Impact of outbreak COVID-19 pandemic on psychiatry emergencies in Spain.

The SARS-CoV-2 pandemic has caused an unprecedented clinical situation. A retrospective cross-sectional study was designed with the aim to evaluate psychiatric emergencies from March 14 to May 1, 2020, coinciding with the start of the emergency state and the lockdown until the attenuation of the confinement. Data obtained during this period were compared with the emergencies attended in the same period of 2019. A total of 213 psychiatric emergencies were attended in 2020 compared with 367 in 2019. The mean number of emergencies per day was significantly lower during the COVID-19 outbreak in 2020 (M=4.35, SD= 2.04) vs. the same period in 2019 (M=7.50, SD= 3.18). A higher percentage of patients with schizo/psychotic disorders (34.3% in 2020, vs. 24.3% in 2019), as well as a lower percentage of patients with anxiety/adaptive disorders (25.4% in 2020 vs. 35.4% in 2019) was observed during the outbreak. A significant lower mean discharge/emergency ratio (M=42.17, SD= 26.94 in 2020 vs. M=63.43, SD= 17.64 in 2019) and a higher referral to Internal Medicine/emergency ratio (M=20.55, SD= 22.16 in 2020 vs. M=3.32, SD= 6.63 in 2019) was observed. The results suggest important changes in psychiatric emergencies during the most critical period of the COVID-19 outbreak in Spain.

High frequency of CYP2D6 ultrarapid metabolizer genotypes in an Ashkenazi Jewish population from Argentina.

A twofold higher frequency of CYP2D6 ultrarapid metabolizers (estimated from genotype: gUMs) was reported among Ashkenazi Jews (AJ) living in New York (USA) than in other North American Caucasians, which might be important to guide the prescription for CYP2D6 substrates in AJ communities around the world. This study was aimed to determine whether the high frequency of CYP2D6 gUMs described in AJ from USA was replicated in AJ from Argentina when compared with other multiethnic admixture Argentines (GA). The frequency of the most common allelic variants and of CYP2D6 gUMs (>2 active genes) and poor metabolizers (0 active genes, gPMs) was also compared among the studied Argentine populations. CYP2D6 genotyping was performed in 173 AJ and 246 GA DNA samples of unrelated donors from the metropolitan area of Buenos Aires. CYP2D6 alleles (*2, *3, *4, *5, *6, *10, *17, *35, *41 and multiple copies), genotypes and functional phenotype frequencies were determined. The frequencies of gUMs and gPMs in AJ from Argentina were 11.5% and 5.2%, respectively, whereas in GA, the frequencies of gUM and gPMs were 6.5% and 4.9%, respectively. Comparisons between AJ and GA showed that gUMs frequencies were twofold higher (P<0.05) in AJ than GA. CYP2D6*35 allele was more frequent in GA than AJ, whereas CYP2D6*41 and *1xN were more frequent in AJ than in GA (P<0.05). This study supports the previously reported high frequency of gUMs on another Ashkenazi population in New York. The present findings also support the interethnic variability of CYP2D6 genetic polymorphism in the overall Argentine population.

Detection of deletions and duplications in the Duchenne muscular dystrophy gene by the molecular method MLPA in the first Argentine affected families.

Deletions/duplications in the Duchenne muscular dystrophy (DMD) gene account for 60 to 70% of all alterations. A new technique, multiplex ligation-dependent probe amplification (MLPA), has been described that allows the detection of large genetic rearrangements by simultaneous amplification of up to 45 target sequences. The present article is based on the diagnosis of the first Argentine affected families by the application of MLPA. DNA samples from patients with and without a previous diagnosis were included. MLPA assays were performed according to manufacturer recommendations. Polymerase chain reaction and direct sequencing were performed when a single-exon deletion was detected. Results were analyzed using the Gene Marker v1.6 and Sequencing Analysis v5.2 software. In the samples with a previous diagnosis (as identified by short tandem repeat-polymerase chain reaction analysis), MLPA confirmed in some samples the same deletion and detected in others a larger deleted fragment. This enabled the prediction of the expected male phenotype. One deletion and one duplication were detected in patients without previous diagnosis. In this study, we investigated the applicability of MLPA in our country. Our results showed a 100% confirmation of the deleted fragments detected by short tandem repeat segregation analysis. Moreover, in some cases, the MLPA assay was able to refine the breakpoints involved. In addition, MLPA identified deletions/duplications in samples without previous diagnosis. In comparison to the available diagnosis strategies in Argentina, MLPA is less time-consuming, and spans the complete coding region of DMD. The application of MLPA will improve the genetic diagnosis of DMD/Becker muscular dystrophy in our country.

