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Biomedical subjects

R Lorini

Publications and source records attributed to R Lorini.

At least 55 records · Page 3Linked to original sources

Cardiovascular reflex changes preceding episodes of vasovagal syncope in paediatric subjects.

1. The cardiovascular reflex changes preceding episodes of vasovagal syncope (VVS) in paediatric age were investigated in 12 subjects and in 20 controls, supine and upright, by spectral analysis of RR interval, respiration, systolic and diastolic blood pressure. 2. The sympatho-vagal control on the heart and blood pressure was assessed by the power of the low- (LF: index of sympathetic activity) and high-frequency oscillations (index of vagal activity to the heart). 3. In VVS group the supine blood pressure was lower than in controls and fell after tilt, while remained unchanged in controls. The blood pressure LF increased in control group during early and prolonged orthostasis, whereas in the VVS group the LF tended to decrease after early orthostasis and were not significantly greater than supine before VVS. 4. In the VVS group the sympathetic control of blood pressure appears reduced or ineffective, and progressively worsens before the VVS episode.

Adolescent↗

Clinical aspects of coeliac disease in children with insulin-dependent diabetes mellitus.

Coeliac disease (CD) is heterogeneous in its clinical presentation and pathological expression. Silent, latent and potential forms represent the submerged part of the so-called "coeliac iceberg". The association of insulin-dependent diabetes mellitus (IDDM) and CD has been widely reported. For the screening of CD in diabetic patients, anti-reticulin R1 (ARA-R1) and anti-endomysium (AEA) antibodies are more reliable markers than anti-gliadin (AGA) antibodies. Recent studies have reported an increased prevalence of CD in children with IDDM. In our experience intestinal biopsy confirmed a diagnosis of CD in 6 out of 172 diabetic patients, with a prevalence of 3.5%. Only occasionally does CD precede the onset of IDDM; more often CD is diagnosed shortly or sometimes years after the onset of diabetes. Typical gastrointestinal complaints of CD (such as diarrhoea, abdominal distension) are rare in IDDM patients, while atypical isolated signs or symptoms of CD are more common, in particular sideropenic anemia, short stature, delayed puberty, epilepsy, hypertransaminasemia, dyspeptic symptoms, herpetiform dermatitis, and recurrent aphthous stomatitis. It is recommended that all diabetic children, even those asymptomatic, should be screened yearly for CD, using a combination of AGA plus ARA-R1 and AEA.

Adolescent↗

IDDM and autoimmune thyroid disease in the pediatric age group.

Diabetic patients have increased chances of developing autoimmune thyroid disease. Thyroid autoantibodies (Th-AAb) are more frequent in IDDM children than in the general population, ranging between 7 and 40%. As markers of thyroid autoimmunity, we assessed Th-AAb (MsA and TgA) cross-sectionally in 212 children and adolescents (93 girls and 119 boys) aged 1.2-21 years with IDDM from 0-18 years, and longitudinally in 90/212 (43 girls and 47 boys) at diagnosis and during a 3-10 year follow-up. In the cross-sectional study Th-AAb were found in 22/93 girls (23.7%) and 13/119 boys (10.9%). In the longitudinal study Th-AAb were observed at diagnosis in 6 patients, and during the follow-up in 9 girls. In 11/15 Th-AAb positive patients anti-nuclear antibodies were also present. Hormonal assessment revealed hypothyroidism in 3 girls (afterwards on replacement therapy), thyroid ultrasonography showed abnormal patterns in 5 girls, fine needle aspiration biopsy confirmed Hashimoto's thyroiditis in 9 (8 girls and 1 boy), with a higher frequency than that reported among healthy subjects (1-2%). Thyrotoxicosis also occurs with increased frequency in diabetic children than in the general population. We observed Graves' disease in only 1/212 IDDM patients, a 13 year-old boy in whom thyrotoxicosis developed 4 years after diabetes was diagnosed. The high prevalence of thyroid autoimmunity in our patients, particularly in females, suggests that diabetic children and adolescents should be screened for thyroid autoimmunity even if asymptomatic for hypo- or hyperthyroidism. Patients with IDDM and autoimmune thyroid disease should be evaluated for autoantibodies against other organs, such as adrenal glands and gastric mucosa. It is known that patients affected by type 1 (insulin-dependent) diabetes mellitus (IDDM) may have autoantibodies against different organs, such as thyroid, adrenal glands, gastric mucosa, parathyroid, with or without evident dysfunction of the target organ /1-8/. Among organ-specific disorders, autoimmune thyroid disease (ATD) is frequently associated with IDDM and the presence of thyroid autoantibodies (Th-AAb) has been considered a risk factor for the development of hypo- or hyperthyroidism /9/.

