Prevalence of giardiasis

The prevalence of giardiasis was assessed in 1000 consecutive adult patients undergoing upper-gastrointestinal endoscopy for the usually accepted indicatins. Ptients with upper-gastrointestinal bleeding were excluded. The diagnosis was established by examination of duodenal aspirate and duodenal mucosal impression smears. In 21 patients (2.1%) trophozoites were detected both in the duodenal juice and stained mucosal impression smears. All were treated with metronidazole or tinidazole. In 14 of 16 patients who had subsequent duodenal intubation, eradication of the parasite was onformed. In five patients previously existent abdominal pain disappeared with clearing of the parasite, and no other cause for their abdominal pain was discovered. A search for Giardia lamblia infestation may be a worthwhile additional procedure at the time of endoscopy when no other cause for abdominal pain is found.     

Effect of hepatobiliary disease, chronic hepatitis C and hepatitis B virus infections and interferon-alpha on porphyrin profiles in plasma, urine and faeces

BACKGROUND: Documentation of the profiles of porphyrins in hepatobiliary disease is limited. Strong associations of hepatitis B and C virus infections with porphyria cutanea tarda have suggested causal relationships. This study aimed to determine the nature of porphyrin abnormalities in hepatobiliary disease and the effect of interferon-alpha on porphyrin profiles. METHODS: Total porphyrins were measured in the plasma, urine and faeces of 83 patients with hepatobiliary disease (37 hepatitis C, 20 hepatitis B, 26 other causes) and 12 clinical controls, and porphyrin profiles were determined by high-performance liquid chromatography. RESULTS: Porphyrins were elevated in the plasma of 11 and urine of 23 patients with hepatobiliary disease, as a result of elevated coproporphyrin I. This was reflected in increased coproporphyrin I:III ratios. Abnormal total porphyrin levels had a significant negative correlation with plasma albumin, and a positive correlation with bilirubin and alkaline phosphatase, but not with aminotransferases. Total urinary porphyrins were elevated in three control patients, but coproporphyrin I:III ratios were normal. Although not seen in plasma or urine, porphyrins that are specific for porphyria cutanea tarda were found in the faeces of six patients, but this occurred with similar frequency in hepatitis B or C infection (four of 50) as in the clinical controls (two of 12). Interferon-alpha had no effect during or after therapy in six patients with hepatitis C. CONCLUSIONS: Reduced biliary excretion of coproporphyrin I occurs in more severe cholestasis and/or hepatic dysfunction. A causal relationship between viral liver disease and porphyria cutanea tarda which is unlikely to be precipitated by interferon-alpha, is not supported.     

Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria

We describe five new mutations in the uroporphyrinogen decarboxylase (UROD) gene. All mutations were observed in conjunction with decreased erythrocyte UROD and clinical familial porphyria cutanea tarda (fPCT), (four families) or hepatoerythropoietic porphyria (HEP), (one family). The fPCT mutations included three point mutations that resulted in amino acid substitutions: a lysine to glutamine at amino acid position 253 (exon 7); a glycine to arginine at position 318 (exon 10); an isoleucine to threonine at position 334 (exon 10). The lysine to glutamine at amino acid position 253 was found in conjunction with a single C nucleotide deletion in exon 8 on the same allele of the UROD gene in the same family. This deletion resulted in a shift in the reading frame and the introduction of a premature stop codon 8 amino acids downstream. In the fourth family, a 31-bp deletion (nucleotides 828-858: exon 8) of the coding region, resulted in a frameshift and the introduction of a stop codon 19 amino acids downstream. A point mutation was observed in an individual diagnosed with HEP, resulting in an alanine to glycine change at amino acid position 80 and was present on both alleles. All mutations were confirmed in at least one other family member. The impact of these mutations on the function of the UROD protein was examined using in vitro protein expression and with activity assessed using pentacarboxylic acid porphyrinogen I as a substrate for UROD. Although three mutations reduced UROD activity to < 15% of normal, one resulted in a UROD protein with 50% functional activity and the other had near normal activity. These results indicate that many different genetic lesions of the UROD gene are associated with fPCT.     

Absence of localized grey matter volume changes in the motor cortex following spinal cord injury

The consequences of spinal cord injury (SCI) have considerable effects on motor function, typically resulting in functional impairment. Pathological changes have been studied at the site of trauma, rostrocaudally within the cord, and in the periphery. Few studies, however, have investigated the consequences of SCI at the cortical level. Magnetic resonance imaging (MRI) was used to explore the morphological changes in the grey and white matter within the primary motor (M1) cortex of individuals with cervical SCI. The "precentral knob," a landmark of M1 cortex dedicated to hand function, was selected for regionally specific measurements of change. Thirty-one hemispheres of SCI subjects and 28 hemispheres of control subjects were compared using a manual measurement after the images were segmented into grey matter, white matter, and cerebral spinal fluid (CSF). No significant differences in grey matter area measured at the precentral knob were found with the manual approach. An automated voxel-based morphometric analysis was also performed and demonstrated no significant differences in grey or white matter volume within an M1 region of interest. These data suggest that there is no gross anatomical change within M1 following cervical SCI. Our previously reported findings of reorganization of cortical motor output maps following SCI therefore likely result from changes in functional organization rather than anatomical changes.     

The Rectal Administration of Lactulose

Summary: A lactulose colonic washout (pH 4.5) was administered to six male patients with portal systemic encephalopathy. Estimation of blood ammonia levels and electroencephalography were performed before and after each treatment. Five patients recorded a significant fall in blood ammonia level as a result of lactulose therapy ( P < 025). In the sixth subject, an enema with buffered physiological saline, pH 4.5, induced a fall in ammonia which was not increased by subsequent lactulose solution. Improvement in the electroencephalogram was recorded in all periods where a lactulose colonic washout produced a fall in blood ammonia level.     

Anomalous thyrotropin values

We studied problems associated with use of an "ultrasensitive" thyrotropin (TSH, thyroid-stimulating hormone) assay for diagnosis of hyperthyroidism. Of 955 TSH assays performed in our laboratory during four months, 135 gave TSH values less than 0.1 milli-int. unit/L. We noted low TSH values at all concentrations of free thyroxin (FT4) in plasma. Nine of 13 patients with a normal or low FT4 and no obvious endocrine explanation for a low TSH were elderly and ill. This raises questions about the pituitary function in such patients. Twenty-seven patients who had high FT4 and non-suppressed TSH were clinically euthyroid, 20 of them being on treatment with thyroxin or amiodarone. Low TSH values in a hospital environment do not always indicate hyperthyroidism, although a normal value for TSH probably indicates euthyroidism.