Italian Journal of Pediatrics
Công bố khoa học tiêu biểu
* Dữ liệu chỉ mang tính chất tham khảo
Sắp xếp:
Congenital nephrotic syndrome associated with 22q11.2 duplication syndrome in a Chinese family and functional analysis of the intronic NPHS1 c. 3286 + 5G > A mutation
Italian Journal of Pediatrics - Tập 45 - Trang 1-6 - 2019
Congenital nephrotic syndrome (CNS), which is defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia and edema, is most caused by monogenic defects in structural proteins of the glomerular filtration barrier in the kidneys. 22q11.2 duplication syndrome was a chromosomal disease with variable clinical featuresranging from normal to mental retardation and with congenital defects. Co-occurrence of two genetic disorders in a single patient is rare. The proband was born at 36 weeks of gestational age spontaneously and weighed 2350 g at birth. Six days after birth, the proband was admitted to our hospital due to fever of 38.5 °C lasting for 6 h. Physical examination at admission time showed dysmorphic features of hypertelorism, palpebral edema, broad nose bridge, upturned nose, dysmorphic auricle, long philtrum, and a thin upper lip. Additionally, we found left wrist drop and bilateral strephexopodia, bilateral knee joint flexion contracture in this patient. A series of indicators were detected and showed abnormalities. Albumin was used to remit the hypoproteinemia and edema. However, the parents refused to accept further therapy and the boy died at age 3 months due to cachexy. To confirm the pathogenesis, genetic analysis were performed and revealed two mutations of NPHS1 gene: Exon18: c.2386G > C; p. (Gly796Arg) inherited from mother, and intron24: c.3286 + 5G > A; p.? inherited from father. And he also had a 22q11.2 duplication which was inherited from his mild affected mother. The pathogenesis of the intronic mutation has been further identified that it can defect alternative splicing of NPHS1. We present a patient who was caught in congenital nephrotic syndrome and 22q11.2 duplication syndrome simultaneously, emphasizing the importance of new sequencing technology on diagnosis of different genetic disorders.
A focus on recent cases of suicides among Italian children and adolescents and a review of literature
Italian Journal of Pediatrics - Tập 40 - Trang 1-5 - 2014
Suicidal behaviors are among the leading causes of death worldwide. The large spread of suicide suggests that educational programs and literature to parents or guardians should include information about the potential risks and potential consequences of the onset of the idea of suicide in children. We identified 55 cases of suicide among children and young adults <18-year-old occurring in Italy between 1st January, 2011 and 31st December, 2013. The results point to the need to increase our understanding of the dramatic rise in suicidal behaviors during childhood/adolescence and of the causal pathways linking these behaviors to child-adolescent mental disorders. During routine care visits, pediatricians should be skilled to recognize risk factors for adolescent suicide in order to intervene appropriately.
Prolonged survival after splenectomy in Wiskott-Aldrich syndrome: a case report
Italian Journal of Pediatrics - Tập 37 - Trang 1-4 - 2011
Wiskott-Aldrich syndrome is a rare X-linked immunodeficiency disorder that is characterized by a variable clinical phenotype. Matched donor bone marrow transplantation is currently the only curative therapeutic option. We present the case of a 24-year-old male who was diagnosed at the age of seven with Wiskott-Aldrich syndrome. He did not respond to intravenous gammaglobulin and he experienced recurrent pulmonary infections despite prophylactic antibiotics. The patient had no matched donor. At the age of nine, he was submitted to splenectomy and his platelet count was normalized. Fifteen years later, the patient remains asymptomatic with a normal platelet count. He is still receiving prophylactic antibiotics and no bleeding episodes or septic complications have been reported. This case demonstrates that splenectomy can represent a safe therapeutic option in selected WAS patients, provided that there is a tight follow-up program, patient education and adherence to guidelines regarding post-splenectomy prophylaxis.
