1,720,970 research outputs found
Fifteen-minute consultation: The approach to the child with precocious puberty
No full textPrecocious puberty has traditionally been defined as the onset of secondary sexual characteristics occurring before age 8 years in girls and 9 years in boys. This earlier onset of puberty may have significant physical and psychological consequences if left untreated. Moreover, it should be excluded that pubertal signs are not secondary to malignancies, other organic aetiologies or associated syndromic phenotypes. Initial assessment involves a thorough medical history and physical examination; a hand and wrist X-ray to determine bone age, and hormonal tests might be indicated to confirm the diagnosis and to determine the origin of hormonal production. Treatment options depend on the underlying cause. Given the complexity of the differential diagnosis, this article aims to familiarise clinicians with the different steps that can be taken when precocious puberty is suspected
Case report: A relevant misdiagnosis: Photosensitive epilepsy mimicking a blinking tic
Full text linkBlinking in children is most frequently a functional and transient symptom. Nonetheless, sometimes it is the first clinical manifestation of a neurological disorder. The differential diagnosis between voluntary actions, tics and other neurological disorders among which seizures may be challenging and misdiagnosis is common. A 6-year-old girl in good health was admitted for a recent history of bilateral eye blinking. Blinking did not interfere with the girl's activities. The patients reported that blinking seemed to be triggered by sunlight exposure and that girl sometimes seemed to be attracted by the sunlight. Ophthalmological diseases had been already excluded. The girl was addressed to our hospital for neurological consultation, as tic disease was considered the most probable hypothesis. Neurological examination was negative. In the field of differential diagnosis of photosensitive abnormal eyelid movements, the hypothesis of seizures was explored and further investigated with a video-EEG recording with light stimulation. This exam demonstrated a photoparoxysmal response (PPR) to intermittent photic stimulation with appearance on EEG of bilateral spike and polyspike waves associated with eyelid jerks. This girl suffers from generalized epilepsy with photosensitivity. Photosensitivity is a common feature of many epilepsy syndromes, mainly occurring in children and adolescents. To control the seizures, it is essential to avoid the triggering stimulus, by wearing specific glasses. Additional antiseizures treatment is often necessary, at first with valproate and levetiracetam, and ethosuximide, lamotrigine, and benzodiazepines as the second choice. Overlapping phenomenology of seizures and movement disorders is well known in paediatric clinical practice. Moreover, epilepsy and movement disorder may coexist, mainly in children. Seizures with semeiology limited to eye motor manifestations may mimic functional blinking, tics, and other motor events frequently observed in childhood. Differentiating seizures from other non-epileptic paroxysmal movements may be challenging and specialist evaluation is needed for proper treatment and prognostic counselling
Ipotiroidismo subclinico: realtà e falsi miti
No full textSubclinical hypothyroidism (SH or hyperthyrotropinemia) is a biochemical condition defined as elevated serum TSH concentrations and normal thyroxine (FT4). Generally, it is asymptomatic and is distinguished in mild (TSH between the upper limit and 9.9 μUI/ml) and severe (TSH equal to or higher than 10 μUI/ml). Replacement L-thyroxine treatment is requested for the severe form, while mild form treatment is still debated. In children, SH is usually a benign and remitting condition and progression to overt hypothyroidism is uncommon. By contrast, the risk of a deterioration of thyroid status is higher in children with
SH and Hashimoto’s thyroiditis or chromosomal abnormalities, such as Turner syndrome or trisomy 21. Thyroid function is involved in many aspects of growth and development; therefore, it is important to evaluate whether untreated hyperthyrotropinemia implies longterm consequences. On the contrary, mild thyroid dysfunction is improperly considered the cause of some clinical issues, such as obesity, sleep disorders and constipation. Finally, testing only TSH and FT4 in the suspicion of hypothyroidism is highly recommended
Experience on the long-term use of canakinumab in mevalonate kinase deficiency: A case series
Full text linkWe really appreciated the article “Long-term efficacy of canaki- numab in hyperimmunoglobulin D syndrome” recently published by your Journal. Indeed, although the treatment has been approved for hyperimmunoglobulin D syndrome (or mevalonate kinase de- ficiency – MKD), scarce data are available from real-world experi- ences. The “cluster” clinical trial for drug approval showed that the response to canakinumab is less predictable in MKD than in other autoinflammatory disorders, and several patients only show a par- tial response. To further describe long-term experience with canaki- numab in MKD, we would like to share our experience on its use at the Rheumatology Service of the Institute for Maternal and Child Health IRCCS Burlo Garofolo Hospital in Trieste, Italy
Research Communication: Prevalence of Acute Reactions After Gluten Ingestion in Patients With Coeliac Disease—A Retrospective Study
No full textMost gluten exposures in patients with coeliac disease on gluten-free diet were considered asymptomatic or causing chronic symptoms, but some report severe acute reactions like vomiting, diarrhoea and prostration. Assess acute reactions following gluten ingestion. Retrospective study on paediatric and adult patients. A questionnaire investigated symptoms after gluten ingestion. 221 adults and 53 children were enrolled; 72% reported symptoms within 4 h. Vomiting was most common in children, diarrhoea in adults. Patients on gluten-free diet may experience acute symptoms after accidental gluten ingestion. Further research is needed on frequency, triggers, and implications
Parvovirus: un solo virus per tante malattie
No full textParvovirus B19 causes a wide range of clinical manifestations, with a peak incidence between 5 and 15 years of age. The spectrum of clinical manifestations associated with Parvovirus infection varies depending on the host's age, haematological status and immune status. While common manifestations are generally easy to identify and allow an immediate diagnosis, uncommon ones often lead to confusion and diagnostic delays. The paper describes five cases of Parvovirus B19 infection with atypical presentation: dactylitis, cholestatic hepatitis, reactivation of autoimmune hepatitis, cerebellitis, and haemophagocytic lymphohistiocytosis
Preparazioni galeniche in Pediatria: cosa sanno e cosa dovrebbero sapere i pediatri
No full textBackground - The prevalence of children with medical complexity is increasing, due to an improvement in both neonatal survival and care possibilities. Often, these children have percutaneous gastrostomy or nasogastric tube, but many of the drugs available on the market are not completely suitable for administration through these devices and must therefore first be crushed and dissolved in little water. Galenic drugs can overcome this problem.
