Patent foramen ovale closure with NobleStitch EL system in a case of Ebstein's anomaly after a failed device closure attempt.

In the setting of an Ebstein's anomaly, a right-to-left shunt via a patent foramen ovale (PFO) may be the cause of a significant cyanosis. In these patients, the PFO closure is able to improve the arterial saturation. Furthermore, a partial closure is often recommended to obtain a reduction in the PFO right-left shunt without a significant impact on the right chamber hemodynamics. However, in some cases, a complex PFO anatomy may prevent an effective device closure. We describe the case of a patient with Ebstein's anomaly and a significant cyanosis due to a right-to-left shunt via the PFO wherein an effective partial PFO closure with a suture-mediated NobleStitch EL system was achieved in a setting of a complex PFO anatomy (large aneurismatic septum, long stiff tunnel, and hypertrophic septum secundum) after a failed device-closure attempt.

"Curtain-fall" technique for cerebrospinal fluid leak prevention after removal of intradural drainage. Technical note: application in chronic subdural hematoma surgery.

OBJECTIVE: Chronic subdural hematoma (CSDH) is frequently met in neurosurgical practice and often need urgent surgical treatment in case of neurological deterioration. Different surgical approaches to evacuate CSDH are described in the literature. In our experience, an external drainage system is crucial in order to avoid recurrences. We recently encountered a case of subcutaneous CSF collection after drainage removal. Thus, we developed a simple surgical technique to prevent postoperative CSF leak after subdural drainage system removal. METHOD: We have developed a technique in which the periosteum is harvested during the surgery prior to the evacuation of the hemorrhage and fixed with sutures on the uncut dura mater opposite and laterally to the exit of the catheter exiting the dural hole caused by the passage of the Jackson-Pratt subdural drainage system. When the drainage catheter is removed, the flap, partially held by the sutures, falls over the hole avoiding CSF leakage. By using this technique, the small dural hole will be covered with the periosteum allowing for natural closure and wound healing hence preventing CSF leakage. RESULTS: This technique was successfully employed in 21 patients who didn't develop postoperative CSF leakage following CSDH evacuation and removal of subdural drainage system. CONCLUSION: In this technical note, we describe a safe dura closure technique that we developed to help reduce the risk of postoperative CSF leakage following subdural drainage removal, which can, however, also be applied in all surgeries in which a catheter is placed in the subdural space.

INFLA-score: a new diagnostic paradigm to identify pericarditis.

BACKGROUND: Diagnosis of pericarditis may be challenging, since not all patients meet conventional criteria. An overlooked diagnosis implies longer course of symptoms and increased risk of recurrences. C-reactive protein(CRP), widely used as inflammation marker, has some limitations. This study aimed to assess usefulness and prognostic value of INFLA-score, a validated index assessing low-grade inflammation, in the definite diagnosis of pericarditis. METHODS: Patients with suspected pericarditis were included. INFLA-score was computed based on white blood cells and platelet count, neutrophil-to-lymphocyte ratio, CRP, ranging from -16 to+16. INFLA-score>0 was considered positive for the presence of pericardial inflammation. The primary end-point was the association of INFLA-score with diagnosis of pericarditis according to conventional criteria. Recurrence of pericarditis at 6 months was secondary end-point. RESULTS: 202 patients were included, aged 47±17,57% females. Among 72(36%) patients with diagnosis of pericarditis, INFLA-score>0 was observed in 86%(vs.36%,p<0.001), abnormal CRP in 42%(vs.10%,p<0.001), pericardial effusion in 44%(vs.19%,p<0.001), abnormal ECG in 56%(vs.24%,p<0.001), rubs in 5%(vs.0.1%,p=0.072). INFLA-score>0 had strongest predictive value for the diagnosis of pericarditis (HR 8.48, 95%CI 3.39-21.21), with 86%sensitivity and 64%specificity, opposed to CRP (HR 1.72, non-significant 95%CI 3.39-21.20). Recurrent pericarditis at 6-month was more frequent in patients with positive INFLA-score (37% vs.8%,p<0.001, RR 4.15,95%CI 2.81-6.12). Among patients with normal CRP, INFLA-score confirmed ongoing inflammation in 78%cases. Compared with conventional criteria, INFLA-score had highest accuracy(AUC=0.82). Different cut-offs were valuable to rule-out(INFLA-score>0,sensitivity86%,negativeLR=0.22) or rule-in(INFLA-score≥10,specificity97%, positiveLR=13) diagnosis. CONCLUSIONS: INFLA-score is a useful diagnostic tool to assess the probability of pericarditis, with a strong prognostic value for further recurrences, outperforming CRP.

