Could arterial stiffness be early reversible target organ damage test in childhood hypertension?

Objective: The recommended treatment for hypertension (HTN) in children has been revised recently. This study aimed to present the changes in target organ damage (TOD) and arterial stiffness parameters after treatment in children with primary HTN who were managed in accordance with the 2016 European Society of Hypertension Guidelines.

Methods: Patients with primary HTN included in this study were newly diagnosed, untreated, and were followed-up for a minimum of 6 months.

A Case of the Perinatal Form Hypophosphatasia Caused by a Novel Large Duplication of the Gene and Report of One Year Follow-up with Enzyme Replacement Therapy.

Hypophosphatasia (HPP) is a rare disease caused by mutations in the gene encoding tissue-non-specific isoenzyme of alkaline phosphatase (TNSALP). Duplications of the gene account for fewer than 1% of the mutations causing HPP. It has been shown that asfotase alfa enzyme replacement treatment (ERT) mineralizes the skeleton and improves respiratory function and survival in severe forms of HPP.

Anesthetic management of a neonate with congenital diaphragmatic hernia under high-frequency oscillatory ventilation.

Perioperative management of a neonate with congenital diaphragmatic hernia (CDH) is challenging because of pulmonary hypoplasia, pulmonary hypertension, and respiratory insufficiency. In this report, we present our intra-operative experience in a 4-days old and 3070 grams CDH neonate. He was admitted to neonatal intensive care unit and intubated due to severe respiratory insufficiency.

Glycogen storage disease type 0 due to a novel frameshift mutation in glycogen synthase 2 (GYS2) gene in a child presenting with fasting hypoglycemia and postprandial hyperglycemia.

Hacıhamdioğlu B, Özgürhan G, Çaran B, Meydan-Aksanlı E, Keskin E. Glycogen storage disease type 0 due to a novel frameshift mutation in glycogen synthase 2 (GYS2) gene in a child presenting with fasting hypoglycemia and postprandial hyperglycemia. Turk J Pediatr 2018; 60: 581-583.