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1.
Br J Urol ; 81 Suppl 3: 86-9, 1998 May.
Article in English | MEDLINE | ID: mdl-9634027

ABSTRACT

OBJECTIVE: To estimate the prevalence of enuresis in schoolchildren in Italy. SUBJECTS AND METHODS: The Italian Club of Nocturnal Enuresis promoted a prevalence study of nocturnal enuresis using a self-administered questionnaire in seven cities in Northern, Central and Southern Italy. The association between enuresis and potential risk factors, e.g. a family history of enuresis, stress, socio-economic status and abnormal diurnal voiding habits, was investigated. The perceived impact on the child and on the family was also evaluated. A random-cluster sampling scheme was used to obtain a sample of primary and secondary schoolchildren from each city. One primary school and one secondary school for each socio-economic level was sampled in each city, giving a total of 42 schools surveyed; 9086 children were covered by the survey. In a cluster sampling method, the variance of prevalence is divided into two components, binomial and extra-binomial variability. Both the DSM III and DSM IV definitions of enuresis were used because at present, there is no consensus on the diagnostic criteria. RESULTS: Completed questionnaires were received from 7012 children, an overall response rate of 77.2%. Those aged 6-14 years were analysed, restricting the sample to 6892 children. There were 250 enuretic children using the DSM III definition of enuresis and 112 using the DSM IV definition. The overall prevalence was 3.88% and showed a decreasing trend with increasing age. Bedwetting was more frequent in boys than in girls. The prevalence of enuresis was higher when the child was from a family of low socio-economic status despite the child's age group. The logistic analysis showed that familiality, stress, birthweight, age of attaining diurnal continence, soiling and, for girls, menstruation, were statistically significant variables and thus contributed to predicting the probability of bedwetting, confirming the findings of previous studies. There was a large difference in prevalence using the two DSM definitions; a high percentage of DSM III enuretic children had more than two wet nights per week. CONCLUSION: It is important that a consensus about the 'working definitions' of enuresis is reached to avoid bias in the recruitment step, to carry out comparable epidemiological studies and to obtain adequate therapeutic responses.


Subject(s)
Enuresis/epidemiology , Adolescent , Attitude to Health , Child , Enuresis/psychology , Female , Humans , Italy/epidemiology , Male , Parents/psychology , Prevalence , Risk Factors
2.
Minerva Pediatr ; 50(7-8): 339-46, 1998.
Article in Italian | MEDLINE | ID: mdl-9973801

ABSTRACT

BACKGROUND: This study has been designed to assess the protective effect of oxatomide in allergic bronchial asthma of the seasonal type in young children. METHODS: The study was carried out in a paediatric clinic; sixteen children divided into two balanced groups took oxatomide in an oral suspension at the dosage of 1 mg/kg/day, or placebo for a period of 2 months. Eight patients (7 males, 1 female), aged 22 months +/- 2.83 (mean +/- SD) took oxatomide in an oral suspension at the dosage of 1 mg/kg/day, while the other eight (3 males, 5 females; 22.13 months +/- 3.48) took placebo. Efficacy was assessed by monitoring cough, dyspnea at rest, dyspnea following exercise, wheezing, sleep disorders at baseline and after 15, 30 and 60 days of treatment, on the basis of a semiquantitative scale. All side effects were recorded. RESULTS: Persistent coughing was significantly reduced (p < 0.05) after two weeks' treatment with oxatomide. Sleep disorders and other symptoms remarkably improved. Dyspnea at rest and following exercise disappeared after 15 days' therapy, while the intensity of wheezing decreased after 30 days' active treatment. In all parameters examined, oxatomide was significantly more active than placebo at the first examination (p < 0.05 and p < 0.01). Oxatomide was well tolerated and only 2 patients complained of drowsiness which required a reduction in dosage. CONCLUSIONS: Oxatomide, at the dose of 1 mg/kg/day, obtained a good control of respiratory symptoms.


