Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile.

Noonan syndrome (NS) and NS related disorders (NRD) are frequent monogenic diseases. Pathogenic variants in PTPN11 are observed in approximately 50% of these NS patients. Several pleiotropic phenotypes have previously been described in this condition.

Use of Buccal Fat Pad in the Treatment of Peri-Implant Mucosal Defect: A Case Report.

The present study describes a clinical case in which the buccal fat pad (BFP) was used to improve the contour of the peri-implant mucosa. To our knowledge, this is the first case report of such an application in the literature. A 58-year-old woman presented with teeth #2 and #3 missing and an indication for extraction of tooth #4.

Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome.

Objectives: The aim of this study was to evaluate the response to recombinant human growth hormone (rhGH) treatment in patients with Noonan syndrome (NS).

Materials And Methods: Forty-two patients (35 PTPN11+) were treated with rhGH, and 17 were followed-up until adult height. The outcomes were changes in growth velocity (GV) and height standard deviation scores (SDS) for normal (height-CDC SDS) and Noonan standards (height-NS SDS).

Evaluation of the impact of preoperative use of dexamethasone and cyclobenzaprine in surgical extraction of lower third molars on trismus by electromyographic analysis.

Purpose: The aim of this study was to evaluate the influence of cyclobenzaprine and dexamethasone on ​the electrical activity of the masticatory muscles in patients who had undergone lower third molar surgery.

Methods: Thirty bilateral impacted lower third molars with indication of extraction were randomised into three groups: the control group, the dexamethasone, and the cyclobenzaprine group. To obtain muscular electrical activity and mouth opening, an electromyographic device was used at mandibular rest and maximum voluntary contraction and compared pre- and post-operatively.

Analysis of masseter and temporal muscles during surgical extraction of impacted third molars.

With the aim of contributing to the discussion on stomatognathic system dysfunction after surgical procedures, this study compared the electromyographic activity of the superficial masseter and temporal masticatory muscles before, during, and after impacted mandibular third molar extractions. Muscular activity was recorded presurgery, transsurgery, immediately postoperatively, and on postoperative days 7, 15, and 30. Twenty patients requiring extraction of impacted mandibular third molars were selected and evaluated.

A large dentigerous cyst treated with decompression and orthosurgical traction: a case report.

This article presents the case of an 8-year-old patient who presented with a large radiolucency associated with the maxillary left canine and a supernumerary tooth. A computed tomography scan showed the radiolucency was in close proximity to the roots of the anterior teeth, with no areas of root resorption, and expansion into the left maxillary sinus. The boundaries of the maxillary sinus floor were still preserved.

Isolated familial somatotropinoma: 11q13-loh and gene/protein expression analysis suggests a possible involvement of aip also in non-pituitary tumorigenesis.

Objective: Non-pituitary tumors have been reported in a subset of patients harboring germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene. However, no detailed investigations of non-pituitary tumors of AIP-mutated patients have been reported so far.

Patients: We examined a MEN1- and p53-negative mother-daughter pair with acromegaly due to somatotropinoma.

Excision of an atypical case of palatal bone exostosis: a case report.

Bone exostosis has long been described in the literature, appearing in most cases as a torus palatinus or mandibularis. These two variations are relatively common and affect approximately 30% of the world's population. Incidence is even higher when human skulls are examined post mortem, indicating that in some cases the exostosis is small and cannot be seen under the soft tissue.