Kidney volume-to-birth weight ratio as an estimate of nephron endowment in extremely low birth weight preterm infants.

In humans, nephrogenesis is completed by 32-36 weeks gestation, with a highly variable total number of nephrons, ranging from 200,000 to over 2 million. Premature birth disrupts the development and maturation of the kidneys, leading to a reduction in the final number of nephrons. Due to significant genetic variability in the number of nephrons among individuals, it is crucial to identify premature infants with fewer nephrons at birth as early as possible. These infants are more susceptible to developing renal failure with advancing age compared to those with a higher nephron endowment. Bedside ultrasound, an effective and non-invasive tool, is practical for identifying newborns with a lower nephron count. However, renal volume alone cannot reliably indicate the number of nephrons due to substantial variability at birth, influenced by gestational age when nephron maturation is incomplete. This variability in kidney volumes persists as newborns grow. In this observational study we hypothesize that the relationship between renal volume and birth weight may serve as an indicator of nephron endowment in premature infants with birth weight less than 1000 g. This finding could represent the basis for defining appropriate surveillance protocols and developing targeted therapeutic approaches.

Cleft Palate and Aortic Dilatation as Clues for Loeys-Dietz Syndrome.

Loeys-Dietz syndrome (LDS) is a rare autosomal-dominant disorder of the connective tissue with some typical vascular findings, skeletal manifestations, craniofacial features, and cutaneous findings with a wide phenotypic spectrum. Six different genes are involved in LDS and the diagnosis is based on the identification of a heterozygous pathogenic variant in TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3, or SMAD2 in children with suggestive findings. These genes distinguish LDS into six classes (LDS1-LDS6, respectively). Delay in diagnosis of Loeys-Dietz syndrome may be associated with an adverse prognosis due to a very high augmented risk of early complications such as aortic or vascular rupture. The present report describes a case of an early diagnosis of LDS in a neonate with cleft soft palate and aortic root dilatation.

Percutaneous treatment of a double-drainage scimitar-like syndrome.

Scimitar syndrome is a rare variant of anomalous right pulmonary vein connection to the inferior vena cava and it is associated with other cardiopulmonary anomalies. It generally requires surgery and sometimes it may go unrecognised into adulthood. We report a unique case of a scimitar syndrome variant in a young adult, who was successfully treated percutaneously, after the first misdiagnosis of arrhythmogenic ventricular cardiomyopathy. The cardiac magnetic resonance unveiled the uncommon anatomical pattern, avoiding surgical repair. Cross-sectional imaging is extremely useful in the diagnosis and treatment planning of CHD in adults.

Balloon angioplasty of aortic coarctation in critically ill newborns using axillary artery access.

Balloon angioplasty may be performed as the first treatment of aortic coarctation to stabilize newborns too sick for immediate surgery. The issue of vascular access is the key to the successful treatment of critical newborns. In our study, we argue that the lesser-known axillary access route is the safest and most effective route of vascular access for balloon angioplasty in infants with aortic coarctation. To support this argument, we present the case of eight unstable newborns with complex heart diseases, who were successfully treated with percutaneous intervention through the axillary artery. This case series is followed by an analysis of the greater efficacy of this technique compared to the more conventional femoral and carotid routes. We conclude by acknowledging the substantial advantages of this lesser-known vascular access and advocate its more widespread clinical implementation in the treatment of critical newborns.

Isolated persistence of the fifth aortic arch in an infant presenting with congestive heart failure.

The persistence of the fifth aortic arch (PFAA) in postnatal life is an extremely rare and controversial cardiovascular malformation. PFAA is defined as an extra-pericardial vessel arising from the ascending aorta proximal to the origin of the brachiocephalic arteries, terminating either in the dorsal aorta or in the pulmonary arteries through the persistently patent arterial duct. An isolated PFAA with systemic-to-pulmonary connection best fits this definition, while the vast majority of cases reported as PFAA may have alternative embryological explanations. We present a unique case of a 5-week-old patient with an isolated PFAA with systemic-to-pulmonary connection, who presented with congestive heart failure. A first differential diagnosis was made with distal aortopulmonary window and an atypical patent arterial duct. A careful analysis of the case and a systematic review of the literature made us conclude for an isolated PFAA, which is one of the only five cases ever reported.

Pulmonary hypertension and Hashimoto's thyroiditis: does a relationship exist?

Several studies examined the possibility that idiopathic pulmonary hypertension is related to thyroid autoimmune diseases. The aim of our study was to highlight the possible correlations between the pulmonary hypertension and Hashimoto's thyroiditis (HT). A total of 93 patients were enrolled, 70 suffering from HT in euthyroidism state and 23 controls. All underwent anthropometric [weight (Kg); height (m); Body Mass Index (Kg/m(2)): waist circumference (cm)] and biochemical [fasting blood glucose (mg/dl), TSH (µUI/mL), FT3 (pg/ml), FT4 (pg/ml), total, HDL and LDL-cholesterol (mg/dl), triglycerides (mg/dl)] evaluations. All patients underwent two-dimensional trans-thoracic echocardiographic evaluations in order to measure systolic (sPAP) and the end-diastolic pressure of the pulmonary artery (dPAP). There were no differences between the two populations regarding anthropometric and biochemical parameters. Patients with HT had higher sPAP values than controls (Hashimoto: 20.06 ± 6.56 mmHg vs controls: 19.96 ± 8.58 mmHg, p = 0.044). Patients with HT had lower dPAP values than controls (2.51 ± 0.90 mmHg vs. controls 3.17 ± 1.58 mmHg, p < 0.0001), and there was a statistically significant difference in the left ventricle ejection fraction between the two groups (60.57 ± 1.60 % in patients with HT vs. 61.04 ± 2.03 % in controls, p = 0.037). The multivariate regression analysis did not confirm such results. We demonstrated that patients with HT did not show relevant pulmonary hypertension when compared to healthy controls.