Ayla Buyukkaya

Whole-Exome Sequencing Identifies Homozygous GPR161 Mutation in a Family with Pituitary Stalk Interruption Syndrome

CONTEXT Pituitary stalk interruption syndrome (PSIS) is a rare, congenital anomaly of the pituitary gland characterized by pituitary gland insufficiency, thin or discontinuous pituitary stalk, anterior pituitary hypoplasia, and ectopic positioning of the posterior pituitary gland (neurohypophysis). The clinical presentation of patients with PSIS varies from isolated growth hormone (GH) deficiency to combined pituitary insufficiency and accompanying extrapituitary findings. Mutations in HESX1, LHX4, OTX2, SOX3, and PROKR2 have been associated with PSIS in less than 5% of cases; thus, the underlying genetic etiology for the vast majority of cases remains to be determined. OBJECTIVE We applied whole-exome sequencing (WES) to a consanguineous family with two affected siblings who have pituitary gland insufficiency and radiographic findings of hypoplastic (thin) pituitary gland, empty sella, ectopic neurohypophysis, and interrupted pitiutary stalk-characteristic clinical diagnostic findings of PSIS. DESIGN AND PARTICIPANTS WES was applied to two affected and one unaffected siblings. RESULTS WES of two affected and one unaffected sibling revealed a unique homozygous missense mutation in GPR161, which encodes the orphan G protein-coupled receptor 161, a protein responsible for transducing extracellular signals across the plasma membrane into the cell. CONCLUSION Mutations of GPR161 may be implicated as a potential novel cause of PSIS.

Doppler waveforms of the hepatic veins in children with diffuse fatty infiltration of the liver.

OBJECTIVE The aim of this study was to investigate the effect of fatty infiltration of the liver (FIL) on the Doppler waveform pattern in the hepatic veins of obese children. METHODS In this prospective study, 59 patients with diffuse FIL and 45 normal healthy children who served as control group underwent hepatic vein B-mod and duplex Doppler sonography. The Doppler sonography spectrum of the right hepatic vein was classified into three groups: triphasic waveform, biphasic waveform, and monophasic or flat waveform. RESULTS There was a statistically significant difference in the phasicity of hepatic venous flow between patients and control subjects (p<0.001). The Doppler flow pattern in the right hepatic vein was triphasic in 28 (47.5%), biphasic in 28 (47.5%), and monophasic in 3 (5%) children with fatty liver, while it was triphasic in 43 (95.6%) and biphasic in 2 (4.4%) control subjects. There was an inverse correlation between the sonographic grade of fatty infiltration of the liver and the phasicity of hepatic venous flow (r=-0.479, p<0.001). CONCLUSIONS Abnormal right hepatic vein Doppler waveform, biphasic as well as monophasic, can be seen in healthy obese children with diffuse FIL.

Is There a Relationship Between Paratracheal Air Cysts and Upper Lobe Fibrosis

Objective The purpose of this study was to determine the characteristics of paratracheal air cysts (PACs) and their relationship with upper lobe pulmonary fibrosis. Materials and Methods The routine thoracic computed tomography scans of 3549 patients carried out between January 2014 and April 2015 were retrospectively evaluated. The presence, location, structural characteristics (uniloculated or multiloculated), number of cysts, and anterior-posterior and transverse dimensions of the PAC and its communication with the tracheal lumen were evaluated. The presence of upper lobe fibrosis, emphysema, and bronchiectasis was also evaluated. The relationship between upper lobe fibrosis, emphysema, bronchiectasis, and the presence of paratracheal cysts was evaluated in all patients. An equal number of randomized patients with no paratracheal cysts were selected as a control group. Results A total of 190 PAC cases were diagnosed, with a prevalence rate of 5.35%: 146 (76.8%) of the cases were men, 44 (23.2%) were female, and the mean (SD) age was 53.79 (16.64) years (range, 12–89 years). The control group included 105 men (57.4%) and 78 women (42.6%), and the mean (SD) age was 53.87 (16.65) years (range, 13–87 years). The groups were similar in terms of age (P = 0.876), whereas the proportion of men in the PAC group was significantly higher (P < 0.001). Most of the PACs were located on the right side (n = 188, 98.9%). The incidence of fibrosis in the paratracheal cyst group was 45.8% (n = 87) compared with 19.5% (n = 37) in the control group; this difference was statistically significant (P < 0.001). The prevalence rates of emphysema in the cyst group and the control group were 29.5% (n = 56) and 11.6% (n = 22), respectively, and the difference was statistically significant (P < 0.001). When the groups were compared regarding bronchiectasis (scar and non–scar related), the rate of bronchiectasis in the paratracheal cyst group was 17.9% (n = 34), compared with 3.7% (n = 7) in the control group; this difference was statistically significant (P < 0.001). Conclusions Paratracheal air cysts are relatively common, but the etiology is still unclear. We detected increased rates of cyst formation that may result from the traction effect on the tracheal wall in the presence of upper lobe fibrosis.

