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  • 1
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary 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. A rapidly growing skin squamous cell carcinoma developed on the neck that spread to axillary and cervical lymph nodes. Recurrent hypocalcaemic tetanic convulsions and dyspnoea and a pneumonia refractory to antibiotics led to the premature demise of the patient. Autopsy revealed extensive amyloidosis of the renal, hepatic and splenic tissues. AA type amyloid deposits were detected in the renal glomeruli and in the lung, explaining the patient's unusually severe pulmonary infections. In essence, the patient had severe recessive dystrophic epidermolysis bullosa, complicated by squamous cell carcinoma, recurrent pneumonias and nephrotic syndrome due to secondary amyloidosis of the kidney and lung. The possibility of secondary pulmonary amyloidosis should be considered in severe dystrophic epidermolysis bullosa patients with recurrent pulmonary infections.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 30 (2005), S. 0 
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: 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. In a 65-year-old man with a 41-year history of severe recurrent symptoms, a single nucleotide insertion, 1085insA, was detected. In a patient whose symptoms were induced by environmental contact allergens, we found a nonsense mutation, Q506X, in exon 17. Our study further illustrates the diversity of mutational events in the pathogenesis of HHD.
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  • 3
    Electronic Resource
    Electronic Resource
    Oxford, UK; Malden, USA : Munksgaard International Publishers
    Experimental dermatology 13 (2004), S. 0 
    ISSN: 1600-0625
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract:  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. Mutation detection strategies included heteroduplex scanning by conformation-sensitive gel electrophoresis (CSGE) and direct nucleotide sequencing. We found distinct, heterozygous mutations (five missense, one nonsense, one deletion, and one insertion), six of which were novel. In a 31-year-old DD woman with learning difficulties we disclosed a previously described missense mutation (D702N) in exon 15. A 44-year-old DD woman had a novel T insertion at nucleotide 559 in exon 7 of the ATP2A2 gene, which resulted in a premature termination codon (PTC) at codon 192. A woman, whose skin symptoms developed unusually late, at the age 50, had a new T deletion (1320delT) in exon 11 resulting in a PTC at codon 448. Our most severe case had a known missense mutation N39T, resulting in a non-conservative amino acid change at the upstream stalk region. Three new missense mutations (A161D, R164S, and Q790P) affected conservative regions of the SERCA2 protein within the activation (A)-domain and the M6 transmembrane region. A further new nonsense mutation (C909X) was detected in the M8 transmembrane domain. Our data suggest that differences in DD phenotypes are probably also related to factors different from the type of causative mutation.
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  • 4
    Electronic Resource
    Electronic Resource
    Copenhagen : Munksgaard International Publishers
    Experimental dermatology 10 (2001), S. 0 
    ISSN: 1600-0625
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract: 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 3β-hydroxysteroid-Δ8-Δ7-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.
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  • 5
    ISSN: 1600-0625
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract: 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. These mutations were also identified in a heterozygous pattern in the unaffected parents. These two termination-codons result in the translation of a truncated protein at the C-terminal end domain of the TGM 1 molecule. B.C1 monoclonal antibody failed to detect TGase 1 in the patient's skin sample, and TGase activity measured by monodansyl cadaverine-incorporation showed the reduced TGase activity at the distribution of TGase 1 in the epidermis.
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  • 6
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: 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.Methods  All patients were classified based on clinical and genetic findings, skin immunofluorescent antigen mapping, and electron microscopic studies. Mutation analysis was performed by amplification of genomic DNA with polymerase chain reaction using COL7A1-specific primers, heteroduplex analysis, and direct nucleotide sequencing. Restriction endonuclease digestion was used for family screening and mutation verification.Results  In this group of patients, the splice-site mutation 425A→G was observed frequently, in 11 of 86 alleles (12·8%), once in homozygous form and in nine cases in heterozygous form. One of 100 control alleles from clinically unaffected individuals also carried the mutation. We also identified three novel mutations: the 976-3C→A splice-site mutation, and the 4929delT and 8441-15del20 deletions.Conclusions  High recurrence of the splice-site mutation 425A→G in central European patients with DEB should be taken into account when designing COL7A1 mutation detection strategies. Reporting of three novel COL7A1 mutations in this study further emphasizes the molecular heterogeneity of DEB and provides more information for studies on genotype–phenotype correlations in different DEB subtypes.
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Langenbeck's archives of surgery 357 (1982), S. 63-69 
    ISSN: 1435-2451
    Keywords: Ischämische Strikturen ; Roux-schlingge ; Oesophagus ; Resektion
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Three cases of stenosis of a Roux loop are presented, following the replacement of the lower third of the esophagus resected for cancer. In each case fibrotic stenosis developed 6 weeks after reconstruction, which was attributed to ischemia: in one case it was due to reduced blood flow during digitalization and in the other two cases to the vascular compression of the supplying vessels because of unsatisfactory dilatation of the hiatus.
    Notes: Zusammenfassung Drei Fälle von Strikturen der intrathorakalen Roux-Schlinge nach Ersatz des unteren Drittels des wegen Krebs resezierten Oesophagus werden berichtet. 6 Wochen nach Rekonstruktion traten in jedem Fall fibrotische Strikturen auf, die auf Ischämie zurückzuführen waren, in einem Fall wegen eines reduzierten Butflusses während Digitalisierung, in den beiden anderen Fällen wegen vasculärer Kompression der Versorgungsgefäße wegen nicht zufriedenstellender Dilatation des Hiatus.
