Search results for "Dwarfism"
showing 10 items of 40 documents
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…
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 …
Could growth hormone play a role in Peutz Jeghers syndrome?
2013
Convincing experimental data suggest that the growth hormone (GH)/insulin-like growth factor-1(IGF-1) axis plays an important role in cancer development and behaviour. Epidemiological studies have supported an association with cancer, but not with tumour induction per se, although this is a distinction that is important mechanistically but not clinically [1]. We report the case of a 17-year-old man with delayed growth of pituitary origin, treated with growth hormone, in whom a diagnosis of Peutz-Jeghers syndrome (PJS) was subsequently made, and in whom, during the endoscopic follow-up, the number of polyps reduced dramatically, thus suggesting a role for GH in eliciting this disease.
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 …
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.
The effect of nacom (L-dopa and L-carbidopa) on growth hormone secretion in 75 patients with short stature.
1977
The stimulatory effect of Nacom (250 mg L-Dopa and 25 mg L-Carbidopa) on the HGH secretion was evaluated in 75 short stature patients. The number of blood samples was restricted to only three (0, 45 and 90 min). 63 patients reached adequate HGH concentrations after the ingestion of 1 tablet Nacom (84%). Somatotropin levels increased from 2.08 (Sx 0.28) to a maximal HGH value of 14.22 (Sx 0.87) ng/ml. When the stimulatory effect of Nacom was compared with the standard method of arginine infusion in children with normal stature the arginine test was not superior to the Nacom-test. The Nacom-test appears to be a simple and reliable screening method for HGH deficiency, particularly in outpatien…
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…
A rare form of spondylometaphyseal dysplasia-type A4
1998
We present 2 cases of a previously apparently unreported spondylo-metaphyseal dysplasia comprising dwarfism, severe metaphyseal changes, ovoid vertebrae and mild platyspondyly with anterior tonguing of the vertebral bodies. The inheritance may be autosomal recessive.
“Cola u’ Nanu”: an early nineteenth century case of disproportionate small stature
2022
This report considers Cola “u’ Nanu” (Cola the Dwarf) (Fig. 1) who was depicted in 1840 by the famous nineteenth century Sicilian painter Michele Panebianco (1806–1873).
Management Simulator as an Instrument to Aid Turning “Stunted Growth” Round in Family Businesses
2008
This paper is the fourth in a series which has described the role and construction of simulation models and a ‘Management Flight Simulator’ that could aid the entrepreneur-owners of so-called ‘dwarf’ or ‘stunted growth’ small firms to break out from the constraints holding them back. While the research presented to date has highlighted the issues in such companies, and has suggested that in many situations relatively simple changes only might be needed to unleash the growth potential of such firms, effecting such changes is not likely to be that “simple” in real life. It has to be possible for affected owner-entrepreneurs to understand a number of factors: that there is a problem (or opport…