Notes

Girl or boy variation between experts in leading medical journals in the COVID-19 outbreak: a cross-sectional assessment.
A likely relationship between the novel GABRB3 gene variant and the clinical manifestations presented by the girl is proposed. Previously, one case of DS and two of DS-like linked with GABRB3 mutations have been reported. To the best of our knowledge, this is the first report of DS associated with this novel variant. A literature review of clinical cases with various types of epileptic encephalopathies (EEs) related to GABRB3 mutations is reported.We report a patient with phenotypic semblance to the congenital microgastria-limb reduction association (MLRD). Our patient presented with microgastria, bilateral upper limb anomalies, asplenia, solitary kidney, and mild micrognathia. In addition to the anomalies seen in our patient, MLRD has been associated with respiratory, cardiovascular, and central nervous system anomalies. MLRD is thought to arise from a developmental field defect during embryonic weeks five and six; however, no genetic cause has been elucidated. Along with our patient presentation, we review the literature to further our understanding of the MLRD phenotype spectrum.Non-small cell lung cancer (NSCLC) is the leading cause of cancer death and in most cases it is often diagnosed at an advanced stage. Many genetic and microenvironmental factors are able to modify the cell cycle inducing carcinogenesis and tumor growth. Among the metabolic and genetic factors that come into play in carcinogenesis and tumor cell differentiation and growth there are two different proteins that should be considered which are glucose transporters (GLUTs) and p16INK4 The first are glucose transporters which are strongly involved in tumor metabolism, notably accelerating cancer cell metabolism both in aerobic and anaerobic conditions. learn more There are different subtypes of GLUT family factors of which GLUT 1 is the most important and widely expressed. By contrast, p16 is mainly a tumor-suppressor protein that acts on cyclin-dependent kinase favoring cell cycle arrest in the G1 phase. Our search focused on the action of the aforementioned factors.
The cause of chronic nausea can be difficult to diagnose. Idiopathic rapid gastric emptying (iRGE) can cause nausea, but limited literature exists on clinical and pathophysiological features. In contrast, dumping syndrome or post-surgical rapid gastric emptying (psRGE) is well-known and may present with early phase vasomotor symptoms, diarrhea, and late phase reactive hypoglycemia. Our aim is to compare clinical and gastric motility characteristics in patients with iRGE and psRGE and unexplained chronic nausea.

A retrospective study was conducted on patients with unexplained chronic nausea and RGE (<30% retention of a standard isotope-labeled solid meal at 1-h). Gastric myoelectrical activity (GMA) was recorded during water load satiety tests (WLST) using validated electrogastrogram (EGG) recording methods.

Thirty iRGE and sixteen psRGE patients with unexplained chronic nausea were identified; average 1-hour meal retention was 18.6% and 16.2%, respectively. Nausea, bloating, early satiety, and bowel function were similar in the two groups; fewer iRGE patients had abdominal pain and none had vasomotor symptoms. Normal 3cpm GMA was recorded in 44% of iRGE vs 29% of psRGE, tachygastria in 13% vs 43%, bradygastria in 25% vs 14%, and mixed in 19% vs 14% (p values >0.05). Abnormal WLST volume (<300ml) was found in 69% of iRGE and 43% of psRGE (p=0.36).

(a) iRGE and psRGE patients may present with unexplained chronic nausea rather than classic vasomotor symptoms and diarrhea. (b) iRGE and psRGE patients had similar gastric dysrhythmias and accommodation dysfunction, which may contribute to RGE.
(a) iRGE and psRGE patients may present with unexplained chronic nausea rather than classic vasomotor symptoms and diarrhea. (b) iRGE and psRGE patients had similar gastric dysrhythmias and accommodation dysfunction, which may contribute to RGE.
Depression is frequently underdiagnosed and insufficiently treated in psoriatic patients in their daily routine. The aim of this study was to screen and analyze the impact of patient and disease characteristics on depression scores.

In this cross-sectional multicenter cohort study, adult psoriasis patients were screened for depression with two validated tools the Whooley questions and the revised Beck Depression Inventory (BDI-II).

Overall, 538 patients (median PASI 3.0, mean DLQI 5.3) were screened for depressive symptoms (mean BDI-II score 8.3). 24.2% of all participants reached a BDI-II score ≥13, suggesting a depression that was at least mild. The results of the Whooley questions were positive for 28.2% of the patients. There was a strong correlation between the two tools (p<0.001). In the subgroup with a BDI-II score ≥13, disease activity (median PASI 3.8 vs. 2.8, p=0.06) and DLQI scores (mean 10.1 vs. 3.7, p<0.0001) were higher, and psoriatic arthritis and diabetes were more prevalent (52.6% vs. 37.8%, p=0.002, and 16.2% vs. 10.0%, p=0.04, respectively) than in the subgroup with a BDI-II score <13.

