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  • 1
    ISSN: 1432-1076
    Keywords: Key words Maternal ; phenylketonuria ; Indices of dietary control ; Phenylalanine ; Pregnancy ; Microcephaly
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The International Maternal Phenylketonuria (PKU) Collaborative Study commenced in 1984 to evaluate the efficacy of the low-phenylalanine diet in reducing the morbidity associated with maternal PKU syndrome. Four hundred and sixty eight (468) pregnancies resulted in 331 live births, 3 stillbirths, 61 spontaneous abortions, 2 ectopic pregnancies and 71 elective terminations. Since its inception, the study has steadily progressed toward its goal of diet initiation preconception or early in pregnancy. By 1994, 51% of the sample began the diet preconceptionally, with an additional 41% doing so by 8 weeks gestation. The number of adolescent pregnancies has decreased from 31% to 9%, college attendance has increased from 5% to 16%, number of women in the lowest socioeconomic classes has decreased from 95% to 59% and average IQ has increased from 78 to 88. The organization of the network of 130 referral centers and clinics within the U.S.A., Canada and Germany and the objectives of the scientific research investigation have served to provide a derived benefit of outreach, education, reproductive counseling and early diet intervention in a large cohort of PKU women.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 58 (1980), S. 1023-1028 
    ISSN: 1432-1440
    Keywords: Insulin-abhängiger Diabetes ; Diabetische Nephropathie ; Chronisches Nierenversagen ; Insulin dependent diabetes ; Diabetic nephropathy ; Chronic renal failure
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Chronic uremia caused by diabetic glomerulopathy accounts for about 25 percent of new patients treated by maintenance hemodialysis. At the onset of glucose intolerance, insulin dependent diabetics have larger than normal kidneys, with a markedly increased glomerular filtration rate. During the subsequent 15 to 20 years of insulin use, glomerulosclerosis progresses silently, until a clinically overt nephrotic syndrome becomes evident. Thereafter, the clinical manifestations of nephropathy appear rapidly with an exponential decline in creatinine clearance to less than 5 ml/min within one to five years. Putting together a life plan for a nephrotic and azotemic diabetic involves awareness, and coordinated management of not only renal but extrarenal vasculopathic complications of diabetes, especially proliferative retinopathy. Carefully made preparations for hemodialysis and/or renal transplantation will increase chances for at least a short-term favorable outcome, which can now be anticipated in a growing proportion of patients.
    Notes: Zusammenfassung Eine diabetische Glomerulosklerose ist für ca. 25% der neu ins Hämodialyseprogramm aufzunehmenden Urämiepatienten verantwortlich. Zu Beginn ihrer Glukoseintoleranz zeigen insulinpflichtige Diabetiker eine erhöhte glomeruläre Filtrationsrate und übernormal große Nieren. Während der sich anschließenden Therapieperiode mit Insulin schreitet die Glomerulosklerose zunächst unmerklich fort, bis sich nach 15–20 Jahren ein nephrotisches Syndrom demaskiert. Innerhalb einer Zeitspanne von 5 Jahren kommt es sodann zu einer raschen Manifestation der Niereninsuffizienz mit einer exponentiall abnehmenden Kreatininclearance auf weniger als 5 ml/min. Der Therapieplan des nephrotischen Diabetikers mit Azotämie umfaßt neben der detaillierten Aufklärung des Patienten eine koordinierte Behandlung aller im Rahmen der diabetischen Grunderkrankung auftretenden renalen und extrarenalen Komplikationen, insbesondere der proliferativen Retinopathie. Sorgfältig getroffene Vorbereitungen für die Hämodialyse und/oder die Nierentransplantation erhöhen — zumindest für eine begrenzte Zeit — die Chancen auf eine verbesserte Lebensqualität.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Cardiac myxomas are rare tumors that may be encountered sporadically or in the context of the Carney complex. The molecular basis for the development of cardiac myxomas and Carney complex tumors is unclear. Pathological myocardial function and myocardial hypertrophy have been associated with alterations in the heterotrimeric GTP-binding proteins. The postulated proto-oncogenic character of the gene encoding the alpha subunit of the stimulatory GTP-binding protein Gsα (gsp) in pituitary and thyroid tumors, the finding of identical somatic gsp mutations in the myocardium of patients with McCune-Albright syndrome, and the associated endocrine anomalies of the Carney complex prompted us to investigate the occurrence of activating missense mutations in the Gsα gene in 10 sporadically occurring atrial myxomas and in 8 tumors from 7 patients with Carney complex. No gsp mutations could be demonstrated by using the polymerase chain reaction and denaturing gradient gel electrophoresis complemented by direct DNA sequencing. Thus, activating Gsα mutations neither are associated with the development of atrial myxomas, nor can be demonstrated in other tumors from patients with Carney complex. The significance of these mutations in the myocardium of asymptomatic patients with McCune-Albright syndrome remains to be determined.