An Old Disease Comes Back: Reporting 2 Cases of Neonatal Measles.

We report two cases of neonatal measles (one congenital and one post natal infection) admitted to our neonatal intensive care unit and discuss the management. This report intend to keep alert against measles and point out the risk for susceptible pregnant women and their offspring in countries with reduction of coverage from anti measles vaccine.

Non-invasive tools for detection of liver disease in children and adolescents with cystic fibrosis.

BACKGROUND: Cystic fibrosis (CF) is a multi-organ genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene which encodes the CFTR protein. CF-associated liver disease (CFLD) is a common complication; diagnosis is based on clinical, laboratory findings and abdominal imaging. However, non-invasive diagnostic approaches are needed to early detect CFLD, its progression and severity. Recent studies demonstrate a possible role of point shear wave elastography (p-SWE) with liver stiffness measurement (LSM) as a tool for CFLD diagnosis also in children. This non-invasive technique measures liver stiffness to assess liver fibrosis and is suggested to be less operator-dependent compared to ultrasonography. Aim of our prospective observational study is to investigate the role of p-SWE with LSM for CFLD diagnosis in children and adolescents with CF and to compare this finding with aspartate aminotransferase to platelet ratio index (APRI), fibrosis index based on four factors (FIB-4) and gamma-glutamyl-transpeptidase to platelet ratio (GPR) indices. METHODS: Fifty-nine children with CF, who had routinely undergone abdominal imaging, were consecutively enrolled. Laboratory findings and clinical data were recorded, as abdominal ultrasound and shear wave elastography at baseline. The cases were divided into two groups based on collected data and classified as CFLD and CFnoLD (without liver disease) according to Debray criteria. APRI, FIB-4 and GPR fibrosis indices were also evaluated. RESULTS: Twenty-four/59 (40.7%) were defined as CFLD. LSM test is superior to the APRI (P<0.001), the FIB-4 test (P=0.001) and the GPR test for early detection of liver fibrosis. LSM had an area under receiver operating characteristic (ROC) curve =0.818 (95% CI: 0.702-0.934) compared with APRI (0.571, 95% CI: 0.421-0.722), FIB-4 (0.656, 95% CI: 0.511-0.801) and GPR (0.632, 95% CI: 0.485-0.779). At a cut-off of ≥6.2 LSM show a sensitivity of 75.0% and a specificity of 88.6%. CONCLUSIONS: LSM by transient p-SWE is a non-invasive, highly accessible, reliable, and reproducible test that can be used to assess early detection of liver fibrosis and its severity in children and adolescents with CF, limiting the use of liver biopsy. These preliminary observations point to the need of larger study population to confirm our data.

Randomised Clinical Trial: Calorie Restriction Regimen with Tomato Juice Supplementation Ameliorates Oxidative Stress and Preserves a Proper Immune Surveillance Modulating Mitochondrial Bioenergetics of T-Lymphocytes in Obese Children Affected by Non-Alcoholic Fatty Liver Disease (NAFLD).

Fatty liver disease is a serious complication of childhood obesity. Calorie-restricted regimen (RCR) is one of the effective therapy for this condition. Aim of the study was to evaluate the effect of lycopene-rich tomato sauce with oregano and basil extracts in obese children with fatty liver on RCR. 61 obese children with fatty liver were enrolled, 52 completed the study. A randomized cross over clinical trial was performed. Participants were assigned to RCR alone or with a supplement of lycopene-rich tomato juice for 60 days; subsequently, the groups were switched to the alternative regimen for the next 60 days. Reduction in BMI, HOMA-IR, cholesterol, triglycerides, liver size, and steatosis was more profound in tomato-supplemented group. Leptin decreased in both groups whereas adiponectin raised only after tomato supplementation. RCR is associated with the impaired engagement of T-cells glycolysis and proliferation, tomato-supplementation resulted in glycolytic metabolic activation of T-cells. Tomato juice ameliorates glucose and lipid metabolism in obese children, improve oxidative and inflammatory state and modulates the mitochondrial metabolism of T-cells contributing to a maintenance of a proper immune surveillance in children, impaired by RCR. The addition of tomato to RCR could be considered a protective and preventive support to obese child.

Ultrasound findings in paediatric cholestasis: how to image the patient and what to look for.

