Havva Serap Toru

Associated anomalies with neural tube defects in fetal autopsies

Abstract Neural tube defects (NTD), the consequences of aberrant neural tube closure during embryogenesis, have been mostly investigated in terms of their high prevalence, rate of mortalities and serious morbidities. A proper prenatal outcome counseling of couples coming across a fetal anomaly necessitates the detection and categorization of the primer abnormality, all the co-existing malformations. The aim of this work is to study the incidence and relevance of associated malformations in order to offer a complete pathology report with a true diagnosis. In this study, among 542 fetal autopsy 62 (%11.4) cases with NTD was recorded by the Akdeniz University Pathology Department between January 2006 and June 2012. Twenty (32.4%) NTD cases were associated with anomaly. Twelve cases of associated groups consisted of a congenital syndrome/association, spondylothoracic dysplasia, amniotic band syndrome, Meckel–Gruber syndrome, schisis association. The frequency of associated NTD was 32%, this result was higher than previous reports. NTDs have a significant genetic component to their etiology that interacts with environmental risk factors, which might pose Turkey to be a country with high prevalence of NTD. We want to emphasize that intensive screening, documentation of co-existent abnormalities of NTD, should be conducted in order to exhibit certain diagnosis, to perform proper prenatal genetic counseling of parents for on-going/future pregnancies.

The Comparison of the Efficacy of Blue Light-Emitting Diode Light and 980-nm Low-Level Laser Light on Bone Regeneration

AbstractThe aim of this study is to histologically compare effects of blue light-emitting diode (LED) light (400–490 nm) and Ga–Al–As low-level diode laser light (980 nm) on bone regeneration of calvarial critical-sized defects in rats. Thirty Wistar Albino rats were included in the study. The experimental groups were as follows: blue LED light (400–490 nm) group (LED); 980-nm low-level laser light group (LL); and no-treatment, control group (CL). A critical-sized defect of 8 mm was formed on calvaria of rats. Each animal was sacrificed 21 days after defect formation. Calvarias of all rats were dissected and fixated for histological examination. Histomorphometric measurements of total horizontal length of the newly produced bone tissue, total vertical length of the newly produced bone tissue, and diameter of the newly produced longest bone trabecula were performed with a computer program in micrometers. There was a statistically significant increase in the total horizontal length and total vertical length in LL and LED groups compared to that in the CL group (P < 0.05), while there was no statistical difference between LED and LL groups (P > 0.05). A statistically significant difference was observed in the longest bone trabecula and LL groups compared to that in CL (P < 0.05), but not between LED–CL and LED–LL groups (P > 0.05). In conclusion, blue LED light significantly enhances bone regeneration in critical-sized defects when compared with CL group, but does not have a statistically significant effect on bone regeneration when compared with 980-nm low-level laser light.

Chromosome abnormalities identified in 457 spontaneous abortions and their histopathological findings.

