Signaling through Syk or CARD9 Mediates Species-Specific Anti- Protection in Bone Marrow Chimeric Mice.

The spleen tyrosine kinase (Syk) and the downstream adaptor protein CARD9 are crucial signaling molecules in antimicrobial immunity. Candida parapsilosis is an emerging fungal pathogen with a high incidence in neonates, while Candida albicans is the most common agent of candidiasis. While signaling through Syk/CARD9 promotes protective host mechanisms in response to C.

[Fabry disease--diagnostic guideline].

Fabry disease is a rare, X-linked lysosomal storage disorder that leads to accumulation of globotriaosylceramide in different tissues of the body. The disease is progressive, first symptoms usually present in childhood. Consequencies of the diseases are disability and premature death.

Transformation-specific matrix metalloproteinases (MMP)-7 and MMP-13 are expressed by tumour cells in epidermolysis bullosa-associated squamous cell carcinomas.

Background: Patients with recessive dystrophic epidermolysis bullosa (RDEB) have an increased risk of developing rapidly progressive and metastatic cutaneous squamous cell carcinomas (SCC). It is unclear why these SCC behave more aggressively than sporadic SCC. Matrix metalloproteinases (MMP) are a family of endopeptidases that contribute to growth, invasion and metastasis of SCC.

Tissue transglutaminase ELISA positivity in autoimmune disease independent of gluten-sensitive disease.

Background: Our aim was to understand why some sera from patients with a broad spectrum of autoimmune diseases or non-autoimmune diseases involving enhanced apoptosis, cell lysis and/or putative secondary autoimmune processes show reactions in the tissue transglutaminase (TGc) ELISA used for diagnosis of gluten-sensitive disease.

Methods: Sera were compared from groups of patients with autoimmune diseases, diseases involving organ specific enhanced cell death, celiac disease or dermatitis herpetiformis, diseases of non-autoimmune origin, and a group without known disease. IgA antibodies against TGc were detected using human antigen (produced recombinantly in bacterial or human cells) in different systems (non-commercial ELISA with buffers of differing NaCl concentrations, and anti-TGc sandwich ELISA).

[Late malignant transformation of chronic corrosive oesophageal strictures].

The number of patients with scar carcinoma of the oesophagus developing on the basis of a corrosive stricture seems to be rising in the past decades. Thirty six patients with this condition were treated surgically in a 20 years period; this is the second largest series in the literature. Patients with scar cancer were 7.

Identification of a novel deletion in the ABCC6 gene leading to Pseudoxanthoma elasticum.

Background: Pseudoxanthoma elasticum (PXE) is an inherited systemic disorder, characterized by dermal, ocular and cardiovascular lesions. Genetic defects of the ABCC6 (MRP6) transporter are known to cause PXE.

Objectives: The purpose of this study was to identify the genetic background of a PXE patient with a very early onset of the disease and severe systemic involvement.

Novel mutations in the ATP2C1 gene in two patients with Hailey-Hailey disease.

Benign familial chronic pemphigus (Hailey-Hailey disease, HHD) is a rare hereditary condition characterized by development of blisters at sites of friction and in the intertriginous areas. Mutations in the ATP2C1 gene, which encodes the human secretory pathway calcium ATPase 1 (hSPCA1), have been identified as possible causative mutations. Studying Hungarian patients with HHD, we found two novel, distinct, heterozygous mutations.

High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa.

Background: Mutations in the type VII collagen gene (COL7A1) are responsible for dominant and recessive forms of dystrophic epidermolysis bullosa (DEB). These mutations are usually specific for individual families; only a few cases of recurring mutations have been identified.

Objectives: Forty-three unrelated Hungarian and German patients with different DEB phenotypes were screened for novel and recurrent COL7A1 mutations.

Identification of mutations in the ATP2A2 gene in patients with Darier's disease from Hungary.

Mutation analysis in the ATP2A2 gene had been performed in eight Hungarian patients with Darier's disease (DD), to get more information about phenotype-genotype relations. All patients had moderate to severe skin symptoms. Polymerase chain reaction (PCR) amplification of the entire coding region of ATP2A2 was performed.

[Surgical treatment of acquired, benign esophago-respiratory fistulas].

Background: Acquired, benign esophago-respiratory fistula occurs as a rare complication of different disorders.

Study Design: Over a period of 30 years, 37 patients with acquired, benign esophago-respiratory fistulas were treated at the authors' institutions. 35 of the 37 patients were operated upon.

Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex.

