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1.
Ital J Pediatr ; 47(1): 209, 2021 Oct 18.
Article in English | MEDLINE | ID: mdl-34663397

ABSTRACT

BACKGROUND: The social consequences of COVID-19 pandemic are universally known. In particular, the pediatric population is dealing with a radical lifestyle change. For some risk categories, such as overweight or obese children, the impact of home confinement has been greater than for others. The increased sedentary life, the wrong diet and social distancing have stopped the chance of losing weight. The aims of this study were to analyse the impact of COVID-19 lockdown on the behavior changes in a obese pediatric population and to explore the correlation between the new lifestyle and the level of parental instruction. METHODS: Data show features of 40 obese and overweight pediatric patients of our Clinic in Messina (Italy). We evaluated weight, height, BMI and other biochemical parameters: total cholesterol, HDL, LDL, triglyceride, transaminases, glycemia and insulinemia. After the lockdown, we contacted all patients in order to get some information about diet, physical activity and sedentary lifestyle changes in correlation to the level of their parents' instruction. Additionally, we also evaluated 20 children twice from a clinical and laboratory perspective. RESULTS: The study showed an increase of daily meals during COVID-19 lockdown (3.2 ± 0.4 vs 5 ± 1, P < 0.001). In particular, children whose parents have primary school diploma ate a greater significant number of meals during the lockdown, compared to those who have parents with secondary school diploma (P = 0.0019). In addition, the 95% of patients did low physical activity during the lockdown and the 97.5% spent more time in sedentary activity. Even if BMI's values don't show significant differences, they have increased after the lockdown. We didn't find any correlation between biochemical parameters before and after the lockdown. CONCLUSION: The lockdown has had bad consequences on good style of life's maintenance in overweight and obese children. The absence of a significant correlation between the worsening of biochemical parameters and the lockdown doesn't allow to exclude any long-term consequences. It's safe to assume that, if the hours spent in sedentary activity and the number of meals don't diminish, there will probably repercussion on the biochemical parameters.


Subject(s)
COVID-19/epidemiology , Communicable Disease Control/methods , Exercise/physiology , Life Style , Overweight/epidemiology , Pediatric Obesity/epidemiology , Quarantine/methods , Adolescent , Body Mass Index , Child , Child, Preschool , Comorbidity , Female , Humans , Italy/epidemiology , Male , Pandemics , Pediatric Obesity/physiopathology , Pediatric Obesity/psychology , Retrospective Studies , SARS-CoV-2
3.
Ital J Pediatr ; 44(1): 25, 2018 Feb 17.
Article in English | MEDLINE | ID: mdl-29454373

ABSTRACT

Aim of this commentary is to report current knowledges on the main clinical and metabolic abnormalities which might be observed in children with longstanding and untreated subclinical hypothyroidism (SH) and to comment the most recent views about natural evolution of thyroid function in the cases with either idiopathic or Hashimoto's thyroiditis-related SH. On the basis of these preliminary remarks, the essential guidelines for an appropriate and tailored management of SH children are also proposed.


Subject(s)
Hypothyroidism/diagnosis , Hypothyroidism/drug therapy , Severity of Illness Index , Thyroid Gland/metabolism , Adolescent , Age Factors , Child , Chronic Disease , Clinical Decision-Making , Female , Humans , Hypothyroidism/blood , Male , Prognosis , Risk Assessment , Thyroid Function Tests
4.
Pediatr Med Chir ; 36(4): 91, 2014 Aug 31.
Article in English | MEDLINE | ID: mdl-25573707

ABSTRACT

We describe a case of a 14-years old caucasian female affected by autoimmune hemolytic anemia and thrombocytopenia successfully treated with intravenous immunoglobulin and steroids. Nevertheless, neutropenia occurred during follow-up period. Positivity of direct antiglobulin test and sieric anti-neutrophil antibodies suggested the diagnosis of Evans syndrome trilineage.


Subject(s)
Anemia, Hemolytic, Autoimmune/diagnosis , Immunoglobulins, Intravenous/therapeutic use , Steroids/therapeutic use , Thrombocytopenia/diagnosis , Adolescent , Aftercare , Anemia, Hemolytic, Autoimmune/drug therapy , Antibodies, Antineutrophil Cytoplasmic/analysis , Coombs Test/methods , Female , Humans , Neutropenia/pathology , Thrombocytopenia/drug therapy
5.
Pediatr Med Chir ; 35(5): 228-30, 2013.
Article in Italian | MEDLINE | ID: mdl-24516945

ABSTRACT

A prepubescent 11 year-old girl came to our attention for short stature. Auxological evaluation showed peculiar phenotype. In order to exclude Turner syndrome standard karyotype was performed with normal result. Because of anemia and selective deficiency of the erythroid lineage further investigations were performed and a diagnosis of Blackfan-Diamond anemia was made.