Detection of deletions and duplications in the Duchenne muscular dystrophy gene by the molecular method MLPA in the first Argentine affected families

Deletions/duplications in the Duchenne muscular dystrophy (DMD) gene account for 60 to 70% of all alterations. A new technique, multiplex ligation-dependent probe amplification (MLPA), has been described that allows the detection of large genetic rearrangements by simultaneous amplification of up to 45 target sequences. The present article is based on the diagnosis of the first Argentine affected families by the application of MLPA. DNA samples from patients with and without a previous diagnosis were included. MLPA assays were performed according to manufacturer recommendations. Polymerase chain reaction and direct sequencing were performed when a single-exon deletion was detected. Results were analyzed using the Gene Marker v1.6 and Sequencing Analysis v5.2 software. In the samples with a previous diagnosis (as identified by short tandem repeat-polymerase chain reaction analysis), MLPA confirmed in some samples the same deletion and detected in others a larger deleted fragment. This enabled the prediction of the expected male phenotype. One deletion and one duplication were detected in patients without previous diagnosis. In this study, we investigated the applicability of MLPA in our country. Our results showed a 100% confirmation of the deleted fragments detected by short tandem repeat segregation analysis. Moreover, in some cases, the MLPA assay was able to refine the breakpoints involved. In addition, MLPA identified deletions/duplications in samples without previous diagnosis. In comparison to the available diagnosis strategies in Argentina, MLPA is less time-consuming, and spans the complete coding region of DMD. The application of MLPA will improve the genetic diagnosis of DMD/Becker muscular dystrophy in our country.

Rabdomiólisis grave por virus Coxsackie B complicada con síndrome compartimental / Serious rhabdomyolysis dueto Coxsackie B virus complicated with compartment syndrome

La rabdomiólisis como complicación de un síndrome compartimental agudo es algo habitual, pero lo contrario es infrecuente. Presentamos el caso de un hombre de 74 años con una infección aguda por virus Coxsakie B que desarrolló una rabdomiólisis con un nivel de creatinfosfocinasa (CPK) máximo de 161.757 UI/l. Se complicó con un fracaso renal agudo y con un síndrome compartimental de la pierna derecha. La función renal se normalizó en unas semanas, pero a consecuencia del síndrome compartimental desarrolló un pie equino, a pesar de la realización de fasciotomías, precisando una ortesis para deambular. El síndrome compartimental es una complicación a tener en cuenta en rabdomiólisis graves, porque puede pasar desapercibida con facilidad, y se puede asociar a secuelas

Rhabdomyolysis as a complication of an acute compartimental syndrome is somewhat common, but on the contrary, is rare. We present the case of a 74 year man with acute infection by Coxsackie B virus who developed a rhabdomyolysis with a maximum CPK of 161, 757 IU/l. It became complicated with acute renal failure and compartment syndrome of the right leg. Renal function normalized in a few weeks, however, due to the compartment syndrome, he developed an equinus foot in spite of the performance of fasciotomies and required an orthesis to walk. Compartment syndrome is a complication to be considered in serious rhabdomyolysis because it may go unnoticed easily and can be associated to sequels

Occurrence of Salmonella spp in estuarine and coastal waters of Portugal.

The presence of Salmonella and its relationship with indicator organisms of fecal pollution, such as total coliforms, fecal coliforms and fecal streptococci, was studied at two marine zones in Portugal. Seventeen different Salmonella serotypes were isolated and identified, S. virchow was the most frequently isolated (21.6%). In addition, a high percentage (35.1%) was recorded for some Salmonella serotypes of clinical significance, namely S. enteritidis, S. infantis, S. typhimurium and S. virchow. In any of the samples from the two zones Salmonella was not detected in the absence of any of the indicator organisms. However, the incidence of Salmonella as a function of indicator concentration intervals established by the EEC standards was 0, 10 and 19.3% at guide values of total coliforms, fecal coliforms and fecal streptococci, respectively in the Faro samples (south of Portugal). In contrast, Salmonella incidence rates of 37.5, 36.4 and 33.3% were recorded at the corresponding guide values the Caminha samples (north of Portugal). No significant correlations (p>0.005) were obtained between Salmonella and the indicators at the sampling stations; however, total coliforms and fecal streptococci were the indicators most closely related to Salmonella in Caminha and Faro samples, respectively. Survival experiments in Escherichia coli, Enterococcus faecalis and S. typhimurium, using diffusion chambers, were performed to verify whether the lack of correlation between indicators and Salmonella was due to different inactivation rates in seawater. The results indicate that survival percentages of the three microorganisms tested were similar after 48 h of exposure to seawater.