Mutations in genes keratin 5 (KRT5) and 14 (KRT14) encoding the basal type keratin intermediate filaments have been identified in epidermolysis bullosa simplex (EBS) families and are likely to cause skin fragility. Three novel keratin 14 mutations in cases from the Hungarian Epidermolysis Bullosa Centre are reported. In a 7-year-old boy with Dowling-Meara type EBS (DM-EBS), who had severe skin symptoms with extended herpetiform blisters, a novel amino acid substitution N123K in keratin 14 had been detected.

Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma.

Congenital ichthyosiform erythroderma (CIE) belongs together with lamellar ichthyosis (LI) to the group of autosomal recessive congenital ichthyoses (ARCI). Mutations in the transglutaminase (TGase) 1 gene (TGM1) have been identified in several families with LI and in some families with CIE. We report a case of CIE with two new nonsense mutations: a C7780G transversion in exon 11 resulting in a premature stop codon at aminoacid residue Y503X and a C8533G transversion in exon 13 leading to a nonsense mutation at S669X.

Dystrophic epidermolysis bullosa complicated by cutaneous squamous cell carcinoma and pulmonary and renal amyloidosis.

A 25-year-old woman with Hallopeau-Siemens recessive dystrophic epidermolysis bullosa had generalized blistering, scarring and milia since birth. In the course of the disease, acral pseudosyndactyly developed, and the patient suffered from corneal erosions, oesophageal strictures, malabsorption, recurrent severe pneumonias and nephrotic syndrome. In addition, she had severe anaemia, sideropaenia, hypocalcaemia, heavy proteinuria and hypoalbuminaemia.

Identification of a novel mutation in 3beta-hydroxysteroid-Delta8-Delta7-isomerase in a case of Conradi-Hünermann-Happle syndrome.

The X-linked dominant Conradi-Hünermann-Happle (CDPX2, MIM 302960) syndrome belongs to the rare, heterogeneous group of diseases called chondrodysplasia punctata. The disease has been connected recently with deficiency of 3beta-hydroxysteroid-Delta8-Delta7-isomerase (also called emopamil-binding protein, EBP), catalysing an intermediate step in the conversion of lanosterol to cholesterol (1, 2). We report a case of CDPX2 with a new missense mutation (C-->G 439) in exon 4, leading to a R147G aminoacid substitution in the EBP.

Different techniques for creating oesophageal anastomoses. A historical review and personal experience.

Unlabelled: Among the surgical techniques used to create a reliable oesophageal anastomosis, mention should be made of the handmade (in one or two layers, wire or Vicryl) and the different stapler anastomoses. 41 oesophageal anastomoses were performed by stapler technique between 4 March 1985 and 4 March 1991. The EEA stapler was used in 15, and the SPTU stapler in 26 patients.

Bypass with transdiaphragmatic Roux loop in nonresectable malignant stricture of the lower oesophagus.

Bypass with a Roux-en-Y loop is proposed for palliation of nonresectable malignant obstruction in the distal oesophagus and cardia without peritoneal dissemination. Over a 15-year period, 51 transdiaphragmatic Roux-en-Y procedures with side-to-end oesophagojejunal anastomosis were performed. The 11.

[Development of esophageal cancers in patients following cardiomyotomy].

During a 20 year period we observed that in six patients with carcinoma of the esophagus associated with achalasia, four patients had had a prior Heller operation. Fifty patients with achalasia of the esophagus took part in endoscopic and histologic surveillance 5-15 years after cardiomyotomy. We have found a correlation between the severity of histologic changes and the duration of symptoms before the operation.

Late malignant transformation of chronic corrosive oesophageal strictures.

The number of patients with scar carcinoma of the oesophagus developing on the basis of a corrosive stricture seems to have been rising in the past two decades. 36 patients of this kind were treated surgically between 1965 and 1984; this is the second largest series in the literature. The patients with scar cancer comprised 7.

Complications of oesophagoplasty with isoperistaltic transverse colon.

An analysis is presented of late results in 144 reconstructions of oesophagus with transplants (137 isoperistaltic, 7 anisoperistaltic) from transverse colon for correction of stricture, mainly after corrosive trauma. The grafts were interposed retrosternally in 126 cases and intrathoracically in 18. Delayed passage due to excessive size of the colon segment was managed in four cases by plication of the intra-abdominal part of the graft or by jejunal by-pass.

Mechanical capacity of esophagogastric anastomosis at early postoperative stage.

The tensile strength of esophagogastric anastomosis was measured in 20 dogs. In case of 32 other animals the preparations were histologically examined, too. Mechanical tolerance was found significant from the 7th postoperative day on, reaching its maximum on the 15th day with no later change.