Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036690 (sepsis)
 59,461 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cystic fibrosis (CF), an epithelial cell transport disorder caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, is not generally associated with malformations of the central nervous system (CNS). This report describes two African-American children who died at less than 2 years of age with known Chiari I malformations and were found, unexpectedly at autopsy, to have the classic pancreatic and respiratory changes of CF. Both patients had suffered from failure to thrive that had been attributed to their CNS malformations. One child also had recurrent pneumonia and died with Pseudomonas sepsis. Mutational analysis for > 70 common CFTR mutations identified a single delta F508 mutation in one patient and a single 3120+1G to A mutation in the other. Their second CFTR mutations were not identified. The association of CF with Chiari I malformation is not likely to be purely coincidental, as the probability of such an occurrence in African-Americans is greater than one in 7,500,000 patients. It is possible that the CFTR gene may play a previously unrecognized role in CNS development. Alternatively, this CNS abnormality may be acquired due to the metabolic and electrolyte imbalances that characteristically occur in CF.
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PMID:Cystic fibrosis and Chiari type I malformation: autopsy study of two infants with a rare association. 1241 81

The necessity to optimise the management of atopic dermatitis of infants needs knowledge of three components: increase of prevalence, extreme frequency of food allergy and increase in the frequency of the syndrome of multiple allergies, that frequently develops into asthmatic disease. Management of DA in infancy (first year of life) is based on the global strategy of understanding the physiological Th2 polarisation at birth, that does not allow a re-equilibration of the Th1-Th2 balance that progresses in the first six months of life (in normal infants) making in this period a window of opportunity for sensitizations. Prevention in high-risk children (familial history of atopy) covers the non-exposure to in door pollutants (tobacco and volatile organic compounds), breast-feeding or a hypoallergenic formula for a hydrolysate of pork and soya proteins or better an extensive hydrolysate of casein. Four situations require moving to an amino acid substitute: failure to thrive, severe atopic dermatitis, a syndrome of multiple food allergies, allergy to hydrolysates. Reintroduction of foods should be considered with the least delay so as to induce digestive tolerance. It should take into account the clinical development, the intensity of the sensitisation and eventually depend on a realistic test of introduction. Management of DA searches for recovery of generalized eczema, failure to immediate improvement of quality of life prevention of immediate complications (local sepsis) acceleration of return to food tolerance. Prevention of ulterior development of asthma by immediately introducing measures to diminish respiratory exposure to allergens and tobacco is hoped for.
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PMID:Optimal management of atopic dermatitis in infancy. 1251 91

Recent advances in immunologic techniques have lead to increased recognition of primary immunodeficiencies. A review of patients with suspected immunodeficiencies in a Taiwan tertiary hospital from January 1985 to October 2004 and molecular/genetic analyses done on some patients were investigated. Of the 403 patients selected based on the International Classification of Disease, Ninth Revision, 37 patients with PID (8 females and 29 males) were identified: 17 (46%) with antibody production deficiencies, nine (24%) with defective phagocyte function, four (11%) with combined B and T cell immunodeficiencies, seven (19%) with T cell deficiencies, but none with primary complement deficiencies. Those with secondary immunodeficiencies were excluded from the study. Recurrent sinopulmonary infections (62%) were the most common clinical manifestation, followed by sepsis (57%), severe skin infection (40%), splenomegaly/hepatomegaly (27%), central nervous system dysfunction (22%), chronic diarrhea (22%), and failure to thrive (19%). Seven (19%) patients died, five of infections, one of disseminated intravascular coagulopathy and one of hepatocellular carcinoma. Six novel mutations were found from 11 agreed patients. This is the first report on primary immunodeficiencies in Taiwan covering a 20-year period.
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PMID:Distribution and clinical aspects of primary immunodeficiencies in a Taiwan pediatric tertiary hospital during a 20-year period. 1582 93

We report a 30-month-old female with intrauterine growth retardation, postnatal failure to thrive, pancytopoenia and myelodysplasia with monosomy 7 in the marrow. The child succumbed to overwhelming sepsis, following a bone marrow transplant to facilitate chemotherapy for metastatic hepatoblastoma--a tumour that has not been previously reported in myelodysplasia syndromes. Cytogenetic, molecular and microarray analysis of peripheral blood, skin fibroblasts and bone marrow revealed unusual results, suggestive of somatic chromosome instability. A normal peripheral blood karyotype was documented in infancy. Monosomy 7 was found in the bone marrow. Molecular (microsatellite marker) results for a later peripheral blood specimen were suggestive of partial maternal isodisomy 7q, and this was supported by microarray data on single-nucleotide polymorphisms. Microarray data on gene copy number, collected for the same blood specimen, indicated cryptic mosaicism for the monosomy 7 cell line, with the monosomic line lacking the paternal copy. In fibroblasts, cytogenetic data showed mosaic partial trisomy for distal 7p.
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PMID:Chromosome 7 aberrations in a young girl with myelodysplasia and hepatoblastoma: an unusual association. 1631 99

