Skin Lesions as a Presenting Feature of Dimorphic T-Lymphoblastic Leukemia in an Adolescent Male.

Cutaneous involvement is rare in acute lymphoblastic leukemia/lymphoma, particularly within the T-cell lineage. Review of the literature for cutaneous involvement in T-cell lymphoblastic lymphoma/leukemia identifies mostly case reports, with the majority of cases involving adults. We describe an adolescent male presenting with cervical lymphadenopathy and skin lesions leading to a diagnosis of early T-cell precursor lymphoblastic leukemia. Unique to this case is the age of the patient, presence of a dimorphic blast population, and the skin lesions preceding other signs of disease by at least 1 month.

Approaches to improving the contribution of the nursing and midwifery workforce to increasing universal access to primary health care for vulnerable populations: a systematic review.

BACKGROUND: Despite considerable evidence showing the importance of the nursing and midwifery workforce, there are no systematic reviews outlining how these cadres are best supported to provide universal access and reduce health care disparities at the primary health care (PHC) level. This review aims to identify nursing and midwifery policy, staffing, education and training interventions, collaborative efforts and strategies that have improved the quantity, quality and relevance of the nursing and midwifery workforce leading to health improvements for vulnerable populations. METHODS: We undertook a structured search of bibliographic databases for peer-reviewed research literature using a focused review question and inclusion/exclusion criteria. The quality of retrieved papers was appraised using standard tools. The characteristics of screened papers were described, and a deductive qualitative content analysis methodology was applied to analyse the interventions and findings of included studies using a conceptual framework. RESULTS: Thirty-six papers were included in the review, the majority (25) from high-income countries and nursing settings (32). Eleven papers defined leadership and governance approaches that had impacted upon the health outcomes of disadvantaged groups including policies at the national and state level that had led to an increased supply and coverage of nursing and midwifery staff and scope of practice. Twenty-seven papers outlined human resource management strategies to support the expansion of nurse's and midwives' roles that often involved task shifting and task sharing. These included approaches to managing staffing supply, distribution and skills mix; workloads; supervision; performance management; and remuneration, financial incentives and staffing costs. Education and training activities were described in 14 papers to assist nurses and midwives to perform new or expanded roles and prepare nurses for inclusive practice. This review identified collaboration between nurses and midwives and other health providers and organizations, across sectors, and with communities and individuals that resulted in improved health care and outcomes. CONCLUSIONS: The findings of this review confirm the importance of a conceptual framework for understanding and planning leadership and governance approaches, management strategies and collaboration and education and training efforts to scale up and support nurses and midwives in existing or expanded roles to improve access to PHC for vulnerable populations.

Polycystic ovary syndrome has no independent effect on vascular, inflammatory or thrombotic markers when matched for obesity.

INTRODUCTION: Previous studies investigating cardiovascular (CV) risk in obese women with polycystic ovary syndrome (PCOS) have been potentially confounded by not adequately accounting for body weight. OBJECTIVE: To assess if PCOS increases CV risk independently in young obese women by examining carotid intima-media wall thickness (cIMT) and platelet function. DESIGN: A case-control study comparing women with PCOS (n = 21) to age (32·8 ± 7·2 vs 33·5 ± 6·7 years), and weight (100·9 ± 16·7 vs 99·3 ± 14·7 kg)-matched controls (n = 19). Platelet function was examined by flow cytometry, clot structure and fibrinolysis by turbidimetric assays and endothelial function by ELISA and post ischaemic reactive hyperaemia. RESULTS: The PCOS group had higher testosterone 1·2 ± 0·3 vs 0·9 ± 0·3 nmol/l (P = 0·01), HOMA-IR 2·5 ± 1·7 vs 1·7 ± 1·0 (P = 0·08), impaired glucose regulation 33·3% vs 5·3% (P = 0·02), and urinary isoprostane 16·0 ± 4·4 vs 11·8 ± 7·1 ng/ml (P = 0·04) compared to controls. Mean cIMT 0·5 ± 0·05 vs 0·48 ± 0·06 mm (P = 0·36), and basal platelet surface expression (percentage of positive cells) of P-selectin 0·52 ± 0·3 vs 0·43 ± 0·23 (P = 0·40) and fibrinogen binding 0·97 ± 0·4 vs 0·83 ± 0·3 (P = 0·48) did not significantly differ between the PCOS and control groups respectively. Furthermore, platelets sensitivity to stimulation with adenosine-5'-diphosphate or inhibition with prostacyclin, clot structure and fibrinolytic efficiency ex vivo, endothelial reactive hyperaemic index (RHI), inflammation (hsCRP) and adhesion markers (sE-selectin, sP-selectin, sVCAM-1 and sICAM-1) were not significantly different between the two groups. CONCLUSIONS: PCOS appeared not to independently increase atherothrombotic risk when matched for obesity. It is likely that any excess CV risk in young obese women with PCOS can either be attributed to obesity or is not yet apparent at this early stage of the condition.

