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  • 1
    Electronic Resource
    Electronic Resource
    Type 4 renal tubular acidosis (subtype 2) in a patient with methylmalonic acidaemia (1990)
    Springer
    European journal of pediatrics 150 (1990), S. 115-118 
    Details
    ISSN: 1432-1076
    Keywords: Methylmalonic acidaemia ; Type 4 renal tubular acidosis ; Chronic renal disease ; Tubulo-interstitial nephritis ; Hyporeninaemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 10-month-old male infant with vitamin B12 non-responsive methylmalonic acidaemia is reported. Laboratory results revealed hyperkalaemic, hyperchloraemic, metabolic acidosis with slight azotaemia. The urinary pH decreased (below 5.5) to compensate for acidaemia. Levels of plasma renin activity and plasma aldosterone concentration were low. The renal biopsy showed tubulo-interstitial nephritis. We suggested the diagnosis of type 4 renal tubular acidosis, subtype 2, i.e. hyporeninaemic hypoaldosteronism. We suggest that chronic renal disease may be a common complication of methylmalonic acidaemia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02072052
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  • 2
    Electronic Resource
    Electronic Resource
    Gyrate atrophy of the choroid and retina: decreased ornithine aminotransferase concentration in cultured skin fibroblasts from patients
    Amsterdam : Elsevier
    Clinica Chimica Acta 136 (1984), S. 29-37 
    Details
    ISSN: 0009-8981
    Keywords: Cultured fibroblast ; Enzyme immunoassay ; Gyrate atrophy of choroid and retina ; Ornithine aminotransferase
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0009-8981(84)90244-4
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  • 3
    Electronic Resource
    Electronic Resource
    Fibre bundle scanner for laser photocoagulation treatment
    Amsterdam : Elsevier
    Optics and Laser Technology 14 (1982), S. 39-40 
    Details
    ISSN: 0030-3992
    Keywords: cautery equipment ; fibre optics ; optical scanners
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Electrical Engineering, Measurement and Control Technology , Physics
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0030-3992(82)90067-6
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  • 4
    Electronic Resource
    Electronic Resource
    Mandibular lengthening by gradual distraction in humans (1995)
    Springer
    European journal of plastic surgery 18 (1995), S. 7-10 
    Details
    ISSN: 1435-0130
    Keywords: Lengthening mandible ; Gradual distraction ; Osteotomy ; Craniofacial microsomia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The purpose of this study was to evaluate human mandibular lengthening by gradual distraction. The operation was performed under nasoendotracheal anesthesia. After exposing the angle of the mandible through an intraoral incision, two half-pins were inserted on each side of the corticotomy line. Following this, a corticotomy was performed using a sagittal saw, and the mandible was gently fractured. The external bone lengthening device was applied leaving a bone gap of 3 mm. Serial distraction of 1 mm per day was started on the 10th postoperative day. The device was left in place for retention purposes for 9–11 weeks. Three patients (average age 10 years and 3 months) underwent this procedure. The distraction achieved was 19 mm. Postoperatively, improvement of facial asymmetry and increased volume and length of the mandible were noted without any perioperative complications. The follow-up period averaged 13 months. These results suggested that this procedure is beneficial for the treatment of craniofacial microsomia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00183690
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  • 5
    Electronic Resource
    Electronic Resource
    Reconstruction of the orbital region with the “blepharoplasty flap” (1996)
    Springer
    European journal of plastic surgery 19 (1996), S. 100-102 
    Details
    ISSN: 1435-0130
    Keywords: Orbital reconstruction ; Blepharoplasty ; Local flap ; Myocutaneous flap
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A modified technique of unipedicled orbicularis oculi myocutaneous flap raised along an upper or lower blepharoplasty incision line for reconstruction of the orbital region is described. This procedure provides excellent aesthetic improvement in older patients with a standard blepharoplasty being performed on the other eyelid.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00207925
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  • 6
    Electronic Resource
    Electronic Resource
    Reconstruction of iatrogenic dorsal skin defects of hands with reverse forearm flaps (1994)
    Springer
    European journal of plastic surgery 17 (1994), S. 104-105 
    Details
    ISSN: 1435-0130
    Keywords: latrogenic ulcer ; Forearm flap ; Reverse flap ; Hand reconstruction
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Distally based radial and ulnar forearm flaps were employed to reconstruct iatrogenic dorsal skin defects of hands in young children. The defects resulted from the extravasation of intravenous medication; flaps were required for reconstruction because the extensor tendons were exposed in the base of the ulcer in Case 1 and were involved in dense scar tissue in Case 2. The reverse forearm flap is an easy and reliable technique requiring short operating time, and it allows initiation of early physiotherapy compared with the other techniques, such as free flap or an abdominal flap.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00176927
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  • 7
    Electronic Resource
    Electronic Resource
    Vertical lengthening of the unilateral cleft lip after a triangular flap repair (1993)
    Springer
    European journal of plastic surgery 16 (1993), S. 217-220 
    Details
    ISSN: 1435-0130