Subject(s)
Anti-Asthmatic Agents/therapeutic use , Asthma/immunology , Piperazines/therapeutic use , Rhinitis, Allergic, Seasonal/immunology , Asthma/drug therapy , Double-Blind Method , Female , Humans , Infant , Male , Placebos , Rhinitis, Allergic, Seasonal/drug therapy
4.
Gut ; 40(2): 215-7, 1997 Feb.
Article in English | MEDLINE | ID: mdl-9071934

ABSTRACT

BACKGROUND: The lactulose/mannitol (L/M) intestinal permeability test is a simple, non-invasive screening test for coeliac disease. The reliability of the L/M test has so far only been tested in selected groups of patients with coeliac disease. AIM: To evaluate the reliability of the L/M test in a group of patients with coeliac disease who had been diagnosed during mass serological screening of the general population. PATIENTS AND METHODS: Twenty nine patients with coeliac disease detected by screening and 54 age matched coeliac disease free controls aged 11-15 years underwent an L/M test with 5 g lactulose and 2 g mannitol in isotonic aqueous solution. Urinary sugars were measured by high performance liquid chromatography. RESULTS: The median % urinary recovery of lactulose (lactulose UR) was significantly higher in patients with coeliac disease than in controls (0.63 v 0.18, p < 0.001). The mean mannitol % UR was lower in patients with coeliac disease than in controls (17.6 v 18.5) but the difference was not significant. The median urinary L%/M% ratio was significantly higher in patients with coeliac disease than in controls (0.038 v 0.014, p < 0.001). However, 16 of the 29 patients with coeliac disease showed an L%/M% ratio within normal limits (< 0.044). CONCLUSIONS: The L/M intestinal permeability test is not a valuable tool for screening of coeliac disease in the general population. The pattern of the urinary probe recovery suggests that many patients with coeliac disease could remain symptomless because the extent of their intestinal mucosal damage is small ("short" coeliac disease).


Subject(s)
Celiac Disease/diagnosis , Intestinal Absorption , Lactulose , Mannitol , Adolescent , Celiac Disease/urine , Child , Female , Humans , Lactulose/urine , Male , Mannitol/urine , Predictive Value of Tests , Reproducibility of Results
5.
Minerva Pediatr ; 49(10): 471-5, 1997 Oct.
Article in English | MEDLINE | ID: mdl-9557492

ABSTRACT

BACKGROUND: Monosaccharide, lactose and oligosaccharide content of milk from mothers delivering prematurely (PT milk) was studied to evaluate whether changes occur during lactation, as observed in milk from mothers delivering at term (T milk). METHODS: To study a homogeneous population, women having the most common phenotype (secretory both Lewis and A, B, or H phenotype) were selected. Milk samples from 26 mothers who delivered between the 27th and 35th week of gestation were collected at the 4th, 10th, and 30th post-partum days. Monosaccharides, lactose and oligosaccharides were measured by high-pressure liquid chromatography. RESULTS: Lactose concentration increased significantly (p < 0.05) from 52.81 +/- 8.2 g/L on day 4 to 69.24 +/- 9.36 g/L on day 30. During the same period of time oligosaccharide content decreased significantly (p < 0.05) from 25.61 +/- 5.19 g/L to 15.83 +/- 6.05 g/L. Monosaccharides did not show statistically significant variations. CONCLUSIONS: Our results indicate that PT milk contains in addition to lactose, a substantial amount of oligosaccharides and a lower percentage of monosaccharides. Compared to T milk, in the colostral phase PT milk presents significantly lower lactose concentration (p < 0.0001); on the contrary its oligosaccharide content is significantly higher (p < 0.0001). The physiological role of human milk carbohydrates in view of the peculiar needs of the preterm newborn is also discussed.


