Primary hyperoxaluria type 3: from infancy to adulthood in a genetically unique cohort.

Background: Primary hyperoxaluria type 3 (PH3) is a rare autosomal recessive disorder caused by bi-allelic genetic variants in the 4 hydroxy-2 oxoglutarate aldolase (HOGA-1) gene. We report the natural history of PH3 in a 16-patient cohort, 15 from a unique genetically isolated population.

Methods: This retrospective single-center study followed PH3 patients between 2003 and 2023 with demographic, clinical, radiographic, genetic, and biochemical parameters.

Overcoming reduced hepatic and renal perfusion caused by positive-pressure pneumoperitoneum.

Hypothesis: Use of the intermittent sequential pneumatic compression (ISPC) device may improve splanchnic and renal perfusion caused by positive-pressure pneumoperitoneum (PPP) in patients undergoing laparoscopic cholecystectomy.

Design: Prospective controlled study.

Setting: University hospital.

Incidental detection of a transmigrated intrauterine device.

The intrauterine device (IUD) is among the most effective forms of birth control available, with important advantages over other methods of contraception. The most striking adverse event associated with IUD use is uterine perforation and migration of the device. Contrary to what one might assume, perforation is often silent and the wayward device is either detected after further sequellae or found incidentally by imaging.

Papillary cystic neoplasm of the pancreas in a teenage boy.

We present a case of a 13-year-old boy with a left-sided abdominal mass which proved to be a papillary cystic neoplasm of the pancreas. This low-grade malignant lesion of young patients is very rare, and exceedingly rare in males. The prognosis following resection of this tumor is good.

Rhabdomyosarcoma in a child with massive pleural effusion: cytological diagnosis from pleural fluid.

We report on a case of embryonal rhabdomyosarcoma in an 11-yr-old boy investigated for mild chest pain after trauma. Chest radiography showed a massive right pleural effusion. Cytological analysis of the pleural fluid demonstrated the presence of malignant small undifferentiated cells.