Ennio Del Giudice

• Professor
• University of Naples Federico II

Despite difficulties measuring parenting styles, many studies have demonstrated a significant relationship between disruptive children and certain parenting practices. One of the most frequently used scales to measure parenting styles is the Alabama Parenting Questionnaire (APQ). This scale was originally defined based on theoretical dimensions and...

We report an 8-year-old boy with a complex cerebral malformation, intellectual disability, and complex partial seizures. Whole-exome sequencing revealed a yet unreported de novo variant in the PIK3R2 gene that was recently associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome and bilateral perisylvian polymicrogyri...

Charcot-Marie-Tooth (CMT) syndromes are a group of clinically heterogeneous disorders of the peripheral nervous system. Mutations of mitofusin 2 (MFN2) have been recognized to be associated with CMT type 2A (CMT2A). CMT2A is primarily an axonal disorder resulting in motor and sensory neuropathy. We report a male child with psychomotor delay, dysmor...

Twenty-five patients with Niemann Pick disease type C (age range: 7 months to 44 years) were enrolled in an Italian independent multicenter trial and treated with miglustat for periods from 48 to 96 months. Based on the age at onset of neurological manifestations patients’ phenotypes were classified as: adult (n = 6), juvenile (n = 9), late infanti...

The study of medical protocols for monitoring and analyzing the development of children with disabilities is a fundamental research area. A well established curriculum-based assessment is the Carolina Curriculum for Infants and Toddlers with Special Needs (CCITSN) together with the Carolina Curriculum for Preschoolers with Special Needs (CCPSN). Th...

The study of medical protocols for monitoring and analyzing the development of children with disabilities is a fundamental research area. A well established curriculum-based assessment is the Carolina Curriculum for Infants and Toddlers with Special Needs (CCITSN) together with the Carolina Curriculum for Preschoolers with Special Needs (CCPSN). Th...

Background: The Appraisal of Guidelines for Research and Evaluation (AGREE II) tool is a validated questionnaire used to assess the methodological quality of clinical guidelines (CGs). We used the AGREE II tool to assess the development process, the methodological quality, and the quality of reporting of available pediatric CGs for the management...

Objectives: Mechanism underlying the occurrence of Gastroesophageal reflux disease (GERD) in neurologically impaired children (NIC) is poorly understood. We sought to characterize, by Esophageal High Resolution Manometry (EHRM), alterations of esophageal motility associated with GERD in NIC and to compare with a group with a suspicion of GERD and...

Background Oral-facial-digital type 1 syndrome (OFD1; OMIM 311200) belongs to the expanding group of disorders ascribed to ciliary dysfunction. With the aim of contributing to the understanding of the role of primary cilia in the central nervous system (CNS), we performed a thorough characterization of CNS involvement observed in this disorder. Me...

PNPO mutations that had reduced enzyme activity were identified: (i) patients with neonatal onset seizures responding to pyridoxal 5’-phosphate (n = 6); (ii) a patient with infantile spasms (onset 5 months) responsive to pyridoxal 5’-phosphate (n = 1); and (iii) patients with seizures starting under 3 months of age responding to pyridoxine (n = 8)....

Objective The occurrence of celiac disease (CD), electroencephalographic (EEG) abnormalities (with “subtle” seizures or even without any clinical seizures), and neurological disorders has been reported since the 1980s, though there has been no definitive consensus about the possible causal relationship. This topic is further complicated by the occu...

The Carolina Curriculum for Infants and Toddlers with Special Needs (CCITSN) is a well established assessment curriculum-based for early intervention programs, where sequenced items data collection and analysis allow for monitoring, incremental program change, and recognition of areas of relative strength and weakness in children with mild, moderat...

We report on a 21-year old woman with intellectual disability, autistic features, severe obesity, and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome (WHS). Array-CGH analysis showed a 2.89 Mb deletion on chromosome 14q11.2 containing 47 known genes. The most interesting genes included in this deletion are CHD8, a chromodomain helicase D...

Aim Dysphagia is a known complication in Pompe Disease (PD), a severe metabolic myopathy due to alpha-glucosidase deficiency. Enzyme replacement therapy (ERT) with alglucosidase alfa is the only approved therapy for PD. Presently no data are available on the effects of ERT on dysphagia in PD patients. The aim of this work is to evaluate the course...