Subject(s)
Infant, Premature , Lactose/analysis , Milk, Human/chemistry , Monosaccharides/analysis , Oligosaccharides/analysis , Female , Humans , Infant, Newborn , Obstetric Labor, Premature , Pregnancy , Time Factors
6.
Minerva Urol Nefrol ; 48(2): 97-101, 1996 Jun.
Article in Italian | MEDLINE | ID: mdl-8815561

ABSTRACT

Percutaneous renal biopsies were performed on native kidneys in 40 children and adolescent, aged 1.7-13 (mean 6.7) years. Bleeding diatheses were excluded by the determination of Hb, blood platelets, PT, PTI and fibrinogen. Biopsies were performed under ultrasound imaging, using a semiautomated and thin needle (20 gauge in children with age under 5 years and 18 gauge for those over 5 years). All the patients were lightly sedated, except for 3 ones who received a general anesthesia. Diagnostically adequate tissue was retrieved in 38 of 40 biopsy procedures (95%). A macro-haematuria was observed with elimination of haematic coagula in 3 children (7.5%) and 24-h post-biopsy ultrasonography disciosed a small haematoma of the biopsied kidney in 2 one (5%). No mayor complications occurred. We conclude that the use of ultrasound imaging and a semiautomated needle is a safe and efficient method for performing renal biopsies in paediatric patients. The use of smaller (18 or 20-gauge) cutting needles would reduce the complications rate while allowing retrieval of sufficient tissue for histologic diagnosis.


Subject(s)
Biopsy, Needle , Kidney Diseases/pathology , Adolescent , Biopsy, Needle/methods , Child , Child, Preschool , Humans , Infant , Microscopy, Electron
7.
Acta Paediatr Suppl ; 412: 29-35, 1996 May.
Article in English | MEDLINE | ID: mdl-8783752

ABSTRACT

BACKGROUND: Recent studies suggest that coeliac disease (CD) is one of the commonest, life-long disorders in Italy. The aims of this multicentre work were: (a) to establish the prevalence of CD on a nationwide basis; and (b) to characterize the CD clinical spectrum in Italy. PATIENTS AND METHODS: Fifteen centres screened 17,201 students aged 6-15 years (68.6% of the eligible population) by the combined determination of serum IgG- and IgA-antigliadin antibody (AGA) test; 1289 (7.5%) were IgG and/or IgA-AGA positive and were recalled for the second-level investigation; 111 of them met the criteria for the intestinal biopsy: IgA-AGA positivity and/or AEA positivity or IgG-AGA positivity plus serum IgA deficiency. RESULTS: Intestinal biopsy was performed on 98 of the 111 subjects. CD was diagnosed in 82 subjects (75 biopsy proven, 7 not biopsied but with associated AGA and AEA positivity). Most of the screening-detected coeliac patients showed low-grade intensity illness often associated with decreased psychophysical well-being. There were two AEA negative cases with associated CD and IgA deficiency. The prevalence of undiagnosed CD was 4.77 x 1000 (95% CI 3.79-5.91), 1 in 210 subjects. The overall prevalence of CD, including known CD cases, was 5.44 x 1000 (95% CI 4.57-6.44), 1 in 184 subjects. The ratio of known to undiagnosed CD cases was 1 in 7. CONCLUSIONS: These findings confirm that, in Italy, CD is one of the most common chronic disorders showing a wide and heterogeneous clinical spectrum. Most CD cases remain undiagnosed unless actively searched.


Subject(s)
Celiac Disease/diagnosis , Mass Screening/methods , Adolescent , Antibodies/blood , Antibodies/immunology , Autoimmunity , Biomarkers/blood , Celiac Disease/complications , Celiac Disease/epidemiology , Celiac Disease/immunology , Child , Female , Follow-Up Studies , Gliadin/immunology , HLA-D Antigens/genetics , Humans , Immunoglobulin A/blood , Immunoglobulin A/immunology , Immunoglobulin G/blood , Immunoglobulin G/immunology , Italy , Male , Prevalence , Sensitivity and Specificity , Serologic Tests/methods
8.
Acta Paediatr Suppl ; 412: 65-7, 1996 May.
Article in English | MEDLINE | ID: mdl-8783764

