Transition to virtual clinic: Experience in a multidisciplinary clinic for Down syndrome

The COVID‐19 pandemic necessitated a rapid transition from in‐person office visits to virtual visits in the Down syndrome specialty program at Massachusetts General Hospital (MGH DSP). We describe the clinic transition to virtual visits in April 2020 and reflect on our six‐month experience in virtual visits. Clinic metrics were tracked. Electronic survey responses were collected from caregivers attending virtual visits. Input from the MGH DSP team was collected. From April to September 2020, we maintained patient volume (45 visits per month) and overall satisfaction score (6.7 out of 7) following a sudden, unanticipated transition to virtual visits. Survey of 17 caregivers attending virtual visits found that most were equipped with technology, had access to a private location, and most were able to access visit without any limitations. Caregivers appreciated the convenience of virtual visits but sometimes missed the personal connection of an in‐person visit. Overall, though, virtual visits were frequently viewed as no different than office visits. Team members identified benefits and challenges of virtual visits, as well as lessons learned from this transition. We were able to maintain multidisciplinary, specialty care with optimal caregiver feedback and sustained number of patient visits.     

Pinprick and Light Touch Are Adequate to Establish Sensory Dysfunction in Patients with Lumbar Radicular Pain and Disc Herniation

BackgroundThe frequency with which sensory disturbances occur in patients with radicular leg pain and disc herniation is not well known, and the efficacy of tests to identify such changes are not firmly established. The presence of sensory disturbances is a key sign of nerve root involvement and may contribute to the diagnosis of a lumbar disc herniation, identify patients for referral to spinal imaging and surgery, and improve disease classification.Questions/purposesIn this study, we sought: (1) to determine the frequency with which abnormal sensory findings occur in patients with lumbar disc herniation–related radicular pain, using a standard neurological sensory examination; (2) to determine what particular standard sensory test or combination of tests is most effective in establishing sensory dysfunction; and (3) to determine whether a more detailed in-depth sensory examination results in more patients being identified as having abnormal sensory findings.MethodsBetween October 2013 and April 2016, 115 patients aged 18 to 65 years referred to secondary health care with radicular leg pain and disc herniation were considered potentially eligible for inclusion in the study. Based on these inclusion criteria, 79% (91) were found eligible. Ten percent (11) were excluded because of other illness that interfered with the study purpose, 3% (3) because of cauda equina syndrome, 2% (2) because of spinal stenosis, 2% (2) because of prior surgery at the same disc level, and 2% (2) because of poor Norwegian language skills. Three percent (4) of the patients did not want to participate in the study. Of the 91 eligible patients, 56% (51) consented to undergo a comprehensive clinical examination and were used for analysis here. The sample for the purposes of the present study was predetermined at 50. These patients were first examined by a standard procedure, including sensory assessment of light touch, pinprick, vibration, and warmth and cold over the back and legs. Second, an in-depth semiquantitative sensory testing procedure was performed in the main pain area to assess sensory dysfunction and improve the detection of potential positive sensory signs, or sensory gain of function more precisely. Sensory loss was defined as sensations experienced as distinctly reduced in the painful side compared with the contralateral reference side. In contrast, sensory gain was defined as sensations experienced as abnormally strong, unpleasant, or painful and distinctly stronger than the contralateral side. Ambiguous test results were coded as a normal response to avoid inflating the findings. The proportions of abnormal findings were calculated for each sensory modality and for all combinations of the standard examination tests.ResultsThe standard examination identified at least one abnormal finding in 88% (45 of 51) of patients. Sensory loss was present in 80% (41), while sensory gain was present in 35% (18). The combination of pinprick and light touch identified all patients who were classified as having abnormal findings by the full standard examination. The semiquantitative procedure identified an additional three patients with an abnormal finding.ConclusionWe suggest that the combination of pinprick and light touch assessment is an adequate minimal approach for diagnostic and classification purposes in patients with lumbar radicular pain.Level of EvidenceLevel I, diagnostic study.     