Lumbar Morel-Lavallee lesion after trauma: a report of 2 cases

Morel-Lavallee syndrome is a posttraumatic soft tissue injury in which the subcutaneous tissue is broken off from the underlying fascia, creating a cavity filled with hematoma and liquefied fat. It commonly occurs over the greater trochanter and, rarely, may also occur in the lumbal region.Morel-Lavallee syndrome can be often diagnosed late because of ommitted diagnosis in emergency services. The emergency physician and radiologist must keep this syndrome in mind because early diagnosis can enable conservative management, whereas delayed diagnosis may lead to surgical exploration. In this article,we present the clinical and radiologic features of 2 cases of lumbar Morel-Lavallee syndrome detected after trauma.

Cervical rib mimicking supraclavicular mass

Joint Bone Spine - In Press.Proof corrected by the author Available online since lundi 20 juillet 2015

Cerebellopontine angle lipoma with mild brainstem compression in a 13-year-old patient.

To the Editor: I have read the article by Crowson et al. (1) titled ‘‘Left cerebellopontine angle lipoma with mild brainstem compression in a 13-year-old female’’ curiously and carefully. As I am interested in head and neck radiology, I wanted to mention a few points I noticed. Magnetic resonance imaging and computed tomographic findings are important for the evaluation and diagnosis of intracranial lipomas. Lipomas are seen hyperintense in T1weighted images as authors mentioned. T2-weighted images show variable signal intensity, and lipomas are suppressed in fat-saturated images. Another diagnostic option is compatible Hounsfield attenuation units with fat tissue in computed tomography. Lipomas are nonenhancing lesions. When I examined the magnetic resonance images of the case, I agree with the authors in the diagnosis of lipoma, but these images are in T1-weighted sequences instead of fat-suppressed sequences, so interpretation of contrast enhancement is not convenient in my opinion. It must be evaluated in T1-weighted fat suppressed sequences to conclude enhancement pattern. In figure C and D, it is recognized that images are after contrast administration just by the hyperintensity of arterial structures (2).

Complex fracture of the clivus after head trauma

Clivus fracture (CF), which is usually reported to accompany with head trauma, has high mortality rates. Early diagnosis of CF is rare because of high mortality rates and inadequate urgent radiologic techniques; however, diagnosis rates are increasing with computed tomography images obtained in high resolution and thin sections. In this article, radiologic and clinical features of 2 patients who were detected to have longitudinal CF after head trauma are presented and accompanying pathologies and its importance for prognosis are discussed under the light of literature data composed of a small number of reports.

Relationship between breast arterial calcifications detected on mammography and brachial artery intima-media thickness