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    Langenbeck's archives of surgery 368 (1986), S. 163-172 
    ISSN: 1435-2451
    Keywords: Achalasia ; Cardiomyotomy ; Carcinoma of the esophagus ; Endoscopic surveillance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung In einem Zeitraum von 20 Jahren kam es in sechs Fällen zu einem auf dem Boden einer Achalasie entstandenen Speiseröhrencarcinom. Von den sechs Patienten war bei vieren zuvor eine Hellersche Myotomie vorgenommen worden. Wir führten bei 50 vor 5–15 Jahren kardiomyotomierten Patienten eine endoskopische Kontrolluntersuchung durch und stellten fest, daß ein Zusammenhang zwischen der Dauer der dysphagischen Anamnese und dem Schweregrad der Schleimhautveränderungen besteht. Deshalb sind eine frühzeitige Therapie bei Achalasie und eine systematische Kontrolluntersuchung der kardiomyotomierten Patienten, wegen der erhöhten Entartungsgefahr, von besonderer Bedeutung.
    Notes: Summary 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. It seems reasonable to advise early therapy to avoid the development of a dilated, poorly emptying esophagus. Our results suggest that long-term regular surveillance of the patient with achalasia is essential even after surgical treatment.
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Langenbeck's archives of surgery 365 (1985), S. 231-238 
    ISSN: 1435-2451
    Keywords: Oesophaguscarcinom ; Verätzung ; Narbencarcinom ; Maligne Transformation ; Verätzungsbedingte Oesophagusstriktur
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary 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 7.2% of the overall oesophageal carcinoma cases; this ratio is currently the highest of all in the literature. The interval between the caustic burn and the diagnosis of scar carcinoma was found to be 46.1 years; this is higher than the 30–35 years generally accepted so far. It was 50.9 years in those patients who drank lye before the age of 12, but 14 years less when it happened in adulthood. The long-term survival time proved to be excellent: 45.6% of the resected cases were alive after 5 years and 14.4% after 10 years. The explanation of the good prognosis lies in the fact that carcinoma developing in a lye stricture is at first surrounded by a rigid scar which allows only its intraluminal growth, and it causes early dysphagia through luminal obstruction. Early dissemination is prevented for the same reason. One-stage resection and replacement is suggested in the radically operable cases. In patients with oesophageal corrosive stricture which needs operation, both a by-pass procedure and resection can be adopted, but it should be pointed out that malignancy may develop even years after the operation in the remaining part of the gullet. Total oesophagectomy is therefore suggested instead of bypass.
    Notes: Zusammenfassung Die Zahl der Patienten mit Narbencarcinomen des Oesophagus, die durch verätzungsbedingte Strikturen entstanden sind, scheint in den letzten beiden Jahrzehnten angestiegen zu sein. 36 Patienten mit dieser Erkrankung wurden zwischen 1965 und 1984 chirurgisch behandelt; dies ist die zweitgrößte Fallzahl, die in der Literatur bisher beschrieben wurde. Patienten mit Narbencarcinomen machen 7,2% der Gesamtzahl an Oesophaguscarcinomen aus; dieses Verhältnis ist zur Zeit das höchste in der Literatur. Das Intervall zwischen der Verätzung und der Diagnosestellung eines Narbencarcinoms beträgt 46,1 Jahre; es liegt damit höher als die bisher allgemein angenommenen 30–35 Jahre. Das Intervall beträgt 50,9 Jahre bei den Patienten, die vor ihrem 12. Lebensjahr Lauge getrunken hatten, ist aber um 14 Jahre kürzer, wenn die Verätzung im Erwachsenenalter stattgefunden hatte. Die Langzeit-Überlebensrate erwies sich als ausgezeichnet: 45,6% der resezierten Fälle waren nach 5 Jahren noch am Leben, 14,4% nach 10 Jahren. Die Erklärung für die gute Prognose liegt darin, daß das Carcinom, welches sich in einer Laugenstriktur entwickelt, zunächst von einer rigiden Narbe ummauert ist, welche nur die intraluminale Ausbreitung erlaubt, wobei durch die Einengung des Lumens eine frühe Dysphagie hervorgerufen wird. Eine frühzeitige Dissemination wird aus dem gleichen Grunde verhindert. Bei kurativen Eingriffen wird die einseitige Resektion und der Ersatz vorgeschlagen. Patienten mit einer operationsbedürftigen Oesophagusverätzungsstriktur können sowohl durch eine Bypassoperation als auch Resektion behandelt werden, es muß aber darauf hingewiesen werden, daß sogar noch Jahre nach der Operation eine Malignitätsentwicklung im zurückbleibenden Teil der Speiseröhre möglich ist. Die totale Oesophagektomie wird daher an Stelle des Bypassverfahrens vorgeschlagen.
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  • 10
    Publication Date: 2016-07-09
    Description: Integrated Palliative Care (PC) strategies are often implemented following models, namely standardized designs that provide frameworks for the organization of care for people with a progressive life-threatenin...
    Electronic ISSN: 1472-684X
    Topics: Medicine
    Published by BioMed Central
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