0000000000253869
AUTHOR
Giuffre M.
Fetal growth restriction: A growth pattern with fetal, neonatal and long-term consequences
Fetal growth restriction (FGR) or intrauterine growth restriction (IUGR) are the terms used for a fetus which has not attained its full growth potential for gestational age. FGR is a multifactorial syndrome responsible for increased fetal and neonatal morbidity and mortality as well as long term adverse outcomes involving auxological, metabolic, organic and functional domains. Clinicians distinguish early and late onset FGR, in relation to specific fetal anthropometric parameters related to the possible primary etiology and to different patterns of placental and maternal cardiovascular pathologies. Delivery of an early onset FGR or growth impaired newborn with congenital pathology should be…
Una anoressia “infiammatoria”
Crohn's disease (CD) is an inflammatory disease with a chronic relapsing course and a wide spectrum of manifestations that sometimes overlaps the symptoms of other pathologies. The paper describes the case of a girl with anorexia and a following diagnosis of CD.
POSTERIOR FOSSA TUMORS: A CASE REPORT OF ACQUIRED TORTICOLLIS IN CHILDREN
Torticollis is a pathological condition characterized by involuntary flexion of the neck to the affected side and contextually a rotation of the chin in the opposite direction. We present the case of a 7-year-old girl, admitted to the paediatric emergency department complaining of headache, laterocollis rotation, left torticollis and deviation of the head to the right, without history of trauma or systemic illness. Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) brain scans were performed, showing a subtentorial lesion, expanded into the left median and paravermian region, associated with hypertensive hydrocephalus. Histopathological analysis revealed a first-degree astrocytom…
Facio-auricle-vertebral spectrum (Goldenhar's syndrome): Clinical study of 10 pediatric patients
Goldenhar's syndrome - also known as facio-auricolo-vertebral spectrum - is due to a developmental defect of cranio-facial and vertebral structures, and is interpreted as a disruption. Exogenous factors, such as gestational diabetes or ovopathies, have been involved in its aetiology. The pathogenesis of Goldenhar's syndrome seems to be vascular in most of cases, due to the interruption of blood supply to the branchial and vertebral areas during embryonic development. Ten cases of facio-auricolo-vertebral spectrum of different ages are described, in view of a better delineation of its phenotype. This report can contribute to a better knowledge of the phenotype of facio-auricolo-vertebral spe…
Resistance to thyroid hormones. Study of an affected kindred diagnosed at neonatal age
Resistance to thyroid hormones (RTH) is a rare condition of reduced activity of thyroid hormones on peripheral tissues and/or reduced suppression of TSH secretion by thyroid hormones. The disease is characterised by high serum levels of T3, T4, fT3 and fT4, and by unexpectedly normal or high TSH levels. The origin of the resistance has been recognised in a thyroid hormone receptor deficit, whose gene (TRβ) has been mapped on chromosome 3p24.3 and several mutations have been identified. The clinical presentation may vary among a large spectrum from hypo-, to eu-, to hyperthyroidism in different patients, even in the same family. The diagnosis of RTH at birth and in the first months of life i…
The child with overgrowth between clinical variability and genetic heterogeneity
Either in the newborn or in the child overgrowth can be generalized or localized if it is limited to one or more body regions. When overgrowth depends on a metabolic imbalance, or it is constitutional, the excessive growth can be the only clinical sign. In most cases genomic or epigenetic alterations, which affect factors involved in cell proliferation and/or regulation of gene expression (observed also in tumours), are related to overgrowth syndromes, in which excess growth may be associated with dysmorphic features, neuromotor/intellectual disabilities and behavioural disorders. These rare conditions are characterized by clinical and molecular overlap. The paper describes the cases of thr…
Pulmonary hypertension caused by a severe scoliosis
Background. Pulmonary hypertension in childhood is uncommon. It can be idiopathic or secondary to other pathologies (cardiovascular, skeletric,...). Case description. We report on a 9 year old girl suffering from pulmonary hypertension due to severe dorso-lumbar scoliosis. Conclusions. We discuss the etiopathogenetic relationship between scoliosis and pulmonary hypertension, with particular reference to the role of the treatment with Milwaukee's corset in the evolution of the disease.
Human milk is not “merely nutritious”: How its bioactive role can influence child health
Maternal milk represents the best food for the newborn, providing specific physiologic advantages over the other sources of nutrition. It also contains many hundreds to thousands of bioactive molecules that protect against infection (i.e. IgA), inflammation (i.e. 5-methylthioadenosine) and contribute to eliciting strong immune responses in breastfed children (i.e. allergens or viral antigens). Quality and quantity of breast milk components may influence the development of infant body composition in the first years of life; in particular, it has been shown that a different composition of human oligosaccharides (HMOs) in overweight/obese women’s human milk can be correlated with her offspring…
Spontaneous and after stimulation FSH and LH patterns in thalassemic male adolescents
Background. In the last years thalassemic patients gained a good improvement in prognosis and life style. However, short stature and hypogonadism are still frequent endocrine problems in this population. Methods. In a group of eleven thalassemic males (14-18 years old), the spontaneous nocturnal endocrine patterns of LH and FSH and plasma gonadotropins in response to GnRH were studied. The profiles were analyzed using a computer program (PULSAR) to determine the secretion pattern (number and amplitude of peaks) and the area under the curve above the secretion baseline (AUC). The endocrine status was compared with liver fibrosis, iron overload and transfusional regimen. Results. A regular an…
Editorial: Congenital and perinatal infections: How to prevent sequelaes in neonates and children
The current severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) pandemic has overwhelmingly absorbed attention and health resources for 2 years, allowing us to reflect that infections are a permanent health and social problem, causing morbidity and mortality. They require organization, important prevention measures, and containment. This is particularly true in the neonatal age, where infections remain a complex problem with serious consequences.
