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2.
J Psychiatr Ment Health Nurs ; 21(3): 234-40, 2014 Apr.
Article in English | MEDLINE | ID: mdl-23552108

ABSTRACT

The aim of this study was to follow up the occurrence of burnout in therapists of children and adolescents with autism experiencing the 2009 earthquake in L'Aquila, and to discuss implications for burnout prevention after disasters. A longitudinal study was carried out, measuring burnout outcomes according to the Maslach Burnout Inventory in 11 exposed and 53 unexposed therapists. Staff in the exposed group appeared to report significantly higher levels of emotional exhaustion after 1 and 2 years of follow-up than the unexposed staff. As to lack of personal accomplishment, the exposed groups shows increasingly lower scores with respect to the unexposed group, with personal accomplishment (PA) values falling from 41.0 [standard deviation (SD) 3.7] to 33.4 (SD 4.1) after 2 years, whereas PA values remain stable over time in the unexposed group. As to depersonalization, data show no significant difference between groups. Burnout occurrence is induced by the exceptional stressors related with natural disasters like earthquakes. Efforts are required to help mental health workers, including psychiatric nurses, to cope with the devastating situation determined by an earthquake. A periodical monitoring of mental health status is recommended in mental health works, especially with regard to help with post-traumatic stress disorder, coping with work and therapeutic relationships, family and social life and economic impact.


Subject(s)
Burnout, Professional/psychology , Child Development Disorders, Pervasive/therapy , Earthquakes , Medical Staff/psychology , Adult , Burnout, Professional/etiology , Disasters , Female , Humans , Italy , Longitudinal Studies , Male
3.
Pneumologie ; 67(3): 141-149, 2013 Mar.
Article in German | MEDLINE | ID: mdl-23463528

ABSTRACT

BACKGROUND: Comparing children's lung function with reference values is important for diagnosing respiratory diseases. The values by Zapletal et al., commonly used nowadays, are not appropriate for the current stage of children's development. We have now developed new reference values and a lower limit of normal (LLN) for children in Germany, divided into small-range age and height categories. MATERIAL AND METHODS: We examined 4- to 18-year-old children in 3 German communities under field conditions. 1943 children were healthy and had a visually acceptable lung function which also fulfilled international quality criteria. We used the regression model LMS, which was introduced by Stanojevic and Quanjer in this context. RESULTS: There were significant differences between the measured lung function and the predicted values according to Zapletal et al. The lung function did not only depend on the child's height, but also in a non-linear way on the age. The variation coefficient did not depend on age. CONCLUSIONS: To avoid diagnostic errors, the currently often used reference values according to Zapletal et al. should no longer be used. The non-linear dependence on age corresponds to the recently published results by Stanojevic and Quanjer.


Subject(s)
Aging/physiology , Body Height/physiology , Models, Biological , Pulmonary Medicine/standards , Spirometry/statistics & numerical data , Spirometry/standards , Tidal Volume/physiology , Adolescent , Age Distribution , Child , Computer Simulation , Diagnosis, Computer-Assisted/methods , Diagnosis, Computer-Assisted/statistics & numerical data , Female , Germany/epidemiology , Humans , Male , Nonlinear Dynamics , Reference Values , Reproducibility of Results , Sensitivity and Specificity , Sex Distribution
4.
Minerva Pediatr ; 63(5): 431-8, 2011 Oct.
Article in Italian | MEDLINE | ID: mdl-21946454

ABSTRACT

The authors describe the case of a child with craniofrontonasal syndrome (CFNS) (MIM 304110), the diagnostic process performed, the identification of the main clinical features in the proband (hypertelorism, facial asimmetry, bifid nasal tip, corpus callosum hypoplasia, broad thumb, curly and wiry hair), and the comparison with known data in literature. They also describe the detection, through gene sequencing of EFNB1, of responsible mutation and its correlation with the phenotypic variants. They explain the etiophatogenetic basis of the "unusual" inheritance pattern of CFNS: X-linked disease that occurs with greater severity in heterozygous females than hemizygous males. Finally, attention is placed on the need for careful genetic counseling for patients with CFNS, with special care in familial anamnesis taking. In the studied case, the presence of abnormalities of thumbs in the proband's mother and in two of her cousins, orientates principally toward a mutation of maternal origin or to a suspected somatic and germline mosaicism by creating a recurrence risk greater than general population. Because patients with CFNS reported in the literature are few, the AA consider that the observed case may help to improve understanding of the mechanisms of gene expression responsible for the syndrome, of its peculiar phenotypic manifestations and of its frequency in the population with known and easy to assign phenotypes, and possible mosaicisms that are difficult to detect.