ABSTRACT

In 1992-94 we screened 6315 students for coeliac disease (CD) by testing antigliadin antibodies (AGA) as the first-level investigation. We found 28 biopsy-proven coeliac patients who were invited to start the gluten-free diet (GFD). The aim of this study was a clinical and laboratory follow-up in these screening-detected coeliac adolescents. Patients were 17 females and 11 males with a mean age at diagnosis of 12.8 +/- 1 years (range 11-4). Mean follow-up duration time was 23 +/- 7 months (range 9-37). Twenty-three of the 28 screening-detected coeliac patients came to the control visit, 3 refused the follow-up and 2 subjects were not found. Twelve patients (52.2%) stated that they never ate any gluten-containing food, while 11 of them (47.8%) reported occasional transgressions to the diet. GFD acceptance was reported as good (n = 6), moderate (n = 11) or low (n = 6). After starting the GFD, signs of improvement were seen in most patients, such as weight gain, increased height velocity and increased feeling of well-being. AGA (both IgG and IgA classes) and antiendomysium antibodies (AEA) were normal in 19 subjects, 2 cases had IgG-AGA and AEA positivity, 1 patient showed abnormal AGA and AEA levels, while isolated IgA-AGA positivity persisted in 1 case. This study shows that even silent CD cases can clinically benefit from the GFD. The consequences of occasional transgressions to the GFD remain unclear.


Subject(s)
Celiac Disease/diet therapy , Glutens/administration & dosage , Patient Compliance , Adolescent , Biomarkers/blood , Celiac Disease/physiopathology , Celiac Disease/psychology , Child , Female , Follow-Up Studies , Glutens/immunology , Humans , Male , Mass Screening/statistics & numerical data , Serologic Tests/statistics & numerical data , Treatment Outcome
9.
Pediatr Med Chir ; 18(3): 269-73, 1996.
Article in Italian | MEDLINE | ID: mdl-8966127

ABSTRACT

So far, Ménétrier's disease has been thought to be an uncommon disorder in children. It is characterized by hypertrophic gastritis, protein-losing enteropathy, hypoproteinemia and edema. During childhood, the main features of this condition include an abrupt onset and a spontaneous recovery. In this paper we describe three children, aging between 3 months and 3 years, who presented with protracted vomiting, generalized edema, colitis (one case) and elevated serum aminotransferases (one case). The diagnosis of Ménétrier's disease was made by finding the typical endoscopic and histological picture of the gastric mucosa (two cases) or by the radiological findings (one case). The fecal alpha-1-antitrypsin excretion, which is a marker of the protein-losing enteropathy, was high in all patients. Two cases showed evidences for a primary CMV infection as the possible cause of Ménétrier's disease, due to the presence of cytomegalic inclusions in the gastric mucosa and the IgM class anti-CMV antibodies positivity. All 3 cases, who received only a support treatment (plasma and albumin intravenous infusions), completely recovered in a 2-3 weeks time. In conclusion, it is confirmed that in children a protein-losing gastroenteropathy may be caused by a primary infection with CMV.


Subject(s)
Gastritis, Hypertrophic/diagnosis , Protein-Losing Enteropathies/diagnosis , Biopsy , Child, Preschool , Cytomegalovirus , Cytomegalovirus Infections/complications , Cytomegalovirus Infections/virology , Gastric Mucosa/pathology , Gastritis, Hypertrophic/etiology , Gastritis, Hypertrophic/pathology , Humans , Inclusion Bodies, Viral/pathology , Infant , Male , Protein-Losing Enteropathies/etiology , Protein-Losing Enteropathies/pathology
10.
Minerva Pediatr ; 48(4): 143-7, 1996 Apr.
Article in English | MEDLINE | ID: mdl-8766964

ABSTRACT

Normal standards are required in order to evaluate minimal morphological changes in CNS disorders in childhood. We therefore investigated several morphometric parameters (white matter evaluation, ventricular and periencephalic liquoral spaces, septocaudate distance, Evans index, morphological evaluation of corpus callosum, Chamberlain line) in 52 non-neurological subjects by cerebral MRI.


