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1.  Distinct outcomes of chloride diarrhoea in two siblings with identical genetic background of the disease: implications for early diagnosis and treatment 
Gut  2001;48(5):724-727.
BACKGROUND—Congenital chloride diarrhoea (CLD, OMIM 214700) is a serious inherited defect of intestinal electrolyte absorption transmitted in an autosomal recessive fashion. The major clinical manifestation is diarrhoea with high chloride content which can be balanced by substitution. The molecular pathology involves an epithelial Cl /HCO3 exchanger protein, encoded by the solute carrier family 26, member 3 gene (SLC26A3), previously known as CLD or DRA (downregulated in adenomas). To date, almost 30 different mutations in the SLC26A3 gene have been identified throughout the world. No clear genotype-phenotype correlation has been established.
PATIENTS/METHODS—Two siblings presenting with CLD were studied for disease history, supplementation, or other treatments, and for mutations in the SLC26A3 gene.
RESULTS—Mutation analysis revealed a homozygous I544N mutation in both patients. However, despite the uniform genetic background of CLD in this family, the clinical picture and outcome of the disease were remarkably different between siblings. The older sibling had a late diagnosis and chronic course of the disease whereas the younger one, who was diagnosed soon after birth and immediately received supplementation therapy, grows and develops normally.
CONCLUSION—Time of diagnosis, substitution therapy, compliance, and compensatory mechanisms are more important modulators of the clinical picture of CLD than the type of mutation in the SLC26A3 gene.

Keywords: chloride diarrhoea; SLC26A3 gene;
PMCID: PMC1728262  PMID: 11302976
4.  Use of a clinical sepsis score for predicting bacteremia in neonatal dairy calves on a calf rearing farm. 
The Canadian Veterinary Journal  1997;38(2):101-104.
In human, equine, and bovine neonates, early diagnosis of bacteremia remains a challenge for the internist. The objective of this study was to develop a predictive model for risk of bacteremia, based on a clinical evaluation system called the clinical sepsis score. Blood from 90 ill calves, 1- to 14-days-old from a calf-raising farm in the San Joaquin Valley of California was cultured. The calves were also scored according to a clinical score for hydration status, fecal appearance, general attitude, appearance of scleral vessels, and umbilical abnormality. Age, rectal temperature, heart rate, respiratory rate, and presence or absence of a focal site of infection were recorded. Prevalence of bacteremia was 31% (28/90). A logistic regression model indicated that high clinical score, presence of a focal infection, and increased age were associated with an increased risk of bacteremia in ill calves (P < 0.06). Calves for which the model predicted bacteremia with a probability > or = 40.8% were considered bacteremic, yielding acceptable sensitivity (75%) and specificity (71%) estimates. The predictive model was validated through a 2nd sampling of 100 calves (79 ill calves and 21 controls), of which 17 calves were bacteremic. The classification was 75% correct using the model, with an estimated sensitivity of 76% and specificity of 75%. Overall, results indicated that the model could be a useful tool for predicting bacteremia in ill calves in a clinical setting.
PMCID: PMC1576546  PMID: 9028593
5.  Bacteriological culture of blood from critically ill neonatal calves. 
The Canadian Veterinary Journal  1997;38(2):95-100.
The objectives of this study were to estimate the prevalence of bacteremia in critically ill, neonatal calves with severe diarrhea or depression, and to describe the variety of bacteria involved. Two studies were conducted in the summers of 1991 and 1993 involving 190 neonatal calves, 1-day to 19-days-old. Bacteremia was detected by blood culture in 31% (28/90) of calves in study 1, and in 24% (19/79) of ill calves and 0% (0/21) of control calves in study 2. Bacteria cultured from blood included Escherichia coli (51% of all isolates), other gram-negative enterics (25.5%), gram-negative anaerobes (5.9%), gram-positive cocci (11.8%), and gram-positive rods (5.9%). Among clinically ill calves, the average age was significantly lower in the blood culture-negative group (5.5 d) than in the blood culture-positive group (7.5 d) (P = 0.004). Mean serum IgG concentration was significantly (P = 0.0001) lower in blood culture-positive calves (1.146 g/L) than in blood culture-negative calves (3.077 g/L). The mortality rate was significantly (P < 0.0001) higher in the blood culture-positive group (57.4%) than in the blood culture-negative group (15.1%). Bacteremia appeared to be a frequent entity in this particular rearing situation. Early recognition of the problem, as well as appropriate treatment, may be beneficial in increasing survival rates. Results also support the need to address the failure of passive transfer of maternal antibodies to prevent bacteremia in calves.
