Genetic association of the serotonin transporter in pulmonary arterial hypertension

RATIONALE: The bone morphogenetic receptor type II gene is the major genetic determinant for the inherited form of pulmonary arterial hypertension. However, deleterious mutations of this gene are not observed in the majority of subjects who develop the condition spontaneously and familial disease displays age- and sex-dependent penetrance, indicating the requirement for additional environmental and/or genetic modifiers for disease development. METHODS: We investigated polymorphic variation of the serotonin transporter gene, a biological candidate for predisposition to this vascular disorder. RESULTS: No significant evidence of association between alleles of the serotonin transporter gene and pulmonary hypertension was detected, nor did we observe a relationship with age of onset in familial and idiopathic disease. CONCLUSIONS: Variation of the serotonin transporter gene appears unlikely to confer significant susceptibility to pulmonary arterial hypertension. This study emphasizes the need for adequately powered cohorts for association analyses to identify not only genetic determinants of disease susceptibility but also inherited modifiers for disease development.     

Giant osteoma of the ethmoid and frontal sinuses

The authors present a case of a huge osteoma of the ethmoid and frontal sinuses. An operative technique enabling radical removal without fragmentation of the tumor with preservation of the bony margins of the fronto-orbital region was presented.     

Congenital lesions of the external nose

Congenital lesions of the external nose appear during embryologic development. Their usual location is midline nasal area. The most common are dermoid cyst, glioma, encephalocele and meningocele. The histopatology confirms dermoid cyst in 60%. Diagnosis is based mainly on clinical examination of the patient. Computer tomography and magnetic resonance are useful to reveal the pathway of intracranial herniation or presence of associated anomalies of the cranial bones. A complete surgical removal of the lesion is the only effective treatment. In Plastic Surgery Clinic in Lodz, 20 patients 2-20 years old were operated between the years 1973-2004. Treatment consisted of simple surgical excision of the nasal lesion. The dermoid cyst was diagnosed in 55%. In 3 cases, where herniations were observed, a preparation and simple ligature was performed. The results of all operations were satisfactory. Congenital lesion of the external nose should be considered as dermoid cyst, glioma, encephalocele or meningocele. Complete excision is very important. Deformations of the nose after surgery are to be corrected after the facial skull growth process ends.     

Evaluation of adenoid mast cells in children with secretory otitis media

Mast cells may play a role in pathogenesis of the otitis media with effusion (OME) in children. The study involved 72 children with no history of allergic diseases. The analysed material were adenoids removed on the grounds of hypertrophy. Immunohistochemical analyses were carried out using antibodies (Dako, M 7052) directed against mast cell tryptase. The slides evaluation was performed by means of optic microscope. The presence of mast cells within adenoidal tissue were scored. There were no statistically significant difference between the numbers of mast cells in each examined adenoid as well as age groups. Our results correspond with those obtained by other authors according to mast cells distribution in adenoid tissue and do not indicate any particular role of mast cells in pathogenesis of OME in children.     

Spontaneous rupture of common iliac artery after hysterectomy for malignant gynecologic tumor

Authors described a serious, iatrogenic, vessel complications after hysterectomy for uterus sarcoma. After successful abdominal hysterectomy spontaneous rupture of right common iliac artery occurred causing massive exsanguination into intraperitoneal space. During secondary laparotomy procedure large, partial loss of arterial wall was recognized and provided with non-absorbable Prolene 4-0 suture. Subsequently, the injury was replaced by arterial artificial prosthesis gore-tec 8. Intraoperatively, ventricular fibrillation and cardiac arrest took place with subsequent acute respiratory and circulatory distress syndrome. Throughout next several days after reoperation patient was deep unconscious and hospitalized on Intensive Care Unit. She manifested symptoms of damaged extrapyramidal tracts. In spite of further unfavourable prognosis, after almost a month of respiratory therapy, she fully recovered without symptoms of brain damage and visual sequelae.     

Fetal and maternal non-glucose carbohydrates and polyols concentrations in normal human pregnancies at term

The objective of the present investigation was to determine fetal and maternal plasma concentrations of nonglucose carbohydrates and polyols in normal human pregnancies at term. Uncomplicated human pregnancies (n = 50) were studied at > or =37 wk gestation. Blood samples were obtained from umbilical artery, umbilical vein, and maternal peripheral blood at the time of elective cesarean section. Plasma concentrations of inositol, glycerol, erythritol, sorbitol, and mannose were determined by HPLC analysis. Differences between umbilical venous, umbilical arterial, and maternal concentration were tested by the two-tailed t test for paired samples. Correlations between umbilical and maternal concentration and between umbilical venoarterial concentration difference and umbilical arterial concentration were assessed by Pearson's correlation and multiple regression analysis. All newborns were appropriate for gestational age, and oxygenation and acid-base balance were within the normal range for all fetuses studied. For most of the polyols (inositol, sorbitol, and erythritol), the fetal concentration was significantly higher than the maternal concentration. The umbilical venoarterial concentration difference for inositol was -10.5 +/- 3.6 microM, for glycerol was 10 +/- 1.7 microM, for sorbitol was 3.8 +/- 0.5 microM (p < 0.001), and for mannose was 7.6 +/- 0.7 microM. There was a significant correlation between maternal concentration and umbilical venous concentration of mannose (UV(MAN) = 15.38 + 0.69 M(MAN); R(2) = 0.46; p < 0.001). These results indicate that in normal human pregnancies at term, inositol is produced by the fetus, sorbitol is produced by the placenta, and there is a significant umbilical uptake of mannose from the maternal circulation.     

Treatment results of treatment for congenital, unilateral microcoria and pupil displacement--case report

The purpose of this report was to present rarely occurring developmental anomaly of congenital unilateral microcoria and pupil displacement. We present a case of a boy, who underwent a plastic surgery of pupil at age of 3 year. Despite of relatively tardy onset of treatment and existing profound amblyopia (light perception with projection), a full vision recovery was achieved after 4 years of occlusion therapy.