Acute dystonia is an abrupt event mainly related to toxicity of drugs such as antiemetics, antipsychotics, anti-acids, and, more rarely, tricyclic antidepressants. Use of amitriptyline in metachromatic leukodystrophy (MLD), a lysosomal storage disorder (LSD) due to arylsulfatase A deficiency, is suggested to control neurological pain and irritabili...

Aim: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive congenital malformation syndrome caused by an inborn error of cholesterol biosynthesis. The incidence is around 1:20000-1:70000. SLOS phenotype is very broad: severe phenotypes show exitus in perinatal period while milder phenotypes only show behavioral and learning problems. The pur...

Our study aims at further defining the characteristics of epilepsy in Inherited Metabolic Disorders (IMDs). We reviewed the medical records of 345 patients with IMDs followed at the Metabolic Diseases Unit of our Department of Pediatrics and found the presence of an epileptic syndrome in 45 cases. An overview is given based on various criteria such...

West syndrome or infantile spasms is one of the most frequent epileptic syndromes in the first year of life. The clinical symptoms of infantile spasms are very different than any other type of seizure because of both the absence of paroxysmal motor phenomena (i.e., as in a convulsion) and the lack of significant duration of loss of consciousness (i...

Background: Ataxia-Teleangiectasia (A-T) is a rare neurodegenerative disorder characterized by progressive cerebellar degeneration. Till few years ago only supportive care was available to improve the neurological function in A-T patients. Even though A-T remains an incurable disease, we recently demonstrated a drug dependent amelioration of neuro...

In a recent article [A. Kurcz et al., Phys. Rev. A 81, 063821 (2010)] we predicted an energy concentrating mechanism in composite quantum systems. Its result is a non-zero stationary state photon emission rate even in the absence of external driving. Here we discuss the possible origin of the predicted effect. We attribute it to the presence of a n...

The study of medical protocols for monitoring and analyzing the cognitive development of children with disabilities is a fundamental research area. A well established curriculum- based assessment is the Carolina Curriculum for Infants and Toddlers with Special Needs(CCITSN). Critically, CCITSN does not allow to share and to exchange the experiences...

Haploinsufficiency of a region located distal to 10p14 designated HDR1, is responsible for hypoparathyroidism, sensorineural deafness, and renal anomalies (HDR syndrome). Haploinsufficiency of a more proximal region, located on 10p13-10p14, designated as DGCR2 is associated with congenital heart defects and thymus hypoplasia/aplasia or T cell defec...

A substantial neutron flux generated by plasma excitation at the tungsten cathode of an electrolytic cell with alkaline solution is reported. A method based on a CR-39 nuclear track detector coupled to a boron converter was used to detect the neutrons. This method is insensitive to the strong plasma-generated electromagnetic noise that made inconcl...

In the conceptual framework of Quantum ElectroDynamics (QED) it has been proven that liquid water is made up of two phases : 1) a coherent phase where the electron cloud of water molecules oscillates in phase with a trapped electromagnetic field within extended regions, called Coherence Domains (CD); 2) a non coherent phase formed by a gas-like ens...

Theories of cancer origin are going through a paradigm shift, opening cancer research to new hypotheses. Accumulating evidence from the tissue microenvironment research, from bioenergetics, epigenetics, systems biology and thermodynamics tends to converge in characterising cancer as essentially a genetically non-deterministic disease. Instead, it i...

Theories of cancer origin are going through a paradigm shift, opening cancer research to new hypotheses. Accumulating evidence from the tissue microenvironment research, from bioenergetics, epigenetics, systems biology and thermodynamics tends to converge in characterising cancer as essentially a genetically non-deterministic disease. Instead, it i...

It is shown that the main component of living matter, namely liquid water, is not an ensemble of independent molecules but an ensemble of phase correlated molecules kept in tune by an electromagnetic (e.m) field trapped in the ensemble. This field and the correlated potential govern the interaction among biomolecules suspended in water and are in t...

The emergence of beauty and emotions from matter is discussed in the framework of modern Quantum Physics. The artistic experience is connected with a resonant interaction between subjects and objects, which is made possible by the quantum property of all bodies to fluctuate.

Oxhydroelectric Effect, that is electricity extraction from a water electrolytic solution by twin Pt electrodes, mediated by oxygen molecules, is here reported for the first time in bi-distilled water (electric conductivity of 1.2 microSiemens/cm). The extremely simple components of this experimental system are: two platinum (Pt) wire electrodes, b...