Subject(s)
Craniofacial Abnormalities/genetics , Craniofacial Abnormalities/diagnosis , Female , Humans , Infant, Newborn , Pedigree , Phenotype
5.
Clin Genet ; 80(5): 452-8, 2011 Nov.
Article in English | MEDLINE | ID: mdl-21070211

ABSTRACT

Krabbe leukodystrophy (KD) is a neurodegenerative lysosomal disorder caused by mutations in the galactocerebrosidase (GALC) gene. Different clinical forms are described based on the age at onset. In reported series, the early infantile form (EIKD) accounts for more than 90% of the cases. The rarer late onset forms (LOKD) become manifest later than 6 months up to the adult age. We report clinical, imaging, mutational analysis and geographic data in a large cohort of individuals with Krabbe disease examined over a 30-year period. Retrospective analyses of disease onset and long-term follow-up were conducted in 26 KD patients. Molecular analysis was performed in 12 patients and their families. Nine cases had EIKD, and 17 LOKD, accounting for two thirds of our series. No correlation was found between enzymatic activity, onset age and disease progression. Despite common geographical origin, only in a few cases could parental consanguinity be proven. The p.Gly41Ser mutation was associated with longer survival. A wide spectrum of LOKD is found despite similar genotype. Although current knowledge about onset age, residual enzyme activity and molecular analysis still fail to allow the identification of patient candidates for treatment, this information is valuable for long-term outcome prediction and could lead to reconsideration of inclusion criteria for bone marrow transplant (BMT) or other future therapeutic approaches.


Subject(s)
Galactosylceramidase/genetics , Leukodystrophy, Globoid Cell/genetics , Adult , Age of Onset , Child , Child, Preschool , Cohort Studies , Consanguinity , Female , Follow-Up Studies , Humans , Infant , Leukodystrophy, Globoid Cell/epidemiology , Male , Mutation , Retrospective Studies , Survival Analysis
6.
Minerva Pediatr ; 61(4): 445-9, 2009 Aug.
Article in Italian | MEDLINE | ID: mdl-19752853

ABSTRACT

Scurvy is a dietary disease due to Vitamin C deficiency. Vitamin C is related to collagen synthesis and metabolism. Malnutrition, problems in bowel absorption, alcoholism and cerebral palsy are clearly often linked with scurvy, even it is no more common in the industrialized countries. Its clinical features are: asthenia, weight loss, appetite decrease, irritability, gingival or mucous lesions, porpora, follicular hyperkeratosis, musculoskeletal pain due to multiple fractures and subperiosteal bleedings, pseudoparalisis (frog-like position of legs) and refuse to walk. Authors report on a nine year-old girl with spastic quadriplegic cerebral palsy, who at the first examination showed deep anemia, fever and multiple epiphyseal separation of the right shoulder and the left knee. Diagnosis of scurvy was been made. The aim of this article was to underline the rarity and gravity of this disease, and its even more frequent appearance in children affected of cerebral palsy. Substitutive therapy consists on ascorbic acid supplementation. Complete restitutio ad integrum of skin-mucous injuries, such as gingival bleedings, was achieved within three months.


Subject(s)
Bone Diseases/etiology , Cerebral Palsy/complications , Epiphyses , Scurvy/complications , Child , Female , Humans
7.
Minerva Pediatr ; 58(1): 63-8, 2006 Feb.
Article in Italian | MEDLINE | ID: mdl-16541008

ABSTRACT

Moyamoya disease is a rare disorder characterised by a progressive occlusion or stenosis of the distal portions of bilateral internal carotid arteries with the development of a network of collateral vessels. Pediatric patients show transient ischemic attacks or strokes; diagnosis is made on the basis of clinical and radiographic findings. The case of a 2-year-old female, which after a Mycoplasma pneumoniae infection presented multiple cerebral strokes is reported. A diagnosis of moyamoya disease was made on the basis of neuroradiological findings; neurological complications due to Mycoplasma infection are reported and the relationship between disease and infection are discussed.