Abstract Objective: About 15% of clinically recognized pregnancies result in spontaneous abortion in the first trimester and the vast majority of these are the result of chromosome abnormalities. Studies of chromosomal constitutions of first trimester spontaneous abortions have revealed that at least 50% of the abortions have an abnormal karyotype. In this study we aimed to report the single centre experience of anomalies detected in spontaneous abortions. Material and Method: We present rare numerical and structural cytogenetic abnormalities detected in spontaneous abortion materials and the histopathological findings of rest material of abortion specimens in our study population. Results: Among 457 cases, 382 were successfully karyotyped while cell culture of 75 cases failed. Cytogenetic abnormalities were detected in 127 of 382 cases (33.24%). Autosomal trisomies were the predominant chromosomal abnormalities with a frequency of 48.8%. Structural chromosomal abnormalities were infrequent in conception materials. The mean age of the mothers was highest in trisomy group, the difference being significantly important (ANOVA p< 0.001). The most frequent chromosomal abnormalities were Turner syndrome, triploidy and trisomy of chromosome 16 followed by trisomy of chromosomes 22 and 21 and tetraploidy. Double trisomies and structural chromosomal abnormalities were rare. Trisomies were more frequent in advanced maternal age. Conclusion: Detection of chromosomal abnormalities in spontaneous abortion materials is very important to clarify the causes of loss of pregnancy. Detection of structural chromosomal abnormalities in the cases and their carrier parents can provide proper genetic counseling to these families. These families can be directed towards pre-implantation genetic diagnosis to prevent further pregnancies with complications. Öz Amaç: Klinik olarak gebeliklerin yaklaşık %15’i ilk trimesterde abortus ile sonuçlanmakta olup büyük kısmında ise neden kromozom anormallikleridir. Çalışmalar göstermiştir ki ilk trimesterda abortusla sonuçlanan gebeliklerin %50’sinde kromozomal olarak karyotip anomalileri görülmüştür. Çalışmada tek merkeze ait spontan abortus olgularındaki anomalileri sunmak amaçlandı. Gereç ve Yöntem: Çalışmada tıbbi biyoloji ve genetik bölümümüze gelen spontan abortus materyallerinde tespit edilen sayısal ve yapısal sitogenetik anomalileri ve bu olguların histopatolojik bulguları sunuldu. Bulgular: Karyotipleme için gelen 457 spontan abortus materyalinin 382 tanesinde başarılı karyotipleme yapılabilmiştir, 75 olguda hücre kültürü başarısız olmuştur. Sitogenetik anomaliler 382 olgunun 127’sinde görülmüştür (%33.24). Otozomal trizomiler %48,8 oranı ile en baskın görülen anomalidir. Yapısal anomaliler abortus materyallerinde pek sık değildir. Ortalama anne yaşının en yüksek olduğu anomali grubu trizomi grubudur ve fark istatistiksel olarak anlamlıdır (ANOVA p< 0.001). En sık görülen kromozomal anomaliler Turner sendromu, triploidi ve trizomi 16’dır. Bunları trizomi 22, 21 ve tetraploidi takip eder. Çalışmada çift trizomiler ve yapısal kromozom anomaliler nadirdir. Anne yaşı ileri olursa trizomiler daha sık görülmektedir. Sonuç: Sonuç olarak spontan abortus materyallerinde kromozom anomalilerinin değerlendirilmesi gebelik kayıplarının sebeplerini açığa çıkarmak için önemlidir. Yapısal kromozom anomalilerinin tespit edilmesi aileye sonraki gebeliklerde daha iyi genetik danışmanlık verilmesine yardımcı olur. Bu ailelere bir sonraki gebeliklerinde komplikasyonları önlemek için preimplantasyon döneminde genetik tanı ile rehberlik edilebilir.

Alveolar Soft Part Sarcoma Presenting with Nasal Obstruction

Alveolar soft part sarcoma (ASPS) was first described by Christopherson et al. ASPS is a slow-growing and rare soft tissue tumor that usually occurs in young adults; patients are most often diagnosed between the ages of 15-35 years. ASPS are mainly located on the lower extremities, but can also be found on the arms, chest, and retroperitoneal areas. In children, ASPS are often found around the head and neck, especially on the tongue and orbita. ASPS is more common in women than in men, and the metastasis incidence ranges between 21% and 65% at the time of diagnosis. ASPS most commonly metastasize to the lungs, but also frequently metastasize to the bones and brain. In adults, ASPS is quite rare around head and neck. This study aimed to review the general approach to an adult patient with ASPS located in the nasal cavity.

Rare Structural Chromosomal Abnormalities in Prenatal Diagnosis; Clinical and Cytogenetic Findings on 10125 Prenatal Cases / Prenatal Tanıda Nadir Yapısal Kromozom Anomaliler; 10125 Prenatal Olgunun Klinik ve Sitogenetik Bulguları

