Subacute sclerosing panencephalitis (SSPE) is a late complication of measles virus infection that occurs in previously healthy children. This disease has no specific cure and is associated with a high degree of disability and mortality. In recent years, there has been an increase in its incidence in relation to a reduction in vaccination adherence, accentuated by the COVID-19 pandemic. In this article, we take stock of the current evidence on SSPE and report our personal clinical experience. We emphasise that, to date, the only effective protection strategy against this disease is vaccination against the measles virus.
Pediatricians play a crucial role in the identification and management of child abuse and neglect (CAN) but they often don’t have a formal specialized training. We analysed retrospectively data about patients, 0 - 18 years of age, victims of CAN between 1 April 2005 and 30 April 2015. The aim of the study was to evaluate the effect of a multidisciplinary educational program, “CAN: prevention strategies, individuation and treatment”, on the knowledge, case recognition, treatment and follow-up of physicians of Gemelli University Hospital in Rome, regarding physical, sexual abuse and neglect. This program, in 3 different editions biannually, respectively in May-July 2010, November-January 2012 and February-May 2014, was based on 4 sessions, each one of 2 days. Considering the number of victims of CAN between 2005 and 2015 we observed 66 cases of maltreatment. We divided the study population in 2 groups: group A, before the educational programs, patients evaluated from 1 April 2005 to 30 July 2010; group B, after the educational program from 1 August 2010 to 30 April 2015. We observed 23 children in group A and 43 children in group B with an improvement of 87%. Analyzing our data about sex, nationality, type of perpetrators, we found that: 37/66 (56%) of children were females compared to 29/66 (44%) males; 41/66 (62%) of children came from Italy compared to 25/66 (38%) of foreign children; 52/66 (79%) of the perpetrators of abuse were parents or family members compared to acquaintances 10/66 (15%) and to strangers 4/66 (6%). Considering the prevalence of CAN, the need to develop clinically competent clinicians and the improving of residency education in child maltreatment is imperative. Improving the clinical skills of pediatricians to identify and evaluate CAN may lead to reduce morbidity and mortality of these children.
27 October 2023 in Journal of Endocrinological Investigation
Purpose: Tall stature is defined as height greater than the threshold of more than 2 standard deviations above the average population height for age, sex, and ethnicity. Many studies have described the main aspects of this condition during puberty, but an analysis of the characteristics that the physician should consider in the differential diagnosis of gigantism—tall stature secondary to a pituitary tumour—during the transition age (15–25 years) is still lacking. Methods: A comprehensive search of English-language original articles was conducted in the MEDLINE database (December 2021-March 2022). We selected all studies regarding epidemiology, genetic aspects, and the diagnosis of tall stature and gigantism during the transition age. Results: Generally, referrals for tall stature are not as frequent as expected because most cases are familial and are usually unreported by parents and patients to endocrinologists. For this reason, lacking such experience of tall stature, familiarity with many rarer overgrowth syndromes is essential. In the transition age, it is important but challenging to distinguish adolescents with high constitutional stature from those with gigantism. Pituitary gigantism is a rare disease in the transition age, but its systemic complications are very relevant for future health. Endocrine evaluation is crucial for identifying conditions that require hormonal treatment so that they can be treated early to improve the quality of life and prevent comorbidities of individual patient in this age range. Conclusion: The aim of our review is to provide a practical clinical approach to recognise adolescents, potentially affected by gigantism, as early as possible.
