Case Report: An unusual case of wide ileoileal intussusception associated with intestinal volvulus in a 8-months-old infant

IntroductionMidgut volvulus and intussusception are prevalent paediatric abdominal emergencies. To the best of our knowledge, this is the first reported case of a connection between intestinal volvulus and a massive intussusception.Case reportAn 8-month-old male infant was brought to the emergency room with a history of abdominal pain and vomiting for <24 h. On physical examination, the child appeared restless and was found to have a circumferential hard mass of approximately 4 cm in diameter in the epigastric region. Upon admission, laboratory results showed a C-reactive protein level of 0.4 mg/dl, LDH level of 351 U/L, mild leukocytosis with a white blood cell count of 12 × 103 /µl, and 67% neutrophils. A physical exam was significant for abdominal distention, hyperresonance in percussion, and a palpable, painful epigastric mass. The findings of the operation included a dilated and ischemic intestinal loop, approximately 25 cm from the ileocecal valve, twisted upon itself for three turns. After de-rotation, an extensive occluding ileo-ileal invagination with an ischemic intestinal loop was identified, and a length of approximately 55–60 cm of the distal ileum, including the ischemic segment, was resected.DiscussionThis is the first reported case of a connection between intestinal volvulus and a massive intussusception. Currently, only two reported cases describe the connection between volvulus and intussusception, which are insufficient to establish a direct link between the two clinical conditions

Aggressive approach for spontaneous pneumothorax treatment in children with Marfan syndrome?

Background and objectivesMarfan syndrome (MS) is a systemic disease of connective tissues consisting of a variable combination of anomalies. These patients have an increased risk of spontaneous pneumothorax (SP). However, there is a scarcity of pediatric literature on management, and no specific guidelines exist. Our aim was to analyze the management of spontaneous pneumothorax in children and adolescents with Marfan syndrome, comparing syndromic and non-syndromic patients.MethodsRetrospective analysis of pediatric patients (18 years) with SP diagnosed at our tertiary pediatric hospital (January 10–June 22), with special emphasis on diagnosis, treatment, and follow-up (FU).ResultsSixty-six patients with SP were identified, with nine (13%) having MS. In terms of baseline, there were no significant differences between the groups (age, sex, asthma, symptoms, and side, first-line treatment and hospitalization length). Overall, Marfan patients had significantly more first-line treatment failures requiring additional surgery, as well as more contralateral occurrences and the need for surgery/chest drain during the follow-up. Instead, conservative management resulted in significantly more ipsilateral recurrences and the need for surgery/chest drain in Marfan patients than controls during the follow-up.ConclusionsTreatment failure, contralateral occurrence, ipsilateral recurrence, and the need for surgery/chest drain during follow-up make management of patients with Marfan syndrome and spontaneous pneumothorax more difficult. In patients with a diagnosed MS a more aggressive first-line management should be considered, bearing in mind the higher risks of this population

Case report: A simple and reliable approach for progressive internal distraction of the sternum for Jeune syndrome (asphyxiating thoracic dystrophy): preliminary experience and literature review of surgical techniques

BackgroundDescribed for the first time in 1954, Jeune syndrome (JS), often called asphyxiating thoracic dystrophy, is a congenital musculoskeletal disease characterized by short ribs, a narrow thorax, and small limbs. In this study, we analyzed and presented our preliminary experience with a device for progressive internal distraction of the sternum (PIDS) in patients with symptomatic JS. In addition, we reviewed the contemporary English literature on existing surgical techniques for treating children with congenital JS.Material and methodsA retrospective analysis of pediatric patients (<18 years old) treated for symptomatic JS at our tertiary center between 2017 and 2023 was performed.ResultsWe presented two patients with JS who underwent surgery using an internal sternal distractor, a Zurich II Micro Zurich Modular Distractor, placed at the corpus of the sternum among the divided halves.ConclusionsWe obtained promising results regarding the safety and effectiveness of this less-invasive device for PIDS in patients with symptomatic JS. Further studies on long-term outcomes are needed to validate these findings

Prevalence and incidence of psychotic disorders in 22q11.2 deletion syndrome: a meta-analysis