Subject(s)
Moyamoya Disease/complications , Pneumonia, Mycoplasma/complications , Stroke/etiology , Carotid Artery, Internal/pathology , Child, Preschool , Female , Humans , Moyamoya Disease/diagnosis , Moyamoya Disease/therapy , Pneumonia, Mycoplasma/diagnosis , Pneumonia, Mycoplasma/therapy , Stroke/diagnosis , Stroke/microbiology , Stroke/therapy , Treatment Outcome
8.
Minerva Pediatr ; 57(5): 319-23, 2005 Oct.
Article in English | MEDLINE | ID: mdl-16205618

ABSTRACT

Hypophosphatasia is a rare genetic disease characterized by deficiency of tissue-nonspecific alkaline phosphatase (TNSALP) activity, excessive urinary excretion of phosphoethanolamine, poor bone mineralization and skeletal anomalies. The shortage of alkaline phosphatase (ALP) alters the process of mineralization of skeleton causing a reduced transformation of phosphoethanolamine into phosphatidylethanolamine (cerebral phospholipid) with consequent high serum and urinary levels of phosphoethanolamine, a sensitive and highly specific marker for the disease. Four clinical forms have been described based on the age of onset with different courses and prognoses. An unusual case of lethal perinatal hypophosphatasia associated with seizures observed in a newborn admitted to Neonatal Intensive Care Unit of the University of Catania is described.


Subject(s)
Hypophosphatasia/complications , Infant, Premature, Diseases , Seizures/etiology , Chromatography, Ion Exchange , Ethanolamines/blood , Ethanolamines/urine , Humans , Hypophosphatasia/blood , Hypophosphatasia/diagnosis , Hypophosphatasia/mortality , Hypophosphatasia/urine , Infant , Infant, Newborn , Male
9.
Minerva Stomatol ; 53(4): 185-9, 2004 Apr.
Article in Italian | MEDLINE | ID: mdl-15107776

ABSTRACT

Oral-facial-digital syndrome type I (OFDI) is a congenital X-linked dominant disorder characterized by anomalies of the oral cavity, face and digits sometimes associated to cerebral malformations and polycystic kidney disease. The gene, responsible for this syndrome, is ofd1. Clinically it is seen only in females. Lesions of the mouth include median pseudoclefting of the upper lip, clefts of the palate and tongue, and dental anomalies (missing or supernumerary teeth, enamel hypoplasia, and teeth malpositions). Dysmorphic features affecting the head include hypertelorism, frontal bossing, micrognathia, facial asymmetry and broadened nasal ridge. The digital abnormalities are syndactyly, clinodactyly, brachydactyly and, rarely, pre or post-axial polydactyly. Less frequently ex-pressed phenotypic anomalies include skin milia, alopecia, deafness and trembling. Sometimes the diagnosis of OFDI can be difficult because there is an overlap with other types of oral-facial-digital syndromes. A sporadic case of OFDI, with 7 lower incisors, both in the primary and permanent dentition, is reported. This dental anomaly is very unusual because in literature only supernumerary cuspids are reported. In the light of this case, the authors discuss the oral phenotypic expression of ofd1 gene and its role in human odontogenesis.


Subject(s)
Genetic Diseases, X-Linked/pathology , Incisor/abnormalities , Orofaciodigital Syndromes/pathology , Tooth, Supernumerary/etiology , Child , Dentition, Permanent , Female , Genes, Dominant , Genetic Diseases, X-Linked/genetics , Humans , Odontogenesis , Orofaciodigital Syndromes/classification , Orofaciodigital Syndromes/genetics , Phenotype , Proteins/genetics , Proteins/physiology , Tooth, Deciduous
10.
Minerva Pediatr ; 55(6): 615-9, 2003 Dec.
Article in Italian | MEDLINE | ID: mdl-14676733

ABSTRACT

Primary intestinal lymphangiectasia is a rare disorder, characterized by hypoproteinemia due to obstruction of the intestinal lymphatic vessels and loss of lymph fluid in the gastrointestinal tract. The case of a 3-month old patient with protein-losing enteropathy due to a primitive intestinal lymphangiectasia diagnosed with duodenal histology is reported. The adapted formula was replaced by a formula enriched with medium-chain triglycerides (MCT) and the patient presented a clinical and biochemical improvement. The importance of an early diagnosis and the efficacy of treatment with MCT is stressed.