To investigate cum “granuloma” salis: Chronic granulomatous disease vs Crohn's disease
Chronic granulomatous disease (CGD) is a rare inherited disorder of phagocyte oxidative metabolism that, in addition to infectious complications, is characterized by abnormal inflammatory response leading to the formation of granulomas in multiple tissues both in the presence and absence of microorganisms. Inflammation often involves the gastrointestinal tract and the clinical, laboratory, and histological characteristics are hardly distinguishable from Crohn's disease (CD). CGD is indeed a rare but important differential diagnosis of chronic inflammatory bowel disease (IBD) especially when occurring in early life and its early detection is crucial to improve the prognosis. The paper report…
Osteodysplastic primordial Dwarfism (ODPD): Notes on brain imaging
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Candida Albicans congenital infection in a preterm newborn
Intrauterine infections may be due to a variety of pathogens other than the TORCH groups ones. Although Candida Albicans is frequently isolated within the urogenital tract of pregnant women, the fetal infection is rarely reported. We now report on a 26 weeks preterm baby in whom a Candida infection was diagnosed at birth in relation to gravidic anamnesis and typical micotic manifestations upon the placenta and the umbilical cord. Intensive cares and pharmacological treatment induced a progressive improvement of the clinical course and normalization of the laboratory parameters.
The impact of genetic diseases on neonatal and pediatric care
The impact of genetic diseases on the pediatric population in clinical practice is remarkable and their prevalence has rapidly increased in the last 50 years. A wide diffusion of modern diagnostic techniques has implemented early diagnosis and consequently the precocious start of effective support therapies which have determined an increased survival rate and quality of life. The percentage of genetics anomalies in children hospitalized is really high and amounts to at least 50% of hospital pediatric admissions. Over 5% of stillborn babies, without other known causes, have genetic disorders, and it goes up to 50% in the case of visible malformations.
Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review.
This study was aimed to analyze the commonalities and distinctions of voltage-gated sodium channels, Nav1.2, Nav1.6, in neurodevelopmental disorders. An observational study was performed including two patients with neurodevelopmental disorders. The demographic, electroclinical, genetic, and neuropsychological characteristics were analyzed and compared with each other and then with the subjects carrying the same genetic variants reported in the literature. The clinical features of one of them argued for autism spectrum disorder and developmental delay, the other for intellectual disability, diagnoses confirmed by the neuropsychological assessment. The first patient was a carrier of SCN2A (p.…
Rare sex chromosome aneuploidies in humans: Report of six patients with 48,XXYY, 49,XXXXY, and 48,XXXX karyotypes [5]
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Evaluation of IGF1 and IGFBP3 during diet therapy in patients affected by food allergy with complex nutritional risk
The seric levels of IGF1 and IGFBP3 and their molar ratio, together with clinical and auxological parameters, have been evaluated in 16 patients (8 males and 8 females), of average age of 11.6±8.66 months, who were suffering from complex food allergy and were subjected to a balanced diet whill excluded the "offending" food. The results, compared "with those of a control population of same age and body surface, have showln a significative reduction of IGF1 and an increase of the molar ratio IGFBP3/IGF1. These observations suggest that, in spite of no significative variation of growth in height and weight, an exclusion diet for a food allergy can reduce the biological activity of some hormona…
[Diagnosis in pediatric "allergic" patients].
Background. A clinician who deals with allergic patients needs the help of in vivo and in vitro allergometric tests in order to decide difficult therapeutic choices. Methods. In the section of Clinical Immunology of the Institute of Paediatrics (Palermo University) two allergologic tests, prick and MAST-CIA, have been studied retrospectively, they were performed on patients observed for allergic disorders over 5 years. The aim of this study was to evaluate the diagnostic capacity of these tests "on the field". The study population is made of 459 patients (age range from 6 months to 16 years) affected with asthma, rhinitis, presumably allergic dermatitis, association of asthma and dermatitis…
Discitis in childhood: Integrated neuroradiological imaging in diagnosis and follow-up of one case
Discitis is an inflammatory disease of the intervertebral disc which has usually a benign evolution in childhood. It often recognizes an infectious etiology. Still discussed however is the possibility of a primitive discal involvement (not secondary to a vertebral inflammation) or of a non infectious etiology and the subsequent more correct diagnostic-therapeutic procedures. We report a case of a girl with discitis diagnosed early and treated with antibiotics and orthopedic corset, whose follow-up shows a benign evolution. We underline the importance of modern neuroradiological imaging: in particular, MR plays a major role in the inflammatory diseases of the column, both in diagnosis and in…
Use of intravenous immunoglobulins in Lyell syndrome: Experience of three cases
We present our experience of treatment of the last three cases of Lyell syndrome we have observed. They are three female children, aged between 16 months and 3 years, who showed many features in common with severely burnt patients (large exuding lesions, severe reduction of circulating plasmatic volume, large denuded body surfaces, severe tendency to infections, ...). Therefore, together with the already known scheme of treatment (corticosteroids, correction of hydroelectrolitic balance, antimicrobials), we decided to use intravenous Immunoglobulins (IVIG), which had been already positively used in severely burnt patients. The favorable evolution of the affection in all three cases and the …