Gastrointestinal involvement in STEC-associated hemolytic uremic syndrome: 10 years in a pediatric center.

BACKGROUND: The gastrointestinal (GI) tract represents one of the main targets of typical hemolytic uremic syndrome (HUS) in children. In this observational study, we tried to establish (1) the main features of GI complications during STEC-HUS and (2) the relationship between Escherichia coli serotypes and Shiga toxin (Stx) variants with hepatopancreatic involvement. METHODS: A total of 79 STEC-HUS patients were admitted to our pediatric nephrology department between January 2012 and June 2021. Evidence of intestinal, hepatobiliary, and pancreatic involvements was reported for each patient, alongside demographic, clinical, and laboratory features. Frequency of gastrointestinal complications across groups of patients infected by specific E. coli serotypes and Stx gene variants was evaluated. RESULTS: Six patients developed a bowel complication: two developed rectal prolapse, and four developed bowel perforation which resulted in death for three of them and in bowel stenosis in one patient. Acute pancreatitis was diagnosed in 13 patients. An isolated increase in pancreatic enzymes and/or liver transaminases was observed in 41 and 15 patients, respectively. Biliary sludge was detected in three, cholelithiasis in one. Forty-seven patients developed direct hyperbilirubinemia. Neither E. coli serotypes nor Shiga toxin variants correlated with hepatic or pancreatic involvement. CONCLUSIONS: During STEC-HUS, GI complications are common, ranging from self-limited elevation of laboratory markers to bowel perforation, a severe complication with a relevant impact on morbidity and mortality. Hepatopancreatic involvement is frequent, but usually short-lasting and self-limiting.

Retrosigmoid Intradural Suprameatal Approach: 2-Dimensional Operative Video.

INDICATIONS CORRIDOR AND LIMITS OF EXPOSURE: The retrosigmoid intradural suprameatal approach is mostly indicated for tumors in the cerebellopontine angle extending toward the Meckel cave and supratentorial regions, most frequently meningiomas and schwannomas. This approach was first established by the senior author in 1982. ANATOMIC ESSENTIALS NEED FOR PREOPERATIVE PLANNING AND ASSESSMENT: Nervous structures: cranial nerves III to XII, cerebellum, and brainstem. Vascular structures: anterior inferior cerebellar artery, posterior inferior cerebellar artery, superior cerebellar artery, basilar artery, vertebral artery, transverse, sigmoid, and petrous sinus, petrosal vein/veins, basilar plexus, and the mastoid emissary vein. Bony structures: petrous bone with internal auditory canal, jugular foramen and suprameatal tubercle, petrous apex, dorsum sellae, and posterior clinoid process. Structures within the petrous bone: vestibule, semicircular canals, and jugular bulb. ESSENTIALS STEPS OF THE PROCEDURE: After a suboccipital retrosigmoid craniectomy in the semisitting position and debulking of the tumor mass in the cerebellopontine angle, extension is achieved by drilling suprameatal tubercle above cranial nerve VII and VIII toward the petrous apex. The extent of bone drilling is tailored for each patient. PITFALLS/AVOIDANCE OF COMPLICATIONS: Avoid damage to cranial nerves, arteries, and veins during drilling, dissection, and tumor removal or by retraction. VARIANTS AND INDICATIONS FOR THEIR USE: In case of extreme supratentorial extensions laterally and dorsally, the opening of the tentorium may be helpful. For inferior extensions toward the upper spinal canal, opening of the foramen magnum and hemilaminectomy of C1 may be necessary.The patient consented to the procedure and to the publication of his/her image. Institutional logo in title slide, © 2023, INI Hannover. Used with permission.

