187 research outputs found
Cardiorespiratory fitness: a comparison between children with renal transplantation and children with congenital solitary functioning kidney
Children with end-stage renal disease are known to have a cardiorespiratory fitness significantly reduced. This isconsidered to be an independent index predictive of mortality mainly due to cardiovascular accidents. The effectsof renal transplantation on cardiorespiratory fitness are incompletely known. We compared the maximal oxygenuptake (VO2 max) of children with a functioning renal transplant with that of children with congenital solitaryfunctioning kidney, taking into consideration also the amount of weekly sport activity
Ataxia in children: early recognition and clinical evaluation
Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance. It is mainly caused by dysfunction of the complex circuitry connecting the basal ganglia, cerebellum and cerebral cortex.
A careful history, physical examination and some characteristic maneuvers are useful for the diagnosis of ataxia. Some of the causes of ataxia point toward a benign course, but some cases of ataxia can be severe and particularly frightening.
Methods: Here, we describe the primary clinical ways of detecting ataxia, a sign not easily recognizable in children. We also report on the main disorders that cause ataxia in children.
Results: The causal events are distinguished and reported according to the course of the disorder: acute, intermittent, chronic-non-progressive and chronic-progressive.
Conclusions: Molecular research in the field of ataxia in children is rapidly expanding; on the contrary no similar results have been attained in the field of the treatment since most of the congenital forms remain fully untreatable. Rapid recognition and clinical evaluation of ataxia in children remains of great relevance for therapeutic results and prognostic counseling
Transverse cervical megapophysis as an uncommon cause of torticollis
Congenital abnormalities of the spine are not uncommon in the general population and can be asymptomatic. Transverse megapophysis is a congenital anomaly manifested as an enlargement of the transverse processes, typically common in the lumbar vertebrae. Here, we describe a 4-month-old infant female with episodes of shooting pain and torticollis. At the beginning of the third month, the parents noticed she held her neck inclined towards the left side in a changeable way, and movement caused discomfort and crying. Muscular tonus, laboratory investigations, ECG and heart and transfontanellar ultrasound were normal. A cervical CT and MRI displayed at the C7 level a megapophysis transverse involving both sides. Treatment with no steroidal anti-inflammatory drugs twice a day and, after a few days, symptoms solved. At 8 months follow-up, neck maintains its natural position and no unmotivated pain has been noticed. Transverse C7 megapophysis presenting with torticollis is an example of a cause of severe pain in infancy, and it should be considered in the differential diagnosis of infantile torticollis. Keywords: Transverse cervical megapophysis, Torticollis, Bertolotti syndrom
Ventilation, oxidative stress and risk of brain injury in preterm newborn
Preterm infants have an increased risk of cognitive and behavioral deficits and cerebral palsy compared to term born babies. Especially before 32 weeks of gestation, infants may require respiratory support, but at the same time, ventilation is known to induce oxidative stress, increasing the risk of brain injury. Ventilation may cause brain damage through two pathways: localized cerebral inflammatory response and hemodynamic instability. During ventilation, the most important causes of pro-inflammatory cytokine release are oxygen toxicity, barotrauma and volutrauma. The purpose of this review was to analyze the mechanism of ventilation-induced lung injury (VILI) and the relationship between brain injury and VILI in order to provide the safest possible respiratory support to a premature baby. As gentle ventilation from the delivery room is needed to reduce VILI, it is recommended to start ventilation with 21-30% oxygen, prefer a non-invasive respiratory approach and, if mechanical ventilation is required, prefer low Positive End-Expiratory Pressure and tidal volume
Neurophysiological monitoring in neonatal abstinence syndrome from cocaine
Introduction. Neonatal abstinence syndrome (NAS) in a newborn is a result of the
sudden discontinuation of exposure to psychotropic drugs abused by the mother during
pregnancy. Since forty decades, the standardized Finnegan Neonatal Abstinence Scoring
Tool (FNAST) documents the infant withdrawal, and initiate the appropriate treatment
regimen, when elevated scored are reported. Whereas FNAST is successfully applied for
opioids NAS, in case of other psychotropic drugs and especially cocaine, the tool is not
always efficacious or predictive.
Methods. Continuous v-Electroencephalography (vEEG) provides particularly useful
information about brain cortical functioning and evaluation of background activity in
normal newborns. vEEG allows to properly study and identify clinical manifestations
as physiological motor paroxysms, that disappear from birth to infant age in correlation
with the neurological development. Due to its feature to be a non-invasive tool continuous
vEEG monitoring could be used to describe some clinical manifestations and assess
if they can be correlated to possible injuries in critical neonates as those exposed in utero
to psychoactive drugs presenting NAS.
Results. An example for the potential use of such methodology is discussed in a case
of NAS due to prenatal exposure to cocaine as a complementary tool for the evaluation
of behavioural state and clinical and neurological signs in newborns in utero exposed to
psychoactive drugs, excluding epileptic phenomena.
