Impact of different COVID-19 waves on kidney replacement therapy epidemiology and mortality: REMER 2020.

Background: Kidney replacement therapy (KRT) confers the highest risk of death from coronavirus disease 2019 (COVID-19). However, most data refer to the early pandemic waves. Whole-year analysis compared with prior secular trends are scarce.

MixInYeast: A Multicenter Study on Mixed Yeast Infections.

Invasive candidiasis remains one of the most prevalent systemic mycoses, and several studies have documented the presence of mixed yeast (MY) infections. Here, we describe the epidemiology, clinical, and microbiological characteristics of MY infections causing invasive candidiasis in a multicenter prospective study. Thirty-four centers from 14 countries participated.

[Are inhaled corticosteroids effective in asthma exacerbations? Evidentia praxis].

A clinical scenario is presented, from which a structured clinical question arises: In asthmatic children or adolescents with exacerbation symptoms, does the use of inhaled corticosteroids (newly instituted or base dose increased) reduce the risk of exacerbations that require systemic steroids and/or hospitalization? To answer it, we carried out a bibliographic search, with selection, evaluation and graduation of the evidence, following GRADE criteria. We did not find sufficient evidence to consider intermittent inhaled steroids as an alternative to maintenance inhaled steroids to avoid exacerbations that require the use of systemic steroids. The use of a combination of inhaled steroids with formoterol, as a rescue treatment at the onset of symptoms, is only effective when used by patients with this maintenance treatment, compared to those who only have inhaled steroids and rescue with beta2-agonists of short action; when patients already take maintenance combined therapy, combined rescue does not reduce the risk.

Current perspectives in Bietti crystalline dystrophy.

Bietti crystalline dystrophy (BCD) is a rare-inherited disease caused by mutations in the gene and characterized by the presence of multiple shimmering yellow-white deposits in the posterior pole of the retina in association with atrophy of the retinal pigment epithelium (RPE) and chorioretinal atrophy. The additional presence of glittering dots located at the corneal limbus is also a frequent finding. The CYP4V2 protein belongs to the cytochrome P450 subfamily 4 and is mainly expressed in the retina and the RPE and less expressed in the cornea.

Association between general and central adiposity and development of hypertension in early childhood.

Objectives: To evaluate the association of general and abdominal obesity with high blood pressure in young children.

Methods: A longitudinal study including 1796 participants from the Madrid region (Spain) with baseline at age 4 years and a follow-up 2 years later. Blood pressure, body mass index and waist circumference were measured during a physical examination.

A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4.

Background: Mutations in the FGD4 gene cause an autosomal recessive demyelinating peripheral neuropathy referred to as CMT4H, characterized by its onset in infancy or early-childhood and its slow progression.

Methods: The clinical and genetic status of two patients with CMT4H was studied, performing genetic testing with a panel of genes and analysing FGD4 mRNA expression by quantitative PCR.

Results: Two novel FGD4 variants (c.

Impact of Swept Source optical coherence tomography in patients with photoreceptor dystrophies.

The use of optical coherence tomography to diagnose conditions that predominantly affect the photoreceptor layer is postulated as a technique that allows to evaluate the relationship between retinal changes and loss of visual acuity. Two clinical cases are presented on patients with a bilateral decrease of their visual acuity and alteration in chromatic perception. Optical coherence tomography revealed subfoveal focal hypo-reflective defects on the hyper-reflective band (known as the ellipsoid zone).

Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying mutations.

Background: Mutations in the metalloendopeptidase () gene were initially identified as a cause of autosomal recessive Charcot-Marie-Tooth disease type 2 (CMT2). Subsequently, variants in were linked to other late-onset autosomal dominant polyneuropathies. Thus, our goal was to define the phenotype and mode of inheritance of patients carrying changes in .

Unsolicited consultation by infectious diseases specialist improves outcomes in patients with bloodstream infection: A prospective cohort study.

Introduction: The objective of this study was to evaluate the impact of an intervention based on unsolicited consultations by an infectious diseases specialist (IDS) on the adequacy of antimicrobial treatment and mortality in patients with BSI.

Methods: A prospective cohort study was performed in a 410-bed hospital. An intervention based on unsolicited consultation by an IDS for patients with BSI was performed only on days when an IDS was available.

Identification of novel CYP4V2 genotypes associated with Bietti crystalline dystrophy and atypical anterior segment phenotypes in Spanish patients.

Purpose: To identify the spectrum of disease-causing CYP4V2 variants in Spanish patients with clinically diagnosed Bietti crystalline dystrophy (BCD) over an 8-year period and to analyse the phenotype-genotype correlation of the identified variants.