SummaryPurposeAlthough breast arterial calcification (BAC) was shown to be related with coronary artery disease (CAD), hypertension (HT), diabetes mellitus (DM) and carotid intima-media thickness (C-IMT), but the association between BAC and brachial intima-media thickness (B-IMT) has not been evaluated yet. Our aim was to investigate whether associations existed between BAC and measure B-IMT and atherosclerosis (AS) by comparing these patients with healthy control subjects.MethodsA Total of 75 patients were included in the study. Subjects with or without BAC were assigned into one of two groups and those with a BAC were graded. Main brachial artery IMT was measured.ResultsWhen the effect of age was partialled out statistically, we found a statistically significant difference in mean B-IMT between BAC (+) (0.54 ± 0.09) and BAC (-) (0.45 ± 0.08) groups (p = 0.001) after the groups were adjusted for age.ConclusionsIn conclusion, even though the relationship between B-IMT and BAC was significant, like the relationship between C-IMT and BAC, significant age difference between BAC (+) and BAC (-) groups and no significant relationship between BAC and time after menopause, after adjustment for age, suggest a strong association between BAC and age rather than AS. This can be elucidated by pathological correlation studies in larger series of subjects.ZusammenfassungZiel der StudieObwohl gezeigt werden konnte, dass arterielle Kalzifikationen der Brust mit koronarer Herzkrankheit, Hypertonie, Diabetes mellitus und Carotid Intima-Media-Dicke korrelieren, wurde eine mögliche Beziehung zwischen Verkalkungen der Brust und der brachialen Intima-Media-Dicke bisher nicht untersucht. Ziel unserer Studie war es, zu untersuchen, ob eine solche Beziehung besteht, beziehungsweise ob eine Beziehung mit Atherosklerose vorliegt, wobei die Daten von Patienten und gesunden Kontrollpersonen verglichen wurden.MethodenInsgesamt wurden 75 Patienten in die Studie eingeschlossen. Patienten mit oder ohne arteriellen Verkalkungen in der Brust wurden einer von zwei Gruppen zugeteilt. Die Patienten mit einer Verkalkung wurden entsprechend dem Schweregrad graduiert. Die mittlere Intima-Media-Dicke der Brachialarterie wurde gemessen.ErgebnisseNach statistischer Ausschaltung des Einflusses vom Alter fanden wir einen statistisch signifikanten Unterschied in der mittleren Dicke der Intima-media der Arteria brachialis von Patienten mit arterieller Verkalkungen der Brust (+) (0,54 ± 0,09) im Vergleich zu jener von Patienten ohne diese Verkalkungen (-) (0,45 ± 0,08) (p = 0,001).SchlussfolgerungenUnsere Ergebnisse legen trotz der beobachteten signifikanten Korrelation zwischen der Intima-Media-Dicke der Arteria brachialis und den arteriellen Verkalkungen in der Brust eher eine Abhängigkeit der arteriellen Verkalkungen in der Brust vom Alter als von der Atherosklerose nahe. Diese Annahme beruht auf dem beobachteten signifikanten Altersunterschied zwischen den Patienten mit arteriellen Brustverkalkungen und jenen ohne, sowie der fehlenden Signifikanz einer Beziehung zwischen arteriellen Brustverkalkungen und der Zeit nach Beginn der Menopause nach Berücksichtigung des Alters.

Fusion defect in anterior arch of the atlas mimicking a fracture in a trauma patient.

A 22-year-old female patient was brought to the emergency department after a fall. No abnormal findings were found on her physical examination. Her cranial computed tomography scan was evaluated to be normal. An apparent hypodense line was detected on the anterior side of the first cervical vertebra (C1) (Figure). The lesion was suspected to be a fracture because the patient was brought to the emergency department owing to a trauma. Fortunately, there were no abnormal findings on her physical examination, and she did not state any trauma to the cervical region. Some sclerotic changes and digitation of the bony structures formed the hypodense line; midline location of the lesion, and the lack of soft-tissue lesions around that line made us to exclude the diagnosis of a fracture. Anterior arch cleft of the atlas was diagnosed, and the patient was advised for outpatient clinic follow-up.

Twin Reversed Arterial Perfusion (TRAP) Sequence; Characteristic Gray-Scale and Doppler Ultrasonography Findings

Twin reversed arterial perfusion (TRAP) sequence is a syndrome with poor prognosis, seen only in monochorionic monozygotic twin pregnancies. The incidence is one in 35.000 births and one in 100 monozygotic twin pregnancies. It is characterized with a recipient fetus exhibiting lethal anomalies including acardia and a pump fetus. Mortality is usually due to heart failure or premature labor caused by polyhydramnios of pump fetus. Herein, we report a case of TRAP sequence that emphasizes the importance of gray-scale and color Doppler imaging in the diagnosis and management of TRAP sequence.