Small supernumerary marker chromosomes (sSMC) occur with a frequency of approximately 0.4 per 1000 newborns and are more frequent in the population with mental retardation and/or with dysmorphic signs. Small supernumerary chromosome rings (sSCR) usually occur as apart of a mosaic karyotype (Liehr et al., 2004). Chromosome 19 supernumerary rings are...

Some bacterial and viral DNA sequences have been found to induce low frequency electromagnetic waves in high aqueous dilutions. This phenomenon appears to be triggered by the ambient electromagnetic background of very low frequency. We discuss this phenomenon in the framework of quantum field theory. A scheme able to account for the observations is...

We present a mechanism of energy concentration in a system composed by an optical cavity and a large number of strongly confined atoms, which cannot be described in the rotating wave approximation. The mechanism consists in the emission of photons through the cavity mirrors even in the absence of external driving.

The region 21q22 is considered crucial for the pathogenesis of both Down syndrome (DS) and the partial monosomy 21q syndrome. Haploinsufficiency of the RUNX-1 gene, mapping at 21q22 is responsible for a platelet disorder and causes predisposition to myelodysplastic syndrome (MDS). We describe a 3-year-old girl with mental retardation, congenital he...

To investigate the electroclinical features and the outcome of patients with typical absences starting before the 3 years of life. We reviewed the clinical data of patients with absences started before 3 years observed over a 15-year period. Mutation analysis of SLC2A1 (GLUT-1) gene was performed when possible. Their clinical features were compared...

Ataxia-telangiectasia (A-T) is a non-curable neurodegenerative disorder, associated with progressive neurological dysfunction, oculocutaneous telangiectasia, immunodeficiency, predisposition to cancer and radiosensitivity. A recent study documented improvement in neurological symptoms after a short-term therapy with betamethasone in patients with A...

In a recent article [A. Kurcz et al., Phys. Rev. A 81, 063821 (2010)] we predicted an energy concentrating mechanism in composite quantum systems. Its result is a non-zero stationary state photon emission rate even in the absence of external driving. Here we discuss the possible origin of the predicted effect. We attribute it to the presence of a n...

It has been reported that the colors perceived behind closed eyes provide an indication of the psychophysical state of a subject. We discuss this phenomenon in the light of recently developed approaches to living organisms, based on the interplay between matter organization, biochemistry and electrodynamics. "When there is no energy, there is no co...

A critical role of the FOX transcription factors in the development of different tissues has been shown. Among these genes, FOXN1 encodes a protein whose alteration is responsible for the Nude/SCID phenotype. Recently, our group reported on a human Nude/SCID fetus, which also had severe neural tube defects, namely anencephaly and spina bifida. This...

Quantum electrodynamics (QED) produces a picture of liquid water as a mixture of a low density coherent phase and an high density non-coherent phase. Consequently, the Archimedes principle prescribes that, within a gravitational field, liquid water should be made up, at surface, mainly of the coherent fraction, which becomes a cage where the gas-li...

Few reports of small interstitial chromosome 11q deletions are reported in the literature and no clear genotype-phenotype correlation has been demonstrated. We describe a five years old boy who was referred to our attention because of the presence of ptosis of the left eyelid, iris coloboma and developmental delay. Clinical examination also reveale...

Liquid water has been recognized long ago to be the matrix of many processes, including life and also rock dynamics. Interactions among biomolecules occur very differently in a non-aqueous system and are unable to produce life. This ability to make living processes possible implies a very peculiar structure of liquid water. According to modern Quan...

The Belousov-Zhabotinsky phenomenon is analyzed in a framework where the dynamics of dissipative structures outlined by Prigogine is implemented through the collective dynamics produced in liquid water by Quantum Electrodynamics, which has received recently some experimental support. A mechanism allowing the appearance of self-produced oscillations...

The aim of this study was to call the attention to the often disregarded message that hypertransaminasemia may be a marker of both liver and muscle diseases by presenting personal case reports and a systematic literature review. Three male children (mean age 5.7 years) were inappropriately addressed, during the last 12 months, to our paediatric liv...

In living systems, water takes part in the dynamics of life, not only because it accounts for 99% of all biomolecules but also because it provides energy to living matter. Water has the ability to achieve an extended form of organization and provide an ensemble of different coherence domains (CDs) that are phase locked, thus maximizing their capaci...

When a high voltage is applied to pure water filling two beakers kept close to each other, a connection forms spontaneously, giving the impression of a floating water bridge. This phenomenon is of special interest, since it comprises a number of phenomena currently tackled in modern water science. The formation and the main properties of this float...