Discussion. Video-EEG recording could be considered an important and objective tool
that allows the evaluation of behavioural state and clinical and neurological signs in newborns
in utero exposed to psychoactive drugs and the neurophysiological definition of
signs and symptoms, which cannot be evaluated by FNAST such as startles and its variability
during subsequent days after birth, subclinical seizures or brain injuries
Incidence of Mediterranean Spotted Fever in Sicilian children: a clinical-epidemiological observational retrospective study from 1987 to 2010
Background: Zoonoses are human infectious diseases caused by pathogens that primarily infect animals. Mediterranean Spotted Fever (MSF) represents one such example, affecting the Mediterranean region, in which household animals can be immune-carriers of infected ticks.
Materials and methods: We retrospectively analysed the incidence and the clinical and laboratory features of MSF caused by R.Conorii in children admitted to the Paediatric Operative Unit from 1987 to 2010, for persistent fever and generalised macular-popular erythematous lesions.
Clinical, immunological and serological parameters of 55 cases of Rickettsia infections observed in children between 2 and 11 years of age were collected.
Results: We found an increasing incidence of MSF in childhood from 1987 to 2010. Diagnosis of MSF at the moment of hospital admission was done in 16 patients (29.09%). The presence of the typical Tache noire was observed in 16 cases out of 55 patients (29.09% of cases).
We noticed a different representation of R. conorii antigens in serological testing over the time period of the study, corresponding to overall higher incidence rates for infection in the latter years. We also observed a higher incidence of infection in those years in which all four antigens were found positive at serum testing with respect to those years in which only two of the four antigens were observed (1987-1990: 0-16%; 2007-2010: 0.46%; P<0.005).
Conclusions: These changes in R. conorii antigenicity may be the cause of higher pathogenicity in this parasite, perhaps linked to increased immigration along with consequent changes in the epidemiology of infectious diseases in host countries
Acute Glomerulonephritis in a Child with Chlamydia pneumoniae Infection: A Case Report.
Background. Infectious diseases seem to be an important and independent risk factor for renal failure, but the underlying mechanism of renal involvement during some kinds of infectious diseases is still unclear, even if the literature data report immunomediated and/or autoimmune mechanisms to explain the pathogenic relationship between the two diseases. In paediatric patients, Chlamydia pneumoniae is a rare cause of renal complications and it may manifest in several ways, mainly involving the respiratory system, even if also renal and glomerulalr complications, have been described. Case Diagnosis/Treatment. Herein we report a case of a 3-year-old child who developed an acute glomerulonephritis that was chronologically, clinically, and biologically related to a previous Chlamydia pneumoniae infection. On our knowledge, in the literature it is the youngest patient with renal involvement during course of Chlamydia pneumoniae infection ever reported. Conclusions. The present case supports the hypothesis of a rather close causal relationship between this infective agent and renal and glomerular symptoms occurred in this child, during an acute episode of respiratory disease
Cervical neurenteric cyst and Klippel-Feil syndrome: An abrupt onset of myelopathic signs in a young patient
Neurenteric cysts (NECs), also called enterogenous cysts or enterogenic cysts, are congenital malformative anomalies of endodermal origin that manifest with a variety of disorders, including spine anomalies. Neurenteric cysts are uncommon developmental disorders reported in 0.7%–1.3% of all spinal tumors. Klippel-Feil syndrome (KFS) defines a malformative spine disorder presenting with congenital fusion of cervical vertebrae and/or other parts of the spine. In patients with KFS, NECs are rarely reported; they may be silent for long periods of time, showing a slow progressive course or manifesting with an acute, severe neurological presentation or with fluctuating myelopathic symptoms. We report a young patient affected by KFS associated with a NEC which, in a short period of time, progressively caused myelopathic symptomatology. Surgical intervention resulted in resolution of the neurological signs. Keywords: Neurenteric cyst, Klippel-Feil syndrome, Intramedullary cys
Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures
Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. A set of intronic deletions of CNTNAP2 gene has also been suggested to have a causative role in individuals with a wide phenotypic spectrum, including Pitt-Hopkins syndrome, cortical dysplasia-focal epilepsy syndrome, Tourette syndrome, language dysfunction, and abnormal behavioral manifestations. Case presentation: A 10-years-old boy was referred to the hospital with mild intellectual disability and language impairment. Moreover, the child exhibited minor facial features, epileptic seizures, and notable behavioral abnormalities including impulsivity, aggressivity, and hyperactivity suggestive of the diagnosis of disruptive, impulse-control and conduct disorder (CD). Array comparative genomic hybridization (CGH) revealed a copy number variant (CNV) deletion in the first intron of CNTNAP2 gene inherited from a healthy father. Conclusions: A comprehensive description of the phenotypic features of the child is provided, revealing a distinct and remarkable alteration of social behavior not previously reported in individuals affected by disorders related to CNTNAP2 gene disruptions. A possible causative link between the deletion of a non-coding regulatory region and the symptoms presented by the boy has been advanced
Hopkins’ syndrome
Hopkins’ syndrome is a rare disease that affects the anterior horn of the spinal cord after an acute episode of asthma in children with atopic disease. A viral infection or immunological suppression in atopic subjects might be the cause of occurrence of this syndrome, although the mechanism due to the etiopathogenesis of the disease still remains unknown.In general, this disease is manifested by a few days to a few weeks after an acute asthma attack, with flaccid paralysis of one or more limbs and in some cases residual muscle atrophy. The response to corticosteroid therapy is good and rare the possibility of recurrence
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