Paediatric biliary tract and gallbladder diseases include a variety of entities with a wide range of clinical presentations. Cholestasis represents an impaired secretion of bilirubin by hepatocytes, manifesting with high blood levels of conjugated bilirubin and jaundice. Various causes may be involved, which can be recognised analysing blood tests and hepatobiliary imaging, while sometimes liver biopsy or surgery may be necessary. High-resolution real-time ultrasonography is an important tool for differentiation of obstructive and non-obstructive causes of jaundice in infants and children. In this paper, we briefly review the normal anatomy and the ultrasound aspects of main pathologies affecting gallbladder and biliary tree in neonatal and paediatric age.

Paediatric liver ultrasound: a pictorial essay.

Ultrasound scan is a painless and radiation-free imaging modality and, therefore, it is widely considered the first-choice diagnostic tool in the setting of hepatopathies in paediatric patients. This article focuses on the normal ultrasound anatomy of the liver in neonatal and paediatric age and reviews the ultrasound appearance of the most common diffuse and focal liver affections.

Case report: horse or zebra, ascites or pseudo-ascites? Care for pictural details!

BACKGROUND: Pseudo-ascites is a very rare condition in children and remains a challenging diagnosis. Targeted imaging may be helpful, but a high index of clinical suspicion is often necessary to guide the investigations, as pseudo-ascites may efficiently mimic true ascites. To date, still many cases of pseudo-ascites suffer diagnostic and therapeutic delay, and some are only diagnosed during surgical exploration. We report the case of a patient with a late laparoscopic diagnosis of pseudo-ascites. We retrospectively review our patient's imaging findings and suggest new characteristic features which may help differentiate pseudo-ascites from true ascites. CASE PRESENTATION: A 7-month-old infant was referred for a progressive abdominal distention. Physical examination and initial ultra-sonographic findings evoked free ascites. An extensive diagnostic workup was then performed and was negative for hepatic, renal, cardiac, intestinal, pancreatic, inflammatory or infectious diseases, malignancy and congenital metabolic disorders. Pseudo-ascites was evoked and dedicated ultra-sonographic and magnetic resonance studies were repeated but could not confirm this diagnosis. Symptomatic diuretic treatment with spironolactone and furosemide was then started. A temporary and limited effect was noted but, with time, repeated paracenteses were necessary as the abdominal distention progressed causing discomfort and breathing difficulty. Last, because the patient's quality of life deteriorated, a peritoneal-venous shunting was proposed; as the operation started with a diagnostic laparoscopy, a benign giant cystic mesenteric lymphangioma was identified and totally excised. The resolution of symptoms was immediate and the patient remained symptom-free throughout the subsequent observation period that lasted more than 1 year. CONCLUSIONS: Increased awareness about pseudo-ascites is necessary, as the diagnosis is often overlooked, and treatment delayed. Targeted imaging may be helpful, as some specific, although not pathognomonic, features exist which may aid in the diagnosis.

Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance.

BACKGROUND: Hereditary fructose intolerance (HFI) is a rare genetic disorder of fructose metabolism due to aldolase B enzyme deficiency. Treatment consists of fructose, sorbitol, and sucrose (FSS)-free diet. We explore possible correlations between daily fructose traces intake and liver injury biomarkers on a long-term period, in a cohort of young patients affected by HFI. METHODS: Patients' clinical data and fructose daily intake were retrospectively collected. Correlations among fructose intake, serum alanine aminotransferase (ALT) level, carbohydrate-deficient transferrin (CDT) percentage, liver ultrasonography, genotype were analyzed. RESULTS: We included 48 patients whose mean follow-up was 10.3 ± 5.6 years and fructose intake 169 ± 145.4 mg/day. Eighteen patients had persistently high ALT level, nine had abnormal CDT profile, 45 had signs of liver steatosis. Fructose intake did not correlate with ALT level nor with steatosis severity, whereas it correlated with disialotransferrin percentage (R2 0.7, p < 0.0001) and tetrasialotransferrin/disialotransferrin ratio (R2 0.5, p = 0.0001). p.A150P homozygous patients had lower ALT values at diagnosis than p.A175D variant homozygotes cases (58 ± 55 IU/L vs. 143 ± 90 IU/L, p = 0.01). CONCLUSION: A group of HFI patients on FSS-free diet presented persistent mild hypertransaminasemia which did not correlate with fructose intake. Genotypes may influence serum liver enzyme levels. CDT profile represents a good marker to assess FSS intake.

