Evaluation and audit in a paediatric disability service

Parental and professional responses to questionnaires evaluating a paediatric disability service are reported and the viability of auditing structural, process, and outcome aspects of clinical practice are discussed. Expectations of waiting time to first appointment (met for only 52% of consumers) illustrate structural issues. Process issues are reflected in consumer reactions to outreach work (for example, 94% of parents and 84% of professionals found this supportive). Outcome measures such as consumer satisfaction with the service (76% of consumers reported being 'very satisfied' and 20% 'fairly satisfied') suggest that service aims are being met. Good concurrence of service aims with consumer needs is indicated by parental reasons for referral (for example, 75% for diagnostic help, 73% for a better understanding of the disorder, 88% for practical help), referrers' reasons (for example, 55% for a second diagnostic opinion, 45% due to lack of local expertise), and reports from most other professionals involved with the case that a similar service was not provided locally.     

Bilateral simultaneous tubal sextuplets: pregnancy after in-vitro fertilization--embryo transfer following salpingectomy

The presence of a damaged tube has been suggested in recent studies to have a negative effect on in-vitro fertilization (IVF) outcome. Performing bilateral salpingectomy prior to IVF to maximize pregnancy rates may also result in unnecessary surgery. This case is also an example of the occurrence of interstitial pregnancy after salpingectomy. This unusual type of ectopic pregnancy must be kept in mind when evaluating a patient suspected of a possible early abnormal gestation after assisted reproductive technolologies.      

Endometrial fluid collection in women with hydrosalpinx after human chorionic gonadotrophin administration: a report of two cases and implications for management

The impact of hydrosalpinx (HSPX) on in-vitro fertilization (IVF) outcome has recently been the subject of intense debate. Most, but not all, studies have reported decreased implantation and pregnancy rates and increased early pregnancy loss in HSPX patients. This has led to prophylactic salpingectomies prior to IVF in HSPX patients despite the lack of any prospective studies to suggest that any improvement will occur. Women with HSPX constitute a heterogeneous population because some conceive easily with IVF while others do not until after surgical correction. HSPX also increases in size with ovarian stimulation, and can cause implantation failure by fluid reflux into the uterine cavity. Careful assessment of the endometrial lining is mandatory in HSPX to rule out fluid reflux from the HSPX. We present two case reports of patients whose HSPX enlarged with ovarian stimulation, causing fluid reflux into the uterine cavity which was only noted after human chorionic gonadotrophin (HCG) administration.      

Alcohol consumption and mortality in men with preexisting cerebrovascular disease

BACKGROUND: In counseling patients with a history of stroke, clinicians have limited information regarding the risks and benefits of alcohol consumption. OBJECTIVE: To examine the relationship between alcohol intake and risks of total and cardiovascular mortality in men with a history of stroke. METHODS: The study population consisted of 112 528 men from the enrollment cohort of the Physicians' Health Study, 1320 of whom reported a baseline history of stroke. Men provided self-reported data on alcohol consumption, which was classified into 1 of 4 categories: rarely or never drink, very light (<1 drink per week), light (1-6 drinks per week), or moderate (> or =1 drink per day). Cox proportional hazards models were used to assess the relative risks of mortality associated with alcohol consumption, after adjustment for major coronary risk factors. RESULTS: During a mean follow-up of 4(1/2) years, 369 men died, 267 of whom died of cardiovascular disease. Compared with men with a history of stroke who drank rarely or never, those with a very light to moderate alcohol intake had multivariate relative risks for total mortality of 0.88 (95% confidence interval [CI], 0.60-1.28), 0.64 (95% CI, 0.48-0.85), and 0.71 (95% CI, 0.54-0.94), respectively (P =.03 for trend); and relative risks for cardiovascular mortality of 0.89 (95% CI, 0.58-1.36), 0.56 (95% CI, 0.40-0.79), and 0.64 (95% CI, 0.46-0.88) P =.008 for trend). Compared with age-adjusted models, adjustment for major coronary risk factors did not significantly change risk estimates for total or cardiovascular mortality. CONCLUSIONS: These data indicate a possible inverse association between light to moderate alcohol intake and risks of total and cardiovascular mortality in men with a history of stroke. More data are needed to confirm or refute these results.     

Demographics and clinical features of elderly patients undergoing regular dialysis in Brazil

An increasing number of elderly people in renal support is expected in the coming years. The objective of this study was to report the clinical and socio-demographic data of end-stage renal disease (ESRD) adult patients undergoing regular dialysis treatment comparing elderly (≥65 years old) and non-elderly subjects using data from the Brazilian Dialysis Registry database. The regional distribution of the sample was Southeast (48.8%), South (33.7), Northeast (13.1%), Midwest (5.1%), and North (0.1%). A total of 18,030 patients were included in the analysis with elderly patients accounting for 29.5% of the sample. The elderly patients were predominantly male, white, retired, and literate. Elderly ESRD patients had a slightly higher frequency of undernourishment and a lower frequency of obesity than the non-elderly adults. A higher frequency of elderly patients were from the South and Southeast regions. The dialysis treatment of patients from both groups was predominantly funded by the public system, but the percent of non-public funding was higher for the elderly group. The most used initial access in the elderly was the central venous catheter and hemodialysis was the main modality at the beginning of treatment (93.2%), as well as during maintenance therapy (91.8%). Advanced age was associated with greater use of central venous catheter in the first dialysis session. The survival of the elderly on dialysis was lower than that of the non-elderly early in the course of dialysis and this difference increased over time. This is yet the largest national epidemiological study of elderly people on chronic dialysis.     