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Germline mutations in the presenilin 1 (PS1) gene apparently account for the majority of early-onset, familial Alzheimer’s disease (AD). Using a mutation-screening strategy (denaturing gradient gel electrophoresis; DGGE), we analyzed a large family with early onset AD and seizures. The patients in this family showed a novel missense mutation in exon 5 of the PS1 gene (A to T change in codon 120, altering glutamine to aspartic acid). This novel mutation is located within the second hydrophilic domain of the molecule, a region not particularly involved in previously described germline mutations, and is of unknown biological significance. These results also demonstrate that DGGE can be used effectively to screen for mutations within this gene.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1076
    Keywords: Key words Phenylketonuria ; Dietary treatment ; Physical growth ; Cognitive development ; Blood ; phenylalanine
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The Collaborative Study of children treated for phenylketonuria (PKUCS) was conducted to investigate prospectively the effects of dietary restriction of phenylalanine on the growth and development of these children. Patients with classic phenylketonuria were identified by newborn screening and began treatment shortly thereafter. All were given the restricted diet until age 6 years, when half were randomly assigned to continue and half to discontinue dietary therapy. By age 10 years, 35% had deviated from randomization. The effects of diagnostic, treatment, and psychosocial factors on cognitive test scores were evaluated through 12 years of age. After controlling for parent IQ, significant correlations were noted between various measures of control of blood phenylalanine and their scores on intelligence, reading, spelling and behavior tests, but not for arithmetic or language scores. Bender Gestalt test scores were related to phenylalanine level at the time of testing, but not to early treatment history. These findings strongly support the importance of early initiation of dietary treatment and continuation of therapy throughout childhood.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 155 (1996), S. S90 
    ISSN: 1432-1076
    Keywords: Key words Phenlyketonuria in ; adults ; Blood phenylalanine ; Dietary restriction ; Adults
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Forty-three adults with classical phenylketonuria were identifed by neonatal screening and treated with a phenylalanine (Phe) restricted diet. Nineteen have remained on dietary treatment with varying levels of blood Phe control and 24 have discontinued the diet at an average age of 7.8 years. Follow up at an average age of 22 years revealed that the cohort remaining on dietary treatment have achieved substantially better social and academic achievement than the 24 who discontinued dietary treatment. Another group of 19 adults who were not diagnosed until an average age of 2.5 years have also been evaluated after an average of 22 years on a Phe restricted diet. This report is based upon Wechsler Adult Intelligence Revised Test scores, attendance at college, employment and marital status.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 146 (1987), S. A12 
    ISSN: 1432-1076
    Keywords: Phenylketonuria ; Intelligence quotient ; School achievement ; Diet therapy ; Phenylalanine
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 663 (1992), S. 0 
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Nuclear Physics, Section A 389 (1982), S. 18-28 
    ISSN: 0375-9474
    Keywords: Nuclear reactions
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Physics
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Nuclear Physics, Section A 272 (1976), S. 82-90 
    ISSN: 0375-9474
    Keywords: Nuclear reaction
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Physics
    Type of Medium: Electronic Resource
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