premature infants require very careful monitoring for the progression of the disease, even if antifungal therapy is administered.

Recycling of bowel content: the importance of the right timing.

INTRODUCTION Extracorporeal stool transport (recycling of chyme discharged from the proximal stoma end to the distal end of a high jejunostomy or ileostomy) is thought to be beneficial in preventing malabsoprtion, sodium loss, cholestasis and atrophy of the distal intestine until restoration of the intestinal continuity becomes possible. However little is known about its adverse effects. Our aim was to investigate the microbiological safety of recycling. MATERIAL AND METHOD Native samples were taken from the proximal stoma in 5 premature neonates who underwent an ileostomy or a jejunostomy due to necrotising enterocolitis, for qualitative culture. The first sample was drawn immediately after the change of the stoma bag, further samples were sent from the stoma bag at 30, 60, 90, 120, 150, and 180min later. The samples were inoculated by calibrated (10 μl) loops onto blood agar (5% sheep blood), eosin-methylene blue agar and anaerobic blood agar, respectively (Oxoid). The aerobic plates were incubated for 18-20 h at 5% CO2, whereas the anaerobic plates were incubated for 24-48 h in an anaerobic chamber (Concept 400). The bacterial strains were identified to species level by specific biochemical reactions, RapID-ANA II system (Oxoid) and ID32E, Rapid ID 32 Strep ATB automatic system cards (bioMérieux). RESULTS The number of colony forming unit (CFU) of Gram-negative bacteria (mainly E. coli) exponentially increased after 30 min and reached 10(5)/ml after 120 min. Gram-positive strains (primarily E. faecalis) were detected after 60 min and CFU increased to 10(5)/ml after 120 min. The number of anaerobic (principally Bacteroides fragilis) CFU started to increase after 120 min. In two cases coagulase negative Staphylococcus strains were isolated the earliest in the chyme. The average of total CFU approached 10(5)/ml after 90 min and exceeded 10(5)/ml after 120 min. CONCLUSION The chyme in the stoma bag is colonized by commensal facultative pathogenic enteral/colonic as well as skin flora species after 120 min. Recycling of stoma bag content may be dangerous after 90 min.

Pyloric atresia associated with Dieulafoy lesion and gastric dysmotility in a neonate

In this case study, we report a male infant with pyloric atresia, extreme gastric distension, and a caliber-persistent gastric artery (Dieulafoy lesion) with massive gastric bleeding. After a transverse pyloroplasty and endoscopic hemoclip application to the caliber-persistent gastric artery, very slow gastric emptying developed, which required repeated surgical interventions. Gastroduodenostomy failed to promote gastric emptying. The intraoperative and postmortem histologic examinations of the gastric wall revealed a loss of interstitial cells of Cajal, which possibly explains the extreme motility disorder.

Clinical and genetic characteristics of craniosynostosis in Hungary

Craniosynostosis, the premature closure of cranial sutures, is a common craniofacial disorder with heterogeneous etiology and appearance. The purpose of this study was to investigate the clinical and molecular characteristics of craniosynostoses in Hungary, including the classification of patients and the genetic analysis of the syndromic forms. Between 2006 and 2012, 200 patients with craniosynostosis were studied. Classification was based on the suture(s) involved and the associated clinical features. In syndromic cases, genetic analyses, including mutational screening of the hotspot regions of the FGFR1, FGFR2, FGFR3, and TWIST1 genes, karyotyping and FISH study of TWIST1, were performed. The majority (88%) of all patients with craniosynostosis were nonsyndromic. The sagittal suture was most commonly involved, followed by the coronal, metopic, and lambdoid sutures. Male, twin gestation, and very low birth weight were risk factors for craniosynostosis. Syndromic craniosynostosis was detected in 24 patients. In 17 of these patients, Apert, Crouzon, Pfeiffer, Muenke, or Saethre–Chotzen syndromes were identified. In one patient, multiple‐suture craniosynostosis was associated with achondroplasia. Clinical signs were not typical for any particular syndrome in six patients. Genetic abnormalities were detected in 18 syndromic patients and in 8 relatives. In addition to 10 different, known mutations in FGFR1,FGFR2 or FGFR3, one novel missense mutation, c.528C>G(p.Ser176Arg), was detected in the TWIST1 gene of a patient with Saethre–Chotzen syndrome. Our results indicate that detailed clinical assessment is of paramount importance in the classification of patients and allows indication of targeted molecular testing with the highest possible diagnostic yield.

Achondroplasia with multiple-suture craniosynostosis: a report of a new case of this rare association.

We report on a female patient with an exceedingly rare combination of achondroplasia and multiple‐suture craniosynostosis. Besides the specific features of achondroplasia, synostosis of the metopic, coronal, lambdoid, and squamosal sutures was found. Series of neurosurgical interventions were carried out, principally for acrocephaly and posterior plagiocephaly. The most common achondroplasia mutation, a p.Gly380Arg in the fibroblast growth factor receptor 3 (FGFR3) gene, was detected. Cytogenetic and array CGH analyses, as well as molecular genetic testing of FGFR1, 2, 3 and TWIST1 genes failed to identify any additional genetic alteration. It is suggested that this unusual phenotype is a result of variable expressivity of the common achondroplasia mutation.

Lymphangioma of the sphenoid sinus

Lymphangiomas are rare benign lymphatic tumours found predominantly in the head and neck region. A case of a cavernous lymphangioma isolated to the sphenoid sinus is described. The authors emphasize the extreme rarity of the isolated sphenoid lymphangioma, as to their knowledge this is the first report in the English literature.

Down-regulation of increased TRAF6 expression in the peripheral mononuclear cells of patients with primary Sjögren's syndrome by an EBV-EBER1-specific synthetic single-stranded complementary DNA molecule

We described earlier a simultaneously increased that the increased expression of miRNA‐146a/b was accompanied by an increase in the expression of and TRAF6 and a decrease in the expression of IRAK1 genes in the peripheral mononuclear cells (PBMCs) of patients with primary Sjogrens syndrome (pSS) patients. Recently, the expression of EBV encoded. RNA (EBER) was published in the B cells of salivary glands of in pSS. In the present study, we applied an EBV‐EBER1 specific synthetic single stranded complementary DNA molecule (EBV‐EBER1‐cDNA) to test whether any EBER1 related effect exists also in PBMCs of pSS patients.