The failure of routine rapid HIV testing: a case study of improving low sensitivity in the field

Background  

The rapid HIV antibody test is the diagnostic tool of choice in low and middle-income countries. Previous evidence suggests that rapid HIV diagnostic tests may underperform in the field, failing to detect a substantial number of infections. A research study inadvertently discovered that a clinic rapid HIV testing process was failing to detect cases of established (high antibody titer) infection, exhibiting an estimated 68.7% sensitivity (95% CI [41.3%-89.0%]) over the course of the first three weeks of observation. The setting is a public service clinic that provides STI diagnosis and treatment in an impoverished, peri-urban community outside of Cape Town, South Africa.     

Abdominal hernias complicating continuous ambulatory peritoneal dialysis

Twenty-five percent of all CAPD patients reviewed in this study developed abdominal hernias. Eleven hernias (32.4%) occurred at the catheter insertion site, 17.6% were inguinal, 26.5% were epigastric and umbilical and 23.5% occurred at the site of previous abdominal incisions. The risk of developing a hernia was significantly greater in patients over 40 years of age, women of parity greater than 3, patients who had had undergone more than 3 laparotomies and those with a previous hernia repair. Three hernias became incarcerated, one with intestinal strangulation. Early surgical repair is advisable to avoid these complications.     

Chromosome 17q12 duplications: Further delineation of the range of psychiatric and clinical phenotypes

Copy number variants at chromosome 17q12 have been associated with a spectrum of phenotypes. Deletions of 17q12 are well described and associated with maturity onset diabetes of the young type 5 (MODY5) and cystic renal disease (HNF1β) as well as cognitive impairment and seizures. Duplication of 17q12 is emerging as a new genetic syndrome, associated with learning disability, seizures, and behavioral problems. The duplication is often inherited from an apparently unaffected parent. Here, we describe a three‐generation family with multiple individuals carrying a17q12 microduplication with varying clinical features, consistent with variable penetrance. The proband who inherited a 1.8 Mb interstitial 17q12 duplication from his mother presented with developmental delay, behavioral problems, and mild dysmorphism. One of his sisters, his maternal uncle, and his maternal grandmother also carry the 17q12 microduplication. Clinical features of the carriers include renal problems, diabetes mellitus, learning difficulties, epilepsy and mental illness. Cognitive abilities range from normal function to moderate impairment (full‐scale IQ range: 52‐99). In light of recent reports of association of this locus with schizophrenia, we performed a detailed psychiatric assessment and confirmed that one family member has symptoms consistent with a diagnosis of schizophrenia and another has a prodromal syndrome with attenuated positive symptoms of psychosis. This report extends the clinical phenotype associated with the 17q12 microduplication and highlights the phenotypic variability.     

Handedness and social anxiety: Using Bryden's research as a catalyst to explore the influence of familial sinistrality and degree of handedness

ABSTRACT

Phil Bryden's work has impacted on many areas of laterality, including degree and measurement of hand preference, as well as influences of familial sinistrality (FS). For example, Bryden[(1977). Measuring handedness with questionnaires. Neuropsychologia, 15, 617–624] is a well-cited and influential paper that remains relevant to this day. Inspired by this we extended our analysis of the relationship between handedness and anxiety in a number of ways. We used familial handedness and strength of handedness to examine their potential influences on anxiety, and extended our research by exploring their relationship to social anxiety, using the Social Phobia Inventory (SPIN). Inconsistent left-handers (ILH) were found to be more socially anxious. In all categories of SPIN except avoidance, ILH were significantly more anxious than consistent right- and left-handers. There were FS differences between ILH with a first degree left-handed relative (FS+) compared to ILH with no first degree left-handed relative (FS?) on all categories of anxiety scores. Within FS+ participants, ILH had significantly higher anxiety scores, compared with consistent handers across all categories. This suggests that ILH's social anxiety may be influenced by a close left-handed relative. Inspired by examining Bryden's work for this special issue, we will continue to add both strength of preference and familial handedness to our work.     

The stromal cell antigen CD248 (endosialin) is expressed on naive CD8+ human T cells and regulates proliferation

CD248 (endosialin) is a transmembrane glycoprotein that is dynamically expressed on pericytes and fibroblasts during tissue development, tumour neovascularization and inflammation. Its role in tissue remodelling is associated with increased stromal cell proliferation and migration. We show that CD248 is also uniquely expressed by human, but not mouse (C57BL/6), CD8(+) naive T cells. CD248 is found only on CD8(+) CCR7(+) CD11a(low) naive T cells and on CD8 single-positive T cells in the thymus. Transfection of the CD248 negative T-cell line MOLT-4 with CD248 cDNA surprisingly reduced cell proliferation. Knock-down of CD248 on naive CD8 T cells increased cell proliferation. These data demonstrate opposing functions for CD248 on haematopoietic (CD8(+)) versus stromal cells and suggests that CD248 helps to maintain naive CD8(+) human T cells in a quiescent state.