Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.

Alazami syndrome is a rare disorder with an autosomal recessive inheritance caused by pathogenic biallelic variants in the gene. Clinically, it is mainly characterized by short stature, intellectual disability, and dysmorphic facial features. However, the phenotype is not yet well-defined because less than 50 cases have been described to date.

Antifibrotics and lung transplantation: A Spanish multicentre case-controlled study.

Background And Objective: Antifibrotic drugs are the standard treatments for patients with idiopathic pulmonary fibrosis (IPF). This study aims to assess the safety of antifibrotic treatment in IPF patients undergoing lung transplantation.

Methods: Patients with a diagnosis of IPF who received a lung transplant between January 2015 and June 2019 at four Spanish hospitals specialized in lung transplantation were retrospectively recruited.

Expert consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology on the determination of biomarkers in pancreatic and biliary tract cancer.

Pancreatic cancer and biliary tract cancer have a poor prognosis. In recent years, the development of new diagnostic techniques has enabled the identification of the main genetic alterations involved in the development of these tumours. Multiple studies have assessed the ability of certain biomarkers, such as BRCA in pancreatic cancer, IDH1 or FGFR2 in biliary tract cancer and microsatellite instability or NTRK fusions in an agnostic tumour fashion, to predict response to treatment.

Health-Related Quality of Life Outcomes With Two Different Starting Doses of Lenvatinib in Combination With Everolimus for Previously Treated Renal Cell Carcinoma.

Background: Preserving health-related quality of life (HRQOL) is an important goal during renal cell carcinoma treatment. We report HRQOL outcomes from a phase II trial (NCT03173560).

Patients And Methods: HRQOL data were collected during a multicenter, randomized, open-label phase II study comparing the safety and efficacy of 2 different starting doses of lenvatinib (18 mg vs.

Vitamin C and folate status in hereditary fructose intolerance.

Background: Hereditary fructose intolerance (HFI) is a rare inborn error of fructose metabolism caused by the deficiency of aldolase B. Since treatment consists of a fructose-, sucrose- and sorbitol-restrictive diet for life, patients are at risk of presenting vitamin deficiencies. Although there is no published data on the status of these vitamins in HFI patients, supplementation with vitamin C and folic acid is common.

A retrospective risk factor analysis of infection and wound dehiscence following guided bone regeneration in cystectomy defects of the jaws.

This study's objective is to determine if the combined use of bone substitutes and collagen membranes is related to worse postoperative outcomes after intra-osseous oral cystectomies. Additional risk factors mentioned in the existing literature were retrospectively analysed by reviewing the medical records and imaging tests of adult patients. Age, gender, smoking habit, cyst location, size, shape, histopathology, perilesional osteosclerosis and associated intracystic third molars were registered.

The lung ultrasound "Rule of 7" in the prognosis of COVID-19 patients: Results from a prospective multicentric study.

Purpose: There is growing evidence regarding the imaging findings of coronavirus disease 2019 (COVID-19) in lung ultrasound (LUS), however the use of a combined prognostic and triage tool has yet to be explored.To determine the impact of the LUS in the prediction of the mortality of patients with highly suspected or confirmed COVID-19.The secondary outcome was to calculate a score with LUS findings with other variables to predict hospital admission and emergency department (ED) discharge.

Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review.

Lethal congenital contracture syndrome 11 (LCCS11) is caused by homozygous or compound heterozygous variants in the gene on chromosome 15q21. encodes gliomedin, a protein required for the formation of the nodes of Ranvier and development of the human peripheral nervous system. We report a fetus with ultrasound alterations detected at 28 weeks of gestation.

Differences in clinical features and mortality in very old unvaccinated patients (≥ 80 years) hospitalized with COVID-19 during the first and successive waves from the multicenter SEMI-COVID-19 Registry (Spain).

Background: Old age is one of the most important risk factors for severe COVID-19. Few studies have analyzed changes in the clinical characteristics and prognosis of COVID-19 among older adults before the availability of vaccines. This work analyzes differences in clinical features and mortality in unvaccinated very old adults during the first and successive COVID-19 waves in Spain.

Reducing Early Antibiotic Use: A Quality Improvement Initiative in a Level III Neonatal Intensive Care Unit.

Unlabelled: Antibiotic burden is a critical issue in neonatal intensive care units (NICU) and antibiotic use is considered a quality indicator of neonatal care. Our aim was to optimize antibiotic use through a quality improvement (QI) initiative that included revision of departmental protocols and implementation of a surveillance system based on process indicators.

Methods: This is descriptive study of a cohort of all very low birth weight (VLBW) infants admitted to the NICU from 2014 to 2019.

Management of a chronically infected left ventricular assist device with heart transplantation: Two-step simplified approach.

Background: The surgical approach for the treatment of a left ventricular assist device with severe infection may be controversial.

