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Biomedical subjects

H Petzold

Publications and source records attributed to H Petzold.

At least 19 recordsLinked to original sources
PubMed2004

The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex.

The triple A syndrome (MIM#231550) is a rare autosomal recessive disorder characterized by adrenocorticotropic hormone (ACTH) resistant adrenal failure, achalasia, alacrima, and a variety of neurological and dermatological features. The triple A syndrome is caused by mutations in the AAAS gene, which encodes a protein known as ALADIN (ALacrima Achalasia aDrenal Insufficiency Neurologic disorder). ALADIN is a new WD-repeat protein that has no significant homology to any previously identified WD-repeat protein. It has been shown that it colocalizes with nuclear pore complexes (NPCs), a finding that strongly suggests an involvement of ALADIN in nucleocytoplasmic transport. An investigation of 110 families with triple A syndrome disclosed mutation hot spots including Q15K (exon 1), and S293P (exon 8), which occur in 17 and 21 families from different geographical regions, respectively. The variable phenotype of all patients cannot be correlated with the localization and the nature of the ALADIN mutations. Thus, modifying genes/factors may be involved in the progression of this neurodegenerative disease. The lack of AAAS mutations in eight patients and negative linkage to chromosome 12q13 in three families are suggestive of genetic heterogeneity. To examine the cellular localization of ALADIN mutants causing triple A syndrome, we investigated nine different ALADIN-mutants: 2 nonsense (W84X, Q456X), 2 frameshift (F157fsX171, G397fsX414) and 5 point mutations (Q15K, L25P, H160R, S263P, L381R) by transfection experiments with green fluorescence protein. Mutants were predominantly localized in the cytoplasm, but also found in the nucleus indicating that ALADIN is essential for NPC targeting. To investigate physiological functions of ALADIN in vivo, we generated and analysed Aaas-/- knockout mice by homologous recombination in embryonic stem cells. Surprisingly, required animals lack any gross abnormality in adrenal and nervous system function. Further studies have to investigate the role of ALADIN at NPCs and to identify interacting proteins. Functional analyses of ALADIN may permit further understanding of its role for adrenocortical function and neurodevelopment.

Adrenal Gland Diseases↗
PubMed2001

Cat scratch disease due to Bartonella henselae infection mimicking parotid malignancy.

An unusual Bartonella henselae infection presenting clinically as a putative parotid cancer was diagnosed based on serological tests, histomorphology and amplification of a 16S-rDNA sequence of Bartonella henselae. The patient improved greatly upon antibiotic treatment and did not require surgery. Although uncommon, infection with Bartonella spp., particularly Bartonella henselae, should be included in the differential diagnosis of parotid tumors.

Anti-Bacterial Agents↗
PubMed2001

Consecutive geoelectric measurements reveal the downward movement of an oxidation zone.

An investigation program for monitoring pyrite oxidation on a conveyer bridge dump used geoelectric measurement for monitoring the progress of pyrite oxidation within the dump. The results of the geoelectric measurement show that low soil-pH and high pore water conductivity correlate with low soil resistivity values. The soil resistivity values are dominated by high pore water conductivity. The influence of changes in water saturation on resistivity was comparably low. An increase in pyrite oxidation was observed in areas with high porosity due to low dump density. Consecutive geoelectric measurements revealed locally differentiated downward movement of an oxidation zone caused by dump heterogeneity.

Electric Conductivity↗
PubMed1995

[Psychotherapy research and child psychotherapy practice].

Psychotherapy research results are viewed under the aspect of relevance and irrelevance for psychotherapeutic practice. The difficulties to develop effective research designs for children, and adolescents are described, and possible research perspectives are developed for this complex domain. Especially the amount of variables in combination with developmental stages of children, and adolescents creates extreme difficulties to develop research designs to give an answer to the question, which therapeutic approach is better than others in the near future. Some conclusions from research results are made for psychotherapeutic practice.

Adolescent↗
PubMed1981

[Alcohol and the digestive tract].

Alcohol leads to acute and chronic defects at the alimentary tract. Immediate and indirect effects are often not to be deliminated easily in the individual case. In the oesophagus above all disturbances of motility, reduction of the tonus, gastroesophageal reflux, oesophagotitides, Barrett's syndrome and carcinoma of the oesophagus develop. The Mallory-Weiss- and the Boerhaavesyndrome are to be regarded more as indirect associated sequelae. As to the stomach haemorrhagic gastrotitides and haemorrhages from erosions of the mucous membrane, as to the intestine changes of the motility, diarrhoea and malabsorptions.

