Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing.

Biallelic pathogenic variants in the gene PYROXD1 have recently been described to cause early-onset autosomal recessive myopathy. Myopathy associated with PYROXD1 pathogenic variants is rare and reported in only 17 individuals. Known pathogenic variants in PYROXD1 include missense, insertion and essential splice-site variants.

Spontaneous Rupture of the Gravid Uterus in a Postmenopausal Woman Receiving Fertility Treatment.

Uterine rupture is an uncommon obstetric emergency that is potentially fatal to the mother and fetus. Spontaneous rupture of the unscarred gravid uterus in postmenopausal women who achieve pregnancy through in vitro fertilization (IVF) has been infrequently described in the literature. We present the case of a 72-year-old postmenopausal woman, gravida 1 para 0, who conceived by donor oocyte IVF in Europe and subsequently suffered uterine rupture at 22 weeks gestation with large hemoperitoneum.

Imaging appearance of entrapped periosteum within a distal femoral Salter-Harris II fracture.

Salter Harris II fractures of the distal femur are associated with a high incidence of complications, especially premature physeal closure. Many risk factors for this high rate of premature physeal closure have been proposed. More recently, entrapment of periosteum within the physis has been suggested as an additional predisposing factor for premature physeal closure.

Nuclear scintigraphy findings for Askin tumor with In111-pentetreotide, Tc99m-MIBI and F18-FDG.

Askin tumor is a rare disease which had previously been reported as being thallium-201 and gallium-67 avid. Varying data regarding 18F- fluorodeoxyglucose metabolism has been described with Ewing family of soft tissue tumors. In this case, we present a patient found to have an Askin tumor of the left chest wall which demonstrated indium-111 pentetreotide and technetium-99m MIBI avidity.