Marta Minute

Galinstan thermometer is more accurate than digital for the measurement of body temperature in children.

Background The mercury thermometer (MT) was considered the reference standard for the evaluation of body temperature; however, since April 2009, it has no longer been available in Italy. Objective This study aimed to evaluate the accuracy of digital thermometer (DT) and galinstan thermometer (GT) in comparison with the MT. Methods We prospectively recruited 284 children (age, 1 month to 17 years; mean, 8.5 years) seen in the emergency department of a tertiary pediatric hospital between November and December 2010. For each patient, body temperature was measured sequentially in the right axilla in a randomized fashion using DT, GT, and MT. Fever was defined as an axillary temperature of 37.5°C or greater. The temperature readings with DT and GT were compared statistically with those of MT (reference standard). Results No statistically significant difference in mean temperature was found between MT and GT in pairwise comparison (P = 0.06), whereas significant differences were found between MT and DT (P < 0.001) and between GT and DT (P < 0.001). Sensitivity and specificity of DT were 67.5% and 98.0%, respectively. When considering children with a temperature of 39°C or higher, the false-negative rate was 65.4% with DT and 30.8% with GT. Conclusions Although both DT and GT had good specificity and positive predictive value compared with MT, GT had higher sensitivity and a lower rate of false-negative rates. Galinstan thermometer is more accurate in the measurement of body temperature compared with DT or MT.

Sirolimus Therapy in Congenital Hyperinsulinism: A Successful Experience Beyond Infancy.

Congenital hyperinsulinism (CHI) due to diffuse involvement of the pancreas is a challenging and severe illness in children. Its treatment is based on chronic therapy with diazoxide and/or octreotide, followed by partial pancreatectomy, which is often not resolutive. Sirolimus, a mammalian target of rapamycin inhibitor, was reported to be effective in treating CHI in infants. We report here the case of an 8-year-old boy affected by a severe form of CHI due to a biallelic heterozygous ABCC8 mutation who responded to sirolimus with a dramatic improvement in his glucose blood level regulation and quality of life, with no serious adverse events after 6 months of follow-up. To the best of our knowledge, this is the first report of a successful intervention in an older child. It provides a promising basis for further studies comparing sirolimus with other treatments, particularly in older children.

Somatic symptom disorder was common in children and adolescents attending an emergency department complaining of pain

The aim of this study was to quantify the prevalence of somatic pain in a paediatric emergency department (ED).

An adolescent with disabling abdominal pain

A previously healthy teenager was taken to a paediatric emergency department with abdominal pain, nausea, and fatigue. The pain had started four months earlier and had increased in severity and frequency, occurring daily in the past month and resulting in her missing three weeks of school and preventing her from participating in other activities. Painkillers had not helped. The results of repeated diagnostic tests were all normal, including complete blood cell count; blood and faecal inflammatory markers; renal, hepatic, and pancreatic function; urine analysis; and serial abdominal ultrasound scans. Despite repeated medical evaluations, there was no defined diagnosis. The girl reported a dull discomfort in the periumbilical area. She had no fever, vomiting, stool alteration, weight loss, nocturnal pain, or sleep problems. Her parents were concerned that this was a serious illness, given the worsening of symptoms over the past month, the lack of response to drug treatment, and the absence of a clear diagnosis. On examination, the girl appeared well, although she rated her pain 8 out of 10. Vital signs were normal and cardiorespiratory and abdominal examinations were unremarkable.

Afebrile seizures in infants: Never forget magnesium!: Seizures due to hypomagnesaemia

