[Compound heterozygosis with novel AQP2 gene mutation in sisters affected by autosomal congenital nephrogenic diabetes insipidus].

Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder, mostly caused by antidiuretic hormone receptor type 2 (ADHR2) gene mutations, which are inherited as X-linked traits. Less than 10% of cases are due to mutations in the aquaporin-2 (AQP2) gene, inherited in autosomal recessive or dominant manner. We report the case of two adult sisters, of 30 and 27 years of age, diagnosed in early infancy with X-linked CNDI.

Retrospective comparison of two different approaches for ultrasound-guided internal jugular vein cannulation in hemodialysis patients.

Background: Prevalent hemodialysis patients with vascular access consisting of a central venous catheter (CVC) are continuously increasing over the years. Improvement in evolution and CVC placement procedures represents therefore an essential tool to enhance performance and reduce intraoperative and long-term CVC complications. Internal jugular vein (IJV) catheterization techniques are different according to ultrasound probe position in relation to vein axis and to needle direction in relation to ultrasound beam.

Congenital diaphragmatic hernia: endotracheal fluid phospholipidic profile following tracheal occlusion in an experimental model.

Objective: To compare endotracheal fluid (EF) and amniotic fluid (AF) phospholipidic profile changes following tracheal occlusion (TO) in the congenital diaphragmatic hernia (CDH) fetal lamb model, in order to support the efficacy of TO on lung maturity.

Methods: A diaphragmatic defect was induced at 70 days' gestation, TO was carried out at day 102 and cesarean section at 136 days' gestation. EF and AF samples, collected at delivery, were evaluated using mass spectrometry (the analysis focused on palmitoyloleoyl-phosphatidylcholine [POPC, PC(18:1/16:0)], dipalmitoyl-phosphatidylcholine [DPPC, PC(16:0/16:0)] and sphingomyelins [SMs]).

Phospholipid profile of amniotic fluid in ovine model of congenital diaphragmatic hernia (CDH): the effect of fetal tracheal occlusion.

Fetal endoscopic tracheal occlusion has been proposed as a prenatal intervention to ameliorate congenital diaphragmatic hernia (CDH) prognosis. Tracheal occlusion (TO) prevents pulmonary fluid egress, leading to tissue expansion, reversal of lung hypoplasia, and potential maturation. Fetal lung maturity strongly correlates with amniotic fluid (AF) phospholipidic composition.

[Peritoneal dialysis in adult patients with prune belly syndrome: an impossible challenge?].

Prune belly syndrome (PBS) is a rare congenital syndrome characterized by hypoplasia of the abdominal muscles, urinary tract malformations, and cryptorchidism in males. The estimated incidence is 1 in 35,000 to 50,000 live births. Chronic renal failure and end-stage renal disease (ESRD), due both to different degrees of renal hypoplasia or dysplasia and infectious complications, develops in 20-30% of patients who survive the neonatal period.

Catalyst activity or stability: the dilemma in Pd-catalyzed polyketone synthesis.

A series of Pd-complexes containing nonsymmetrical bis(aryl-imino)acenaphthene (Ar-BIAN) ligands, characterized by substituents on the meta positions of the aryl rings, have been synthesized, characterized and applied in CO/vinyl arene copolymerization reactions. Crystal structures of two neutral Pd-complexes have been solved allowing comparison of the bonding properties of the ligand. Kinetic and mechanistic investigations on these complexes have been performed.

[Acute heart failure secondary to takotsubo cardiomyopathy in a patient on peritoneal dialysis with residual renal function loss].

Takotsubo cardiomyopathy (TTC) is characterized by clinical and electrocardio-graphic signs that mimic myocardial ischemia, typical left ventricular kinesis abnormalities, and no evidence of obstructive coronary disease. It is associated with emotional or physical stress usually in postmenopausal women. A major pathogenetic role is played by excessive sympathetic stimulation of the left ventricle.