Glutaric aciduria type I associated with learning disability

The authors report a 7-year-8-months-old boy with glutaric aciduria type I who had associated dyslexia, dysgraphia and dyscalculia. The diagnosis of glutaric aciduria type I was confirmed on the basis of characteristic neuroimaging and biochemical findings. Axial T1-weighted magnetic resonance imaging scan of the brain showed fronto-temporal atrophy, open opercula and bat-wing dilatation of the sylvian fissures. Axial T[2]-weighted and FLAIR imaging showed hyperintense signal abnormality in both putamen and in the fronto-parietal deep white matter. Urinary aminoacidogram by thin layer chromatography revealed a generalized aminoaciduria. Urinary organic acid analysis by gas chromatography- mass spectroscopy revealed a marked excretion of glutaric acid. Psychoeducational testing was used to diagnose the learning disability. We postulate that the accumulation of glutaric acid and other metabolites was responsible for the child developing the associated learning disability.     

Systemic humicolus cryptococcosis

We report a 71/2-year-boy with disseminated systemic cryptococcosis. Although other species have been incriminated, this appears to be the first report of Cryptococcus humicolus. The child was HIV negative. He was treated with amphotericin B and fluconazole with intensive supportive care. The child responded after 6 weeks and is now on maintenance fluconazole therapy.     

A comparison of the tolerability of two dilution volumes (0.5 mL and 1.0 mL) of a purified chick embryo cell rabies vaccine administered intramuscularly to healthy adult volunteers: A randomized, intraindividual, assessor-blind study

Background: The current recommendation of the manufacturer for administering purified chick embryo cell rabies vaccine (PCECV) is to reconstitute the contents with 1.0 mL of water for injection (WFI). However, it has been debated whether a lower volume of WFI (0.5 mL) is likely to cause less pain.Objectives: The aims of this study were to compare the tolerability of PCECV administered IM at a volume of 0.5 mL versus 1.0 mL of diluent and to determine the immunogenicity of the vaccine when administered according to the World Health Organization-recommended preexposure prophylaxis regimen for rabies immunization.Methods: This comparative, intraindividual, assessor-blind study was conducted at the Department of Clinical Pharmacology, Topiwala National Medical College and Bai Yamunabai Laxman Nair Charitable Hospital Mumbai, India). Healthy volunteers aged 18 to 50 years received, by randomized sequence, 3 IM injections of PCECV, diluted in 0.5 mL or 1.0 mL of WFI, on study days 0, 7, and 28. Tolerability was assessed at 30 minutes and 24 hours after injection and included assessments for local and systemic reactions. For immunogenicity assessment, rabies virus-neutralizing antibody 0RVNA) titers were assayed at baseline and on day 49 (ie, 3 weeks after the third injection).Results: Twenty-six subjects (24 men, 2 women; mean [SD] age, 22.4 [2.4] years; mean [SD] body weight, 59.0 [11.3] kg) entered the study. Twenty-five subjects were included in the tolerability assessment; 24 in the immunogenicity assessment. No statistically significant differences were found between dilutions in the frequency of local and systemic reactions. Most reactions were mild. All subjects developed RVNA titers >0.5 IU/mL (indicative of protection) by day 49.Conclusions: In this population of healthy volunteers, a full antigenic dose of PCECV in a dilution of 0.5 mL WFI is as well tolerated locally and systemically as in a dilution of 1.0 mL. All subjects developed levels of RVNA far exceeding 0.5 IU/mL, which is indicative of protection against rabies.     

Murine neuronal progenitor cells are preferentially recruited to tumor vasculature via alpha4-integrin and SDF-1alpha-dependent mechanisms

Recent studies have described neuronal progenitor cell recruitment to tumors in vivo, however, the mechanisms mediating this recruitment are not yet understood. When C17.2 murine neuronal progenitors stably expressing luciferase (C17.2-luc) were adoptively transferred into mice carrying subcutaneous Lewis lung carcinomas they accumulated at 1% injected dose/g of tumor tissue. C17.2-luc demonstrated significantly greater accumulation and transmigration on tumor-derived endothelium (TEC) than on normal endothelium under physiologically relevant flow conditions. Function blocking of alpha4-integrin reduced recruitment of C17.2-luc cells to normal endothelium but not to TEC, however, function blocking of SDF-1alpha reduced overall accumulation of C17.2-luc on TEC and specifically reduced transendothelial migration. Together, these data suggest that recruitment of C17.2-luc cells to TEC is mediated via SDF-1alpha/CXCR4 activation that results in modification of alpha4-integrin and results in improved recruitment of C17.2-luc cells.     