Recent Advances in Nuclear Imaging of Receptor Expression to Guide Targeted Therapies in Breast Cancer.

Breast cancer remains the most frequent cancer in women with different patterns of disease progression and response to treatments. The identification of specific biomarkers for different breast cancer subtypes has allowed the development of novel targeting agents for imaging and therapy. To date, patient management depends on immunohistochemistry analysis of receptor status on bioptic samples. This approach is too invasive, and in some cases, not entirely representative of the disease. Nuclear imaging using receptor tracers may provide whole-body information and detect any changes of receptor expression during disease progression. Therefore, imaging is useful to guide clinicians to select the best treatments for each patient and to evaluate early response thus reducing unnecessary therapies. In this review, we focused on the development of novel tracers that are ongoing in preclinical and/or clinical studies as promising tools to lead treatment decisions for breast cancer management.

No association between variations in extracranial venous anatomy and clinical outcomes in multiple sclerosis patients over 5 years.

BACKGROUND: No longitudinal, long-term, follow-up studies have explored the association between presence and severity of variations in extracranial venous anatomy, and clinical outcomes in patients with multiple sclerosis (MS). OBJECTIVE: This prospective 5-year follow-up study assessed the relationship of variations in extracranial venous anatomy, indicative of chronic cerebrospinal venous insufficiency (CCSVI) on Doppler sonography, according to the International Society for Neurovascular Disease (ISNVD) proposed consensus criteria, with clinical outcomes and disease progression in MS patients. METHODS: 90 MS patients (52 relapsing-remitting, RRMS and 38 secondary-progressive, SPMS) and 38 age- and sex-matched HIs were prospectively followed for 5.5 years. Extracranial and transcranial Doppler-based venous hemodynamic assessment was conducted at baseline and follow-up to determine the extent of variations in extracranial venous anatomy. Change in Expanded Disability Status Scale (∆EDSS), development of disability progression (DP) and annualized relapse rate (ARR) were assessed. RESULTS: No significant differences were observed in MS patients, based on their presence of variations in extracranial venous anatomy at baseline or at the follow-up, in ∆EDSS, development of DP or ARR. While more MS patients had ISNVD CCSVI criteria fulfilled at baseline compared to HIs (58% vs. 37%, p = 0.03), no differences were found at the 5-year follow-up (61% vs. 56%, p = 0.486). DISCUSSION: This is the longest follow-up study assessing the longitudinal relationship between the presence of variations in extracranial venous anatomy and clinical outcomes in MS patients. CONCLUSION: The presence of variations in extracranial venous anatomy does not influence clinical outcomes over the 5-year follow-up in MS patients.

Clinical significance and sonographic evolution of enlarged abdominal lymph nodes in children.

AIM: Paediatric evidence about the clinical implications of enlarged abdominal lymph nodes (EALN) is not univocal. The main purpose of our study was to evaluate the clinical significance and the morphological evolution of enlarged abdominal nodes in children with recurrent abdominal pain. METHODS: All children with recurrent abdominal pain diagnosed with EALN were enrolled at the involved centres between September 2017 and June 2018. Number, size, localisation, shape and architecture of nodes were accurately recorded along with clinical and laboratory data at enrolment and after three and six months. RESULTS: A total of 38 children were enrolled. After the six-month study period, 58% of them had lymph nodes reduced in size, 13% had unchanged lymph nodes, and 29% had lymph nodes increased in size. Overall, we observed a gradual, albeit slight reduction in the average size of enlarged nodes over the six-month period. The extent of size changes was not correlated with any clinical parameter. CONCLUSION: Our data suggest that EALN are a non-specific finding, which is not worth a change in the diagnostic and therapeutic management of children with abdominal pain.

Ultrasonographic and multimodal imaging of pediatric genital female diseases.

