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Biomedical subjects

A Naselli

Publications and source records attributed to A Naselli.

At least 19 recordsLinked to original sources
PubMed1998

Trichorhinophalangeal syndrome type I in monozygotic twins discordant for hip pathology. Report on the morphological evolution of cone-shaped epiphyses and the unusual pattern of skeletal maturation.

A pair of monozygotic twin girls with trichorhinophalangeal syndrome type I (TRPS I), followed from 8.3 to 16.1 years of age, is described. Both showed typical dysmorphic features and severe short stature, but only one had Perthes-like changes in the right capital femoral epiphysis. The radiographic findings and evolutionary changes of phalangeal cone-shaped epiphyses (PCSE) of the hands are illustrated in this report. The unusual bone maturation and growth of the twins are also described. Both presented poor growth and delayed bone age until about 13 years, followed by marked acceleration of bone age and stunted pubertal height spurt.

Adolescent↗
PubMed1998

A 'de novo' point mutation of the low-density lipoprotein receptor gene in an Italian subject with primary hypercholesterolemia.

Severe hypercholesterolemia was found in an 11-year-old boy with no family history of familial hypercholesterolemia. The reduced LDL-receptor activity in cultured skin fibroblasts (40% 125I-LDL degradation as compared with a control cell line) indicated the presence of an LDL-receptor defect. The analysis of the promoter region and the exons of LDL-receptor gene by single strand conformation polymorphism revealed an abnormal migration pattern in exon 1, which was due to a T --> A transversion at nucleotide 28 of the cDNA. This novel mutation causes an arginine for tryptophane substitution at position - 12 of the signal peptide (W-12R) and introduces an AviII restriction site in exon 1. Screening of the mutation by polymerase chain reaction (PCR) amplification of exon 1 and AviII digestion revealed that none of the proband's family members carried the mutation. Non-paternity was excluded after the analysis of a battery of 14 short tandem repeats located in 13 different chromosomes. These results are consistent with the hypothesis that the proband is heterozygous for a 'de novo' mutation of the LDL-receptor gene producing a non-conservative amino acid substitution. We suggest that the change in the net charge of the signal peptide, caused by the addition of a positively charged amino acid, impairs the co-translational translocation of the nascent receptor protein across the endoplasmic reticulum membrane.

Adolescent↗
PubMed1997

Ectodermal abnormalities in Kabuki syndrome.

We describe a girl with Niikawa-Kuroki (Kabuki) syndrome (NKS) with conical incisors, hypodontia, hypoplastic nails, and brittle hair. Abnormal teeth are common in NKS and support a hypothesis of autosomal dominant inheritance of the syndrome [Halal et al., 1989; Silengo et al., 1996]. Hair abnormalities have never been investigated in NKS. The ectodermal involvement in NKS could represent an important clue for the understanding of the pathogenesis of this syndrome.

Abnormalities, Multiple↗
PubMed1997

Monoclonal and polyclonal antibodies against casein components of cow milk for evaluation of residual antigenic activity in 'hypoallergenic' infant formulas.

BACKGROUND: Hydrolysed casein and whey protein formulas have been developed with the aim of preventing sensitization in infants at high risk of cow milk allergy. Subsequently these products have also been used for treatment of children with cow milk allergy. However, severe reactions have occurred in some allergic infants fed with these formulas raising doubts about their absolute safety and suggest the need for developing in vitro techniques for detection of eventual residual allergenic activity in such preparations. OBJECTIVES: Our purpose was to evaluate the usefulness of monoclonal and polyclonal antibodies against casein components (alpha, beta and kappa casein) as reagents for the detection of the residual antigenic activity of casein components in several hydrolysed formulas. METHODS: The monoclonal and polyclonal antibodies were produced according to standard procedures by immunizing female Balb/c mice with casein fraction (a mixture of alpha, beta and kappa casein). ELISA assays were developed to test the specificity of the antibodies and to detect and evaluate the amount of residual antigenic activity of the casein components in hydrolysed formulas. RESULTS: Use of polyclonal antiserum specific for casein allowed detection of residual antigenic activity of casein components in all partial hydrolysates and in the two extensive whey protein hydrolysates in the amounts ranging from 0.05 to 0.67% of total protein. No such activity was detectable in either the two extensive casein hydrolysates tested or the aminoacid based formula. The polyclonal antiserum proved to be more suitable than monoclonals for detecting residual antigenic activity in the hydrolysates. The monoclonal antibodies were directed against epitopes expressed on different casein components. CONCLUSIONS: In this study the ELISA inhibition assay with polyclonal antibodies specific for casein components of cow milk proved to be a sensitive method for estimating residual antigenicity in the hydrolysed formulas commercially available for infants with cow milk allergy suggesting their potential application for the quality control of hypoallergenic infant formulas.

Animals↗
PubMed1996

The phenotype of a 45,X male with a Y/18 translocation.

In this report, we describe a male infant with a 45,X karyotype; the entire short arm and the centromere of the Y chromosome were translocated onto the short arm of chromosome 18, resulting in an unbalanced dicentric chromosome. Breakpoints were identified by in situ fluorescence hybridization (FISH) on the proximal Yq11 and 18p11.2. Both Y and 18 centromeric alphoid sequences were identified on the derived 18 chromosome. Clinical features were compatible with 18p- syndrome and no Turner stigmata were present in our propositus. Short stature was likely to be related to the deletion of 18p and/or Yq, where a gene involved in stature determination has been located proximal to a gene involved in spermatogenesis (AZF).

