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    The Effectiveness of Rectal Suction Biopsy in the Diagnosis of Hirschsprung's Disease
    (Galenos Publ House, 2023) Bilir, Cemal; Oztan, Mustafa Onur; Diniz, Gulden; Ozdemir, Tunc; Sayan, Ali; Koyluoglu, Gokhan
    Objective: In order to analyse the adequacy, sensitivity, and specificity of samples obtained with rectal suction biopsy (RSB) as the standard histopathological diagnostic method in patients with suspected Hirschsprung's disease (HD).Method: This study was carried out between November 2016 and March 2018 with 24 suspected HD patients aged 0-3 years. After calculating rectosigmoid indexes (RSIs) according to barium enema images obtained in contrast -enhanced colon graphies, patients with RSI <1 underwent RSB. Clinical features of patients, treatment options, complications, laboratory test results and radiological findings were recorded for further analyses. An expert pathologist evaluated biopsy specimens, and observations were recorded.Results: There were no ganglion cells in RSB specimens in 10 (41. 6%) patients who received the diagnosis of HD later on. Ganglion cells were detected in specimens of 5 (20. 8%) patients; thus, the diagnosis of HD was excluded. Inadequate or suspicious biopsy specimens for histopathological evaluation were observed in 9 (37. 5%) patients. If the biopsy specimen volume was more voluminous than 4 mm3, its diagnostic sensitivity and specificity for HD were 80% and 66.67%, respectively (area under the curve=0.789); If the submucosa/mucosa ratio was greater than 0.75 or the submucosa/total specimen ratio was greater than 0.42, then the diagnostic sensitivity and the specificity of the specimen for HD were 86.67% and 66.67%, respectively.Conclusion: In this prospective cross-sectional study, we demonstrated that RSB in diagnosing HD is a feasible, safe method with high sensitivity and specificity and low complication rates.
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    Muscular Dystrophies
    (Springer International Publishing, 2023) Baydan, Figen; Tiftikcioglu, Bedile Irem; Diniz, Gulden
    Muscular dystrophies are a group of hereditary and often progressive muscle diseases. Structural or functional mutations in one of the proteins in the extracellular matrix surrounding the muscle fibre, sarcolemma, basement membrane, sarcoplasm, or nucleus can result in dystrophic diseases. According to their pathogenesis, muscular dystrophies exhibit a wide range of clinical features including, age of onset of symptoms, clinical course, pattern and severity of involvement, rate of progression, and concomitant conditions. In this chapter, the questions of what kind of complaints, physical and laboratory examination findings are detected in muscular dystrophies, and what are the genetic causes are answered. Differential diagnosis methods are briefly explained. Examples of patients with their muscle biopsy images, and changes observed in muscle dystrophies are presented. At the end of the chapter, under the title “all about the pathology of muscular dystrophies”, case examples, surprising cases, short clinical histories, and histopathological pictures are presented. © The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2023.
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    The Procedure of Nerve Biopsy
    (Springer International Publishing, 2023) Barutçuoğlu, Mustafa; Atalay, Murat Kaan; Diniz, Gulden
    Nerve biopsy is a special histopathological examination used for determining the differential diagnoses of various diseases with peripheral nerve involvement. Histochemistry, immunohistochemistry, and other advanced methods can clarify many clinical doubts when diagnosing with nerve biopsy. Sometimes, the pathognomonic findings are also seen in the nerve biopsy which confirm the final diagnosis. In this chapter, questions such as how the patients are prepared, which nerves can be selected for biopsy, how large the material should be, how it is sent to the pathology laboratory, and what complications may occur in the biopsy area are answered. Nerve biopsy taking is also explained with pictures and illustrations. © The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2023.