Neuronal Ceroid Lipofuscinosis Across Species: A Fatal Hereditary Neurodegenerative Disease | Chapter 3 | An Overview of Disease and Health Research Vol. 1

Neuronal ceroid lipofuscinosis (NCL) is a rare, fatal inherited lysosomal storage disease characterised by progressive neurodegeneration and intracellular accumulation of autofluorescent lipopigment in neurons and other body cells. It is caused by pathogenic mutations of genes. Currently there are 14 forms of NCL designated as CLN1, CLN2, CLN3, CLN4, CLN5, CLN6, CLN7, CLN8, CLN9, CLN10, CLN11, CLN12, CLN13, and CLN14. Defects in different genes are the basis of the various forms of NCL. This chapter provides a review of the current knowledge on NCL, particularly the aetiology, transmission, epidemiology, predisposing factors, clinical signs, diagnosis, differential diagnosis, control, and treatment of the disease. It also outlines some challenges or gaps in current NCL research, discusses the significance of research findings in the broader context of neurodegenerative diseases, and recommends the way forward towards control of NCL.

 

Author (s) Details

Seleman Nasib Masola
Tanzania Livestock Research Institute (TALIRI), Southern Highlands Zone, P.O. Box 6191, Mbeya, Tanzania.

 

Please see the book here:- https://doi.org/10.9734/bpi/aodhr/v1/5314

 

“Duct-Road Sign”: Differentiating Pancreatic Neuroendocrine Tumors from Pancreatic Ductal Adenocarcinomas | Chapter 12 | New Horizons in Medicine and Medical Research Vol. 10

 The current study hypothesis emphasises the existence of possible indications of the main pancreatic duct (MPD) in this scenario, especially in atypical (nonhypervascular) PNETs, which would assist in differential diagnosis and avoid misinterpretation. As a result, the current investigation was carried out to look for possible MPD imaging signals in MRI for PNETs. The institutional review boards of our two tertiary institutions gave their approval to this retrospective investigation. The study was conducted in compliance with the Helsinki Declaration of 1983; however, due to the retroactive nature of the investigation, informed consent was not required. To evaluate the association between MRI diagnosis for PNETs and the frequency of duct-road sign appearing on MRI, a Spearman correlation coefficient (r) was determined. For the objective of distinguishing PNETs from PDACs in a broad sense, the duct-road indication had a sensitivity of 84 percent and a specificity of 100 percent as a criteria for PNET. The specificity was also 100 percent if the duct-road sign was characterised as a "typical curving road sign" of type II in the limited sense. In addition, when PNET enhancement is abnormal (heterogeneous and nonhypervascular on MRI), the duct-road sign might be a useful indirect characteristic in this situation. As a result, we advocate this novel imaging sign, duct-road sign, which is similar to "various paths of the MPD" and may be useful in correlating PNETs rather than PDACs. The duct-road sign, in addition to typical imaging findings, has a strong correlation with the differential diagnosis of PNET and may be useful in distinguishing between the two PDACs produce PNETs. TDR analysis in MRI with a point > 7.7 might also be utilised to identify PNET rather than PDAC.

Author(S) Details

Bo Xiao
Department of Radiology, Zhongnan Hospital of Wuhan University, Wuhan University, Wuhan, China and Sichuan Key Laboratory of Medical Imaging, Department of Radiology, China.

Zhi-Qiong Jiang
Department of Geratology, Affiliated Hospital of North Sichuan Medical College, Nanchong, PR China.

Jin-Xiang Hu
Department of Radiology, Zhongnan Hospital of Wuhan University, Wuhan University, Wuhan, China.

Xiao-Ming Zhang
Sichuan Key Laboratory of Medical Imaging, Department of Radiology, China.

Hai-Bo Xu
Department of Radiology, Zhongnan Hospital of Wuhan University, Wuhan University, Wuhan, China.

View Book:- https://stm.bookpi.org/NHMMR-V10/article/view/6964

Investigating the Differentiation of Exophytic Renal Masses with Determination of the Angular Interface to Renal Parenchyma in US and CT| Chapter 9 | Current Topics in Medicine and Medical Research Vol. 8

 Aims: Using the angular interface sign in ultrasonography (US) and computerised tomography ( CT) to assess if benign exophytic renal masses can be differentiated from malignant lesions. Background: For the interpretation of charecteristics of the cystic renal masses, the Bosnian classification of renal cysts has been widely used. Although the known sensitivity , specificity and time consumption values contrast with improved modalities for further evaluation of the Bosnian 3 or higher group, a biopsy is also needed. Materials and methods: A total of 71 cases of exophytic renal mass (2 cm or more) were investigated in the US (n = 23), CT (n = 21) and US + CT (n = 16) on the basis of angular interface between January 2008 and June 2010 and were included in this report. Two radiologists studied the renal interface relationships and categorised them as having an angular or broad interface. Results: Renal mass diagnosis with a specific indication is a reference for further assessment and treatment of these lesions. In this way, unnecessary, time-saving and cost-effective surgical procedures can be avoided. Exophytic renal masses with high specificity (91 percent) and precision (87 percent) can be distinguished as malignant or benign using only the angular interface sign in the US or CT as well. No statistically significant difference between the two readers' findings was found. For the device symbol, there was nearly perfect interobserver agreement. For cystic lesions, in all but two Bosnian Category 1 cases, the angular interface sign was calculated. In the malignant community, in only two cases of renal cell carcinoma, the angular interface sign was determined; there was a large interface sign in other primary or metastatic malignant lesions. Conclusion: with 87 percent precision, exophytic renal masses can be distinguished as malignant or benign with only the angular interface sign in US or CT and often in opposition to dynamic-contrast examinations. This approach includes a lack of additional exposure to radiation or contrast media, time savings, and cost effectiveness.

Author(s) Details

Duzgun Yildirim
Department of Radiology, Acıbadem University, Istanbul, Turkey.

Halil Bozkurt

Department of Urology, Izmır Buca Training and Research Hospital, Izmır, Turkey.

Abdullah Cirakoglu

Department of Urology, Ordu Training and Research Hospital, Ordu, Turkey.

Mutlu Sahin
Department of Surgery, University of Health Sciences Keçiören Training and Research Hospital, Ankara, Turkey.

Bengi Gurses
Department of Radiology, Koç University Hospital, Istanbul, Turkey.

Baki Ekci
Department of Surgery, Yeditepe University Hospital, Istanbul, Turkey.

Özlem Güngör
Department of Radiology, Sancaktepe Professor İlhan Varank Training and Research Hospital, Istanbul, Turkey.

View Book :- https://bp.bookpi.org/index.php/bpi/catalog/book/316