22q11.2 deletion syndrome (22q.11.2DS) might be one of the strongest genetic risk factors for psychosis, but robust estimates of prevalence and incidence of psychotic disorders in this condition are not available. To address this gap, we performed a multistep systematic PRISMA/MOOSE-compliant literature search of articles reporting prevalence (primary outcome) or incidence (secondary outcome) of psychotic disorders in 22q11.2DS samples (protocol: https://osf.io/w6hpg) using random-effects meta-analysis, subgroup analyses and meta-regressions. The pooled prevalence of psychotic disorders was 11.50% (95%CI:9.40–14.00%), largely schizophrenia (9.70%, 95%CI:6.50–14.20). Prevalence was significantly higher in samples with a mean age over 18 years, with both psychiatric and non-psychiatric comorbidities and recruited from healthcare services (compared to the community). Mean age was also significantly positively associated with prevalence in meta-regressions (p < 0.01). The pooled incidence of psychotic disorders was 10.60% (95%CI:6.60%-16.70%) at a mean follow-up time of 59.27 ± 40.55 months; meta-regressions were not significant. To our knowledge, this is the first comprehensive systematic review and meta-analysis of the prevalence and incidence of psychotic disorders in 22q11.2DS individuals. It demonstrates that around one in ten individuals with 22q11.2DS displays comorbid psychotic disorders, and around one in ten will develop psychosis in the following five years, indicating that preventive approaches should be implemented systematically in 22q11.2DS.</p

Vascular Access in Pediatric Oncology and Hematology: State of the Art

Management and successful use of vascular access are critical issues in pediatric patients affected by malignancies. Prolonged course of disease, complex and various treatment protocols require long-lasting vascular access providing adequate tools to administrate those therapies and to collect routine blood sampling without painful and repeated venipuncture. For these reasons, central venous catheters are currently an important component in pediatric onco-hematological care, with a direct influence on outcome. Indeed, there are peculiar issues (techniques of insertion, management, complications etc.) which must be well-known in order to improve the outcome and the quality of life of children with cancer

Social cognition and real-life functioning in patient samples with 22q11.2 deletion syndrome with or without psychosis, compared to a large sample of patients with schizophrenia only and healthy controls

Patients with the 22q11.2 deletion syndrome (DS) show an increased risk of developing a psychotic illness lifetime. 22q11.2DS may represent a reliable model for studying the neurobiological underpinnings of schizophrenia. The study of social inference abilities in a genetic condition at high risk for psychosis, like 22q11.2DS, may shed light on the relationships between neurocognitive processes and patients' daily general functioning. The study sample consisted of 1736 participants, divided into four groups: 22q11.2DS patients with diagnosis of psychotic disorder (DEL SCZ, N = 20); 22q11.2DS subjects with no diagnosis of psychosis (DEL, N = 43); patients diagnosed with schizophrenia without 22q11.2DS (SCZ, N = 893); and healthy controls (HC, N = 780). Social cognition was assessed through The Awareness of Social Inference Test (TASIT) and general functioning through the Specific Levels of Functioning (SLoF) scale. We analysed data through regression analysis. The SCZ and DEL groups had similar levels of global functioning; they both had significantly lower SLoF Total scores than HC (p &lt; .001); the DEL SCZ group showed significantly lower scores compared to the other groups (SCZ, p = .004; DEL, p = .003; HC, p &lt; .001). A significant deficit in social cognition was observed in the three clinical groups. In the DEL SCZ and SCZ groups, TASIT scores significantly predicted global functioning (p &lt; .05). Our findings of social cognition deficit in psychosis-prone patients point to the possible future adoption of rehabilitation programmes, like Social Skills Training and Cognitive Remediation, during premorbid stages of psychosis

In vivo contribution of amino acid sulfur to cartilage proteoglycan sulfation

Cytoplasmic sulfate for sulfation reactions may be derived either from extracellular fluids or from catabolism of sulfur-containing amino acids and other thiols. In vitro studies have pointed out the potential relevance of sulfur-containing amino acids as sources for sulfation when extracellular sulfate concentration is low or when its transport is impaired such as in DTDST [DTD (diastrophic dysplasia) sulfate transporter] chondrodysplasias. In the present study, we have considered the contribution of cysteine and cysteine derivatives to in vivo macromolecular sulfation of cartilage by using the mouse model of DTD we have recently generated [Forlino, Piazza, Tiveron, Della Torre, Tatangelo, Bonafe, Gualeni, Romano, Pecora, Superti-Furga et al. (2005) Hum. Mol. Genet. 14, 859–871]. By intraperitoneal injection of [(35)S]cysteine in wild-type and mutant mice and determination of the specific activity of the chondroitin 4-sulfated disaccharide in cartilage, we demonstrated that the pathway by which sulfate is recruited from the intracellular oxidation of thiols is active in vivo. To check whether cysteine derivatives play a role, sulfation of cartilage proteoglycans was measured after treatment for 1 week of newborn mutant and wild-type mice with hypodermic NAC (N-acetyl-L-cysteine). The relative amount of sulfated disaccharides increased in mutant mice treated with NAC compared with the placebo group, indicating an increase in proteoglycan sulfation due to NAC catabolism, although pharmacokinetic studies demonstrated that the drug was rapidly removed from the bloodstream. In conclusion, cysteine contribution to cartilage proteoglycan sulfation in vivo is minimal under physiological conditions even if extracellular sulfate availability is low; however, the contribution of thiols to sulfation becomes significant by increasing their plasma concentration