Subject(s)
Anemia, Diamond-Blackfan/diagnosis , Turner Syndrome/diagnosis , Abnormalities, Multiple/etiology , Abnormalities, Multiple/physiopathology , Body Height , Child , Female , Humans , Karyotype
6.
J Endocrinol Invest ; 34(4): 292-5, 2011 Apr.
Article in English | MEDLINE | ID: mdl-20543555

ABSTRACT

BACKGROUND: GH-IGF-I axis is mainly involved in the complex process of somatic growth but emerging evidence suggests that it also influences hypothalamic-pituitary-gonadal (HPG) function. SUBJECTS: We report some data regarding long-term auxological and pubertal outcome of five female patients with hereditary forms of GH-IGF-I deficiency (Laron and GH-gene deletion syndrome) and a mean age of 23.4±5.3 yr (range 19-32). METHODS: All the patients received recombinant human IGF-I (rhIGF-I, Pharmacia and Upjohn, Stockholm, Sweden, and rhIGF-I, Genentech, San Francisco, CA, USA) from a mean age of 8.6 yr (range 3.2-14.2) up to the final height. RESULTS: Final height was very disappointing (≤ -5.0 SD scores) and lower than target height in all the patients. Pubertal onset was delayed in most of them but menarche occurred spontaneously in all the patients. Median age at menarche was 15.1 yr. Menstrual cycles were regular for several years. Median duration of gynecological follow- up was 8.3 yr with the longest span of 17.2 yr. CONCLUSION: We can assert that GH-IGF-I axis has an essential role in promoting linear growth in humans and its physiological action cannot be replaced by pharmacological treatment in most patients with hereditary forms of IGF-I insufficiency as demonstrated by their subnormal final height. Our clinical observations can also support an essential role of IGF-I in genitalia growth but not in the function of HPG axis as demonstrated by the maintenance of regular menstrual cycles in the presence of subnormal levels of IGF-I after treatment discontinuation.


Subject(s)
Human Growth Hormone/genetics , Insulin-Like Growth Factor I/deficiency , Insulin-Like Growth Factor I/therapeutic use , Laron Syndrome/physiopathology , Puberty/physiology , Adolescent , Adult , Child , Child, Preschool , Female , Human Growth Hormone/deficiency , Human Growth Hormone/therapeutic use , Humans , Laron Syndrome/genetics , Menstrual Cycle/physiology , Recombinant Proteins/therapeutic use , Young Adult
7.
J Endocrinol Invest ; 31(1): 79-84, 2008 Jan.
Article in English | MEDLINE | ID: mdl-18296910

ABSTRACT

Subclinical hypothyroidism (SH) is a common clinical problem, particularly in adulthood and the elderly. Its prevalence is conditioned by several etiological and risk factors. The highest age- and sex-specific rates are in women over 60. SH may be associated with manifestations of mild thyroid failure, which may reverse under levothyroxine (L-T4) therapy. The risk of progression to overt hypothyroidism is distinctly higher in cases with underlying thyroid disease. A population routine screening is not generally recommended, but screening is encouraged in high-risk groups. L-T4 therapy may be indicated in subjects with TSH levels which are repeatedly and consistently elevated (>10 microIU/ml) and may be considered in those with TSH ranging between 4.5-5.5 and 10 microIU/ml, particularly if anti-thyroid antibodies are positive and/or hypothyroid symptoms are present. Treatment should be based, at least initially, on L-T4 low doses.


Subject(s)
Hypothyroidism/diagnosis , Hypothyroidism/therapy , Algorithms , Disease Progression , Early Diagnosis , Humans , Hypothyroidism/epidemiology , Hypothyroidism/etiology , Prevalence , Risk Factors , Thyroid Function Tests
9.
J Pediatr Endocrinol Metab ; 20(6): 677-84, 2007 Jun.
Article in English | MEDLINE | ID: mdl-17663292

ABSTRACT

Turner's syndrome (TS) is a chromosomal disorder that results from the loss of the entire or a part of the X-chromosome and occurs in 1/2,500 female births. According to the majority of specific reports, intelligence in TS is generally found to be normal and the prevalence of mental retardation does not seem to be increased in TS except for those patients with a small ring X-chromosome. We evaluated 33 girls with TS with chronological age from 6-18 years. Intellectual assessment included the WISC III and the WAIS-R scales. Our results showed: 1) mean full scale intelligence quotient (FSIQ) was significantly lower than expected based on normative data (p < 0.0005); 2) no correlation was present between height and general intellectual ability; 3) mean performance intelligence quotient (PIQ) was significantly lower than both mean verbal intelligence quotient (VIQ) and FSIQ (p < 0.0025 and p < 0.01, respectively), and most patients had a VIQ-PIQ discrepancy; 4) the frequency of mental retardation in our study group was significantly higher than that observed in the general population (15.1% vs 2.3%, p < 0.025); 5) a significant association was found between karyotype and VIQ, and the best score was achieved in the subgroup of patients with structural abnormalities of the X-chromosome. In the light of these findings we conclude that the clinical picture in TS may encompass a slightly reduced FSIQ, VIQ and especially an inadequate PIQ, but this neurocognitive profile is not significantly affected by statural impairment. Since these neurocognitive defects can be responsible for misdiagnosed school difficulties, we suggest that girls with TS should receive specialized educational support and multidisciplinary care.


