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Biomedical subjects

G Schulthess

Publications and source records attributed to G Schulthess.

At least 37 records · Page 2Linked to original sources
PubMed2003

["Gout tophi" and heart disease in the family].

A 35-year old man immigrated from Indonesia presented with "gout tophi" at his hands and lower extremities. Mother, aunt and uncle of this patient also suffered from "gout tophi" as well as a heart disease not exactly known to the patient. Clinical investigation was suspicious for tendon xanthomas and revealed arcus lipoides corneae of both eyes. Total cholesterol was 10.5 mmol/l and HDL cholesterol was 0.8 mmol/l. Genetic investigation showed heterozygous familial hypercholesterolemia, i.e., heterozygous mutation of the gene encoding the LDL receptor protein. The patient was treated with atorvastatin 20 mg daily and a low cholesterol diet. Total cholesterol decreased to 6.5 mmol/l and HDL cholesterol increased to 1.5 mmol/l within 2-month treatment. We recommended the determination of serum lipids in further members of this family and genetic evaluation of the patient's children with regard to the mutation identified.

Adult↗
PubMed2003

[Backache and palmar eczema (SAPHO syndrome)].

HISTORY AND ADMISSION FINDINGS: A 63-year-old female painter was referred for evaluation of the cause of persistent back pain, night sweat and an elevated blood sedimentation rate. Besides, she reported recurrent, probably "atopic eczema" of both hands. Clinical examination revealed midthoracic back pain but no actual skin lesions. INVESTIGATIONS: Contrast medium-enhanced magnetic resonance tomography of the spine showed an increased signal intensity of the thoracic vertebral bodies 6 - 10 and the prevertebral soft tissue in T1-weighted images with fat suppression. The finding was considered to be suspicious for malignant neoplasia. Despite performing various diagnostic tests, neither a malignant nor an infectious process of the spine could be diagnosed. DIAGNOSIS, TREATMENT AND COURSE: In-depth evaluation of history and clinical findings gave the diagnosis of SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis and osteitis). CONCLUSION: The intention of this case report is to demonstrate, once more, the importance of carefully taking a patient's history and fully evaluating the clinical findings.

Acquired Hyperostosis Syndrome↗
PubMed2003

[Insidious aspects of small pulmonary coin lesions].

After his girl friend had been diagnosed with active pulmonary tuberculosis, a 45-year old male was referred to rule out transmission of this disease. The chest x-ray showed no signs of tuberculosis, however a small retrosternal lung nodule was found on the lateral film. Three months later, the nodule showed an increase in size and a CT of the chest was performed: No nodule could be found in the expected retrosternal location, but incidentally a small nodule in the right upper lobe was identified. This nodule could retrospectively be identified on the previous chest X-rays, its size had been increasing. After surgical removal, the lesion was diagnosed to be an adenocarcinoma T1, N0, M0. Careful follow-up of small intrapulmonary nodules detected on chest X-rays is highly advisable, especially in smokers of middle and older age bronchial carcinoma and therefore a straight forward approach with excision of the nodule should be considered. Nodules have to be surgically removed if an increase in size can be noted.

Adenocarcinoma↗
PubMed2003

[Elevated liver values of uncertain origin].

A 31-year old Egyptian was referred to evaluate the etiology of elevated liver enzymes. The patient had been suffering from diabetes type 1 for three years and complained about episodes of light diarrhea. Laboratory investigation revealed a moderate elevation of cholestatic enzymes. Ultrasound examination and computed tomography did not show mechanical biliary obstruction. Drug-induced cholestasis, viral hepatitis and primary biliary cirrhosis could be excluded as well. Finally, schistosomiasis mansoni was diagnosed by microscopic stool examination as well as histological evaluation of biopsy specimens obtained during colonoscopy. This parasitic disease may cause slowly progressive liver injury by the release of schistosome eggs into the portal vein system. Histological evaluation of liver specimens of this patient showed portal inflammation and the presence of pigmented macrophages. This pattern, though unspecific, was consistent with the diagnosis of schistosomiasis mansoni. Treatment with praziquantel resulted in regression of diarrhea episodes and normalization of cholestatic enzymes within three months.

Adult↗
PubMed2003

[Muscle weakness].