Ultrasonography is the first-line imaging modality in the evaluation of the female pelvis in childhood and adolescence, because it is easy to perform, non-invasive and it does not require sedation. The transabdominal approach is preferred in children and adolescents, after filling the bladder to move away the bowel loops from the pelvis. The probe frequency must be adapted to age, thickness of tissues and depth of the structures under examination. High-frequency (4-12 MHz) linear or convex probes are used in newborns; high-frequency linear probes (4-12 MHz) in toddler, convex 5-7.5 MHz probes in girls and convex 3.5-5 MHz probes in teenagers. In this article, the main pathological conditions of the genital female tract in pediatric age are examined, such as congenital anomalies, disorders of sex development, ovarian cysts, ovarian tumors, adnexal torsion, primary amenorrhea, precocious puberty and pelvic inflammatory disease.

Paediatric neck ultrasonography: a pictorial essay.

The neck structures are located very superficially and are therefore easy to explore by ultrasound examination. Ultrasonography is crucial for the detection of neck pathologies in children. High-frequency probes (10-15 MHz) are used for the ultrasound examination on the patient lying in supine decubitus and with their neck stretched out. The outcome of the exam depends mainly on the child's cooperation-hence the need for warm sonographic gel and a comfortable cushion to place under the patient's shoulders. The complete scan of the neck includes the evaluation of the thyroid and salivary glands and the vascular structures as well as the lymph node analysis. In children and adolescents, the thymus is often visualised in the supraclavicular and jugular scans. It appears as a structure, usually hypoechoic, with thin hyperechoic straps, though echogenicity increases with age. In this pictorial essay, the main pathological conditions of the neck in paediatric age will be examined, such as thyroid dysgenesis, thyroiditis, thyroid nodules, lymphadenopathies, cystic lesions, haemangiomas and vascular malformation, cervical thymus, fibromatosis colli and pilomatrixoma.

Pediatric musculoskeletal ultrasound: a pictorial essay.

Ultrasound (US) is the main imaging modality for the evaluation of pediatric patients with musculoskeletal diseases; particularly, it is an appropriate and reliable tool for diagnosis, follow-up and treatment of several musculoskeletal pathologies affecting the pediatric age. High-frequency (10-15 MHz) and high-resolution probes provide very lofty quality images, allowing a detailed study of the pediatric musculoskeletal system. Among the well-known advantages of this technique-such as the absence of ionizing radiations, its low cost and wide availability-US can as well rely on some intrinsic characteristics of the pediatric musculoskeletal system that can improve its diagnostic capability. The unossified portions of the pediatric skeleton and the absence of a thickened adipose tissue allow US to be highly effective and reliable in the study of muscles, tendons and cartilage. Lower-frequency sectoral transducers can be required in the study of some joints such as the shoulder or the hip, as well as in the examination of deep soft-tissue lesions. Furthermore, both color and spectral Doppler play an important role in the examination of soft-tissue lesions and synovial phlogosis. In this pictorial essay the main pathological conditions of pediatric musculoskeletal system will be examined, such as painful hip, evolutionary hip dysplasia, osteochondrosis, trauma-related pathologies and juvenile idiopathic arthritis.

Pediatric ultrasonography of the pancreas: normal and abnormal findings.

The pancreas is easily investigated in children thanks to the relative lack of fat tissue and the large left hepatic lobe with an optimal acoustic window. The use of high frequency, even linear transducers, usually results in detailed images of all pancreatic areas. A wide spectrum of pancreatic pathologic conditions can be identified and monitored at ultrasound although they are relatively uncommon during childhood compared to the adult. In this paper we briefly review the anatomy, technique, and sonographic aspects of normal and pathological pediatric pancreas.

Correction to: Paediatric neck ultrasonography: a pictorial essay.

Unfortunately, the following figure captions and text were incorrectly published in the original publication.

A rare case of hydrometrocolpos from persistent urogenital sinus in patient affected by adrenogenital syndrome.

