Nemaline myopathy is a skeletal muscle disorder characterized by a wide range of severity and variable presentation. While most cases present in the neonatal period with symptoms, such as hypotonia, muscle weakness, and respiratory insufficiency, delayed onset in childhood or adulthood is also observed. The pathogenesis of nemaline myopathy involves at least 12 genes, and the condition can arise from de novo mutations or be inherited in a dominant or recessive manner.
View Article and Find Full Text PDFBladder rupture leading to urinary ascites in neonates is a very rare occurrence. It can present as a clinical emergency, requiring resuscitation, ventilator support, and acute derangement in renal function. There are only a few reported cases so far in the literature.
View Article and Find Full Text PDFThere is no consensus about the best treatment for acetabular fracture in older patients. The purpose of this study was to review the current literature looking for indication, perioperative information and outcome of nonoperative management for acetabular fractures in elderly.A systematic review of literature was performed on different research database by using various combination of the keywords "acetabular fracture", "elderly patients", "60 years", "nonoperative", "nonsurgical" and "conservative treatment".
View Article and Find Full Text PDFCOVID-19 pandemic has led to major changes in the delivery of medical care around the globe. Many investigations and elective procedures had to be rescheduled to decrease the risk of spreading the infection. Non-invasive cardiac imaging studies are requested to guide appropriate cardiac care in a variety of urgent, semi-urgent, and elective procedures.
View Article and Find Full Text PDFMultiple pterygium syndrome of lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterised by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpits and fingers. We present a case of lethal multiple pterygium syndrome born at our hospital proven by the genetic analysis showing a double homozygous mutation.
View Article and Find Full Text PDFHepatoblastoma accounts for less than 1% of all pediatric malignancies. However, it remains the most common malignant tumor of the liver in newborns. Less than 10% of hepatoblastoma cases are diagnosed in the neonatal period.
View Article and Find Full Text PDFAm J Perinatol
November 2004
Streptococcus pneumoniae is an uncommon organism identified in neonatal bacteremia, but when it occurs, it has serious implications for both the infant and the mother. Despite the similarities in the manifestations between group B streptococcus and S. pneumoniae sepsis, the latter appears to be more virulent and of marked severity, resulting in significant neonatal mortality.
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