Gastric cancer, inflammatory bowel disease and polyautoimmunity in a 17-year-old boy: CTLA-4 deficiency successfully treated with Abatacept

Gut involvement is frequent in immunologic disorders, especially with inflammatory manifestations but also with cancer. In the last years, advances in functional and genetic testing have improved the diagnostic and therapeutic approach to immune dysregulation syndromes. CTLA-4 deficiency is a rare disease with variable phenotype, ranging from absence of symptoms to severe multisystem manifestations and complications. We describe a rare case of CTLA-4 deficiency in a boy with gastric cancer, very early onset inflammatory bowel disease and polyautoimmunity, the second-ever reported in the literature with the same characteristics. A 17-year-old boy was referred to Bambino Gesu Children's Hospital of Rome, a tertiary care center, for a gastric mass and a long-term history of very early onset inflammatory bowel disease, diabetes mellitus type 1, polyarthritis and psoriasis. Histology of gastric biopsies revealed the presence of neoplastic signet ring cells. Imaging staging showed localized cancer; therefore, the patient underwent subtotal gastrectomy with termino-lateral gastro-jejunal anastomosis. Immunological work up and genetic testing by next-generation sequencing panels for primary immunodeficiencies led to the diagnosis of CTLA-4 deficiency. Good disease control was obtained with the administration of Abatacept. The patient experienced an asymptomatic SARS-CoV-2 infection without any concern. Eighteen months after treatment initiation, the patient is alive and well. Immunologic and genetic testing, such as next-generation sequencing, should always be part of the diagnostic approach to patients with complex immune dysregulation syndrome, severe clinical course, poor response to treatments or cancer. The early recognition of the monogenic disease is the key for disease management and targeted therapy. Copyright (C) 2021 Wolters Kluwer Health, Inc. All rights reserved

Gastric cancer, inflammatory bowel disease and polyautoimmunity in a 17-year-old boy

Gut involvement is frequent in immunologic disorders, especially with inflammatory manifestations but also with cancer. In the last years, advances in functional and genetic testing have improved the diagnostic and therapeutic approach to immune dysregulation syndromes. CTLA-4 deficiency is a rare disease with variable phenotype, ranging from absence of symptoms to severe multisystem manifestations and complications. We describe a rare case of CTLA-4 deficiency in a boy with gastric cancer, very early onset inflammatory bowel disease and polyautoimmunity, the second-ever reported in the literature with the same characteristics. A 17-year-old boy was referred to Bambino Gesu Children's Hospital of Rome, a tertiary care center, for a gastric mass and a long-term history of very early onset inflammatory bowel disease, diabetes mellitus type 1, polyarthritis and psoriasis. Histology of gastric biopsies revealed the presence of neoplastic signet ring cells. Imaging staging showed localized cancer; therefore, the patient underwent subtotal gastrectomy with termino-lateral gastro-jejunal anastomosis. Immunological work up and genetic testing by next-generation sequencing panels for primary immunodeficiencies led to the diagnosis of CTLA-4 deficiency. Good disease control was obtained with the administration of Abatacept. The patient experienced an asymptomatic SARS-CoV-2 infection without any concern. Eighteen months after treatment initiation, the patient is alive and well. Immunologic and genetic testing, such as next-generation sequencing, should always be part of the diagnostic approach to patients with complex immune dysregulation syndrome, severe clinical course, poor response to treatments or cancer. The early recognition of the monogenic disease is the key for disease management and targeted therapy. Copyright (C) 2021 Wolters Kluwer Health, Inc. All rights reserved