1,721,040 research outputs found
Infiammazione cronica e fibrosi cistica: effetti sulla crescita, sensibilità insulinica e diabete, metabolismo osseo e funzionalità tiroidea
No full text
Funzionalita' dell' asse ipotalamo-ipofisi-gonadi in adolescenti con diabete mellito insulino-dipendente (IDDM).
No full textFrom bench to bedside: miR-155, and miR-370 are related with genotype and glucose tolerance state in cystic fibrosis (CF).
No full textDocosahexaenoic acid (DHA) is reduced and could be protective against Hashimoto's thyroiditis in children with Down syndrome: a cross-sectional study
No full textAntibiotic resistance and antibiotic sensitivity based treatment in Helicobacter pylori infection: advantages and outcome.
No full textAIMS: To compare two strategies for the eradication of Helicobacter pylori infection.
METHODS: Groups 1 and 2 each consisted of 75 consecutive patients. Patients in group 1 were treated with two antibiotics based on antibiotic susceptibility testing; those in group 2 received amoxycillin and clarithromycin for eight days, together with either ranitidine or omeprazole. Eradication rate was assessed in both groups six months after treatment.
RESULTS: In group 1, H pylori grew in culture in 63/75 cases. Susceptibility testing showed that 35/63 isolates were resistant to metronidazole, 10/63 to clarithromycin, 2/63 to ampicillin, 1/63 to tetracycline, and 5/63 to both clarithromycin and metronidazole. In group 1 the infection was eradicated in 96% of the initial 75 subjects, and in 98% of the subjects treated according to the antibiotic assay (62/63). As two patients were lost at follow up the overall eradication rate was 99%. In group 2, eradication was achieved in 61/75 subjects (81%). This was significantly lower than the percentage of eradication observed in group 1 (81% versus 99%).
CONCLUSIONS: Antibiotic susceptibility tests are useful in childhood as a very high percentage of subjects are cured. This approach is costly, but selective antibiotic treatment contributes to limit further development of antibiotic resistance, and money is saved in terms of reinvestigation and further repeated treatments
A systems biology approach: new insights into fetal growth restriction using Bayesian Networks.
No full textIL-6, IGF-II and IGFBP-2 concentrations in placental lysates were previously shown to be associated with foetal growth. This study aimed to apply a Bayesian Network (BN) model in order to investigate complex dependencies among biochemical and clinical factors and fetal growth outcome. Twenty-one Intra-Uterine Growth Restricted (IUGR) and 25 Appropriate for Gestational Age (AGA) pregnancies were followed throughout pregnancy. Information was collected on maternal and gestational age, neonatal gender, previous gynaecological history. Total protein content, IGF-II, IGFBP-1, IGFBP-2, IL-6, and TNF-alpha concentrations in placental lysates were measured, and IGF-I, IGF-II, IGFBP-1, IGFBP-2 and IL-6 relative gene expression in placenta assessed. A BN and a hybrid forecasting system were implemented: BN revealed a key role of maternal age and TNF-alpha on IUGR and confirmed a close relationship among IGF-II, IL-6 and foetal growth. A relationship between duration of gestation, appropriateness for gestational age, and placental IL-6 concentration was also confirmed. Compared with other techniques, BN showed a better accuracy. Findings confirmed a major role of maternal age in addition to IGF-II, IL-6 and TNF-alpha in IUGR. A direct role of IGFBP-2 was not shown. BN confirmed to be useful in understanding the system's biology and graphically representing variable relationships and hierarchy, particularly where, as in IUGR, many interactions among predictors exist
Central Precocious Puberty in McCune Albright Syndrome: a case report
No full textIntroduction: McCune Albright Syndrome (MAS) is a rare disorder caused by somatic activating mutations of the GNAS gene, characterized by monostotic/polyostotic fibrous dysplasia, café au lait skin pigmentation and hyperfunctioning endocrinopathies. We report a case of MAS presenting with mild phenotypic characteristics and central precocious puberty (CPP).
Case: Indian female was referred to our clinic for premature thelarche. Second child, born at term by caesarean section due to foetal abnormal presentation. Pregnancy was physiological, parents were non consanguineous. Neonatal weight was 2678 g (-0.85 SDS). At birth a congenital vascular abnormality on the nose was treated with propranolol for 9 months. At first evaluation at the age of 1 year and 10 months length was 80.3 cm (-1.45 SDS), within the family range (target height 155 cm, -1.3 SDS), weight was 9.9 kg (-0.96 SDS), head circumference was 45.5 cm (-1.03 SDS). Puberal stages showed bilateral thelarche (B2), no pubarche. Bone age was correspondent to chronological age according with Greulich &Pyle atlas. Initial blood exams and pelvic ultrasound were compatible with prepuberty. Due to persistent thelarche and increased height velocity, the girl underwent a gonadotropin-releasing hormone (GnRH) stimulation test that confirmed CPP. Brain MRI was normal. Therapy with a GnRH agonist was started. Due to the discovery of a widespread café-au-lait spot on the left side of the abdomen and two other millimetric spots on the right side of the abdomen and left arm, with indented edges (not compatible with neurofibromatosis 1), genetic evaluation was requested. In the suspicion of a somatic mosaicism of the GNAS gene, digital PCR analysis was performed, both on DNA extracted from peripheral blood leukocytes and on circulating DNA extracted from plasma, revealing the variant c.605G>A in the GNAS gene. This variant, compatible with MAS, is present only in some cells (mosaicism) and appeared in the post-zygotic phase. Parents were not carriers of this variant. Other investigations were precociously performed according to guidelines; currently no other endocrinopathies have been found and no radiological bone abnormalities have been detected.
