A Genotyped Case of Townes-Brocks Syndrome with Absent Pulmonary Valve Syndrome from Turkey.

Townes-Brocks syndrome (TBS) is a rare syndrome characterized by triad of anal, ear, and thumb anomalies. Further malformations/anomalies include congenital heart diseases, foot malformations, sensorineural and/or conductive hearing impairment, genitourinary malformations, and anomalies of eye and nervous system. Definitive diagnosis for TBS is confirmed by molecular analysis for mutations in the SALL1 gene. Only one known case of TBS with absent pulmonary valve syndrome (APVS) has been previously described to our knowledge. Here, we report a newborn diagnosed with TBS with APVS and tetralogy of Fallot (TOF) who was found to carry the most common pathogenic SALL1 gene mutation c.826C > T (p.R276X), with its surgical repair and postoperative follow-up. To our knowledge, this is the first genotyped case of TBS from Turkey to date. TBS should be suspected in the presence of ear, anal, and thumb malformations in a neonate. If a patient with TBS and TOF-APVS needs preoperative ventilation within the first months of life, this implies prolonged postoperative intubation and increased risk of mortality.

Cecal duplication cyst causing ileus: A rare pediatric case report.

Duplication cysts are one of the rare congenital anomalies of the gastrointestinal tract. Although it can be seen at all levels throughout the gastrointestinal tract, it is most common in the ileum. One of the rarest of duplication cysts is cecal duplication cyst. Clinically, they become present in the form of vomiting, distention, abdominal pain and palpable mass. Rarely, it can cause acute abdomen such as perforation and obstruction. We present a case of cecal duplication cyst requiring urgent surgical treatment that causes obstruction in a 3-month-old baby.

Evaluation of the morphological and clinical features of left anterior descending myocardial bridging with multi-detector computed tomography.

AIM: The aim of the study was to assess the incidence, localization, depth, length of myocardial bridging (MB) with left anterior descending (LAD), systolic compression ratio, atherosclerotic plaque localization and degree of stenosis by 256-slice multi-detector computed tomography (MDCT). MATERIAL AND METHODS: Computed tomography (CT) scans from a total of 3947 patients who underwent MDCT were reviewed retrospectively for LAD MB. A diastolic and systolic dataset with the best image quality was selected. Myocardial bridge was defined as a coronary artery with an intra-myocardial course. Myocardial bridging was divided into "deep" or "superficial". The length and depth of the bridging segment were calculated. For each bridging segment, the presence of atherosclerosis was saved in a 2-cm-long segment proximal to the entry of the bridging segment. The degree of stenosis made by atherosclerotic plaques was determined. RESULTS: LAD myocardial bridging was detected in 410 (10.4%) patients. Among these, 97 (23.7%) patients had a deep and 313 (76.3%) patients had a superficial course. The mean LAD MB length was 20.28 ±9.63 mm and the depth was 1.72 ±1.11 mm. The systolic and diastolic mean diameter difference was 0.193 mm and the average compression ratio was 9.44%. Atherosclerotic plaques were found in 167 (40.7%) of 410 LAD MB. Atherosclerotic plaques were found in 50.5% of deep MB and 37.7% of superficial MB. CONCLUSIONS: 256-slice MDCT coronary angiography has a high sensitivity to show myocardial bridging in LAD localization, to determine length, depth, compression ratio, atherosclerotic plaque localization and degree of stenosis.

Changes in olfactory bulbus volume and olfactory sulcus depth in the chronic period after COVID-19 infection.

BACKGROUND: Although there are a limited number of studies investigating the changes in olfactory bulb volume (OBV) and olfactory sulcus depth (OSD) values in the acute and subacute periods after COVID-19 infection, there are no studies conducted in the chronic period. PURPOSE: The aim of this study is to reveal the changes in OBV and OSD after COVID-19 in the chronic period. MATERIAL AND METHODS: A total of 83 people were included in our study, including 42 normal healthy individuals (control group) and 41 patients with COVID-19 infection (10-12 months after infection). RESULTS: The COVID-19 group included 41 patients with the mean age 40.27 ± 14.5 years and the control group included 42 individuals with the mean age 40.27 ± 14.4. The mean OBV was 67.97 ± 14.27 mm3 in the COVID-19 group and 94.21 ± 7.56 mm3 in the control group. The mean OSD was 7.98 ± 0.37 mm in the COVID-19 group and 8.82 ± 0.74 mm in the control group. Left, right, and mean OBVs and OSD were significantly lower in patients with COVID- 19 than the control individuals (all p < .05). CONCLUSION: Our findings show that COVID-19 infection causes a significant decrease in the OBV and OSD measurements in the chronic period.

