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. The parameters of the American College of Cardiology and the European Society of Cardiology were used to assess the risk of SCD. RESULTS: A total of 11 individuals were assessed with a mean age of 55.3 years, mean follow-up of 41.2 months, most of whom were symptomatic at diagnosis (72.7%). The most frequent symptom was dyspnea (27.3%). A family history of SCD was described in 45.5% of cases. Due to a high risk of SCD, four patients received ICDs. One patient presented sudden cardiac death after having refused the ICD. CONCLUSIONS: Symptoms and alterations in the imaging exams are significant factors in the clinical and prognostic assessment of patients with AHCM.

[GNAO1: a new gene to consider on early-onset childhood dystonia]. / GNAO1: un nuevo gen a considerar en la distonia temprana de la infancia.

TITLE: GNAO1: un nuevo gen a considerar en la distonia temprana de la infancia.

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. The authors report the case of a 7-week infant, born prematurely and with Staphylococcus aureus neonatal sepsis, who presented to the emergency room with a paretic right upper limb. Osteoarticular infection complicated with brachial plexus neuropathy was considered and MRI and electromyography the confirmed diagnosis. There was a good outcome after antibiotic treatment and functional rehabilitation.

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%). Mean age at seizure onset was 8.5 months; 8 patients (62%) presented with FS, 4 (33%) with cluster of focal seizures, and 1 with de novo status epilepticus (SE). Subsequent seizure types included afebrile tonic-clonic, febrile, and afebrile SE, absences, myoclonic, and focal seizures. Seven patients (54%) had a clinical diagnosis consistent with Dravet syndrome (DS); 6 (46%) had focal epilepsy. In most patients, seizures were particularly frequent at onset, manifesting in clusters and becoming less frequent with age. Mental retardation was present in 11 patients, ranging from mild (7; 64%) to moderate (1; 9%) to severe (3; 27%). Five patients (38%) had autistic features in association to mental retardation. Mutations were missense (6), truncating (2), frameshift (3), and splicing (2). Eleven were new mutations. Mutations were inherited in 3 probands (25%): 2 from apparently unaffected fathers and 1 from a mother who had had generalized epilepsy. CONCLUSIONS: PCDH19 is emerging as a major gene for infantile-onset familial or sporadic epilepsy in female patients with or without mental retardation. In our cohort, epileptic encephalopathy with DS-like features and focal epilepsy of variable severity were the associated phenotypes and were equally represented.

Changes in the clonal nature and antibiotic resistance profiles of methicillin-resistant Staphylococcus aureus isolates associated with spread of the EMRSA-15 clone in a tertiary care Portuguese hospital.

Two hundred eighty methicillin-resistant Staphylococcus aureus (MRSA) clinical isolates recovered from a tertiary care hospital in Oporto, Portugal, between 2003 and 2005 were studied by a combination of molecular typing techniques in order to investigate the genetic backgrounds associated with the changes in the resistance phenotypes observed since 2001 and compare them to those previously found in the hospital. All MRSA isolates were grouped into resistance profiles for a panel of seven antibiotics and characterized by pulsed-field gel electrophoresis (PFGE) and SCCmec (staphylococcal cassette chromosome mec) typing. Representative isolates of PFGE types were further studied by spa typing and multilocus sequence typing. Our findings clearly document that the increasing isolation of nonmultiresistant MRSA strains was associated with the decline (from 69% in 1996 to 2000 to 12% in 2003 to 2005) and massive replacement of the multiresistant Brazilian clone (ST239-IIIA) by the epidemic EMRSA-15 clone (ST22-IV), in which resistance to antibiotics other than beta-lactams is very rare, as the major clone (80% of isolates). The Iberian clone (ST247-IA), a major clone in 1992 to 1993, was represented in the present study by just one isolate. Two other pandemic MRSA clones were detected, as sporadic isolates, for the first time in our hospital: the New York/Japan (ST5-II) and the EMRSA-16 (ST36-II) clones. Furthermore, the pattern of susceptibility of MRSA isolates both to gentamicin and to trimethoprim-sulfamethoxazole was shown to be an excellent phenotypic marker for the discrimination of the EMRSA-15 clone from other nonmultiresistant MRSA clones present in our hospital.

Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations.

BACKGROUND: Hand stereotypies are considered a hallmark of Rett syndrome (RTT) and are usually described as symmetric movements at the midline. However, related pathologies may show the same type of involuntary movement. Furthermore, patients with RTT also have stereotypies with other localizations that are less well characterized. METHODS: We analyzed stereotypies in 83 patients with RTT, 53 with and 30 without a mutation detected in the MECP2 gene. Patients were observed and videotaped always by the same pediatric neurologist. Stereotypies were classified, and data were submitted to statistical analysis for comparison of mutation-positive and -negative patients and analysis of their evolution with the disease. RESULTS: All the patients showed hand stereotypies that coincided with or preceded the loss of purposeful hand movements in 62% of the patients with MECP2 mutations. The hair pulling stereotypy was more frequent in the group with detected mutations, whereas hand washing was not. Hand gaze was absent in all RTT patients with MECP2 mutations. Patients with MECP2 mutations also had more varied stereotypies, and the number of stereotypies displayed by each patient decreased significantly with age in this group. In all patients, stereotypies other than manual tended to disappear with the evolution of the disease. CONCLUSIONS: Although symmetric midline hand stereotypies were not specific to patients with an MECP2 mutation, some of the other stereotypies seemed to be more characteristic of this group. In patients younger than 10 years and meeting the necessary diagnostic criteria of Rett syndrome, the association of hand stereotypies without hand gaze, bruxism, and two or more of the other stereotypies seemed to be highly indicative of the presence of an MECP2 mutation.

