Airway hyper-responsiveness to adenosine 5''-monophosphate in preschool-age children with asthma

Airway hyper-responsiveness (AHR) to adenosine 5'-monophosphate (AMP) is closely associated with airway inflammation; however, not all asthmatic patients are responsive to it. This study was planned to investigate the predictive factors of AHR to AMP in asthmatic children aged between 3 and 6 yr. We performed a retrospective analysis of data from 63 asthmatic preschool-age children who were challenged by AMP in our department. All children were characterized by skin-prick tests, serum immunoglobulin E (IgE) levels, peripheral blood eosinophil percentage and bronchial challenge with methacholine (MCH) and AMP. Potential determinants for AHR to AMP were assessed within the group. AHR to AMP was found in 46% of preschool-age children with asthma, while that of MCH was 93.7%. All children responsive to AMP were also responsive to MCH. The geometric mean provocative concentration of MCH and AMP causing a 15% fall in transcutaneous oxygen tension (PC(15)PtcO(2)MCH and AMP) were 0.55 mg/ml (0.004-9.19) and 10.53 mg/ml (0.59-342.89), respectively. AMP-responsive children did not differ from non-responsive ones with respect to demographic factors, geometric mean PC(15)PtcO(2)MCH and atopic status. The median serum IgE level was significantly higher in AMP-responsive group than the non-responsive ones (p = 0.011). The peripheral blood eosinophilia was more frequent among responsive children (p = 0.019), and it was found as the only predictive factor for AMP responsiveness in preschool-age children with asthma in logistic regression model (odds ratio: 5.14; 95% CI: 1.23-21.47; p = 0.025). AMP responsiveness may be predicted by peripheral blood eosinophilia but not with atopy markers in young children with asthma.     

Cancer of the colon in an egg donor: policy repercussions for donor recruitment

This paper describes the tragic case of a young woman who died of cancer of the colon after successfully donating eggs to her younger sister. Although there is no direct link between her operation and the subsequent development of bowel carcinoma, this case imparts a feeling of unease when seen in conjunction with other cases reported during the last few years. It is a reminder that little is known of the long-term consequences of some aspects of assisted conception. Women undergoing ovarian stimulation for themselves or a matched recipient have the right to be advised, in an agreed format, that there is some concern about unproven potential risks from the stimulatory drugs. The safety of egg donors must assume priority over all other considerations, including lack of donors or any moral position. The recent decision by the Human Fertilisation and Embryology Authority (HFEA) to withdraw any form of payment or recompense to egg donors does not seem to us to be based on a balance of scientific advances, patient needs and the ethics of gamete supply. They state that the intention to withdraw payments was implicit in the 1990 Human Fertilisation and Embryology (HFE) Act. However the Act was based on the Warnock report made 6 years earlier. Even in 1990 ovum donation was uncommon and fertility drugs had not yet caused any unease. The Act provided the HFEA with discretionary powers to issue directions so that the future policies would be consistent with any emerging new medical evidence. It is imperative that the HFEA provide convincing evidence on how the current policy of payment to donors harms society, donors or recipients, and how in the UK the new policy will improve medical practice in assisted conception. Successful pilot studies must precede the implementation of any new policy. Failure to do this could cause irreversible harm to the practice of assisted conception using donor gametes, which will ultimately be against the basic aims of the 1990 HFE Act.      

Corneal densitometry in patients with arcus senilis and its correlation with serum lipid levels

Purpose:To evaluate corneal densitometry (CD) of patients with arcus senilis (AS) and its association with the serum lipid markers.Methods:This is a cross-sectional, case-control study. The AS diagnosis was made clinically. Forty-five eyes of 45 patients with AS and 38 eyes of 38 age-matched control subjects with no noticeable AS were enrolled in the study. All participants underwent detailed ophthalmologic examination along with corneal Scheimpflug imaging with CD measurement. The evaluated serum lipid markers of the participants included total cholesterol, triglyceride, low-density lipoprotein (LDL), high-density lipoprotein (HDL), and very-low-density lipoprotein (VLDL). The Spearman correlation analysis was used to correlate the serum lipid values and the CD. P < 0.05 was defined as statistically significant.Results:The male to female ratio was 26/19 and 14/24 in the study and control groups, respectively (P = 0.057). The mean age was 59.56 ± 8.7 and 56.47 ± 8.6 years in the study and control groups, respectively (P = 0.117). The mean total CD values in the zones extending from 2 to 12 mm were higher in the study group than in the control group (P < 0.001). The serum HDL level was found to be significantly decreased in the study group compared to the control group (P = 0.048 and Z = −1.976). There was a significant positive correlation between the serum triglyceride level and the CD value of the outermost zone (10–12 mm) (r = 0.334 and P = 0.025).Conclusion:The CD of patients with AS was found to increase not only in the peripheral zone but also in the cornea’s paracentral zone compared to the healthy controls. The serum triglyceride level should give an insight into the intensity of arcus senilis. The serum HDL levels were decreased in patients with AS.     

The regulation of hemopoiesis in long-term bone marrow cultures. II. Stimulation and inhibition of stem cell proliferation

The isolation of a DNA synthesis inhibitor (NBME fraction IV) and stimulator (RBME fraction III) specific for the hemopoietic stem cell (CFU-s) from freshly isolated normal adult and regenerating murine bone marrow, respectively, has been well documented. We have utilized long- term liquid bone marrow cultures in a further analysis of the role of these factors in the regulation of CFU-s proliferation. Our results show that shortly after feeding, at a time when the cultured CFU-s are actively proliferating, high levels of the hemopoietic stem cell proliferation stimulator fraction III can be isolated from the culture medium. In contrast, the presence of essentially noncycling CFU-s found in cultures fed 8-10 days previously correlates with high levels of the hemopoietic stem cell inhibitor fraction IV. These results suggest that a certain balance between these factors determines CFU-s proliferation in the long-term cultures. In support of this, DNA synthesis in actively cycling CFU-s in the long-term cultures is inhibited for at least 3 days by the addition of excess NBME fraction IV (inhibitor). Furthermore, DNA synthesis in noncycling cultured CFU-s is stimulated for at least 5 days by the addition of RBME fraction III (stimulator).     

Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome

Blau syndrome is a rare, multisystem, autosomal-dominant, and granulomatous disorder caused by susceptibility variants in the NOD2 gene. We describe here a 14-year-old girl with Blau syndrome with incidentally diagnosed renal carcinoma. The index case presented with growth retardation and recurrent symmetric arthritis. Her clinical symptoms included bilateral cataract due to recurrent uveitis, camptodactyly, and persistent erythematous rash with ichthyosis. Her two sisters and her mother were affected with combinations of these conditions—symmetric polyarthritis, uveitis, and skin involvement—suggesting an autosomal dominant trait. The index case developed a chronic renal insufficiency, and an abdominal computerized tomography scan revealed a 2.5-cm mass in the left kidney. The histopathological examination showed renal clear cell carcinoma, chronic tubulointerstitial nephritis, and giant cell granulomas in both the tumor and non-neoplastic renal tissue. Granulomatous inflammation was observed in the skin biopsy specimen. The patient was diagnosed with Blau syndrome based on her family history, uveitis, granulomatous inflammation proved by skin biopsy, and polyarthritis. Sequencing of the NOD2 gene showed a heterozygous p.R334Q mutation in all affected family members. To the best of our knowledge, this is the first reported case of a patient with Blau syndrome accompanied by chronic renal failure and renal carcinoma.     

An evaluation of quality of life of mothers of children with enuresis nocturna

The aim of this study was to evaluate the impact of enuresis nocturna on quality of life of the mothers. Mothers who have a child with monosymptomatic nocturnal enuresis (n = 28) and mothers who have a child without any health problems (n = 38) were enrolled in the study. Groups were in balance for background variables (child’s age, gender, and number of siblings; mother’s age, marital status, highest year of education completed, and occupation; presence of health insurance; and type of residence). Short-Form Health Survey (SF-36) Questionnaire, the Beck Depression Inventory (BDI), and Spielberg’s State-Trait Anxiety Inventory (STAI) were applied to all mothers. The mothers of children with enuresis had significantly lower quality-of-life scores in the SF-36 for the bodily pain (p = 0.015) and role emotional (p = 0.014) subscales. We observed significant difference between groups according to BDI; mean score was higher in mothers who have a child with enuresis nocturna (p = 0.017). There was no significant difference between groups according to the STAI. Significant differences according to bodily pain and role emotional subscales of SF-36, and the BDI scores, show that the mothers were negatively affected by having a child with monosymptomatic nocturnal enuresis.     

Premedication during micturating cystourethrogram to achieve sedation and anxiolysis

Micturating cystourethrogram (MCUG) is an imaging technique indicated in the diagnosis and follow-up of many diseases. We investigated the reliability and the efficacy of midazolam and chloral hydrate in sedation and anxiolysis during micturating cystourethrogram. Fifty-three children of similar ages (39 girls, 14 boys, mean age of 5.8±3.5 years) were randomized to midazolam (n=17), chloral hydrate (n=18) and control groups (n=18). Oral midazolam 0.6 mg/kg or chloral hydrate 25 mg/kg or saline were administered to the study groups 15–30 min prior to the urinary catheterization. Brietkopf and Buttner, Frankl and Houpt scales and Spielbergers State Anxiety Inventory and parents impressions were used to assess the level of sedation and anxiety. The Brietkopf and Buttner classification of emotional status and Houpt behavior rating scale demonstrated a significantly better emotional status and sedation in the midazolam group when compared to controls (P=0.01 and P=0.018, respectively). The catheterization was described as a more unpleasant and distressing event by the parents of the control and the chloral hydrate groups when compared to the parents of the midazolam group (P<0.05). Bladder capacity and frequency of detection of residual urine were not statistically different between the three study groups (P>0.05). Vital signs did not change significantly in any child. Sedation with midazolam does not have adverse effects on the results of micturating cystourethrogram, while it reduces the discomfort in children undergoing this radiological technique.This paper was presented as an oral poster at the Thirteenth Congress of the International Pediatric Nephrology Association.     

A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation

Metabolic Brain Disease - Gaucher disease type 2 is the most progressive and the rarest form of Gaucher disease, defined as the acute neuronopathic type. We presented two GD2 patients who died...     

Interactions between the perception of age and ethnicity in faces: an event-related potential study

Face perception models propose that different facial attributes are processed by anatomically distinct neural pathways that partially overlap. Whether these attributes interact functionally is an open question. Our goal was to determine if there are interactions between age and ethnicity processing and, if so, at what temporal epoch these interactions are evident. We monitored event-related potentials on electroencephalography while subjects categorized faces by age or ethnicity in two conditions: a baseline in which the other of these two properties not being categorized was held constant and an interference condition in which it also varied, as modelled after the Garner interference paradigm. We found that, when participants were categorizing faces by age, variations in ethnicity increased the amplitude of the right face-selective N170 component. When subjects were categorizing faces by ethnicity, variations in age did not alter the N170. We concluded that there is an asymmetric pattern of influence between age and ethnicity on early face-specific stages of visual processing, which has parallels with behavioural evidence of asymmetric interactions between identity and expression processing of faces.