The benefits of feeding newborns with human milk are well established. Unfortunately some hospital practices do not support successful breastfeeding; practices such as early hospital discharge after birth, lack of appropriate follow-up primary care providers, and lack of access to breastfeeding support services can contribute to breastfeeding failure, as well as morbidity and mortality in the infant. Infants experiencing breastfeeding difficulties are sometimes admitted to the hospital with diagnoses such as hyperbilirubinemia/jaundice, dehydration/hypernatremia, rule out sepsis, and weight loss/failure to thrive. This article describes a clinical pathway developed with the express purpose of maintaining and enhancing lactation in mother-infant dyads experiencing breastfeeding difficulties. The goal of the pathway is to maintain lactation and breastfeeding while returning the infant to a state of health. A key focus of the pathway is milk transfer, a concept that is missing from much of the research on lactation difficulties. The pathway considers breastfeeding from both a maternal and an infant perspective, with a goal of preserving breastfeeding. It uses technology to support the breastfeeding process and could be useful for all practitioners working with mother-infant dyads experiencing breastfeeding difficulties.
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PMID:Preserving breastfeeding for the rehospitalized infant: a clinical pathway. 1637 25

The congenital nephrotic syndrome (CNS) is an uncommon disorder with onset of the nephrotic syndrome usually in the first three months of life. Several different diseases may cause the syndrome. These may be inherited, sporadic, acquired or part of a general malformation syndrome. The clinical course is marked by failure to thrive, recurrent life threatening bacterial infections, and early death from sepsis and/or uremia. A characteristic phenotype may be seen in children with CNS. The majority of reported cases of CNS are of the Finnish type (CNF). Although the role of the glomerular basement membrane has been emphasized as the barrier for retaining plasma proteins, recent studies have clearly shown that the slit diaphragm is the structure most likely to be the barrier in the glomerular capillary wall. The gene (NPHS1) was shown to encode a novel protein that was termed nephrin, due to its specific location in the kidney filter barrier, where it seems to form a highly organized filter structure. Nephrin is a transmembrane protein that probably forms the main building block of an isoporous zipper-like slit diaphragm filter structure. Defects in nephrin lead to the abnormal or absent slit diaphragm resulting in massive proteinuria and renal failure.
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PMID:Congenital nephrotic syndrome. 1765 4

Failure to thrive is frequently seen in breastfed infants. The most common diagnosis is insufficiency of breast milk in an otherwise healthy child. However, several differential diagnoses need to be considered. Progressive feeding difficulties and failure to thrive can be the first manifestation of group B streptococcal ventriculitis. This rare disease does not present with acute symptoms of sepsis or meningitis but evolves insidiously with no fever. Diagnosis is therefore often delayed and made only when intracranial hypertension develops. Cerebrospinal fluid (CSF) culture confirming the group B streptococcal infection and cerebral imaging are the necessary investigations for diagnosis. To our knowledge, only 10 cases have been previously reported.
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PMID:[A 6-week-old infant with failure to thrive: insidious presentation of group B streptococcal ventriculitis]. 1924 27

Congenital short bowel syndrome (SBS) is a relatively rare condition as compared to acquired SBS. It is associated with significant mortality and morbidity. Infants usually present with failure to thrive, recurrent vomiting, and diarrhea. It is important to suspect and diagnose this condition promptly, as early initiation of parenteral nutrition or surgery, if necessary, may result in a favorable outcome. We discuss a case of an infant aged 26 days, who presented with failure to thrive, recurrent vomiting, and weight loss. A contrast study of the gastrointestinal tract revealed a short small bowel, with malrotation. The infant was started on parenteral nutrition, but succumbed shortly thereafter to severe disseminated sepsis.
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PMID:Case report: Congenital short bowel syndrome. 2104 53

Galactosemia is a treatable metabolic disorder caused by the deficiency of enzyme galactose-1-phosphate uridyl transferase (GALT) and inherited as an autosomal recessive trait. A case of neonate manifesting with recurrent Escherichia coli sepsis is presented here which turned out to be a classic galactosemia. No other common presenting features were observed in this infant except cataract on slit lamp examination. To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, diarrhea, failure to thrive, hypoglycemia, coagulopathy, hemolysis or renal tubular acidosis.
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PMID:Galactosemia presenting as recurrent sepsis. 2132 Oct 7

Defects in mevalonate kinase, a critical rate-limiting enzyme in cholesterol and isoprene metabolism, have been associated with 2 clinical phenotypes: mevalonic aciduria, which presents in infancy or early childhood with growth failure, dysmorphic features, and neurologic disease; and hyperimmunoglobulinemia D and periodic fever syndrome, which usually presents outside the neonatal period as an autoinflammatory periodic fever syndrome. This report describes a kindred with 2 siblings affected by severe mevalonate kinase deficiency (mevalonic aciduria) with perinatal onset. Dysmorphic and central nervous system abnormalities, anemia, and cholestasis were prominent features in 1 sibling. Both cases were fatal, 1 in the immediate neonatal period and 1 in utero. The small number of cases of mevalonate kinase deficiency presenting in the perinatal period have typically been severely affected, with signs and symptoms of a severe multisystem disorder. Predominant features of perinatal onset mevalonate kinase deficiency include intrauterine growth restriction, cerebral ventriculomegaly, dysmorphic features, skeletal abnormalities, dyserythropoietic anemia with extramedullary erythropoiesis, thrombocytopenia, cholestatic liver disease, persistent diarrhea, renal failure, recurrent sepsis-like episodes, and failure to thrive. Clinical findings may mimic severe intrauterine viral infection, a chromosomal abnormality, or an acute sepsis syndrome, potentially contributing to delays in diagnosis of this rare condition. Perinatal onset mevalonate kinase deficiency is associated with a very poor prognosis, with death in utero or in early infancy. Detailed autopsy findings in mevalonate kinase deficiency have rarely been reported.
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PMID:Perinatal onset mevalonate kinase deficiency. 2142 20


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