Subject(s)
Lymphangiectasis, Intestinal/diet therapy , Female , Humans , Infant , Lymphangiectasis, Intestinal/diagnosis
11.
Minerva Pediatr ; 54(3): 259-62, 2002 Jun.
Article in English | MEDLINE | ID: mdl-12070486

ABSTRACT

The case of a 13 year-old patient affected by Guillain-Barré syndrome developed after varicella zoster virus infection is reported. Cerebrospinal fluid examination and motor and sensory conduction velocity were consistent with GBS. Antibodies against gangliosides GM1 were present; it is likely that some of these may play an important role in the pathogenesis of syndrome after varicella infection. The therapy was carried out with increasing high-doses of immunoglobulins, with full clinical recovery.


Subject(s)
Guillain-Barre Syndrome/virology , Herpes Zoster/complications , Herpesvirus 3, Human , Adolescent , Humans , Male
12.
Br Dent J ; 190(7): 349-50, 2001 Apr 14.
Article in English | MEDLINE | ID: mdl-11338037

ABSTRACT

In this report we present a subject affected by nevoid basal cell carcinoma syndrome (NBCCS), showing also bilateral mandibular coronoid processes hyperplasia, a hitherto unreported association. Our observation of bilateral hyperplasia of the mandibular coronoid processes in a boy with NBCCS may prompt a retrospective and prospective review of other patients affected by this syndrome in order to establish if this anomaly is part of it.


Subject(s)
Basal Cell Nevus Syndrome/complications , Jaw Abnormalities/complications , Mandible/abnormalities , Maxillary Neoplasms/complications , Adolescent , Humans , Hyperplasia , Jaw Abnormalities/pathology , Male , Range of Motion, Articular
13.
Am J Med Genet ; 95(1): 75-8, 2000 Nov 06.
Article in English | MEDLINE | ID: mdl-11074499

ABSTRACT

Pallister-Killian syndrome, an aneuploidy syndrome, comprises a characteristic facial appearance, mental retardation, and multiple other anomalies. It is caused by mosaicism with a supernumerary isochromosome 12p. This chromosomal abnormality has been reported also in human germ cell tumors. We report on a 15-year-old girl with Pallister-Killian syndrome and pineal tumor.


Subject(s)
Abnormalities, Multiple/genetics , Chromosome Aberrations , Chromosome Disorders , Chromosomes, Human, Pair 12/genetics , Abnormalities, Multiple/pathology , Adolescent , Brain Neoplasms/pathology , Face/abnormalities , Female , Humans , Intellectual Disability/genetics , Isochromosomes , Pineal Gland/pathology , Pinealoma/pathology , Syndrome
14.
Clin Dysmorphol ; 9(4): 289-90, 2000 Oct.
Article in English | MEDLINE | ID: mdl-11045588

ABSTRACT

A case of Varadi-Papp syndrome in a 3-year-old boy whose case has been followed from 8 months of age is described.


Subject(s)
Abnormalities, Multiple/pathology , Polydactyly/pathology , Brain/abnormalities , Child, Preschool , Face/abnormalities , Humans , Infant , Male , Muscle Hypotonia/pathology , Psychomotor Performance , Syndrome
15.
Am J Med Genet ; 94(3): 254-61, 2000 Sep 18.
Article in English | MEDLINE | ID: mdl-10995514

ABSTRACT

We report on a clinical-genetic study of 16 Wolf-Hirschhorn syndrome (WHS) patients. Hemizygosity of 4p16.3 was detected by conventional prometaphase chromosome analysis (11 patients) or by molecular probes on apparently normal chromosomes (4 patients). One patient had normal chromosomes without a detectable molecular deletion within the WHS "critical region." In each deleted patient, the deletion was demonstrated to be terminal by fluorescence in situ hybridization (FISH). The proximal breakpoint of the rearrangement was established by prometaphase chromosome analysis in cases with a visible deletion. It was within the 4p16.1 band in six patients, apparently coincident with the distal half of this band in five patients. The extent of each of the four submicroscopic deletions was established by FISH analyses with a set of overlapping cosmid clones spanning the 4p16.3 region. We found ample variations in both the size of the deletions and the position of the respective breakpoints. The precise definition of the cytogenetic defect permitted an analysis of the genotype-phenotype correlations in WHS, leading to the proposal of a set of minimal diagnostic criteria, which in turn may facilitate the selection of critical patients in the search for the gene(s) responsible for this disorder. We observed that genotype-phenotype correlations in WHS mostly depend on the size of the deletion, a deletion of <3.5 Mb resulting in a mild phenotype, in which malformations are absent. The absence of a detectable molecular deletion is still consistent with a WHS diagnosis. Based on these observations a "minimal" WHS phenotype was inferred, the clinical manifestations of which are restricted to the typical facial appearance, mild mental and growth retardation, and congenital hypotonia.


