The distribution of glial fibrillary acidic protein and vimentin in postnatal marmoset (Callithrix jacchus) brain

Antisera to glial fibrillary acidic protein (GFAP) and vimentin were used to elucidate the distribution of these intermediate filament proteins in postnatal marmoset brains of various ages. The ependyma of the lateral ventricles was unique in being equally immunoreactive for both GFAP and vimentin at all ages. Vimentin alone was consistently demonstrated in endothelial and leptomeningeal cells at all ages. In neonates, vimentin immunoreactivity greatly exceeded that of GFAP and was located primarily in radial glia in the subependymal plate of the anterior cerebrum. Their vimentin-positive processes formed thick fascicles in the corpus callosum but separated into fine fibres on entering the cortex. GFAP immunoreactivity in these cells and processes was very limited. With age, GFAP-positive cells increased in number and displayed the typical stellate appearance of astroglia. The vimentin-positive radial glial population decreased considerably during this period and by 6 months had virtually disappeared. The GFAP reaction in adult brain was even more widespread, largely due to the increased number of positive astrocytes in the white matter. Vimentin immunoreactivity in the adult was greatly diminished and positive radial glia were not detectable. A major change in intermediate filament protein expression, therefore, occurs in the early postnatal period and probably reflects phases in the differentiation of radial glial precursors into astrocytes.     

Are lasers superior to lights in the photoepilation of Fitzpatrick V and VI skin types? – A comparison between Nd:YAG laser and intense pulsed light

Background and objectives: There are no large volume comparative studies available to compare the efficacy of lasers over lights for hair removal in Fitzpatrick V and VI skin types. This study is designed to compare the efficacy of Nd:YAG laser versus IPL in the darker skin types. Study design/materials and methods: Thirty-nine patients included in Group-1 were treated with Nd:YAG and 31 in Group-2 with IPL. Both groups received 5 sessions of treatment. The hair counts were assessed using digital photography and manual counting method before and after treatment and the results were analysed. Patient satisfaction scores and pain scores were recorded in each session and compared. Results: Mean hair reduction in the IPL group was 25.70 and Nd:YAG group was 24.12 (95% CI). In the Nd:YAG group, 59% of subjects had burning sensation while the figure was 32.3% in IPL group. Burning was less in IPL group (p < 0.023). There were no statistically significant differences noticed regarding hyperpigmentation in both the groups (p < 0.115). Conclusion: Both Nd:YAG and IPL are equally effective for epilation of the darker skin types. Nd:YAG is associated with mild burning sensation in a significant number of patients. Patient satisfaction scores were comparable in both the groups.     

Histopathologic and Microbiologic Aspects of Ventilator-associated Pneumonia

Background: The relationship between microbiology and histology in patients with ventilator-associated pneumonia has been sparsely described.

Methods: Twenty-five patients who died in the intensive care unit after their lungs had been mechanically ventilated for 72 h were studied. Twenty of the 25 died with clinical suspicion of pulmonary infection. A total of 375 immediate postmortem pulmonary biopsies were obtained after death and processed for quantitative microbiology and histology. Four evolutionary stages of pneumonia were defined: early, intermediate, advanced, and resolution.

Results: At least one specimen with histologic evidence of pneumonia was found in all but two patients (92%). Histologic pneumonia was a widespread and frequent process (46% of biopsies examined) involving predominantly the lower lobes (55% of all biopsies with pneumonia) and showing different histopathologic stages of progression coexisting in the same lung lobes. Lung cultures were frequently polymicrobial (149 of 375, 40% of the pulmonary biopsy cultures, and 20 of 25, 80% of the cases) and not always yielding the same pathogen (19 microorganisms) when comparing one lung to the other. Histopathology and microbiologic biopsy cultures showed a weak relationship (28% and 49% of species had counts greater or equal to 103 cfu/g in samples without pneumonia from patients with and without prior antibiotic treatment, respectively). Histopathologic evolutionary stages were not associated with any differences in quantitative culture results of pulmonary biopsies, independently of prior administration of antibiotics. Higher bacterial concentrations of biopsy cultures were associated with the absence of prior antibiotic treatment.     