ABSTRACT Objective: The aim of this study was presentation of the ultrasonographic findings and perinatal autopsy of cases with rare chromosomal abnormalities. Material and Method: A total of 10125 prenatal cases over 17 years including 8731 amniocentesis, 973 chorionic villus sampling, and 421 fetal blood sampling cases were evaluated for prenatal cytogenetic diagnosis. Conventional cytogenetic studies, fluorescence in situ hybridization studies, and Array-CGH analysis techniques were used for genetic analysis. Results: A structural chromosomal abnormality was observed in 95 cases. The most frequently observed structural abnormalities were balanced translocations with a frequency of 53.7% (51 cases) followed by unbalanced translocations (16.8%), inversions (11.6%), supernumerary marker chromosomes (8.4%), duplications (4.2%), deletions and ring chromosomes (2.1%) and complex translocation (1.1%). Rare structural chromosomal abnormalities including de novo balanced translocations, unbalanced translocations, inversions, duplications, deletions, ring chromosomes, and supernumerary marker chromosomes were detected in 24 cases. Conclusion: The rate of rare chromosomal abnormalities varies from 2.4% (South East Ireland) to 12.9% (Northern England) in Europe with a total rate of 7.4/10 000 births. In our study, the overall rate of chromosomal abnormality in prenatal cytogenetic diagnosis was 3.7%, similar to South East Ireland. Ultrasonographic and perinatal autopsy findings of the cases with rare structural chromosomal abnormalities are important for proper genetic counseling for further similar cases. ÖZ Amaç: Çalışmada nadir kromozomal anomalilerin ultrasonografik ve perinatal otopsi bulgularını sunmayı amaçladık. Gereç ve Yöntem: Çalışmada 17 yıllık bir süreçte hastanemize prenatal sitogenetik değerlendirmeye gelen 10125 olguyu ele aldık. Olguların 8371’i amniyosentez, 973’ü koryonik villus örneklemesi ve 421’i fetal kan örneğinden oluşmaktadır. Genetik analiz için konvasiyonel sitogenetik yöntemler, floresan in situ hibridizasyon ve array-CGH teknikleri kullanılmıştır. Bulgular: Yapısal kromozomal anomaliler 95 olguda görüldü. En sık görülen yapısal anomali grubunu %53,7 oranı (51 olgu) ile dengeli translokasyonlar oluşturmakta olup, bunu %16,8 ile dengesiz translokasyonlar, %11,6 ile inversiyonlar, %8,4 ile ilave marker kromozomlar, %4,2 ile duplikasyonlar, %2,1 ile delesyon ve ring kromozomlar, %1,1 ile kompleks translokasyonlar izlemektedir. De novo dengeli translokasyonlar, dengesiz translokasyonlar, inversiyonlar, duplikasyonlar, delesyonlar, ring kromozomlar ve ilave marker kromozomlardan oluşan nadir yapısal anomaliler 24 olguda tespit edilmiştir. Sonuç: Nadir kromozomal anomalilerin oranları Avrupa’da %2,9 (Güney Doğu İrlanda) ile %12,9 (Kuzey İngiltere) arasında değişmektedir ve toplamda oran 7,4 / 10 000 doğumdur. Çalışmada prenatal sitogenetik tanıda genel kromozomal anomali oranı %37 olup, Güney Doğu İrlanda’ya benzerdir. Nadir yapısal kromozom anomalilerine sahip olguların prenatal ultrasonografik değerlendirmeleri ve perinatal otopsi sonuçları diğer benzer olgulara doğru genetik danışma vermek için oldukça önemlidir.

Histomorphometric Comparison of Bone Regeneration in Critical-Sized Bone Defects Using Demineralized Bone Matrix, Platelet-Rich Fibrin, and Hyaluronic Acid as Bone Substitutes

Aim: To compare bone regeneration in the critical-sized bone defects grafted with demineralized bone matrix, platelet-rich fibrin, and hyaluronic acid in rats. Materials and Methods: Forty Wistar Albino rats allocated into 4 experimental groups: platelet-rich fibrin (PRF) group, noncross-linked hyaluronic acid gel (HA) group, demineralized bone matrix in putty form (DBM) group, and control group. A critical-sized defect of 8 mm was formed involving the sagittal suture for each rat under anesthetic induction. All animals were sacrificed at 21st day after surgery and histomorphometric parameters of total horizontal length (THL) and total vertical length (TVL) of newly produced bone and longest bone trabecula (LBT) were measured in the histologic slides. The difference between experimental groups for these parameters was analyzed. Results: There was statistically significant difference in THL and LBT but not in TVL. Total horizontal length was significantly increased in DBM group compared with control and HA groups (P < 0.05). There was also statistically significant increase in THL in PRF group compared with control group (P < 0.05). Longest bone trabecula significantly increased in DBM group compared with HA group (P < 0.05). There was also statistically significant increase in HA group compared with control group (P < 0.05) and LBT significantly increased in PRF group compared with HA group (P < 0.05). Conclusion: The sole usage of HA does not effectively increase bone regeneration when compared with DBM and PRF. The DBM and PRF do not have superiority to each other in the bone regeneration while they are superior to HA.