Graphical Background: A high prevalence (40–75%) of organic brain lesions in boys with central precocious puberty (CPP) has been reported. Objectives: To evaluate the causes of CPP in a large cohort of males and to identify the possible predictive factors for organic brain lesions in males. Design: An observational study was conducted in 102 otherwise healthy boys with CPP diagnosed from 1998 to 2023 in a single tertiary center. Methods: All boys underwent a thorough clinical, endocrine and neuroimaging assessment with a detailed evaluation of the pituitary region. Results: Organic CPP was found in only 8/102 children (7.8%). Children with brain tumors were younger than 8 years, had no family history positive for precocious puberty and maternal menarche occurred at an age significantly more advanced than in children with idiopathic CPP. Headache was reported at diagnosis in 7/8 children with brain tumors. A progressive increase in the occurrence of idiopathic CPP in males has been observed in the last two decades with a peak of new diagnoses during the pandemic lockdown. Conclusions: Our findings indicate that the prevalence of pathological brain lesions in boys with CPP is considerably lower than previously reported, thus making the diagnosis less alarming. Age younger than 8 years, presence of neurological symptoms, family history negative for precocious puberty in the first-degree relatives and age of maternal menarche older than 11 years raise suspicion of organic CPP and should lead to prompt neuroimaging. Significance statement: Differently from what has been reported in most previous studies, our study has shown a low incidence of brain tumors in male children with precocious puberty, thus making the diagnosis less alarming for parents and physicians. Some criteria for a high index of suspicion of brain tumors in boys with precocious puberty have been identified. Finally, a progressive increase in the occurrence of idiopathic CPP in boys has been observed over the past two decades with a peak of new diagnoses during the pandemic lockdown, as previously reported in girls.
Objective: The aim of this study is to determine the impact of a motivational therapy (MT) on the outcomes for individuals diagnosed with nocturnal enuresis (NE). Material and methods: We enrolled 158 patients with NE referred to the Service of Pediatrics, Campus Bio-Medico University Hospital of Rome, from January 2013 to September 2017. Of these, 21 were excluded because they didn’t meet the inclusion criteria. The study was carried out in compliance with the Helsinki Declaration. Results: A hundred and thirty seven enuretic patients [100 (72.9%) male and 37 (27.1%)] female patients with a median age of 8.8 years were included in the study. The patients were assigned to receive pharmacological therapy with desmopressin (dDAVP) (G1) (n=51), MT (G2) (n=33) and both of them (G3) (n=53). The three groups were homogeneous, with no significant differences in gender, age and family history of NE. In G1, 30/51 (58.82%) children achieved response vs. 1/33 (3.0%) children in G2 vs. 35/53 (66.04%) children in G3. About these results, The differences between G2 vs. G1 (p<0.01) and vs. G3 (p<0.01) were statistically significant while the difference between G1 vs G3 was not statistically significant (p=0.45). Conclusion: Our study underlines the importance of MT in the management of NE and highlights the safety of treatment and the positive effect of MT on the compliance and the adherence to pharmacological therapy. Considering the importance of the impact of such evidence on children’s lifestyle, we expect that further study with a larger sample size may confirm our hypothesis. Cite this article as: Ferrara P, Amodeo ME, Sbordone A, Ianniello F, Verrotti A, Petitti T, et al. The impact of motivational therapy in the management of enuretic children. Turk J Urol 2018; 44: 346-50
31 March 2021 in Molecular Genetics & Genomic Medicine
Background: Dubowitz syndrome (DS) is a complex and rare condition characterized by postnatal growth retardation, microcephaly, short stature, mild developmental delay, facial dysmorphism, skin eruption and bone marrow failure. Though approximately 200 cases have been described so far, no specific genetic analysis, laboratory tests or radiological exams are available to confirm the diagnosis which is still based on clinical and facial features. Although short stature is a major feature of the syndrome, no endocrine alterations have been reported so far and scant data are available about the efficacy and safety of GH treatment in these patients.Methods: A 13‐year‐old male patient was referred to our attention for short stature. Endocrinological evaluation including GH axis, adrenal and gonadal functions were assessed. aCGH was performed.Results: 14q terminal microdeletion associated with Dubowitz phenotype was found. Endocrinological investigations revealed the presence of hypopituitarism which showed a satisfactory response to short‐term growth hormone therapy. The subject also started glucocorticoid replacement therapy. Disorders in pubertal progression and gonadal function were noted.Conclusions: Dubowitz syndrome (DS) includes different clinical findings variably occurring.Subjects with a Dubowitz phenotype should be carefully monitored for endocrinological anomalies. The prompt recognition of potential life‐threatening endocrinological condition for example adrenal insufficiency is mandatory in order to start an adequate and early treatment.