![Loading...](https://link.springer.com/static/c4a417b97a76cc2980e3c25e2271af3129e08bbe/images/pdf-preview/spacer.gif)
-
Article
A new DLK1 defect in a family with idiopathic central precocious puberty: elucidation of the male phenotype
We aimed to investigate a cohort of female and male patients with idiopathic central precocious puberty (CPP), negative for Makorin Ring Finger Protein 3 (MKRN3) defect, by molecular screening for Delta-like 1 ho...
-
Article
Open AccessStochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism
The elevated frequency of discordance for congenital hypothyroidism (CH) phenotype between monozygotic twins suggests the involvement of non-mendelian mechanisms. The aim of the study was to investigate the ro...
-
Article
Extreme hyperosmolarity and severe ketoacidosis in a child with type 1 diabetes mellitus at onset safely treated with current guidelines
-
Article
Open AccessX-linked hypophosphatemic rickets: an Italian experts’ opinion survey
X-linked hypophosphatemic rickets (XLH) is the first cause of inherited hypophosphatemia and is caused by mutation in the PHEX gene, resulting in excessive expression of the phosphaturic factor FGF23. Symptoms ar...
-
Article
Relationships between thyroid function and autoimmunity with metabolic derangement at the onset of type 1 diabetes: a cross-sectional and longitudinal study
Type 1 diabetes (T1DM) is an autoimmune disease often associated with thyroid abnormalities.
-
Article
The Italian screening program for primary congenital hypothyroidism: Actions to improve screening, diagnosis, follow-up, and surveillance
The Italian screening program for primary congenital hypothyroidism (CH) is an integrated system including neonatal screening, diagnosis, treatment, follow-up, and nationwide surveillance of the disease. The a...
-
Article
Autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy in Calabria: Clinical, immunological and genetic patterns
Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED), also known as autoimmune polyendocrine syndrome type 1 (APS-1), is a very rare disease. Diagnosis requires the presence of at least two ...
-
Article
290 Neonatal Thyrotoxicosis: Pathogenesis, Clinical Features and Diagnosis
Introduction: Neonatal Thyrotoxicosis (1:4000) is caused by the transplacental passage of thyroid stimulating immunoglobulins (TSIs) from mothers with Basedow disease/Hashimoto thyroiditis. Hyperthyroidism is ...
-
Article
HYPODIPSIA-HYPERNATREMIA SYNDROME - A PEDIATRIC CASE REPORT
The cases of chronic hypodipsis and hypernatremia represent a rarity, especially for the pediatric age group, and are mostly reported as “neurogenic” or “essential” hypernatremia. This paper describes a 2 3/12...
-
Article
116 GROWTH FACTORS IN HUMAN FOETAL PLASMA DURING THE SECOND TRIMESTER OF GESTATION: “IN UTERO” STUDY
The role of growth factors in fetal development is not clear. Fetal blood was obtained from 61 fetuses aged 19-25 weeks during the course of funicolocentesis performed for: suspected thalassaemia, fetal malfor...
-
Article
150 GONADAL HITOLOGY IN TWENTY SUBJECTS WITH MAL PSEUDO – HERNAFRODITISM
Gonadal histology was investigated by means of conventional microscopy in 11 Complete Adrogen insensitivity Syndrome (CAIS), in 5 Incomplete Adrogen Insensitivity Syndrome (IAIS) and in 4 5αreductase deficienc...
-
Article
Haemorheologic and fibrinolytic evaluation in obese children and adolescents
The haemorheologic condition was evaluated in 43 obese children and 35 controls. In 18 of the obese children and in 21 controls the euglobulin lysis time (ELT) was also studied. Blood viscosity at 94.5 and at ...
-
Article
TREATMENT WITH CLONIDINE IN SUBJECTS WITH CONSTITUTIONAL GROWTH DELAY (CGO): A CONTROLLED DOUBLE-BLIND STUDY
In 1985, Pintor et al. reported that treatment with clonidine (CI), an α2-a-drenergic agonist, accelerates growth in children with growth disorders. In order to confirm or disprove this observation, we studied...
-
Article
PREVALENCE OF COELIAC DISEASE IN TYPE 1 DIABETES MELLITUS: A STUDY PERFORMED VIA TESTS FOR ANTIGLIADIN ANTIBODIES
The association between diabetes mellitus and coeliac disease has been described a number of times. By using tests for antireticulin antibodies, Maki et al. found a greater prevalence of the disease in diabeti...
-
Article
Somatomedin-C levels related to gestational age, birth weight and day of life
Capillary blood samples on filter paper were assayed by means of an RIA method (Kit Nichols Institute USA) from 1096 newborns divided into full term, preterm and small-for-date infants. The somatomedin-C (Sm-C...
-
Article
Neonatal screening programme for congenital adrenal hyperplasia in a homogenous Caucasian population
-
Chapter
Neonatal Screening Programme for Congenital Adrenal Hyperplasia in a Homogenous Caucasian Population
The considerable variation in the reported incidence of congenital adrenal hyperplasia (CAH 1, McKusick 20191) (Childs et al 1956; Prader, 1958; Hubble, 1966; Rosenbloom and Smith, 1966; Hirschfield and Fleshman,...
-
Article
Somatomedin-C in fullterm, preterm and small for date infants
Capillary blood samples on filter paper were assayed by means of a RIA method (kit Nichols Institute USA) from 1096 newborns divided into fullterm,preterm and small for date infants.Somatomedin-C (SmC) mean va...
-
Article
Neonatal screening for 21-hydroxylase deficiency: a microfilter paper method for 17-α-hydroxyprogesterone assay
A micromethod for measuring 17a-hydroxyprogesterone in blo’od collected on filter paper has been developed. Our method is rapid, easy and has the specificity, accuracy and precisoin of the radioimmunoassay in ...
-
Article
Neonatal screening for congenital-adrenal hyperplasia using a microfilter paper method for 17-α-hydroxyprogesterone radioimmunoassay. Experience gained from 22.233 cases
We examined 22.233 infants born in Emilia-Romagna (Italy). Capillary blood samples for 17-OH-progesterone assay were collected on the 3rd, 4th, 5th, 6th or 7th day of life on filter paper of the same type used...