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  • 1
    Electronic Resource
    Electronic Resource
    Factor VIII gene polymorphisms in the Asian Indian population (2000)
    Oxford UK : Blackwell Science Ltd
    Haemophilia 6 (2000), S. 0 
    Details
    ISSN: 1365-2516
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Little is known about the heterozygous frequency of factor VIII gene markers in the Asian Indian population. The objective of this study was to establish the heterozygous frequency of polymorphic markers within and flanking the factor VIII gene in Indians and identify those most informative for carrier screening and prenatal diagnosis.Factor VIII gene polymorphism analysis at intragenic and extragenic sites was carried out by the polymerase chain reaction (PCR) method and Southern blot procedure. Sixty-three Asian Indian haemophiliacs and their families were screened. A control group of 150 women from nonhaemophilic families were screened for two markers, HindIII and BclI.Among the intragenic markers studied, the HindIII restriction fragment length polymorphism (RFLP) showed the highest heterozygous frequency (0.52) followed by the intron 13 (0.47) and intron 22 (0.44) short tandem repeats (STRs). Among extragenic markers, TaqI had the highest heterozygous frequency (0.75) followed by BglII (0.54). The intron 22 inversion mutation was observed in eight (40%) of 20 severe cases.In the population studied the most diagnostic polymorphisms were the intragenic markers, intron 22 (70%) STR followed by the intron 13 (52%) STR and HindIII (52%) RFLP, and the TaqI (50%) extragenic marker. Application of HindIII, BclI and the intron 22 dinucleotide repeat combined were diagnostic in 87.2% of haemophilia A families studied.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2516.2000.00442.x
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  • 2
    Electronic Resource
    Electronic Resource
    Primary hyperparathyroidism in children (1996)
    Springer
    Pediatric surgery international 11 (1996), S. 374-377 
    Details
    ISSN: 1437-9813
    Keywords: Primary hyperparathyroidism ; Childhood ; Parathyroid adenoma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Primary hyperparathyroidism is an uncommon condition in childhood that is easily amenable to surgical treatment with excellent results. Pathologically, the parathyroid glands may show generalized hyperplasia or, more commonly, adenoma formation, the latter frequently being seen in adolescence. Two girls with solitary parathyroid adenomas and predominantly skeletal manifestations resembling rickets are reported, underlining the need to suspect and appropriately investigate these children. The literature on the subject is reviewed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00497816
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  • 3
    Electronic Resource
    Electronic Resource
    Nesidioblastosis in infants: report of two cases and review of the literature (1991)
    Springer
    Pediatric surgery international 6 (1991), S. 365-367 
    Details
    ISSN: 1437-9813
    Keywords: Nesidioblastosis ; Persistent nonketotic hyperinsulinaemic hypoglycaemia ; Near-total pancreatectomy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In the last 2 years, two newborns were found to have persistent hypoglycaemia due to nesidioblastosis. Both required more than 15 mg/kg/min IV glucose and had inappropriately high plasma insulin levels. Near-total pancreatectomy (NTP) with splenic conservation was curative in both, with negligible morbidity and no mortality. Prompt diagnosis and stringent control of plasma glucose with hourly monitoring in an intensive care unit, use of a central venous line, and oral diazoxide prevented subsequent neurological handicaps. A high index of suspicion for this rare disorder should be kept in mind in a chubby infant who is jittery, apathetic, and has seizures with hypoglycaemia. Medical management is required to confirm the nonketotic, hyperinsulinaemic hypoglycaemia, whereas NTP provides a long-term cure.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00178659
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    Paper (German National Licenses)
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