Clonal expansion of Vγ3/Vδ3-expressing γδ T cells in an HIV-1/2-negative patient with CD4 T-cell deficiency

Immunological investigations were carried out in an HIV-1/2//HTLV-1-negative patient with CD4 T-cell deficiency (0.357–0.6 × 10⁹/l) and expansion of γδ T cells which accounted for 26–42% of peripheral blood lymphocytes during an observation period of 3 years. Flow cytometry analyses with a panel of available Vγ/Vδ-specific monoclonal antibodies indicated that the pathologically expanded γδ population expressed Vγ2 or Vγ3 paired with Vδ3 on the surface but lacked the expression of activation antigens such as CD38 or CD71. Cloning and sequencing of RT-PCR products obtained after amplification of cDNA with Vγ-Cγ and Vδ-Cδ specific primers confirmed the presence of a clonally expanded Vγ3/Vδ3 population in the peripheral blood of this patient. Cytotoxicity assays performed with purified γδ T cells as effectors and resting or preactivated autologous CD4 T cells as targets failed to reveal evidence for autoreactive cytotoxicity of Vγ3/Vδ3 cells as a possible mechanism of CD4 T-cell deficiency in this patient.     

Waardenburg Syndrome Type I with Heterochromia Iridis and Circumscribed Hypopigmentation of the Skin

Abstract: We report a 3‐year‐old girl with autosomal dominant inherited Waardenburg syndrome type I showing circumscribed hypopigmentation of the skin, heterochromia iridis, sensorineural deafness, and dental aberrations. Clinical diagnosis was confirmed by the identification of an underlying missense mutation (C811T) in the PAX3 gene. Early diagnosis of Waardenburg syndrome among children with pigment anomalies enables a successful interdisciplinary medical care.     

Intrarenal distribution of oxalic acid, calcium, sodium, and potassium in man

Abstract. The renal papilla in man has been shown to contain a high concentration of oxalate (5.5 i- 0.8 mmole/kg wet weight, mean SEM, n=7 kidneys), and that there is a significant concentration gradient between oxalate in the papilla and that of the medulla (0.44 0.08, P c 0.05) and the cortex (0.3 f 0.06, P c 0.05). Significant calcium and sodium gradients between renal papilla and medulla and cortex were confirmed and parallel that of oxalate. Potassium showed a significant decrease in the papilla (33.1 f 0.9)as compared to the medulla (42.1 f 1.9, P ˜0.05). The concentrations of oxalate and calcium in the papilla were respectively 25-fold and 6-fold higher than the urinary concentrations of oxalate and calcium. It is concluded that these high concentrations of oxalate and calcium in the renal papilla are related to the formation of Randall's plaques and may be an essential factor in the pathogenesis of renal stones which is still far from clear.     

Predictive validity of attentional functions in differentiating children with and without ADHD: a componential analysis

Aim The objective of this study was to investigate which attentional components are of predictive utility in differentiating children with attention‐deficit–hyperactivity disorder, combined type (ADHD‐C) from their peers without ADHD. Methods Thirty‐four children participated in the study: 17 males with ADHD‐C (mean age 10y 4mo, SD 1y 9mo) and 17 comparison children (12 males, 5 females; mean age 10y 8mo, SD 1.7y). Attentional functions were assessed using a computer‐administered, child‐friendly test series in German (i.e. Testbatterie zur Aufmerksamkeitsprüfung für Kinder; KITAP). The KITAP measures several attentional components, including alertness and executive attention (inhibition, divided attention, flexibility). Results The variable best able to discriminate between children with and without ADHD‐C was found to be response time variability in a go/no go task, followed by, in order, number of errors in a divided attention task and response time variability in an alertness task. However, group discrimination was not facilitated by differences in either response latency or accuracy of response in visuospatial attention and attentional flexibility tasks. Interpretation The assessment of attentional functions proved to be a powerful instrument for discriminating between children with and without ADHD‐C. Notably, the discriminative power of executive attention was found to be task dependent and dependent on processing demands.     

A 7-year longitudinal follow-up of intellectual development in children with congenital hemiplegia

Aims  Our aim was to examine intellectual development in children with congenital hemiplegia from early childhood to adolescence.
Method  Full-scale IQ (FIQ), Verbal IQ (VIQ), and Performance IQ (PIQ) scores were measured in 32 participants (19 males, 13 females) with congenital hemiplegia at mean ages of 4 years 6 months (SD 7mo; 31 participants), 7 years (SD 6mo; 23 participants), and 14 years (SD 1y 5mo; 26 participants).
Results  The FIQ and VIQ scores did not change with age, but the PIQ declined significantly (0.7 points per year; p =0.004). The estimated mean (95% confidence intervals) scores in males born at term with right-sided lesions without epilepsy were FIQ 106.5 (95.29–117.74), VIQ 105.9 (95.57–116.24), and PIQ 103.7 (93.19–114.31). Those means were negatively associated with preterm birth. PIQ was negatively associated with epilepsy. VIQ increased more quickly in males and in children with right-sided lesions.
Interpretation  The results confirm previous findings of FIQ stability, PIQ decline, the impact of epilepsy, and the status of females with left-sided lesions, and also reveal the effect of gestational age at birth. They underline the importance of management focused on nonverbal functions and further the debate about the early lateralization of language, the 'crowding effect', and the difference in brain plasticity between males and females.