Adolescent↗

Autoimmune hypothyroidism and hyperthyroidism in patients with Turner's syndrome.

A high prevalence of autoimmune thyroid disease (AITD) has been described in Turner's syndrome (TS) but the extent of this association is controversial for the prevalence of thyroid autoantibody and the clinical impact of thyroid dysfunction. In this study we searched for thyroid disease and thyroid autoantibodies in patients with TS. Seventy-five unselected TS patients (age range 3-30 years) were studied. Sera were tested for thyroid hormones, thyrotropin (TSH), thyroglobulin (TG-ab) and thyroperoxidase (TPO-ab) antibodies. The TSH-receptor antibodies with thyroid-stimulating (TS-ab) or TSH-blocking activity (TSHB-ab) were measured in the IgG fraction using a bioassay. Ten out of 75 (13.3%) TS patients had AITD: eight had autoimmune thyroiditis (AT) (six with subclinical and two with overt hypothyroidism and one with euthyroidism) and one had Graves' disease. The prevalence of AITD increased significantly (p < 0.05) from the first (15%) to the third (30%) decade of life. The prevalence of TPO-ab and/or TG-ab (20%) was higher (p < 0.05) in TS than in age-matched female controls and increased from the first (15%) to the third (30%) decade of life. Clinical AITD was diagnosed in 46% of TS patients with TPO-ab and/or TG-ab. Thyroid-stimulating antibody was detected in the hyperthyroid patient, and TSHB-ab was found in one of eight patients with hypothyroid AT. It was concluded that: TS patients are at higher than average risk of developing AITD not only in adolescence and adult age but also in childhood; hypothyroidism, mainly subclinical, is the most frequent thyroid dysfunction; elevated TPO-ab and/or TG-ab alone do not imply thyroid dysfunction; TS-ab or TSHB-ab are always associated with thyroid dysfunction although most cases of autoimmune hypothyroidism are not due to the latter antibody.

Adolescent↗

Anticardiolipin antibodies in children and adolescents with insulin-dependent diabetes mellitus.

UNLABELLED: Anticardiolipin antibodies were determined in 29 diabetic children and adolescents, aged 3.9-26.8 years, with disease duration from 1 month to 19 years. Anti-islet cell antibodies (ICA-IgG and CF-ICA), anti-insulin antibodies (IAA), antithyroid antibodies and non organ-specific (NOSA) antibodies were also determined. Patients were grouped according to insulin-dependent diabetes mellitus (IDDM) duration: group I (n = 11) < 6 months, and group II (n = 18) > 5 years. Eleven of group II patients showed precocious signs of micro-angiopathic complications. Forty-two age- and sex-matched healthy subjects served as controls. IgG and IgM anticardiolipin antibodies were evaluated by ELISA and their results expressed as arbitrary units (AU). IgG anticardiolipin antibodies were found in 7 patients (24%), while IgM anticardiolipin antibodies were absent in all. IgG anticardiolipin antibodies were more frequent in IDDM patients than in controls (P < 0.005) and group I (in 6 out of 11 patients; 54.5%) than in group II (in 1 out of 18 patients; 5.5%) (P < 0.025). In five out of six group I patients with IgG anticardiolipin antibodies, ICA-IgG and/or CF-ICA were also found. No correlation was observed between anticardiolipin and other auto-antibodies, micro-angiopathic complications, and HLA typing. CONCLUSION: Anticardiolipin antibodies may reflect an abnormal immunological response in the early stage of diabetes mellitus and represent a transient auto-immune phenomenon.

Adolescent↗

Organ- and non-organ-specific auto-antibodies in children with hypopituitarism on growth hormone therapy.

