Chlorides ; metabolism ; Diarrhea ; congenital ; Humans

The present paper describes two Korean male infants, 1. 16 year old and newly born neonate from two families who were diagnosed and managed for one of very rare inborn errors of metabolism, congenital chloridorrhea (Darrow-Gamble syndrome). The diagnosis was suggested by one of the authors (HRM) from the unusual combination of metabolic alkalosis with severe gastrointestinal disorder presenting with chronic, profuse watery diarrhea in the newborn period in the first patient; and the maternal polyhydramnios, the appearance of dilated fetal bowel loops on prenatal ultrasonography and profuse watery diarrhea beginning at birth without passage of meconium in the second patient. The diagnosis was confirmed in both patients by examination of the stool chloride concentration which revealed extremely high exceeding the sum of sodium and potassium concentrations. Serum electrolytes and arterial blood gas analyses revealed hyponatremia, hypokalemia and hypochloremia with elevated bicarbonate. With replacement of fluid and electrolyte deficit and adequate dietary supplements of potassium and chloride, both patients remained well although the character of the stools waxed and waned. This is the first reported case of congenital chloridorrhea in korean population.
Adolescent ; Chlorides/*metabolism ; Diagnosis, Differential ; Diarrhea/*congenital/diagnosis/ethnology ; Diarrhea, Infantile/*diagnosis/ethnology/metabolism ; Humans ; Infant, Newborn ; Korea ; Male

The present paper describes two Korean male infants, 1. 16 year old and newly born neonate from two families who were diagnosed and managed for one of very rare inborn errors of metabolism, congenital chloridorrhea (Darrow-Gamble syndrome). The diagnosis was suggested by one of the authors (HRM) from the unusual combination of metabolic alkalosis with severe gastrointestinal disorder presenting with chronic, profuse watery diarrhea in the newborn period in the first patient; and the maternal polyhydramnios, the appearance of dilated fetal bowel loops on prenatal ultrasonography and profuse watery diarrhea beginning at birth without passage of meconium in the second patient. The diagnosis was confirmed in both patients by examination of the stool chloride concentration which revealed extremely high exceeding the sum of sodium and potassium concentrations. Serum electrolytes and arterial blood gas analyses revealed hyponatremia, hypokalemia and hypochloremia with elevated bicarbonate. With replacement of fluid and electrolyte deficit and adequate dietary supplements of potassium and chloride, both patients remained well although the character of the stools waxed and waned. This is the first reported case of congenital chloridorrhea in korean population.
Adolescent ; Chlorides/*metabolism ; Diagnosis, Differential ; Diarrhea/*congenital/diagnosis/ethnology ; Diarrhea, Infantile/*diagnosis/ethnology/metabolism ; Humans ; Infant, Newborn ; Korea ; Male

Bacillus cereus is a common foodborne pathogen. Accidently eating food contaminated by B. cereus will cause vomiting or diarrhea, and even death in severe cases. In the present study, a B. cereus strain was isolated from spoiled rice by streak culture. The pathogenicity and drug resistance of the isolated strain were analyzed by drug sensitivity test and PCR amplification of virulence-associated gene respectively. Cultures of the purified strain were injected intraperitoneally into mice to examine their effects on intestinal immunity-associated factors and gut microbial communities, to provide references for the pathogenic mechanism and medication guidance of these spoilage microorganisms. The results showed that the isolated B. cereus strain was sensitive to norfloxacin, nitrofurantoin, tetracycline, minocycline, ciprofloxacin, spectinomycin, clindamycin, erythrocin, clarithromycin, chloramphenicol, levofloxacin, and vancomycin, but resistant to bactrim, oxacillin and penicillin G. The strain carries seven virulence-associated genes including hblA, hblC, hblD, nheA, nheB, nheC and entFM, which are involved in diarrhea-causing toxins production. After infecting mice, the isolated B. cereus strain was found to cause diarrhea in mice, and the expression levels of immunoglobulins and inflammatory factors in the intestinal mucosae of the challenged mice were significantly up-regulated. Gut microbiome analysis showed that the composition of gut microbial community in mice changed after infection with B. cereus. The abundance of the uncultured_bacterium_f_Muribaculaceae in Bacteroidetes, which is a marker of body health, was significantly decreased. On the other hand, the abundance of uncultured_bacterium_f_Enterobacteriaceae, which is an opportunistic pathogen in Proteobacteria and a marker of dysbacteriosis, was significantly increased and was significantly positively correlated with the concentrations of IgM and IgG. These results showed that the pathogenic B. cereus carrying diarrhea type virulence-associated gene can activate the immune system by altering the composition of gut microbiota upon infection.
Animals ; Mice ; Bacillus cereus/metabolism* ; Food Microbiology ; Immunity, Mucosal ; Diarrhea ; Microbiota ; Enterotoxins/genetics*

