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Results for “Lactose Intolerance”

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At least 1,675 records · Page 93Linked to original sources
PubMed1980

Adult GM1 gangliosidosis: clinical and biochemical studies on two patients and comparison to other patients called variant or adult GM1 gangliosidosis.

Two young adult siblings were diagnosed as having a deficiency of acid beta-galactosidase activity in leukocytes and fibroblasts. The parents had enzyme levels approximately half of the normal level, consistent with this being the primary enzymatic lesion. Sialidose activities measured with natural and synthetic substrates in the patient's skin fibroblast cultures were normal. Hybridization of one of these patient's cells with cells from a patient with GM1 gangliosidosis, Type 1 did not show complementation of beta-galactosidase activity. However, when the cells from the patient were hybridized with cells from a patient with combined sialidase and beta-galactosidase deficiency, complementation was observed. These two siblings have ataxia, mild intellectual deterioration, slurred speech, mild vertebral changes and little, if any, visceromegaly. They do not have myoclonus, seizures or cherry-red spots, which are found in most patients with combined sialidase and beta-galactosidase deficiency. These patients are discussed with regard to other patients in the literature called variant or adult GM1 gangliosidosis.

Adult↗
PubMed1984

Combined sialidase (neuraminidase) and beta-galactosidase deficiency. Clinical, morphological and enzymological observations in a patient.

A patient with combined deficiency of sialidase and beta-galactosidase is described. This now 39-year-old man, who is of Japanese origin, showed gradually progressive clinical features from the age of six years. Many of these features are commonly found in sialidosis type 2 or in GM1-gangliosidosis. Both sialidase and beta-galactosidase activities were deficient in leucocytes and cultured fibroblasts. Leucocytes of his mother showed activities of both enzymes in the lower limit of the control range. Morphologically, the pattern of storage products in a skin biopsy resembled in many respects that seen in GM1-gangliosidosis. Moreover, storage products which could be typical of sialidosis were also observed. Since the patient showed angiokeratomata, the morphological findings were compared with those specific to Fabry's disease, but no similarities were found. An enzymological diagnosis of the disease is most reliable on cultured fibroblasts, discriminating it from sialidosis type 2 and GM1-gangliosidosis. In view of recent findings, leucocytes seem to be less suitable for the establishment of the diagnosis galactosialidosis.

Adult↗
PubMed1987

Extreme metabolic acidosis. Case report.

A 42-year-old male patient, who suffered from insulin-dependent diabetes mellitus (IDDM) and intolerance of lactose, presented with extreme metabolic acidosis (lactic acidosis). On arrival, an arterial blood sample showed: pH 6.79, PO2 18.8 kPa, PCO2 0.9 kPa, base excess-33 mmol l-1, blood glucose 38 mmol l-1 and oesophageal temperature 30 degrees C. Apart from the uncontrolled hyperglycaemia, a fluid balance disorder elicited by diarrhoea and disturbed tissue perfusion were possible aetiological factors. The patient was treated with a low-dose insulin regimen and infusion of isotonic sodium bicarbonate with a satisfactory result.

Acidosis↗
PubMed1982

A prospective study of persistent diarrhoea.

A prospective study was undertaken in 100 patients with diarrhoea to identify the causes and to better define the prevalence of the irritable bowel syndrome (IBS) and to determine if there was a diagnostic symptom complex evident in patients with IBS. A diagnosis of IBS was made in 28 patients and in this group the prevalence of lactase deficiency was found to be 40%. Pain in association with urgency was usual and urgency occurring in the absence of pain was more likely to be found in association with an organic colonic lesion. The two most important symptoms which distinguish IBS from other causes were blood in the motions and weight loss. Giardia lamblia were found in nine patients and 15 patients responded to an empirical course of either metronidazole or tinidazole, without a positive diagnosis of giardiasis being made. Fourteen patients had inflammatory bowel disease and a variety of drugs were responsible for diarrhoea in 10% of patients. Sigmoidoscopy and small bowel biopsy were the most valuable diagnostic investigations.

