Induction of nonsustained atrial flutter by programmed atrial stimulation in children: Incidence,mechanisms, and clinical implications

Nonsustained atrial flutter was induced by programmed atrial extrastimulation in 6 (4%) of 137 children with preoperative congenital heart defects, who underwent electrophysiologic evaluation as part of cardiac catheterization. None of these patients had ECG or clinical evidence of arrhythmias. Atrial reentry was induced by programmed atrial extrastimulation in these six patients at coupling intervals slightly longer than the coupling interval at which flutter was induced. The flutter cycle length was similar to the atrial refractory periods. The duration ranged between 0.4 second and 60 seconds. The PA interval and the duration of the P wave were normal in all of the patients. Five of the six had normal PR intervals. It is concluded that nonsustained atrial flutter may be induced by programmed atrial extrastimulation in dysrhythmia-free children. The cycle length is determined by atrial refractoriness and, contrary to adults with clinical atrial flutter, prolonged PA and P wave duration are not predisposing factors.     

Cardiac size and function in children with sickle cell anemia

Cardiac size and function were studied echocardiographically in 124 children with sickle cell anemia. A group of 78 healthy black children served as control subjects. Sickle cell patients exhibited progressive chamber enlargement and progressively increasing left ventricular mass. Although contractility indices were normal, when the opposing influences of volume overload due to anemia and ventricular dysfunction were separated, abnormalities of systolic time intervals were identified. Left ventricular systolic time interval ratio and left ventricular preejection period were higher in the sickle cell group and became increasingly abnormal with growth, suggesting that left ventricular function deteriorated with time.     

Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report

BackgroundSpinocerebellar ataxia type 5 (SCA5), a dominant spinocerebellar ataxia is caused by spectrin beta nonerythrocytic 2 gene (SPTBN2) mutation. It typically consists of a slow progressive cerebellar ataxia with an onset principally in adulthood. Here, we report on the first Japanese patient with infantile-onset SCA5 associated with a novel heterozygous SPTBN2 mutation.Case reportThe patient, a 6-year-old girl, developed delayed motor development and unsteady arm movement during infancy. She also showed gaze-evoked nystagmus, saccadic eye pursuit, dysarthria, dysmetria, intention tremor and mild intellectual disability. Brain MRI revealed moderate cerebellar atrophy and mild pontine atrophy. Comprehensive target capture sequencing to identify the causative gene identified a novel missense mutation in SPTBN2 (c.1309C<G, p.R437G), which was thought to be pathogenic.DiscussionTwo patients with infantile-onset SCA5 associated with another novel heterozygous SPTBN2 mutation have recently been reported; these SPTBN2 mutations, which may have a significant impact on protein function, were located in the second spectrin. Our findings indicate that SPTBN2 mutations may be associated with infantile-onset cerebellar ataxia accompanied with global developmental delay.     

Longitudinal magnetic resonance imaging changes in Japanese encephalitis

BackgroundJapanese encephalitis is a flavivirus that can cause pandemic encephalitis, and is prevalent in Southeast Asia and Australia. Brain images of patients with Japanese encephalitis are characterized by thalamic lesions, distinct from those seen in viral encephalopathies caused by the herpes simplex virus and West Nile virus.AimHerein, we describe for the first time a time-dependent magnetic resonance imaging pattern in Japanese encephalitis in a 10-month-old Japanese boy.CaseThe patient was a previously healthy 10-month-old Japanese boy, who exhibited acute-onset flaccid tetraplegia and loss of tendon reflexes.ResultsBrain MRI showed characteristic thalamic changes on diffusion weighted images from spotty to uniform and from the left to the right side, associated with low apparent diffusion coefficient maps. These images suggest that the Japanese encephalitis virus may first affect the unilateral thalamus, possibly expanding to the other side, with characteristic patterns changing from spotty to uniform in a manner consistent with the presentation of cytotoxic edema.ConclusionThis report first showed longitudinal magnetic resonance changes in Japanese encephalitis, which may help in accurate diagnosis and in discrimination from other etiologies.     

