SARS-CoV-2 has rapidly spread worldwide since December 2019. Obviously, pregnant and lactating women will also be infected with SARS-CoV-2. Pregnant women, however, are a risk population for developing severe respiratory infections. Currently, the knowledge on potential risks and consequences of COVID-19 during pregnancy and lactation is limited. Available data show that pregnant women suffer from similar symptoms compared to non-pregnant patients. There is no evidence as yet that COVID-19 has a more serious course during pregnancy. Although pregnant women might suffer from a wide variety of symptoms, most of them are asymptomatic. Maternal SARS-CoV-2 infection might lead to adverse neonatal outcomes, such as prematurity or respiratory symptoms. There is currently no conclusive evidence of absence of intrauterine transmission of the virus; the virus has not been detected in breastmilk in most studies, although passage into breastmilk cannot be completely excluded.Transient visual phenomena in later life due to a visual aura in migraine are not uncommon and can also occur without headache. This migraine with aura is not always recognized as such. Since visual phenomena can also have a variety of other causes, they can present a diagnostic dilemma in both primary and secondary care. Visual aura phenomena have various and often complex manifestations and are usually observed binocularly. In case of transient visual phenomena, the patient's history is of utmost importance to determine whether there is a mono- or binocular cause of the complaints. Timely recognition of visual phenomena in the context of migraine can prevent unnecessary diagnostics and treatments.The buried bumper syndrome (BBS) is a rare complication of percutaneous endoscopic gastrostomy (PEG). Hereby the internal PEG bumper is overgrown by hypertrophic gastric mucosa and embedded into the gastric wall. Most often an endoscopic approach to remove the bumper is successful. If not, an operative removal of the plate is necessary. In this paper, we present a case of a patient in whom a BBS was diagnosed. Besides the therapeutic options to treat a BBS, in this paper we want to focus on the prevention of this complication. Consideration needs to be given as to how long after the procedure should it be loosened to prevent BBS. The distance a PEG tube is advanced and whether it should be rotated is crucial in order to prevent BBS.Many healthcare providers agree that reduction or stopping of medication, so-called deprescribing, would be good in vulnerable people with polypharmacy. However, deprescribing is not yet widely conducted. Physicians and pharmacists experience barriers, such as lack of evidence and guidance to support this process. There is also a tendency to maintain the status quo when there are no acute problems. Patients do want fewer pills but the proposal to stop certain medication can lead to resistance or confusion. The needs and concerns from a patient's perspective are a good starting point for desprescribing. It is important to set new goals and to prioritize together which medication can be stopped. It is not only relevant to react to existing problems but also to act proactively when the potential benefits no longer outweigh the medication burden or risks. Recently, more guidance and tools to support deprescribing became available in the Netherlands.Introduction of new genetic test technologies in the last decade have accelerated genetic diagnosis in many medical specialties and have increased diagnostic yield considerably. SNP-arrays have been established as first tier diagnostic tools, more and more being replaced by next generation sequencing strategies, like targeted genomic panels and whole exome sequencing. We present the diagnostic work-up of a clinical case, a girl with congenital vertebral and rib anomalies. This case illustrates the complexity of genetic tests and the need for knowledge and experience to interpret the results. Intensive collaboration between pediatrician, clinical geneticist and laboratory specialist is mandatory, as is long-term commitment to involve parents in the diagnostic journey . Rare studies focused on the tandem mass spectrometry (MS/MS) findings for the primary carnitine deficiency (PCD) in the neonates in China mainland. In this study, we aim to analyze the gene mutation spectrum of PCD in Fujian Province in China mainland. Primary carnitine deficiency (PCD) samples used in this study were selected from 95,453 cases underwent neonatal screening between May 2015 and February 2020. SLC22A5 gene sequencing was performed on the neonates and their parents with C0 level of less than 8.8μmol/L. Ten patients (male 7; female 3) were finally included in this study. Among these patients, nine were neonates, and one was maternal decline of C0 of less than 8.8μmol/L. The maternal case showed two types of mutations of SLC22A5 including c.760C>T(p.R254*) and c.1400C>G(p.S467C). read more The other nine neonates showed compound mutations involving nine types in 18 sites, among which two mutations [i.e., c.37G>T(p.E13*) and c.694A>G(p.T232A)] were novel that had never been reported before. Bioinformatic analysis indicated that c.37G>T(p.E13*) was a pathogenic mutation, while the c.694A>G (p.T232A) was considered to be likely pathogenic. MS/MS screening on PCD contributed to the early diagnosis and screening. In addition, SLC22A5 gene mutation analysis contributed to the PCD screening.MS/MS screening on PCD contributed to the early diagnosis and screening. In addition, SLC22A5 gene mutation analysis contributed to the PCD screening. Disparities in colon cancer (CC) outcomes may be due to a more aggressive phenotype in African American patients in the setting of a decreased tumor immunity, though the precise mechanism for this result has not been well elucidated. To explore the molecular factors underlying CC disparities, we compared the immunogenomic signatures of CC from African American and European American patients. We identified all CC patients from the publicly available Cancer Genome Atlas for whom race and survival data are available. Immunophenotype signatures were established for African American and European American patients. Comparisons were made regarding survival and a multivariable linear regression model was created to determine the association of immune cellular components with race. Differential gene expression was also assessed. Of the 254 patients identified, 58 (23%) were African American and 196 (77%) were European American. African American patients had a decreased progression free survival (p=0.04). Tumors from African American patients displayed a reduced fraction of macrophages and CD8 T cells and an increased fraction of B cells compared with tumors from European Americans.