Radiation risks knowledge in resident and fellow in paediatrics: a questionnaire survey
Italian Journal of Pediatrics - Tập 41 - Trang 1-7 - 2015
Analyse through a multi-choice anonymous questionnaire the knowledge’s level in paediatric residents and fellows in two different main Italian hospital, looking mainly to the information to patients and relatives related to risks of ionizing radiation used in common radiological investigations in children. 65 multi choice questionnaires were distributed to paediatric residents and fellows of two different hospitals, an University Hospital (A.O.U.P. “P. Giaccone”- University of Palermo) and a national reference centre for paediatrics (Ospedale Pediatrico Bambino Gesù - Rome). The questionnaire included twelve multiple-choice questions with the aim of analyzing the knowledge about ionizing radiation related risks in infants and children who undergo common diagnostic radiology investigations. The data obtained were processed using software Stata/MP version 11.2. In order to measure the level of expertise of each interviewee a binary indicator was built. The value 1 was assigned if the percentage of correct answers exceeds the median of the distribution and 0 for values not exceeding the median. The association between the level of competence and demographic characteristics (gender, age) and training experience was measured by means of α2 test. 51/65 questionnaires were completed, returned and analysed (87.7%). Only 18 surveyed (35%), (95% IC = [22%-48%]) can be defined as competent in radiation risk knowledge for common radiological investigations, considering the percentage of correct answers at least of 50% (sufficient knowledge was given with a minimum score of 8 correct answers out of 12). The study demonstrates an urgent need to implement the radiation protection knowledge in the training programme of paediatricians, that improve if just a short targeted training is performed.
Specific antibody titer decay in neonates prenatally exposed to Toxoplasma gondii and their mothers
Italian Journal of Pediatrics - Tập 48 - Trang 1-6 - 2022
For infants exposed in utero to Toxoplasma gondii, current guidelines recommend monitoring the specific antibody titer until 12 months of age. In this study, we investigated the antibody titer decay in the mother-infant dyad. This is a single center, population-based cohort study of neonates referred for prenatal exposure to Toxoplasma gondii from January 2014 to December 2020. All infants underwent clinical, laboratory, and instrumental investigation for at least 12 months. A total of 670 eligible neonates were referred to the Perinatal Infection Unit of the University Federico II of Naples. 636 (95%) completed the serological follow up until 12 months. Specific IgG antibodies negativization occurred in 628 (98.7%) within 5 months. At 9 and 12 months, all patients had negative IgG. An initial neonatal IgG antibody titer ≥ 200 IU/ml was associated with a longer time to negativization (184 [177.5;256] days when above threshold vs. 139.5 [101;179] days when below it; p < 0.001). Maternal IgG antibody titer ≥ 200 IU/ml at childbirth was also associated to delayed time to negativization in the infant (179 [163;184] days above the threshold vs 125 [96.8;178] days below it; p < 0.001). Specific antibody negativization was irreversible in all patients. Lower anti-Toxoplasma antibody titers detected at birth in the mother-infant-dyad lead to an earlier and irreversible negativization. This information allows for customisation of the infant follow up program and avoids invasive and expensive tests.