UNLABELLED: Serum non-organ-specific antibodies (NOSA) against nuclear, mitochondrial (AMA), smooth muscle, liver/kidney microsomal (LKM), reticulin, ribosomal, and organ-specific antibodies (OSA) against pituitary gland, gonads (testis, ovary) adrenal cortex, thyroid (thyroglobulin and microsomal), pancreas islet cells, gastric parietal cells and intestinal epithelial cells were evaluated in 45 patients with hypopituitarism (mean age 12.4 +/- 4.0 years). In 22 of them, 9 with isolated growth hormone (GH) deficiency (IGHD) and 13 with multiple pituitary hormone deficiency, MRI showed anterior pituitary hypoplasia with structural stalk abnormality and ectopic posterior pituitary. Twelve had isolated small anterior pituitary and IGHD and 11 had normal morphology of pituitary gland and IGHD. Controls were healthy age-sex-matched subjects. Thyroid antibodies were detected by a passive haemagglutination test while indirect immunofluorescence was used for the others. The auto-antibodies were found in 7/45 asymptomatic patients, a frequency not significantly different from that in controls; 5 were type NOSA and 2 type OSA. Pituitary antibodies were positive in 1 girl with IGHD and normal pituitary morphology. One girl developed hyperthyroidism during the follow up. Autoantibodies were equally distributed between the three groups and the frequency was not dissimilar from that in controls; this suggests that these patients are not at a higher risk of developing auto-immune disease, at least during the first two decades. CONCLUSION: Pituitary insufficiency in children with different MRI features seems unlikely to be secondary to an auto-immune process.

Adolescent↗

Central motor conduction time in children and adolescents with insulin-dependent diabetes mellitus (IDDM).

Measurement of central motor conduction time (CMCT) after percutaneous magnetic stimulation of the brain is an electrophysiological method that may discover subclinical impairment of central nervous system (CNS). In order to detect an impairment of CNS, we measured CMCT right (R) and left (L) after percutaneous stimulation of the brain in 34 patients affected by insulin-dependent diabetes mellitus (IDDM) (16 males and 18 females), aged 16.4 +/- 4.1 years (7.3-23.2 years), with duration of disease 7.6 +/- 4.9 years (7/12-16 years), and HbA1c annual mean 7.41 +/- 1.1% (n.v. 5.14 +/- 0.84%). Twenty-three sex- and age-matched healthy subjects served as controls. In our IDDM patients we observed a delay of CMCT R (P < 0.0005) and L (P < 0.0005) as compared to controls. No correlation was found between CMCT (R and L) and chronologic age, duration of disease, peroneal motor nerve conduction velocity. No association was observed between CMCT (R and L) and HLA antigens. On the basis of IDDM duration, patients were divided into 2 groups (G): G I (9 pts) with IDDM < 2 years and G II (25 pts) with IDDM > 5 years, 12 of them with precocious signs of one or more microangiopathic complications. No difference in CMCT (R and L) was observed between the 2 groups and between G I and controls; G II patients had a longer delay of CMCT R (P < 0.0001) and L (P < 0.0001) than controls. In G II patients, a positive correlation between CMCT R and HbA1c of the 5 years before the test (P < 0.025) was also observed.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

Increased urinary N-acetyl-beta-glucosaminidase (NAG) excretion in young insulin-dependent diabetic patients.

We evaluated urinary N-acetyl-beta-glucosaminidase (NAG) excretion in overnight and in second morning urine in 50 young diabetic patients, aged 7.4-25 years with a disease duration from 2-19.6 years. In all patients we evaluated urinary NAG and creatinine excretion, in both overnight and second morning urine, glycosuria, fasting blood glucose and HbA1c levels, insulin requirement, blood pressure, and the presence of microangiopathic complications. Urinary NAG excretion was also evaluated in 69 age- and sex-matched controls. NAG was determined using 3-cresolsulfonphtaleinyl-beta-N-acetylglucosaminide as substrate (Boehringer Mannheim, Germany). In the diabetic patients NAG/Cre ratios were significantly higher than in controls both in overnight and second morning urine (P < 0.0005, respectively). We observed significantly higher NAG/Cre ratio levels in the second morning than in overnight urine, both in controls and in diabetics (P < 0.0005, respectively). Elevated (above 2 S.D. of the mean) NAG/Cre ratios were found in 17/50 patients (34%) in overnight urine and in 29/50 (58%) in second morning urine. No correlation was observed between NAG/Cre ratio levels and age, duration of disease, pubertal stage, body mass index, fasting blood glucose, glycosuria, insulin requirement and blood pressure. The patients with one or more complications did show NAG/Cre ratio levels significantly higher than those without complications (P < 0.005) in second morning urine, but not in overnight urine. Our study has demonstrated an increased rate of urinary NAG excretion in young IDDM patients, in particular in those with microangiopathic complications.

Acetylglucosaminidase↗

Low serum levels of tumor necrosis factor-alpha in insulin-dependent diabetic children.

