Papillary thyroid carcinoma in a boy with familial tuberous sclerosis complex attributable to a TSC2 deletion-a case report.

Tuberous sclerosis complex (tsc), a phacomatosis, is a rare genetic disease (autosomal dominant; incidence: 1 in 6,800-17,300) associated with mutations in the TSC1 and TSC2 genes, 70% of which are sporadic. The disease causes benign tumours in the brain, kidneys, heart, lungs, skin, and eyes; thyroid lesions are extremely rare. A 13-year-old euthyroid boy with a hereditary form of tsc (del 4730G in TSC2, also seen in 2 sisters and the father) was admitted to hospital with a thyroid nodule. Physical examination revealed a nodular left lobe with increased consistency. Thyroid ultrasonography revealed a heterogeneous left lobe, predominantly hypoechoic with multiple microcalcifications and the presence of suspicious cervical lymph nodes on the left side. A macrocalcification was observed on the right lobe. Fine-needle biopsy results showed a few groups of cells with discrete atypical characteristics, including abundant cytoplasm, nuclei with conspicuous nucleoli, intra-nuclear inclusions, and nuclear grooves. The patient underwent total thyroidectomy with lymphadenectomy. Histopathology examination confirmed papillary thyroid carcinoma. The coincidence of endocrine neoplasia including thyroid cancer and tsc is rare, and tsc with papillary thyroid carcinoma has never been described in a child. Studies of mutations in the tumour suppressor genes TSC1, TSC2, and STK11, activating the mtor (mammalian target of rapamycin) pathway, might support their role in the pathogenesis of thyroid cancer.

Effect of three common SNPs in 5'-flanking region of LEP and ADIPOQ genes on their expression in Polish obese children and adolescents.

Genes encoding adipokines are considered as candidates for human obesity. In this study we analyzed the expression of leptin (LEP) and adiponectin (ADIPOQ) genes in relation to common 5'-flanking or 5'UTR variants: -2548G>A (LEP), 19A>G (LEP) and -11377C>G (ADIPOQ) in Polish obese children and adolescents. Relative transcription levels in the subcutaneous adipose tissue (real time RT-PCR) and serum protein concentrations (RIA) were measured in 48 obese subjects with known genotypes at three polymorphic sites and in five non-obese controls. None of the studied polymorphisms altered significantly the expression. Significantly elevated relative transcription levels of the LEP gene (P < 0.05) and serum leptin concentrations (P < 0.01) were recorded in obese patients, when compared with the non-obese controls, but such differences were not found for the ADIPOQ gene. Interestingly, the leptin to adiponectin protein concentration ratio (L/A) was approximately sevenfold higher in obese children and adolescents when compared with the non-obese controls (P < 0.001). Taking into consideration the observed relationship between the genotypes and the gene expression level we suggest that these SNPs are not conclusive markers for predisposition to obesity in Polish children and adolescents. On the other hand, we confirmed that the leptin to adiponectin gene expression ratio (L/A) is an informative index characterizing obesity.

Comparison of the results of operative and conservative treatment of deep dermal partial-thickness scalds in children.

Deep dermal partial-thickness scalds remain one of the most common types of injuries in childhood. Local treatment of those wounds, alternatively described as IIb degree, is still very controversial. Some authors advise conservative treatment of such wounds, pointing to their ability to self-reepithelialise, which is possible but significantly prolonged. Other investigators postulate operative treatment, i.e., tangential necrectomy and split-thickness autologous skin grafting, which may shorten the time of wound healing. Arguments call for contra-arguments, and the problem still seems to be unresolved. There is indeed a lack of acceptable standardisation of the local treatment for deep dermal partial-thickness scalds in the paediatric population. The results of both conservative and operative treatment of 114 children aged between 3 months and 17 years, treated for deep dermal partial-thickness scalds from 1997 to 2004 are presented. The treatment of five groups of patients, divided into groups based on the extent of their burn wounds, is evaluated. The patients were treated by tangential necrectomy and skin grafting, mechanical dermabrasion, Granuflex(R) (Convatec) hydrocolloid dressings, Iruxol Mono(R) (Knoll) enzymatic dressings, or Aquacel Ag(R) (Convatec) hydrofibre dressings with silver ions. A number of parameters of wound healing were analysed. The results of this paper encouraged us to present and discuss a proposition for the standardisation of local treatment of deep dermal partial-thickness burn wounds in the paediatric population, according to the extent of injury.

[Treatment of varicocele with laparoscopy]. / Leczenie zylaków powrózka nasiennego metoda laparoskopowa.

To assess the efficacy of laparoscopic techniques for the operative therapy of varicocele in children and adolescents. Thirty-two children and adolescents who underwent laparoscopic varicocelectomy, between May 1995 to December 1997 were evaluated. In all patients laparoscopic therapy was effective and no major complications occurred. The laparoscopic technique is minimally invasive operation with optimal results.