Persistent urogenital sinus (PUGS) is a congenital pathological condition characterized by an abnormal communication between the urethra and vagina, which has an estimated incidence of 0.6/10,000 female births. It could be the only known malformation or part of a syndrome. PUGS is commonly shown by a pelvic mass, related to a distended bladder, hydrometrocolpos which is due to an obstruction leading to the dilation of the vagina and uterus (i.e., imperforate hymen, transverse vaginal septum or atresia, and PUGS) or both. We present a case of female patient with classical congenital adrenal hyperplasia, diagnosed on the 7th day of life, with ambiguous genitalia, untreated surgically only with hormone therapy by parental decision. The patient, at the age of 5 years and 5 months, came to our observation for a pelvic ultrasound, which revealed retrovesical neoformation with anechoic content and regular walls. We performed the ultrasound examination that showed the dilation of the cervix and the vaginal canal with anechoic finely corpuscolated content in the declining portion, compatible with hydrometrocolpos from probable persistence of the urogenital sinus. The voiding cystourethrography (VCUG) confirmed the ultrasound diagnosis, with evidence of urogenital sinus. In conclusion, ultrasound is the first diagnostic tool, but need to be completed by other technical procedures, which VCUG or magnetic resonance imaging to observe the site of fusion of the urinary and genital tract.

Extra-osseous 99mTc methylene diphosphonate uptake detected enlargement of the knee joint in patient with polyarthritis.

Bone scintigraphy is a nuclear scanning test used to find abnormalities in the skeleton. Certain abnormal processes involving soft tissues can also cause skeletal accumulation of radiotracer during bone scintigraphy. We present a case of periarticular knee soft tissue 99mTc methylene diphosphonate uptake in a patient with asymmetric polyarthritis. A 33-year-old patient with asymmetric polyarthritis, skin lesions and joint pain underwent bone scintigraphy. Total body examination showed an extra-osseous uptake in periarticular soft tissue of knees joints. A detailed history checkup, physical examination and laboratory tests were carried out to understand the link between the extra-osseous uptake and the phosphonate binding in periarticular soft tissue. To improve the anatomical description of the soft tissue of the knees and to clarify the nature of the extra-skeletal 99mTc methylene diphosphonate uptake, magnetic resonance imaging scan was performed. 99mTc-labeled phosphonate binding has been reported in a number of extra-osseous conditions, but to our knowledge, there are a few cases showing bone tracer uptake in polyarthritis. In polyarthritic patients, whole-body bone scintigraphy were useful in examining the whole joints and detecting possible dubious extra-osseous uptake; in fact, it is able to select subjects who require further in-depth analysis, for example, magnetic resonance imaging.

Centralized and Local Color Doppler Ultrasound Reading Agreement for Diagnosis of the Chronic Cerebrospinal Venous Insufficiency in Patients with Multiple Sclerosis.

BACKGROUND: An impaired cerebrospinal venous drainage was postulated to be a cofactor in the multifactorial pathogenesis of multiple sclerosis (MS). Chronic cerebrospinal venous insufficiency (CCSVI) is characterized by abnormalities of the main extracranial cerebrospinal venous outflow routes, which can be detected by color Doppler Ultrasound (CDUS) using 5 venous hemodynamic (VH) criteria. Discrepant results between different investigators were reported in the past, therefore the usefulness and applicability of the CCSVI CDUS-based diagnosis in clinical research and practice has been questioned. The reproducibility of proposed criteria for CCSVI detection depends on the blinding, training level, skills of the operator and interpretation of VH criteria. OBJECTIVES: To assess agreement between centralized and local reading of CDUS examination for diagnosis of CCSVI in trained Doppler sonologists. METHODS: This study was performed in 78 MS patients and 28 age- and sex-matched healthy controls (HCs). Extracranial and transcranial CDUS venous hemodynamic assessment was conducted, according to International Society of Neurovascular Disease (ISNVD) recommended criteria, by a single CCSVI-trained expert sonologist blinded to the subject disease status. After the local Doppler sonologist performed the investigation, all images and video clips of the CDUS examination were sent to the centralized reading center, where a second blinded reading was performed by two CCSVI-trained expert sonologists. Statistical analyses were performed comparing accuracy of CCSVI diagnosis (≥2 VH criteria) and each of the 5 individual VH criteria using Cohen kappa statistic, along with positive/negative agreement and Odds ratio (OR) with 95% confidence intervals (95% CI). RESULTS: Diagnosis of CCSVI was obtained in 59.7% of local and 64.3% centralized readers (Kappa, 0.67, p<0.001). Similar Kappa values were obtained for CCSVI diagnosis and individual CCSVI criteria in both MS patients and HCs. The highest Kappa between local and centralized readers was observed for VH criteria 5 (0.93) followed by VH criteria 4 (0.70), VH criteria 1 (0.66), VH criteria 2 (0.64) and VH criteria 3 (0.58). The positive predictive value (PPV) and negative predictive value (NPV) for CCSVI diagnosis were 82.7% and 86,7%, respectively with an OR of 31.1 (95% CI 11.1-87.5, p<0.001). The highest agreement between local and centralized readers was observed for VH criteria 4 (OR 98.7, 95% CI 17.1-569.9, p<0.001) with 72.7% PPV and 97.3% NPV followed by VH criteria 5 (53, 95% CI 13.4-209.2, p<0.001) with 98.1% PPV and 100% NPV value. CONCLUSION: Centralized reading of the CDUS examination for the diagnosis of CCSVI is feasible with high accuracy in CCSVI-trained Doppler sonologists. The most reproducible VH criteria between local and centralized readers were VH criteria 4 and 5.

