APPLICATION OF TARGETED HIGH-THROUGHPUT SEQUENCING AS A DIAGNOSTIC TOOL FOR NEONATAL GENETIC METABOLIC DISEASES FOLLOWING TANDEM MASS SPECTROMETRY SCREENING

BackgroundTandem mass spectrometry (MS/MS) is a crucial technique for detecting inborn errors of metabolism (IEM) in newborns.However, the high false positive rate poses challenges in diagnosing specific types of diseases.Therefore, this study aimed to evaluate the role of targeted next-generation sequencing (NGS) in the accurate diagnosis of posit

A juvenile specimen of Delorhynchus cifellii, collected from the Early Permian fissure-fill deposits of Richards Spur, Oklahoma, permits the first detailed study of cranial COLOR REMOVER ontogeny in this parareptile.The specimen, consisting of a partially articulated skull and mandible, exhibits several features that identify it as juvenile.The der

Choledochal cysts are rare Hand Wash congenital anomalies that have a variable presentation with occasional diagnostic and therapeutic dilemmas.Our case is a 14-year female presented with recurrent abdomen pain with confusing diagnostic findings, suggestive of a large choledochal cyst (22x29x17cm) initially managed by percutaneous tube biliary drai

Postoperative imaging of musculoskeletal tumors poses a significant diagnostic challenge for radiologists.The complexity arises from the need to differentiate between expected postoperative changes, potential complications, and local recurrence.The choice of imaging modality depends on the type of primary tumor.Standard radiological modalities such

Pure testicular choriocarcinoma is an extremely rare subtype of nonseminomatous germ cell tumor, accounting for less than 1% of all germ cell tumors and only 0.19% of all testicular tumors.It is a highly aggressive malignant tumor with early multiorgan metastasis and poor prognosis.We present a case of 23-year-old male presented to the hospital wit