An investigation of 14 patients with Shwachman syndrome (SS), using standard and molecular cytogenetic methods and molecular genetic techniques, showed that (1) the i(7)(q10) is not, or not always, an isochromosome but may arise from a more complex mechanism, retaining part of the short arm; (2) the i(7)(q10) has no preferential parental origin; (3) clonal chromosome changes, such as chromosome 7 anomalies and del(20)(q11), may be present in the bone marrow (BM) for a long time without progressing to myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML); (4) the del(20)(q11) involves the minimal region of deletion typical of MDS/AML; (5) the rate of chromosome breaks is not significantly higher than in controls, from which it is concluded that SS should not be considered a breakage syndrome; (6) a specific kind of karyotype instability is present in SS, with chromosome changes possibly found in single cells or small clones, often affecting chromosomes 7 and 20, in the BM. Hence, we have confirmed our previous hypothesis that the SS mutation itself implies a mutator effect that is responsible for MDS/AML through these specific chromosome anomalies. This conclusion supports the practice of including cytogenetic monitoring in the follow-up of SS patients.
Acute mastoiditis (AM) is the most common complication of acute otitis media (AOM) and is one of the most severe acute bacterial diseases in infants and children. In some geographic areas, the incidence of AM is increasing, and the causative role of some bacterial pathogens could be greater than previously thought. In this paper, the results of a study that evaluated the epidemiology and microbial etiology of paediatric AM in Umbria, which is a region of central Italy, are reported. This is a retrospective study of patients aged 0–14 years with AM admitted to the pediatric wards of the hospitals of Umbria, Italy, between June 1 and September 30 in four consecutive years (2015–2018). A total of 108 children were enrolled. The prevalence of AM in males during the four years of analysis was significantly higher than that in females at 63% (95% confidence intervals [CI]: 0.54–0.72). The most frequently affected age groups were 5–9 years (45.4%) and 10–14 years (31.5%), with statistically significant differences in comparison with children aged <1 year (5.6%, 95% CI: 0.01–0.10) and 1–4 years (17.6%, 95% CI: 0.10–0.25). In most cases (64, 59.3%), AM was associated with spontaneous tympanic membrane perforation (STP). The culture of the middle ear fluid revealed the presence of Pseudomonas aeruginosa in 56 cases (51.6%). The mean incidence rates of pediatric AM in Umbria during the study increased significantly with time, as it was 18.18/100,000 children/year in 2015–2016 and 29.24/100,000 children/year in 2017–2018 (CI difference: +2.5 – +19.9, p < 0.05). The incidence rates of Pseudomonas aeruginosa detection in pediatric AM associated with STP significantly increased with time. The incidence was 6.06/100,000 children/year in 2015–2016 and 18.61/100,000 children/year in 2017–2018 (CI difference: +6.1 – +19.0, p < 0.001). This study demonstrated the high and increasing incidence of AM in the Umbria region during the summer months and the frequent detection of P. aeruginosa as an etiologic agent of the disease in the presence of STP. Confirmation of these results with a larger study population, in different settings, and throughout the whole year is needed to define the first-line approach of AM with STP in pediatrics.
Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder clinically characterized by megaloblastic anemia, benign mild proteinuria, and other nonspecific symptoms. Several pathogenetic variants in the amnionless (AMN) or cubilin (CUBN) genes have been described in IGS. We describe a case of IGS with urinary tract infection and mild but persistent proteinuria at onset in an 11-month-old female child. With the appearance of macrocytic anemia, aphthous stomatitis, and neurological signs, IGS was clinically suspected, and vitamin B12 parenteral therapy was started. Sequence analysis showed the presence of a novel intronic variant c.513+5G>A of AMN, never before described in the literature, that was in compound heterozygosity with the known pathogenetic variant c.1006+34_1007-31del. Analysis extension to the parents revealed the presence of variant c.1006+34_1007-31 in the father and c.513+5G>A in the mother. In the present case with IGS, the novel intronic variant of AMN was identified in “trans” with a known pathogenic variant (c.1006-31 del) and the new variant was interpreted to be pathogenetic since it was not found in the public database of polymorphisms and because it was predicted to alter a donor splicing site. Our case underlines the relevance in detecting certain subtle symptoms, such as mild but persistent proteinuria associated with megaloblastic anemia, to reach a correct diagnosis of a rare but treatable disorder.
Background: Imunoglobulin A (IgA) deficiency (IgAD) is the most common form of primary immunodeficiency in Western countries. There have been several reports on IgAD complicated by glomerulonephritis in adults, but only very few cases of IgAD with nephropathy have been reported in children. We present two cases of IgAD with relapsing nephrotic syndrome in pediatric age. Case presentation: A 4-year-old boy and a 2-year-old boy presented with bilateral periorbital oedema and weight gain. The results of laboratory tests revealed IgAD (IgA < 7 mg/dL), normal creatinine, hypoprotidaemia, hypoalbuminaemia, and nephrotic proteinuria. A diagnosis of IgAD and idiopathic nephrotic syndrome was made, and steroid treatment (prednisone 60 mg/mq/day) was started. During steroid tapering, the children experienced several relapses and to obtain a positive outcome they required therapy with human monoclonal anti-CD20 antibodies (rituximab in the first child, ofatumumab in the second one). Conclusions: Our cases highlight that IgAD can be observed in nephrotic syndrome and nephropathy in children with IgAD appears to be complicated and difficult to treat with corticosteroids alone. Further research is needed to better describe the clinical manifestations and pathological pictures among subjects with IgAD and nephrotic syndrome to understand whether IgAD has a prognostic value in children with nephrotic syndrome and to let clinical physicians define a more personalized and appropriate approach for the management of these patients.
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