Clinical Value of Perfusion Abnormalities of Brain on Technetium-99m HMPAO Single-Photon Emission Computed Tomography in Children With Sydenham Chorea.

We evaluated whether perfusion brain abnormalities by single-photon emission computed tomography (SPECT) imaging improves diagnostic and prognostic assessment in Sydenham chorea. Twenty-three children with acute autoimmune chorea underwent technetium-99m hexamethylpropyleneamine oxime brain SPECT imaging. In 16 children, SPECT was repeated during the follow-up. A pattern of basal ganglia hyperperfusion was observed in 20 (87%) patients. In 4 of 10 patients with generalized chorea, perfusion was comparable in right and left striatum and right and left thalamus. In 13 patients with hemi-chorea and in 3 with generalized chorea, unilateral hyperperfusion was detected. Three patients with generalized chorea had normal perfusion. Tracer uptake of basal ganglia of the patients at the acute phase was higher than at the follow-up ( P < .001). SPECT seems a useful noninvasive tool in pediatric patients with Sydenham chorea to support the clinicians during the acute phase of disease and to monitor the course of autoimmune chorea.

Laparoscopic transposition of lower pole crossing vessels (vascular hitch) in children with pelviureteric junction obstruction.

BACKGROUND: Congenital hydronephrosis due to intrinsic or extrinsic uretero-pelvic-junction (UPJ) obstruction (UPJO) is a common problem in childhood UPJO may be caused by intrinsic disorganization or by extrinsic compression from crossing vessels (CV); extrinsic causes usually present symptomatically in older children. This report the large Italian experience in the treatment of children with extrinsic-UPJO by CV. METHODS: We analyzed the data of 51 children (17 girls and 34 boys, median age 10, 7 years) affected by extrinsic-UPJO were treated in three Italian institutions with laparoscopic transposition of CV (Hellström Vascular Hitch modified by Chapman).The intraoperative diuretic-test was performed in all patients before and after the vessels transpositions confirming the extrinsic-UPJO. We included in the study only patients with suspicion of vascular extrinsic obstruction of the UPJ. Symptoms at presentation were recurrent abdominal/flank pain and haematuria. All patients presented intermittent ultrasound (US) detection of hydronephrosis (range, 18-100 mm). Preoperative diagnostic studies included: US/doppler scan, MAG3-renogram, functional-magnetic-resonance-urography (fMRU). RESULTS: Median operative time was 108 minutes; median hospital stay: 3, 4 days. Unique complications: a small abdominal wall hematoma and higher junction-translocation without obstruction. During follow-up (range, 12-96 months) all patients reported resolution of their symptoms, a decrease in the hydronephrosis grade and improved drainage on diuretic renogram. CONCLUSIONS: We believe that Vascular Hitch is less technically demanding than laparoscopic pyeloplasty, resulting in a lower complication rate and a significantly reduced hospitalization. The results of our study allow us to conclude that laparoscopic VH may be a safe, feasible, and attractive alternative to treat obstructed hydronephrosis due to CV presenting a useful alternative to AHDP in the management of symptomatic children where CV are deemed the sole aetiology. We recommend careful patient selection based on preoperative clinical and radiologic findings that are diagnostic of extrinsic-UPJO, combined with intraoperative-DT to confirm the appropriate selection of corrective procedure.