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211.
Age and sex need to be considered in the establishment of reference intervals (RIs), especially in early life when there are dynamic physiological changes. Since data for important biomarkers in healthy neonates and infants are limited, particularly in Iranian populations, we have determined age-specific RIs for 7 laboratory biochemical parameters. This cross-sectional study comprised a total of 344 paediatric participants (males: 158, females: 186) between the ages of 3 days and 30 months (mean age: 12.91 ± 7.15 months). Serum levels of creatinine, urea, uric acid, calcium, phosphate, vitamin D and high-sensitivity C-reactive protein (hs-CRP) were measured using an Alpha classic-AT plus auto-analyser. We determined age-specific RIs using CLSI Ep28-A3 and C28-A3 guidelines. No sex partitioning was required for any of the biomarkers. Age partitioning was required for kidney function tests and phosphate. The serum concentration of urea and creatinine increased with age, while phosphate and uric acid decreased with age. Age partitioning was not required for serum calcium, vitamin D, and hs-CRP, which remained relatively constant throughout the age range. Age-specific RIs for 7 routine biochemical markers were determined to address critical gaps in RIs in early life to help improve clinical interpretation of blood test results in young children, including neonates. Established age partitions demonstrate the biochemical changes that take place during child growth and development. These novel data will ultimately better disease management in the Iranian paediatric population and can be of value to clinical and hospital laboratories with similar populations.  相似文献   
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Penile incarceration is uncommon. The diagnosis is obvious, but extraction of the constrictive ring and repair of the damage can be challenging. The authors present the case of a 61-year-old man wh presented with pain and swelling of the penis 3 weeks after applying a metal ring (double key rings) at the base of penis for the purposes of self-mutilation. The key ring was removed immediately under local anaesthesia. One week later, a urethral fistula was observed, requiring suprapubic cystostomy. It was decided to perform secondary surgical closure of the fistula and reconstruction of the skin of the base of the penis after treatment of local sepsis. Penile incarceration should be considered to be an emergency, as the more rapidly the constrictive object is removed, the lower the risk of complications secondary to penile devascularization, urinary retention and urethral damage. The authors review the literature concerning this unusual injury and its management.  相似文献   
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Persistent mullerian duct syndrome is a relatively rare inherited defect of sexual differentiation characterised by failure of regression of the mullerian ducts in males. In affected individuals, the uterus and tubes are present due to a defect of synthesis or action of antimullerian hormone normally produced by testicular Sertoli cells. The authors report four cases with a mean age of 20 years. All patients were phenotypically normal males, with bilateral cryptorchidism in two cases and unilateral irreducible inguinal mass in the other two cases. The mullerian ducts were removed in two cases and left in place in two cases as they were intimately adherent to the vas deferens. Long-term follow-up was decided due to the risk of malignant transformation of these remnants recently described in literature. According to the authors, the best management of these structures is excision and orchidopexy. In the case of adult infertility with testicular atrophy, gonadectomy and androgen replacement therapy are recommended.  相似文献   
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Strychnine and brucine, two related alkaloids that occur in plants belonging to theStrychnos species, were shown to have opposing effects on the elongation of the radicle of lettuce seeds. Strychnine was found to be inhibitory, whereas brucine was found to be stimulating to radicle elongation. Alkaloids, generally, are more commonly known for their inhibitory effects on plant growth rather than on their stimulating effects.Paper No. 2435 of the Journal Series of the South Dakota Agricultural Experiment Station, Brookings, South Dakota, USA.  相似文献   
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Usher syndrome (US) is an autosomal recessive disease characterized by congenital hearing impairment and retinitis pigmentosa. It is the most frequent cause of deaf-blindness in adults and accounts for 3 to 6% of deaf children. Here, we report the genetic mapping of a gene for US type I (USH1A), the most severe form of the disease, to the long arm of chromosome 14, by linkage to probe MLJ14 at the D14S13 locus in 10 families of Western France ancestry (Z = 4.13 at theta = 0). Among them, 8 families originated from a small area of the Poitou-Charentes region (Z = 3.78 at theta = 0), suggesting that a founder effect could be involved. However, since not all US type I families were found to be linked to this locus, the present study provides evidence for genetic heterogeneity of this condition (heterogeneity versus homogeneity test HOMOG, P < 0.05; heterogeneity versus no linkage, P < 0.01).  相似文献   
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