Assessing the feasibility of using the antecubital vein to perform right heart catheterization in children and adults with congenital heart disease: a retrospective, observational single-center study.

BACKGROUND: Right heart catheterization (RHC) usually is performed via the femoral vein or the internal jugular vein. However, the antecubital fossa vein is a valid venous access, and it has become increasingly popular to perform right heart catheterization utilizing this access. METHODS: A retrospective, observational study was conducted to describe use of the antecubital fossa vein for right heart catheterization in adults and children with congenital heart disease (CHD). Patients who had undergone RHC via antecubital fossa vein at the authors' hospital between September 2019 and December 2022 were included. The outcomes studied were procedural failure and procedure-related adverse events. RESULTS: Fifty-two patients with CHD underwent right cardiac catheterization via an upper arm vein. The upper arm vein was unable to perform the RHC in only 2 patients (3.8%). Only 1 patient developed a minor adverse event. No irreversible and/or life-threating adverse events were detected. CONCLUSIONS: The upper arm veins are safe and effective to perform a RHC in children and adults with CHD. This approach demonstrates a high percentage of technical success, and few mild complications.

Intracardiac total anomalous pulmonary venous return or septum primum malposition? Complete repair in left atrial isomerism.

Total anomalous pulmonary venous return due to septum primum malposition is a poorly understood condition despite being very common in left atrial isomerism or polysplenia syndrome. Due to the leftward displacement of the septum primum, either the two right pulmonary veins or all four pulmonary veins can drain abnormally into the right atrium, despite their correct position. In other words, the four pulmonary veins (or the two right pulmonary veins), looking from outside the heart, return at the back of the atrium in the normal position. Nevertheless, from the inside of the heart, two or all four pulmonary veins drain into the right atrium due to the leftward displacement of the septum primum. As an example, we report a 5-month-old patient with severe malposition of the septum primum and consequent total anomalous pulmonary venous drainage into the right atrium. The patient underwent surgical correction with resection of the malpositioned septum primum and reconstruction of a normal interatrial septation with a pericardial patch.

Incidence and Prevalence of Multisystem Inflammatory Syndrome in Children (MIS-C) in Southern Italy.

Multisystem inflammatory syndrome in children (MIS-C) is a pediatric hyperinflammatory syndrome related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection whose epidemiology is not very well known at present. The objective of the study was to better understand the incidence of MIS-C in the Apulia region in southern Italy. Our primary goal was to estimate the incidence of newly identified cases of MIS-C in children aged 0-18 years, during a period of six months, encompassing the second pandemic wave. We also analyzed the characteristics of our cohort in terms of clinical features, treatment, and outcomes. The cumulative incidence of MIS-C was 3.27 per 100,000 residents between 0 and 18 years of age. In our cohort, gastrointestinal, mucocutaneous, and cardiac involvement were the most common clinical features. With our step-up approach to therapy, no patients required intensive care unit (ICU) admission and no cardiac sequelae after 6 months of onset were found in echocardiograms. Conclusion: Our epidemiological study of MIS-C in southern Italy showed unexpectedly overlapping figures with other US studies.

Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.

