RESUMO
Juvenile dermatomyositis (JDM), an autoimmune idiopathic myositis, is characterized by rash and proximal muscle weakness. Immunohistopathology typically shows perivascular inflammatory infiltrate with predominance of CD4+ T lymphocytes, perifascicular atrophy, and upregulation of major histocompatibility complex class I. JDM has been attributed to a humoral-driven muscle microangiopathy probably implicating the type I interferon pathway. Tubulo-reticular inclusions present in endothelial cell of muscle are biomarkers of interferon exposure, and so may be an indirect data of this myopathy especially in the absence of rash and inflammatory infiltrate. We report on three patients in which electron microscopy solves the differential diagnosis among infantile myositis showing peculiar inclusions.
Assuntos
Dermatomiosite/patologia , Células Endoteliais/ultraestrutura , Músculo Esquelético/ultraestrutura , Biópsia , Criança , Pré-Escolar , Diagnóstico Diferencial , Diagnóstico Precoce , Feminino , Humanos , Masculino , Microscopia Eletrônica , Valor Preditivo dos TestesRESUMO
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disorder associated with brain iron accumulation. The brain MRI abnormality consists of T2 hypointensity in the globus pallidus with a small hyperintensity in its medial part, called the "eye-of-the-tiger" sign. We report on 2 patients affected by PKAN, in whom MRI examination did not demonstrate the "eye-of-the-tiger" sign in the early stages; the typical abnormalities were detected only in the following examinations. Case 1 is a 4-year-old boy first studied at age 2 years for psychomotor delay. The brain MRI was normal. In the following 2 years, the motor impairment progressed. The second brain MRI at age 4 years demonstrated the "eye-of-the-tiger" sign. Molecular analysis of the PANK2 gene revealed a missense mutation F228S in exon 2 in homozygosis. Case 2 is a 6-year-old boy first studied at age 2 years because of psychomotor delay. His brain MRI did not demonstrate abnormalities in the globus pallidus. In the following years spastic-dystonic tetraparesis became evident. A brain MRI at age 4 years demonstrated the "eye-of-the-tiger" sign. Molecular analysis of the PANK2 gene revealed a missense mutation in exon 5 (N501I). Our 2 cases demonstrate that the observation of a normal globus pallidus in the early stage of the disease does not exclude the diagnosis of classic PKAN.
Assuntos
Encéfalo/patologia , Neurodegeneração Associada a Pantotenato-Quinase/diagnóstico , Criança , Pré-Escolar , Progressão da Doença , Humanos , Imageamento por Ressonância Magnética/métodos , MasculinoRESUMO
BACKGROUND: The recent COVID-19 pandemic pointed out new burdens for researchers on mental health and that evidence-based (EB) studies on vulnerable populations are timely needed. The present paper aims at analysing the impact of suspicious of SARS-COV-2 infection in a cohort of parents presented at 3 major hospitals (spread between north and center of Italy) during the Italian COVID-19 pandemic phase 1. METHODS: Participants of the present cross-sectional, multicenter study were parental couples of children suspected to have COVID-19 who underwent testing with nasopharyngeal swabbing. All subjects were assessed by means of the: Impact of Event Scale-Revised (IES-R), Generalized Anxiety Disorder 7-Item (GAD-7) and Patient Health Questionnaire-9 (PHQ-9) in order to evaluate Post-traumatic stress (PTSS), anxiety, and depressive symptoms, respectively. OUTCOMES: Results evidenced that parents whose children tested positive for COVID-19 were more prone to developing PTSS, anxiety and depressive symptoms. The same results emerged for parents who had quarantined as opposed to those who had not. Moreover, patients who suffered economic damage showed a higher prevalence of anxiety and depressive symptoms, whereas PTSS was more common among unemployed subjects and among mothers. INTERPRETATION: This study identified a mental health strain represented by parenting a child who tested positive for SARS-CoV-2 infection. Further EB research is needed to develop evidence-driven strategies to reduce adverse psychological impacts and related psychiatric symptoms in caregivers of COVID-19 infected children during the next phases of the pandemic.