Following the acute diarrhea in patients (n = 24) overnight with commonly used laxatives for bowel preparation, the changes in electrolytes and acid-base balance in blood and urine were investigated. Though no alterations of serum sodium or potassium concentrations were noted, mild but significant reduction of mean values (+/- SEM) of plasma pH and HCO3 after diarrhea when compared to those before it developed (pH, from 7.42 +/- 0.01 to 7.39 +/- 0.01, p<0.01; HCO3, from 25.8 +/- 0.6 to 23.7 +/- 0.6 mEq/L, p<0.05). However, significant reduction of concentration in spot urine sodium from 150 +/- 12.3 to 93 +/- 14 mEq/g of crea. (p<0.01) and increase in spot urine potassium from 33 +/- 3.2 to 51 +/- 6.0 mEq/g of crea. (p<0.05) following diarrhea were seen with significant reduction of urine pH from 6.67 +/- 0.21 to 5.5 +/- 0.13 (p<0.001). Also, with this effective urinary acidification following diarrhea, a significant reduction of urinary anion gap as well as significant increment of spot urine ammonium was accompanied (anion gap, from 80.4 +/- 11.1 to 44 +/- 8.5 mEq/g of crea. p<0.001; ammonium, from 87 +/- 18.5 to 229 +/- 37 mg/g of crea. p<0.001) in addition to the significant inverse correlation between these changes in spot urine from basal levels in 24 study subjects (y = -1.13 x +61, r = 0.7, p<0.001). In conclusion, we observed that the acute diarrhea with laxatives used for bowel preparation caused a mild degree of metabolic acidosis with no changes in blood electrolytes.
Acid-Base Equilibrium/*drug effects ; Acute Disease ; Cathartics/pharmacology ; Diarrhea/*metabolism ; Electrolytes/*metabolism ; Human ; Hydrogen-Ion Concentration

BACKGROUND/AIMS: Microscopic colitis is characterized by chronic watery diarrhea with specific pathological changes that can be diagnosed by microscopic examination. We performed immunohistochemical analysis of proinflammatory cytokines to investigate the pathogenic mechanism of microscopic colitis. METHODS: This study consisted of six patients with lymphocytic colitis, six patients with collagenous colitis, and six patients with functional diarrhea but normal pathology. We performed an immunohistochemical analysis of the colonic mucosal biopsies to assess the expression of cyclo-oxygenase-2, interleukin-17, nuclear factor-kappaB, interferon-gamma, inducible nitric oxide synthase, and tumor necrosis factor-alpha. We compared the quantity score of immunohistochemical staining among the groups. RESULTS: The microscopic colitis group showed significantly higher expression of cyclo-oxygenase-2, interleukin-17, nuclear factor-kappaB, and interferon-gamma compared with the control group. Cytokine expression was similar between collagenous colitis and lymphocytic colitis. However, the expression of cyclo-oxygenase-2 was higher in collagenous colitis. CONCLUSIONS: Proinflammatory cytokines, including interleukin-17 and interferon-gamma, are highly expressed in microscopic colitis. The expression of cyclo-oxygenase-2 was higher in collagenous colitis than in lymphocytic colitis. This study is the first on interleukin-17 expression in microscopic colitis patients.
Biopsy ; Colitis, Microscopic/*metabolism ; Colon/pathology ; Cyclooxygenase 2/*metabolism ; Cytokines/metabolism ; Diarrhea/metabolism ; Humans ; Interferon-gamma/metabolism ; Interleukin-17/*metabolism ; Intestinal Mucosa/pathology ; NF-kappa B/metabolism ; Nitric Oxide Synthase Type II/*metabolism ; Tumor Necrosis Factor-alpha/metabolism

BACKGROUNDWe analysed and compared the aquaporin 8 (AQP8) expression in ascending and descending colon mucosa between patients with diarrhoea-predominant irritable bowel syndrome (D-IBS) and healthy volunteers, in order to study the relationship between the clinical feature of IBS, the expression of AQP8 and the pathological mechanism of D-IBS.