The Shapes and Normal Dimensions of the Sella Turcica.

OBJECTIVE: The aim of this study was to evaluate the normal dimensions and shape of the sella turcica (ST) in the Turkish population using multidetector computed tomography. METHODS: This single-center, retrospective study included 188 patients who met the study criteria and had paranasal multidetector computed tomography taken between January 2019 and December 2019. The patients included in the study comprised 77 females and 111 males. The whole patient group was separated into 3 age groups of 18 to 25 years (group 1), 25 to 40 years (group 2), and 40 years and over (group 3). They were also separated according to gender. RESULTS: The mean length of the ST was determined as 8.52 ±â€Š1.42 mm (min-max 4.61-12.73 mm), mean height as 7.00 ±â€Š1.31 mm (min-max 3.00-10.51 mm), mean aperture as 6.50 ±â€Š2.00 mm (min-max 2.24-12.51 mm), and mean width as 11.01 ±â€Š1.50 mm (min-max 7.78-14.94 mm). No statistically significant difference was determined between the length, height, width, and aperture size values of the ST according to gender and age groups. CONCLUSION: The results of this study demonstrated no significant difference in ST dimensions according to gender or age groups. It can be considered that the shape and dimensions of the ST can be more accurately evaluated with computed tomography and classification can be more robustly applied.

Evaluation of olfactory bulbus volume and olfactory sulcus depth by 3 T MR.

OBJECTIVE: The aim of this study was to evaluate olfactory bulbus volume (OBV) and olfactory sulcus depth (OSD) according to age and sex with 3 T MRI in a healthy Turkish population. MATERIALS AND METHODS: In the current study, 200 patients who had cranial MRI were retrospectively evaluated. They were divided into the following groups to examine the effects of age: group 1: 18-30 years old; group 2: 31-40 years old; group 3: 41-50 years old; group 4: 51-60 years old; and group 5: >60 years old. OBV and OSD measurements were performed on coronal T2-weighted brain MR images. The mean right and left olfactory bulb volume and sulcus depths were used for evaluation. RESULTS: The mean age was 46.5 ± 18.1 (range 18-86) years. The mean OBV value of both sides was 91.17 ± 7.8 mm 3 in all patients. The mean OSD value of both sides was 8.62 ± 0.84 mm in all patients. There was no statistically significant difference in OBV and OSD between sexes (P < 0.236; P < 0.482). Group 5 (>60 years old) was found to have significantly lower OBV and OSD values than the other groups (all P < 0.001). CONCLUSION: The normal values of OBV and OSD should be established according to age to determine decreased OBV and OSD values.

Evaluation of Olfactory Bulb Volumes in Patients With Rheumatoid Arthritis: A Retrospective Study.

Objectives: This study aims to evaluate olfactory bulb (OB) volume in patients with rheumatoid arthritis (RA) using magnetic resonance imaging. Patients and methods: In this retrospective and case-control study, OB volumes of 37 RA patients (6 males, 31 females; mean age 48.6±10.8 years; range, 18 to 65 years) were compared with those of 36 healthy control subjects (5 males, 31 females; mean age 46.5±6.9 years; range, 22 to 62 years). OB images were gained with a protocol of 256×256 matrix and a 24-cm field of view, repetition time=5000 milliseconds (TR 5000 msec), echo time=130 milliseconds (TE 130 msec), number of excitations=2 (NEX 2) and a 5 mm slice thickness. OB volume was computed with the aid of the above images using three dimensional views. The surface of each slice area was calculated in mm2 and all surfaces were added and multiplied by front-back length to obtain a volume in mm3. Results: Left (70.5±14.4 vs. 91.1±12.2 mm3), right (73.9±15.1 vs. 91.2±12.4 mm3), and total (144.5±27.4 vs. 182.8±21.5 mm3) OB volumes were significantly lower in the RA group than in the control group (all p<0.05). Conclusion: Patients with RA may be under risk of decreased OB volumes and related impaired odor functions which might affect the quality of life and activities of daily living adversely.

Comparison of kidney densities of cases with urinary dilatation in unenhanced CT scan.

