A giant osteochondroma in a boy with multiple exostoses.

Hereditary multiple exostoses (HME) is an inherited autosomal dominant disorder characterised by the presence of multiple exostoses, in fact benign cartilaginous tumors (enchondromata on the long bones). A six-year-old boy was found to have multiple osteochondromas on the legs, arms and ribs. Unusually, one of the osteochondromas on the right arm was huge (5 x 6 cm) and painful.

Ceftriaxone associated urolithiasis in a child with hypercalciuria.

We present a 5-year-old boy with pneumonia who complained of right lumbar pain on the 7(th) day of treatment with Ceftriaxone. Ultrasound examination revealed mild to moderate right hydronephrosis. Under spasmoanalgetic therapy and hydration there was spontaneous passage of three small calculi.

Four generations in a family with neurofibromatosis 1: precocious puberty and optic nerve tumor (OPT).

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with varied clinical manifestations. The proband is a 6-year-old boy with signs of precocious puberty. His penis was 10 cm, testicles 8 ml, pubic hair P2-3, and the genital skin was hyperpigmented.

Childhood craniopharyngioma in Macedonia: incidence and outcome after subtotal resection and cranial irradiation.

Background: craniopharyngioma is a frequent tumor in children with challenging surgical, endocrine, and visual consequences. We evaluated our experience in treating craniopharyngioma and its incidence in Macedonia.

Methods: Thirteen children (9 male and 4 female) with craniopharyngioma (age 9.

Papillorenal syndrome after Beta-interferon treatment in pregnancy.

Papillo-Renal Syndrome (PRS, or Renal-Coloboma Syndrome) is an autosomal dominant disorder, characterized by colobomatous eye defects, abnormal vascular pattern of the optic disk, renal hypoplasia, vesicoureteral reflux, high-frequency hearing loss, and sometimes central nervous system (CNS) abnormalities. The syndrome is associated with mutations in the PAX2 gene. This 11-year-old girl's mother was treated with beta-interferon (IFNbeta-1a) for multiple sclerosis (MS) during the pregnancy.

Type I Gaucher disease (GDI) in three siblings: enzyme replacement treatment (ERT) required.

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A case of Silver-Russell syndrome (SRS): multiple pituitary hormone deficiency, lack of H19 hypomethylation and favourable growth hormone (GH) treatment response.

Hypomethylation of the imprinting control region 1 (ICR1) at the IGF2/H19 locus on 11p15 is linked to Silver-Russell syndrome (SRS) and/or hemihypertrophy. This SRS patient was born in term with weight of 3500 g (50 percentile) and length 48 cm (1 SD below the mean). He was first noticed at the age of 10 years for short stature (114.

Tensile bond strength of a light-cured glass ionomer cement when used for bracket bonding under different conditions: an in vitro study.

The purpose of this study was to investigate the tensile bond strength of a new light-cured resin reinforced glass ionomer cement (Fuji Ortho LC), following the bonding of stainless steel brackets to 40 extracted human premolar teeth under four different enamel surface conditions: (1) non-etched, moistened with water; (2) etched, moistened with water; (3) etched, moistened with human saliva; and (4) etched, moistened with human plasma. The etched surface produced a higher bond strength than the non-etched surface when contaminated with distilled water. Contamination with human saliva resulted in a further increase in bond strength whilst plasma contamination produced an even higher strength.