A 31-year old cook suffered from episodes with muscular weakness since 3 weeks. These episodes resolved, at times, spontaneously and completely after a few hours. The weakness affected mainly the muscles of trunk and proximal extremities. Investigation of the patient revealed flaccid tetraparesis with diminished tendon reflexes, however, cranial muscles were not affected. Mental function and sensibility were intact. These findings were consistent with hypopotassemic periodic paralysis rather than a neurological or psychiatric disease. Serum potassium was determined as 1.8 mmol/l. Moreover, the patient suffered from atrial fibrillation. Grave's disease could be identified as the underlying cause of hypopotasemic periodic paralysis and atrial fibrillation. Further manifestations of primary hyperthyroidism were nervousness, diarrhea and weight loss of 5 kg observed during the previous months. The symptoms resolved under treatment with potassium, betablocker and thyrostatic agents. The patient was treated with warfarin because of atrial fibrillation and finally underwent electroconversion.

Adrenergic beta-Antagonists↗
PubMed2002

Coincidence of Behçet's disease and SAPHO syndrome.

A young woman presented with deteriorated visual acuity due to acute retinal vasculitis. The diagnosis of Behçet's disease was made on the basis of the ophthalmologic findings and recurrent oral and genital aphthous ulcerations. In the past, this young woman had been operated on several times because of progressive aseptic osteitis of the right clavicle. The actual examination revealed chronic osteitis, osteosclerosis and hyperostosis of the anterior chest wall, as well as severe acne papulopustulosa et conglobata. These findings resulted in an additional diagnosis of SAPHO syndrome. This report is the first description of Behçet's disease occurring in association with SAPHO syndrome, both fulfilling the diagnostic criteria.

Acquired Hyperostosis Syndrome↗
PubMed2001

Role of scavenger receptors SR-BI and CD36 in selective sterol uptake in the small intestine.

The serum lipoprotein high-density lipoprotein (HDL), which is a ligand of scavenger receptors such as scavenger receptor class B type I (SR-BI) and cluster determinant 36 (CD36), can act as a donor particle for intestinal lipid uptake into the brush border membrane (BBM). Both cholesterol and phospholipids are taken up by the plasma membrane of BBM vesicles (BBMV) and Caco-2 cells in a facilitated (protein-mediated) process. The protein-mediated transfer of cholesterol from reconstituted HDL to BBMV depends on the lipid composition of the HDL. In the presence of sphingomyelin, the transfer of cholesterol is slowed by a factor of about 3 probably due to complex formation between cholesterol and the sphingolipid. It is shown that the mechanism of lipid transfer from reconstituted HDL to either BBMV or Caco-2 cells as the acceptor is consistent with selective lipid uptake: the lipid donor docks at the membrane-resident scavenger receptors which mediate the transfer of lipids between donor and acceptor. Selective lipid uptake implies that lipid, but no apoprotein is transferred from the donor to the BBM, thus excluding endocytotic processes. The two BBM models used here clearly indicate that fusion of donor particles with the BBM can be ruled out as a major mechanism contributing to intestinal lipid uptake. Here we demonstrate that CD36, another member of the family of scavenger receptors, is present in rabbit and human BBM vesicles. This receptor mediates the uptake of free cholesterol, but not of esterified cholesterol, the uptake of which is mediated exclusively by SR-BI. More than one scavenger receptor appears to be involved in the uptake of free cholesterol with SR-BI contributing about 25% and CD36 about 35%. There is another yet unidentified protein accounting for the remaining 30 to 40%.

Adenocarcinoma↗
PubMed2000

[Chronic abdominal pain in a young diabetic patient].

We report on a 33-year-old patient from Sri Lanka who had been suffering from recurrent episodes of abdominal cramps since he was ten years old. He additionally suffered from postprandial flatulence and an increased frequency of bowel movements. By the age of 24, his condition had worsened with polyuria and polydipsia and he was diagnosed with type II diabetes mellitus. Recently, the patient's compliance deteriorated steadily and his diabetes mellitus was uncontrolled. His flatulence continued and he had six to seven bowel movements daily. He presented to us with renewed bouts of severe stomach cramps, similar to the painful episodes that the patient experienced in his youth. After exclusion of other etiologies and judging by the clinical picture, the patient's origin and the sonographically and radiologically verified pancreatic calcification, we rendered the diagnosis of a tropic calcifying pancreatitis with secondary diabetes mellitus. According to the literature, malignant neoplasia may develop on the basis of this disease. However, we were able to rule out a carcinoma as the cause of the current pain episodes in this patient based on clinical findings and course. We attributed the stomach cramps to compression of the common bile duct by the fibrotic head of pancreas. Pain and cholestasis regressed, thus obviating the need for surgical intervention (pancreaticojejunostomy). On therapy with enzyme substitution and insulin, the patient's exo- and endocrine pancreatic insufficiency was asymptomatic.

