Irritable bowel syndrome: a paroxysmal motor disorder.
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Biomedical subjects
Publications and source records attributed to D Kumar.
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Five families with at least three generations of members affected with autosomal dominant spinocerebellar ataxia (SCA) were studied. HLA typing was carried out and the coded HLA haplotypes were used to calculate the likelihood of linkage using the LIPED computer program. The combined lod scores from these five families does not, by itself, support linkage. Negative lod scores were observed in all five families, however, when pooled with the previously published data significant lod scores were obtained [Z = 3.343 (theta = 0.20) and +4.286 (theta = 0.30)]. In four families, affected members had clinical features consistent with autosomal dominant cerebellar ataxia (ADCA) type I while in the fifth, ADCA type II was suggested. Clinical heterogeneity within ADCA raises doubts about the significance of summed lod scores. In view of the previous reports probably two genetically heterogeneous types of ADCA exist -- HLA linked and nonlinked.
Upper small bowel motility was continuously recorded for 36-48 h in 37 healthy ambulant volunteers using twin pressure-sensitive radiotelemetric capsules tethered in the small bowel. Each study began with a 24-h period that was free of applied stress. The second 24-h period included 7 h of intermittent psychological stress during the day and brief episodes of acute stress during the following night, except in the members of a control group to whom no stress was applied. Stress responses were assessed from cardiovascular status and self-reported visual analogue scales. Applied stress during the second day significantly inhibited the incidence of fasting migrating motor complexes compared with the first day; when no stress was applied there was no reduction in migrating motor complexes. Nocturnal stress was less effective in the inhibition of migrating motor complexes. All the stressors induced positive cardiovascular and subjective stress responses. The stress-induced inhibition of migrating motor complexes was reversed by oral metoclopramide; however, the drug did not reverse the cardiovascular or subjective response to stress. In contrast, domperidone did not inhibit the gastrointestinal effects of stress. Neither drug appeared to influence small bowel motility under normal conditions.
Using twin intraluminal pressure-sensitive radiotelemetric capsules for prolonged monitoring of proximal small bowel motility in healthy volunteers, we observed a significant (p less than 0.001) variation between daytime (6.44 +/- 0.74 cm/min, mean +/- SD) and nocturnal (2.90 +/- 0.35 cm/min) propagation velocities of the migrating motor complex. An identical variation in propagation velocity was observed in patients suffering from the irritable bowel syndrome. These data suggested a circadian variation, but did not exclude alternative hypotheses. Data were therefore compiled from healthy sheep and pigs supplied with ad libitum rations each morning and adapted to a 12 h light, 12 h dark schedule. Recording from implanted electrodes showed a significant (p less than 0.01) reduction in migrating motor complex velocity from 27.8 +/- 5.1 cm/min by day to 16.7 +/- 3.1 cm/min at night in sheep, and from 20.6 +/- 2.4 to 13.4 +/- 1.9 cm/min in pigs. The nocturnal reduction remained when the animals were fed in the evening. These observations suggest a circadian variation in mammalian migrating motor complex propagation velocity that is not merely a function of variation in intraluminal content.
The effects of fentanyl and alfentanil on intra-ocular pressure during anaesthesia were investigated in 50 consecutive patients in a double-blind controlled trial. Both drugs produced a significant reduction in intraocular pressure (p less than 0.01). Alfentanil produced significantly greater reduction (48.5 percent) than fentanyl (28.6 percent) (p less than 0.01). A small but statistically significant reduction in arterial pressure (15 percent approximately) and heart rate (18 percent approximately), were observed with both agents, but no significant differences between them were noted. It is suggested that alfentanil may be a suitable alternative to fentanyl in ophthalmic anaesthesia.
Coronal craniosynostosis, hypertelorism, telecanthus, broad grooved nasal tip, dental anomalies, mild syndactyly and broad thumbs, consistent with craniofrontonasal dysplasia are described in a family of four affected females over three generations. Documentation of the family is of interest because of variable clinical features and an excess of affected females. The excess of females observed in this condition is as yet unexplained, but cannot be referred simply to X-linked dominance with lethality in the male. Autosomal dominance with less frequent and less severe expression in the male is more tenable. Chromosome analysis on two affected family members revealed a fragile site at 12q13, which was also found in a phenotypically normal family member. A third affected individual did not exhibit this fragile site. Thus it appears that there is a heritable fragile 12q13 site segregating in this family separately from the gene for craniofrontonasal dysplasia.
A family is reported with nail dysplasia and/or absent nails, long and broad finger-like thumbs, camptodactyly and absent fingers. Radiological studies revealed hypoplasia of metacarpals, metatarsals and distal phalanges. Two affected individuals have absent metacarpals and phalanges. The clinical and radiological features may constitute a distinct syndrome of autosomal dominant onychodystrophy and anonychia with Julia Bell brachydactyly type B.
Diethyxime, a non-quaternary cholinesterase reactivator was evaluated for its antidotal efficacy against organophosphorus intoxication in rats using the protection index, cholinesterase reactivation and neuromuscular function as the experimental protocol. Diethyxime along with atropine produced a marked antidotal effect against dimethyl dichlorovinyl phosphate (DDVP) poisoning on all the parameters studied. The action of diethyxime was mainly peripheral. The protective efficacy against diisopropyl fluorophosphate (DFP) poisoning was not observed with this reactivator.