Assuntos
Transtornos de Ansiedade/psicologia , COVID-19/diagnóstico , COVID-19/psicologia , Pais/psicologia , Quarentena/psicologia , Transtornos de Estresse Pós-Traumáticos/psicologia , Ansiedade , Transtornos de Ansiedade/etiologia , Teste para COVID-19 , Estudos Transversais , Depressão , Humanos , Itália , Fatores Sexuais , Fatores Socioeconômicos , Transtornos de Estresse Pós-Traumáticos/etiologiaRESUMO
PURPOSE: The aim of this study is to describe demographic data, semiology and etiology in a pediatric population with status epilepticus (SE) and refractory SE (RSE). METHOD: We retrospectively reviewed patients with the following inclusion criteria: i) age between two months and eighteen years; ii) SE diagnosis; iii) admission from January 2001 to December 2016; iv) available clinical data. RESULTS: We enrolled 124 patients. Mean and median age was 4.6 ± 4.2 years and 3.3 [1.2-7.5] years respectively. SE had a "de novo" onset in 66.9%. Focal convulsive-SE was the most common semiology (50.8%) whilst generalised (32.3%) and nonconvulsive-SE (NCSE) (16.9%) were less represented. Some etiologies showed a different age distribution: febrile in youngest age (p = 0.002, phi 0.3) and idiopathic-cryptogenic in older children (p = 0.016, phi 0.2). A statistical significance correlation was detected between semiology and etiology (p < 0.001, Cramer's V 0.4), chemotherapy and NCSE (n = 6/21 vs 3/103, p < 0.001) as well as PRES and NCSE (n = 7/21 vs 5/103, p < 0.001). Only 17.7% had a RSE. No correlation was found in demographic and clinical data, but NCSE, acute and idiopathic-cryptogenic etiologies were more frequently associated to RSE. Encephalitis was the most common diagnosis in acute etiologies whereas unknown epilepsy in idiopathic-cryptogenic group. CONCLUSION: Most of our findings were previously described however we found a significant role of non-antiepileptic treatments (chemotherapy-dialysis) and comorbidity (PRES) determining acute etiology and NCSE. Acute (mostly encephalitis), idiopathic-cryptogenic (mainly unknown-epilepsy) and NCSE were frequently detected in RSE. In the above mentioned conditions a high level of suspicion was recommended.
Assuntos
Epilepsia Resistente a Medicamentos , Encefalite , Epilepsias Parciais , Epilepsia Generalizada , Síndrome da Leucoencefalopatia Posterior , Convulsões Febris , Estado Epiléptico , Doença Aguda , Criança , Pré-Escolar , Comorbidade , Estudos Transversais , Epilepsia Resistente a Medicamentos/epidemiologia , Epilepsia Resistente a Medicamentos/etiologia , Epilepsia Resistente a Medicamentos/fisiopatologia , Encefalite/complicações , Encefalite/epidemiologia , Epilepsias Parciais/epidemiologia , Epilepsias Parciais/etiologia , Epilepsias Parciais/fisiopatologia , Epilepsia Generalizada/epidemiologia , Epilepsia Generalizada/etiologia , Epilepsia Generalizada/fisiopatologia , Feminino , Humanos , Lactente , Masculino , Síndrome da Leucoencefalopatia Posterior/complicações , Síndrome da Leucoencefalopatia Posterior/epidemiologia , Estudos Retrospectivos , Convulsões Febris/complicações , Convulsões Febris/epidemiologia , Convulsões Febris/fisiopatologia , Estado Epiléptico/epidemiologia , Estado Epiléptico/etiologia , Estado Epiléptico/fisiopatologiaRESUMO
BACKGROUND AND PURPOSE: To review our experience of the efficacy and tolerability of felbamate in children younger than 4 years. METHODS: We used a retrospective chart review to identify 53 children with seizures who were younger than 4 years. Efficacy was evaluated based on the occurrence of responsiveness, defined as seizure frequency reduction of more than 50% for a minimum period of 4 months. Tolerability was based on parent-reported side effects. RESULTS: Twenty-two (41%) patients resulted to be responders and 31 (59%) did not. By univariate analysis, those achieving seizure remission were probably much older, to have a shorter history of epilepsy and a lower frequency of seizures before felbamate therapy. The number of antiepileptic drugs (AEDs) used before felbamate therapy was the only significant predictor of the duration of response to felbamate, with a longer responsiveness to the drug seen in those who were placed under fewer than three AEDs before felbamate compared with those who had taken more than three (median, 16 months vs. 7 months; P < 0.0084). Side effects occurred in 30% of the subjects, but these did not require discontinuation of the drug. DISCUSSION: Felbamate is an effective medication for a wide range of epilepsy syndromes in children younger than 4 years. Although caution is necessary when the drug is used in children, felbamate might represent a possible option for the treatment of epilepsy in this age group.
Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Fenilcarbamatos/uso terapêutico , Propilenoglicóis/uso terapêutico , Anorexia/induzido quimicamente , Anticonvulsivantes/administração & dosagem , Anticonvulsivantes/efeitos adversos , Pré-Escolar , Avaliação de Medicamentos , Resistência a Medicamentos , Felbamato , Feminino , Humanos , Lactente , Letargia/induzido quimicamente , Masculino , Estudos Multicêntricos como Assunto/estatística & dados numéricos , Fenilcarbamatos/administração & dosagem , Fenilcarbamatos/efeitos adversos , Propilenoglicóis/administração & dosagem , Propilenoglicóis/efeitos adversos , Estudos Retrospectivos , Transtornos do Sono-Vigília/induzido quimicamente , Fatores de Tempo , Resultado do TratamentoRESUMO
The aim of this multicentric, retrospective, and uncontrolled study was to evaluate the efficacy and safety of levetiracetam (LEV) in 81 children younger than 4 years with refractory epilepsy. At an average follow-up period of 9 months, LEV administration was found to be effective in 30% of patients (responders showing more than a 50% decrease in seizure frequency) of whom 10 (12%) became seizure free. This efficacy was observed for focal (46%) as well as for generalized seizures (42%). In addition, in a group of 48 patients, we compared the initial efficacy (evaluated at an average of 3 months of follow-up) and the retention at a mean of 12 months of LEV, with regard to loss of efficacy (defined as the return to the baseline seizure frequency). Twenty-two patients (46%) were initial responders. After a minimum of 12 months of follow-up, 9 of 48 patients (19%) maintained the improvement, 4 (8%) of whom remained seizure free. A loss of efficacy was observed in 13 of the initial responders (59%). Maintained LEV efficacy was noted in patients with focal epilepsy and West syndrome. LEV was well tolerated. Adverse events were seen in 18 (34%) patients. The main side effects were drowsiness and nervousness. Adverse events were either tolerable or resolved in time with dosage reduction or discontinuation of the drug. We conclude that LEV is safe and effective for a wide range of epileptic seizures and epilepsy syndromes and, therefore, represents a valid therapeutic option in infants and young children affected by epilepsy.
Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Piracetam/análogos & derivados , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Levetiracetam , Masculino , Piracetam/uso terapêutico , Estudos RetrospectivosRESUMO
AIM: To assess whether a very high number of prenatal ultrasonographies affects birthweight. POPULATION AND METHODS: We studied 1203 consecutive women who delivered in Siena Hospital. Exclusion criteria were the following: twin pregnancy, maternal smoke or alcohol ingestion in pregnancy, gestational diabetes, placenta or umbilical cord defects, gestational age at birth <37 weeks, and major malformations. We analysed birthweights in relation to the number of ultrasound examinations. 120 women had undergone a minimum number (three or less-base group) and 167 a maximum number (nine or more-intensive group) of fetal US scans. We compared the birthweight of the children born in these two groups and the correlation between number of US scans and birthweight in the whole population. RESULTS: Mean birthweights of the base and the intensive groups were 3389.5+/-434 g and 3268+/-438 g, respectively (p=0.0206). Nevertheless, the regression study did not show a significant correlation between birthweight and number of US scans. The mean age of the base group was 30.1+/-5.3 years and that of the intensive group was 32.09+/-4.99 years (p=0.0018). Eighteen women of base group underwent amniocenteses vs. 71 in the intensive group (p<0.001). In the base group 57.5% of the mothers had low school level vs. 24.4% in the intensive group (p<0.01). CONCLUSION: More studies are needed to confirm or exclude any relationship between an intensive use of prenatal ultrasounds and birthweight, and to exclude other effects of ultrasounds on children's health. Moreover, our study shows an excess of prenatal diagnostic procedures, the causes of which should be investigated.
Assuntos
Peso ao Nascer/fisiologia , Ultrassonografia Pré-Natal/estatística & dados numéricos , Adulto , Feminino , Humanos , Recém-Nascido , Gravidez , Análise de Regressão , Estudos Retrospectivos , Fatores de Risco , Ultrassonografia Pré-Natal/efeitos adversosRESUMO
The aim of this multicentric, prospective and uncontrolled study was to evaluate the efficacy and safety of levetiracetam in 110 children with refractory epilepsy, of whom 21 were less than 4 years old. After a median follow-up period of 7 months, levetiracetam administration was effective (responders with >50% decrease in seizure frequency) in 39% of children, of whom 10 (9%) became seizure-free. The efficacy was higher in patients with localization-related epilepsy (58% of responders) than in those with generalized epilepsy (37% of responders). Levetiracetam was well tolerated. The main side effects of somnolence and irritability occurred in 14% of patients. In one patient acute choreoathetosis occurred after few doses of levetiracetam. Overall, the adverse effects were not severe. Children younger than 4 years were particularly tolerant. In conclusion, the present study confirms that levetiracetam is effective and well tolerated as an add-on treatment in children with refractory epilepsy. Our preliminary data also indicate that levetiracetam may be a valid therapeutic option for epilepsy in infants and young children.
