scholarly journals Intra-individual Genomic Variation Analysis in Tissues (Blood vs. Testis) Through SNP Microarray: A Case Report of Two Patients with Idiopathic Sertoli Cell Only Syndrome (SCOS)

Author(s):  
Aiyush Sharma ◽  
Ashutosh Halder ◽  
Seema Kaushal ◽  
Manish Jain

Background: Sertoli cell only syndrome (SCOS) or germ cell aplasia is characterized by the existence of only sertoli cells in the seminiferous tubule without any germ cells. SCOS is a multifactorial disorder but genetic factors play a major role in pathogenesis of idiopathic SCOS. Case Presentation: Two cases of idiopathic SCOS had been reported with no non-genetic factor in their medical history that could play a role in aetiology of SCOS. Also, two normal fertile males were recruited as controls in this study. For evaluation of genomic imbalance, karyotyping (G-banding), FISH, STS-PCR and SNP microarray were carried out. SNP microarray was carried out in DNA of peripheral blood for cases as well as controls. However, for cases, SNP microarray was conducted in DNA of testicular Fine needle aspiration cytology (FNAC). Conclusion: No chromosome abnormality and Yq microdeletion was found in cases as well as in controls. Microarray detected many CNVs and LOH that cover genes with spermatogenesis related function and PAR CNVs in both cases. Differential genomic variations were found in blood and testis for cases. Therefore, the evaluation of pathogenesis of idiopathic SCOS might be dependent on both tissue samples. The evaluation of genomic imbalances at both tissue levels should be done for a large cohort of patients.

2020 ◽  
Vol 36 (1) ◽  
Author(s):  
Indumathi Ainer ◽  
Hardip Singh Gendeh ◽  
Salina Binti Husain ◽  
Khadijah Mohd Nor

Abstract Background Histiocytic system consists of phagocytes and dendritic cells. Both are found in lymph nodes. Usually, this disorder presents with painless cervical lymph node enlargement hence frequently mistaken for lymphoma or tuberculosis. Case presentation Here, we report three pediatric cases: one of Langerhans cell histiocytosis and two of sinus histiocytosis and massive lymphadenopathy with neck mass as initial presentation. The final diagnosis was made with fine needle aspiration cytology, biopsy, and ancillary tests. Conclusion Biopsy and immunohistochemistry studies are recommended for determining subtypes of histiocytosis and further management of patient.


2015 ◽  
Vol 27 (5) ◽  
pp. 812 ◽  
Author(s):  
Eliana Pintus ◽  
José Luis Ros-Santaella ◽  
José Julián Garde

The aim of the present study was to evaluate spermatogenesis in Iberian red deer, a short-day seasonal breeder, using the fine needle aspiration cytology (FNAC) technique. Reports on spermatogenesis in deer are limited and here, for the first time, FNAC has been used to evaluate changes in such physiological process during and out of the breeding season. Testes were collected from 51 stags from November 2010 to February 2011. The Sertoli index and spermatic index were significantly higher during the breeding season than out of the breeding season (P = 0.0477 and P = 0.0125, respectively). A similar pattern was described by histological analysis, in which both Sertoli cell number per tubular cross-section and Johnsen score decreased significantly from the breeding season to the non-breeding season (P = 0.0131 and P = 0.0010, respectively). Data provided by FNAC were correlated with histology: the Sertoli index was positively correlated with Sertoli cell number per tubular cross-section (P = 0.0015), whereas the spermatic index was correlated with the Johnsen score (P = 0.0497). The results of the present study indicate that FNAC is a reliable technique to evaluate spermatogenesis in Iberian red deer and suggest that Sertoli cell number is not stable in these species, reaching highest values during the breeding season.


2021 ◽  
Vol 8 (1) ◽  
pp. C6-9
Author(s):  
Challa Sukumar ◽  
Aarzoo Jahan ◽  
Shakti Kumar Yadav ◽  
Sompal Singh ◽  
Namrata Sarin

Teratomas are tumours which are derived from all the 3 germ cell layers: endoderm, mesoderm and ectoderm with varying proportions. Cervical teratomas in children are almost always benign but locally aggressive. They can present with respiratory distress and immediate excision is required. The cervical teratoma is an uncommon entity which are rarely reported in Indian medical literature particularly on FNA. We present a case of an anterior cervical teratoma in an infant which was diagnosed on the base of FNA material.


Author(s):  
Gaetano Achille ◽  
Marco Castellana ◽  
Sabino Russo ◽  
Massimo Montepara ◽  
Vito Angelo Giagulli ◽  
...  

Background and Objective: Zenker Diverticulum (ZD) can sometimes be misinterpreted as a thyroid nodule both at clinical evaluation and at Ultrasound (US). </P><P> Case Presentation: We reported the case of a 46-years-old woman complaining of a lump in the anterior left aspect of the neck. Following clinical examination and US evaluation, a thyroid nodule was initially diagnosed and the patient was referred to our institution to be submitted to a fine-needle aspiration cytology. </P><P> Management and Outcome: A ZD was suspected by US and diagnosed by gastrografin esophagram, thus an endoscopic diverticulotomy was requested. Conclusion: A correct US evaluation can be crucial for the appropriate management of a neck mass.


2014 ◽  
Vol 19 (2) ◽  
pp. 110-118
Author(s):  
Mohammad Amzad Hossain ◽  
Md Zahedul Alam ◽  
Md Rojibul Haque ◽  
Md Nazmul Haque ◽  
KM Nurul Alam ◽  
...  

Objective: To evaluate the role of Fine Needle Aspiration Cytology in the preoperative diagnosis of malignancy in parotid and submandibular gland neoplasm. Methods: This cross sectional study on 50 cases was conducted in the Department of Otolaryngology and Head-Neck Surgery of Sir Salimullah Medical College Mitford Hospital and Dhaka Medical College Hospital from January’2009 to June 2010. Results: Fine needle aspiration cytology findings of our all 50 cases were compared with postoperative histopathological reports. Out of the 50 cases, in 36(72%) cases of benign neoplasm and 7(14%) cases of malignant neoplasm, pre-operative FNAC findings and post operative histopathological findings were same. In 7 cases, FNAC and post operative histopathological findings did not matched. These were 2 (4%) false positive and 5 (10%) false negative result.In our study sensitivity of FNAC for reporting malignancy was 58.33%, specificity to rule out malignancy was 94.73% and overall accuracy in detecting malignant tumour was 86%. Positive predictive value and negative value were 77.77% and 87.80% respectively. It can be concluded that fine needle aspiration cytology is a safe, cheap and useful preoperative diagnostic tool in the diagnosis of malignancy in parotid and submandibular gland, but as fine needle aspiration cytology partly depends on operator skill, it may give false negative and false positive result. Conclusion: FNAC is a useful preoperative diagnostic tool for malignant parotid and submandibular glands with high specificity and sensitivity. DOI: http://dx.doi.org/10.3329/bjo.v19i2.17634 Bangladesh J Otorhinolaryngol 2013; 19(2): 110-118


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