Risk factors for latex sensitization in children with spina bifida.

BACKGROUND: Children with spina bifida represent the major risk group for latex sensitization. PURPOSE: To determine the prevalence of latex sensitization in these children and to identify risk factors. MATERIAL AND METHODS: We studied 57 patients with spina bifida. The mean age was 5.6 years and the male/female ratio was 0.8/1. In all patients a questionnaire, skin prick test (SPT) with latex (UCB-Stallergènes, Lofarma and ALK-Abelló), common aeroallergens and fruits (UCB-Stallergènes) and serum determination of total IgE (AlaSTAT) were performed. RESULTS: The prevalence of latex sensitization was 30 %; only two sensitized children (12 %) had symptoms after exposure. Risk factors for latex sensitization were age >/= 5 years (p = 0.008; OR = 6.0; 95 % CI = 1.7-22.1), having at least four previous surgical interventions (p < 0.0001; OR = 18.5; 95 % CI = 3.6-94.8), having undergone surgery in the first 3 months of life (p = 0.008; OR = 5.4; 95 % CI = 0.7-29.2) and total serum IgE >/= 44 IU/ml (p = 0.03; OR = 3.8; 95 %CI = 1.1-13.1). Multiple logistic regression analysis showed that only a history of four or more surgical interventions (p < 0.0001; OR = 26.3; 95 %CI = 2.9-234.2) and total serum IgE >/= 44 IU/ml (p = 0.02; OR = 8.6; 95 % CI = 1.4-53.4) were independently associated with latex sensitization. Sex, family and personal allergic history, hydrocephalus with ventriculoperitoneal shunt, cystourethrograms, intermittent bladder catheterization and atopy were not related to latex sensitization. CONCLUSIONS: In children with spina bifida, significant and independent risk factors identified for latex sensitization were multiple interventions and higher levels of total serum IgE. A prospective study will clarify the clinical evolution of assymptomatic children sensitized to latex.

Risk factors for latex sensitization in children with spina bifida

Background: Children with spina bifida represent the major risk group for latex sensitization. Purpose: To determine the prevalence of latex sensitization in these children and to identify risk factors. Material and methods: We studied 57 patients with spina bifida. The mean age was 5.6 years and the male/female ratio was 0.8/1. In all patients a questionnaire, skin prick test (SPT) with latex (UCB-Stallergènes, Lofarma and ALK-Abelló), common aeroallergens and fruits (UCB-Stallergènes) and serum determination of total IgE (AlaSTAT) were performed. Results: The prevalence of latex sensitization was 30 %; only two sensitized children (12 %) had symptoms after exposure. Risk factors for latex sensitization were age ≥ 5 years (p = 0.008; OR = 6.0; 95 % CI = 1.7-22.1), having at least four previous surgical interventions (p < 0.0001; OR = 18.5; 95 % CI = 3.6-94.8), having undergone surgery in the first 3 months of life (p = 0.008; OR = 5.4; 95 % CI = 0.7-29.2) and total serum IgE ≥ 44 IU/ml (p = 0.03; OR = 3.8; 95 %CI = 1.1-13.1). Multiple logistic regression analysis showed that only a history of four or more surgical interventions (p < 0.0001; OR = 26.3; 95 %CI = 2.9-234.2) and total serum IgE ≥ 44 IU/ml (p = 0.02; OR = 8.6; 95 % CI = 1.4-53.4) were independently associated with latex sensitization. Sex, family and personal allergic history, hydrocephalus with ventriculoperitoneal shunt, cystourethrograms, intermittent bladder catheterization and atopy were not related to latex sensitization. Conclusions: In children with spina bifida, significant and independent risk factors identified for latex sensitization were multiple interventions and higher levels of total serum IgE. A prospective study will clarify the clinical evolution of assymptomatic children sensitized to latex (AU)