Assuntos
Anticonvulsivantes/uso terapêutico , Avaliação de Medicamentos , Epilepsia/tratamento farmacológico , Piracetam/análogos & derivados , Piracetam/uso terapêutico , Relação Dose-Resposta a Droga , Quimioterapia Combinada , Eletroencefalografia , Epilepsia/classificação , Feminino , Seguimentos , Humanos , Lactente , Levetiracetam , Masculino , Exame Neurológico , Estudos Prospectivos , Estudos Retrospectivos , Resultado do TratamentoRESUMO
Congenital Cataracts with Facial Dysmorphisms and Neuropathy (CCFDN) is a complex autosomal recessive disorder characterized by bilateral congenital cataracts, developmental delay, peripheral; hypo-demyelinating neuropathy, mild facial dysmorphisms, and other rare signs. Cerebral and spinal cord atrophy is the main neuroimaging finding but other less common abnormalities have been previously described. We describe progressive focal lesions of supratentorial white matter in a 10-year-old boy affected by CCFDN. Other etiologies have been excluded and these lesions can be considered a new finding of the disease. We discuss a possible demyelinating mechanism affecting both peripheral and central myelin.
Assuntos
Catarata , Córtex Cerebral/patologia , Face/anormalidades , Doenças do Nervo Facial , Fibras Nervosas Mielinizadas/patologia , Catarata/complicações , Catarata/congênito , Catarata/patologia , Criança , Doenças do Nervo Facial/complicações , Doenças do Nervo Facial/congênito , Doenças do Nervo Facial/patologia , Humanos , Imageamento por Ressonância Magnética/métodos , MasculinoAssuntos
Doenças Hematológicas/terapia , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Síndrome da Leucoencefalopatia Posterior/etiologia , Criança , Pré-Escolar , Feminino , Doenças Hematológicas/complicações , Humanos , Lactente , Estimativa de Kaplan-Meier , Masculino , Modelos de Riscos Proporcionais , Fatores de Risco , Síndrome , Transplante Homólogo , Resultado do TratamentoRESUMO
AIM: We recently developed the ABC scale to assess pain in term newborns. The aim of the present study was to assess the reliability of the scale in preterm babies. MATERIAL AND METHODS: The scale consists of three cry parameters: (a) pitch of the first cry, (b) rhythmicity of the bout of crying and (c) cry constancy. Changes in these parameters were previously found to distinguish medium and high levels of pain as evaluated by spectral analysis of crying. We enrolled 72 babies to perform the steps usually requested to validate a scale, namely the study of the concurrent validity, specificity and sensibility. Moreover, we assessed the interjudge reliability and the clinical utility and ease of the scale. RESULTS: A good correlation (r = 0.68; r(2)= 0.45; p < 0.0001) was found between scores obtained with the ABC scale and the premature infant pain profile (PIPP) scale, demonstrating a good concurrent validity. The scale also showed good sensitivity and specificity (we found statistically significant differences between mean values of scores obtained in babies who underwent pain and babies who underwent non-painful stimulus.) Interobserver reliability was good: Cohen's kappa = 0.7. CONCLUSION: The good correlation between the two scales shows that the ABC scale is also reliable for premature babies.
Assuntos
Choro , Recém-Nascido Prematuro , Medição da Dor/métodos , Humanos , Comportamento do Lactente , Recém-Nascido , Itália , Modelos Lineares , Variações Dependentes do Observador , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
AIMS: To assess the analgesic effect of passive or active distraction during venipuncture in children. METHODS: We studied 69 children aged 7-12 years undergoing venipuncture. The children were randomly divided into three groups: a control group (C) without any distraction procedure, a group (M) in which mothers performed active distraction, and a TV group (TV) in which passive distraction (a TV cartoon) was used. Both mothers and children scored pain after the procedure. RESULTS: Main pain levels rated by the children were 23.04 (standard deviation (SD) 24.57), 17.39 (SD 21.36), and 8.91 (SD 8.65) for the C, M, and TV groups, respectively. Main pain levels rated by mothers were 21.30 (SD 19.9), 23.04 (SD 18.39), and 12.17 (SD 12.14) for the C, M, and TV groups, respectively. Scores assigned by mothers and children indicated that procedures performed during TV watching were less painful (p<0.05) than control or procedures performed during active distraction. CONCLUSION: TV watching was more effective than active distraction. This was due either to the emotional participation of the mothers in the active procedure or to the distracting power of television.