Primary extraskeletal Ewing's sarcoma of the maxillary sinus☆

Ewing’s sarcoma was identified by James Ewing in 1921 as a perivascular endothelial tumor. Since the 1980s, it has been believed that this tumor originates from mesenchymal, myeloid, or primitive multipotential cells. Although it mostly originates from bones of lower extremities, it can also arise from soft tissues such as paravertebral region. These small round cell tumors have been termed Ewing’s Sarcoma (ES)/Peripheral Primitive Neuroectodermal Tumor (PNET) and include ES of the bone, extraskeletal ES, PNET and Askin’s tumor. Extraskeletal ES rarely occurs in the head and neck localization, account for only 1--4% of all ES, and usually prefers mandibula. However, there are few reports in the literature of ES arising from maxillary sinuses. The gender distribution is equal and nearly half of the patients in age between 10 and 20 years old, while 70% are under the age of 20. The patients usually presented with painless swelling and symptoms such as anemia, leukocytosis, weight loss, nasal congestion (based on the location), vision loss,

Mucoepidermoid Carcinoma of Hard Palate in a Pediatric Case

Salivary gland neoplasms are rare in childhood. Only 1 to5.5% of minor salivary gland tumours occur in children and adolescents. The most common malignant minor salivary gland tumours are mucoepidermoid carcinomas (MECs). Herein, we present a rare case of mucoepidermoid carcinoma occuring in the hard palate. Presentation of Case: A 12-year-old boy visited our hospital with a swelling and ulceration of the right hard palate. Clinical examination revealed a localized mucosal nodule of the right posterior hard palate, measuring 1*1 cm. Biopsy was performed. The tumour was diagnosed as a low grade MEC. Wide excision was performed. The patient didn’t need another therapy. During 15-month follow-up, the patient showed no evidence of local tumour recurrence or metastasis. Discussion: Mucoepidermoid carcinoma occurring in the oral cavity is extremly rare. These tumours are usually presenting as a painless, reddish-purple nodule. Biopsy is necessery for definitive diagnosis. Histologically, MECs are divided into low, intermediate and high grade subtypes. Differantial diagnosis of palatal tumours in children include pleomorphic adenoma, benign or malignant mesenchymal tumours, and less commonly giant cell granuloma. A wide local excision with safe free margins is the operative procedure for low-grade MECs.

Second Case Report of Myxofibrosarcoma of Larynx

A 47 year-old woman admitted to the hospital with progressive hoarseness. On the physical examination of larynx, a 2.5 cm mass was detected on the left arytenoid area. The tumor was totally excised and histopathologic diagnosis was consisted with myxofibrosarcoma of intermediate grade. Myxofibrosarcoma is common soft tissue sarcoma mainly occur in the extremities. Head and neck region is seldom becoming a host for soft tissue sarcomas including myxofibrosarcoma. Here in, we present the second case of laryngeal MFS with its clinicopathological features, differential diagnosis, treatment modalities and prognostic factors with the review of the literature.

Rare congenital pulmonary malformation with diagnostic challenging: congenital pulmonary lymphangiectasia, report of four autopsy cases and review of literature

Abstract Congenital pulmonary lymphangiectasia (CPL) is a rare congenital disorder that typically presents with intractable respiratory failure in the first few days of life. There is an association non-immun hydrops and CPL. In this study we reviewed four CPL cases between January2006 and January 2014 among 684 fetal-pediatric autopsies. All cases were in the second trimester. In light microscopy there were marked dilatated channels in the subpleural -peribronchial-subseptal region of the lungs. The channels were lined with flattened cells which were expressing CD 31 and D2-40, negative for CD34. Although pulmonary interstitial emphysema (PIE) was considered an important differential diagnosis, a giant cell reaction surrounding the interstitial cystic lesions, a histological hallmark of PIE. CPL is characterized by dilatation of the pulmonary lymphatic vessels and occurs as a congenital anomaly. Noonan classified it into three groups. Primary developmental defect of pulmonary lymphatics is group 3. Group 3 is called also as CPL; normal regression of the connective tissue elements fails to occur after the 16th week of fetal life, associated with an aggressive clinical course, poor prognosis. In fetal autopsy examination CPL should be recognized if there is a fetus with pleural effusion, non-immune hydrops. There is no clinical evidence for CPL.