COVID-19 in solid organ transplant recipients: A national cohort study from Sweden

Solid organ transplant (SOT) recipients run a high risk for adverse outcomes from COVID-19, with reported mortality around 19%. We retrospectively reviewed all known Swedish SOT recipients with RT-PCR confirmed COVID-19 between March 1 and November 20, 2020 and analyzed patient characteristics, management, and outcome. We identified 230 patients with a median age of 54.0 years (13.2), who were predominantly male (64%). Most patients were hospitalized (64%), but 36% remained outpatients. Age >50 and male sex were among predictors of transition from outpatient to inpatient status. National early warning Score 2 (NEWS2) at presentation was higher in non-survivors. Thirty-day all-cause mortality was 9.6% (15.0% for inpatients), increased with age and BMI, and was higher in men. Renal function decreased during COVID-19 but recovered in most patients. SARS-CoV-2 antibodies were identified in 78% of patients at 1–2 months post-infection. Nucleocapsid-specific antibodies decreased to 38% after 6–7 months, while spike-specific antibody responses were more durable. Seroprevalence in 559 asymptomatic patients was 1.4%. Many patients can be managed on an outpatient basis aided by risk stratification with age, sex, and NEWS2 score. Factors associated with adverse outcomes include older age, male sex, greater BMI, and a higher NEWS2 score.     

Lead-based paint testing technologies: summary of an EPA/HUD field study.

The U.S. Environmental Protection Agency and the U.S. Department of Housing and Urban Development sponsored a field study of portable technologies for testing for lead in paint in three U.S. cities in 1993. Six chemical test kits and six X-ray fluorescence instruments, which represented the two main types of portable technologies available for residential lead testing at that time, were evaluated. Painted building components in single-family and multifamily housing units were selected to assess the performance of these products under real-world conditions. The study found that the chemical test kits were not effective in distinguishing lead-based paint, as defined by federal standards, from nonlead based paint. The X-ray fluorescence instruments were, under certain circumstances, found to be effective. The study filled an informational gap about the accuracy and precision of the portable lead-testing technologies. This article describes the design of the study and its major findings.     

Enhancement of acetylcholine release by homoanatoxin-a from Oscillatoria formosa

The strain NIVA-CYA 92 of Oscillatoria formosa Bory ex Gormont produces phycotoxins with neurotoxic properties. Chemical analysis by gas chromatography/mass spectrometry of a water extract of lyophilized material of the organism showed the presence of only homoanatoxin-a. The mechanism of action of homoanatoxin-a on peripheral cholinergic nerves is so far not known. The neurotoxicity of O. formosa containing homoanatoxin-a was investigated in rat bronchi, rat brain synaptosomes and in GH(4)C(1) cells. The water extract of lyophilized material of the organism produced a concentration-dependent reversible increase in the release of [(3)H]acetylcholine from both K(+) (51 mM) depolarised and non-depolarised cholinergic nerves of the rat bronchial smooth muscle. The K(+)-evoked release of [(3)H]acetylcholine was enhanced by about 75% by a water extract from 15-20 mg/ml of lyophilized algal material. The enhanced release of [(3)H]acetylcholine was substantially reduced by the L-type Ca(2+)-channel blocker verapamil (100 μM) and not by the N-type Ca(2+)-channel blocker ω-conotoxin GVIA (1.0 μM) or the P-type Ca(2+)-channel blocker ω-agatoxin IV-A (0.2 μM). Chelation of intra-cellular Ca(2+) by 1,2-bis-(aminofenoxi)etan-N,N,N',N'-tetraacidic acid/acetoxymethyl (BAPTA/AM) (30 μM) had no effect on the phycotoxin-induced release of [(3)H]acetylcholine, indicating that an extracellular pool of Ca(2+) was important for the action of the phycotoxin on the release of [(3)H]acetylcholine from peripheral cholinergic nerves. In rat brain synaptosomes the algal extract enhanced the influx of (45)Ca(2+) in a tetrodotoxin (1.0 μM) and ω-conotoxin MVIIC (blocker of N-, P- and Q-type Ca(2+) channels) (1.0 μM) insensitive manner. Patch-clamp studies showed that the phycotoxin opened endogenous voltage dependent L-type Ca(2+) channels in neuronal GH(4)C(1) cells. These Ca(2+) channels and the effect of the toxin on the channels were blocked by the L-type Ca(2+)-channel antagonist gallopamil (200 μM). The present results suggest, therefore, that the investigated strain of O. formosa contains homoanatoxin-a, which enhances the release of acetylcholine from peripheral cholinergic nerves through opening of endogenous voltage dependent neuronal L-type Ca(2-) channels.     

Release of intracellular enzymes from cutaneous cells after non-necrotizing damage by ultraviolet light

Summary Experimental blisters were produced with suction on normal human skin and simultaneously on skin inflamed after exposure to middle wave ultraviolet light. Total proteins and marker enzymes for the plasma membrane, cytosol, lysosomes, peroxisomes, mitochondria, and microsomes were assayed in the blister fluid. In blisters on erythematous skin, a large increase of lactate dehydrogenase from cytosol was noted. A small increase of the plasma membrane marker phosphodiesterase I and some increase of -mannosidase from lysosomes was also found. No significant increase in total proteins or in the markers for peroxisomes was observed, whereas mitochondrial and microsomal marker enzymes were not detectable.It is concluded that cutaneous cells to some extent may lose intracellular enzymes without visible signs of irreversible damage (necrosis), but that an UVB-induced injury/regeneration cycle probably explains the enzyme release.     

