Turner syndrome (TS) is characterized by the partial or complete loss of one sex chromosome and results in growth failure, gonadal insufficiency and cardiac anomalies. Treatment with growth hormone (GH) during childhood has indisputable benefits when taking into account the low stature of TS women. Medical records and biochemical findings of 33 TS women treated with GH in childhood (GH+) were compared to those of 124 TS women who did not receive GH (GH−). It seems that the GH-treated group might have had a more severe initial phenotype than the untreated group, as evidenced by higher FSH, more feeding issues in infancy, more lymphedema cases and urinary system malformations. GH+ women were significantly taller and had a better lipid profile and lower prevalence of arterial hypertension than GH− . However, they also had lower thrombocyte counts, a greater prevalence of retrognathism and nail anomalies, especially when the GH treatment was delayed. Long-term GH use was not as effective for growth as GH treatment during the initial period and seemed to have resulted in elevated creatinine levels. GH treatment in childhood has benefits in adulthood; however, adverse effects may occur, especially in individuals with treatment that is delayed or is too long.
The aim of this paper is to present our results and experience in the treatment of snoring using the non-ablative Erbium: Yttrium Aluminum Garnet (Er:YAG) laser. Twenty-four patients (18 male and 6 female) with snoring problems due to soft palate hypertrophy were treated with 3 treatment procedures with Er:YAG 2940-nm laser (long pulse mode, 10 Hz, fluence 1.8-2.0 J/cm 2) performed at 2-week intervals. The treatment procedures were performed in outpatient settings. One treatment session lasts 15-20 min. Subjective (questionnaires) and objective (polygraph) outcome measures were assessed at baseline and 3 months after the final laser treatment. Wilcoxon Signed Rank was used to compare before and after scores. All polygraph variables showed some improvement 3 months after the end of treatment; however, only the reduction of the number of hypopnea episodes per hour was statistically significant (p = 0.034). In 13/24 patients, snoring time accounted for less than 5% of the sleep time after the treatment compared to 6/24 patients at baseline. The questionnaire survey showed statistically significant improvement in the quality of sleep and life of the patients as well as their partners after Er:YAG treatment (p < 0.001). The assessment of daytime sleepiness using the Epworth scale also improved 3 months after the end of treatment (p = 0.010). Based on our observations, the treatment of snoring with the Er:YAG laser is an effective and non-invasive therapeutic method. Further studies with long-term follow-up and a control group are warranted to confirm the promising results obtained in case series.
Introduction: Turner syndrome (TS) is due to a chromosomal abnormality in which only one normal X chromosome is present. The purpose of the study was the assessment the prevalence of phenotypic differences in TS-women and monosomy-45,X and with other karyotypes as well as the possible relationship between the presence of differentiating features and age at final TS diagnosis. Material and methods: The prevalence of anomalies and abnormalities from history taking/physical examination of 157 TS-patients was compared to 25 healthy controls (age 27.3 ± 4.5 years). The age at TS-symptom occurrence and final TS diagnosis was also analysed.
INTRODUCTION: Turner syndrome (TS) is a chromosomal aberration in which a female is partly or completely missing an X chromosome. TS is manifested by a wide range of chromosomal karyotypes and clinical phenotypes. TS women may develop a variety of physical features also regarding craniofacial morphology. AIM: The aim was to conduct a review of literature on TS associated craniofacial anomalies as revealed on history taking and physical examination, as well as to evaluate the prevalence of these anomalies in the Polish TS population with different karyotypes. MATERIAL AND METHODS: A review of 1989-2017 MEDLINE resources on craniofacial anomalies in women with TS was conducted. The head circumference was measured and the prevalence of selected craniofacial features was assessed in 93 TS women with 45,X monosomy and 64 TS women with other karyotypes. RESULTS: Significant discrepancies were identified between literature reports with respect to the prevalence and severity of TS associated features in the craniofacial region. Nevertheless, the most common features include retrognathism, a high-arched palate and related feeding problems in infancy as well as a lower prevalence of abnormal dental development compared to the general population. A significantly larger head circumference was the only feature differentiating TS women with 45,X monosomy from those with other karyotypes. CONCLUSIONS: 1. Retrognathism, a high-arched palate and patients' reports on feeding problems in infancy might serve as key indicators of TS; 2. The literature review and analysis of the prevalence of TS associated craniofacial features are not suggestive of a relationship between these features and a particular karyotype.
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