PMCID: PMC1576528  PMID: 9028592
6.  Immunization of rats with synthetic peptide constructs from the glucan-binding or catalytic region of mutans streptococcal glucosyltransferase protects against dental caries. 
Infection and Immunity  1995;63(8):3088-3093.
Previously, we have described peptide constructs from two regions of glucosyltransferase (GTF) of mutans streptococci. A putative catalytic site in the amino-terminal half of the molecule and a repeated glucan-binding site in the carboxyl-terminal half of GTF were the regions upon which sequences were based. The present study explored the effects of immunization with these peptide constructs (called CAT or GLU) and with streptococcal GTFs from Streptococcus sobrinus and S. mutans on immunological, microbiological, and disease parameters. Groups of immunized Sprague-Dawley rats were infected with either 10(8) S. sobrinus 6715 or 10(8) S. mutans SJ32 organisms. Serum immunoglobulin G antibody levels, determined by enzyme-linked immunosorbent assay, to the respective peptide constructs and to the appropriate streptococcal GTF were significantly increased (after immunization) prior to infection and at the end of the experiment. Also, serum antibody from CAT-, GLU-, and S. sobrinus GTF-immunized rats inhibited S. sobrinus GTF-mediated insoluble glucan synthesis (all) and S. mutans GTF-mediated soluble glucan synthesis (all except anti-GLU) from sucrose. Immunization with the CAT or GLU peptide construct resulted in significantly reduced smooth surface and sulcal caries after infection with S. sobrinus. Sulcal dental caries after infection with S. mutans SJ32 were also significantly reduced in CAT- and GLU-immunized rats. Thus, immunization with peptides whose sequences are based on putative functional domains of mutans streptococcal GTF are protective toward a cariogenic S. sobrinus or S. mutans infection.
PMCID: PMC173421  PMID: 7622235
7.  Antigenicity and immunogenicity of a synthetic peptide derived from a glucan-binding domain of mutans streptococcal glucosyltransferase. 
Infection and Immunity  1993;61(7):2899-2905.
The immunogenicity and antigenicity of a multiply antigenic peptide construct containing four copies of the synthetic peptide TGAQTIKGQKLYFKANGQQVKG were measured in rodents and humans, respectively. The composition of this peptide construct (termed GLU) was derived from a major repeating sequence in the C-terminal region of mutans streptococcal glucosyltransferases that synthesize water-insoluble glucan (GTF-I). The GLU peptide elicited high levels of serum immunoglobulin G antibody to GLU after subcutaneous injection into Sprague-Dawley rats. These antisera also reacted with intact GTF isozymes from Streptococcus sobrinus and Streptococcus mutans (by enzyme-linked immunosorbent assay [ELISA] and Western blot [immunoblot] analyses) and with an 87-kDa glucan-binding protein from S. sobrinus (by Western blot). The synthesis of filter-retained glucan by GTF-Sd of S. sobrinus could be inhibited (30%) by preincubation with anti-GLU rat serum. Splenic and lymph node lymphocytes from rats injected once with S. sobrinus GTF isozymes demonstrated significant proliferation after 5 days of culture with GLU. The GLU peptide reacted with 4 of 29 human parotid saliva samples and 5 of 29 human serum samples (by ELISA). These results suggest that the GLU peptide contains B- and T-cell epitopes that are similar to those of intact mutans streptococcal GTFs and possibly certain other glucan-binding proteins as well. Furthermore, since antibody to this epitope(s) appears to inhibit GTF function, sequences within this peptide construct may have value for inclusion in a synthetic dental caries vaccine.
PMCID: PMC280937  PMID: 8514393
8.  Factors associated with in utero or periparturient transmission of bovine leukemia virus in calves on a California dairy. 
A three-year prospective study involving 143 calves born from infected cows was undertaken on a California dairy to evaluate possible factors of the dam associated with bovine leukemia virus infection in utero or during the periparturient period. In utero or periparturient infection occurred at a rate of 4.8% and was more likely in calves born to cows with an average peripheral blood lymphocyte count during pregnancy greater than 12,000 cells/microL (p = 0.043) or in calves born to cows that developed malignant lymphoma (p = 0.00004), but not in calves born to cows with p-24 antibodies (p = 0.675).
PMCID: PMC1263462  PMID: 1653640
9.  The effect of pre-enrichment on recovery of Streptococcus agalactiae, Staphylococcus aureus and mycoplasma from bovine milk. 
