Summary
Cartilage–hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia characterized by short‐stature, sparse hair and impaired cellular immunity. We describe a young girl who was ...diagnosed with CHH based on the findings of recurrent infections, short stature with metaphyseal chondrodysplasia, and a confirmed bi‐allelic RMRP gene mutation. At 13 years, the patient developed an Epstein–Barr virus (EBV)‐driven lymphoproliferative disorder involving the lung, which responded partially to chemotherapy. Simultaneously, she developed multiple indurated plaques involving her face, which had histological findings of granulomatous inflammation and EBV‐associated low‐grade lymphomatoid granulomatosis. The patient received a matched unrelated peripheral blood stem cell transplant at 15 years of age, and her immunological parameters and skin lesions improved. Lymphomatoid forms of granulomatosis and cutaneous EBV‐associated malignancies have not been described previously in CHH. This case highlights the possibility of EBV‐associated cutaneous malignancy in CHH.
To compare the incidence of acute histologically proven rejection in children who have had a liver transplant for hepatoblastoma with a control group of children transplanted for biliary atresia ...(EHBA). A retrospective case notes based study was performed. Twenty patients were identified with hepatoblastoma who were transplanted at a single unit between 1991 and 2008. These were matched as closely as possible for age, gender, year of transplant and type of immunosuppression used to the control group transplanted for biliary atresia (n = 60). There was a significant decrease in rate of acute rejection as assessed by the rejection activity index (RAI) in the hepatoblastoma group (75% vs. 50%, respectively, p < 0.04). Chronic rejection was rare in both groups, but twice as common in the biliary atresia group. Equal levels of immunosuppression were achieved in both groups. Renal function was noted to be reduced one yr post‐transplant in both groups, as previously reported. A modified immunosuppression regimen could be considered in children with hepatoblastoma undergoing liver transplantation.
Recent work from our group (Segala et al, eLife, 2023) shows that the rules for binocular luminance signal combination depend on spatial frequency (SF). Structured patterns show strong interocular ...suppression while unstructured inputs (mean field disks) do not. Here, we used SSVEPs to ask if SF dependence is also found in chromatic pathways.
SSVEPs were recorded from 12 subjects using a canonical V1 template (Poncet & Ales, 2023). Eyes were targeted using shutter goggles and stimuli were contrast-reversing gratings or disks at 5Hz (left eye) and 7Hz (right eye). Experimental factors were stimulus SF (disk, grating 1cpd), chromaticity (LMS, L-M or S-cone isolating) and ocularity (left, right or both).
Monocular conditions generated large responses at 2F. In binocular conditions, all 2F responses showed suppression, and significant intermodulation (IM) terms (sums and differences of the inputs - e.g., 2Hz) were present. The magnitude of both suppression and IM in the binocular condition depended on SF and chromaticity; IM amplitudes were higher for gratings compared to disks in the luminance condition, but higher for disks compared to gratings in the chromatic conditions. Overall we found significant differences in the spectral response signatures across all stimulus combinations.
All inputs undergo binocular combination in V1 but the rules governing the combination appear to depend on both chromaticity and SF.
The occipital lobe contains retinotopic representations of the visual field. The representation of the central retina in early visual areas (V1-3) is found at the occipital pole. When the central ...retina is lesioned in both eyes by macular degeneration, this region of visual cortex at the occipital pole is accordingly deprived of input. However, even when such lesions occur in adulthood, some visually driven activity in and around the occipital pole can be observed. It has been suggested that this activity is a result of remapping of this area so that it now responds to inputs from intact, peripheral retina. We evaluated whether or not remapping of visual cortex underlies this activity. Our functional magnetic resonance imaging results provide no evidence of remapping, questioning the contemporary view that early visual areas of the adult human brain have the capacity to reorganize extensively.
Food retail studies have focused on the availability of food stores, and on disparities in food access by neighborhood race and income level. Previous research does not address possible changes in ...local food environments over time, because little is known about the extent to which food environments fluctuate.
Records of stores licensed to sell food with the New York State Department of Agriculture and Markets from 2007-2011 were compared to detect differences in the total number of food stores and supermarkets annually, as well as the total change for the five-year period. Food stores and supermarkets per 10,000 persons were also calculated. Food retail stability - how many individual food stores opened and closed - was also calculated for total stores and supermarkets. All results were stratified by income level and racial characteristics of 2000 Census Bureau census tracts.
There was an overall increase in all food stores, as well as in supermarkets specifically. However, stability - the proportion of stores that remained open for five years - was greater in higher-wealth and predominantly white areas. Supermarkets remained open in greater proportion than total stores in all racial/ethnic and income areas, but areas with the highest wealth had the greatest supermarket stability. Those areas also had slightly more supermarkets per 10,000 persons, and had no permanent closures of supermarkets. The proportion of new store locations was similar between areas, but lowest-income areas had the greatest proportion of new supermarket locations.
