ICD indication in hypertrophic cardiomyopathy: which algorithm to use?

Objective: This study aimed to evaluate the agreement in the indication of implantable cardioverter-defibrillators in patients with Hypertrophic cardiomyopathy, as per the 2014 European Society of Cardiology and 2020 American Heart Association recommendations, and evaluate fragmented QRS as a predictor of cardiovascular outcome.

Methods: Retrospective cohort with 81 patients was evaluated between 2019 and 2021. Patients with hypertrophic cardiomyopathy ≥16 years old were included.

Apical hypertrophic cardiomyopathy: A case series at a Brazilian referral center with a maximal follow-up of 15 years.

Background: Apical hypertrophic cardiomyopathy (AHCM) is a rare cardiomyopathy, in which hypertrophy occurs predominantly in the ventricular apex, and in some cases with a high risk of sudden cardiac death.

Objective: The aim of this paper is to present a case series of patients with AHCM and describe their main clinical, echocardiographic and electrocardiographic characteristics, the recommendation for an implantable cardioverter-defibrillator (ICD) and the frequency of sudden cardiac death (SCD).

Methods: A retrospective case series was conducted at the referral center of a federal teaching hospital, between the years 2005 to 2020, involving patients with an echocardiographic diagnosis of AHCM.

Cardiac Malignant Peripheral Nerve Sheath Tumor Accessed By F-FDG PET/CT.

This is a case report of a patient presenting an extremely rare cardiac malignancy: malignant peripheral nerve sheath tumour. The F-fluorodeoxyglucosis positron emission tomography associated to computed tomography (F-FDG PET/CT) accesses the tumour anatomy and metabolic activity, thereby making it possible to characterize a malignant neoplasm noninvasively. The diagnostic approach with F-FDG PET/CT spared the heart from a likely futile invasive procedure when detecting a distant metastasis and changed the biopsy site and therapeutic planning.

Effect of spironolactone on the progression of coronary calcification in peritoneal dialysis patients: a pilot study.

Introduction: There is evidence that aldosterone plays a role in the pathogenesis of vascular calcification. The aim of this study was to evaluate the effect of spironolactone, a mineralocorticoid receptor antagonist, on the progression of coronary calcification (CC) in peritoneal dialysis patients and to identify the factors involved in this progression.

Methods: Thirty-three patients with a coronary calcium score (CCS) ≥ 30, detected through multi-detector computed tomography (MDCT) and expressed in Agatston units, were randomly assigned to a group receiving 25mg spironolactone per day for 12 months (spironolactone group) and a control group not receiving this drug.

GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease?

Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the alpha galactosidase A gene (GLA) that lead to the enzymatic deficiency of alpha galactosidase (α-Gal A), resulting in the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), causing multiple organ dysfunctions.

Objective: To perform GLA gene screening in a group of patients with echocardiographic diagnosis of hypertrophic cardiomyopathy (HCM).

Methods: a cross-sectional study was conducted with HCM patients from a university hospital.

Anatomical and physiological basis of continuous spike-wave of sleep syndrome after early thalamic lesions.

Objective: Early neonatal thalamic lesions account for about 14% of continuous spike-wave of sleep (CSWS) syndrome, representing the most common etiology in this epileptic encephalopathy in children, and promise useful insights into the pathophysiology of the disease.

Methods: We describe nine patients with unilateral neonatal thalamic lesions which progressed to CSWS. Longitudinal whole-night and high-density electroencephalograms (EEGs) were performed, as well as detailed imaging and clinical evaluation.

Cardiac Magnetic Resonance-Verified Myocardial Fibrosis in Chagas Disease: Clinical Correlates and Risk Stratification.

Background:: Chagas disease (CD) is an important cause of heart failure and mortality, mainly in Latin America. This study evaluated the morphological and functional characteristics of the heart as well the extent of myocardial fibrosis (MF) in patients with CD by cardiac magnetic resonance (CMR). The prognostic value of MF evaluated by myocardial-delayed enhancement (MDE) was compared with that via Rassi score.

Identification of novel genetic causes of Rett syndrome-like phenotypes.

Background: The aim of this work was to identify new genetic causes of Rett-like phenotypes using array comparative genomic hybridisation and a whole exome sequencing approach.

Methods And Results: We studied a cohort of 19 Portuguese patients (16 girls, 3 boys) with a clinical presentation significantly overlapping Rett syndrome (RTT). Genetic analysis included filtering of the single nucleotide variants and indels with preference for de novo, homozygous/compound heterozygous, or maternally inherited X linked variants.

Who needs surgery for pediatric myelomeningocele? A retrospective study and literature review.

Introduction: Children with myelomeningocele (MMC) are usually subjected to multiple surgeries. However, the number and type of surgeries are not the same in every patient with MMC over time. This report summarizes the surgical interventions in a cohort of several ages.

Atypical phenotype in two patients with LAMA2 mutations.

Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the α2-chain of laminin. We report two patients with partial laminin-α2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. Patients underwent clinical, histopathological, imaging and genetic studies.