METHODSSpecimens were taken from the proximal ascending colon or distal descending colon of D-IBS patients (n = 26) and healthy volunteers (n = 30), and AQP8 mRNA expression of each specimen was determined by fluorescent quantitative reverse transcription polymerase chain reaction (FQ-RT-PCR). In patients with D-IBS, the relationship was analysed between AQP8 expression in both ascending and descending colons and clinical features including gender, age of onset, duration of illness, frequency of defecation, and stool characteristics.

RESULTSAlthough AQP8 was present in the epithelium of the ascending and descending colons in healthy persons and D-IBS patients, the AQP8 level of the D-IBS patients was significantly lower than that of the healthy persons (P < 0.01 in the ascending colon, P < 0.05 in the descending colon). AQP8 expression was not correlated with the age of patients with D-IBS (P > 0.05 both in the ascending and descending colons) or the age at the onset (P > 0.05 both in the ascending and descending colons), but closely with the duration of illness (P < 0.05 in the ascending colon, P < 0.01 in the descending colon), frequency of defecation (P < 0.01 in the ascending colon, P < 0.05 in the descending colon) and stool characteristics (P < 0.01 in the ascending colon, P > 0.05 in the descending colon).

CONCLUSIONSThe decreased AQP8 expression in D-IBS patients indicates that dysfunction of colonic absorption may cause reduced water absorption, loose stool and diarrhoea. The expression of AQP8 may be related to D-IBS.

Adult ; Aged ; Aquaporins ; genetics ; Colon ; metabolism ; Diarrhea ; metabolism ; Female ; Humans ; Intestinal Mucosa ; metabolism ; Irritable Bowel Syndrome ; metabolism ; Male ; Middle Aged ; RNA, Messenger ; analysis

Spleen kidney Yang deficiency (SKYD) diarrhea is a common syndrome in tranditional Chinese medicine (TCM). Until now, there is not an ideal SKYD diarrhea rat model for the research. In this study, we compared single factor way (method I, injecting hydrocortisone and gavaging Sennae Folium) with compound factors way(method II, gavaging adenine, improper diet, exhaustion, and gavaging Sennae Folium) on establishing SKYD diarrhea rat model. After modelling, diarrhea index, D-xylose excretory rate, NOS/cGMP signal transduction system, organ index and histopathology examination were used to evaluate the two ways. The results showed that, compared with health group, all the assessment criterias of method I and method II had significant differences (P < 0.01, 0.05). In addition, the index such as diarrhea index, NOS/cGMP signal transduction system, organ index (kidney, testis and thymus) and histopathology examination had significant differences (P < 0.01, 0.05) between method I and method II. In conclusion, the compound factors modelling method better conforms to the symptom of diarrhoea model caused by SKYD. This new modelling method provides a basis for studying on TCM astringents warming and tonifying the spleen and kidney, relieving diarrhea.
Animals ; Diarrhea ; metabolism ; pathology ; physiopathology ; Disease Models, Animal ; Humans ; Kidney ; pathology ; physiopathology ; Male ; Rats ; Rats, Sprague-Dawley ; Spleen ; pathology ; physiopathology ; Xylose ; metabolism ; Yang Deficiency ; metabolism ; pathology ; physiopathology

Congenital chloride diarrhea (CLD) is a rare inherited autosomal recessive disorder. Mutations of the solute carrier family 26 member 3 gene cause profuse, chloride ion rich diarrhea, which results in hypochloremia, hyponatremia and metabolic alkalosis with dehydration. If a fetal ultrasound shows bowel dilatation suggestive of bowel obstruction, or if a neonate shows persistent diarrhea and metabolic alkalosis, CLD should be considered in the differential diagnosis. The severity of CLD varies, but early detection and early therapy can prevent complications including growth failure. We report a case of dizygotic twins affected by CLD who had been born to non-consanguineous parents. Both of them showed growth failure, but one of the twins experienced worse clinical course. He showed developmental delay, along with dehydration and severe electrolyte imbalance. He was diagnosed with CLD first at 6-month age, and then the other one was also diagnosed with CLD.
Alkalosis ; Dehydration ; Diagnosis, Differential ; Diarrhea ; Dilatation ; Humans ; Hyponatremia ; Infant, Newborn ; Metabolism, Inborn Errors ; Parents ; Polyhydramnios ; Secondary Prevention ; Twins, Dizygotic

Adult ; Aged ; Amylases ; metabolism ; Diarrhea ; blood ; enzymology ; therapy ; Female ; Humans ; Male ; Middle Aged ; Moxibustion ; Single-Blind Method