Subject(s)
Cognition Disorders/physiopathology , Growth Disorders/physiopathology , Intellectual Disability/physiopathology , Intelligence , Turner Syndrome/physiopathology , Adolescent , Child , Chromosome Aberrations , Cognition Disorders/epidemiology , Cognition Disorders/genetics , Female , Growth Disorders/epidemiology , Growth Disorders/genetics , Humans , Intellectual Disability/epidemiology , Intellectual Disability/genetics , Learning Disabilities/epidemiology , Learning Disabilities/genetics , Learning Disabilities/physiopathology , Mosaicism , Prevalence , Turner Syndrome/epidemiology , Turner Syndrome/genetics
10.
J Endocrinol Invest ; 30(3): 181-5, 2007 Mar.
Article in English | MEDLINE | ID: mdl-17505149

ABSTRACT

The spectrum of mutated alleles in non-classical congenital adrenal hyperplasia (NC-CAH) has been recently reported to be very large and haplotypes may significantly differ in the different ethnic groups. In order to confirm that population differences may exist in the genetic basis of this disease, we have analyzed the genetic presentation of NC-CAH in a Sicilian cohort of symptomatic patients and compared our findings with the ones reported in other studies of different ethnic groups. In 38 NC-CAH patients coming from two regions of Sicily and born of Sicilian parents, we found that 84.2% of the chromosomes examined bore only mild mutations and only the remaining 15.8% of the chromosomes bore at least 1 severe mutation. The overall predominant mutation was V281L, which was detected in 73.7% of alleles and in 89.5% of patients. About 58% of the patients were homozygotes for this mutation. V281L allele and homozygote frequencies were higher in the present series than in other European and Italian reports. In our NC-CAH population, which is one of the largest ever reported, the patients with two mild mutations exhibited a less severe impairment of both clinical and endocrine phenotype. On the basis of these results we can conclude that: a) in Sicilian ethnic groups NC-CAH is frequently associated with a very mild genotype; b) the most frequent genotype in our series is V281L homozygosis; c) clinical and biochemical expression of NC-CAH is more marked in the patients bearing a severe mutation; d) no correlations between genotype and phenotype were found in our patients affected by NC-CAH.


Subject(s)
Adrenal Hyperplasia, Congenital/ethnology , Adrenal Hyperplasia, Congenital/genetics , Adolescent , Adrenal Hyperplasia, Congenital/diagnosis , Child , Female , Gene Frequency/genetics , Genotype , Humans , Male , Mutation , Sicily/ethnology
11.
J Endocrinol Invest ; 29(1): 82-5, 2006 Jan.
Article in English | MEDLINE | ID: mdl-16553039

ABSTRACT

The clinical implications of the association between testicular microlithiasis (TM) and germ cell tumor (GCT) of the testis are still debated since the natural history of incidentally discovered TM has not been defined. Therefore, it is questionable whether TM can be considered as a precursor of malignancy. We are reporting the case of a 9-yr-old boy with a mixed GCT who had presented 3 yr earlier with TM and hydrocele. This evolution suggests that testicular GCT may develop some years later in a boy with pre-existing and incidentally discovered TM. Our case history and other reports of the literature might suggest a strong association between both conditions, thus vindicating the view that individuals with TM should have clinical and ultrasound follow-up. Longitudinal evaluation may be particularly indicated in the patients with additional testicular dysgenetic features, apart from TM.


Subject(s)
Lithiasis/diagnosis , Neoplasms, Germ Cell and Embryonal/diagnosis , Testicular Diseases/diagnosis , Child , Humans , Lithiasis/diagnostic imaging , Lithiasis/pathology , Male , Neoplasms, Germ Cell and Embryonal/diagnostic imaging , Neoplasms, Germ Cell and Embryonal/pathology , Testicular Diseases/diagnostic imaging , Testicular Diseases/pathology , Testicular Neoplasms/diagnosis , Testicular Neoplasms/diagnostic imaging , Testicular Neoplasms/pathology , Ultrasonography
15.
Osp Psichiatr ; 37(1): 5-33, 1969.
Article in Italian | MEDLINE | ID: mdl-5406345

Subject(s)
Hypochondriasis , Humans
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