Pediatric steroid-sensitive nephrotic syndrome (pSSNS) is the most common childhood glomerular disease. Previous genome-wide association studies (GWAS) identified a risk locus in the HLA Class II region and three additional independent risk loci. But the genetic architecture of pSSNS, and its genetically driven pathobiology, is largely unknown. Here, we conduct a multi-population GWAS meta-analysis in 38,463 participants (2440 cases). We then conduct conditional analyses and population specific GWAS. We discover twelve significant associations-eight from the multi-population meta-analysis (four novel), two from the multi-population conditional analysis (one novel), and two additional novel loci from the European meta-analysis. Fine-mapping implicates specific amino acid haplotypes in HLA-DQA1 and HLA-DQB1 driving the HLA Class II risk locus. Non-HLA loci colocalize with eQTLs of monocytes and numerous T-cell subsets in independent datasets. Colocalization with kidney eQTLs is lacking but overlap with kidney cell open chromatin suggests an uncharacterized disease mechanism in kidney cells. A polygenic risk score (PRS) associates with earlier disease onset. Altogether, these discoveries expand our knowledge of pSSNS genetic architecture across populations and provide cell-specific insights into its molecular drivers. Evaluating these associations in additional cohorts will refine our understanding of population specificity, heterogeneity, and clinical and molecular associations.

Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis.

SIGNIFICANCE STATEMENT: Congenital obstructive uropathy (COU) is a prevalent human developmental defect with highly heterogeneous clinical presentations and outcomes. Genetics may refine diagnosis, prognosis, and treatment, but the genomic architecture of COU is largely unknown. Comprehensive genomic screening study of 733 cases with three distinct COU subphenotypes revealed disease etiology in 10.0% of them. We detected no significant differences in the overall diagnostic yield among COU subphenotypes, with characteristic variable expressivity of several mutant genes. Our findings therefore may legitimize a genetic first diagnostic approach for COU, especially when burdening clinical and imaging characterization is not complete or available. BACKGROUND: Congenital obstructive uropathy (COU) is a common cause of developmental defects of the urinary tract, with heterogeneous clinical presentation and outcome. Genetic analysis has the potential to elucidate the underlying diagnosis and help risk stratification. METHODS: We performed a comprehensive genomic screen of 733 independent COU cases, which consisted of individuals with ureteropelvic junction obstruction ( n =321), ureterovesical junction obstruction/congenital megaureter ( n =178), and COU not otherwise specified (COU-NOS; n =234). RESULTS: We identified pathogenic single nucleotide variants (SNVs) in 53 (7.2%) cases and genomic disorders (GDs) in 23 (3.1%) cases. We detected no significant differences in the overall diagnostic yield between COU sub-phenotypes, and pathogenic SNVs in several genes were associated to any of the three categories. Hence, although COU may appear phenotypically heterogeneous, COU phenotypes are likely to share common molecular bases. On the other hand, mutations in TNXB were more often identified in COU-NOS cases, demonstrating the diagnostic challenge in discriminating COU from hydronephrosis secondary to vesicoureteral reflux, particularly when diagnostic imaging is incomplete. Pathogenic SNVs in only six genes were found in more than one individual, supporting high genetic heterogeneity. Finally, convergence between data on SNVs and GDs suggest MYH11 as a dosage-sensitive gene possibly correlating with severity of COU. CONCLUSIONS: We established a genomic diagnosis in 10.0% of COU individuals. The findings underscore the urgent need to identify novel genetic susceptibility factors to COU to better define the natural history of the remaining 90% of cases without a molecular diagnosis.

Emotional Distress, Self-Management Skills, and Expectations Among Adolescents and Young Adult Childhood Cancer Survivors in Transition from Pediatric to Adult Care: A Brief Report.

The transition from pediatric to adult care poses several emotional and personal challenges to adolescents and young adult (AYA) childhood cancer survivors (CCSs), which need attention to avoid the risk of nonadherence and medical dropout. This brief report describes the condition of AYA-CCSs at the moment of transition in terms of emotional state, personal autonomy, and expectations regarding future care. The results provide insights for clinicians dealing with survivorship care, to enhance AYA-CCSs emotional resilience and to support them in being in charge of their health, thus facilitating their transition to adulthood.