Bedside surgery in the newborn infants: survey of the Italian society of pediatric surgery
Italian Journal of Pediatrics - Tập 46 - Trang 1-8 - 2020
This is the report of the first official survey from the Italian Society of Pediatric Surgery (ISPS) to appraise the distribution and organization of bedside surgery in the neonatal intensive care units (NICU) in Italy. A questionnaire requesting general data, staff data and workload data of the centers was developed and sent by means of an online cloud-based software instrument to all Italian pediatric surgery Units. The survey was answered by 34 (65%) out of 52 centers. NICU bedside surgery is reported in 81.8% of the pediatric surgery centers. A lower prevalence of bedside surgical practice in the NICU was reported for Southern Italy and the islands than for Northern Italy and Central Italy (Southern
Are high cumulative doses of erythropoietin neuroprotective in preterm infants? A two year follow-up report
Italian Journal of Pediatrics - Tập 41 Số 1 - 2015
Competitive sport after SARS-CoV-2 infection in children
Italian Journal of Pediatrics - Tập 47 - Trang 1-5 - 2021
With the gradual resumption of sports activities after the lock-down period for coronavirus pandemic, a new problem is emerging: Allow all athletes to be able to return to compete after SARS-CoV-2 infection in total safety. Several protocols have been proposed for healed athletes but all of them have been formulated for the adult population. The aim of the present study is to evaluate the adequacy of Italian practical recommendations for return-to-paly, in order to exclude cardiorespiratory complications due to COVID-19 in children and adolescents. Between April 2020 and January 2021 the Italian Sports Medical Federation formulated cardiorespiratory protocols to be applied to athletes recovered from SARS-CoV-2 infection. The protocols take into account the severity of the infection. Protocols include lung function tests, cardiopulmonary exercise test, echocardiographic evaluation, blood chemistry tests. From September 2020 to February 2021, 45 children and adolescents (aged from 9 to 18 years; male = 26) with previous SARS-CoV-2 infection were evaluated according to the protocols in force for adult. 55.5% of the subjects (N = 25) reported an asymptomatic infection; 44.5% reported a mild symptomatic infection. Results of lung function test have exceeded the limit of 80% of the theoretical value in all patients. The cardiorespiratory capacity of all patients was within normal limits (average value of maximal oxigen uptake 41 ml/kg/min). No arrhythmic events or reduction in the ejection fraction were highlighted. The data obtained showed that, in the pediatric population, mild coronavirus infection does not cause cardiorespiratory complications in the short and medium term. Return to play after Coronavirus infection seems to be safe but it will be necessary to continue with the data analysis in order to modulate and optimize the protocols especially in the pediatric field.
Universal neonatal audiological screening: experience of the University Hospital of Pisa
Italian Journal of Pediatrics - Tập 37 - Trang 1-8 - 2011
The early identification of pre-lingual deafness is necessary to minimize the consequences of hearing impairment on the future communication skills of a baby. According to the most recent international guidelines the deafness diagnosis must occur before the age of three months and the prosthetic-rehabilitative treatment with a traditional hearing aid should start within the first six months. When a Cochlear implant becomes necessary, the treatment should start between the age of 12 months and 18 months. The only way to diagnose the problem early is the implementation of universal neonatal audiological screening programs. Transient evoked otoacoustic emissions (TEOAE) is the most adequate test because it's accurate, economic and of simple execution. Automatic auditory brainstem response (AABR) is necessary to identify patients with auditory neuropathy but it is also important to reduce the number of false-positives.The 20-30% of infant hearing impairment is represented by progressive or late-onset hearing loss (HL) so it's also necessary to establish an audiological follow up program, especially in infants at risk. From November 2005 all neonates born in the University hospital of Pisa undergo newborn hearing screening. From 2008 the screening program follows the guidelines for the execution of the audiological screening in Tuscany which have been formulated by our group according to the 2007 JCIH Position Statement and adaptated to our regional reality by a multidisciplinary effort. From November 2005 to April 2009 8113 neonates born in the Neonatal Unit of Santa Chiara Hospital (Pisa) have undergone newborn hearing screening. 7621 neonates (93.9%) without risk factors executed only the TEOAE test. 492 (6.1%) neonates had audiological risk factors and thus underwent TEOAE and AABR. 84 patients (1,04%) failed both TEOAE and AABR tests. 78 of them underwent further investigations. 44 patients resulted falsepositives (the 0,54% of the screened newborns). 34 neonates (4,2 ‰) had a final diagnosis of hearing impairment. 8 patients (0.99 ‰) had unilateral hearing loss (HL). 26 patients (3,2 ‰) had bilateral hearing impairment. In our screening program the percentage of false-positives was quite low (0.54%) while the incidence of bilateral HL (3.2 ‰) is a little higher than that found in literature reports. In most of our patients premature birth or neonatal suffering represent the main cause of HL.
The promotion of breastfeeding and professional ethics
Italian Journal of Pediatrics - Tập 41 - Trang 1-1 - 2015
Tổng số: 1,502
- 1
- 2
- 3
- 4
- 5
- 6
- 10