Osteoporosis in paediatric patients with spina bifida.

Unlabelled: The prevalence and morbidity associated with osteoporosis and fractures in patients with spina bifida (SB) highlight the importance of osteoporosis prevention and treatment in early childhood; however, the issue has received little attention. The method for the selection of appropriate patients for drug treatment has not been clarified.

Objective: To review the literature concerning fracture risks and low bone density in paediatric patients with SB.

Epilepsy and cerebral palsy: characteristics and trends in children born in 1976-1998.

Background: Although epilepsy is common in children with cerebral palsy (CP), no data exists on prevalence rates of CP and epilepsy.

Aims: To describe epilepsy in children with CP, and to examine the association between epilepsy and neonatal characteristics, associated impairments and CP subtypes.

Methods: Data on 9654 children with CP born between 1976 and 1998 and registered in 17 European registers belonging to the SCPE network (Surveillance of Cerebral Palsy in Europe) were analyzed.

Septic arthritis presenting as brachial plexus neurophaty.

Bone and joint infections are rare in the neonatal period. They often present with pseudo paralysis of the affected limb due to pain and discomfort caused by movement. The existence of a concomitant neuropathy is a rare and insufficiently understood phenomenon with few cases described.

Protocadherin 19 mutations in girls with infantile-onset epilepsy.

Objective: To explore the causative role of PCDH19 gene (Xq22) in female patients with epilepsy.

Methods: We studied a cohort of 117 female patients with febrile seizures (FS) and a wide spectrum of epilepsy phenotypes including focal and generalized forms with either sporadic or familial distribution.

Results: PCDH19 screening showed point mutations in 13 probands (11%).

N170 asymmetry as an index of inferior occipital dysfunction in patients with symptomatic occipital lobe epilepsy.

Objective: Localizing epileptic foci in posterior brain epilepsy remains a difficult exercise in surgery for epilepsy evaluation. Neither clinical manifestations, neurological, EEG nor neuropsychological evaluations provide strong information about the area of onset, and fast spread of paroxysms often produces mixed features of occipital, temporal and parietal symptoms. We investigated the usefulness of the N170 event-related potential to map epileptic activity in these patients.

[Evaluation of the knowledge and attitudes to the standard precautions for infection control of the healthcare workers of a Portuguese central and university hospital].

Introduction: The Standard Precautions are measures to prevent healthcare workers' exposure to infectious agents, like HIV, HBV and HCV, through the routine use of techniques and appropriate barriers that reduce the exposure probability. These measures intend to prevent contact with blood and other fluids, potentially infected, contributing to the reduction of nosocomial infection.

Objectives: To evaluate the knowledge, attitudes and adherence to the standard precautions for infection control among the healthcare workers of the Hospital Geral de Santo António, through the application of a questionnaire.

Fractures in children and adolescents with spina bifida: the experience of a Portuguese tertiary-care hospital.

Aim: The morbidity associated with osteoporosis and fractures in children and adolescents with spina bifida highlights the importance of osteoporosis prevention and treatment in these patients. The aim of this study was to examine the occurrence and pattern of bone fractures in paediatric patients with spina bifida.

Method: We reviewed the data of all paediatric patients with spina bifida who were treated in our centre between 1999 and 2008.

Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes.

Background: The diagnosis of Rett syndrome (RTT) is based on a set of clinical criteria, irrespective of mutation status. The aims of this study were (1) to define the clinical differences existing between patients with Rett syndrome with (Group I) and without a MECP2 mutation (Group II), and (2) to characterize the phenotypes associated with the more common MECP2 mutations.

Patients And Methods: We analyzed 87 patients fulfilling the clinical criteria for RTT.

Epidemiology of methicillin-resistant Staphylococcus aureus (MRSA) nasal colonization among patients and healthcare workers in a Portuguese hospital: a pre-intervention study toward the control of MRSA.

This two-year study investigated the epidemiology of nasal colonization with methicillin-resistant Staphylococcus aureus (MRSA) among patients and healthcare workers (HCWs) in two wards with a high frequency of MRSA isolation, at Hospital Geral de Santo António (HGSA), Portugal. Three point-prevalence surveys per year were carried out. A case-control approach was used to identify potential risk factors associated with MRSA carriage among patients.

Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients.

Rett syndrome is a genetic neurodevelopmental disorder that affects mainly girls, but mutations in the causative MECP2 gene have also been identified in boys with classic Rett syndrome and Rett syndrome-like phenotypes. We have studied a group of 28 boys with a neurodevelopmental disorder, 13 of which with a Rett syndrome-like phenotype; the patients had diverse clinical presentations that included perturbations of the autistic spectrum, microcephaly, mental retardation, manual stereotypies, and epilepsy. We analyzed the complete coding region of the MECP2 gene, including the detection of large rearrangements, and we did not detect any pathogenic mutations in the MECP2 gene in these patients, in whom the genetic basis of disease remained unidentified.