1,720,975 research outputs found
Effect of different growth hormone dosages on the growth velocity in children born small for gestational age.
No full textThe risk of diabetes mellitus in children born small for gestational age and treated with recombinant growth hormone
No full textFinal height outcome in both untreated and testosterone-treated boys with constitutional delay of growth and puberty.
No full textIdentification of one novel causative mutation in exon 4 of WFS1 gene in two Italian siblings with classical DIDMOAD syndrome phenotype.
Full text linkAbstract
The aim of the present paper is to describe a novel missense mutation (G107R) of WFS1 gene that was unexpectedly detected, in two siblings from Southern Italy, outside exon 8; a very unusual finding which has previously been reported only twice in Italian patients with Wolfram syndrome (WS). Although in Spanish pedigrees' WFS1 mutations are frequently located in exon 4, this finding is very infrequent in other pedigrees, particularly in Italian patients. Conclusions: a) our report of two siblings with one novel WSF1 mutation (G107R) expands the molecular spectrum of WS; b) this is the 3rd report of Italian patients harbouring one mutation outside exon 8 and the 2nd with one mutation in exon 4; c) on the basis of the present observations, and literature data we can infer that mutation locations outside exon 8 do not seem to be clearly associated with peculiar phenotype expressions of WFS1 gene
Final height outcome of growth hormone-deficient patients treated since less than five years of age.
No full textLa malattia oncologica: confronto fra le reazioni psicologiche di pazienti con tumore al seno e pazienti con altri tipi di tumore
No full text"Il tumore al seno rappresenta una delle patologie più importanti, in ambito oncologico, per il sesso femminile. Questo anche per le valenze simboliche del seno, in quanto essenza stessa della femminilità, della sessualità e della maternità. . Questo studio intende valutare se le donne con carcinoma mammario esperiscano una condizione di sofferenza emotiva più intensa rispetto alle pazienti con altre diagnosi di neoplasia, per via del particolare investimento emotivo sull’organo colpito dalla malattia. Dai risultati emerge che le donne con tumore alla mammella presentano, rispetto alle donne con altri tipi di tumore, livelli di ansia e di depressione più bassi, una migliore qualità di vita e la tendenza ad utilizzare uno stile di coping orientato all’evitamento. Si potrebbe ipotizzare che questo stile di coping attenui le condizioni di disagio legate alla malattia, influendo positivamente su alcuni aspetti della qualità di vita.""Breast cancer represents one of the most important oncological pathologies among women. This is also due to breast symbolic worthiness, as core of womanhood, sensuality and motherhood. . The present study aims at evaluating whether women affected by breast cancer experience a more intense emotional distress than patients with different oncological diagnosis, because of the particular emotional investment on the affected organ. . Results show that women affected by breast cancer have lower anxiety and depression levels, a better quality of life and the tendency to use an avoiding coping style, if compared with women with other kinds of cancer. We suppose that this coping style relieves distress conditions related to oncological disease and positively influences some aspects of the quality of life.
McCune-Albright syndrome in a boy may present with a monolateral macroorchidism as an early and isolated clinical manifestation.
No full textTestis enlargement in McCune-Albright syndrome (MAS) is generally bilateral and associated with clinical and biochemical manifestations of sexual precocity. CASE REPORT: We describe for the first time an unreported clinical expression of MAS in a 4.6-year-old boy presenting with monolateral testis enlargement and no signs of sexual precocity or other clinical manifestations of MAS at the time of presenting with macroorchidism. Both testosterone and LHRH-stimulated gonadotropin levels were in the prepubertal range. Serum inhibin B was increased to a pubertal level indicating Sertoli cell activation. The histological and immunocytochemical evaluation of the enlarged testis revealed Sertoli cell hyperplasia with no mature Leydig cells. Mutation R201C of GNAS1 gene, classically responsible for MAS, was identified in DNA samples from the right testis biopsy and leukocytes. CONCLUSIONS: (a) MAS should be taken into consideration in the clinicopathological approach to a boy with monolateral macroorchidism; (b) testicular enlargement may be only the presenting clinical manifestation of MAS and is not necessarily linked to manifestations of peripheral precocious puberty; (c) testicular autonomous hyperfunction in MAS may be restricted to Sertoli cells, as also demonstrated previously by others
Comparison between two maintenance feeding regimens after successful cow's milk oral desensitization.
No full textFinal height outcome in both untreated and testosterone-treated boys with constitutional delay of growth and puberty
No full textThe present retrospective study is based on a historical follow-up of 49 boys with constitutional delay of growth and puberty (CDGP) who went into puberty spontaneously (27 cases) or induced by depotestosterone treatment, 50 mg/month for 6 months (22 cases), At the time of puberty the two groups of boys were similar in bone age, height deficiency, target height (TH) and had similar predicted final heights (FH). Their FH was measured and compared with TH calculated from measured parents' heights. FH did not significantly differ between the untreated boys and those treated, In the two groups of patients FH was similar and corresponded to both TH and height predicted at puberty onset, This study confirms that most boys with CDGP spontaneously attain a FH within the target range (24/27 cases), A short-term and low dose course of depotestosterone can be used without adverse effects on FH, The Bayley-Pinneau method can be generally considered accurate for predicting FH in CDGP, although significant discrepancies between FH and predicted height have been recorded in a fair number of both untreated and treated boys
The risk of diabetes mellitus in children born small for gestational age and treated with recombinant growth hormone
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