A thoracic-epidural granulocytic sarcoma case that was diagnosed preceding the onset of and that recurred co-incidental to acute promyelocytic leukemia, which developed after surgical treatment.

Granulocytic sarcoma or chloroma is a tumor seen in myelocytic leukemia. Spinal epidural onset is rare and is generally seen before or together with the onset of myelocytic leukemia. An epidural mass located at the 2nd-5th thoracic levels in an 18-year-old male patient was pathologically diagnosed as granulocytic sarcoma. Radiotherapy was performed after surgical intervention. Ten months later, he was re-admitted with abdominal pain. At this time, an epidural mass at the 6th-9th thoracic levels was detected on magnetic resonance imaging, and acute promyelocytic leukemia was diagnosed. After systemic chemotherapy, partial remission was achieved. We aimed to present this rare case with its remarkable follow-up findings.</p

Analysis of the Volumes of the Posterior Cranial Fossa, Cerebellum, and Herniated Tonsils Using the Stereological Methods in Patients with Chiari Type I Malformation

Objective. The aim of this study was to determine the posterior cranial fossa volume, cerebellar volume, and herniated tonsillar volume in patients with chiari type I malformation and control subjects using stereological methods. Material and Methods. These volumes were estimated retrospectively using the Cavalieri principle as a point-counting technique. We used magnetic resonance images taken from 25 control subjects and 30 patients with chiari type I malformation. Results. The posterior cranial fossa volume in patients with chiari type I malformation was significantly smaller than the volume in the control subjects (P < 0.05). In the chiari type I malformation group, the cerebellar volume was smaller than the control group, but this difference was not statistically significant (P > 0.05). In the chiari type I malformation group, the ratio of cerebellar volume to posterior cranial fossa volume was higher than in the control group. We also found a positive correlation between the posterior cranial fossa volume and cerebellar volume for each of the groups (r = 0.865, P < 0.001). The mean (±SD) herniated tonsillar volume and length were 0.89 ± 0.50 cm3 and 9.63 ± 3.37 mm in the chiari type I malformation group, respectively. Conclusion. This study has shown that posterior cranial fossa and cerebellum volumes can be measured by stereological methods, and the ratio of these measurements can contribute to the evaluation of chiari type I malformation cases

Detection of Novel NF1 Variants with Next-Generation DNA Sequencing Technology and Genotype-Phenotype Characteristics of Neurofibromatosis

MakaleWOS:000925992500001Objective: Neurofibromatosis type 1 (NF1, #162200) is a common neurological disorder with de novo or inherited germline mutations of the Neurofibromin (NF1, *613113). The purpose of this study is to increase the limited knowledge of NF1 in a small population-based dataset. Materials and Methods: This study enrolled patients with clinically suspected NF1 referred to the Kayseri Training and Research Hospital, Medical Genetics Department, between 2015 and 2017. The local ethics committee approved this study. Next-generation sequencing was performed for the genetic analysis. The genetic, demographic, and clinical features of the participants were characterized. Results: A total of 79 cases of NF1 were included. Of these cases, 40 were male, and 39 were female. The mean age was 11.9 years, and most were younger than 18 years. The most common complaint was cafe au lait macules. The 61 (77.3%) patients had pathogenic variants, and 16 (26.2%) were novel. Mostly affected mutation sites were exonic regions (n=54, 88.5%). The most common mutated exon was exon 38 (n=7, 11.5%), and most of the detected mutations were nonsense mutations (31%). Conclusion: It is one of Turkiye's largest NF1 study groups, where all exons of the NF1 gene were analyzed. This study contributes novel variants to the literature. There was no mutational hotspot region, and no significant relationship between genotype and phenotype was observed. Further studies and large sample sizes are required to better understand the relationship between NF and genetic changes

Pelvic digit: A case report with reference to the differential diagnosis of pelvis abnormalities

Kalça ağrısı ile başvuran 44 yaşında bir erkek hastanın pelvis radyografisinde tesadüfi olarak pelvik kaburga saptandı. Kemik kitlenin sınırlarını daha iyi görebilmek için bilgisayarlı tomografi görüntülerinin üç boyutlu rekonstrüksiyonu alındı. Pelvis etrafında atipik bir kemik yapı görüldüğünde bu gelişimsel anomalinin de akılda tutulması, gereksiz tetkikler ve tedaviyi önlemede yardımcı olabilir.Pelvic digit was incidentally detected on plain pelvis radiography of a 44-year-old male patient who presented with right-sided hip pain. Three-dimensional reconstruction of computed tomography scans provided a more clear illustration of the anatomy and localization of this anomaly. To avoid unnecessary investigation methods and treatment, this entity should be kept in mind when an atypical bone structure is noted around the pelvis

Is there a relationship between anterior knee pain and femoral trochlear dysplasia? Assessment of lateral trochlear inclination by magnetic resonance imaging

WOS: 000259672200004PubMed: 18553069It may be very difficult to diagnose the pathology in patients with anterior knee pain. Patients with chronic anterior knee pain have been reviewed for the study. Our aim was to delineate the presence of subtle trochlear dysplasia by measuring lateral trochlear inclination (LTI) in axial magnetic resonance imaging (MRI) scans. While there were 109 knees in the study group with anterior knee pain (AKP), control group consisted of 74 knees without AKP. The LTI measurements were performed at the level of proximal cartilaginous area of trochlear groove in axial scans. The condition was termed to be trochlear dysplasia when LTI was below 11 degrees. Parameters in both groups were statistically analyzed and compared for their association with LTI. There was no significant difference between LTI values of male and female subjects in each group. The mean LTI values in anterior knee pain and control groups were 17.32 degrees and 21.5 degrees, respectively, and the difference was statistically significant (P < 0.05). The ratio of knees with trochlear dysplasia was 16.5% in AKP group, which was only 2.7% in control. In the AKP group, the ratio of trochlear dysplasia was significantly high (P < 0.05). Although trochlear dysplasia has been generally detected in cases with patellar instability, this study revealed that the frequency of this finding in patients with other causes of anterior knee pain was also considerably high. Measurement of lateral trochlear inclination in axial MRI scans with radiologic assessment seems to be a valuable diagnostic criterion, especially in patients in whom etiology of anterior knee pain could not be identified

Calciphylaxis Involving Both the Upper and Lower Extremities

Calciphylaxis is an uncommon complication of end stage renal disease (ESRD) and secondary hyperparathyroidism. It characterized by cutaneous necrosis with mural calcifications and thrombosis in the small vessels of dermis. It is important to diagnose and treat, because of mortality rate from calciphylaxis is very high. We present the case of a patient with ESRD and type II diabetes mellitus developing calciphylaxis of the both upper and lower extremities had normal corrected calcium-phosphate product level. After amputation, necrosis was showed rapid progression resulting in death in one month

Computerized tomography and ultrasonography findings in two cases with parotid gland lipoma

Lipomlar sık izlenen benign yumuşak doku kitleleri olmalarına rağmen parotis bezinde oldukça nadir görülürler. Bu lezyonlar ultrasonografide (US) genellikle hipoekoik kitle şeklinde izlenirler ve bilgisayarlı tomografide (BT) düşük yağ dansiteleri ile tanınabilirler. Parotis bezinde lipom tespit ettiğimiz iki olgunun US ve BT bulgularını sunuyoruz.Although lipomas are common benign soft tissue neoplasms, they are rarely found in the parotid gland. These lesions are usually observed as hypoechoic masses in ultrasonography (US) and are recognized by their low fat density in computerized tomography (CT). We report the findings of US and CT in two cases which were determined by the lipoma of the parotid gland