Familial homozygous hypobetalipoproteinemia

An apparently new form of abetalipoproteinemia, homozygous hypobetalipoproteinemia, was studied in progeny of a mating of two parents each heterozygous for familial hypobetalipoproteinemia, which was characterized by three-generation vertical transmission on both maternal and paternal sides of the family. The two children, with an apparent homozygous form of hypobetalipoproteinemia, had, in addition to abetalipoproteinemia, acanthocytosis, intestinal etpithelial and hepatic steatosis and steatorrhea. No low desity lipoprotein (LDL) was detected by immunodiffusion with antisera to LDL or apoLDL. The defects in apolipoproteins in these two children were the same as those reported in children with abetalipoproteinemia inherited as an autosomal recessive trait. The genetic defect of hypobetalipoproteinemia, when homozygous, can lead to all of the known clinical and biochemical features of abetalipoproteinemia.     

The analytical performance of six urine drug screens on cobas 6000 and ARCHITECT i2000 compared to LC-MS/MS gold standard

BackgroundImmunoassays provide a rapid tool for the screening of drugs-of-abuse (DOA). However, results are presumptive and confirmatory testing is warranted. To reduce associated cost and delay, laboratories should employ assays with high positive and negative predictive values (PPVs and NPVs). Here, we compared the results of urine drug screens on cobas 6000 (cobas) and ARCHITECTi2000 (ARCHITECT) platforms for six drugs against LC-MS/MS to assess the analytical performance of these assays.MethodsEighty nine residual urine specimens, which tested positive for amphetamine, THC-COOH, benzoylecgonine, EDDP, opiates and/or oxycodone during routine drug testing, were stored frozen until later confirmation by LC-MS/MS. Immunoassays were performed on cobas and ARCHITECT using a split sample. A third aliquot from these samples was tested by LC-MS/MS to assess the percentage of false positive, false negative, true positive and true negative results and calculate the PPVs and NPVs for each immunoassay.ResultsThe PPVs of THC-COOH and EDDP assays were 100% on both platforms. Suboptimal PPVs were achieved for oxycodone (cobas, 57.1% vs ARCHITECT, 66.7%), amphetamine (77.8 vs. 100%), opiates (80.0 vs. 84.6%) and benzoylecgonine (88.9 vs. 84.2%) assays. The NPV was 100% for cobas and ARCHITECT oxycodone assays. Lower NPVs were achieved for THC-COOH (cobas, 28.6% vs ARCHITECT, 25.0%), EDDP (72.7% for both assays), benzoylecgonine (74.4% vs 73.8%), amphetamine (83.3% vs 82.8%) and opiates (100% vs 85.3%).ConclusionOverall, cobas and ARCHITECT urine drug screens have comparable analytical performance. Confirmatory testing is warranted for positive test results especially for oxycodone, amphetamine, opiates and cocaine. Negative drug screen results must be interpreted with caution especially for THC-COOH, EDDP, benzoylecgonine, amphetamine and opiates.     

Chromatin Ultrastructural Abnormalities in Leukocytes,as Peripheral Markers of Bipolar Patients

This study investigated the ultrastructural conformation changes of the chromatin in blood leukocytes of bipolar patients, versus normal controls, by using the phosphotungstic acid-hematoxylin (PTAH) block-staining method, modified for electron microscopy, and the immunohistochemical localization of the histone H1, by the immunogold method. These two methods are basically complementary. If histone H1 immunolabeling is used, it shows that the immunogold labeling on chromatin is different in the three phases of the illness, i.e., high in normothymia and low in depression as well as in mania. However, in this particular tissue fixation (4% paraformaldehyde-1% glutaraldehyde in 0,1 M phosphate buffer), the heterochromatin in the nuclei remains identical in the three phases of the illness. On the other hand, the PTAH method shows exactly the area of electron-lucent condensed chromatin, separate from the area of electron-dense, decondensed, chromatin. The present data confirmed that both the clinical state of depression as well as that of mania display activated lymphocytes and neutrophils with their characteristic relaxed de-condensed chromatin. On the contrary, the state of normothymia shows a reversion to the condensed state of the chromatin, as it is observed in the leukocytes of the normal controls. The ultrastructural conformations of the chromatin, revealed by the PTAH method, in combination with the histone H1 immunogold labeling, applied in blood leukocytes, supports the use of these two methods, as screening methods of choice in investigating blood biological markers in mental illness.     

