Wilson's disease is a recessively inherited disorder of copper metabolism that is accompanied by a toxic accumulation of copper. The "Wilson's disease gene" is located on chromosome 13, and is most certainly identical will, the ATPase 7B protein. The exact localisation of the gene is still a matter of controversy, and more than 100 mutations are already known. With regard to diagnostic and treatment, the decades old standards continue to be valid.
Acid related diseases are a common clinical problem. Gastrooesophageal reflux disease, noncardiac chest pain and reflux-associated chronic cough and asthma are the most important manifestations. Invasive diagnostic tools are gastroscopy and 24-h pH-metry. A different approach to these patients is empiric proton pump inhibitor treatment. Several studies are discussed.
Cystic fibrosis is one of the most common hereditary caucasian diseases. Gene frequency ranges between 1 : 20 to 1 : 25. The gene defect is located on chromosome 7 and the gene codes for a transmembrane protein, CFTR (cystic fibrosis transmembrane conductance regulator), which is involved in chloride secretion. Functional impairment leads to changes in electrolyte concentrations of different body fluids. in the liver CFTR is expressed in the biliary epithelial cells. Mutations lead to impairment of bile secretion with consecutive liver damage. New therapeutic challenges try to restore transmembrane chloride fluxes. one is ursodeoxycholic acid (UDCA) which activates calcium dependent chloride channels. However, only gene therapy is able to restore CFTR function. The selective gene application to the liver is far from being practicable. An expanded form of gene therapy however; liver transplantation, has clinical success. Basic research has improved our knowledge about cystic fibrosis and has brought us new therapeutic options. For the liver most of these options are still experimental.
Pneumatosis cystoides intestinalis (PCI) is a rare, usually benign condition characterised by multiple gas-filled cysts within the submucosa or subserosa of the bowel wall. It may involve any segment of he gastrointestinal tract and can mainly be found in the small or large bowel. The etiology; of PCI remains unknown. We report a case of a 52-year-old woman with symptomatic PCI of the left colon, that had been misdiagnosed for more than two months After diagnosis she had been treated with oxygen therapy applied by mask and oral therapy with metronidazol. Although clinical symptoms resolved within the first 48 hours, some cysts persisted after a treatment period of two weeks. The therapy with oxygen and metronidazol was repeated two months later After this course of treatment all cysts had disappeared and the patient remains free of disease. A comprehensive survey of epidemiology, symptoms, diagnosis, etiology and therapy of PCI will be presented.
A 63-year-old man presented with a three-week history of fever, anorexia and right sided abdominal pain. Clinical examination showed tenderness below the right costal margin and a poor dental status. The body temperature was 38.9 degrees C. Biochemical results showed signs of acute infection, gamma-GT was 59 U/l. Ultrasound and computed tomography revealed a large formation in the right lobe of the liver. Blood cultures on admission contained streptococcus intermedius. Ultrasound-guided puncture of the formation emptied purulent material, again streptococcus intermedius was detectable. Investigations to identify the septic focus first remained unsuccessful. Orthopantomography because of the poor dental status was the next diagnostic step. It showed a dental granuloma around tooth 33. In it again growth of streptococcus intermedius could be detected. After antibiotic treatment and percutaneous drainage of the liver abscess the patient became afebrile, recovered soon and remained asymptomatic.
Chromoendoscopy or tissue staining is an endoscopic technique that involves the topical application of stains mostly combined with the use of high resolution video endoscopy to improve localization and characterization of even small malignant or premalignant lesions, which enables direct biopies. Tissue staining generally refers to the application of stains by spraying through a special spray catheter. The agents used in chromoendoscopy are characterized into contrast stains (indigo carmine), reactive stains (congo red) and absorptive or vital stains (Lugol's solution, methylene blue). Even smallest or depressed lesions in the colorectum bearing a great malignant potential can be detected and characterized by using indigo carmine staining. Lugol's solution has an affinity for glycogen in nonkeratinized squamous epithelium. Normal squamous epithelium will stain black, dark or green-brown. The absence of dye uptake in the esophagus is associated with a depletion of glycogen in squamous cel cancers, inflammatory change or in Barrett's metaplastic epithelium. Methylene blue is a vital staining taken up by actively absorbing tissues such as intestinal metaplasia of the stomach or esophagus (Barrett's esophagus). Chromoendoscopy requires minimal equipment and is performed generally in few minutes (up to 10 minutes). Chromoendoscopy improves the quality of diagnostic and therapeutic gastrointestinal endoscopy, that has so far not been possible with conventional endoscopy, and it will enable early detection of malignant and premalignant lesions in screening patient.
Primary Amyloidosis or the secondary form accompanying chronic inflammatory or immunproliferative disorders involves deposition of insoluble extracellular protein with peculiar staining characteristics The main organs involved with prognostic significance are the kidneys, heart and endokrine glands However every organ and soft tissue may be affected, the GIT is rarely involved: Here resorption abnormalities are manifest We describe a case of massive intestinal Amyloidosis concomitant with a monoclonal gammopathy of unknown significance, which lead to perforation of the small intestine.
Multiple rib fractures induced by severe coughing are seldom. Spontaneous ruptures of the diaphragm are absolutely rare. We describe the combination of these two disorders caused by extreme coughing for the first time. We present the case of multiple rib fractures and spontaneous rupture of the diaphragm caused by severe coughing in a 75-year-old man with chronic obstructive bronchitis.
