Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Circulating non-T lymphocytes had higher activities of 5'nucleotidase (plasma membrane), neutral alpha-glucosidase (endoplasmic reticulum) and basal leucine amino-peptidase than did T lymphocytes. Activities of catalase (peroxisomes), malate dehydrogenase (mitochondria), lactate dehydrogenase (cytosol) and N-acetyl-beta-glucosaminidase, beta-glucuronidase and acid phosphatase (lysosomes), were similar in the lymphocyte subfractions. Lymphocyte 5'nucleotidase (plasma membrane) in patients with common variable hypogammaglobulinaemia is much lower than normal. However, the decrease is less marked in X-linked hypogammaglobulinaemia, chronic lymphatic leukaemia or protein loosing enteropathy or in lymphocytes isolated from cord blood. Cells from patients with nephrotic syndrome had normal levels of 5'nucleotidase. Other plasma membrane marker enzymes (gamma-glutamyl transferase, leucine amino-peptidase) were normal in lymphocytes from patients with common variable hypogammaglobulinaemia. There is a selective reduction of mitochondrial (malate dehydrogenase) and cytosolic (lactate dehydrogenase) enzymes, with normal activities of lysosomal, peroxisomal and endoplasmic reticulum enzymes, in patients with common variable hypogammaglobulinaemia. The lymphocyte subcellular organelles in normal subjects and patients with common variable hypogammaglobulinaemia have similar properties on sucrose density gradient centrifugation. It is suggested that lymphocytes from patients with common variable hypogammaglobulinaemia show a specific enzymopathy and that this is not simply a reflection of cellular immaturity.
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PMID:Lymphocyte enzyme activities in immunodeficiency syndromes with particular reference to common variable hypogammaglobulinaemia. 630 45

Cow's milk protein sensitive enteropathy (CMPSE) is characterized by the following items: 1. The great majority of affected infants have not been breast fed or only for a few days. Additional risks are immaturity, preceding enteritis, trisomy 21, and abdominal operation in the newborn. 2. Half of the patients become ill during the first two weeks after starting cow's milk formula. The main symptoms are watery, mucus containing diarrhea, vomiting, abdominal distension, pallor and rapid weight loss. 3. In CMPSE the small intestinal mucosa shows varying degrees of inflammation and villous atrophy. Bloody stools refer to large bowel affection. 4. CMPSE is always transitory and usually persists for less than one year. Inadequate treatment leads to "severe protracted diarrhea" or "intractable diarrhea" syndrome. Soya-based formula should not be the diet of first choice, since secondary intolerance to soya proteins will frequently develop. Exclusive breast feeding during the first months of life is the best prophylaxis of CMPSE.
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PMID:[Cow's milk protein sensitive enteropathy]. 675 83

In order to prevent the penetration of intraluminal material such as micro-organisms, food antigens, toxins etc. across the intestinal mucosa, a complex defence mechanism has been developed. This mechanism consists of non-immunological defence with enzymatic detoxification as well as an immunological one. The nature of the immunological defence has been thoroughly elucidated during the past 10-15 years. This mechanism is in man based on a special local immunological resistance, where production of secretory IgA plays the main role. Immunoglobulin producing plasma cells appear relatively late after birth in the lamina propria of the gut mucosa. Therefore a physiological immaturity of the immunological defence during first weeks of life can be anticipated. The role of the immunological defence system in the control of dietary antigen penetration across gut epithelium has been much discussed. Circulating antibodies to cow's milk proteins in small infants after milk ingestion and the almost constant finding of such antibodies in high titre in patients with selective IgA deficiency even without intestinal disease indicate a highly significant function of this local immunity in antigen handling. It has been suggested that the apparently high incidence of food allergy in infancy is due to immaturity of this system. Cow's milk protein induced enteropathy is also strictly bound to this age group.
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PMID:The immune response of the intestinal mucosa to foreign proteins. 696 45

Necrotizing enterocolitis (NEC) has largely been present in neonatal intensive care units for the past 60 years. NEC prevalence has corresponded with the continued development and sophistication of neonatal intensive care. Despite major efforts towards its eradication, NEC has persisted and appears to be increasing in some centers. The pathophysiology of this disease remains poorly understood. Several issues have hampered our quest to develop a better understanding of this disease. These include the fact that what we have historically termed 'NEC' appears to be several different diseases. Animal models that are commonly used to study NEC pathophysiology and treatment do not directly reflect the most common form of the disease seen in human infants. The pathophysiology appears to be multifactorial, reflecting several different pathways to intestinal necrosis with different inciting factors. Spontaneous intestinal perforations, ischemic bowel disease secondary to cardiac anomalies as well as other entities that are clearly different from the most common form of NEC seen in preterm infants have been put into the same database. Here I describe some of the different forms of what has been called NEC and make some comments on its pathophysiology, where available studies suggest involvement of genetic factors, intestinal immaturity, hemodynamic instability, inflammation and a dysbiotic microbial ecology. Currently utilized approaches for the diagnosis of NEC are presented and innovative technologies for the development of diagnostic and predictive biomarkers are described. Predictions for future strategies are also discussed.
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PMID:Necrotizing enterocolitis: the mystery goes on. 2517 44