Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr.

Craniosynostosis is the premature fusion of one or more sutures of the skull, which can be syndromic or isolated. Mutations in FGFR1, FGFR2, or FGFR3, among others, are often responsible for these syndromic cases. The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the common p.

Outcome measurement tools currently used to assess pediatric burn patients: an occupational therapy and physiotherapy perspective.

Given the high incidence of burn injuries in children, it is important that all clinicians involved in the care of these patients, including occupational therapists and physiotherapists, are able to assess patients with valid, sensitive, and reliable measurement tools to optimize outcomes and clinical management. The aims of this study were to identify therapist- relevant outcome measurement tools that have been previously used with pediatric burn patients and to ascertain the outcome measurement tools currently used by occupational therapists and physiotherapists working in pediatric burns units. A literature review was undertaken to identify therapist-relevant outcome measurement tools that have been used in the pediatric burn population.

Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height.

Height is a highly heritable trait that involves multiple genetic loci. To identify causal variants that influence stature, we sequenced whole exomes of four children with idiopathic short stature. Ninety-five nonsynonymous single-nucleotide polymorphisms (nsSNPs) were selected as potential candidate variants.

Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations.

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by isolated glucocorticoid deficiency. Mutations in the ACTH receptor (melanocortin 2 receptor, MC2R) or the MC2R accessory protein (MRAP) cause FGD types 1 and 2, respectively. A 2-year-old adopted Chinese girl presented with hypertonic seizures associated with hypoglycemia, skin hyperpigmentation, muscle weakness and mild jaundice.

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.

We report the clinical and molecular characteristics of 12 Spanish families with multiple members affected with Léri-Weill dyschondrosteosis (LWD) or Langer mesomelic dysplasia (LMD), who present the SHOX (short stature homeobox gene) mutation p.A170P (c.508G>C) in heterozygosity or homozygosity, respectively.

Potential dangers of accelerant use in arson.

Accelerant-enhanced combustion often characterizes a fire that has been deliberately set to disguise a murder scene or to destroy property for insurance purposes. The intensity and rapidity of spread of fires where accelerants have been used are often underestimated by perpetrators who may sustain heat-related injuries. The case of a 49-year-old male who was using gasoline (petrol) as an accelerant is reported to demonstrate another danger of this type of activity.

Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).

Context: Léri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia characterized by disproportionate short stature and the Madelung deformity of the forearm. SHOX mutations and pseudoautosomal region 1 deletions encompassing SHOX or its enhancers have been identified in approximately 60% of LWD and approximately 15% of idiopathic short stature (ISS) individuals. Recently SHOX duplications have been described in LWD/ISS but also in individuals with other clinical manifestations, thus questioning their pathogenicity.

Mutualism variation in the nodulation response to nitrate.

The evolution of mutualisms under novel selective pressures will play a key role in ecosystem responses to environmental change. Because fixed nitrogen is traded in plant–rhizobium mutualisms, increasing N availability in the soil is predicted to alter coevolution of these interactions. Legumes typically decrease the number of associations (nodules) with rhizobia in response to nitrate, but the evolutionary dynamics of this response remain unknown.

Evaluation of laboratory methods for diagnosis of varicella.

Background: The incidence of varicella disease is declining as a result of vaccination, making clinical diagnosis more challenging, particularly for vaccine-modified cases. We conducted a comprehensive evaluation of laboratory tests and specimen types to assess diagnostic performance and determine what role testing can play after skin lesions have resolved.

Methods: We enrolled patients with suspected varicella disease in 2 communities.

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.

Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by macroglossia, macrosomia, and abdominal wall defects. It is a multigenic disorder caused in most patients by alterations in growth regulatory genes. A small number of individuals with BWS (5-10%) have mutations in CDKN1C, a cyclin-dependent kinase inhibitor of G1 cyclin complexes that functions as a negative regulator of cellular growth and proliferation.

Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri-Weill dyschondrosteosis (LWD).

Léri-Weill dyschondrosteosis (LWD, MIM 127300), is a dominantly inherited skeletal dysplasia with disproportionate short stature, mesomelic limb shortening, and the characteristic Madelung deformity. Two regions of the pseudoautosomal region 1 (PAR1) have been shown to be involved in LWD, SHOX (short-stature homeobox-containing gene) and the downstream enhancer region. We report our genetic findings of a young girl clinically diagnosed with LWD.

Intergenomic epistasis and coevolutionary constraint in plants and rhizobia.

Studying how the fitness benefits of mutualism differ among a wide range of partner genotypes, and at multiple spatial scales, can shed light on the processes that maintain mutualism and structure coevolutionary interactions. Using legumes and rhizobia from three natural populations, I studied the symbiotic fitness benefits for both partners in 108 plant maternal family by rhizobium strain combinations. Genotype-by-genotype (G x G) interactions among local genotypes and among partner populations determined, in part, the benefits of mutualism for both partners; for example, the fitness effects of particular rhizobium strains ranged from uncooperative to mutualistic depending on the plant family.