This paper studies composite quantum systems, like atom-cavity systems and coupled optical resonators, in the absence of external driving by resorting to methods from quantum field theory. Going beyond the rotating wave approximation, it is shown that the usually neglected counter-rotating part of the Hamiltonian relates to the entropy operator and...

Ciliopathies are an expanding group of rare conditions characterized by multiorgan involvement, that are caused by mutations in genes encoding for proteins of the primary cilium or its apparatus. Among these genes, CEP290 bears an intriguing allelic spectrum, being commonly mutated in Joubert syndrome and related disorders (JSRD), Meckel syndrome (...

We recently described the neuroimaging and clinical findings in 6 children with cerebellar clefts and proposed that they result from disruptive changes following prenatal cerebellar hemorrhage. We now report an additional series of 9 patients analyzing the clinical and neuroimaging findings. The clefts were located in the left cerebellar hemisphere...

The spontaneous emission of photons from optical cavities and from trapped atoms has been studied extensively in the framework of quantum optics. Theoretical predictions based on the rotating wave approximation (RWA) are in general in very good agreement with experimental findings. However, current experiments aim at combining better and better cav...

Ciliopathies are an expanding group of rare conditions characterized by multiorgan involvement, that are caused by mutations in genes encoding for proteins of the primary cilium or its apparatus. Among these genes, CEP290 bears an intriguing allelic spectrum, being commonly mutated in Joubert syndrome and related disorders (JSRD), Meckel syndrome (...

It is discussed that the electromagnetic potential can cause the emergence of the coherent structures that in view of their coherence, openness and non-linearity, are able to self-organize and form various hierarchical levels of ecosystems. In the meantime the electromagnetic potential is also the physical agent acting as a messenger in these coher...

Ecological modelling has not yet received from basic “hard” sciences, like conventional physics and chemistry, an adequate conceptual support. Mechanistic simulation techniques are very far from achieving a satisfactory understanding of ecosystem dynamics.In this paper we discuss how to build a bridge between basic sciences and ecodynamics, able to...

Living systems cannot be thermal systems, but instead are coherent systems. The dynamic origin of coherence is discussed in the case of electromagnetically coupled particles. Permanent nonvanishing electromagnetic fields are shown to be present but trapped in the coherent systems. The dynamics of enzymes is sketched as an outcome of the coherent el...

Herbert Fröhlich suggested that coherence could be an essential attribute of the dynamics of living matter. The concept of coherence and its expansion provide one of the major roads for introducing modern physics into life sciences. In this article, we show that a system made of an ensemble of metabolically active yeast cells can be a good benchmar...

Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder caused by alterations of the A-T mutated (ATM) gene. Although A-T is a non-curable disease, we, previously, documented a clear improvement of cerebellar functions during a short-term betamethasone trial. The aim of this study was to define the underlying biochemical mechanism. In si...

“Real” liquid aqueous systems general- ly represent complex systems where the phase of polarized water, as recently pro- pounded by Pollack in his description of “exclusion zone” water, contrasts with the coexisting, but much less well organized, bulk water. Polarized water is a potential electron donor (i.e., reducer). Under con- ditions where ele...

The formation of salt marshes (barene) in the Venice Lagoon is discussed in light of recent theories about the emergence of novelties. Namely, the emergent properties and the new formations are related to field quantum coherence domains and to dissipative structures. The boundary conditions, the ontic openness of the ecosystem and the continuous fl...

According to Quantum Electro-Dynamical Theory by G. Preparata, liquid water can be viewed as an equilibrium between of two components: coherent and incoherent ones. The coherent component is contained within spherical so called \coherence domains" (CDs) where all molecules synchronously oscillate with the same phase. CDs are surrounded by the incoh...

We show that in nonlinear systems dynamical order can be reached through the flows of matter, energy, and information, which can be non uniformly spread over the organism due to self-trapping induced by the correlated coherence domains of interfacial water. Endogenous electromagnetic field is self trapped in these domains and forms the dynamical pa...

Water plays a fundamental role in living organisms. Liquid water includes coherence domains (CD) where all molecules oscillate in unison in tune with a self-trapped electromagnetic field at a well-defined frequency. The coherent oscillations produce an ensemble of quasi-free electrons, able to collect noise energy from the environment and transform...

The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis. Patients present the "molar tooth sign", a midbrain-hindbrain malformation pathognomonic for Joubert Syndrome (JS) and Related Disorders (JSRDs). The main feature of COACH is congenital hepati...

