The presence of two different genetic conditions in the same individual is possible, especially in populations with consanguinity. In this case report, we present the coexistence of Artemis deficiency (OMIM 602450) and Three M (3M) syndrome (OMIM 273750). A 10-months-old male patient with neuromotor developmental delay was evaluated for immunodeficiency due to recurrent respiratory infections diarrhea and oral moniliasis from the age of 1.
View Article and Find Full Text PDFBackground: The aims of this study are to determine the incidence and more frequent localizations of orbital fat tissue herniation accompanying dehiscences in the medial orbital wall and to investigate the relationship between orbital fat tissue herniations and the anterior and posterior ethmoidal foramina.
Methods: One thousand two hundred patients who had undergone computed tomography with a preliminary diagnosis of sinusitis and who had no previous facial, orbital, paranasal sinus surgeries or history of trauma were retrospectively analyzed. The localization of the ethmoidal foramina and orbital fat tissue herniations were marked.
Turk J Med Sci
December 2021
Background/aim: The aims of this study are to determine the incidence and more frequent localizations of orbital fat tissue herniation accompanying dehiscences in the medial orbital wall and to investigate the relationship between orbital fat tissue herniations and the anterior and posterior ethmoidal foramina.
Material And Methods: One thousand two hundred patients who had undergone computed tomography with a preliminary diagnosis of sinusitis and who had no previous facial, orbital, paranasal sinus surgeries or history of trauma were retrospectively analyzed. The localization of the ethmoidal foramina and orbital fat tissue herniations were marked.
Background/aim: The aim of this study was to measure the volume of interscalene space in thoracic outlet region on cadavers and radiological images and to analyze the potential value of these measurements in diagnosis and treatment of thoracic outlet syndrome (TOS).
Materials And Methods: The dimensions of the anterior interscalene space in 8 formalin-fixed human cadavers were studied by direct measurement and additionally evaluation of the volume of this space were done by using mold and volume calculation formula of square pyramid, due to resembling a pyramid. In the second phase of this study, interscalene space volume was calculated by formula and compared to calculations from computed tomography (CT) sections in 18 TOS and 16 control patients.
Background: The objective of this study is to investigate the position and frequency of dehiscences in the medial orbital wall and to reveal that dehiscences and orbital adipose tissue hernias are distinct entities.
Materials And Methods: Two hundred-thirty medial orbital walls of 115 patients with a preliminary diagnosis of headache and sinusitis but without active ethmoidal sinusitis were examined by computer tomography in the axial plane. Two separate radiologists assessed continuity of the medial orbital wall and orbital fat tissue herniation in ethmoid cells.