PURPOSE: The aim of this study was to investigate the diagnostic value of renal parenchymal density differences in distinguishing between acute and chronic urinary dilatations. MATERIAL AND METHODS: Retrospectively, unenhanced CTs of 98 patients were evaluated. Thirty-three had acute urinary obstruction, and 33 had chronic urinary obstruction. Parenchymal density values (HU) and renal pelvic anterior-posterior (AP) diameters of all groups were evaluated by two different radiologists who were unaware of each other and the content of the study. The t-test was used to compare parenchymal densities and renal pelvic diameter differences with normal, acute urinary dilation and chronic urinary dilation groups. RESULTS: Of the 98 cases who were included in the study, 33 people were in the acute obstruction group (7 females, 26 males), and 33 were in the chronic obstruction group. However, the second observer (observer 2) found a statistically significant difference (p < 0.01) during the measurements of density between the obstructed and normal sides. While for the first observer (observer 1), the correlation between right and left renal density measurements of the normal cases was moderate at 0.576; correlation of measurements done by the second observer was found to be high at 0.777. CONCLUSIONS: Pale kidney findings seems to be helpful in diagnosis of acute urinary occlusion, but different results are obtained with evaluations made by different observers. Moreover, it is not a specific finding because oedema can also be seen in some other conditions, such as acute pyelonephritis; for this reason, one must be careful during the evaluation of this finding.

The accuracy of 3T magnetic resonance cholangiopancreatography in suspected choledocholithiasis.

PURPOSE: The purpose of this study was to investigate interobserver agreement during magnetic resonance cholangio-pancreatography (MRCP) evaluation and the sensitivity and specificity of MRCP obtained with 3T scanners in cases of bile duct obstruction. MATERIAL AND METHODS: A total of 37 patients who had MRCP and endoscopic retrograde cholangiography (ERCP) were included. Choledochal pathology was divided into two groups regarding the presence of stones as "there is stone or not". MRCPs were performed with a 3-Tesla system using respiratory triggered HASTE technique in axial and coronal planes and with T2 SPACE sequence in the coronal plane. Sensitivity, specificity, negative predictive value (NPV), and positive predictive value (PPV) were calculated separately for each observer. The average of both observers was calculated for comparison with other studies. RESULTS: Thirty-seven patients were in the study population. Agreement between the observers was analysed, and Cohen's κ value was evaluated as 0.84. For two observers, the sensitivity of MRCP was 93%, whereas the specificity was 75% for the first observer and 62% for the second. CONCLUSIONS: In this study we found a high level of interobserver agreement in evaluating MRCP. MRCP has a high sensitivity in detecting choledocholithiasis.

Decreased olfactory bulb volumes in patients with fibromyalgia syndrome.

Among the other symptoms, impaired olfactory function such as odor identification, threshold, and discrimination have been reported in patients with fibromyalgia syndrome (FMS). To investigate olfactory bulb (OB) volumes in FMS, by using magnetic resonance imaging (MRI), and to make reasonable suggestions are the goals of the present study. The study included 62 individuals as the FMS group (n = 30) and the control group (n = 32). MRI examinations were performed by a 1.5-T scanner and a standard head coil was used for the images. The coronal T2-weighted images were used for to measure OB volumes. Right, left, and total OB volumes were calculated with the aid of these images. The mean age of the FMS group was 44.2 ± 8.3 years and the control group was 41.7 ± 3.53 years. The mean volume of the right OB was 74.9 ± 12.4 mm3 in the FMS group and was 92.6 ± 12.9 mm3 in the control group. The mean value of the left OB volume was 74.3 ± 10.8 mm3 in the FMS group and 92.8 ± 12.6 mm3 in the control group. The mean of the total OB volume was 146.6 ± 20.81 mm3 in the FMS group and 186.5 ± 23.5 mm3 in the control group. Left, right, and total OB volumes were significantly lower in the FMS group than in the control group (all p < 0.05). Female patients with FMS are under the risk of the decreased olfactory bulb volumes. This situation should be kept in mind for proper and reasonable management of this tough syndrome.

Focal myositis: a rare case report.

Focal myositis is an uncommon, self-limiting, benign skeletal muscle disease, which is generally determined as an inflammatory pseudotumor. The etiology is not fully known, although it has been suggested that subclinical damage may play a role. As it leads to a tumoral mass it may be confused with several diseases leading to incorrect evaluations. Definitive diagnosis is made by biopsy of the skeletal muscle. In radiologic diagnosis, magnetic resonance imaging is the most important modality. In this paper we presented the imaging findings of a 58-year-old female patient with focal myositis who was admitted with complaints of forearm swelling.