Reliability,validity and psychometric properties of the Greek translation of the Major Depression Inventory

Background  

The Major Depression Inventory (MDI) is a brief self-rating scale for the assessment of depression. It is reported to be valid because it is based on the universe of symptoms of DSM-IV and ICD-10 depression. The aim of the current preliminary study was to assess the reliability, validity and psychometric properties of the Greek translation of the MDI.     

Production of murine monoclonal antibody to fetal hemoglobin

Fetal hemoglobin (Hb F) is a major hemoglobin (Hb) component at birth. Hb F levels are markedly elevated in a number of inherited and acquired disorders. Measurement of Hb F levels is usually carried out by alkali denaturation which is not very accurate for low and high values. An accurate estimation of Hb F, and also of F cells, is desired in many hematological disorders like sickle cell disease, in monitoring the efficacy of hydroxyurea (HU) therapy, to assess feto-maternal hemorrhage (FMH) during pregnancy and in the postpartum period. We have raised a murine monoclonal antibody to human Hb F, that accurately measures the number of F cells by flow cytometry. The antibody was found to be potent and specific for F cells.     

PATIENT SATISFACTION IN PROSTHETIC REHABILITATION PROGRAMME

Patient satisfaction is an important outcome measure independent of other outcomes. Its measurement is important to assess the effectiveness of a programme and to gain insight into the patients'' perception of the programme. In this study conducted in a large rehabilitation centre it was found that majority of patients express satisfaction with care inspite of perceived discomfort. Various demographic factors, severity or duration of the disability or the level of rehabilitation do not influence patient satisfaction. Patients express more concern with aspects such as delay in issue of the prosthesis, or hotel component of the hospital services. Patients did not appear too concerned about the level of information provided. Patient satisfaction is an individual reaction to the overall care process and is influenced by the initial expectation level of the patient. Emotional response of the patient appears to be more important determinant of patient satisfaction than the cognitive evaluation. Periodical assessment of patient satisfaction should be an important component of any programme evaluation exercise.KEY WORDS: Amputation, Patient satisfaction, Programme evaluation, Prosthesis, Quality of care, Rehabilitation     

Epidermal cyst of the breast: Detection in a screening programme

Two cases of epidermal cyst of the breast, a rare benign condition, were detected during a 3-year period in a mammographic screening programme, from 57 954 screening examinations. It is not uncommon for epidermal cysts to be initially misdiagnosed. The mammographic, ultrasound and histological features are presented. It is recommended that these lesions be resected because they possibly have malignant potential.     

Posttraumatic cardiac dysfunction: assessment with radionuclide ventriculography

The authors studied 54 patients with multisystem trauma, including blunt chest injury, using combined dynamic first-pass and electrocardiographically (ECG) gated radionuclide ventriculography (RNV) to evaluate for posttraumatic myocardial dysfunction. Twenty-six of 54 (48%) patients had abnormalities of ventricular wall motion. The ventricular dysfunction was confined to the right ventricle in 92% of cases. In general, abnormalities consisted of right ventricular dilatation and diffuse hypokinesia, although in seven cases there were localized wall-motion abnormalities. The right ventricular ejection fraction of those patients with wall-motion abnormalities was significantly lower than those with normal studies. Left ventricular ejection fraction did not differ significantly between these groups. ECG changes were not associated with the cardiac dysfunction demonstrated scintigraphically, nor was there a relationship between the number or type of extrathoracic or thoracic injuries demonstrated by RNV. Follow-up studies obtained in 15 cases showed a significant overall improvement in cardiac function by 3 weeks after injury. Combined first-pass and ECG-gated RNV is useful for the identification and follow-up of patients with posttraumatic cardiac dysfunction.