BACKGROUND: Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is the most common orofacial birth defect with an aetiology involving both genetic and environmental factors. Genome-wide association studies (GWAS) have identified several genomic susceptibility regions for nsCL/P. In the present study, the three well established single nucleotide polymorphisms (SNPs) identified by GWAS (rs987525 at 8q24, rs7078160 at 10q25, and rs227731 at 17q22 loci) and one SNP identified by candidate gene study (rs642961 in IRF6 gene at 1q32 locus) were analysed for an association with nsCL/P in Slovak population. METHODS: Nucleotide variants were genotyped in 165 nsCL/P patients and 326 unaffected controls. All variants of interest were genotyped using high-resolution melting analysis after real-time PCR. RESULTS: We found significant differences between patient and control groups with respect to the allele and genotype frequencies for the SNPs at the 1q32, 8q24, and 17q22 loci. SNP at the 10q25 locus showed a trend toward association with nsCL/P risk. CONCLUSIONS: The results suggest that SNPs at the 1q32, 8q24 and 17q22 loci may contribute to the nsCL/P risk in Slovak population.

• MeSH
• celogenomová asociační studie MeSH
• genetická predispozice k nemoci * MeSH
• genotyp MeSH
• jednonukleotidový polymorfismus MeSH
• lidé MeSH
• rozštěp patra genetika   MeSH
• rozštěp rtu genetika   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH

• MeSH
• kapsulární kontraktura MeSH
• kolagen terapeutické užití   MeSH
• lidé MeSH
• mamoplastika * metody   využití   MeSH
• plastická chirurgie metody   využití   MeSH
• prsy * chirurgie   MeSH
• výsledky a postupy - zhodnocení (zdravotní péče) MeSH
• zákroky plastické chirurgie metody   využití   MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• abstrakt z konference MeSH
• práce podpořená grantem MeSH

• MeSH
• angiografie MeSH
• chirurgické laloky * krevní zásobení   využití   MeSH
• lidé MeSH
• nekróza MeSH
• počítačová rentgenová tomografie MeSH
• pooperační komplikace MeSH
• předoperační péče MeSH
• volné tkáňové laloky krevní zásobení   využití   MeSH
• zákroky plastické chirurgie * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• abstrakt z konference MeSH

• Publikační typ
• abstrakt z konference MeSH

• Publikační typ
• abstrakt z konference MeSH

• Publikační typ
• abstrakt z konference MeSH

• Publikační typ
• abstrakt z konference MeSH

• Publikační typ
• abstrakty MeSH

Patients with impaired continuity of the upper gastrointestinal tract are dependent on gastrostomy or jejunostomy tube feeds, which significantly reduce their quality of life. Reconstruction of the hypopharynx and esophagus is desirable in cases of congenital deformities, corrosive injuries, or defects after tumor resections. Free flap allows for easier reconstruction of head and neck defects. In this article, the authors present a case of complete hypopharynx closure in an oncology patient with a larynx carcinoma. The patient is a 60-year-old male diagnosed in 2002 with epidermoid carcinoma of larynx. The patient underwent laser resection of the tumor followed by radiotherapy and chemotherapy. In 2003 the patient underwent pharyngo – laryngectomy for relapse of the larynx carcinoma. Postoperatively the patient developed pharyngo – cutaneous fistula, which was reconstructed at the otorhinolaryngology department by a muscle – cutaneous flap from the pectoralis major muscle. During the course of healing the patient developed complete hypopharynx and cervical esophagus closure. Free flap of jejunum was recommended. The surgery team used a 10 cm long section of jejunum; the recipient blood vessels were arteria transversa colli and internal jugular vein. On the second day after the surgery patient developed salivary fistula in the wound. The fistula healed spontaneously in five weeks. Pharyngoscopy revealed that the transplanted jejunum was fully vital. Free flap of the jejunum allowed for upper gastrointestinal tract reconstruction and allowed the patient to restart peroral intake.

• MeSH
• chirurgické laloky využití   MeSH
• ezofágoplastika metody   využití   MeSH
• hypofarynx chirurgie   MeSH
• jejunum chirurgie   MeSH
• lidé MeSH
• nádory hrtanu chirurgie   komplikace   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH

Orofacial clefts are common congenital anomalies. The aim of this study was to assess the incidence in Western Slovakia. The study material were the case records of infants from the Bratislava and Western Slovakia regions, born between 1985 and 2000, and operated on in the Department of Plastic Surgery, Faculty of Medicine, Commenius University, General Hospital Ružinov, in Bratislava. Of 409,205 live births in this period, 670 children were born with OC (orofacial clefts) and operated in the abovementioned department. This study found a total incidence of 1.64/1000 live births. Compared to the Western Slovakia region, the incidence was higher in Bratislava. Of the different types of OC, CLP was the commonest, with a male preponderance of OC at the rate of 1.16:1. The available data showed significant differences of clefts in some of the studied districts, which could be a base for an intensive follow-up of endemic (genetic and exogenous) factors.

• MeSH
• lidé MeSH
• plastická chirurgie metody   MeSH
• rozštěp patra epidemiologie   chirurgie   MeSH
• rozštěp rtu epidemiologie   chirurgie   MeSH
• Check Tag
• lidé MeSH
• Geografické názvy
• Slovenská republika MeSH