Introducción: Los niños con espina bífida son el principal grupo de riesgo para sensibilización al latex. Objetivo: Se pretendió con este estudio determinar la prevalencia e identificar factores de riesgo para sensibilización al latex en niños con espina bífida. Método: Se estudiaron 57 niños con espina bífida, con una edad media de 5,6 años y una relación sexo masculino/femenino de 0,8/1. A todos los niños le realizamos cuestionario, pruebas cutáneas en prick incluyendo latex (extractos UCB-Stallergènes, Lofarma y ALK-Abelló), aeroalergenos comunes y frutos (UCB-Stallergènes) y determinación sérica de IgE total (AlaSTAT). Resultados: La prevalencia de sensibilización al latex fue del 30 por ciento; sólo dos niños sensibilizados (12 por ciento) presentaban sintomatología relacionada con la exposición. Fueron identificados como factores de riesgo para sensibilización al latex: edad 5 años (p = 0,008; OR = 6,0; IC95 por ciento = 1,7-22,1); existencia de 4 o más intervenciones quirúrgicas (p < 0,0001; OR = 18,5; IC95 por ciento = 3,6-94,8); cirugías en los primeros tres meses de vida (p = 0,008; OR = 5,4; IC95 por ciento = 0,7-29,2); niveles séricos de IgE total 44 UI/ml (p = 0,03; OR = 3,8; IC95 por ciento = 1,1-13,1). Mediante la realización de un análisis de regresión logística múltiple se identificaron como factores de riesgo independientes, historia de 4 o más intervenciones quirúrgicas (p < 0,0001; OR = 26,3; IC95 por ciento = 2,9-234,2) y niveles séricos de IgE total 44 UI/ml (p = 0,02; OR = 8,6; IC95 por ciento = 1,4-53,). No se identificaron como factores de riesgo, el sexo, antecedentes familiares y personales de enfermedad alérgica, hidrocefalia con derivación ventrículoperitoneal, cistografias, cateterismo vesical intermitente ni atopia. Conclusiones: Identificamos como factores de riesgo significativo e independientes para sensibilización al latex en niños con espina bífida la existencia de un número elevado de intervenciones quirúrgicas y niveles séricos más elevados de IgE total. Un estudio prospectivo esclarecerá la evolución clínica de los niños sensibilizados asintomáticos (AU)

Involuntary rhythmic leg movements time-locked with the respiratory cycle.

Involuntary rhythmic leg movements in childhood is an uncommon condition, the generators of which remain unknown. We report on a male 3 years of age with distinct features providing important clues concerning the location of one of these generators. At the age of 7 months, the previously healthy young male started with low frequency, rhythmic, and continuous (both during wakefulness and sleep) flexion/extension movements of the lower limbs. Movements interfered significantly with gait acquisition, and, despite normal cognitive development, he was able to walk only at age 2 years, 4 months. The neurologic examination revealed the absence of automatic stepping in the neonatal period, but was otherwise normal. A polygraphic electroencephalogram/electromyogram (EEG/EMG) recording, at the age of 2 years, 9 months, revealed rhythmic and synchronous legs with EMG activity at 0.5 Hz. A more complete polygraphic recording at the age of 3 years, 10 months, showed a lower frequency (0.35 Hz) for the movements, which were time-locked with the respiratory cycle. Magnetic resonance imaging (MRI) of the brain revealed an increased T(2) signal in the upper medulla-lower pons regions. The generator of the rhythmic legs movements is postulated to be the respiratory center, connecting with the reticulospinal projecting neurons through an aberrant pathway.

[Acute infantile bilateral striatal necrosis]. / Necrose estriatal bilateral aguda infantil.

This paper describes the clinical case of a nine year old child clinical features of tetraparesis and acute encephalopathy after an infectious disease. The brain magnetic resonance imaging was compatible with a symmetrical bilateral necrosis of the brain nucleus which, associated with the clinical evolution, led to the diagnosis of acute bilateral infant striatal necrosis.

[Multicenter study of isolated micro-organisms resistant to antimicrobials in 10 Portuguese hospitals in 1994]. / Estudo multicêntrico de microrganismos isolados e de resistência aos antimicrobianos em dez hospitais Portugueses em 1994.

In 1994, Microbiology Laboratories of ten Portuguese hospitals analysed isolated microorganisms found in blood and urine samples and studied antimicrobial susceptibilities of the most frequent bacterial pathogens. From 63780 blood samples, the most frequent were Staphylococcus spp. and from 69189 urine samples significant numbers of Escherichia coli, Enterococcus spp., Pseudomonas aeruginosa and Candida spp. were isolated. Escherichia coli strains (c.7000) revealed a low percentage of resistance to antibiotics with the exceptions of ampicillin (48%) and co-trimoxazol (25%). Klebsiella pneumoniae isolates (c.2000) revealed important resistance to ampicillin (98%), cephalotin (31%), co-trimoxazol (38%) and gentamicin (28%), while values for 3rd generation cephalosporins varied among hospitals, with several strains showing phenotype of extended-spectrum beta-lactamase. A great variation in resistance values of P. aeruginosa (c.4000) was found in relation to the antibiotics as well as to the hospitals. Resistance to methicillin in S. aureus (c.6000) was high, reaching an average of 47%, and it was even higher with S. epidermidis (c.3000) and S. haemolyticus (c.650). Only vancomycin was always active against these strains. In E. faecalis (c.2500) resistance was of 2% to ampicillin, 35% to gentamicin, 45% to streptomycin and 1% to vancomycin. E. faecium isolates (c.300) showed the most worrying results with 70% resistance to ampicillin, 42% to gentamicin, 59% to streptomycin and 9% (30 strains isolated in 5 hospitals) to vancomycin. Vancomycin resistant strains were also resistant to all other antibiotics.