Aligning clinical resources to curriculum needs: the utility of a group of teaching hospitals.

This article describes a study in two acute NHS Trusts of the availability and curriculum relevance of inpatients for undergraduate medical student learning. The study was conducted to assist a new medical school plan on how best to utilise the clinical learning resources of adjacent hospitals, at a time when basic medical education is expanding, large academic hospitals are becoming more specialised and medical care provision is shifting to smaller hospital and ambulatory settings. We found that all three hospitals showed similar proportions, mean ages and gender ratios of available patients, and provided a wide range of clinical learning opportunities.

Sudden death and the forensic evaluation of neurocutaneous syndromes.

On occasion the forensic evaluation of individuals who have died suddenly and unexpectedly may reveal intracranial vascular abnormalities such as capillary, venous- and arteriovenous malformations. Such vascular abnormalities may form part of a heterogeneous group of disorders called neurocutaneous syndromes and involve the skin, nervous system and other organ systems. These unusual conditions include Sturge-Weber, Osler-Weber-Rendu, Klippel-Trenaunay, Von Hippel-Lindau, Proteus and Wyburn-Mason syndromes in addition to ataxia telangiectasia.

Polymorphic genes of major effect: consequences for variation, selection and evolution in Arabidopsis thaliana.

The importance of genes of major effect for evolutionary trajectories within and among natural populations has long been the subject of intense debate. For example, if allelic variation at a major-effect locus fundamentally alters the structure of quantitative trait variation, then fixation of a single locus can have rapid and profound effects on the rate or direction of subsequent evolutionary change. Using an Arabidopsis thaliana RIL mapping population, we compare G-matrix structure between lines possessing different alleles at ERECTA, a locus known to affect ecologically relevant variation in plant architecture.

CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith-Wiedemann Syndrome (BWS) patients.

Preeclampsia is the development of new-onset hypertension with proteinuria after 20 weeks of gestation. HELLP syndrome (haemolysis, elevated liver enzymes, and low platelet count) is a severe form of preeclampsia with high rates of neonatal and maternal morbidity. In recent years, loss of function of cdkn1c (a tight-binding inhibitor of G1 cyclin/cyclin-dependent kinase complexes and a negative regulator of cell proliferation) has been observed in several mouse models of preeclampsia.

Early motherhood, high mortality, and HIV/AIDS rates in Sub-Saharan Africa.

Despite billions of dollars devoted to HIV/AIDS prevention since 1990, rates of infection continue to climb worldwide, primarily through heterosexual contact, and Sub-Saharan Africa is the worst case scenario (UNAIDS, 2004). Traditional intervention programs based on the ABCs (abstinence, being faithful, and condom use) of safe sex practices have shown mixed success. Engaging in risky sexual behavior (behaviors not adhering to the ABCs of safe sex practices) continues to escalate the HIV/AIDS epidemic.

Mesenteric fibrosis--a histologic marker of previous blunt abdominal trauma in early childhood.

A girl aged 21 months and a boy aged 3 years both died of hemorrhage from intestinal and mesenteric lacerations due to inflicted blunt abdominal trauma. Histologic examination of sections from the areas of duodenal and mesenteric lacerations confirmed changes of acute injury with hemorrhage, acute inflammatory infiltrates, and surface fibrin deposition. In addition, in both cases, there was also evidence of much longer-standing trauma with mesenteric fibrosis and hemosiderin-containing macrophages (the latter in keeping with previous hemorrhage).

The cuff leak test is not predictive of successful extubation.

In intubated patients the presence of a cuff leak (CL) is used as a predictor of successful extubation. CL is proposed to indicate laryngeal edema and predict which patients may develop complications such as postextubation stridor and eventual reintubation. Our objective was to evaluate the reliability of CL in our population of critically ill trauma patients.

Stabilizing mechanisms in a legume-rhizobium mutualism.

Preferential rewarding of more beneficial partners may stabilize mutualisms against the invasion of less beneficial, that is cheater, genotypes. Recent evidence suggests that both partner choice and sanctioning may play roles in preventing the invasion of less-beneficial rhizobia in legume-rhizobium mutualisms. The importance of these mechanisms in natural communities, however, remains unclear.

Discordant longitudinal clines in flowering time and phytochrome C in Arabidopsis thaliana.

Using seasonal cues to time reproduction appropriately is crucial for many organisms. Plants in particular often use photoperiod to signal the time to transition to flowering. Because seasonality varies latitudinally, adaptation to local climate is expected to result in corresponding clines in photoperiod-related traits.