Epidemiology and Infection  1989;103(3):465-474.
The study was conducted to determine whether pre-enrichment would increase sensitivity of detecting Streptococcus (Str.) agalactiae, Staphylococcus (S.) aureus, and mycoplasma in bovine milk. Two procedures were followed, one involving direct inoculation of milk on bovine blood agar, and the other involving preenrichment in broth followed by inoculation on agar. Logistic regression was used to predict the probability of isolation as a function of culture procedure and two additional covariates, the California Mastitis Test (CMT) score of the milk and the type of sample (indicating sample storage temperature and herd mastitis status). A total of 13778 milk samples was cultured for each of the three bacteria. By using results of both direct inoculation and pre-enrichment, the probability of isolation compared to use of direct inoculation only and adjusted for effects of other variables was increased 3.6-fold for Str. agalactiae, 1.6-fold for S. aureus and 1.7-fold for mycoplasma. The probability of isolation for all three bacteria increased as the CMT score increased. For Str. agalactiae, there was a statistical interaction predicting that enrichment improved the odds of isolation more from milk with high CMT scores than from milk with low scores. Results indicate that pre-enrichment can substantially increase the sensitivity of bacteriological screening of dairy cows for mastitis caused by Str. agalactiae, S. aureus, and mycoplasma.
PMCID: PMC2249543  PMID: 2691266
10.  Genetic control of serum neutralizing-antibody response to rabies vaccination and survival after a rabies challenge infection in mice. 
Journal of Virology  1986;59(1):98-102.
Quantitative differences in serum neutralizing-antibody (SNAb) responses to rabies vaccination and survival after a rabies challenge infection between two inbred mice strains, C3H/J and C57BL/6J, were shown to be under genetic control. A 99% confidence limit calculated from the SNAb response titers of 14 C57BL/6J mice resulted in an upper limit for the SNAb response titer of C57BL/6J mice at 50.63. A SNAb titer less than or equal to 50.63 in response to rabies vaccination was assigned the phenotype of hyporesponder, and a SNAb titer greater than 50.63 in response to rabies vaccination was assigned the phenotype of hyperresponder in this study. The hyper-SNAb response to rabies vaccination and the higher frequency of survival after rabies challenge infection behave as Mendelian dominant alleles in F1 hybrids (C3H/J X C57BL/6J) and backcross (BC) (F1 [C3H/J X C57BL/6J] X C57BL/6J) progeny. Both a relatively hyper-SNAb response and a higher frequency of vaccine-inducible survival phenotypes occur in C3H/J mice. On the other hand, both the relatively hypo-SNAb response and a lower frequency of vaccine-inducible survival phenotypes behave as Mendelian recessive alleles and occur in C57BL/6J mice. C3H/J mice are H-2 Kk, and C57BL/6J mice are H-2 Kb. All three phenotypic traits (H-2 type, SNAb response, and survival after rabies challenge infection) segregate as independent (unlinked) monogenic traits in BC progeny (F1 [C3H/J X C57BL/6J] X C57BL/6J). The genetically controlled survival trait is inducible by rabies vaccination, but SNAb response is not a parameter that measures successful vaccine induction of preexposure protection from a rabies challenge infection in the BC progeny. The essential role of vaccination in developing preexposure protection in genetically responsive mice is confirmed, but indicates that in vitro measurements other than SNAb titers need to be developed to identify mice that have failed to achieve preexposure protection by rabies vaccination. This study confirms Lodmell's findings (D. L. Lodmell and B. Chesebro, J. Virol. 50:359-362, 1984; D. L. Lodmell, J. Exp. Med. 157:451-460, 1983) that susceptibility to rabies infection is genetically controlled in some mice strains. Additionally, this study indicates that conventional rabies vaccination even with more potent vaccines may not induce protection from infection in some genetically susceptible individuals.
PMCID: PMC253043  PMID: 3086569
11.  Interstitial nephritis of acute onset. 
Archives of Disease in Childhood  1985;60(8):752-755.
Interstitial nephritis was diagnosed at renal biopsy in 10 previously healthy children. All had identical clinical symptoms: anaemia, raised sedimentation rate, low glomerular filtration rate, protein and leucocytes in the urine, but no bacteria; nine also had glycosuria. Six of the children had a history of recent ingestion of drugs or a serologically proved infection, or both. One child later developed uveitis. After the acute phase all made at least partial recovery, but after a mean follow up of two years and eight months only four were without any signs of disease, three had equivocal findings, two definite renal disease, and one renal failure. Interstitial nephritis, therefore, seems to be a clinical entity often occurring without known cause or triggering factor, its prognosis is variable, and some patients may develop chronic renal failure.
