Perinatal diagnosis of congenital urogenital sinus abnormality.

Anomalies of the urogenital sinus, which is a transient feature of the early human embryological development, are rare birth defects. Urogenital sinus abnormalities commonly present as pelvic masses, hydrometrocolpos, or ambiguous genitalia and most commonly occur within the context of congenital adrenal hyperplasia. Anomalies of the urogenital sinus requires surgical repair. We experienced a case of a female newborn with congenital urogenital sinus abnormality in which the early diagnosis helped us to prevent complications by decompressing the vagina soon after birth. Antibiotic prophylaxis was sufficient to avoid infections and to decompress the genitourinary system, thus allowing a deferred elective surgery to correct the sinus.

Neonatal diagnosis of circumferential skin creases.

BACKGROUND: Circumferential skin creases is a rare and heterogeneous disorder characterized by multiple and redundant skin folds, which can present as an isolated feature or in association with other phenotypic anomalies. Here, we report the case of a newborn who immediately captured our attention because of his phenotype. CASE: A male Caucasian infant was born at 39 weeks and 4 days of gestational age with an instrumental delivery, after a pregnancy characterized by threat of preterm birth at 32 weeks. Fetal ultrasounds were reported to be normal. The patient was the first child of non-consanguineous parents. Anthropometry at birth: weight 3.590 kg (0.57 SDS); length 53 cm (1.73 SDS); cranial circumference 35.5 cm (0.83 SDS). Clinical examination soon after birth revealed multiple, asymmetric and deep skin folds involving forearms, legs and lower eyelids (right > left). These folds seemed not to cause any physical discomfort. In addition, hypertrichosis, micrognathia, low-set ears and a thin, down-turned border of upper lip were observed. Cardio-respiratory, abdominal and neurological examination was unremarkable. There was no family history of similar appearance or other physical abnormalities. Given the clinical picture, an array-CGH was performed, which was normal. A genetic counseling was requested and Circumferential Skin Creases disorder was diagnosed based on the typical cutaneous involvement and, given the absence of other clinical signs, it was supposed a benign evolution, with skin folds tending to disappear over time. In addition, the baby's DNA was requested for a targeted genetic analysis, which resulted negative. CONCLUSIONS: This clinical case underlines the need of performing a detailed neonatal physical examination in order to realize a timely diagnostic approach. Our patient presented with multiple skin folds, facial dysmorphism but normal systemic and neurological examination. Anyways, since Circumferential Skin Creases may be associated with later neurological symptoms, a regular reevaluation is recommended.

Statins in Children, an Update.

Since lipid abnormalities tend to progress from childhood to adulthood, it is necessary to early identify and treat children and adolescents with dyslipidemia. This is important in order to reduce the cardiovascular risk, delay the development of fatty streaks, slow the progression of atherosclerosis and reverse atherosclerotic plaques. Together with therapeutic lifestyle changes, statins are the most common lipid-lowering drugs. By inhibiting the endogenous cholesterol synthesis in the liver, statins increase the catabolism of LDL-C, reduce VLDL-C, IDL-C and TG and modestly increase HDL-C. Regardless of their lipid-lowering effect, statins have also pleiotropic effects. Statins have increasingly been prescribed in children and adolescents and mounting evidence suggests their beneficial role. As with adults, in children, several studies have demonstrated that statin therapy is efficient at lowering lipid levels and reducing CIMT progression and cumulative estimated atherosclerotic burden in children. Statins are generally very well-tolerated in both adults and children and adverse events are quite uncommon. When evaluating the need and the timing for statin treatment, the presence of several factors (secondary causes, familial history, additional risk factors) should also be considered. Before initiating statins, it is imperative for clinical practitioners to consult patients and families and, as with any new medication therapy, to monitor patients taking statins. Despite being safe and effective, many children with lipid disorders are not on statin therapy and are not receiving the full potential benefit of adequate lipid-lowering therapies. It is therefore important that clinicians become familiar with statins.

Treatment of Dyslipidaemia in Children.

Childhood dyslipidaemia is one of the main traditional cardiovascular risk factors that initiate and exacerbate the atherosclerotic process. Healthcare providers may play a key role in the management of children with lipid abnormalities; however, they have to properly evaluate the normal lipid values and know the available treatment options in children and adolescents. Current guidelines recommend healthy behaviours as the first-line treatment for childhood dyslipidaemia. The therapeutic lifestyle changes should focus on dietary modifications, daily physical activity, reduction in body weight and tobacco smoking cessation. Parents play a key role in promoting their children's healthy habits. In children with more severe forms of lipid abnormalities and in those who do not benefit from healthy behaviours, pharmacological therapy should be considered. Safe and effective medications are already available for children and adolescents. Statins represent the first-line pharmacological option, while ezetimibe and bile acid sequestrants are usually used as second-line drugs. Despite their limited use in children, other lipid-lowering agents (already approved for adults) are currently available or under study for certain categories of paediatric patients (e.g., familial hypercholesterolemia). Further studies are needed to evaluate the long-term efficacy, safety and tolerability of novel lipid-lowering drugs, especially in children.

Skeletal muscle V̇o2 kinetics by the NIRS repeated occlusions method during the recovery from cycle ergometer exercise.

Near-infrared spectroscopy (NIRS) has been utilized as a noninvasive method to evaluate skeletal muscle mitochondrial function in humans, by calculating muscle V̇o2 (V̇o2m) recovery (off-) kinetics following short light-intensity plantar flexion exercise. The aim of the present study was to determine V̇o2m off- kinetics following standard cycle ergometer exercise of different intensities. Fifteen young physically active healthy men performed an incremental exercise (INCR) up to exhaustion and two repetitions of constant work-rate (CWR) exercises at 80% of gas exchange threshold (GET; MODERATE) and at 40% of the difference between GET and peak pulmonary V̇o2 (V̇o2p; HEAVY). V̇o2p and vastus lateralis muscle fractional O2 extraction by NIRS (Δ[deoxy(Hb+Mb)]) were recorded continuously. Transient arterial occlusions were carried out at rest and during the recovery for V̇o2m calculation. All subjects tolerated the repeated occlusions protocol without problems. The quality of the monoexponential fitting for V̇o2m off-kinetics analysis was excellent (0.93≤r2≤0.99). According to interclass correlation coefficient, the test-retest reliability was moderate to good. V̇o2m values at the onset of recovery were ~27, ~38, and ~35 times higher (in MODERATE, HEAVY, and INCR, respectively) than at rest. The time constants (τ) of V̇o2m off-kinetics were lower (P < 0.001) following MODERATE (29.1 ± 6.8 s) vs. HEAVY (40.8 ± 10.9) or INCR (42.9 ± 10.9), suggesting an exercise intensity dependency of V̇o2m off-kinetics. Only following MODERATE the V̇o2m off-kinetics were faster than the V̇o2p off-kinetics. V̇o2m off-kinetics, determined noninvasively by the NIRS repeated occlusions technique, can be utilized as a functional evaluation tool of skeletal muscle oxidative metabolism also following conventional cycle ergometer exercise.NEW & NOTEWORTHY This is the first study in which muscle V̇o2 recovery kinetics, determined noninvasively by near-infrared spectroscopy (NIRS) by utilizing the repeated occlusions method, was applied following standard cycle ergometer exercise of different intensities. The results demonstrate that muscle V̇o2 recovery kinetics, determined noninvasively by the NIRS repeated occlusions technique, can be utilized as a functional evaluation tool of skeletal muscle oxidative metabolism also following conventional cycle ergometer exercise, overcoming significant limitations associated with the traditionally proposed protocol.