The risks associated with percutaneous native kidney biopsies: a prospective study.

BACKGROUND: The known risks and benefits of native kidney biopsies are mainly based on the findings of retrospective studies. The aim of this multicentre prospective study was to evaluate the safety of percutaneous renal biopsies and quantify biopsy-related complication rates in Italy. METHODS: The study examined the results of native kidney biopsies performed in 54 Italian nephrology centres between 2012 and 2020. The primary outcome was the rate of major complications 1 day after the procedure, or for longer if it was necessary to evaluate the evolution of a complication. Centre and patient risk predictors were analysed using multivariate logistic regression. RESULTS: Analysis of 5304 biopsies of patients with a median age of 53.2 years revealed 400 major complication events in 273 patients (5.1%): the most frequent was a ≥2 g/dL decrease in haemoglobin levels (2.2%), followed by macrohaematuria (1.2%), blood transfusion (1.1%), gross haematoma (0.9%), artero-venous fistula (0.7%), invasive intervention (0.5%), pain (0.5%), symptomatic hypotension (0.3%), a rapid increase in serum creatinine levels (0.1%) and death (0.02%). The risk factors for major complications were higher plasma creatinine levels [odds ratio (OR) 1.12 for each mg/dL increase, 95% confidence interval (95% CI) 1.08-1.17], liver disease (OR 2.27, 95% CI 1.21-4.25) and a higher number of needle passes (OR for each pass 1.22, 95% CI 1.07-1.39), whereas higher proteinuria levels (OR for each g/day increase 0.95, 95% CI 0.92-0.99) were protective. CONCLUSIONS: This is the first multicentre prospective study showing that percutaneous native kidney biopsies are associated with a 5% risk of a major post-biopsy complication. Predictors of increased risk include higher plasma creatinine levels, liver disease and a higher number of needle passes.

Craniotomy tools: description of a test model for the evaluation of craniotome blade efficiency.

Craniotomes have shown to be fast and precise in performing bone flaps. Nevertheless, in everyday practice, the neurosurgeon can experience breakage of the blade and other complications like dural tears during cutting of the bone. We developed a test procedure for craniotomies and used it to compare two blade types. We used bovine scapulae to perform three tests. Five testers carried out every trial. Test 1: a 4-cm straight line was performed with both blades. Test 2: each tester performed a spiral cut. Test 3: a zig-zag cut with angles of 90° was performed by all testers with both blade types. The mean time needed to achieve the 4-cm cut in test 1 was 29.50 and 17.88 s, respectively, for the previous and new blade. In test 2, the calculated mean speed (cm/s) was 0.138 using the previous blade model and 0.178 using the new one. In test 3, the mean number of 90° angles per second performed with both blades is comparable with values of 0.058 and 0.063, respectively, for the previous and new blade. The variable considered: speed of cutting and resistance to breakage shows that the novel blade is faster in performing all the three types of cut and has higher compliance with stress.

Relapse rate in children with nephrotic syndrome during the SARS-CoV-2 pandemic.