We measured serum levels of tumor necrosis factor-alpha (TNF-alpha) in 48 children with insulin-dependent diabetes mellitus (IDDM), divided into two groups according to disease duration (group I < 6 months and group II > 3 years): group I 15 patients, aged 2.2-13.7 years, and group II 33 patients, aged 4.5-25.5 years. Thirty-six age- and sex-matched healthy subjects served as controls. TNF-alpha levels were measured by immunoradiometric assay. We found that TNF-alpha levels were lower in all IDDM patients (29.65 +/- 3.83 pg/ml) than in controls (74.74 +/- 10.17 pg/ml) (p < 0.0001), as well as in group I (24.07 +/- 3.65 pg/ml) and group II (32.16 +/- 5.29 pg/ml) as compared to controls (p < 0.001). TNF-alpha levels were significantly lower in patients with antibodies than in those without antibodies and in controls. Similar results were found in longstanding IDDM patients. No correlation was found between serum TNF-alpha and chronologic age, duration of disease, metabolic control, insulin requirement and HLA typing. During a 1-year follow-up study in 12 group I patients no significant variations in TNF-alpha levels were observed. It has been reported that the administration of exogenous TNF suppresses the development of diabetes in nonobese diabetic mice, low producers of endogenous TNF. The results suggest that aberrant TNF-alpha synthesis may contribute to immune dysregulation thus favoring the development of autoimmune diseases.

Adolescent↗

IDDM in the province of Pavia, Italy, from a population-based registry.A descriptive study.

OBJECTIVE: To report the incidence of insulin-dependent diabetes mellitus (IDDM) in the Province of Pavia, Italy, in the 0- to 29-year-old age-group between 1988 and 1992. Urban versus rural residence, socioeconomic level, and family size of IDDM cases were also investigated. RESEARCH DESIGN AND METHODS: A prospective register was established in 1988 to collect all newly diagnosed IDDM patients with onset before 30 years of age. The primary data source was based on notification of new cases by hospitals, out-patient clinics, family doctors, and pediatricians. The secondary and independent data source consisted of the registries of prescriptions for insulin syringes in the health districts of the province. RESULTS: In 5 years (1988-1992), 66 cases of IDDM in the 0- to 29-year-old age-group were identified. The completeness of ascertainment was 100% for the combined sources. Age-adjusted (world-standardized) incidence rates per 100,000 (95% confidence interval) were 9.52 (6.42-13.61), 6.72 (4.68-9.34), and 8.27 (6.42-10.58), respectively, for the age-groups 0-14, 15-29, and 0-29. The rates were higher for residents in urban areas. The number of children in the families of IDDM patients was significantly higher than in the reference population. CONCLUSIONS: Our data indicate the concordance of IDDM incidence rates with the North-Italian rates and a possible association of the disease with environmental factors. These factors might enhance the susceptibility to IDDM in genetically predisposed individuals.

Adolescent↗

Hyperinsulinemia in children and adolescents after bone marrow transplantation.

We report 34 patients (aged 5-18 years) with acute (n = 26) or chronic (n = 1) leukemia, non-Hodgkin's lymphoma (n = 3) or severe aplastic anemia (n = 4) evaluated for pancreatic beta-cell function 9 months to 10.2 years after autologous (n = 19) or allogeneic (n = 15) BMT. Before BMT, all patients received cytotoxic drugs, combined with total body irradiation (TBI) in 24 cases or thoracoabdominal irradiation (TAI) in 4 children. Patients were investigated for fasting blood glucose (FBG), HbA1C, anti-insulin (IAA) and islet cell antibodies (ICA), first-phase insulin response (FPIR) and insulinemia/glycemia (I/G) ratio on i.v. glucose tolerance test (GTT) and C-peptide response after glucagon 1 mg i.v. Results were compared with those obtained in 21 age- and sex-matched controls. None of the patients or controls had IAA and/or ICA. FBG and HbA1C were normal in all children. In the patients, glycemia on i.v. GTT was similar to controls whereas insulin levels I/G ratio and FPIR were significantly higher in patients than in controls, as well as C-peptide levels. We divided the patients on the basis of the radiotherapy into group I with TBI (n = 18), group II with TAI (n = 4) and group III who were not irradiated (n = 4). The I/G ratio, FPIR on i.v. GTT and C-peptide response were significantly higher in group I compared with the other two groups and controls. The increased insulin and C-peptide levels in our patients with normal glycemia might be interpreted as a state of insulin resistance, more evident in patients who received TBL.

Adolescent↗

Precocious signs of polycystic ovaries in obese girls.