Biological variation of cardiovascular risk factors in patients with diabetes.

Biological variation refers to the natural fluctuations found when repeated measurements are made in a biological system. Generally, biological variation remains within narrow boundaries in health, but may differ in pathological states, with implications for the diagnosis and monitoring of disease processes. In disease, biological variation may alter such that any subsequent measurement may need to have a greater difference compared with a healthy control to be biologically relevant. Treatments such as insulin or anti-hypertensive therapy have been shown to reduce biological variability closer to normal levels and theoretically this may help prevent complication development or progression in conditions such as diabetes. This article reviews how biological variation can influence our identification and assessment of vascular risk factors in a person with diabetes. The role of biological variation in the diagnosis of diabetes (glucose and HbA1c) is then examined. Finally, the influence that common treatments in diabetes have in modifying biological variation is described.

Association of ultrasonic texture and echodensity features between sides in patients with bilateral carotid atherosclerosis.

OBJECTIVES: Our objective was to estimate the correlation of echodensity and textural features, using ultrasound and digital image analysis, between plaques in patients with bilateral carotid stenosis. DESIGN: Cross-sectional observational study. METHODS: Patients undergoing carotid endarterectomy were recruited from Vascular Surgery at the Royal Victoria and Jewish General hospitals in Montreal, Canada. Bilateral pre-operative carotid ultrasound and digital image analysis was performed to extract echodensity and textural features using a commercially available Plaque Texture Analysis software (LifeQMedical Ltd). Principal component analysis (PCA) was performed. Partial correlation coefficients for PCA and individual imaging variables between surgical and contralateral plaques were calculated with adjustment for age, sex, contralateral stenosis, and statin use. RESULTS: In the whole group (n = 104), the six identified PCA variables and 42/50 individual imaging variables were moderately correlated (r = .211-.641). Correlations between sides were increased in patients with ≥50% contralateral stenosis and symptomatic patients. CONCLUSION: Textural and echodensity features of carotid plaques were similar between two sides in patients with bilateral stenosis, supporting the notion that plaque instability is determined by systemic factors. Patients with unstable features of one plaque should perhaps be monitored more closely or treated more aggressively for their contralateral stenosis, particularly if this is hemodynamically significant.

Origin of a prenatal mosaic supernumerary neocentromeric derivative chromosome 13 determined by QF-PCR.

Neocentromeres are mitotically stable human derivative centromeres without alpha-satellite DNA which are able to provide stability to rearranged chromosome fragments that would otherwise be acentric and rapidly lost. A female fetus was found to be mosaic for a supernumerary marker chromosome: 47,XX,+mar[3]/46,XX[36]. The marker was identified by fluorescence in situ hybridization and G-band as an inversion duplication of 13q21→13qter, with a neocentromere present at 13q21, in approximately 9% of colonies examined. Parental blood karyotypes were normal. QF-PCR performed on blood samples from both parents and the second amniotic fluid sample showed evidence of a second maternal allele at markers D13S258 (13q21) and D13S628 (13q31-q32), indicating formation at maternal meiosis I/II. This is the first reported case where the detection and origin of a low-level mosaic prenatal neo(13) were confirmed by QF-PCR.

Risk factors for inpatient hospital admission following isolated orbital floor fractures.

Orbital floor fractures are common injuries seen in the emergency department (ED). In this study, the National Trauma Data Bank (NTDB, 2016-2017) was used to identify patients presenting with isolated orbital floor trauma. Patient-specific factors were analyzed to determine associations with management. The sample comprised 912 patients; 285 (31.3%) of these patients were discharged from the ED, 541 (59.3%) were admitted to the hospital but did not undergo an operation, and 86 (9.4%) underwent operative treatment. Pediatric patients and older patients (<18 years and>55 years) were more likely to be admitted than those aged 18-55 years, and pediatric patients were more likely to undergo an urgent operative intervention than those in the other age groups (all P < 0.001). Patients with alcohol use disorder (P = 0.002) and hypertension (P = 0.004) had increased odds of admission. Private and Medicare insurance patients were more likely to be admitted, and self-pay patients less likely (P < 0.001). Older age and Medicaid payor status showed increased odds of a greater hospital length of stay. Biological sex, race/ethnicity, functionally dependent health status, myocardial infarction, steroid use, and substance use disorder were not associated with discharge disposition. There are non-injury related, patient-specific factors that may influence the management of orbital floor fractures.

CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy.

