Labeling male anorectal malformations: objective evaluation of radiologic imaging before surgery.

Purpose: Prone cross-table lateral x-ray (CTLxR) and colostogram aid surgical planning for anorectal malformations (ARMs) without perineal fistulas. We suggest objective imaging tools to classify ARMs. Methods: Three observers prospectively evaluated CTLxR and colostograms of male ARM patients (2012-2022) without perineal fistulas. The level of the rectal pouch was estimated with pubococcygeal (PC) and ischiatic (I) lines. On CTLxR, we described the "pigeon sign", defined as the rectal pouch ending with a beak-like image, suspicious for a rectourinary fistula. ARM was defined as rectobulbar when the rectal pouch was below the I line, rectoprostatic when between PC and I lines, and rectovesical when above the PC line. Concordance was assessed with Fleiss' kappa. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of the "pigeon sign" were calculated. Results: Thirteen patients were included in this study. The interobserver agreement on CTLxR was 69.2% (k = 0.54) on pouch ending, 84.6% (k = 0.69) on the "pigeon sign", and 76.9% (k = 0.69) on diagnosis; concordance between observers and intraoperative diagnosis was 66.6% (k = 0.56). The "pigeon sign" had 75% sensitivity, 100% specificity, 100% PPV, and 50% NPV. The interobserver agreement on colostograms was 84.6% (k = 0.77) on pouch ending and 89.7% (k = 0.86) on diagnosis; concordance between observers and intraoperative diagnosis was 92.3% (k = 0.90). Conclusion: PC and I lines and the "pigeon sign" are useful tools in examining CTLxR and colostograms. Adequate CTLxR interpretation may modify surgical strategy.

Voiding cystourethrography and 99MTC-MAG3 renal scintigraphy in pediatric vesicoureteral reflux: what is the role of indirect cystography?

BACKGROUND: Primary vesicoureteral reflux (VUR) is the most common urological anomaly in children. Voiding cystourethrography (VCUG) is considered the reference standard for the diagnosis of VUR. Even if it is a secure and standardized technique, it is still an invasive method, hence, the effort to find an alternative method to diagnose VUR. The aim of the study is to evaluate the diagnostic accuracy of 99mTC-MAG3 scintigraphy with indirect cystography in detecting VUR and to estimate any interobserver variability in 99mTC-MAG3 scintigraphy interpretation. METHODS: The authors retrospectively reviewed all the pediatric patients who underwent both a VCUG and a 99mTC-MAG3 renal scintigraphy at the study institution between 2012 and 2016. RESULTS: A total of 86 children (and 168 renal units) were included. MAG3 scan revealed a sensitivity of 54% and a specificity of 90% with positive predictive value of 79% and negative predictive value of 73%. Each MAG3 scintigraphy was then independently and blindly evaluated by a pediatric urologist and two nuclear physicians. After revision, the concordance between VCUG and MAG3 in reflux cases dropped from 54% to 27% (on average), and the reviewers reclassified most examinations as non-conclusive. CONCLUSIONS: 99mTC-MAG3 renal scintigraphy with indirect cystography showed low sensitivity in detecting VUR of any grade and cannot, therefore, be proposed as completely alternative to VCUG in the diagnosis of VUR. Moreover, MAG3 scintigraphy interpretation for the diagnosis of VUR has a very high interobserver variability, mostly because of the lack of a correct and complete voiding phase.

Thyroid anomalies in Williams syndrome: investigation of 95 patients.

Thyroid involvement in Williams syndrome (WS) was recently reported in two small groups of patients, both showing an increased prevalence of elevation of TSH serum concentration; in one of the two reports, 70% of the patients demonstrated a hypoplasia of thyroid gland as well. In our institution, we currently follow a large population of WS patients who periodically undergo a multispecialist clinical evaluation that includes ultrasound evaluation of the thyroid gland, and levels of FT3, FT4, TSH, and anti-thyroid antibodies. Here, we report on the prevalence of thyroid structural and functional anomalies, in a population of 95 WS patients, half of them followed for more than 5 years. Our study confirms the increased incidence of both elevated TSH serum values (37.9% in our sample) and thyroid gland hypoplasia (74.7%). Moreover, we demonstrated that TSH elevation declines with age. For this reason, we suggest that a complete thyroid evaluation be performed in every patient with WS, and that this medical complication should be periodically searched for in follow-up visits.

[AIDS in childhood]. / L'AIDS nell'età pediatrica.

HIV infection in infants is transmitted through the placenta. Antibodies reduce and annul in nearly 18 months: HIV + subjects older than 18 months are considered as infected and divided into two classes--i.e., P1: infected and P2: AIDS. The most interesting clinical and diagnostic imaging findings are reported relative to 209 babies who were born HIV + and followed-up with clinical and laboratory tests plus chest films, brain and abdomen US to assess the presence of changes and their evolution features. The following conclusions have been drawn: 1) in their early life, HIV + subjects are especially liable to the action of bacteria, viruses and protozoa: their respiratory system is easily affected with acute, recurring and/or chronic inflammations which are frequently associated with heart enlargement from dilatative cardiomyopathy. Bacterial inflammations are characterized by single or multiple opacities, with blurred and irregular patterns, which are frequently confluent in areas of inhomogeneous opacity. The diagnosis of virus and protozoa infections is more difficult because of their radiologic patterns--i.e., linear fan-like opacities, small shadow areas, enlarged hila. In some cases radiology demonstrates only or mostly lung hyperexpansion, with no opaque images, which however does not exclude the presence of severe and diffuse bronchioloalveolar and interstitial compromission with high-grade pulmonary insufficiency. The common association of cytomegalovirus and Pneumocystis carinii infections with slow-evolution changes and frequent recurrences appears on radiologic images as diffuse and blurred shadows and irregular cotton-like opacities. 2) Brain and abdomen US scans in the newborn show no particular changes, while in the following months both US and CT demonstrate hydrocephalic, atrophic and hemorrhagic changes. 3) In both early and late infancy, lung infections are mostly caused by pneumocystis and cytomegalovirus. Chronic interstitial lymphocyte pneumonia is a peculiar finding with punctiform images in the bases of lung and spreading craniocaudally with similar features to miliary tuberculosis. Different than in the adult, in our series of 209 infants no tubercular abnormalities were observed: in one patient only an active primary complex was demonstrated with broncholavage. Candida infections were observed in 3 patients in their late infancy. Hepatopancreatic and lymph node changes suggesting probably evolving inflammation were uncommon in our series; this condition must be followed-up and checked over time.