A 16q22.2-q23.1 deletion identified in a male infant with West syndrome

In partial monosomy of the distal part of chromosome 16q, abnormal facial features, intellectual disability (ID), and feeding dysfunction are often reported. However, seizures are not typical and the majority of them were seizure-free. Here we present the case of a 16q22.2-q23.1 interstitial deletion identified in a male patient with severe ID, facial anomalies including forehead protrusions and flat nose bridge, patent ductus arteriosus, bilateral vocal cord atresia treated by tracheotomy, and West syndrome, which were developed 10 months after birth. Although phenobarbital, sodium valproate (VPA), and zonisamide were not effective as monotherapies or combination therapies, the patient's epileptic seizures and electroencephalogram anomalies disappeared following combined therapy with lamotrigine and VPA. Although WW Domain Containing Oxidoreductase (WWOX), which is known as a cause of autosomal recessive epileptic encephalopathy, was included within the 6.8-Mb deleted region which identified by targeted panel sequencing and validated by chromosomal microarray analysis, no pathogenic variants were detected in the other allele of WWOX. Therefore, it is possible that other genes within or outside of the long deleted region or their interactions may cause West syndrome in this patient.     

Two-dimensional echocardiographic evaluation of discrete subaortic stenosis from the apical long axis view

M-mode and standard two-dimensional (2DE) left parasternal long axis echocardiographic examination of the left ventricular outflow tract (LVOT) was evaluated exclusively with respect to its utility in identifying discrete subaortic stenosis (SUB-AS). Important details of the anatomy of the subaortic area may also be obtained from 2DE apical long axis imaging. Accordingly, 18 patients with discrete SUB-AS were prospectively evaluated by M-mode and 2DE. The M-mode findings included narrowing of the LVOT and early systolic closure of the aortic valve. However, these findings were variable and highly dependent upon scan speed, fluid flow dynamics, and beam angulation. 2DE findings varied using the standard long axis view at the left parasternal border, depending upon the type of obstruction present. A discrete membrane produced linear echoes adjacent and parallel to the interventricular septum beneath the aortic valve. Fibromuscular obstruction produced a localized dense ridge of echoes in the LVOT. These findings were not apparent in five patients studied. In these patients, the 2DE apical long axis view was employed to image the subaortic area. From this tomographic crosssection a fibrous membrane was imaged as a linear echo parallel to the aortic valve. The membrane extended across the LVOT from the ventricular septum to the anterior leaflet of the mitral valve. The 2DE apical long axis view therefore provides an additional approach in the evaluation of patients with discrete SUB-AS.     

Cardiovascular disturbances in chronic respiratory insufficiency

The mechanical factors by which chronic respiratory insufficiency may influence right and left ventricular performance during both spontaneous and mechanical ventilation are reviewed. During a spontaneous inspiration the right heart distends because of increased inflow and increased pulmonary vascular resistance. This decreases the effective left ventricular compliance, through ventricular interdependence, reducing the gradient for pulmonary venous return. The inspiratory decrease in pleural pressure also effectively increases the impedance to left ventricular ejection. An inspiratory increase in abdominal pressure further increases the left ventricular afterload. These factors combine to impair left ventricular performance. During intermittent positive pressure ventilation, left ventricular stroke volume increases early in inspiration. This increased inspiratory flow cannot be attributed to a phase lag in the right heart output reaching the left heart chambers because, even with a constant pulmonary arterial inflow, aortic flow increases during inspiration. Several factors may act in concert to improve left ventricular performance, despite the adverse effects of intermittent positive pressure ventilation on the right ventricle. These include (1) a decrease in right heart volume, increasing left ventricular compliance and hence the gradient for pulmonary venous return; (2) anterograde emptying of the alveolar capillary bed with lung inflation; (3) the increase in pleural pressure decreasing impedance to left ventricular emptying; and (4) physical compression of the heart by the lungs.     

