Search results for "Dwarfism"

MRI findings and genotype analysis in patients with childhood onset growth hormone deficiency--correlation with severity of hypopituitarism.

2007

Aim: To evaluate the relationship between pituitary size, PIT1 and PROP1 genotype, and the severity of childhood onset growth hormone deficiency (coGHD). Patients: Forty-four patients with coGHD (34 M; 9.7 ± 4.1 years): severe isolated (SI) GHD (n = 14); partial isolated (PI) GHD (n = 13); multiple pituitary hormone deficiencies (MPHD) (n=17). Results: Pituitary abnormalities were found in 7/14 patients with SIGHD (50%), 16/17 patients with MPHD (94.1%), and no patient with PIGHD. Mean pituitary height (PHT SDS) was significantly lower in MPHD than in SIGHD and PIGHD. Pituitary height SDS and pituitary volume (PV) SDS correlated with IGF-I SDS and stimulated GH peaks in the SIGHD and MPHD g…

Combined therapy with insulin and growth hormone in 17 patients with type-1 diabetes and growth disorders.

2013

<b><i>Background/Aim:</i></b> Combined growth hormone (GH) and insulin therapy is rarely prescribed by pediatric endocrinologists. We investigated the attitude of Italian physicians to prescribing that therapy in the case of short stature and type-1 diabetes (T1DM). <b><i>Methods:</i></b> A questionnaire was sent and if a patient was identified, data on growth and diabetes management were collected. <b><i>Results:</i></b> Data from 42 centers (84%) were obtained. Of these, 29 centers reported that the use of combined therapy was usually avoided. A total of 17 patients were treated in 13 centers (GH was started before T1…

Cognitive skills in achondroplasia

1993

Increased intracranial pressure and ventricular and subarachnoidal dilatation are common manifestations in achondroplasia. They rarely lead to major neurologic and/or psychomotor deficits and neurosurgical intervention is seldom needed. The present study was undertaken to detect signs of minor cerebral dysfunction and discuss possibilities of their prevention. Thirty children with achondroplasia were compared to 3 control groups: their next-born sibs, 30 children with other forms of dwarfism, and 30 children with normal height. Early development was assessed by means of questionnaires. Cognitive skills were evaluated with the German version of the Cognitive Abilities Test and the Lorge-Thor…

High prevalence of hypovitaminosis D in Sicilian children affected by growth hormone deficiency and its improvement after 12 months of replacement tr…

2014

PURPOSE: Although the correlation between vitamin D and growth hormone (GH)-insulin-like growth factor 1 (IGF1) axis is documented, as of date, few and conflicting studies have prospectively analyzed vitamin D before and after GH treatment. Our aim was to evaluate as to how the condition of GH deficiency (GHD) or GH treatment influences vitamin D in children. METHODS: Eighty Sicilian GHD children (M/F 58/22; mean age 10.3 years), grouped according to the season of evaluation in group A (June-September; 41 children) and group B (November-February; 39 children), were evaluated at baseline and after 12 months of GH treatment. RESULTS: Twenty-eight children (35 %) were vitamin D insufficient an…

Correlation between adrenal function, growth hormone secretion, and insulin sensitivity in children with idiopathic growth hormone deficiency

2017

Purpose Patients with growth hormone deficiency (GHD) demonstrate an increased cortisol/cortisone ratio which could potentially explain the metabolic features of GHD, while GH treatment (GHT) could increase the cortisol metabolism. Methods In 35 children (27 M, mean age 10.1 years) with idiopathic GHD at baseline and after 12 months of GHT and in 25 controls, in addition to metabolic parameters, we assessed adrenal function by morning serum cortisol, its peak, and its area under the curve (AUCCOR) during insulin tolerance test (ITT). Results A cortisol peak <18 µg/dl was shown in 22 and 31% of GHD children at baseline and after GHT, respectively. At baseline, GHD children had lower fasting …

Revaluation of the clinical and metabolic behavior of children with isolated growth hormone deficiency during GH treatment according to newly propose…

2015

Purpose To evaluate the clinical and metabolic behavior of children with isolated growth hormone (GH)-deficiency (GHD), grouped according to the new AIFA criteria for the appropriateness of use and reimbursement of GH treatment in children. Methods The clinical and metabolic data of 310 prepubertal children (220 M, 90 F; mean age 10.8 years) grouped, according to new AIFA note 39, into group A (No 181 with a peak of GH 10 µg/L) were retrospectively analyzed. Group A and B, diagnosed as having GHD, were treated with GH for at least 24 months, while group C was analyzed only at baseline. Results At baseline, group A showed higher waist circumference than B (p=0.031) and C (p=0.041), while no …

Osteodysplastic primordial dwarfism (ODPD): notes on brain imaging

1998

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.

2016

Cellular organelles provide opportunities to relate biological mechanisms to disease. Here we use affinity proteomics, genetics and cell biology to interrogate cilia: poorly understood organelles, where defects cause genetic diseases. Two hundred and seventeen tagged human ciliary proteins create a final landscape of 1,319 proteins, 4,905 interactions and 52 complexes. Reverse tagging, repetition of purifications and statistical analyses, produce a high-resolution network that reveals organelle-specific interactions and complexes not apparent in larger studies, and links vesicle transport, the cytoskeleton, signalling and ubiquitination to ciliary signalling and proteostasis. We observe sub…

Fostering Entrepreneurs’ Capabilities to Outline Sustainable Strategies in ‘Stunted’ SMEs through Modelling and Simulation: a Dynamic Resource Based …

The literature recognises the phenomenon of ‘dwarf’ or ‘stunted’ small and micro firms (in Italian nanismo aziendale) and that they might represent potential lost opportunities for owners and the local economy. Based on a field survey conducted by Bianchi et al. (2003) and the analysis previously developed by the authors of this paper in sketching a simple ‘insight’ model to simulate the behaviour of such firms (Bianchi &amp; Winch, 2005), this work aims to show further research developments in the effort to better understand the business dwarfism phenomenon. A system dynamics model replicating the basic no-growth, cyclical behaviour attributed to “stunted” SMEs is firstly analysed. Alterna…

Structural Growth Disengagement and value creation in small and micro-firms. Mapping pathologies and physiologies of business dwarfism in a dynamic r…

This paper focuses growth disengagement, in the perspective of those firms who have been keeping their structures, processes and relational systems unchanged for a very long time. The implicit hypothesis according to which such businesses are affected by a structural disease, are not able to create any significant value, and characterised by similar features, is critically discussed. Through an analysis of the phenomenon in the business growth and dynamic resource-based-view, a first attempt taxonomy, based on case-studies, is sketched. It is demonstrated how the implicit assumption according to which such firms are affected by a pathological condition is false, at least if seen as an a pri…