Methods: Four unrelated Spanish probands with a clinical diagnosis of BCD were recruited. Ophthalmological examination included visual acuity (VA), slit lamp examination, in vivo corneal confocal microscopy, funduscopy and fluoresceinic angiography.

Leukaemic infiltration and cytomegalovirus retinitis in a patient with acute T-cell lymphoblastic leukaemia in complete remission.

Clinical Case: A 43-year-old woman in remission from T- cell acute lymphoblastic leukaemia was referred to our hospital with suspected leukaemic retinitis. The funduscopic examination of her left eye revealed multifocal yellow-white peripheral retinitis and retinal haemorrhage. The patient was treated for cytomegalovirus retinitis after an extended haematological investigation showed no abnormalities.

Nevoid iris melanoma, case report.

Case Report: The case is presented of a patient with diagnosis of iris nevus in the left eye in youth with a poor follow-up, who referred a decreased visual acuity in that eye. A hyphaema and a 3×4×3mm nodule with irregular pigmentation was observed. Excision of the tumour and histological analysis confirmed the suspicion of iris melanoma in stage Ia.

[Adnexal torsion caused by Fallopian tube cancer].

Fallopian tube cancer is the less frequent gynecological cancer. It occurs typically between 40 and 65 years old. Diagnosis is usually achieved earlier than in ovarian cancer cases, due to early symptoms (typically abdominal pain, hydro-hematorrhea and adnexal mass).

[Mammary ductal ectasia child. Diagnostic and therapeutic approach].

Mammary duct ectasia in childhood is a rare disease. It appears typically as a periareolar mammary mass and/or nipple discharge. Even though in the adult age is an acquired disease, its occurrence in children suggests it may constitute a development mammary gland anomaly.

Exudative retinal detachment and primary pulmonary hypertension.

Case Report: A 60 year old woman who was seen in the emergency department due to sudden loss of vision in left eye. The fundoscopy study showed exudative retinal detachment. The patient referred to dyspnea and peripheral edema of one year duration during the anamnesis.

Genotype-phenotype analysis of Bietti crystalline dystrophy in a family with the CYP4V2 Ile111Thr mutation.

Purpose: The purposes of this study were to evaluate the genotypic and phenotypic correlations of Bietti crystalline dystrophy and to investigate the utility of in vivo corneal confocal microscopy in diagnosing this disorder.

Methods: A Spanish woman (proband) with a clinical diagnosis of Bietti crystalline dystrophy and 7 members of her family were recruited prospectively for complete clinical ophthalmic examination and genetic study. The medical records of an additional family member were reviewed retrospectively.

[Diabetic retinopathy screening and teleophthalmology].

Objective: To determine the prevalence of diabetic retinopathy (DR) and evaluate our experience in DR screening in a study carried out between the Ophthalmology Department of the University General Hospital of Alicante and Department 19 Primary Care of Alicante by using a non-retinal mydriatic camera and telemedicine.

Material And Methods: A descriptive, cross-sectional study was conducted on 2,435 diabetic patients from 1 February 2006 to 1 February 2009. Three 45° retinographies of both eyes of each patient were obtained and sent to the Department of Ophthalmology via the hospital intranet.

[Triamcinolone acetonide without solvents].

Objective: The purification of commercially prepared triamcinolone acetonide is important in order to avoid the potential toxic side-effects of the solvent benzyl alcohol. We present a new technique for preparation of pure triamcinolone acetonide by dissolving the powder in sterile distilled water with no additional solvents. As the triamcinolone powder is relatively insoluble in water, we describe the sterile method used for the preparation and control of this suspension.

Ultrasonographic and pathological endometrial findings in asymptomatic postmenopausal women taking antihypertensive drugs.

Objectives: To assess whether abnormal sonographic endometrial findings are more frequent in asymptomatic postmenopausal women receiving anti-hypertensive drugs than in normotensive women.

Methods: A prospective study on 187 postmenopausal asymptomatic normotensive (group A) and 182 postmenopausal asymptomatic women receiving anti-hypertensive drugs (group B) was performed. All patients were evaluated initially by transvaginal ultrasound and endometrial sampling (Pipelle device).

[Primary antiphospholipid syndrome diagnosed in hemodialysis].

We present the next case: male, 30 years old, primary APLA syndrome diagnosed after 6 months of treatment with recurrent haemodialysis. The patient, who had a history of vascular thrombosis, presented with thrombotic problems in his arteriovenous fistula made as vascular access for hemodialysis. The discovery of celic trunk and superior mesenteric artery occlusions led us to the clinical diagnosis, which was confirmed by presence of a pathological type of lupus anticoagulant and anticardiolipin antibodies in plasma.