As several studies have reported that 35% of patients with polycystic ovary syndrome are obese and that this syndrome seems to originate during the early phase of sexual maturation, we undertook a study of such subjects. We studied ultrasound and hormonal findings in 49 obese girls aged from 7.9 to 19.10 years, with a mean excess weight of 44%; 23 premenarcheal girls and 26 postmenarcheal girls with mean gynecological age of 2.5 years. As controls, we studied 18 girls in the pubertal phase and 17 healthy girls with regular menses, matched for age and gynecological age. Pelvic ultrasonography was carried out in all girls and estrone, estradiol, progesterone, prolactin, follicle stimulating hormone, luteinizing hormone, sex hormone binding globulin (SHBG), testosterone, free testosterone, dehydroepiandrosterone (DHEA), dehydroepiandrosterone sulfate (DHEA-S), androstenedione and 17-hydroxyprogesterone (17-OHP) were measured by radioimmunoassay in 11 of the 18 postmenarcheal girls. Five girls (10.2%) with excess weight of > 40% presented with mild or severe hirsutism based on Ferriman and Gallway scores; six (12.2%) presented with acne and 14 (28.5%) presented with acanthosis nigricans.Hormonal evaluation showed elevated levels of estrone (p < 0.005) and testosterone (p < 0.01) but lower than normal levels of SHBG (p < 0.05) and estradiol (p <0.05). On the basis of our results, 23%) of the postmenarcheal obese subjects showed clinical, hormonal and ultrasonographic signs of polycystic ovaries, and 23% of postmenarcheal obese girls showed multifollicular ovaries. Six of these, at 1 year after menarche, showed a uterine cross-sectional area larger than normal for gynecological age (21.92 +/- 5.64 cm(2) vs. 16.36 +/- 2.34 cm(2)). Further serial echographic studies and a careful follow-up will demonstrate if both multifollicular ovaries and increased uterine cross-sectional area in obese girls are precocious signs of polycystic ovaries.

Journal Article↗

Final height attainment in girls and boys with insulin-dependent diabetes mellitus.

We compared final height to height at diagnosis (expressed as a standard deviation score, SDS), predicted adult height (according to the Bayley and Pinneau method) and target genetic height (expressed as mean parental height in cm, +6.5 for males and -6.5 for females) in 37 patients (15 males, 22 females) with insulin-dependent diabetes mellitus (IDDM), aged 20.6 +/- 3.3 years (16.6-27), with 11.8 +/- 3.7 years (5.2-19.2) mean duration of disease. In the 22 females, final height (162.4 +/- 5.7 cm; range, 150-174 cm) was higher than predicted (161.5 +/- 7.8 cm; range, 146-176.2 cm) and target genetic height (159.7 +/- 3.8 cm; range, 152.8-167.3 cm), although not significantly. Female patients showed a positive correlation between final height and both predicted (P < 0.05) and target genetic height (P < 0.005). No difference was observed in final height between patients diagnosed in the prepubertal or pubertal phase (162.2 +/- 4.6 cm vs. 163.4 +/- 6.2 cm; P-value n.s.). In the 15 males, final height (173.4 +/- 4.4 cm; range, 166.5-181 cm), lower than predicted (175.4 +/- 4.9 cm; range, 166-183 cm), was higher than target genetic height (169.9 +/- 4.8 cm; range, 162.4-177 cm) (P < 0.05). Male patients showed a positive correlation between final height and target genetic height (P < 0.05). No difference was found in final height between patients diagnosed in the prepubertal or pubertal phase (173.6 +/- 3.5 cm vs. 172.7 +/- 5.5 cm; P-value n.s.).(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

Cytotoxic activity in children with insulin-dependent diabetes mellitus.

We determined the percentage of circulating natural killer (NK) cells, using the monoclonal antibodies anti-CD57 and anti-CD16, NK cytotoxic activity (lytic units/10(6)) and lymphokine-activated killer (LAK) activity in 25 IDDM patients aged 3-23 years, 12 with disease for < 1 year (Group I) and 13 with disease for > 3 years (Group II). Nine age-matched healthy subjects served as controls. The percentage of CD57+ cells was similar in IDDM patients and controls, while the percentage of CD16+ cells was lower in IDDM patients (P < 0.05) than in controls. NK cell cytotoxic activity was lower in IDDM patients than in controls (P < 0.01), in Group I and II compared with controls (P < 0.005). LAK activity was similar in IDDM patients and in controls. No correlation was found between NK cytotoxic activity and metabolic control, HLA typing, while a negative correlation was found between NK cytotoxic activity and insulin requirement (P < 0.05). The decreased NK cytotoxic activity observed in our patients, in particular in long-standing diabetics, with normal NK cell number, could be due to a qualitative defect of the NK cells, or to a deficient IL-2 and/or TNF-alpha production, or to a immunomodulatory or immunosuppressing effect of insulin.

Adolescent↗