Abdominal Pain↗
PubMed2000

Intestinal sterol absorption mediated by scavenger receptors is competitively inhibited by amphipathic peptides and proteins.

Exchangeable serum apolipoproteins and amphipathic alpha-helical peptides are effective inhibitors of sterol (free and esterified cholesterol) uptake at the small-intestinal brush border membrane. The minimal structural requirement of an inhibitor is an amphipathic alpha-helix of 18 amino acids. The inhibition is competitive, indicating that the inhibitor binds to scavenger receptor class B type I (SR-BI) present in the brush border membrane and responsible for sterol uptake. Binding of apolipoprotein A-I to SR-BI of rabbit brush border membrane is cooperative, characterized by a dissociation constant K(d) = 0.45 microM and a Hill coefficient of n = 2.8. The cooperativity of the interaction is due to binding of the inhibitor molecule to a dimeric or oligomeric form of SR-BI held together by disulfide bridges. Consistent with the competitive nature of the inhibition, the K(d) value agrees within experimental error with the IC(50) value of inhibition and with the inhibition constant K(I). After proteinase K treatment of brush border membrane vesicles, the affinity of the interaction of apolipoprotein A-I expressed as K(d) is reduced by a factor of 20, and the cooperativity is lost. The interaction of proteinase K-treated brush border membrane vesicles with apolipoprotein A-I is nonspecific partitioning of the apolipoprotein into the lipid bilayer of brush border membrane vesicles.

Amino Acid Sequence↗
PubMed2000

[Tubercular psoas abscess].

HISTORY AND ADMISSION FINDINGS: A 43-year-old patient suffered from fatigue, nocturnal sweating, rigor and a weight loss of 5 kg over the last 4 weeks. A year before he had been anaemic and he was treated with omeprazole and iron. On admission physical examination was unremarkable, except for the known swelling in the right flank. His general condition was good. INVESTIGATIONS: Computed tomography showed an extensive abscess of the right psoas muscle with deplacement of the right ureter, causing hydronephrosis, and infiltration of the abdominal wall. Cytological and bacteriological tests of the abscess aspirate indicated tuberculosis. TREATMENT AND COURSE: The abscess markedly shrank within 2 months of starting antituberculosis treatment, which was continued for another 4 months. A catheter, which had been inserted into the right ureter to relieve hydronephrosis, was remowed without further complications. CONCLUSION: Because of an increase in the number of immigrants from countries with a high incidence of tuberculosis or HIV infection, extrapulmonary tuberculosis should be included in the differential diagnosis, such as in this case of a psoas muscle abscess. Despite the size of the abscess surgical intervention is rarely required because it will heal under appropriate antituberculosis treatment.

Adult↗
PubMed2000

Characterization of an integral protein of the brush border membrane mediating the transport of divalent metal ions.

The transport of Fe(2+) and other divalent transition metal ions across the intestinal brush border membrane (BBM) was investigated using brush border membrane vesicles (BBMVs) as a model. This transport is an energy-independent, protein-mediated process. The divalent metal ion transporter of the BBM is a spanning protein, very likely a protein channel, that senses the phase transition of the BBM, as indicated by a break in the Arrhenius plot. The transporter has a broad substrate range that includes Mn(2+), Fe(2+), Co(2+), Ni(2+), Cu(2+), and Zn(2+). Under physiological conditions the transport of divalent metal ions is proton-coupled, leading to the acidification of the internal cavity of BBMVs. The divalent metal ion transporter can be solubilized in excess detergent (30 mM diheptanoylphosphatidylcholine or 1% Triton X-100) and reconstituted into an artificial membrane system by detergent removal. The reconstituted membrane system showed metal ion transport characteristics similar to those of the original BBMVs. The properties of the protein described here closely resemble those of the proton-coupled divalent cation transporter (DCT1, Nramp2) described by, Nature. 388:482-488). We may conclude that a protein of the Nramp family is present in the BBM, facilitating the transport of Fe(2+) and other divalent transition metal ions.

Animals↗
PubMed1999

[Adult progeria (Werner's syndrome)].