Verbal IQ vs. performance IQ difference scores in males and females from the WAIS-R standardization sample

Clinical research that has used the Wechsler-Bellevue and Wechsler Adult Intelligence Scales with patients who are suffering lateralized cerebral pathology had indicated distinct patterns of VIQ-PIQ discrepancies related to laterality of hemispheric involvement. Research data also have been interpreted to suggest that VIQ-PIQ discrepancy patterns differ as a function of the sex of the patient. However, this latter hypothesis finds less support in recent studies that have employed the newer Wechsler Adult Intelligence Scale-Revised (WAIS-R). This raises the possibility that, other than sex, manifest differences in VIQ-PIQ discrepancies may be more a consequence of normative characteristics in successive editions of the Wechsler scales or of other factors that surround neurologic impairment. Moreover, to date, clinical and research evidence for biologic sex as a mediating factor in VIQ-PIQ discrepancies has been interpreted in the absence of base rates for the distribution of such discrepancies, which occur in the normal population. Thus, the present study reports base rates for the magnitude, frequency, and direction of VIQ-PIQ discrepancies found for the 940 males and 940 females who comprise the WAIS-R standardization sample. No differences of consequence were noted in male vs. female VIQ-PIQ discrepancies. Implications are discussed in the light of earlier and emergent research with the Wechsler scales.     

Duplication 2 (q11.2-q21): a previously unreported abnormality

A 7 year old boy is described with moderate learning disability, facial dysmorphism, and a de novo duplication of chromosome 2 (q11.2-q21). There are few published reports of proximal 2q duplication, and none reporting direct de novo duplication for this exact region.     

An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome

OBJECTIVE: To investigate genetic susceptibility to recurrent fevers, generalized severe myalgia, and migratory erythema in an Israeli Arab child with no family history of similar disease. METHODS: DNA sequencing of exons 1-6 of the TNFRSF1A gene (formerly TNFR1) was performed in the patient and his parents to determine the presence of the autosomal-dominant tumor necrosis factor receptor-associated periodic syndrome (TRAPS); informative markers spanning the TNFRSF1A locus were used to genotype all available members of the patient's family. The TNFRSF1A gene was subsequently screened in 69 healthy Arab controls and 96 Caucasian controls. Formal forensic paternity testing was performed on the child. RESULTS: We found a de novo missense mutation in exon 3 of the TNFRSF1A gene, involving a novel C-->T transition encoding a Cys70Arg (C70R) variant, in the Israeli Arab patient. Eight of the common familial Mediterranean fever (FMF) gene MEFV mutations were excluded. This mutation was not present in the parents or siblings, or among the 69 healthy Arab controls. However, another TNFRSF1A variant, Pro46Lys (P46L), was present in 1 of the Arab controls. CONCLUSION: We have identified a TNFRSF1A mutation associated with periodic fever in an Arab patient, and a TNFRSF1A variant, which is variably pathogenic in Caucasians, in an Arab control. This is the first report of a de novo mutation in periodic fevers in general, and also of TRAPS in the Arab population. These findings demonstrate the need to include TRAPS in the differential diagnosis of recurrent fevers in this population.     

Norethisterone treatment to control timing of the IVF cycle

The use of norethisterone to control the timing of the precedingmenstrual cycle and in consequence the timing of the in-vitrofertilization (IVF) cycle has been evaluated in a therapeuticIVF programme in which oocyte recovery was limited to 2 dayseach week. A consecutive series of 181 cycles after norethisteroneand 29 untreated controls were compared. Menstruation occurred2– 3 days after norethisterone as planned in 82% of patientsoverall and in 87% of patients whose menstrual cycle lengthvaried by no more than 2 days about the median. Norethisteronetreatment did not significantly affect the outcome of IVF treatmentcompared with the controls in respect to cycles abandoned (12versus 0%, respectively), peak follicular diameter (mean 18.1mm versus 18.3 mm 48 h before laparoscopy), oocyte recoveryrate (4.6 versus 4.5 per patient), oocyte morphology (63% versus52% mature), or fertilization rate (72 versus 65% of matureoocytes). Clinical pregnancies were too few for comparison (rates27 versus 9% per laparoscopy) but the overall rate (23%) indicatedeffectiveness of the methods. Prior norethisterone treatmentappears to be an effective and useful means of controlling thetiming of the oocyte recovery in IVF treatment.     

Exclusion of the familial Mediterranean fever locus as a susceptibility region for autosomal dominant familial Hibernian fever.

Autosomal dominant periodic fevers constitute a range of syndromes characterised by recurrent attacks of fever and abdominal pain. Familial Hibernian fever (FHF) has been described in only one United Kingdom based family, but two other Irish families have been found with similar clinical features. FHF resembles familial Mediterranean fever (FMF) in several clinical features, but the mode of inheritance of FHF is dominant whereas FMF is recessive. We have investigated whether autosomal dominant periodic fevers, in particular FHF, map to the FMF susceptibility locus (MEFV) on chromosome 16p13.3. We have used informative microsatellite markers flanking this locus to genotype members of the three families mentioned above. Two point and multipoint lod scores definitively excluded linkage to MEFV in the two larger families. A haplotype study confirmed these findings, indicating that FHF is genotypically as well as phenotypically distinct from FMF.