Sequence variations in the von Hippel-Lindau tumor suppressor gene in patients with intracranial aneurysms.

Background: The rupture of intracranial aneurysms leads to subarachnoid hemorrhage, which is often associated with poor outcome. Preventive treatment of unruptured intracranial aneurysms is possible and recommended. However, the lack of candidate genes precludes identifying patients at risk by genetic analyses.

Brain metastasis in pancreatic cancer.

Pancreatic cancer is a fatal disease with a 5-year survival rate below 5%. Most patients are diagnosed at an advanced tumor stage and existence of distant metastases. However, involvement of the central nervous system is rare in pancreatic cancer.

Components and strategies of nurse residency programs effective in new graduate socialization.

Patient needs and practice conditions demand that clinical nurses in acute care hospitals engage in a unique professional practice role-care and management of clinical situations for multiple patients, simultaneously. Nurse Residency Programs (NRPs) facilitate the integration of newly licensed registered nurses (NLRNs) into this professional practice role through competency development in seven management areas. Purpose of this study was to identify effective components and strategies of NRPs in each area.

Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy.

Purpose: Sodium channel gene aberrations are associated with a wide range of seizure disorders, particularly Dravet syndrome. They usually consist of missense or truncating gene mutations or deletions. Duplications involving multiple genes encoding for different sodium channels are not widely known.

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.

Background: The progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous disorders characterised by myoclonus, epilepsy, and neurological deterioration. This study aimed to identify the underlying gene(s) in childhood onset PME patients with unknown molecular genetic background.

Methods: Homozygosity mapping was applied on genome-wide single nucleotide polymorphism data of 18 Turkish patients.

Gender differences in patients treated with the zotarolimus-eluting stent at a tertiary medical center.

Background: Gender-related differences in long-term outcomes of patients receiving the Endeavor zotarolimus-eluting stent (ZES) (Medtronic) have not been well defined. In this study, we evaluate the differences between men (M) and women (W) for 2-year target vessel failure (TVF) in an unselected consecutive series of patients treated with the ZES at our institution.

Methods: Data on 197 consecutive patients (133 M, 64 W) stented with the ZES were retrospectively analyzed.

An outbreak of Shiga toxin-producing Escherichia coli O104:H4 hemolytic uremic syndrome in Germany: presentation and short-term outcome in children.

Background: In May and June 2011 the largest known outbreak of hemolytic uremic syndrome (HUS) occurred in northern Germany. Because, quite unusually, a large number of adults was affected and the causative Escherichia coli strain, serotype O104:H4, showed an atypical virulence factor pattern, it was speculated that this outbreak was associated with an aggressive course and an unfavorable prognosis also in children.

Methods: Retrospective analysis of medical records of 90 children and comparison to previous outbreak and sporadic case series.

Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

Purpose: Epilepsies have a highly heterogeneous background with a strong genetic contribution. The variety of unspecific and overlapping syndromic and nonsyndromic phenotypes often hampers a clear clinical diagnosis and prevents straightforward genetic testing. Knowing the genetic basis of a patient's epilepsy can be valuable not only for diagnosis but also for guiding treatment and estimating recurrence risks.

Establishment and characterization of primary cell lines of squamous cell carcinoma of the penis and its metastasis.

Purpose: We established cell lines from penile squamous cell carcinoma and its lymph node metastasis, and investigated the role of chemokines, chemokine receptors and podoplanin in cancer progression.

Materials And Methods: Tumor specimen of primary tumors, and lymph node and distant metastases were cultured in vitro and xenotransplanted in SCID beige mice. Specimens were analyzed by hematoxylin and eosin staining, and immunohistochemistry.

Laparoscopic splenectomy of a wandering spleen with coincidental enormous splenomegaly.

Ectopy of the spleen also referred to as wandering spleen is a rare condition and preferentially treated by laparoscopic splenopexy. However, in complicated cases with torsion and consecutive infarction of the spleen splenectomy is required. Performing the splenectomy of a wandering spleen laparoscopically has already been reported as a save therapeutic option.

Long-term survival following resection of brain metastases from pancreatic cancer.

Brain metastases originating from pancreatic cancer are associated with a dismal prognosis and, generally, therapeutic options remain palliative. We present the cases of two patients that developed brain metastases after resection of a pancreatic ductal adenocarcinoma. Brain metastases were resected successfully and neither patients developed any further tumor recurrence.

The dksA promoter is negatively feedback regulated by DksA and ppGpp.

Escherichia coli DksA is an RNA polymerase (RNAP)-binding protein required for the regulation of a number of promoters, including those for the biosynthesis of rRNA, many ribosomal proteins, components of the flagellum, and several amino acids. Previous work demonstrated that DksA protein levels do not vary greatly in different growth conditions. We show here that DksA is a stable protein whose levels are kept constant by a negative feedback loop in which transcription from the dksA promoter is inhibited by DksA protein in conjunction with its cofactor ppGpp.

Direct regulation of Escherichia coli ribosomal protein promoters by the transcription factors ppGpp and DksA.