HISTORY: A 48-year-old man was referred with progressive claudication and nocturnal pain at rest in the right foot. During the last few years exercise-induced pain, ulcerations and necroses had developed in both legs without any evidence of relevant macroangiopathies. The patient showed marked morphological changes. He had bilateral cataracts since aged 35 years. At 40 years he had undergone a transurethral resection of a bladder carcinoma. One of his brothers showed similar morphological changes, but they were absent in his parents and three siblings. INVESTIGATIONS: Radiology of the right foot revealed extensive para-osseous soft-tissue calcifications. Direct right femoral angiography demonstrated distal occlusions of the anterior and posterior tibial arteries as well as subtotal occlusion of the fibular artery. Routine laboratory tests were normal, as were all measured antibody titres. TREATMENT AND COURSE: The peripheral vascular disease, stage IV, of the right leg were presumably caused by adult progeria (Werner's syndrome). Percutaneous transluminal angioplasty (PTAP) of the distal fibular and, later, of the posterior tibial artery was performed, and prostacyclins, antibiotics and platelet-aggregation inhibitors were administered. Although the PTAP was technically successful, the state of the right foot remained critical, due to the existing microangiopathy and the impaired proliferation and healing capacity of the tissues as part of the adult progeria. CONCLUSIONS: The diagnosis of adult progeria is usually made because of the patients' characteristic morphology and typical concomitant diseases. The average age of patients at diagnosis is 37 years. The syndrome is caused by a helicase defect. This enzyme group unwinds double-helix RNA and DNA. Because the syndrome is rare and gene analysis is complex, it is unlikely that a commercial screening test will become available.

Angiography↗
PubMed1998

Identification of a receptor mediating absorption of dietary cholesterol in the intestine.

Here we show that scavenger receptor class B type I is present in the small-intestine brush border membrane where it facilitates the uptake of dietary cholesterol from either bile salt micelles or phospholipid vesicles. This receptor can also function as a port for several additional classes of lipids, including cholesteryl esters, triacylglycerols, and phospholipids. It is the first receptor demonstrated to be involved in the absorption of dietary lipids in the intestine. In liver and steroidogenic tissues, the physiological ligand of this receptor is high-density lipoprotein. We show that binding of high-density lipoprotein and apolipoprotein A-I to the brush border membrane-resident receptor inhibits uptake of cholesterol (sterol) into the brush border membrane from lipid donor particles. This finding lends further support to the conclusion that scavenger receptor BI catalyzes intestinal cholesterol uptake. Our findings suggest new therapeutic approaches for limiting the absorption of dietary cholesterol and reducing hypercholesterolemia and the risk of atherosclerosis.

Amino Acid Sequence↗
PubMed1998

[Abdominal pain and flatulence. Intestinal and pulmonary tuberculosis. IgG kappa paraproteinemia].

A 21-year-old woman suffered from cramplike abdominal pain, flatulence and occasional diarrhoea for about one year. Over the past few weeks the abdominal symptoms exacerbated, besides productive cough and subfebrile temperatures developed. Coloscopy revealed two isolated, short ulcers in the proximal colon. The histological examination of the biopsies taken from these ulcers indicated granulomatous inflammation. Moreover small acinar infiltrates in both pulmonary apices were visualized. The findings in this patient originating from Turkey were suspicious for intestinal and pulmonary tuberculosis. Though sensitive methods were used (Ziehl-Neelson stam, amplified M. tuberculosis direct test, a polymerase chain reaction) direct tests allowed no detection of mycobacteria. Antituberculous therapy was initiated on a probatory basis to which the patient responded well and promptly. The diagnosis was confirmed by culture results: M. tuberculosis was grown from colonic biopsies, morning sputa and bronchioalveolar lavage.

Abdominal Pain↗
PubMed1998

[Ascites. Tuberculous peritonitis].

Because of deteriorating general health, weight loss of 5 kg and leftsided epigastric pain a 44 year old innkeeper was evaluated unsuccessfully for 1 month. Thereafter a protein- and lymphocyte-rich ascites developed. CT-scans revealed a thickened visceral peritoneum and multiple, marginally increased retroperitoneal lymph nodes. The history of the patient originating from former Jugoslavia was suspicious for inadequately treated tuberculous pericarditis. Hence this diagnosis tuberculous peritonitis became probable but for practical reasons could not be proven neither by biopsy nor by culture. Under probatory antituberculous treatment the patient's general condition improved rapidly, the ascites disappeared and initially elevated parameters for infection normalized.

Adult↗