Increased levels of intercellular adhesion molecules and vascular cell adhesion molecules in pre-eclampsia

Objective To investigate the correlation between soluble forms of the intercellular adhesion molecule (SICAM-1) and vascular cell adhesion molecule (sVCAM-1) and the severity of pre-eclampsia or its possible consequences for fetal growth.
Design Prospective observational study.
Setting Institute of Medical Genetics, University of Oslo, Department of Medical Genetics and Haematological Research Laboratory, Ullevål University Hospital; and the Department of Obstetrics and Gynaecology, The National Hospital, Oslo, Norway.
Participants Seventy-six women with normotensive pregnancies and 157 women with pre-eclampsia divided into three subgroups: mild, severe and pre-eclampsia with fetal growth retardation.
Methods ELISA-measurements of plasma SICAM-1 and sVCAM-1 were performed in a group of healthy pregnant normotensive women and three groups of women with varying degrees of pre-eclampsia.
Results SICAM-1 concentrations were higher in the pre-eclampsia group compared with the control group, but this difference was not statistically significant. Plasma concentrations of sVCAM-1 were significantly greater ( P < 0.0001) in all pre-eclampsia subgroups (835.34, 855.25 and 964.05 ng/mL) compared with the control group (667.62 ng/mL). Within the pre-eclampsia group, plasma concentration of sVCAM-1 was significantly higher in the subgroup exhibiting fetal growth retardation ( P = 0.03) compared with mild pre-eclampsia.
Conclusion The observed increases in plasma concentrations of sVCAM-1 suggest that measurements of this adhesion molecule may be useful in monitoring pregnancies with respect to the development of pre-eclampsia or fetal growth retardation.     

广州队列研究生物库中条形码技术应用与评价

目的建立大规模人群的分子流行病学队列研究生物库，确保快速、准确地识别每一份生物样本，并保持其活性，以便长时间跟踪研究。方法采用条形码识别技术对血液样品的采集、处理及存储、查询过程进行全程管理。结果创建成功以条形码自动识别技术为核心的新型运作管理模式，建立起10000人份的生物样品库。大型生物样本库实施条形码管理系统可缩短每份样品的处理时间，提高工作效率1．5倍。结论条形码技术的应用可有效地避免样品间的相互混淆，使实验室每一项工作准确、可靠、高效，实现医学研究工作全面信息化，提高基因队列研究的质量。     

Alcohol dehydrogenase 3 and risk of squamous cell carcinomas of the head and neck.

In order to examine the association between alcohol dehydrogenase 3 (ADH3) genotypes and risk of head and neck squamous cell carcinomas (HNSCC), we conducted a hospital based case-control study including 348 cases and 330 controls. DNA isolated from exfoliated cells from the oral cavity were genotyped for ADH3 polymorphisms using PCR followed by SspI digestion. Odds ratios (OR) and hazards ratios (HR) were done by unconditional logistic regression and Cox regression. Relative to ADH3(2-2) carriers, ADH3(1-1) [OR, 0.7; 95% confidence interval (CI), 0.4-1.1] and ADH3(1-2) (OR, 0.8; 95% CI, 0.5-1.2) had a nonsignificant reduced risk of HNSCC. ADH(1-2) smokers of >30 pack-years were at decreased risk of oral cavity squamous cell carcinomas compared with ADH3(2-2) (OR, 0.3, 0.1-0.9), whereas ADH3(1-1) smokers were not. After adjustment, those with ADH3(1-2) had significantly worse overall survival compared with ADH3(1-1) (HR, 0.3, 0.2-0.6) or ADH3(2-2) (HR, 0.4, 0.2-0.9) and increased recurrence (ADH3(1-1), 0.2, 0.1-0.6; ADH3(2-2), 0.6, 0.2-1.3). Our data did not show that ADH3 genotypes had a significantly independent effect on the risk of HNSCC, nor did they modify the risks increased by alcohol or tobacco consumption and high-risk human papillomavirus infection. However, participants with ADH3(1-2) genotype were associated with poorer survival compared with those who had the other two ADH3 genotypes and a higher rate of recurrence than participants with ADH3(1-1) genotype.