    Keywords: Unilateral cleft lip ; Triangular flap repair ; Overlengthening ; Intraoperative planning
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A triangular flap repair for unilateral cleft lip is stated to have the potential problem of creating a lip that is too long. Although preoperative measurements were performed with calipers, the gap created in the medial segment was directly measured during the procedure, in order to determine the size of the flap more precisely. Ninety patients with complete unilateral cleft lips underwent a triangular flap repair using this method. The symmetry of the Cupid's bow was evaluated at a follow-up period averaging between six years and three months. Sixty-two lips obtained “symmetry” and the remaining 28 cases showed a lip which was “too long”; none of the lips were “too short”. The comparison between 27 primary palate clefts (UCLA) and 63 primary and secondary palate clefts (UCLP) showed no significant difference in the surgical result. The preoperative shortness of the lip on the cleft side was significantly greater in the “too long” group (5.01 ± 0.95 mm) than in the “symmetry” group (4.40 ± 0.87 mm). The width of the flap used was significantly larger in the “too long” group (3.76 ± 0.79 mm) than in the “symmetry” group (3.42 ± 0.69 mm). The triangular flap repair with intraoperative measurements is considered to be beneficial, although preoperative measurements provide an optimal design in most cases. It is suggested that the use of a wider triangular flap results in a lip which tends to be too long in spite of the preoperative shortness on the cleft side.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00175688
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  • 8
    Electronic Resource
    Electronic Resource
    Three independent mutations in the same exon of thePCCB gene: Differences between Caucasian and Japanese propionic acidaemia (1993)
    Springer
    Journal of inherited metabolic disease 16 (1993), S. 353-360 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Propionic acidaemia is an inborn error of organic acid metabolism caused by deficiency of propionyl-CoA carboxylase (PCC). Enzyme deficiency can result from mutations in either of the non-identical α- and β-subunits. We have screened genomic DNA from patients with defects in the β-subunit from two ethnic groups (Caucasians and Japanese) and detected three types of mutations in the same exon of the coding sequence of the β-subunit: an insertion/deletion that replaces 14 nucleotides with 12 nucleotides of unrelated sequence and eliminates anMsp I site; a 3-bp deletion of a single isoleucine codon immediately proximal to thatMsp I site; and a C → T transition in the sameMsp I site. The insertion/deletion was detected only in Caucasian patients in 11 of 34 mutant alleles; the C → T transition was found only in Japanese patients in 4 of 12 mutant alleles. Following digestion of genomic DNA byMsp I, both of these mutations were detected on Southern blots by the presence of a 2.7-kbp band; they can be distinguished from one another by allele-specific oligonucleotide hybridization following PCR amplification. These results underscore the independent origin of the mutations in the two populations and suggest a key role of this exon in the β-subunit of PCC.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00710282
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  • 9
    Electronic Resource
    Electronic Resource
    Restriction fragment length polymorphisms among Japanese detected with a dihydropteridine reductase cDNA gene probe (1990)
    Springer
    Journal of inherited metabolic disease 13 (1990), S. 873-878 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Using a human dihydropteridine reductase (DHPR) cDNA, the frequency of restriction fragment length polymorphisms (RFLPs) with restriction endonucleases AvaII, MspI, NcoI and HinfI was estimated in unrelated, unaffected Japanese. The allele frequencies are different from those found in Caucasians, especially with MspI and HinfI. However, approximately 60% of Japanese are heterozygous for at least one of the RFLPs and analysis of one family with DHPR deficiency was shown to be informative. RFLP linkage analysis will be useful in the Japanese population as previously reported for Caucasians.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01800212
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  • 10
    Electronic Resource
    Electronic Resource
    Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics (1999)
    Springer
    Journal of inherited metabolic disease 22 (1999), S. 74-80 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Wilson disease (WD) is an autosomal recessive disorder of copper accumulation leading to liver and/or brain damage. In this paper, we describe the results of a pilot study of screening for WD using ceruloplasmin determinations in dried blood samples. Specimens were collected from children aged 1 to 6 years who were seen at local paediatric outpatient clinics in the Miyagi Prefecture. We measured ceruloplasmin (CP) concentrations in 2789 children using an enzyme-linked immunosorbent assay. The mean value was 12.4±3.95 mg/dl blood. Among these children, we identified two (case 1, male, 2 years old; case 2, female, 3 years old) with markedly reduced CP concentrations. Apart from low serum copper concentrations, their biochemical findings were almost normal, as were growth and development. To confirm the diagnosis, we analysed the WD gene and detected A803T/2871delC mutations in case 1 and R778L/G1035V mutations in case 2. We conclude that these children were presymptomatic WD patients. The CP level in dried blood samples from children aged 1 to 6 years appears to be a reliable marker for early detection of WD.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005455401076
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