Subject(s)
Abnormalities, Multiple/genetics , Chromosome Deletion , Chromosomes, Human, Pair 4 , Adolescent , Brain/abnormalities , Child , Child, Preschool , Cosmids , DNA Probes , Developmental Disabilities/genetics , Facies , Female , Gene Deletion , Genotype , Humans , In Situ Hybridization, Fluorescence , Infant , Intellectual Disability/genetics , Karyotyping , Kidney/abnormalities , Male , Models, Genetic , Phenotype , Seizures/genetics , Syndrome
17.
Pediatr Neurol ; 22(1): 64-7, 2000 Jan.
Article in English | MEDLINE | ID: mdl-10669209

ABSTRACT

Sotos syndrome is characterized by peculiar facies, prenatal and postnatal overgrowth, and developmental delay. The course of six patients with psychiatric, neurologic, and magnetic resonance imaging evaluations is reported. Three (50%) of the six patients were observed to have a tendency toward aggressiveness, including one who had pyromania.


Subject(s)
Aggression , Brain/abnormalities , Developmental Disabilities/psychology , Growth Disorders/psychology , Child , Child, Preschool , Developmental Disabilities/diagnosis , Female , Growth Disorders/diagnosis , Humans , Magnetic Resonance Imaging , Male
18.
Minerva Pediatr ; 50(5): 187-92, 1998 May.
Article in Italian | MEDLINE | ID: mdl-9842216

ABSTRACT

Two male patients, four and six years old, affected with monolateral renal artery stenosis are reported. One of them presented recurrent facial nerve palsy, while the other was affected by renal calculosis. The diagnostic suspicion was confirmed by arteriography. They were submitted respectively to aortorenal bypass and nephrectomy, with blood pressure normalization.


Subject(s)
Renal Artery Obstruction/diagnosis , Angiography/methods , Child , Child, Preschool , Fibromuscular Dysplasia/diagnosis , Humans , Hypertension, Renal/diagnosis , Magnetic Resonance Imaging , Male , Tomography, X-Ray Computed
19.
Am J Med Genet ; 80(4): 403-5, 1998 Dec 04.
Article in English | MEDLINE | ID: mdl-9856572

ABSTRACT

We studied a patient with microcephaly, short stature, type B brachydactyly, nail dysplasia, skeletal anomalies, and mental retardation. The mother of the propositus has brachydactyly of thumbs and a similar physiognomy without mental retardation. This appears to be another observation of the Tonoki syndrome, a distinct autosomal dominant or X-linked clinical entity.


Subject(s)
Fingers/abnormalities , Growth Disorders/pathology , Intellectual Disability/pathology , Nails, Malformed , Adolescent , Humans , Male , Syndrome
20.
Pediatr Med Chir ; 20(2): 149-52, 1998.
Article in Italian | MEDLINE | ID: mdl-9706640

ABSTRACT

Melnick-Needles osteodisplasty is a X-linked dominant syndrome characterized by generalized bone dysplasia and abnormal facies. The Authors report on a 13 year old girl affected by severe valgus. At clinical examination the patient showed exophthalmos, full cheeks and micrognathia. Radiological examination revealed sclerosis of the skull base and mastoids, bowed radius and ulna (S-shaped), coxa valga and abnormal vertebral.


Subject(s)
Osteochondrodysplasias/genetics , Adolescent , Facies , Female , Genes, Dominant , Humans , Osteochondrodysplasias/diagnostic imaging , Radiography , Radius/abnormalities , Radius/diagnostic imaging , Skull/abnormalities , Skull/diagnostic imaging , Syndrome , Thoracic Vertebrae/abnormalities , Thoracic Vertebrae/diagnostic imaging , Ulna/abnormalities , Ulna/diagnostic imaging , X Chromosome
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