In specialized psoriatic outpatient clinics, a BDI-II score ≥13 was present in almost every fourth patient despite a low median PASI. The Whooley questions might be easy to use as a screening tool for depression in psoriasis patients.
In specialized psoriatic outpatient clinics, a BDI-II score ≥ 13 was present in almost every fourth patient despite a low median PASI. The Whooley questions might be easy to use as a screening tool for depression in psoriasis patients.Self-care is essential in the long-term management of chronic heart failure. Heart failure guidelines stress the importance of patient education on treatment adherence, lifestyle changes, symptom monitoring and adequate response to possible deterioration. Self-care is related to medical and person-centred outcomes in patients with heart failure such as better quality of life as well as lower mortality and readmission rates. Although guidelines give general direction for self-care advice, health care professionals working with patients with heart failure need more specific recommendations. The aim of the management recommendations in this paper is to provide practical advice for health professionals delivering care to patients with heart failure. Recommendations for nutrition, physical activity, medication adherence, psychological status, sleep, leisure and travel, smoking, immunization and preventing infections, symptom monitoring, and symptom management are consistent with information from guidelines, expert consensus documents, recent evidence and expert opinion.Nasopharyngeal gliomas are congenital masses of heterotopic glial tissue. Our case report describes an infant with respiratory distress produced by a nasopharyngeal glioma with a persistent craniopharyngeal canal (CPC). The identification of CPC is important for medical and surgical management of possible pituitary dysfunction and preventing operative and post-operative complications.Kidney replacement therapy (KRT) is a common supportive treatment for renal dysfunction, especially acute kidney injury. However, critically ill or immunosuppressed patients with renal dysfunction often have dysfunction in other organs as well. To improve patient outcomes, clinicians began to initiate kidney replacement therapy in situations where nonrenal conditions may lead to acute kidney injury, such as septic shock, hematopoietic stem cell transplantation, veno-occlusive renal disease, cardiopulmonary bypass, chemotherapy, tumor lysis syndrome, hyperammonemia, and various others. In this review, we discuss the use of various modes of kidney replacement therapy in treating renal and nonrenal complications to illustrate why kidney support therapy is a more appropriate terminology than kidney replacement therapy.
To assess the effects of social distancing and social isolation policies triggered by COVID-19 on alcohol consumption using wastewater analysis in Adelaide, South Australia.

Longitudinal quantitative analysis of influent wastewater data for alcohol concentration.

Adelaide, South Australia.

Wastewater catchment area representative of 1.1 million inhabitants.

Twenty-four hour composite influent wastewater samples were collected from four wastewater treatment plants in Adelaide, South Australia for 7 consecutive days (Wednesday-Tuesday) every 2 months from April 2016-April 2020. The alcohol metabolite ethyl sulfate was measured in samples using chromatography-tandem mass spectrometry. Data were population-weighted adjusted with consumption expressed as standard drinks/day/1000 people. Weekly consumption and weekend to mid-week consumption ratios were analysed to identify changes in weekday alcohol use pattern.

Estimated weekend alcohol consumption was significantly lower (698 standard drinks/day/1000 people) after self-isolation measures were enforced in April 2020 compared with the preceding sampling period in February 2020 (1047 standard drinks/day/1000 people), P<0.05. Weekend to midweek consumption ratio was 12% lower than the average ratio compared with all previous sampling periods. April 2020 recorded the lowest alcohol consumption relative to April in previous years, dating back to 2016.

Wastewater analysis suggests that introduction of social distancing and isolation policies triggered by COVID-19 in Adelaide, South Australia, was associated with a decrease in population-level weekend alcohol consumption.
Wastewater analysis suggests that introduction of social distancing and isolation policies triggered by COVID-19 in Adelaide, South Australia, was associated with a decrease in population-level weekend alcohol consumption.Ibrutinib may inhibit intestinal CYP3A4 and induce CYP2B6 and/or CYP3A. Secondary to potential induction, ibrutinib may reduce the exposure and effectiveness of oral contraceptives (OCs). This phase I study evaluated the effect of ibrutinib on the pharmacokinetics of the CYP2B6 substrate bupropion, CYP3A substrate midazolam, and OCs ethinylestradiol (EE) and levonorgestrel (LN). Female patients (N = 22) with B-cell malignancies received single doses of EE/LN (30/150 μg) and bupropion/midazolam (75/2 mg) during a pretreatment phase on days 1 and 3, respectively (before starting ibrutinib on day 8), and again after ibrutinib 560 mg/day for ≥ 2 weeks. Intestinal CYP3A inhibition was assessed on day 8 (single-dose ibrutinib plus single-dose midazolam). Systemic induction was assessed at steady-state on days 22 (EE/LN plus ibrutinib) and 24 (bupropion/midazolam plus ibrutinib). The geometric mean ratios (GMRs; test/reference) for maximum plasma concentration (Cmax ) and area under the plasma concentration-time curve (AUC) were derived using linear mixed-effects models (90% confidence interval within 80%-125% indicated no interaction). On day 8, the GMR for midazolam exposure with ibrutinib coadministration was ≤ 20% lower than the reference, indicating lack of intestinal CYP3A4 inhibition. At ibrutinib steady-state, the Cmax and AUC of EE were 33% higher than the reference, which was not considered clinically relevant. No substantial changes were noted for LN, midazolam, or bupropion. No unexpected safety findings were observed. A single dose of ibrutinib did not inhibit intestinal CYP3A4, and repeated administration did not induce CYP3A4/2B6, as assessed using EE, LN, midazolam, and bupropion.
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