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.

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.

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.

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.

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.

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.

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.

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.

Array comparative genomic hybridization and cytogenetic analysis in pediatric acute leukemias.

Most patients with acute lymphocytic leukemia (all) are reported to have acquired chromosomal abnormalities in their leukemic bone marrow cells. Many established chromosome rearrangements have been described, and their associations with specific clinical, biologic, and prognostic features are well defined. However, approximately 30% of pediatric and 50% of adult patients with all do not have cytogenetic abnormalities of clinical significance. Despite significant improvements in outcome for pediatric all, therapy fails in approximately 25% of patients, and these failures often occur unpredictably in patients with a favorable prognosis and "good" cytogenetics at diagnosis.It is well known that karyotype analysis in hematologic malignancies, although genome-wide, is limited because of altered cell kinetics (mitotic rate), a propensity of leukemic blasts to undergo apoptosis in culture, overgrowth by normal cells, and chromosomes of poor quality in the abnormal clone. Array comparative genomic hybridization (acgh-"microarray") has a greatly increased genomic resolution over classical cytogenetics. Cytogenetic microarray, which uses genomic dna, is a powerful tool in the analysis of unbalanced chromosome rearrangements, such as copy number gains and losses, and it is the method of choice when the mitotic index is low and the quality of metaphases is suboptimal. The copy number profile obtained by microarray is often called a "molecular karyotype."In the present study, microarray was applied to 9 retrospective cases of pediatric all either with initial high-risk features or with at least 1 relapse. The conventional karyotype was compared to the "molecular karyotype" to assess abnormalities as interpreted by classical cytogenetics. Not only were previously undetected chromosome losses and gains identified by microarray, but several karyotypes interpreted by classical cytogenetics were shown to be discordant with the microarray results. The complementary use of microarray and conventional cytogenetics would allow for more sensitive, comprehensive, and accurate analysis of the underlying genetic profile, with concomitant improvement in prognosis and treatment, not only for pediatric all, but for neoplastic disorders in general.

Canadian College of Medical Geneticists guidelines for the indications, analysis, and reporting of cancer specimens.

The Canadian College of Medical Geneticists (ccmg) is a national organization of medical and laboratory geneticists. The mission of the ccmg is to establish and maintain high-quality professional and ethical standards for medical genetics services in Canada and to help to ensure that service of the highest quality is delivered to the Canadian public.Cancer cytogenetics is one of the sections of practice of the ccmg. The ccmg Cytogenetic Committee has, therefore, put forward guidelines to provide oncologists and ccmg cytogeneticists with a comprehensive review of the cytogenetic diagnostic tests that are recommended as a minimum standard of care for tumours of hematopoietic and lymphoid tissues and for tumours of soft tissue and bone. The guidelines were approved by the ccmg board of directors in June 2010.

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).

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.

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.

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.