A Unique Case of MBD5 and CCM2 Deletions Leading to a Severe Neurological Phenotype With Prolonged Status Epilepticus.

Heterozygous pathogenic variants in MBD5 (MIM*611472) and CCM2 (MIM*607929) cause autosomal dominant intellectual developmental disorder 1 (MIM#156200) and cerebral cavernous malformations-2 (MIM#603284), respectively. Both conditions may present with seizures, epilepsy, and status epilepticus. However, super-refractory status epilepticus, defined as seizures lasting more than 24 h, has not been described in either condition.

Clinical Efficacy of SARS-CoV-2 Vaccination in Hemodialysis Patients.

Introduction: The COVID-19 pandemic is a global public health problem. Patients with end-stage renal disease on hemodialysis are at a higher risk of infection and mortality than the general population. Worldwide, a vaccination campaign has been developed that has been shown to reduce severe infections and deaths in the general population.

Survival study and factors associated with mortality in Chilean patients on peritoneal dialysis infected with SARS-CoV-2.

The Covid-19 pandemic has been responsible for millions of deaths worldwide. Patients with comorbidities- such as those on peritoneal dialysis (PD)- present higher morbidity and mortality than the general population. We prospectively evaluated all Chilean patients on PD (48 centres) and followed those who had Covid-19 from the beginning of the Covid-19 pandemic in Chile (March 2020) to January 2021 (start of vaccination campaign).

Analysis of Multi-Pesticide Residues and Dietary Risk Assessment in Fresh Tomatoes () from Local Supermarkets of the Metropolitan Region, Chile.

In recent years, the official authorities in Chile have reported transgressions in the maximum residue levels of pesticides in fresh vegetables. There is no official information about traceability, pesticide levels, and potential health risks. The aim of this study was to analyse pesticide residues and their corresponding dietary risk assessments in tomatoes from supermarkets in the Metropolitan Region.

[Carbapenemases in Pseudomonas aeruginosa with decreased susceptibility to carbapenems after a decade: from VIM to KPC].

Background: Pseudomonas aeruginosa is a relevant infectious agent affecting patients within health care setting; this situation is worsening with the appearance of strains resistance to carbapenems.

Aims: To study carbapenemase production in P. aeruginosa with decreased susceptibility to carbapenems processed in the microbiology laboratory of the Health Network UC-CHRISTUS in 2014-2015 and compare them with the strains studied in 2004-2005.

Pesticide Residues and Health Risk Assessment in Tomatoes and Lettuces from Farms of Metropolitan Region Chile.

Over the last years, the detection of pesticide residues in the official food surveillance programs of Chile has been increased, mainly in fresh vegetables such as tomatoes and lettuces. The Metropolitana Region of Chile presents the highest detections in the country. The lack of evaluations of toxicological risks in human health have increased uncertainty of the potential effects of pesticides exposures in the Chilean population.

Pesticide residues in ready-to-eat leafy vegetables from markets of Santiago, Chile, and consumer's risk.

The detection of pesticide residues in leafy vegetables has been a relevant concern in Chile over the last years. There is also a priority at the national level to propose a methodology to assess health risks. The aim of this study was to evaluate the presence of pesticide residues in ready-to-eat leafy vegetables in order to evaluate different models for health risk assessment.

[Hemobilia secondary to hepatic artery pseudoaneurysm].

Hemobilia is defined as the presence of blood in the biliary tree characterized by the triad: jaundice, right hypochondrium pain (RH) and upper gastrointestinal bleeding (UGB). Among the etiologies highlighted in order of frequency there are: liver trauma (accidental and iatrogenic), inflammatory causes (acute and chronic cholecystitis), infections (cholangitis, liver abscesses, parasitic infections) and vascular diseases (aneurysms, vasculitis, arteriovenous malformations). There exist many complementary tests for the diagnosis of hemobilia, such as imaging (abdominal ultrasound, CT scan, angio CT), videoendoscopy, endoscopic retrograde cholangiopancreatography and angiography, the latter being considered the diagnostic tool and therapeutic modality of choice.

Accuracy of diffusion-weighted imaging in the diagnosis of stroke in patients with suspected cerebral infarct.

Background And Purpose: The accuracy of diffusion-weighted imaging (DWI) for the diagnosis of acute cerebral ischemia among patients with suspected ischemic stroke arriving to an emergency room has not been studied in depth.