We show here that the promoters for many of the Escherichia coli ribosomal protein operons are regulated directly by two transcription factors, the small RNA polymerase-binding protein DksA and the nutritional stress-induced nucleotide ppGpp. ppGpp and DksA work together to inhibit transcription initiation from ribosomal protein promoters in vitro and in vivo. The degree of promoter regulation by ppGpp/DksA varies among the r-protein promoters, but some are inhibited almost as much as rRNA promoters.

Arthroscopic resection arthroplasty for treatment of combined carpometacarpal and scaphotrapeziotrapezoid (pantrapezial) arthritis.

Purpose: Arthroscopy of the carpometacarpal (CMC) and scaphotrapeziotrapezoid (STT) joints has been described for the purpose of diagnosing, staging, and treating CMC and STT pathology. This study evaluates the short-term outcome of arthroscopic resection arthroplasty (ARA) for pantrapezial arthritis.

Methods: Thirty-five cases of ARA of the CMC and STT joints were performed in 34 patients with one year minimum follow-up.

Epicatechin gallate and catechin gallate are superior to epigallocatechin gallate in growth suppression and anti-inflammatory activities in pancreatic tumor cells.

Green tea catechins are considered as possible cancer preventive agents for several cancer types but little is known regarding their effects on pancreatic cancer cells. The best studied catechin and the major polyphenol present in green tea is epigallocatechin gallate (EGCG). In the present study, we investigated the in vitro anti-tumoral properties of EGCG on human pancreatic ductal adenocarcinoma (PDAC) cells PancTu-I, Panc1, Panc89 and BxPC3 in comparison with the effects of two minor components of green tea catechins, catechin gallate (CG) and epicatechin gallate (ECG).

Synthesis, structural characterisation and anti-proliferative activity of NHC gold amino acid and peptide conjugates.

We report the synthesis of new NHC gold(I) and NHC gold(III) halide, amino acid and dipeptide complexes. Transmetallation of the N-phenylalanine-substituted NHC silver complex 3 with Me2SAuCl yields the phenylalanine-NHC gold(I) conjugate 4a. Halide exchange with LiBr and oxidation of 4a with Br2 in CH2Cl2 yields the phenylalanine-NHC Au(I) and Au(III) bromides 4b and 4c, respectively.

TRAIL signaling is mediated by DR4 in pancreatic tumor cells despite the expression of functional DR5.

Tumor necrosis factor related apoptosis-inducing ligand (TRAIL) and agonistic anti-DR4/TRAIL-R1 and anti-DR5/TRAIL-R2 antibodies are currently under clinical investigation for treatment of different malignancies. TRAIL activates DR4 and DR5 and thereby triggers apoptotic and non-apoptotic signaling pathways, but possible different roles of DR4 or DR5 in these responses has poorly been addressed so far. In the present work, we analyzed cell viability, DISC formation as well as IL-8 and NF-kappaB activation side by side in responses to TRAIL and agonistic antibodies against DR4 (mapatumumab) and against DR5 (lexatumumab) in pancreatic ductal adenocarcinoma cells.

ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.

Purpose: To identify the causative mutation leading to autosomal dominant macular dystrophy, cone dystrophy, and cone-rod dystrophy in a five-generation family and to explain the high intrafamilial phenotypic variation by identifying possible modifier genes.

Methods: Fifteen family members were investigated by detailed ophthalmic and electrophysiologic phenotyping. Mutation screening was initially performed with microarrays that detect known mutations in genes associated with retinal degeneration.

Aprotinin-associated risks in off-pump coronary artery bypass grafting.

Background: Little data is available regarding the safety of using the serine protease inhibitor aprotinin in off-pump cardiac surgery. We retrospectively assessed the risks of administering the drug to adult patients undergoing off-pump coronary artery bypass grafting (OPCABG).

Methods: Aprotinin was administered as a bolus of 1 or 2 million kallikrein inhibiting units to 391 patients following median sternotomy; 370 control patients underwent surgery during the same time period without receiving aprotinin.

DksA and ppGpp directly regulate transcription of the Escherichia coli flagellar cascade.

The components of the Escherichia coli flagella apparatus are synthesized in a three-level transcriptional cascade activated by the master regulator FlhDC. The cascade co-ordinates the synthesis rates of a large number of gene products with each other and with nutritional conditions. Recent genome-wide studies have reported that flagellar transcription is altered in cells lacking the transcription regulators DksA or ppGpp, but some or all reported effects could be indirect, and some are contradictory.

Endoscopic cubital tunnel recurrence rates.

Cubital tunnel syndrome is the second most common nerve entrapment in the upper extremity. There are no current publications concerning the recurrence rates after endoscopic cubital tunnel release. The purpose of this study is to evaluate the recurrence rate of endoscopic cubital tunnel release compared to published reports of recurrence following open cubital tunnel procedures.

Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence?

We report on an adolescent female with Velocardiofacial syndrome (del(22)(q11.2)) and an epilepsy phenotype resembling juvenile myoclonic epilepsy (JME). Clinically, the patient has characteristic signs of both disorders.