mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.

Smith-Kingsmore syndrome (SKS) OMIM #616638, also known as MINDS syndrome (ORPHA 457485), is a rare autosomal dominant disorder reported so far in 23 patients. SKS is characterized by intellectual disability, macrocephaly/hemi/megalencephaly, and seizures. It is also associated with a pattern of facial dysmorphology and other non-neurological features. Germline or mosaic mutations of the mTOR gene have been detected in all patients. The mTOR gene is a key regulator of cell growth, cell proliferation, protein synthesis and synaptic plasticity, and the mTOR pathway (PI3K-AKT-mTOR) is highly regulated and critical for cell survival and apoptosis. Mutations in different genes in this pathway result in known rare diseases implicated in hemi/megalencephaly with epilepsy, as the tuberous sclerosis complex caused by mutations in TSC1 and TSC2, or the PIK3CA-related overgrowth spectrum (PROS). We here present 4 new cases of SKS, review all clinical and molecular aspects of this disorder, as well as some characteristics of the patients with only brain mTOR somatic mutations.

Transvaginal sonography in endometrial carcinoma: preoperative assessment of the depth of myometrial invasion in 50 cases.

OBJECTIVE: A prospective study was designed for patients previously diagnosed of endometrial carcinoma to evaluate the accuracy of transvaginal sonography (TVS) in determining both the presence and the depth of myometrial invasion. Patients with advanced stage disease (III and IV) were specifically excluded from the analysis. SUBJECTS AND METHODS: Sixty patients with endometrial carcinoma underwent transvaginal ultrasonography. Ten of these patients were ruled out due to various reasons. In the remaining 50 cases, TVS findings were compared with those obtained after total abdominal hysterectomy and bilateral salpingo-oophorectomy (AHT). RESULTS: The sensitivity of TVS in detecting deep invasion, i.e. more than 50% of the myometrial thickness was 94.1%, while the specificity was 84.8% and the overall accuracy was 88%. Following the classification of the International Federation of Obstetrics and Gynecology, stage I, which divides myometrial invasion into three categories (none, superficial involvement and deep invasion) sensitivity was 66.2%, specificity was 83.1% and overall accuracy was 77.2%. CONCLUSION: These findings are consistent with those reported in literature with regard to overall accuracy of TVS. Results are similar to those obtained with magnetic resonance imaging (MRI) without contrast and slightly lower than MRI plus contrast.

[The state and aims of physician continuing education in the field of nutrition hygiene]. / Sostoianie i zadachi poslediplomnoi podgotovki vrachei po gigiene pitaniia.

In article clause the brief characteristic of a condition post-diploma of preparation of the doctors on hygiene of feed now is given and the tasks are put in field of their training in the future.

[Hygienic evaluation of actual nutrition and health status of sales personnel in the city of Artem]. / Gigienicheskaia otsenka fakticheskogo pitaniia i sostoianiia zdorov'ia rabotnikov torgovli g. Artema.

Actual nutrition of saleswomen was studied in the town of Artem (Primorye territory), characterized by unfavorable demographic values. Fifty-two women aged 30-39 years were examined, all of them living in the region for at least 3 years and engaged in foodstuff sales for more than 3 years. Their nutrition was studied by 24-hour reproduction of nutrition. In addition, nutrition regimen, food preferences were evaluated and alimentary-dependent diseases were detected. The study revealed an imbalance in the nutrition structure, with low consumption of meat and fish, fruits and vegetables, vegetable oil and high consumption of sugar, potato, and bread. The consumption of the main nutrients and micronutrients was insufficient, energy value of food was low, and meals hours irregular.