These data suggest that food retail environments change over short periods of time. Stability of food retail environments varies between neighborhoods by race and income. Fluctuations may need to be studied further to understand their impact on food behaviors and health of residents. Finally, the dynamic nature of food retail environments suggests opportunities for policymakers and community organizations to create programs that promote the availability of healthier foods at the neighborhood level.
Human patients rendered cortically blind by lesions to V1 can nevertheless discriminate between visual stimuli presented to their blind fields. Experimental evidence suggests that two response modes ...are involved. Patients are either unaware or aware of the visual stimuli, which they are able to discriminate. However, under both conditions patients insist that they do not see. We investigate the fundamental difference between percepts derived for the normal and affected hemifield in a human hemianope with visual stimuli of which he was aware. The psychophysical experiments we employed required the patient, GY, to make comparisons between stimuli presented in his affected and normal hemifields. The subject discriminated between, and was allowed to match, the stimuli. Our study reveals that the stimulus parameters of colour and motion can be discriminated and matched between the normal and blind hemifields, whereas brightness cannot. We provide evidence for associations between the percepts of colour and motion, but a dissociation between the percepts of brightness, derived from the normal and hemianopic fields. Our results are consistent with the proposal that the perception of different stimulus attributes is expressed in activity of functionally segregated visual areas of the brain. We also believe our results explain the patient's insistence that he does not see stimuli, but can discriminate between them with awareness.
Background: Concentrated animal feeding operations emit air pollutants that may affect health. We examined associations of reported hog odor and of monitored air pollutants with physical symptoms and ...lung function in people living within 1.5 miles of hog operations. Methods: Between September 2003 and September 2005, we measured hydrogen sulfide (H 2 S), endotoxin, and particulate matter (PM 10 , PM 2.5 , and PM 2.5—10 ) for approximately 2-week periods in each of 16 eastern North Carolina communities. During the same time periods, 101 adults sat outside their homes twice a day for 10 minutes, reported hog odor and physical symptoms, and measured their lung function. Conditional fixed-effects logistic and linear regression models were used to derive estimates of associations. Results: The log odds (±1 standard error) of acute eye irritation following 10 minutes outdoors increased by 0.53 (±0.06) for every unit increase in odor, by 0.15 (±0.06) per 1 ppb of H 2 S, and by 0.36 (±0.11) per 10 μg/m 3 of PM 10 . Odor and H 2 S were also associated with irritation and respiratory symptoms in the previous 12 hours. The log odds of difficulty breathing increased by 0.50 (±0.15) per unit of odor. A 10 μg/m 3 increase in mean 12-hour PM 2.5 was associated with increased log odds of wheezing (0.84 ± 0.29) and declines in forced expiratory volume in 1 second (—0.04 ± 0.02 L). A 10 EU/mg increase in endotoxin was associated with increased log odds of sore throat (0.10 ± 0.05), chest tightness (0.09 ± 0.04), and nausea (0.10 ± 0.05). Conclusions: Pollutants measured near hog operations are related to acute physical symptoms in a longitudinal study using analyses that preclude confounding by time-invariant characteristics of individuals.
Is the brain able to reorganise following loss of sensory input? New work on individuals with sight loss shows that, while brain areas normally allocated to vision respond to other sensory stimuli, ...those responses are unlikely to mean the brain has rewired.
Achromatopsia is a rare inherited disorder rendering retinal cone photoreceptors nonfunctional. As a consequence, the sizable foveal representation in the visual cortex is congenitally deprived of ...visual input, which prompts a fundamental question: is the cortical representation of the central visual field in patients with achromatopsia remapped to take up processing of paracentral inputs? Such remapping might interfere with gene therapeutic treatments aimed at restoring cone function.
We conducted a multicenter study to explore the nature and plasticity of vision in the absence of functional cones in a cohort of 17 individuals affected by autosomal recessive achromatopsia and confirmed biallelic disease-causing CNGA3 or CNGB3 mutations. Specifically, we tested the hypothesis of foveal remapping in human achromatopsia. For this purpose, we applied two independent functional magnetic resonance imaging (fMRI)-based mapping approaches, i.e. conventional phase-encoded eccentricity and population receptive field mapping, to separate data sets.
Both fMRI approaches produced the same result in the group comparison of achromatopsia versus healthy controls: sizable remapping of the representation of the central visual field in the primary visual cortex was not apparent.
Remapping of the cortical representation of the central visual field is not a general feature in achromatopsia. It is concluded that plasticity of the human primary visual cortex is less pronounced than previously assumed. A pretherapeutic imaging workup is proposed to optimize interventions.
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