The aim of this statement is to provide clinicians, cytogeneticists and molecular geneticists of the Canadian College of Medical Geneticists (CCMG) a comprehensive review of the role of UPD in constitutional genetic diagnosis and to provide a guideline as to when investigation for UPD is recommended. Members of the CCMG Cytogenetics, Molecular Genetics, Clinical Practice, and Prenatal Diagnosis committees reviewed the relevant literature on uniparental disomy (UPD) in constitutional genetic diagnosis (May 2010). Guidelines were developed for UPD testing in Canada. The guidelines were circulated for comment to the CCMG members at large and following appropriate modification, approved by the CCMG Board of Directors (July 2010).

Molecular cytogenetic investigation of two patients with Y chromosome rearrangements and intellectual disability.

We describe two males with intellectual disability (ID) and facial dysmorphism, both of whom have non-mosaic Y chromosome rearrangements resulting in deletions of large portions of the Y chromosome. Patient A, with ID, mild dysmorphism, speech delay, Duane anomaly of the eye, hypermetropia and conductive hearing loss, had two structurally rearranged Y chromosomes resulting in both p and q arm deletions in addition to a Yp duplication. Patient B, also with speech and language delay, developmental delay and short stature, had an interstitial deletion of Yq11.21-11.23. Array-CGH excluded the presence of additional submicroscopic rearrangements at the 1 Mb resolution level. A review of males with Y chromosome rearrangements and ID was performed. Our study provides a more detailed molecular cytogenetic assessment of Y rearrangements in individuals with ID than has been previously possible, and facilitates assessment and comparison of other individuals with a Y chromosome rearrangement.

Trends in indications for caesarean sections over 7 years in a Welsh district general hospital.

The National Sentinel Caesarean Section (CS) Audit showed that the overall CS rate was 21.5% in England and Wales. There have been concerns about the rising CS rate in the UK. We reviewed whether there were any changes in indications for CS over 7 years (2001-2007) in our district general hospital. A database was written and used to record data about each CS, electronically. A library of entries was used to record the indications for all caesarean sections. The data were analysed by each of the years from 2001 to 2007. The overall CS rate in the hospital was nearly 30% in 2007, a rise from 26% in 2001. The commonest indication was previous single CS, followed by other indications: failure-to-progress during the first stage of labour, fetal distress and breech presentation. Over the 7-year period, we have been unable to show any real change in the proportions of indications for CS. Despite heightened awareness and regular feedback, there has been no detectable reduction in CS rates. They appear instead to have increased with no change in the proportions of indications.

Seeing, thinking and acting against Malaria: a new approach to health worker training for community empowerment in rural Gambia.

CONTEXT: In the Gambia, West Africa, Malaria is a major cause of death among children in rural areas. It has been estimated that in one division in the country malaria accounts for 40% of all deaths in children aged between one and 4 years. Most malaria cases are managed at home assisted by primary healthcare workers. The strategic plan of Gambia's National Malaria Control Programme includes improved training and supervision of all health care providers, at all levels, and increased community awareness in order to reduce the malaria burden by 50% before 2007. ISSUE: A malaria in-service training program for Community Health Nurses (CHNs) working at village level was piloted in 2004. The program includes a computer-based training (CBT) package, the first of its kind for health professionals in Gambia. The education program is part of a larger initiative funded by the Gates Malaria Partnership, that aims to increase community involvement in malaria control. The objective of the course is to enable CHNs to facilitate the change process. The curriculum was informed by a reference group and stakeholder input. Interviews and evaluation forms were used to gather information about learner experience and learning preferences. ANALYSIS: The CBT package was well received. Learners reported wanting more computer instruction, but felt they had gained confidence. There was resistance from other health professionals regarding the development of information technology skills in CHNs. This related to the perceived role and status of CHNs, as well as confidence in their ability. Some modifications of the CBT package were necessary, including the reworking of some activities and language. LESSONS LEARNED: There are issues related to sustainability and resource implications that need to be addressed. Opportunities exist to expand e-learning in the Gambia for pre-service CHNs and other professionals. An investigation into the viability of reproducing this module as a generic planning tool for allied health workers and other extension workers at community level will be undertaken.

Midwives' experiences of caring for women with female genital mutilation: Insights and ways forward for practice in Australia.

BACKGROUND: Female genital mutilation (FGM) has serious health consequences, including adverse obstetric outcomes and significant physical, sexual and psychosocial complications for girls and women. Migration to Australia of women with FGM from high-prevalence countries requires relevant expertise to provide women and girls with FGM with specialised health care. Midwives, as the primary providers of women during pregnancy and childbirth, are critical to the provision of this high quality care. AIM: To provide insight into midwives' views of, and experiences working with, women affected by FGM. METHODS: A descriptive qualitative study was undertaken using focus group discussions with midwives from four purposively selected antenatal clinics and birthing units in three hospitals in urban New South Wales. The transcripts were analysed thematically. FINDINGS: Midwives demonstrated knowledge and recalled skills in caring for women with FGM. However, many lacked confidence in these areas. Participants expressed fear and a lack of experience caring for women with FGM. Midwives described practice issues, including the development of rapport with women, working with interpreters, misunderstandings about the culture of women, inexperience with associated clinical procedures and a lack of knowledge about FGM types and data collection. CONCLUSION: Midwives require education, training and supportive supervision to improve their skills and confidence when caring for women with FGM. Community outreach through improved antenatal and postnatal home visitation can improve the continuity of care provided to women with FGM.