Subject(s)
Brain/physiology , Magnetic Resonance Imaging , Adolescent , Child , Child, Preschool , Corpus Callosum/anatomy & histology , Corpus Callosum/physiology , Humans , Infant , Infant, Newborn
11.
Article in English | MEDLINE | ID: mdl-8727267

ABSTRACT

One thousand eighty-five children with atopic dermatitis were enrolled in a multicenter study to evaluate the efficacy of 4 weeks of oral sodium cromoglycate or 4 weeks of a restricted diet. One thousand-eleven children (93%) concluded the study. At the end of the trial there was a significant improvement in skin lesions in the two groups: 61% of the patients in the sodium cromoglycate group and 69% in the restricted diet showed a significant improvement in atopic dermatitis. We concluded that, at least in our experimental design, both sodium cromoglycate and a restricted diet are equally effective in atopic dermatitis.


Subject(s)
Antigens/immunology , Cromolyn Sodium/administration & dosage , Cromolyn Sodium/therapeutic use , Dermatitis, Atopic/drug therapy , Dermatitis, Atopic/immunology , Diet , Food Hypersensitivity/immunology , Administration, Oral , Adolescent , Child , Child, Preschool , Food Hypersensitivity/prevention & control , Humans , Infant
12.
Biol Cell ; 86(2-3): 135-7, 1996.
Article in English | MEDLINE | ID: mdl-8893503

ABSTRACT

Plasma membrane fluidity of platelets (PLT) obtained from subjects with primary nocturnal enuresis (PNE) and healthy controls was investigated before and after addition of desmopressin (DDAVP). Membrane fluidity was studied by measuring steady-state fluorescence anisotropy of 1-(4-trimethylammoniumphenyl)-6-phenyl-1,3, 5-hexatriene incorporated into PLT plasma membrane. Our results show an increase in membrane fluidity at the surface level of PLT from subjects with PNE. Moreover, the addition of DDAVP induces a stable and significant decrease of membrane fluidity in both groups. These results suggest alterations of the lipid order in the exterior part of the PLT plasma membrane from patients with PNE.


Subject(s)
Blood Platelets/drug effects , Cell Membrane/drug effects , Deamino Arginine Vasopressin/pharmacology , Enuresis/physiopathology , Renal Agents/pharmacology , Adolescent , Adult , Anisotropy , Blood Platelets/metabolism , Blood Platelets/ultrastructure , Cell Membrane/metabolism , Child , Cholesterol/blood , Diphenylhexatriene/analogs & derivatives , Enuresis/metabolism , Female , Fluorescent Dyes , Humans , Male , Membrane Fluidity/drug effects , Membrane Fluidity/physiology , Phospholipids/blood , Triglycerides/blood
13.
J Pediatr Gastroenterol Nutr ; 21(4): 383-6, 1995 Nov.
Article in English | MEDLINE | ID: mdl-8583288

ABSTRACT

The aim of the study was to investigate the effect of age and feeding pattern on intestinal permeability during the first month of life. The subjects were 72 full-term, healthy neonates who were (a) exclusively breast-fed (BF group, n = 36) or (b) artificially fed (CM group, n = 36) with either an adapted formula (AF group, n = 17) or a partly hydrolyzed (hypoantigenic) formula (HA group, n = 19). A lactulose/mannitol (lac/man) intestinal permeability test was performed at 1 and 7 days (steady-state method, n = 72), then at 30 days of life (single oral load, n = 47). Urinary lactulose and mannitol were measured by HPLC. The mean lac/man urinary ratio dropped from 1.27 +/- 0.73 (day 1) to 0.34 +/- 0.36 at day 7 and to 0.22 +/- 0.21 at day 30. At 7 days BF infants showed a significantly lower lac/man urinary ratio (0.22 +/- 0.25) than the CM group (0.47 +/- 0.41). The human neonate shows a developmental pattern of sugar intestinal permeability that resembles gut closure observed in other mammals. Intestinal permeability decreases faster in breast-fed babies than in those fed with adapted or HA formulas.