A 5-month-old girl presented to the Emergency Department (ED) because of two self-remitting episodes of loss of consciousness and generalised jerking that lasted 2 min each, separated by a 15-min interval. On admission the baby was afebrile, pale and slightly hyporeactive, but made adequate eye interaction. No vomiting or diarrhoea was reported. Physical examination was unremarkable, and non-dysmorphic, skeletal abnormalities or focal neurological signs were not noted. Her past medical history was unremarkable: Her parents were non-consanguineous and she was delivered after a full-term pregnancy, no perinatal issues were reported. She had been both breast and bottle fed and she had begun her weaning 2 weeks earlier. Her immunisation state was up-todate and she had been assuming daily supplementary vitamin D (400 IU). After her arrival, she presented another generalised seizure; intravenous midazolam (0.1 mg/kg) was administered and the seizure resolved. The baby gained full consciousness but looked unwell. Empirical treatment with intravenous ceftriaxone (100 mg/kg) and acyclovir (1500 mg/m) was started. The interictal electroencephalography did not show epileptic anomalies. Brain computed tomography and magnetic resonance imaging scans were normal. Blood tests, instead, revealed an extremely severe hypomagnesaemia (0.16 mmol/L, normal range 0.75–0.95 mmol/L) associated with a mild hypocalcaemia (HSH) (1.85 mmol/L, normal range 2.18–2.58 mmol/L). Intravenous magnesium sulphate supplementation was started (10 mg/kg/h) and the patient was admitted to the Pediatric Intensive Care Unit (PICU). In the meanwhile, three further seizures occurred. Magnesium blood levels increased to the normal range in 48 h and the girl had no further crisis. Renal magnesium loss was excluded based on the magnesium excretion fraction (1%). No hypercalciuria or nephrocalcinosis was found. An intestinal malabsorption was ruled out by the absence of steatorrhea and by the normal levels of faecal elastases. Magnesium supplementation was eventually shifted from the intravenous to the oral route. Several dose adjustments had been necessary to obtain a stable magnesium level. The final therapeutic schedule consisted of six daily doses of magnesium pidolate (0.75 mg/dose, 0.9 mg/kg/day). Because the clinical picture and blood tests suggested primary hypomagnesaemia, a genetic analysis was performed and showed two mutations in the TRMP6 gene. The former is the known mutation c.2922delA (p.Ala975Glnfs*7), which she inherited from her mother, and the latter, c.5735A>G (p.Tyr1912Cys), is a novel variant, not previously reported in affected or healthy people. This mutation was inherited from her father. Moreover, the c.2922delA (p.Ala975Glnfs*7) involves an amino acid conserved across the species and it is predicted to be pathogenic by different webtools (Mutation Taste, PolyPhen2, PROVEAN, SIFT; J. Craig Venter Institute, La Jolla, CA, USA). Primary hypomagnesaemia with secondary HSH was subsequently diagnosed. One year after, the girl was healthy with a normal psychomotor development and has not presented any further seizure, even if some episodes of tremors and irritability have been reported, all of them concurrent with the detection of low magnesium blood levels.

Risk of hospitalisation after early-revisit in the emergency department

Early‐revisits are frequent in the paediatric emergency department (ED) setting, but few data are available about early‐revisited patients. The aim of this study was to investigate the hospitalisation rate of a population of early‐revisited patients and to detect if an early‐revisited patient was at risk of a more severe disease.

Children with cancer: a survey on the experience of Italian primary care pediatricians

BackgroundCancer is the second cause of death in children and its diagnosis can be difficult, due to the presence of vague and non-specific symptoms. The primary care pediatrician is often involved in the diagnostic process, but no longer in child care once the treatment started. Care models involving both primary care pediatricians and oncologic referral centre highlighted a higher family satisfaction when they worked together. We conducted a survey on primary care pediatricians involved in childhood cancer in order to describe the actual situation.MethodsWe conducted a retrospective survey enrolling primary care pediatricians from a north-eastern area of Italy. They received a questionnaire that consisted in two parts: the first one aimed to assess the physician’s seniority and experience and the second one pertained to each case of cancer and explored the relationship between the pediatrician, the family and the referral centre, and pediatricians degree of satisfaction and emotional impact.ResultsWe obtained data from 79 pediatricians who described 150 cancer cases. In 99 cases the primary care pediatrician had visited the child at the onset of symptoms and had referred him to the hospital. In 89 cases, he understood the severity of the disease. In 53.3% of cases the pediatrician was informed by the referral centre. The relationship between the pediatrician and child’s family improved in 38% of cases and this was related with their participation to the multidisciplinary meetings on child health.ConclusionsPrimary pediatricians’ sharing in the management of their patients with cancer was not satisfactory. Development of specific protocols targeted to an integrated care is needed to increase primary pediatricians’ involvement and families’ satisfactions.

Successful treatment of acne with isotretinoin in chronic granulomatous disease

Auteur(s) : Egidio BARBI1, Irene BERTI2, Marta MINUTE2 martaminute@gmail.com, Floriana ZENNARO3 1 Pediatria d’Urgenza, IRCCS Burlo Garofolo, University of Trieste, Italy 2 Clinica Pediatrica, IRCCS Burlo Garofolo, University of Trieste, Italy 3 Radiology Department, IRCCS Burlo Garofolo, University of Trieste, Italy Chronic granulomatous disease (CGD) is an immune deficiency caused by different mutations of the gene that encodes for the enzyme dinucleotide phosphate oxidase, which regulates free [...]