Pneumatization of crista galli in pre-adult and adult stages / Neumatización de la crista galli en etapas pre adultas y adultas

The sinonasal region in humans is one of the regions that commonly shows anatomical variations. These variations can be easily diagnosed by paranasal CT evaluation. One of these variations is Crista galli pneumatization. In recent years, there have been opinions supporting the hypothesis that pneumatization originates from the frontal sinus. In this study, we planned to evaluate whether the presence of Crista galli pneumatization varied in pre-adult and adult periods. In this retrospectively designed study, 218 coronal paranasal CT images collected between 2012 and 2013 were evaluated. Patients were divided into two groups according to age under or over 18 years. In the group under the age of 18 (97 cases), pneumatization was detected in 2.1 % of samples, while in the group over the age of 18 (121 cases), crista galli pneumatization was observed in 15.7 % of samples. According to these results, crista galli pneumatization was found to increase in adulthood. Considering that the frontal sinus is in a rudimentary state at birth, it is radiographically detected first at 6 years of age, and reaches its main size in puberty, this increase in pneumatization runs parallel to the development of the frontal sinus. Consequently, this supports the opinion that crista galli pneumatization originates from the frontal sinus.

La región nasosinusal en los seres humanos con frecuencia muestran variaciones anatómicas. Estas variaciones se pueden diagnosticar fácilmente mediante la evaluación por tomografía computadorizada (TC) de los senos paranasales. Una de estas variaciones es la neumatización de la Crista galli. En los últimos años, se ha apoyado la hipótesis de que ésta neumatización se origina en el seno frontal. En este estudio fue evaluada la presencia de neumatización de la Crista galli y su posible variación en los períodos pre-adultos y adultos. Se realizó un estudio retrospectivo donde se evaluaron 218 imágenes de TC coronal de senos paranasales, recogidas entre 2012 y 2013. Los pacientes fueron divididos en dos grupos según la edad, menores o mayores de 18 años. En el grupo de menores de 18 años (97 casos), se detectó neumatización en el 2,1 % de las muestras, mientras que en el grupo de mayores de 18 (121 casos), se observó neumatización de la Crista galli en el 15,7 % de las muestras. De acuerdo con estos resultados, la neumatización de la Crista galli aumenta en la edad adulta. Teniendo en cuenta que el seno frontal se encuentra en un estado rudimentario en el nacimiento, se detecta radiográficamente a los 6 años de edad alcanzando su tamaño principal en la pubertad; este aumento de la neumatización es paralelo al desarrollo del seno frontal. En consecuencia, esto apoya la opinión de que la neumatización de la Crista galli se origina en el seno frontal.

Serum Copeptin, Pentraxin 3, Anti-Mullerian Hormone Levels With Echocardiography and Carotid Artery Intima-Media Thickness in Adolescents With Polycystic Ovary Syndrome.

BACKGROUND: The aim of the study was to investigate the presence of possible markers in the prediction of polycystic ovary syndrome (PCOS)-related metabolic alterations and cardiovascular events in adolescent PCOS cases and also to investigate the applicability of anti-Mullerian hormone (AMH) levels for the diagnosis of PCOS. METHODS: In this cross-sectional study, a total of 75 non-obese women (adolescent PCOS group, n = 25; adult PCOS group, n = 25; control group, n = 25) were included. Measurements of copeptin, pentraxin 3 (PTX3), and AMH serum levels were performed. RESULTS: Serum copeptin, PTX3 and echocardiographic indices were not significantly different in PCOS subjects and they did not have higher common carotid artery intima-media thickness (CIMT) measurement. AMH levels were significantly higher in PCOS patients. There was a positive correlation between AMH and mean ovarian volume (r = 0.58, P < 0.001) and between AMH and total testosterone level (r = 0.63, P < 0.001). In order to predict a threshold value for the diagnosis of PCOS by using AMH, the receiver operating characteristic (ROC) method was used. Area under the curve was 0.820 and cut-off point was 6.66 ng/mL for AMH with a sensitivity of 62% and specificity of 76%. CONCLUSIONS: Possible markers for PCOS-related metabolic alterations may not present in the adolescent years. Serum AMH may be useful as a diagnostic test for adolescents.