Maxwell's equations-based dynamic laser–tissue interaction model

Since its invention in the early 1960s, the laser has been used as a tool for surgical, therapeutic, and diagnostic purposes. To achieve maximum effectiveness with the greatest margin of safety it is important to understand the mechanisms of light propagation through tissue and how that light affects living cells. Lasers with novel output characteristics for medical and military applications are too often implemented prior to proper evaluation with respect to tissue optical properties and human safety. Therefore, advances in computational models that describe light propagation and the cellular responses to laser exposure, without the use of animal models, are of considerable interest. Here, a physics-based laser–tissue interaction model was developed to predict the dynamic changes in the spatial and temporal temperature rise during laser exposure to biological tissues. Unlike conventional models, the new approach is grounded on the rigorous electromagnetic theory that accounts for wave interference, polarization, and nonlinearity in propagation using a Maxwell's equations-based technique.     

Exploring the benefit of synaesthetic colours: Testing for “pop-out” in individuals with grapheme–colour synaesthesia

In grapheme–colour synaesthesia, letters, numbers, and words elicit involuntary colour experiences. Recently, there has been much emphasis on individual differences and possible subcategories of synaesthetes with different underlying mechanisms. In particular, there are claims that for some, synaesthesia occurs prior to attention and awareness of the inducing stimulus. We first characterized our sample using two versions of the “Synaesthetic Congruency Task” to distinguish “projector” and “associator” synaesthetes who may differ in the extent to which their synaesthesia depends on attention and awareness. We then used a novel modification of the “Embedded Figures Task” that included a set-size manipulation to look for evidence of preattentive “pop-out” from synaesthetic colours, at both a group and an individual level. We replicate an advantage for synaesthetes over nonsynaesthetic controls on the Embedded Figures Task in accuracy, but find no support for pop-out of synaesthetic colours. We conclude that grapheme–colour synaesthetes are fundamentally similar in their visual processing to the general population, with the source of their unusual conscious colour experiences occurring late in the cognitive hierarchy.     

Guillain–Barré syndrome as a parainfectious manifestation of SARS-CoV-2 infection: A case series

The global SARS-CoV-2 pandemic posed an unprecedented challenge to almost all fields of medicine and Neurology is not an exception. Collecting information about its complications and related conditions will help clinicians to become more confident in managing this disease. Guillain-Barre Syndrome (GBS) is mostly described as a post-infectious phenomenon and its occurrence during acute phase of illness is of interest. GBS has recently been reported during the active phase of COVID-19 for the first time. Severity and fast progression of GBS associated with COVID-19 have also been shown in recent studies. Here we report three cases of GBS during the active phase of COVID-19 with severe symptoms and fast progression to quadriplegia and facial diplegia over 2 days, which led to death in one case due to severe autonomic dysfunction. We suggest SARS-CoV-2 might be associated with rather a severe, rapidly progressive and life-threatening phenotype of GBS.     

Delayed sleep–wake phase disorder in young adults: prevalence and correlates from a national survey of Norwegian university students

BackgroundDelayed sleep–wake phase disorder (DSWPD) during adolescence has been linked to impaired health and poor functioning. However there is a dearth of knowledge about DSWPD in young adulthood. We seek to contribute knowledge on the prevalence and correlates of DSWPD in this age group.MethodsData were drawn from a 2018 national survey of students in higher education in Norway (the SHoT-study). All 162,512 fulltime students in Norway were invited to participate and 50,054 students (69.1% women) aged 18–35 years were included (response rate = 30.8%). DSWPD was assessed by self-report, and was operationalized according to the criteria for DSWPD in the most recent edition of the International Classification of Sleep Disorders. Correlates of DSWPD were examined by validated self-report instruments covering a wide range of demographic and health domains.ResultsThe overall prevalence of DSWPD was 3.3%, and significantly higher in male (4.7%) than female (2.7%) students. DSWPD was associated with being single, having financial difficulties, having divorced parents, being overweight/obese, and physical inactivity. Students with DSWPD had more sleep problems during weekdays, and higher levels of somatic and mental health problems. Students with DSWPD also had an elevated risk of self-harm-related thoughts and behaviors as well as suicidality.ConclusionDSWPD remains a significant problem among young adults, and the high symptom load across health domains indicates that suggests a need for existing evidence-based approaches to be scaled for college students who present with DSWPD.