Assuntos
Analgesia/métodos , Dor/prevenção & controle , Flebotomia/métodos , Televisão , Criança , Feminino , Humanos , Masculino , Dor/psicologia , Medição da Dor , Flebotomia/efeitos adversosRESUMO
AIM: The aim of this study was to assess whether bed rest during pregnancy is a risk factor for infantile colics. METHODS: In a previous paper a questionnaire was administered to 86 women (43 of whom had stayed in bed during pregnancy for a mean of 3.4+/-1.2 months, and 43 were controls) about the clinical history and the present state of their 11-15 year old babies. In the present paper we traced these women and assessed the presence/absence of unexplained infant crying (UIC, infantile colic), diagnosed by a physician in the first year of life of these children. Forty mothers answered the inquiry, and we compared their answers with 40 control mothers. RESULTS: Babies born after maternal bed rest during pregnancy had a higher incidence of UIC than the control group (26/40 vs 11/40; P=0.0015). No significant correlation was found between UIC and allergies or between UIC and maternal or artificial breast feeding. CONCLUSIONS: Our retrospective study shows a possible association between bed rest and UIC: further studies, including other important variables (stress, drugs, smoking) are needed.
Assuntos
Repouso em Cama/estatística & dados numéricos , Cólica/epidemiologia , Choro , Comportamento do Lactente , Comportamento Materno , Terceiro Trimestre da Gravidez/fisiologia , Feminino , Humanos , Recém-Nascido , Período Pós-Parto , Gravidez , Estudos Retrospectivos , Inquéritos e QuestionáriosRESUMO
Pain is traumatic for preterm infants and can damage their CNS. We wanted to assess whether multisensorial stimulation can be analgesic and whether this effect is only due to oral glucose or sucking. We performed a randomized prospective study, using a validated acute pain rating scale to assess pain during heel-prick combined with five different procedures: (A) control, (B) 10% oral glucose plus sucking, (C) sensorial saturation (SS), (D) oral water, and (E) 10% oral glucose. SS is a multisensorial stimulation consisting of delicate tactile, vestibular, gustative, olfactory, auditory and visual stimuli. Controls did not receive any analgesia. We studied 85 heel-pricks (5 per baby) performed for routine blood samples in 17 preterm infants (28-35 weeks of gestational age). We applied in random order in each patient the five procedures described above and scored pain. SS and sucking plus oral glucose have the greater analgesic effect with respect to no intervention (p < 0.001). The effect of SS is statistically better than that of glucose plus sucking (p < 0.01). SS promotes interaction between nurse and infant and is a simple effective form of analgesia for the NICU.
Assuntos
Analgesia/métodos , Coleta de Amostras Sanguíneas/efeitos adversos , Calcanhar , Recém-Nascido Prematuro , Sensação , Ingestão de Líquidos , Idade Gestacional , Glucose/administração & dosagem , Humanos , Recém-Nascido , Medição da Dor , Estudos Prospectivos , Comportamento de SucçãoRESUMO
AIM: The aim of this paper is to assess the entity of the mechanical vibrations which newborn and medical staff are exposed to and to evaluate the possible risks connected with excessive exposure. METHODS: Vibrations during a simulated emergency ambulance transport were studied. Vibration values with an accelerometer at the level of the incubator's mattress and at passengers' and pilot's seat level were measured. Mean accelerations (awz) and peak accelerations (awpeak), measured using a ponderation filter, according with ISO standard 2631, were considered. RESULTS: Inside the incubator an acceleration mean value of 1.33 (+/-0.13) m/s(2) and peak values of 11.8 (+/-0.1) m/s(2) were found. On passengers' seats the awz findings were 0.55 m/s(2) (+/-0.13) and 0.56 m/s(2) (+/-0.08) while awpeak respectively 4.8 m/s(2) (+/-0.1) and 10.2 m/s(2) (+/-0.1). On pilot's seat a mean acceleration of 0.48 m/s(2) (+/-0.08) and an awpeak value of 4.5 m/s(2) (+/-0.1) were found. CONCLUSION: Peak vibration values which newborns are exposed to (11.8 m/s(2)) are high, when compared with acceleration of gravity (9.8 m/s(2)); this can provoke repeated jerks. Environmental stress can easily alter the stability of an ill newborn and interfere with care manoeuvres. Decreasing vibrations in neonatal transport unit could increase the safety of newborns, reducing the risks which newborns are actually exposed to.