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Preschool children of two villages of Kharar Taluka, Ropar district, Punjab (India) were screened for the prevalence of giardiasis. Cysts of Giardia lamblia were found in 35.1% of the stool samples and other parasites were rarely seen. The incidence of diarrhoea in association with G. lamblia positivity was 16.5% in subjects whose stool examination was positive on one or more than one occasion. No difference in the incidence of giardiasis could be seen in well nourished and undernourished children living in these endemic areas.
Upper small bowel motility was recorded for more than 30 h in each of 22 patients with the irritable bowel syndrome (IBS) and in two control groups, one consisting of 10 healthy volunteers and the other of 5 patients with inflammatory bowel disease. When subjects underwent a long period of intermittent mental stress, one or more of three motor abnormalities occurred in 19 patients; and only one abnormality was seen in 1 control (p less than 0.0001). These abnormalities were the total abolition of migrating motor complexes under stress, and abnormal irregular contractile activity, which was either spontaneous or evoked by stress. Sometimes the irregular contractile activity coincided with the occurrence of typical IBS symptoms. Males predominated (p = 0.05) among those with spontaneous irregular motor activity, who tended to have more symptoms (p = 0.014) than did those affected only by stress. The data suggest that irritable bowel syndrome is a paroxysmal motor disorder which may be detected in the small bowel and which may be either spontaneous or evoked.
Five patients with macrodactyly are described. The foot was affected in 3 of them and the hand in 2. Two patients were operated on and the histological features are described. The literature is fully reviewed and the aetiology is discussed.
During the last four years, we treated 41 infants with congenital diaphragmatic hernia with an overall survival rate of 68%. All infants presenting after the first day of life survived and the survival rate of neonates treated during the first day of life was 63%. The infants could be classified into two groups. In the first group infants did not have severe respiratory distress and had small diaphragmatic defects which were easily repaired with a survival rate of 95%. Neonates in the second group had severe respiratory distress or large lesions which were difficult to repair and a survival rate of only 30%.
Metabolically active heterocysts isolated from wild-type Anabaena sp. strain CA showed high rates of light-dependent acetylene reduction and hydrogen evolution. These rates were similar to those previously reported in heterocysts isolated from the mutant Anabaena sp. strain CA-V possessing fragile vegetative cell walls. Hydrogen production was observed with isolated heterocysts. The ratio of C2H4 to H2 produced ranged from 0.9 to 1.2, and H2 production exhibited unique biphasic kinetics consisting of a 1 to 2-min burst of hydrogen evolution followed by a lower, steady-state rate of hydrogen production. This burst was found to be dependent upon the length of the dark period immediately preceding illumination and may be related to dark-to-light ATP transients. The presence of 100 nM NiCl2 in the growth medium exerted an effect on both acetylene reduction and hydrogen evolution in the isolated heterocysts from strain CA. H2-stimulated acetylene reduction was increased from 2.0 to 3.2 mumol of C2H4 per mg (dry weight) per h, and net hydrogen production was abolished. A phenotypic Hup- mutant (N9AR) of Anabaena sp. strain CA was isolated which did not respond to nickel. In isolated heterocysts from N9AR, ethylene production rates were the same under both 10% C2H2-90% Ar and 10% C2H2-90% H2 with or without added nickel, and net hydrogen evolution was not affected by the presence of 100 nM Ni2+. Isolated heterocysts from strain CA were shown to have a persistent oxygen uptake of 0.7 mumol of O2 per mg (dry weight) per h, 35% of the rate of whole filaments, at air saturating O2 levels, indicating that O2 impermeability is not a requirement for active heterocysts.
A female child with mental retardation and dysmorphic features was found to have a duplication deficiency of chromosome 8: rec(8)dup q,inv(8)(p23q24), a recombinant product derived from a familial pericentric inversion, inv(8)(p23q24)mat. Clinical features of this previously undescribed inversion product are compared with other reported cases of partial trisomy for the distal long arm of chromosome 8, since this segment is thought to be primarily responsible for the phenotypic features of the trisomy 8 syndrome.
A family is reported in which several members have the Cornelia de Lange syndrome and other members show facial dysmorphism and other features reminiscent of this syndrome. The segregation pattern is consistent with the view that the dysmorphic features (variable) are the manifestation of a single gene in heterozygous form. Chromosome abnormality was not found.
Mitochondrial and cytosolic malic enzymes were assayed radiochemically in fibroblasts from six patients suffering from Friedreich's ataxia in order to verify earlier reports of abnormalities in these enzymes. No abnormalities could be detected in the activities of either enzyme. On cellulose acetate electrophoresis a band of enzyme activity corresponding to the mitochondrial isoenzyme was detectable contrary to earlier reports. Possible explanations for the disparity of results between different laboratories are discussed.
During preoperative staging the authors performed upper abdominal computed tomographic (CT) scanning in 38 patients with non-small cell lung carcinoma. Five of the 38 patients had occult adrenal metastases based on CT images. Two of these five patients, who would otherwise have been surgical candidates for definitive thoracotomy, underwent percutaneous fine-needle aspiration cytology of the suspected adrenal metastases. Cytology results in both cases were positive for metastatic carcinoma, thereby precluding thoracotomy. Upper abdominal CT scanning may optimize preoperative staging of selected non-small cell lung cancer patients.