Objectives - To evaluate the knowledge of galenic compounds among paediatricians.
Materials and methods - An anonymous questionnaire was administered to hospital paediatricians, family paediatricians and paediatric residents in the Friuli-Venezia Giulia region to investigate their knowledge regarding the definition, indications, advantages and legislation that regulates the use of galenic drugs in Italy.
Results - 65 family paediatricians (57.5%), 39 hospital paediatricians (36.1%) and 47 residents (41.2%) responded to the questionnaire. Overall, both family and hospital paediatricians (specialists and trainees) know galenic preparations and their main indications. However, most do not know the legislation for their use and the correct procedure for their prescription. About half of the hospital paediatricians and a third of the family ones incorrectly answered that galenical preparations cost more than or as much as the commercial product. Furthermore, about 15% of both categories said that galenic compounds are less safe than the commercial product.
Conclusions - Galenic preparations are a valid opportunity for optimizing the therapies of children with medical complexity. However, the knowledge of these preparations is still very poor
Safety and Effectiveness of Compounded Galenic Cholic Acid for Bile Acid Synthesis Disorder: A Case Report
No full textBackground: Bile acid synthesis disorders are rare congenital diseases that can lead to cirrhosis and end-stage liver disease if left untreated. Cholic acid administration is the only treatment that can prevent patients from fatal outcomes. Since 2013 in Europe, there has been just one formulation of cholic acid: Orphacol®. It is difficult to administer to infant patients because of its formulation (capsules) and the need for dose titration depending on the patient’s weight.
Case Presentation: Two sisters affected by 3-β-hydroxy-Δ-5-C27-steroid dehydrogenase deficiency showed soon after birth failure to thrive, cholestasis, and fat-soluble vitamin deficiency. Both biochemical findings and liver biopsies confirmed cholestasis and initial liver damage. Patients were treated for eight years with a liquid formulation of a cholic acid galenic compound, and then they started to be treated with capsules of the registered drug. Clinical conditions and biochemical findings were checked periodically during both therapies.
Conclusion: Clinical and laboratory data showed no differences between the cholic acid galenic compound and the registered drug in terms of efficacy and safety. Furthermore, the galenic compound showed benefits of more manageable dose titration, easier intake due to its liquid formulation, and lower costs than commercial cholic acid capsules
Life‐threatening anaphylaxis in children with cow's milk allergy during oral immunotherapy and after treatment failure
Full text linkBackground: Oral immunotherapy (OIT) is a promising therapeutic approach for children with persistent IgE-mediated cows milk allergy (CMA) but data are still limited.Objective: To analyze the prevalence of life-threatening anaphylaxis in children with persistent CMA undergoing OIT and to evaluate potential risk factors.Methods: This is a retrospective cohort study among children with persistent CMA undergoing OIT over a 20-year period, following a specific Oral Tolerance Induction protocol. Adverse reactions during the whole period and data on long-term outcome were registered. Descriptive and nondescriptive statistics were used to describe data.Results: Three hundred forty-two children were evaluated. During OIT, 12 children (3.5%) presented severe anaphylactic reactions that needed an adrenaline injection. None required intubation, intensive care unit (ICU) admission, or showed a fatal outcome. Five of them abandoned OIT, five reached unrestricted diet and the others are still undergoing OIT. As far as outcome is concerned, 51.2% reached an unrestricted diet; 13.5% are at the build-up stage; and 28.0% (97 patients) stopped the OIT. Among these 96 children, 6.3% experienced a severe reaction induced by accidental ingestion of milk with two fatal outcomes.Conclusions: The risk of life-threatening reactions was nearly two times lower (3.5% vs. 6.3%) among patients assuming milk during OIT than in those who stopped the protocol. A trend in favor of more severe reactions, requiring ICU admission, or fatal, was shown in patients who stopped OIT
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