Abnormalities, Multiple↗
PubMed1995

Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FHBenevento).

A novel point mutation of the LDL-receptor gene was found in an Italian patient with homozygous familial hypercholesterolemia. The SSCP analysis of the promoter and of 16 out of the 18 exons of the LDL-receptor gene was negative, suggesting that the mutation might be located in the region of the gene encompassing exons 14 and 15, a region that had not been amenable to polymerase chain reaction (PCR) amplification from genomic DNA. This region was amplified from cDNA by reverse transcription PCR (RT-PCR). RT-PCR of proband cDNA generated three fragments of 800, 600, and 550 bp, respectively, as opposed to a single 720 bp fragment obtained from control cDNA. The sequence of these fragments showed that: i) in the 800-bp fragment exon 14 continued with the 5' end of intron 15 (90 nucleotides), which in turn was followed by exon 16; ii) in the 600-bp fragment exon 14 was followed by the 5' end of exon 15 (50 nucleotides), which continued with exon 16; iii) in the 550-bp fragment exon 14 joined directly to exon 16. These abnormally spliced mRNAs resulted from a G-->A transition at the +1 nucleotide of intron 15, which changed the invariant GT dinucleotide of the 5' donor splice site. That was associated with the activation of two cryptic donor splice sites in intron 15 and exon 15, respectively, and the use of an alternative splicing leading to the skipping of exon 15. Northern blot analysis showed that the overall content of these aberrantly spliced mRNAs in proband fibroblasts was one-fourth that found in control cells. These abnormally spliced mRNAs are predicted to encode three abnormal receptor proteins: the first would contain an insertion of 30 novel amino acids; the second would be a truncated protein of 709 amino acids; the third would be devoid of the 57 amino acids of the O-linked sugar domain. Ligand blot experiments indicated that the amount of LDL-receptor present in proband's fibroblasts was approximately one-tenth that found in control cells.

Base Sequence↗
PubMed1990

Modified Greulich-Pyle, Tanner-Whitehouse, and Roche-Wainer-Thissen (knee) methods for skeletal age assessment in a group of Italian children and adolescents.

Modified Greulich-Pyle (GP), Tanner et al. 2, radius, ulna and short bones (TW2-RUS), TW2-20-bone and Roche-Wainer-Thissen RWT (knee) skeletal age assessments were made in an Italian population sample of 128 males and 93 females aged 4.1-16.9 years. All the scales appear to be well-suited to the Italian population despite minor differences. A very high correlation was found between the assessment of knee skeletal ages by the RWT method and that of the hand-wrist by the GP and TW2 systems in the same subject without sex and age-associated variations.

Adolescent↗
PubMed1989

[Anorexia nervosa in adolescents. Clinical aspects of the diagnosis and a follow-up].

In a brief review of the literature, the diagnostic, prognostic and therapeutic criteria of anorexia nervosa in adolescence are considered. An interdisciplinary approach (child neuropsychiatrists, clinical psychologists, auxological pediatricians) was adopted in 52 cases with a diagnosis of anorexia nervosa (46 females, 6 males; mean age 14). The results of the analysis of somatic disturbances (weight loss, anomalous sexual maturation), psychological aspects (cognitive level, organization of the personality), environmental implications (familial, social and school adjustment; mother-child relationship; pedagogic modalities; social and economic factors) are reported. The data from a follow-up of 29 patients (26 females, 3 males; mean age 19) are reported, and the degree of recovery assessed as follows: 1) clinical recovery at somatic-adjustment level (79% complete, 17% with atypical characteristics); 2) achievement of a harmonic organization of the personality (48%). The paper concludes with some remarks on the treatment, prognosis and prospects for prevention of the condition.

Adolescent↗
PubMed1988

Growth and development in simple obesity.

It is well known that fat children tend to be taller than their peers and to present a slight acceleration of skeletal and pubertal maturation. To verify this tendency and to examine some of the points that are still controversial, auxological data were studied concerning 303 subjects (141 males and 162 females, aged 6-16 years) affected by simple obesity. Subjects were seen to be taller than average by about 1 SD from 6 to 9 years of age, becoming close to or shorter than average at later ages. Height below the 10th percentile was common in 17% of males and 8% of females, due to hereditary shortness, growth delay or late puberty. Girls had early puberty and menarche; the rate of sexual maturation was variable in boys.

Adolescent↗
PubMed1985

Growth and sexual maturation in thalassemia major.

Growth and sexual development were evaluated in 250 adolescents with beta-thalassemia major. Before transfusion hemoglobin concentration had not been less than 9.5 gm/dl in the last 5 years; desferrioxamine had been administered for 7 to 10 years, including by the subcutaneous route for 3 years. Thirty-seven percent of patients were found to be 2 SD below the mean for normal height; after age 14 years the percentage was 62% for males and 35% for females. Eighty-three percent of males and 75% of females had delayed skeletal maturation. Complete lack of pubescent changes was present in 38% of females and 67% of males aged 12 to 18 years. Only 19% of females had experienced menarche; secondary amenorrhea intervened in a third of them. A multiple regression analysis of indicators of pubertal development with age, age at first transfusion, age at splenectomy, number of transfusions, serum transaminase and ferritin, and duration and intensity of chelation therapy failed to identify the factors responsible for the variation observed in sexual maturation among patients with thalassemia.

Adolescent↗