Search results for " Dwarfism"

Generalising Theories Explaining the Different Modes of SME Development and the Associated Growth Trajectories

2010

Previous research has identified two forms of “abnormal” growth – styled as business dwarfism and gigantism - which can both lead to missed opportunities for owners/entrepreneurs and local economies, and even to business crisis and collapse. It has also shown that stunted and inflated growth phenomena, rather than being characterised by completely different rules and rationales, are closely related and that certain fundamental structures and processes underpin both those forms of ab-normal company growth behaviour. This paper reports an examination of a further SME phenomenon – what we have chosen to call "micro-giants". These are companies that would be categorised as rela-tively small fir…

Adherence to growth hormone (GH) therapy in naïve to treatment GH-deficient children: data of the Italian Cohort from the Easypod Connect Observation…

2019

Background: With the use of non-objective measurement, adherence to growth hormone (GH) therapy has been reported suboptimal in a large proportion of patients, and poor adherence has been shown to affect short-term growth response in patients receiving GH treatment. Objective: The Easypod™ electronic device allows objective measurement of adherence. In this study, we report 3-year prospective adherence data of the Italian cohort of naïve GH deficient (GHD) children extrapolated from the Easypod Connect Observational Study (ECOS) database. Patients and methods: Seventy-three GHD children naïve to GH treatment were included in the analysis. 22 Italian centers participated in the study. Result…

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

2016

Item does not contain fulltext Verheij syndrome, also called 8q24.3 microdeletion syndrome, is a rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay (DD), cardiac and renal defects and dysmorphic features. Recently, PUF60 (Poly-U Binding Splicing Factor 60 kDa), which encodes a component of the spliceosome, has been discussed as the best candidate gene for the Verheij syndrome phenotype, regarding the cardiac and short stature phenotype. To date, only one patient has been reported with a de novo variant in PUF60 that probably affects function (c.505C>T leading to p.(His169Tyr)) associated wi…

A Physiological Approach to Analysing SME Growth Patterns and to Understanding the Distinctions and Similarities between Normal and Abnormal Growth

2010

Building on earlier work on abnormal SME growth trajectories, this paper investigates to what extent the analysis can be extended to the study of an unusual but “normal” growth pattern. The detailed case histories of two firms which might be called micro-giants are presented. These are companies that would be categorised as small firms but are actually competing, and competing successfully, in non-niche markets with much larger firms, or even multinational giants. The resource based view and modelling approaches developed in the earlier non-normal growth situations is then applied to these cases. It is argued that by viewing the management of strategic assets as part of the normal business …

Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism?

1996

A new type of osteodysplastic primordial dwarfism is delineated in a 5- year-old female child with severe growth retardation of prenatal onset, gross skeletal changes, a non-Seckel facial phenotype, and presumed autosomal recessive inheritance.

Osteodysplastic primordial dwarfism (ODPD): notes on brain imaging

1998

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 & 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…

LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.

2019

Abstract Alazami syndrome (AS) (MIM# 615071 ) is an autosomal recessive microcephalic primordial dwarfism (PD) with recognizable facial features and severe intellectual disability due to depletion or loss of function variants in LARP7. To date, 15 patients with AS have been reported. Here we describe two consanguineous Algerian sisters with Alazami PD due to LARP7 homozygous pathogenic variants detected by whole exome sequencing. By comparing these two additional cases with those previously reported, we strengthen the key features of AS: severe growth restriction, severe intellectual disability and some distinguishing facial features such as broad nose, malar hypoplasia, wide mouth, full li…

Progenitor death drives retinal dysplasia and neuronal degeneration in a mouse model of Atrip-Seckel syndrome

2020

ABSTRACT Seckel syndrome is a type of microcephalic primordial dwarfism (MPD) that is characterized by growth retardation and neurodevelopmental defects, including reports of retinopathy. Mutations in key mediators of the replication stress response, the mutually dependent partners ATR and ATRIP, are among the known causes of Seckel syndrome. However, it remains unclear how their deficiency disrupts the development and function of the central nervous system (CNS). Here, we investigated the cellular and molecular consequences of ATRIP deficiency in different cell populations of the developing murine neural retina. We discovered that conditional inactivation of Atrip in photoreceptor neurons …

Isolated childhood growth hormone deficiency: a 30-year experience on final height and a new prediction model

2022

Purpose We aimed to evaluate the near-final height (nFHt) in a large cohort of pediatricpatients with growth hormone deficiency (GHD) and to elaborate a new predictive method of nFHt. Methods We recruited GHD patients diagnosed between 1987 and 2014 and followed-up until nFHt. To predict the values of nFHt, each predictor was run in a univariable spline. Results We enrolled 1051 patients. Pre-treatment height was -2.43 SDS, lower than parental height (THt) (-1.09 SDS, p < 0.001). The dose of recombinant human GH (rhGH) was 0.21mg/kg/week at start of treatment. nFHt was -1.08 SDS (height gain 1.27 SDS), higher than pre-treatment height (p < 0.001) and comparable to THt. 1.6% of the pat…