Discussion: MAS is characterised by a variable spectrum of phenotypes. Our patient presented a mild phenotype, probably due to mosaicism and early timing of diagnosis. Interestingly, the girl presented gonadotropin-dependent and not gonadotropin-independent PP, that is most frequently associated with the syndrome. Precocious diagnosis was essential to start specific follow-up of the patient, allowing clinicians to promptly identify and eventually treat any other manifestations or complications
Short stature due to a novel missense variant (695C>A) in the GHR gene: a case report
No full textIntroduction: Laron Syndrome (LS) or primary growth hormone (GH) insensitivity is an autosomal recessive disorder due to variants in the GH-receptor (GHR) gene or to post-receptor defects. LS prevalence is estimated 1-9/1000000. We report a case of LS with a missense variant in the GHR gene not previously described.
Case: female, Turkish, was referred to our clinic for short stature. Born at term, birth weight was 3890 g (1.68 SDS), length 48 cm (-0.83 SDS) and head circumference 36 cm (1.72 SDS). The parents are first cousins; target height was 160 cm (-0.44 SDS). At first evaluation at 8 months: length 59,7 cm (-4.15 SDS), weight 6.5 kg (-1.86 SDS), head circumference 42 cm (-1.24 SDS), prepubertal. The phenotype was characterized by frontal bossing, midface retrusion, depressed nasal bridge, chubby cheeks, thin lower lip, downturned mouth cornersface. Bone age was 6 months according to Greulich & Pyle atlas. The hematological tests showed low IGF-1 (10 ng/ml, range 8-131) and IGFBP3 (385 ng/ml, range 710-2760) levels, compared to laboratory reference values for sex and age. Due to a relevant reduction of growth velocity in the following six months (4.26 cm/yr, -5.02 SDS) a GH stimulation test was performed with normal GH peak (GH 38.9 ng/ml). Brain MRI was normal. Karyotype was 46,XX. Clinical Exome Sequencing showed the homozygous missense variant c.695 C>A (P.Ser232Tyr) in the GHR gene, yet undescribed. The parents were heterozygous carriers of the same variant. At the age of 2 years and 2 months, the baby started therapy with subcutaneous injections of mecasermin (starting dose 0.04 mg/kg twice daily), showing improvement in growth velocity and muscular tone. Dietary indications with adequate caloric intake, in order to prevent hypoglycaemia, were provided and specific evaluations (cardiological, ophthalmological and ENT evaluations) are regularly performed according to the treatment protocol.
Discussion: LS is characterised by a typical phenotype associated with biochemical findings such as high serum GH and low levels of IGF-1 More than 70 variants, ranging from deletions to point mutations including missense, nonsense, frameshift and splice-site variants, have been previously identified. Therapy with recombinant IGF-1 improves height, metabolic parameters and motor development. Our case presented clinical characteristics of LS (dwarfism, typical phenotype), the diagnosis was confirmed biochemically and genetically, and therapy was started early. It is interesting to underline the importance of surveillance of these patients to optimize therapy and prevent potential adverse consequences
Analysis of bone mineral density and turnover in patients with cystic fibrosis: associations between the IGF system and inflammatory cytokines
No full textBACKGROUND: Cystic fibrosis (CF) patients present an increased risk of osteoporosis, and increased fracture rate. Several factors have been identified as modulators of bone metabolism and bone mineral density (BMD).
AIMS:
To evaluate BMD and serum markers of bone turnover and establish their relationships with serum concentrations of interleukin (IL)-1beta, IL-6, tumour necrosis factor (TNF)-alpha, IGF-I, IGF-II, IGF binding protein (IGFBP)-2, IGFBP-3, and parathyroid hormone (PTH) in young adult CF patients.
METHODS:
Seventeen young adult CF patients (4 M, 13 F; mean age: 26.6 +/- 1.1 years) were enrolled in the study and analysed as a whole and as two subgroups according to the Shwachman-Kulczycki score. BMD was assessed at the lumbar spine (L1-L4) by dual energy X-ray absorptiometry (DXA Hologic QDR 2000). Bone turnover was assessed by measuring serum levels of osteocalcin (OC) and serum carboxyterminal propeptide of type I collagen (PICP) as markers of bone formation, and serum cross-linked carboxyterminal telopeptide of type I collagen (ICTP) as a marker of bone resorption. Serum IGFs, IGFBPs, and cytokines were assayed using special commercial kits. Daily calcium intake and weekly physical activity were estimated by questionnaires. Forced expiratory volume in one second was used to assess pulmonary function.
RESULTS:
Lumbar BMD was normal, although there was a tendency to be lower in the patients with a lower clinical score. Both OC and PICP were increased, whereas ICTP was normal. Lumbar BMD was positively correlated with pulmonary function. IL-6 and C-reactive protein (markers of inflammation) were inversely correlated with PICP. Serum ICTP levels were correlated with serum IGF-I levels. No significant relationship was detected among lumbar BMD, markers of bone turnover and PTH, IGF-I, IGF-II, IGFBP-2, IGFBP-3, TNF-alpha, IL-1beta, and body mass index Z-score.
CONCLUSIONS:
Bone turnover is abnormal in CF patients. Young adult CF patients with satisfying clinical status and nutritional conditions have normal BMD and increased serum OC and PICP levels
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