Adult↗
PubMed1980

[Laparoscopy in diseases of the extrahepatic bile ducts].

Nearly regularly the laparoscopy gives the possibility of a free vision to the gall-bladder and a reliable judgment of pathologic changes. Indications are above all clarification of the causes of cholestase, negative cholangiogram, relapsing, particularly bland chronic cholecystitis. Apart from its diagnositsc evidence the laparoscopy is able to give references to the further therapeutic approach. Laparoscopy is further indicated in suspicion of a malignant tumour. The direct and transhepatic puncture of the gall-bladder for the radiological description of the biliary ducts was no more dealt with; ERC and PTC are to be preferred to these methods.

Cholangitis↗
PubMed1979

[Laparoscopy in chronic gallbladder diseases].

The laparoscopy is the only riskless possibility of directly inspecting the gall-bladder, to ascertain the diagnosis of a chronic cholecystitis, further to consider the indications to internal or surgical measures. For the judgment the form of the gall-bladder, the behaviour of its wall with different colouring, oedema and furthermore its behaviour to neighbouring organs are of decisive evidence. In a disease of the bile-ducts the laparoscopy allows to prove or to exclude a participation of the liver. For the judgment of the activity of a disease of the gall-bladder should, however, always be used clinical and radiological findings, the microbiological investigation of the A-, B-, and C-bile and the testing of the reflex of the gall-bladder. This is necessary with regard to the therapy.

Cholecystitis↗
PubMed1979

[Dysphagia, diagnostic and therapeutic measures].

Dysphagia is a symptom of organically or functionally conditioned diseases of the oesophagus. In all circumstances it demands an immediate clarification of the etiology considering appropriate therapeutical measures and above all may be first reference to the carcinoma of the oesophagus.

Deglutition Disorders↗
PubMed1979

[Comparison of the value of ERCP, angiography and scintigraphy in pancreatic diseases].

The endoscopic retrograde cholangiopancreaticography, angiography and scintigraphy have a different value in the diagnostics of chronic pancreatitis and carcinoma of the pancreas. The scintigraphy of pancreas has the lowest value. It should not alone be the basis for making the diagnosis or planning the treatment. In chronic pancreatitis the endoscopic retrograde cholangiopancreaticography has precedence of angiography. The chronic pancreatitis may angiographically be recognised only in the late phase. However, the angiography can give valuable references to the planning of the operation. At a suspicion of the pancreas malignoma the endoscopic retrograde cholangiopancreaticography and the angiography have nearly the same value in the plan of diagnostics and they both should be performed.

Angiography↗
PubMed1977

[The effect of carbenoxolone on stress ulcers in rats].

By an immobilisation with a 72 hour's interruption of intake of fluid and nutrition stress ulcers were produced in the stomach of Wistar rats. Through a sound 34 animals received daily 25 mg/kg/body weight carbenoxolon. In them ulcers were found in nearly the same number as in the 30 controls. A conspicuous accumulation of ulcers in the pre-stomach or glandular stomach was not observed. A protective effect of the carbenoxolon could not be proved.

Animals↗
PubMed1976

[Diagnostic value of bulboscopy].

Bulboscopy is a proved routine examination in radiological suspicion of changes in the duodenum, in duodenal ulcers, haemorrhages from the superior gastrointestinal tract, also as emergency endoscopy, and in unclear epigastric complaints. The endoscopy of the duodenal bulb is better than the radiological examination, especially when a cicatricial bulb is present. Flat ulcers often cannot be proved by radiological examination. Nevertheless the radiological examination should always be carried out, as also endoscopically in the cicatricial bulb ulcers may be overseen. Endoscopically the florid duodenal ulcer can be differentiated in several groups. Some a prognostic importance is ascribed.

Duodenum↗
PubMed1975

[Chronic liver diseases with negative laboratory findings].

Chronic liver diseases may be overlooked, when regular laboratory-chemical findings are overvalued. This is important especially for those which coincide with a particupation of the bile ducts. Even in insignificant clinical references laparoscopy and biopsy under direct vision are necessary. The blind biopsy of the liver is not always sufficient as it does not regularly deliver characteristic tissue.

Biopsy↗