Regenerating optic fibers correct large-scale errors by random growth: evidence from in vivo imaging.

Regenerating optic fibers in goldfish make large-scale errors when they invade tectum and subsequently correct these to generate a projection with moderate retinotopic order by 1 month. The behavior of fibers underlying these extensive rearrangements is not well understood. To clarify this, we have imaged optic fibers in living adult goldfish at 2-4 weeks of regeneration. A small number of neighboring retinal ganglion cells were labeled with microinjections of DiI and imaged in the dorsal tectum with a cooled CCD camera on a fluorescence microscope for 5 to 8 hours. Nearly all fibers were simple unbranched processes and had endings that were highly dynamic showing both growth and retraction. Fibers from dorsal retina that normally innervate ventral tectum were frequently observed in dorsal tectum. These ectopic fibers oscillated more frequently between growth and retraction and retracted more often than ventral optic fibers. Like retinotopic fibers, ectopic fibers exhibited net growth but they showed no apparent directional preference toward their retinotopic position. In contrast, large errors along the anterior-posterior axis corresponding to nasal-temporal retina were rare and there was no differential behavior that distinguished these fibers.

Activity-dependent refinement in the goldfish retinotectal system is mediated by the dynamic regulation of processes withdrawal: an in vivo imaging study.

Imaging of regenerating optic fibers in living adult goldfish was used to visualize arbor restructuring during activity-dependent refinement. A small number of neighboring retinal ganglion cells were labeled with DiI and observed in the tectum of the living animal for 5-7 hours during the period of activity-dependent refinement. In contrast to earlier stages of regeneration, many optic arbors were surprisingly stable, showing little or no change. The observed changes were mainly retractions, and these were affected by retinotopic position and activity. Axon branches in retinotopic positions changed by much smaller amounts than ectopic axons, but in fish with retinal tetrodotoxin impulse blockade, no systematic difference was observed as a function of tectal position. Otherwise, impulse blockade had no notable effects.

Characteristics of nerve growth factor induced hyperalgesia in adult rats: dependence on enhanced bradykinin-1 receptor activity but not neurokinin-1 receptor activation.

Treatment of adult rats with a single dose of nerve growth factor (NGF, 1 mg/kg, i.p.) results in a prolonged hypersensitivity to noxious thermal stimulation which becomes noticeable within 30 min of administration and lasts for several days. A significant mechanical hyperalgesia develops within 7 h following injection of NGF and persists for up to 7 days. In the present set of experiments we describe certain quantitative features of this hyperalgesia. The initial thermal hyperalgesia can be highly variable and is associated to some degree with the presence of an overt immunologic reaction. The mechanical hyperalgesia is reproducible enough to reveal a clear dependency on the dose of NGF. We also examined the pharmacological properties of the NGF-induced hyperalgesia. The bradykinin BK1 receptor antagonist des-Arg9[Leu8]BK transiently blocked the thermal hyperalgesia when injected 1 day after NGF administration whereas mechanical thresholds were further reduced under this protocol. The BK2 antagonist HOE 140 had no effect on this late NGF-induced hyperalgesia. Injection of the neurokinin NK1 receptor antagonist CP-96345 or its inactive enantiomer CP-96344 one day after NGF both induced a transient block of NGF-induced thermal hyperalgesia indicating a non-specific effect rather than an action at NK1 receptors. This was confirmed by finding no reversal of NGF-induced hyperalgesia by RP67580, another NK1 receptor blocker. These results suggest upregulation and activation of BK1 but not NK1 receptors as an additional, probably peripheral, mechanism for the late phase of NGF-induced thermal hyperalgesia.

Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: an update.

A father and his 2 daughters were previously determined to carry a small, supernumerary marker chromosome [Chudley et al., 1983]. The origin of this marker could not be determined by standard cytogenetic techniques. In this study, fluorescence in situ hybridization (FISH) studies identified the marker chromosome as a pericentric derivative of chromosome 8. The father has low grade mosaicism for this marker and is phenotypically normal. Both daughters are non-mosaic and show developmental delays and somewhat differing clinical findings. The phenotypes of the 2 sisters are compared with those previously reported for supernumerary der(8) patients. This is the first report of familial transmission of a supernumerary der(8) marker chromosome.