We characterise the fluctuations in the observation of the first passage times for the formation of the first nucleus by the variance of the observations. It is shown that the variance is much smaller than that predicted on the basis of the presently accepted approach which has been used to explain nucleation phenomena; this effect is regarded as a...

The first passage times for the formation of the first nucleus of three deposits (alpha-PbO(2), Ag and Hg) on a carbon microelectrocle disk of area = 5 x 10(-7) cm(2) are compared with the models of such processes. It is shown that the interpretation of the data requires LIS to assume that nucleation starts with the formation of incoherent clusters...

It is shown that coherent electrodynamics of water molecules produces extended regions where the chemical activity of bio-molecules is governed in a selective way by a code based on frequency resonance. Coherence Domains of water act as devices able to collect low-grade energy in the environment and to transform it into high-grade energy able to pr...

This book is a summary of selected experimental and theoretical research performed over the last 19 years that gives profound and unambiguous evidence for low energy nuclear reaction (LENR), historically known as cold fusion. In 1989, the subject was announced with great fanfare, to the chagrin of many people in the science community. However, the...

The aim of this paper is to show that the existence of "cold" nuclear fusion in the palladium lattice cannot be just an irrelevant oddity since it derives from the peculiar interplay of electromagnetic and matter fields. Hence its understanding requires the conceptual frame established by Quantum Electrodynamics (QED). Here we sketch a conceptual p...

A 28-month-old child was found to have several clinical features of lysosomal storage diseases, including: coarse facies, hepatosplenomegaly, lumbar kyphosis due to hypoplastic beaked L1 and L2 vertebral bodies, vacuolated lymphocytes in blood smears and rare foamy hystiocytes in bone marrow. However, no signs of neurological or ocular abnormalitie...

Unlabelled: Patterns of childhood gastroesophageal reflux (GER) have been studied extensively; however, the mechanisms underlying its occurrence in neurologically impaired children (NIC) are poorly understood. Concurrent esophageal manometry and pH monitoring was conducted in 10 un-operated children (7 male; mean age: 59.5 months) with sequelae bi...

A recent clinical observation reported on a dramatic improvement of neurological symptoms following short-term betamethasone administration in a child affected with ataxia-teleangiectasia (A-T). The aim of this study was to extend this observation to additional A-T patients followed at a single Immunodeficiency Center. Six consecutive patients (thr...

We study how the mesoscopic/macroscopic stability of coherent extended domains is generated out of the phase locking between gauge field and matter field. The rôle of the radiative gauge field in sustaining the coherent regime is discussed.

We study the effect of the superfluidity of 4He of a superradiant interaction among the 4He-atoms. We show that: i) a microscopic two-fluid picture emerges; ii) the T-dependence of the roton energy Δ(T) is correctly described; iii) the p = 0 fraction of the Bose condensate is ρc 0.15; iv) the observed values of the critical velocity vcrit can be ad...

We report a 3‐y‐old male infant with Prader‐Willi syndrome (PWS) caused by a de novo interstitial deletion of 15q11‐q13. Additional features included a right cerebellar hemisphere hypoplasia. The extent of deletion was determined by FISH analysis using an SNRPN PW/AS probe that maps in the PWS/AS critical region (CR) and with specific 15q BACs. We...

It is shown in the framework of Quantum Field Theory how the dynamics of the phase transition from a gas to a condensed matter could be understood. The case of liquid water is discussed. It is investigated the role of water in the enzyme activity in biological matter.

Pompe disease is a rare autosomal recessive myopathy due to the deficiency of lysosomal acid alpha-glucosidase. Clinical phenotypes range from the severe classic infantile form (hypotonia and hypertrophic cardiomyopathy), to milder late onset forms (skeletal myopathy and absence of significant heart involvement). Enzyme replacement therapy with rec...

Early onset of absence seizures (<3 years) is rare and usually associated with a poor cognitive prognosis. Familial cases have not been reported to date. We observed a family in which two out of three sibs showed early-onset absences and mild mental retardation. Linkage to the ECA1 locus, where one clinical subtype of CAE is mapped, was excluded by...

Children with cerebral palsy (CP) often demonstrate abnormal feeding behaviours, leading to reduced food consumption and malnutrition. Moreover, most of them present with gastrointestinal disorders, such as gastroesophageal reflux disease (GERD) and/or chronic constipation (CC), and poor motor function rehabilitation. The aim of our study was to as...