Subject(s)
Breast Feeding , Infant Food , Infant Nutritional Physiological Phenomena , Intestines/physiology , Chromatography, High Pressure Liquid , Humans , Infant, Newborn , Intestines/growth & development , Lactulose/urine , Mannitol/urine , Permeability , Reference Values
14.
Minerva Pediatr ; 47(10): 427-31, 1995 Oct.
Article in English | MEDLINE | ID: mdl-8569644

ABSTRACT

Changes in time course of blood partial pressures of oxygen (PtcO2) and carbon dioxide (PtcCO2) before, during and after challenge with ultrasonically nebulized distilled water (UNDW) were evaluated in 22 children with mild asthma in basal conditions, and after 8 weeks of therapy with inhaled nedocromil sodium at a daily dosage of 8 or 16 mg. PtcO2 and PtcCO2 were followed using transcutaneous O2 and CO2 monitoring system. All asthmatic subjects presented a significant decrease in PtcO2 and/or PtcCO2 (> 20% basal value) during or after challenge. After therapy, the decrease in PtcO2 and PtcCO2 was normalized in the group treated with 16 mg/day, whereas only a partial yet significant reduction in the decrease of O2 and CO2 was observed in the group assuming 8 mg/-day. These data indicate that inhaled nedocromil is effective in treating bronchial hyperresponsiveness in childhood and that the dose required to achieve this effect is of 16 mg/day.


Subject(s)
Anti-Asthmatic Agents/administration & dosage , Asthma/drug therapy , Bronchial Hyperreactivity/drug therapy , Bronchial Provocation Tests , Carbon Dioxide/blood , Nedocromil/administration & dosage , Oxygen/blood , Administration, Inhalation , Child , Follow-Up Studies , Humans , Time Factors , Ultrasonics , Water
15.
Acta Astronaut ; 37: 379-83, 1995 Oct.
Article in English | MEDLINE | ID: mdl-11541108

ABSTRACT

An anthropometric mannequin implemented in robotic modelling software has proved very useful in the simulation of static and semi-dynamic reachability envelopes. Its prediction of working postures has been verified to some extent during neutral buoyancy trials. While a robotic solution is useful for static analyses or rough estimates of simple movements, more realistic movement strategies need to be identified directly measuring astronauts' in-orbit behaviour. A set of experiments is to be performed as part of the EUROMIR '95 mission to the MIR orbiting station in which dynamic posture (i.e. posture and movement) measurements will be taken using the ELITE system. The data and analyses of the data will be used to animate the Alenia anthropometric mannequin and to develop movement algorithms more similar to those of a person in microgravity than the robotic solutions currently employed. This paper presents the experiments to be performed and the changes to Alenia's mannequin that will allow the model to effect movements according to the experimental results. It is aimed at expanding the dialog between the biomechanical and human factors disciplines started in this experiment to other potential end-users of the experimental results.


Subject(s)
Computer Simulation , Models, Anatomic , Posture/physiology , Robotics , Software , Weightlessness , Adaptation, Physiological , Algorithms , Anthropometry , Ergonomics , Evaluation Studies as Topic , Humans , Movement/physiology , Space Flight , Spacecraft
16.
Acta Paediatr ; 84(6): 672-6, 1995 Jun.
Article in English | MEDLINE | ID: mdl-7670254

ABSTRACT

Many cases of coeliac disease are currently undiagnosed. We carried out a pilot study on screening for coeliac disease in a school population. The screening protocol consisted of three parts: (1) IgG and IgA antigliadin antibody (AGA) assay; (2) antiendomysium antibody and total serum IgA determinations; (3) jejunal biopsy. A total of 5280 students aged 11-15 years (71.7% of the eligible population) underwent the first evaluation; 113 subjects performed the second tests and 35 of these needed the third investigation. Coeliac disease was diagnosed in 23 cases, most of which were atypical or silent forms. The prevalence of undiagnosed coeliac disease was 4.36 per 1000 screened subjects (95% CI 2.58-6.14) and 5.03 per 1000 (95% CI 3.41-6.65) in the general population. The ratio of known to undiagnosed cases was 1 to 6.4. This high prevalence of undiagnosed coeliac disease raises a number of problems that require further evaluation.