Body composition changes in children receiving human growth hormone

Skinfold thickness was found to decrease during the first 6–10 wk and then remain constant when human growth hormone therapy was begun in 34 growth hormone-deficient children. Linear growth increased at a constant rate during the first 6 mo. Two children, who routinely received their injection in the same arm at the same site, developed a localized area of markedly diminished subcutaneous fat at the injection site, Height, weight, total-body potassium, and triceps skinfold thickness were measured at 2-mo intervals in nine children receiving human growth hormone. Total-body potassium was measured with the 54-Nal detector whole-body counter of the Brookhaven National Laboratory. The study extended over a period of 20 consecutive mo. Triceps skinfold thickness rapidly decreased during the initiation of therapy with growth hormone, and returned to pretreatment values during a 5-mo control period when therapy was temporarily discontinued. Rate of weight gain was most rapid during this 5-mo control period and was reduced during two periods when growth hormone was being administered. Total body potassium and height increased very little during the control period when weight gain was greatest, and both increased rapidly during the two periods of growth hormone treatment. The data show clearly the initial changes in body fat and lean tissue that occur when human growth hormone is administered to children with growth deficiency.     

Safety and immediate effects of Hybrid Assistive Limb in children with cerebral palsy: A pilot study

PurposeEarly intervention is effective for developing motor ability and preventing contractures and deformities in patients with cerebral palsy (CP). Gait training using the newly developed Hybrid Assistive Limb (HAL) shows promise as an intervention to prevent deterioration in walking ability and deformities in pediatric CP patients. The purpose of this pilot study was to examine the safety and immediate effects on walking ability after gait training using the HAL in pediatric CP patients.MethodsNineteen patients (six females, 13 males; mean age 8.5 years; mean height 120.5 cm; mean weight 23.2 kg) were enrolled. The Gross Motor Functional Classification Scale level was I in two patients, II in two, III in eight, and IV in seven. The HAL was used for a single session of gait training. The primary outcome was safety of the HAL for use in pediatric CP patients. The secondary outcome was the immediate effect after gait training with HAL, evaluated by passive range of motion (ROM) and gait parameters, including gait speed (m/s), step length (cm), and cadence (step/min).ResultsAll 19 patients were able to carry out the gait training without any severe adverse events. Significant improvements were observed for mean internal/external rotation and abduction angles of the hip joint, and ankle dorsiflexion angles (n = 19). Significant improvements were observed for mean gait speed and step length based on expansion of the hip flexion-extension range (n = 11).ConclusionGait training using the HAL is safe and can produce immediate improvements in ROM and walking ability in pediatric patients with CP.     

Burn survivors injured as children exhibit resilience in long-term community integration outcomes: A life impact burn recovery evaluation (LIBRE) study

IntroductionThere is limited understanding of how burn injuries at different ages are associated with normal growth and development as well as the burn recovery process. This study provides new useful insights by comparing social participation outcomes among burn survivors injured in childhood compared with injuries sustained in middle age, and older adulthood.MethodsItems from the development of the LIBRE profile were administered to 601 adult burn survivors with ≥5% TBSA burned or burns to critical areas (hands, feet, face, or genitals). Each item was answered on a 5-point Likert scale with higher scores denoting better outcomes. Mean scores for the 6 LIBRE profile scales (sexual relationships, family and friends, social interactions, social activities, work and employment, and romantic relationships) were compared between those burned as children (<18 years) and those burned as adults (≥18 years). Regression analyses were used to assess differences between groups with adjustment for demographic and clinical characteristics.ResultsOf the 597 burn survivors having complete data on age at injury, 165 (27.6%) sustained burn injuries as a child. Those burned as children were more frequently female than those burned as adults (57% vs 47%) and were also more frequently white non-Hispanic (89% vs 77%). Marital status and education level were similar in the two groups. Those who were burned as children had slightly higher scores on the social activities, work and employment and romantic relationships scales. However, these differences did not persist in adjusted regression analyses.ConclusionsBurn survivors who sustained injuries as a child fared at least as well as those burned as adults in a broad range of long-term social participation outcomes. The impact on long-term social participation outcomes of burn survivors was not significantly different between individuals with burns sustained during important developmental stages at young ages and those injured later in life.