Material & Methods: We present the case of a patient implanted with a HeartWare™ HVAD as a bridge to transplant and chronic infection of the device by Pseudomonas who underwent a conservative partial treatment of the driveline tunnel and subsequently a heart transplantation and device removal were done.

Conclusions: The two-step simplified approach allowed the patient to be transplanted in a short period of time, with the abdominal wall healed and almost two-thirds of the driveline subcutaneous tunnel sterilized.

Extended-spectrum β-lactamase-producing and carbapenem-resistant Enterobacterales bloodstream infection after solid organ transplantation: Recent trends in epidemiology and therapeutic approaches.

Background: Infections caused by multidrug-resistant gram-negative bacilli (MDR GNB), in particular extended-spectrum β-lactamase-producing (ESBL-E) and carbapenem-resistant Enterobacterales (CRE), pose a major threat in solid organ transplantation (SOT). Outcome prediction and therapy are challenging due to the scarcity of randomized clinical trials (RCTs) or well-designed observational studies focused on this population.

Methods: Narrative review with a focus on the contributions provided by the ongoing multinational INCREMENT-SOT consortium (ClinicalTrials identifier NCT02852902) in the fields of epidemiology and clinical management.

Rationale and design of ON-TRK: a novel prospective non-interventional study in patients with TRK fusion cancer treated with larotrectinib.

Background: Tropomyosin receptor kinase (TRK) fusion proteins resulting from neurotrophic tyrosine receptor kinase (NTRK) gene fusions are rare primary oncogenic drivers in a wide array of tumors. Larotrectinib is a first-in-class, highly selective, central nervous system-active TRK inhibitor approved by the US Food and Drug Administration (FDA), European Medicines Agency (EMA), and over 40 countries for the treatment of TRK fusion solid tumors in adult and pediatric patients. Due to the rarity of TRK fusion cancer, larotrectinib was granted accelerated approval based on a relatively small number of patients enrolled in three early phase trials.

BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients.

Late-onset Pompe disease (LOPD) is a rare genetic disorder produced by mutations in the GAA gene and is characterized by progressive muscle weakness. LOPD muscle biopsies show accumulation of glycogen along with the autophagic vacuoles associated with atrophic muscle fibers. The expression of molecules related to muscle fiber atrophy in muscle biopsies of LOPD patients was studied using immunofluorescence and real-time PCR.

Can physiological stimulation prior to ileostomy closure reduce postoperative ileus? A prospective multicenter pilot study.

Background: The aim of this study was to assess the impact of ileostomy closure following preoperative physiological stimulation (PPS) on postoperative ileus (POI) in patients with loop ileostomy after low anterior resection for rectal cancer.

Methods: Patients who underwent ileostomy closure between January 2017 and February 2020 in two tertiary referral centers were prospectively included. PPS stimulation was compared to standard treatment.

Tumor Size and Oncological Outcomes in Patients with Early Cervical Cancer Treated by Fertility Preservation Surgery: A Multicenter Retrospective Cohort Study.

Background: The aim of this study was to analyze the impact of tumor size > 2 cm on oncological outcomes of fertility-sparing surgery (FSS) in early cervical cancer in a Spanish cohort. Methods: A multicenter, retrospective cohort study of early cervical cancer (stage IA1 with lymphovascular space invasion -IB1 (FIGO 2009)) patients with gestational desire who underwent FSS at 12 tertiary departments of gynecology oncology between 01/2005 and 01/2019 throughout Spain. Results: A total of 111 patients were included, 82 (73.

Re-interventions following appendectomy in children: a multicenter study.

Introduction: Acute appendicitis is the most frequent cause of acute abdomen in children. The objective of this study was to analyze the causes, approach, and results of complications requiring surgery following appendectomy.

Material And Methods: A retrospective study of the appendectomies conducted in three third-level institutions from 2015 to 2019 was carried out.

A comparative study of the expression of cyclin D1, COX-2, and KI-67 in odontogenic keratocyst vs. ameloblastoma vs. orthokeratinized odontogenic cyst.

Background: Odontogenic keratocysts (OKCs) and orthokeratinized odontogenic Cysts (OOCs) are distinct clinicopathological entities. OKC appears to behave in a way more similar to that of a neoplasm, such as ameloblastoma (AB). The aim of this study is to compare the influence of Ki-67, Cyclin D1 and COX-2 in the diagnosis and pathogenesis of OKC, OOC and AB.

Effect of Combination Antibiotic Empirical Therapy on Mortality in Neutropenic Cancer Patients with Pneumonia.

To assess the effect of combination antibiotic empirical therapy on 30-day case-fatality rate in neutropenic cancer patients with Pseudomonas aeruginosa (PA) bacteremic pneumonia. This was a multinational, retrospective cohort study of neutropenic onco-hematological patients with PA bloodstream infection (BSI) (2006−2018). The effect of appropriate empirical combination therapy, appropriate monotherapy and inappropriate empirical antibiotic therapy [IEAT] on 30-day case-fatality was assessed only in patients with PA bacteremic pneumonia.