PMCID: PMC1777412  PMID: 4037860
13.  Interaction of nonhuman primate peripheral blood leukocytes and Coccidioides immitis in vitro. 
Infection and Immunity  1980;29(3):1200-1201.
The leukocytes from rhesus macaques could not kill either endospores or arthrospores of Coccidioides immitis even in the presence of immune serum and complement, although these leukocytes were able to kill Candida and Listeria organisms.
PMCID: PMC551260  PMID: 6776061
14.  In vitro response of alveolar macrophages to infection with Coccidioides immitis. 
Infection and Immunity  1980;28(2):594-600.
Alveolar macrophages obtained from rhesus macaques (Macaca mulatta) by bronchial lavage were observed to phagocytize endospores and arthrospores of Coccidioides immitis. When the macrophages were subsequently maintained in vitro, the phagocytized spores developed into spherules. There was no significant reduction in the viability of C. immitis after phagocytosis by macrophages from normal macaques, nor was killing induced by the addition of immune serum, complement, or lung lining material obtained from the bronchial lavage fluid. The inability of the macrophages to kill C. immitis may in part be explained by the observation that C. immitis appeared to inhibit fusion of the phagosomes containing the fungal spores with the lysosomes within the macrophages.
PMCID: PMC550975  PMID: 6772563
15.  Congenital chloride diarrhoea. Clinical analysis of 21 Finnish patients. 
Archives of Disease in Childhood  1977;52(4):255-267.
Clinical findings in 21 Finnish children with congenital chloride diarrhoea are reported. Inheritance of this disease by the autosomal recessive mode is established. All children were born 1-8 weeks prematurely. Hydramnios was present in every case and no meconium was observed; intrauterine onset of diarrhoea is thus apparent. In most cases the diarrhoea or passing of large volumes of "urine" was noted on the first day of life and the abdomen was usually large and distended. The neonatla weight loss was abnormally large, and was associated with hypochloraemia and hyponatraemia. Some infants survived the neonatal period without adequate therapy. They presented later with failure to thrive and usually had hypochloraemia, hypokalaemia, and metabolic alkalosis associated with hyperaldosteronism. However, these features may be absent and the diagnosis is based on a history of hydramnios and diarrhoea, and a faecal Cl- concentration which always exceeds 90 mmol/l when fluid and electrolyte deficits have been corrected. Lower faecal Cl- concentrations were seen only in chronic hypochloraemia, which is also associated with achloriduria. Adequate treatment consists of full continuous replacement of the faecal losses of water, NaCl, and KCl. This should be given intravenously in the early neonatal period; later a solution can be taken orally with meals. The dose has to be adjusted to maintain normal serum electrolyte concentrations, normal blood pH, and some chloriduria. This therapy prevents the renal lesions and the retarded growth and psychomotor development which were seen in the children who were diagnosed late and in those who received inadequate replacement therapy. The watery diarrhoea persists and increases slightly with age, though patients learn to live with their disease and to make an adequate social adjustment.
PMCID: PMC1544683  PMID: 324405
16.  Colonic electrolyte transport in health and in congenital chloride diarrhea. 
Journal of Clinical Investigation  1975;56(2):302-310.
Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder, characterized by watery stools with C1- concentration around 150 meq/liter. We have perfused the colon of three patients and their three healthy siblings with different salt solutions containing 36C1- to determine the nature of the colonic defect in CCD. In the controls, net absorption of Na+ and C1- occurred against steep concentration gradients. The influx (lumen-to-plasms flux) of C1- was twice the effux. Omission of HCO3- from the perfusate caused a clear decrease in C1- efflux which suggests a coupling of C1- effux to HCO3- influx. In CCD, net Na+ absorption occurred normally when HCO3- was present in the lumen. However, Na+ absorption was always impaired when the luminal contents were acid, a situation that prevails in CCD. Net K+ secretion was clearly increased. Both influx and efflux of C1- were practically absent. Only slight net secretion occurred along a steep gradient. Net appearance of HCO3- was not observed, in contrast to controls. These findings and earlier studies of ileal function in CCD are best explained by a defect in the C1-/HCO3- exchange mechanism, which operates in both directions in the normal ileum and colon.
PMCID: PMC436588  PMID: 1150872

Results 1-16 (16)