BACKGROUND: Viral upper respiratory tract infections trigger nephrotic syndrome relapses. Few data exist on the impact of the SARS-CoV-2 pandemic on the risk of relapse in children with idiopathic nephrotic syndrome (INS). METHODS: In a Belgian and Italian cohort of children with INS, we performed a retrospective analysis on the number and duration of relapses observed in 3 different periods in 2020: first COVID period, February 15-May 31; second COVID period, June 1-September 14; third COVID period, September 15-December 31. Relapse rates were compared to those of the previous 5 years (PRECOVID period). For the years 2019 and 2020, all causes and INS relapse-related hospitalizations were recorded. Hospitalizations and deaths due to SARS-CoV-2 infection were also recorded. In the Belgian cohort, SARS-CoV-2 serologies were performed. RESULTS: A total of 218 patients were enrolled, and 29 (13.3%) were diagnosed with new-onset INS during the COVID period. Relapse rates per 1000 person-days were as follows: 3.2 in the PRECOVID period, 2.7 in the first COVID period, 3.3 in the second COVID period, and 3.0 in the third COVID period. The incidence rate ratio for the total COVID period was 0.9 (95%CI 0.76 to 1.06; P = 0.21) as compared to the PRECOVID period. During 2020, both the proportion of patients hospitalized for recurrence (14.2% vs. 7.6% in 2019; P = 0.03) and the rate of hospitalization for recurrence (IRR 1.97 (95%CI 1.35 to 2.88); P = 0.013) were higher compared to 2019. In December 2020, anti-SARS-CoV-2 antibodies were detected in 31% of the Belgian cohort. Patients with positive and negative SARS-CoV-2 serology did not differ significantly in relapse rate (2.4 versus 4.2 per 1000 person-days). The number of new INS cases remained similar between 2020, 2019, and 2018. CONCLUSION: The first year of the SARS-CoV-2 pandemic did not significantly affect the relapse rate in children with INS. No serious infections were reported in this population of immunosuppressed patients. A higher resolution version of the Graphical abstract is available as Supplementary information.

Advances in Percutaneous Patent Foramen Ovale Closure: From the Procedure to the Echocardiographic Guidance.

Percutaneous patent foramen ovale (PFO) closure by traditional, double disc occluder devices was shown to be safe for patients with PFO, and more effective than prolonged medical therapy in preventing recurrent thromboembolic events. The novel suture-mediated "deviceless" PFO closure system overcomes most of the risks and limitations associated with the traditional PFO occluders, appearing to be feasible in most interatrial septum anatomies, even if data about its long-term effectiveness and safety are still lacking. The aim of the present review was to provide to the reader the state of the art about the traditional and newer techniques of PFO closure, focusing both on the procedural aspects and on the pivotal role of transesophageal echocardiography (TEE) in patient's selection, peri-procedural guidance, and post-interventional follow-up.

Impact of pregnancy on natural history of systemic right ventricle in women with transposition of the great arteries.

In the recent years, the pregnancy trend among women with Congenital Heart Disease (CHD) has increased; this has leaded to a growing demand for specialized care both in mother and in children. Although pregnancy is often well tolerated, maternal CHD may affect in some cases a maladaptive hemodynamic response carrying additional risks of cardiovascular events like arrhythmias, heart failure and, in rare cases, death. The impaired utero-placental perfusion due to maternal cardiac status may result in placental dysfunction, which may be associated with fetal growth restriction, preeclampsia, premature birth and perinatal morbidity. Systemic Right Ventricle (SRV) is one of the main conditions under which pregnancy is challenging. The sub-aortic position of morphological Right Ventricle (RV) is "physiologically" predisposed to fail at the adult age and may be potentially inadequate to support the hemodynamic stress of the pregnancy. Current literature about pregnancy in women with SRV consists of small retrospective series not providing conclusive evidence about the feasibility of a successful pregnancy outcomes. In addition, the long-term effects of pregnancy on SVR are not still adequately investigated and it remains unclear if maternal complications reported are due to pregnancy or to natural history of SVR. The aim of this paper is to offer a critical review of the knowledges at regard and to provide a practice update on the risk assessment and the pregnancy management in women with SRV in order to support the decision making and to optimize outcomes in these patients.

The Ukrainian children emergency: How the Pediatric Oncology Unit of Turin supports cancer patients and their families who have escaped war.

Due to the war in Ukraine, many children have been killed and those who suffer from severe diseases, such as oncological pathologies, are facing serious challenges as their treatment is interrupted. The objective of this report is to describe one of the first Italian humanitarian expeditions launched to rescue children and their families to provide them with the best possible cancer care. The Pediatric Oncology Unit of Turin has welcomed 60 Ukrainians who are patients, caregivers and siblings. This report underlines the activities that have been implemented to offer this new type of patient the best possible care.