Methods: DWI was performed in 712 patients with acute or subacute focal symptoms that suggested an acute ischemic stroke (AIS), 609 of them with AIS.

Results: DWI demonstrated a sensitivity of 90% and specificity of 97%, a positive likelihood ratio of 31 and a negative likelihood ratio of 0.

Early steroid withdrawal in pediatric renal transplant: five years of follow-up.

This prospective, comparative trial investigated the impact on mean change in height standard deviation score (SDS), acute rejection rate, and renal function of early steroid withdrawal in 96 recipients with 5 years of follow-up. Recipients under basiliximab induction and steroid withdrawal (SW: TAC/MMF; n = 55) were compared with a matched steroid control group (SC: TAC/MMF/STEROID, n = 41). SW received steroids until Day 6, SC decreased to 10 mg/m(2) within 2 months post-transplant.

[Validation of transcranial Doppler in the diagnosis of brain death].

Background: The clinical diagnosis of brain death is complex.

Aim: To evaluate the diagnostic accuracy of transcranial Doppler (TCD) for brain death.

Patients And Methods: Patients seen on the intensive care unit of a private hospital between January 2004 to December 2008, were included if they were in structural coma, had no craniectomy and had a blind evaluation by a neurologist and TCD done in less than three hours.

Accuracy of transcranial Doppler compared with CT angiography in diagnosing arterial obstructions in acute ischemic strokes.

Background And Purpose: Patients with acute ischemic stroke and intracranial arterial obstructions have a poor prognosis and a high probability of deteriorating at 24 hours. We aimed to evaluate the diagnostic accuracy of power motion mode Doppler (PMD-TCD) compared with CT angiography as standard in diagnosing intracranial arterial obstructions in patients presenting with ischemic stroke of <24 hours.

Methods: Consecutive patients presenting with acute ischemic stroke to the emergency department underwent high-resolution brain CT angiography and PMD-TCD within a 6-hour difference.

Chronic pancreatitis and systemic lupus erythematosus: an uncommon association.

The association between systemic lupus erythematosus (SLE) and chronic pancreatitis (CP) is extremely rare. Up to now, only six cases have been reported. We report the case of a young woman who presented her first episode of abdominal pain and hyperamylasemia at the onset of SLE and developed chronic calcifying pancreatitis after a two year period.

Early steroid withdrawal in pediatric renal transplant on newer immunosuppressive drugs.

Steroids have been a cornerstone in renal transplant immunosuppression. New immunosuppressive drugs have led to protocols using early steroid withdrawal or complete avoidance. A prospective protocol in 23 pediatric renal transplant (ages 2-14 yr) who received decreasing steroid doses stopping at day 7 post-Tx, FK, and MMF were compared with a CsA, AZT, historically matched steroid-based control group.

Renal osteodystrophy in pediatric patients on peritoneal dialysis.

Renal osteodystrophy (ROD) is one of the mostfrequent complications in pediatric uremic patients on peritoneal dialysis (PD), and each case requires a different therapeutic approach. In the present study, we characterized ROD in pediatric patients on chronic PD. We studied 20 patients (12 boys, 8 girls) for a 12-month period.

Peritoneal dialysis in chronic renal failure patients over 65 years of age.

The number of patients over 65 years of age with chronic renal failure has increased. Peritoneal dialysis (PD) is an effective mode of treatment for such patients. In the present study, we report our experience with automated PD in patients over 65.

Asymmetric hetero-Diels-Alder reaction catalyzed by dirhodium(II) carboxamidates.

Chiral dirhodium(II) carboxamidates are highly efficient catalysts for reactions between a variety of aldehydes and activated dienes. Catalyst loadings as low at 0.01 mol % have been realized with enantioselectivities up to 97%.

Total synthesis of (S)-(+)-imperanene. Effective use of regio- and enantioselective intramolecular carbon-hydrogen insertion reactions catalyzed by chiral dirhodium(II) carboxamidates.

The total synthesis of (S)-(+)-imperanene, a natural product found in Chinese medicine, has been completed in 12 steps from a commercially available cinnamic acid. The key step is highly enantioselective carbon-hydrogen insertion from a diazoacetate using a chiral dirhodium(II) carboxamidate catalyst. An elimination process essential to the construction has been optimized to avoid intramolecular Friedel-Crafts alkylation.