Endogenous peroxidase in the nuclear envelope and endoplasmic reticulum of human monocytes in vitro: association with arachidonic acid metabolism

The development of peroxidase (PO) reaction in the nuclear envelope (NE) and endoplasmic reticulum (ER) of monocytes differentiating in vitro and its relationship with arachidonic acid metabolism were studied. The PO, as visualized by the diaminobenzidine (DAB) technique, appeared in the NE and ER of the majority of monocytes within 24 hours of culture, with a substantial decrease thereafter. The influence of three major groups of agents--inhibitors of PO, of prostanoids, and of protein biosynthesis--upon the development of the PO reaction was examined. When aminotriazole, a PO inhibitor, was added to the culture medium, the appearance of PO was suppressed in the monocytes. The cyclooxygenase blocker, indomethacin, however, did not influence the development of PO. Also the blockers of protein synthesis, puromycin, cycloheximide, and actinomycin D, did not affect the appearance of PO. The prostanoids released from the monocytes, ie, prostaglandin E and thromboxane B2, were determined by radioimmunoassay and showed a time sequence of secretion that corresponded to the appearance of PO in the cells: a marked increase within the first 24 hours with a substantial decrease thereafter. The presence of the PO inhibitors aminotriazole and sodium azide in the culture medium produced a suppression of prostanoid release from the monocytes comparable with that of indomethacin. The data suggest that the PO in the NE and ER of differentiating monocytes in vitro (1) is associated with arachidonic acid metabolism, and (2) is not formed by de novo protein synthesis but rather by an activation process.     

Iperplasia bilaterale del processo coronoideo in pazienti pediatrici

ObjectivesTo present an international literature review on the coronoid hyperplasia in pediatric patients, describing the etiology, the diagnosis and the therapeutic options.Materials and methodsA systematic revision of the international literature has been done on Medline database (www.ncbi.nlm.nih.gov/pubmed). Keywords chosen were: “bilateral coronoid hyperplasia”, “coronoid process”, “temporomandibular joint ankylosis”, “coronoid hyperplasia and treatment”, “pediatric patients”.ResultsAmong the pathogenetic factors, there are: temporalis muscle hyperactivity, genetic inheritance, hormonal stimulus, temporomandibular joint dysfunctions, traumas and persistent coronoid cartilage growth centre. The main symptoms are: mandibular hypomobility, alterations in protrusion and in lateral mandibular movements and muscular dystonia. Orthopantomography, magnetic resonance imaging and computed tomography are the diagnostic gold standards. The most widely surgical treatment used is coronoidectomy.ConclusionsOn the scientific evidences present in literature it's possible to conclude that, being coronoid hyperplasia a frequent pediatric condition, an early diagnosis is important to restore stomatognathic multifunctions as soon as possible.     

Clinical impairment in premanifest and early Huntington's disease is associated with regionally specific atrophy

TRACK‐HD is a multicentre longitudinal observational study investigating the use of clinical assessments and 3‐Tesla magnetic resonance imaging as potential biomarkers for future therapeutic trials in Huntington's disease (HD). The cross‐sectional data from this large well‐characterized dataset provide the opportunity to improve our knowledge of how the underlying neuropathology of HD may contribute to the clinical manifestations of the disease across the spectrum of premanifest (PreHD) and early HD. Two hundred and thirty nine gene‐positive subjects (120 PreHD and 119 early HD) from the TRACK‐HD study were included. Using voxel‐based morphometry (VBM), grey and white matter volumes were correlated with performance in four domains: quantitative motor (tongue force, metronome tapping, and gait); oculomotor [anti‐saccade error rate (ASE)]; cognition (negative emotion recognition, spot the change and the University of Pennsylvania smell identification test) and neuropsychiatric measures (apathy, affect and irritability). After adjusting for estimated disease severity, regionally specific associations between structural loss and task performance were found (familywise error corrected, P < 0.05); impairment in tongue force, metronome tapping and ASE were all associated with striatal loss. Additionally, tongue force deficits and ASE were associated with volume reduction in the occipital lobe. Impaired recognition of negative emotions was associated with volumetric reductions in the precuneus and cuneus. Our study reveals specific associations between atrophy and decline in a range of clinical modalities, demonstrating the utility of VBM correlation analysis for investigating these relationships in HD. Hum Brain Mapp, 2013. © 2011 Wiley Periodicals, Inc.     

Inequality in pediatric kidney transplantation in Brazil

Background

The aim of this study was to describe the access and factors associated with kidney transplantation for children in different regions of Brazil.

Methods

We analyzed a cohort of 1211 children enrolled on the transplant list from January 2011 to December of 2013. We fitted regression models to investigate factors associated with: (a) undergoing kidney transplantation from a deceased donor, and (b) being removed from the waiting list.

Results

The incidence of transplantation was uneven across regions, with the lowest rate at 0.4 per million age-related population (pmarp) in the Midwest and the highest incidence rate of 8.3 cases pmarp in the South. Children from the North and the Midwest regions had a 3–4 times lower probability of undergoing a deceased donor transplant (p < 0.05). Apart from the geographic region, age of recipients and GDP influenced the outcome. The likelihood of undergoing transplantation was very low in the youngest children in the North and Midwest. The number of transplant centers was not associated with either outcome.

Conclusions

Factors of inequality in transplantation in Brazil are of macroeconomic origin, but there is room to reduce inequalities. Training existing transplant center professionals in the care of children could diminish the discrepancies.