Subject(s)
Antibodies/analysis , Celiac Disease/diagnosis , Celiac Disease/epidemiology , Gliadin/immunology , Adolescent , Celiac Disease/immunology , Child , Female , Humans , Immunoglobulin A/analysis , Immunoglobulin G/analysis , Italy/epidemiology , Male , Mass Screening , Pilot Projects , Prevalence , Students
17.
Pediatr Med Chir ; 17(3): 227-35, 1995.
Article in English | MEDLINE | ID: mdl-7567644

ABSTRACT

A patient with Hunter syndrome, or mucopolysaccharidosis type II (MPS-osis II), was subjected to bone marrow transplantation (BMT), at the age of 2 9/12 years. A two-year follow-up ensued to the purpose of comparing clinical, biochemical, neuropsychologic status pre- and post-BMT. From the clinical standpoint, a complete normalization of hepatosplenomegaly was observed. In addition the skin decreased in thickness and joint mobility improved. The echocardiography showed normalization of left ventricle size. With the exception of verbal capabilities, there was no further deterioration of the neuropsychologic profile. The ultrastructural examination of the liver showed an almost total disappearance of storage material. Normal iduronate sulfatase levels in leukocytes and lymphoblasts were constantly found after BMT. A qualitative and quantitative improvement in urinary glycosaminoglycan (GAG) excretion was also found. The effectiveness of the BMT in our patient is also assessed in the context of the few cases of MPS-osis II that have been reported to date. A final evaluation of the efficacy of BMT in MPS-osis II will be possible only when a higher number of patients, diagnosed as early as possible and transplanted within the first months of life, can be followed-up for more extended periods of time.


Subject(s)
Bone Marrow Transplantation , Mucopolysaccharidosis II/therapy , Biopsy, Needle , Bone Marrow Transplantation/methods , Child, Preschool , Follow-Up Studies , Glycosaminoglycans/urine , Humans , Italy , Liver/pathology , Male , Mucopolysaccharidosis II/diagnosis , Mucopolysaccharidosis II/metabolism , Mucopolysaccharidosis II/pathology
18.
Minerva Pediatr ; 47(4): 107-10, 1995 Apr.
Article in Italian | MEDLINE | ID: mdl-7643807

ABSTRACT

The aim of this study is the biometrical and morphological evaluation of the ovaries by sonography and the study of the haemodynamics of the ovarian artery flow by doppler ultrasound in 14 girls with precocious puberty and in 33 control subjects. All people ranged in age from 5 to 7 years. The gonadian mean volume and the mean pulsatility index have been evaluated. A significant difference in the ovarian volume has been found between patients and controls. No index between the two groups. We conclude that the doppler ultrasound needs a larger number of cases to evaluate its validity in girls with precocious puberty.


Subject(s)
Puberty, Precocious/diagnosis , Ultrasonography, Doppler, Pulsed , Ultrasonography, Doppler , Adolescent , Child , Child, Preschool , Female , Hemodynamics , Humans , Ovary/diagnostic imaging
20.
Minerva Pediatr ; 46(4): 153-5, 1994 Apr.
Article in English | MEDLINE | ID: mdl-8084322

ABSTRACT

A report is given of a newborn girl with situs inversus and Turner syndrome that presented respiratory distress. The patient had a mosaic karyotype 45,X/46,X + mar (80%/20%). Ciliary motion analysis demonstrated a total absence of ciliary motion whereas, ultrastructural studies revealed typical features of primary ciliary dyskinesia (PCD) (absence or short outer/inner dynein arms in 90% of the cilia). We regard this rare combination (PCD, situs inversus and Turner syndrome) as a coincidental occurrence.


Subject(s)
Ciliary Motility Disorders/complications , Respiratory Distress Syndrome, Newborn/etiology , Situs Inversus/complications , Turner Syndrome/complications , Chromosome Aberrations , Chromosome Disorders , Ciliary Motility Disorders/genetics , Female , HLA-DR Antigens , Haplotypes , Humans , Infant, Newborn , Karyotyping , Radiography , Respiratory Distress Syndrome, Newborn/diagnostic imaging , Situs Inversus/genetics , Turner Syndrome/genetics , X Chromosome
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