Adolescent↗
PubMed2005

Genetic variant of lactase-persistent C/T-13910 is associated with bone fractures in very old age.

OBJECTIVES: To determine the relation between the C/T(-13910) single-nucleotide polymorphism residing 13,910 base pairs from the 5' end of the lactase gene associated with lactase persistence and the occurrence of bone fractures in elderly people. DESIGN: Population-based study. SETTING: Vantaa 85+ population-based study, including all 601 subjects born before April 1, 1906, who were living in the city of Vantaa, Finland, on April 1, 1991. PARTICIPANTS: Four hundred eighty-three people aged 85 and older (106 men and 377 women). MEASUREMENTS: Genotype determination was made using a polymerase chain reaction minisequencing technique. RESULTS: The frequency of the genotype C/C(-13910) associated with adult-type hypolactasia (low lactase enzyme activity or primary lactose malabsorption (LM)) was significantly greater in individuals with hip fractures, with an adjusted odds ratio (OR) of 3.7 (95% confidence interval (CI)=1.8-7.8), wrist fractures with an adjusted OR of 2.5 (95% CI=1.2-5.2), and hip and wrist fractures combined with an adjusted OR of 4.1 (95% CI=2.0-8.3). CONCLUSION: The C/C(-13910) genotype associated with primary LM could represent a genetic risk factor for bone fractures for elderly people.

Aged↗
PubMed1999

Additional investigations fail to alter the diagnosis of irritable bowel syndrome in subjects fulfilling the Rome criteria.

OBJECTIVE: Irritable bowel syndrome (IBS) is diagnosed by the presence of a constellation of symptoms fulfilling the Manning or Rome Criteria, after exclusion of organic disease. To exclude other diagnoses that might contribute to the abdominal pain or bowel symptoms experienced by subjects with IBS, numerous screening algorithms have been advocated, incorporating lactose hydrogen breath tests, thyroid function tests, fecal ova and parasite determination, and colonic endoscopy/radiography. The utility of these tests in uncovering alternative diagnoses, other than IBS, was examined in 1452 patients. METHODS: Data were combined from two large multinational studies of IBS patients. All patients exhibited symptoms meeting the Rome criteria for IBS for at least 6 months before study entry. If prior evaluation had been > 2 yr previously, patients underwent colonic endoscopy/radiography at study entry. In addition, thyroid function tests, fecal ova and parasite determination, and a lactose hydrogen breath test were performed. RESULTS: Lactose malabsorption was diagnosed in 23% (256/1122) of patients. Colonic abnormalities were detected in 2% (7/306) of patients; in four patients, colonic inflammation (n = 3) or obstruction (n = 1) may have contributed to symptoms of abdominal pain or altered bowel habits. Abnormal thyroid-stimulating hormone levels were detected in 6% (67/1209) of patients, of whom half were hypothyroid and half were hyperthyroid. Positive fecal ova and parasite tests were noted in 2% (19/1154) of patients. CONCLUSIONS: Examination of screening tests in 1452 patients with an established history of IBS revealed an incidence of lactose malabsorption comparable to that in the general U.S. population and a low incidence of thyroid dysfunction, ova and parasite infestation, or colonic pathology. The limited detection rates, added costs, and inconvenience of these tests suggest that their routine use in the diagnostic evaluation of established IBS patients should be scrutinized.

Adult↗
PubMed1993

Potential of using lactic acid bacteria for therapy and immunomodulation in man.

There is in 1993 no proven medical indication of lactic acid bacteria (LAB) for therapy or immunomodulation in man. However, within the bulk of publications, rigorous trials have now opened rational fields of research on beneficial effects of LAB. These include lactose digestion, cholesterol metabolism, diarrheal disorders, prophylaxis of intestinal or urogenital infections, immunomodulation or even oral vaccination. We try here to analyse these studies, considering LAB as pharmacological agents, and conclude that pursuit of research could be promising for ecological therapy of mucosal diseases, and for development of original and flexible vectors for targeting in the gastrointestinal tract.

Colonic Neoplasms↗