Primary growth hormone insensitivity (Laron syndrome) and acquired hypothyroidism: a case report

<p>Abstract</p> <p>Introduction</p> <p>Primary growth hormone resistance or growth hormone insensitivity syndrome, also known as Laron syndrome, is a hereditary disease caused by deletions or different types of mutations in the growth hormone receptor gene or by post-receptor defects. This disorder is characterized by a clinical appearance of severe growth hormone deficiency with high levels of circulating growth hormone in contrast to low serum insulin-like growth factor 1 values.</p> <p>Case presentation</p> <p>We report the case of a 15-year-old Caucasian girl who was diagnosed with Silver-Russell syndrome at the age of four and a half years. Recombinant growth hormone was administered for 18 months without an appropriate increase in growth velocity. At the age of seven years, her serum growth hormone levels were high, and an insulin-like growth factor 1 generation test did not increase insulin-like growth factor 1 levels (baseline insulin-like growth factor 1 levels, 52 μg/L; reference range, 75 μg/L to 365 μg/L; and peak, 76 μg/L and 50 μg/L after 12 and 84 hours, respectively, from baseline). The genetic analysis showed that the patient was homozygous for the R217X mutation in the growth hormone receptor gene, which is characteristic of Laron syndrome. On the basis of these results, the diagnosis of primary growth hormone insensitivity syndrome was made, and recombinant insulin-like growth factor 1 therapy was initiated. The patient's treatment was well tolerated, but unexplained central hypothyroidism occurred at the age of 12.9 years. At the age of 15 years, when the patient's sexual development was almost completed and her menstrual cycle occurred irregularly, her height was 129.8 cm, which is 4.71 standard deviations below the median for normal girls her age.</p> <p>Conclusion</p> <p>The most important functional tests for the diagnosis of growth hormone insensitivity are the insulin-like growth factor 1 generation test and genetic analysis. Currently, the only effective treatment is daily administration of recombinant insulin-like growth factor 1 starting from early childhood. However, these patients show a dramatically impaired final height. In our case, unexplained central hypothyroidism occurred during treatment.</p

Screening for Active Small Molecules in Mitochondrial Complex I Deficient Patient's Fibroblasts, Reveals AICAR as the Most Beneficial Compound

Congenital deficiency of the mitochondrial respiratory chain complex I (CI) is a common defect of oxidative phosphorylation (OXPHOS). Despite major advances in the biochemical and molecular diagnostics and the deciphering of CI structure, function assembly and pathomechanism, there is currently no satisfactory cure for patients with mitochondrial complex I defects. Small molecules provide one feasible therapeutic option, however their use has not been systematically evaluated using a standardized experimental system. In order to evaluate potentially therapeutic compounds, we set up a relatively simple system measuring different parameters using only a small amount of patient's fibroblasts, in glucose free medium, where growth is highly OXPOS dependent. Ten different compounds were screened using fibroblasts derived from seven CI patients, harboring different mutations

BABELE: BABel Experience & Lessons

Master Impianti Industriali UNIG

Use of totally implantable vascular access port with mini-invasive Seldinger technique in 12 dogs undergoing chemotherapy

Vascular access ports (VPAs) are totally implantable devices designed to provide repeated access to the vascular system. Port access is performed by percutaneous needle insertion using a noncoring needle. VAPs have been placed in 12 dogs affected by different tumors and needing long lasting chemotherapy. Using the non-invasive Seldinger technique a silicone catheter was inserted from the jugular vein up to the junction of the cranial vena cava and the right atrium. The catheter then was connected to the port previously placed in a subcutaneous pocket over the scapula. 7/12 dogs showed no clinical complications. Port was removed in 4/12 dogs for post-operative complications as fistula formation (n.2) and infection/ mal-position (n.2). One patient had mild complications shortly after implantation. VPAs were left in site until the death in the rest of patients. VAPs are useful for dogs undergoing long-lasting chemotherapy protocols as these devices allow peripheral veins to be spared and not seriously damaged for repeated infusion of vesicant drugs. In most cases VPAs are well tolerated and may be left in site for several months

Squamous-cell Carcinoma of the Gallbladder

Pure squamous cell carcinoma is an infrequent histologic type of gallbladder cancer. Its incidence ranges from 0 to 15% of all gallbladder neoplasms. A case of squamous cell carcinoma of the gallbladder is described and the essential diagnostic, clinical and therapeutic aspects of the primitive gallbladder cancer are discussed

La validazione dell'AIMIT

La teoria multi-motivazionale dei Sistemi Interpersonali costituisce la cornice di riferimento dello studio presentato, quale prima fase di validazione dell'AIMIT. I risultati forniscono una prima evidenza empirica dell'affidabilità di tale metodo di studio dei SMI e riconfermano l'importanza della ricerca sulla motivazione interpersonale e sull'intersoggetività nella prospettiva cognitivo-evoluzionista

Assessment of interpersonal motivation in transcripts (aimit): an inter- and intra-rater reliability study of a new method of detection of interpersonal motivational systems in psychotherapy

Assessing Interpersonal Motivations in Transcripts (AIMIT) is a coding system aiming to systematically detect the activity of interpersonal motivational systems (IMS) in the therapeutic dialogue. An inter- and intra-rater reliability study has been conducted. Sixteen video-recorded psychotherapy sessions were selected and transcribed according to the AIMIT criteria. Sessions relate to 16 patients with an Axis II diagnosis, with a mean Global Assessment of Functioning of 51. For the intra-rater reliability evaluation, fi ve sessions have been selected and assigned to fi ve independent coders who where asked to make a fi rst evaluation, and then a second independent one 14 days later. For the inter-rater reliability study, the sessions coded by the therapist-coder were jointly revised with another coder and finally classified as gold standard. The 16 standard sessions were sent to other evaluators for the independent coding. The agreement (ê) was estimated according to the following parameters for each coding unit: evaluation units supported by the ‘codable’ activation of one or more IMS; motivational interaction with reference to the ongoing relation between patient and therapist; an interaction between the patient and another person reported/narrated by the patient; detection of specifi c IMS: attachment (At), caregiving (CG), rank (Ra, sexuality (Se), peer cooperation (PC); and transitions from one IMS to another were also scored. The intra-rater agreement was evaluated through the parameters ‘cod’, ‘At’, ‘CG’, ‘Ra’, ‘Se’ and ‘PC’ described above. A total of 2443 coding units were analysed. For the nine parameters on which the agreement was calculated, eight [‘coded (Cod)’, ‘ongoing relation (Rel)’, ‘narrated relation (Nar)’, ‘At’, ‘CG’, ‘Ra’, ‘Se’ and ‘PC’] have ê values comprised between 0.62 (CG) and 0.81 (Cod) and were therefore satisfactory. The scoring of ‘transitions’ showed agreement values slightly below desired cut-off (0.56). Intra-rater reliability was very good (ê values for Cod = 0.90; ê for all IMS = 0.78). Data seem to support the validity of the AIMIT method in terms of reliability, and encourage to further implementation of the AIMIT approac