Project description:Left ventricular noncompaction (LVNC) is a distinct cardiomyopathy that is morphologically characterized by a two-layered myocardium, numerous prominent trabeculations, and deep intertrabecular recesses communicating with the left ventricular cavity. We present a case report regarding the identification of a new mutation in TNNI3 in a patient with LVNC using next-generation sequencing. A 13-year-old girl who had no family history of cardiac disease was hospitalized with dyspnea after exercise and electrocardiographic abnormalities during a school screening. Based on her clinical features, she was diagnosed with LVNC. Via genetic analysis, a TNNI3 heterozygous missense variant was identified in the proband. Although mutations in TNNI3 have been reported in patients with hypertrophic cardiomyopathy and restrictive cardiomyopathy, this is the first report of a mutation in this gene in a patient with LVNC. <Learning objective: We identified a variant in TNNI3 in a patient with isolated left ventricular noncompaction using next-generation sequencing (NGS). Mutations in TNNI3 have been reported in patients with hypertrophic cardiomyopathy and restrictive cardiomyopathy. The use of NGS also results in the identification of multiple genetic variants of unknown significance to the investigated disease.>.
Project description:Germinomas presenting with a pituitary stalk lesion and panhypopituitarism are rare in children, and their definite diagnosis is challenging. An invasive diagnostic approach, such as a transsphenoidal biopsy, is often required prior to establishing a treatment regimen. A 13-year-old female presented with 1 year of secondary amenorrhea, fatigue, and progressive thirst with polyuria. Laboratory work-up revealed panhypopituitarism (central hypothyroidism, hypogonadotropic hypogonadism, adrenal insufficiency and central diabetes insipidus). ?-Fetoprotein and ?-human chorionic gonadotropin were not elevated in serum nor in cerebrospinal fluid. The magnetic resonance imaging (MRI) of the pituitary region showed an enhancing infundibular lesion, extending into the hypothalamus, and infiltrating the pituitary gland. A transsphenoidal biopsy of the infundibular lesion confirmed the diagnosis of germinoma (germ-cell tumor). After appropriate hormone replacement therapy, chemotherapy and low-dose radiation therapy, the patient achieved complete resolution of the pituitary stalk lesion on the MRI.
Project description:We report the case of a 13-year-old boy who, while running in a school gymnasium, experienced sudden syncope and seizure. CPR was started immediately, and an automated external defibrillator (AED) was attached, but shock was not induced. He was referred to our hospital for loss of consciousness and intermittent general tonic-clonic seizure. A 12-lead electrocardiogram showed normal sinus rhythm and no ST-T wave abnormalities. Echocardiography showed normal structural heart and normal cardiac function. On the second day of hospitalization, AED electrocardiogram showed complete atrioventricular (AV) block at syncope and seizure. After the patient recovered from this neurological state, we performed the treadmill exercise test, and it did not show ST-T wave abnormalities or AV block, and he did not complain of chest pain. Coronary angiography showed atresia of the left main trunk and the collateral vessel from the right coronary artery connected to the left coronary artery. He was diagnosed with congenital left main coronary artery atresia. We began administration of calcium antagonist and aspirin to prevent a coronary artery spasm and then performed a coronary artery bypass graft (CABG) to prevent sudden cardiac death. After CABG, he has had no syncope episodes at rest or during light exercise. <Learning objective: In pediatric patients, syncope during strenuous exercise should mandate exclusion of cardiac events, especially coronary artery anomalies. Coronary artery anomalies that could cause sudden cardiac death sometimes show no abnormalities at rest or even during exercise stress on 12-lead electrocardiogram. It is very important to suspect cardiogenic syncope during strenuous exercise.>.
Project description:This experiment examined changes in body sway after Wingate test (WAnT) in 19 adolescents practicing alpine skiing, subjected to the same type of training load for 4-5 years (10 girls and nine boys). The postural examinations were performed with eyes open (EO), eyes closed (EC), and sway reverenced vision (SRV) in the medial-lateral (ML) and anterior-posterior (AP) planes. The displacement of center of foot pressure (CoP), range of sway (RS), mean sway velocity (MV), way length, and surface area were measured in bipedal upright stance before and after the WAnT to assess the influence of fatigue on postural balance. There were no significant differences in WAnT parameters between girls and boys. Relative peak power (RPP), relative total work (RWtot) were (girls vs. boys) 8.89 ± 0.70 vs. 9.57 ± 1.22 W/kg, p < 0.05 and 227.91 ± 14.98 vs. 243.22 ± 30.24 W/kg, p < 0.05 respectively. The fatigue index (FI) was also on similar level in both genders; however, blood lactate concentration (BLa) was significantly higher in boys (10.35 ± 1.16 mM) than in girls (8.67 ± 1.35 mM) p = 0.007. In the EO examination, statistically significant differences between resting and fatigue conditions in the whole group and after the division into girls and boys were found. In fatigue conditions, significant gender differences were noted for measurements in the ML plane (sway path and RS) and RS in the AP plane. Comparison of the three conditions shows differences between EO vs. EC and SRV in AP plane measured parameters, and for RS in ML plane in rest condition in girls. The strong correlations between FI and CoP parameters mainly in ML plane in the whole group for all examination conditions were noted. By genders, mainly RS in ML plane strongly correlates with FI (r > 0.7). No correlation was found between BLa and CoP parameters (p > 0.06). The presented results indicate that subjecting adolescents of both genders to the same training may reduce gender differences in the postural balance ability at rest but not in fatigue conditions and that girls are significantly superior in postural balance in the ML plane than boys. It was also shown that too little or too much information may be destructive to postural balance in young adolescents.
Project description:Highlights•Spindle cell sarcoma is rare and may remain silent until advanced.•Symptoms include obstruction, local invasion, embolism, and sudden cardiac death.•It is a highly aggressive tumor and can metastasize quickly.•Overall prognosis is poor, with a mean survival of 3 months to 1 year.•Several imaging modalities are used, including echocardiography, CT, and cardiac MRI.
Project description:OBJECTIVES:We examined the associations between adolescents' health assets and various health indicators (smoking, alcohol use, sleep length, physical activity, healthy eating, oral health, self-reported health, multiple health complaints). METHODS:A nationally representative sample was drawn from Finnish-speaking schools, comprising 13- and 15-year-old adolescents (n?=?3833). The measures taken covered the adolescents' health assets, which were labelled Family-financial, Psychological, Family-social, Friends-social, School-social, and Human. Our analysis applied two-step cluster analysis and multilevel mixed-effects binary logistic regression. RESULTS:Six asset profiles were identified: 'Limited in most assets, despite medium affluence', 'Mostly average assets, but low affluence', 'Mostly average assets, though high affluence', 'Mostly above average assets', 'Rich in most assets', and 'Rich in all assets'. There were significant differences between the profiles in terms of risk level and desirable level health outcomes. CONCLUSIONS:Adolescents differ in their asset profiles. Having multiple health assets appears to protect adolescents from risky behaviour or poor health, and to promote positive health. There is a need for health initiatives to develop a range of health-protecting and health-promoting assets, rather than focus on only one.
Project description:Clinical History:A 57-year old woman presented with left hand pain, periodic leg movement during sleep, gradual onset of stiffness, clumsiness, and falls. Neurological examination showed: generalized rigidity and bradykinesia. There was left hand dystonic posturing and ideomotor apraxia, as well as mirror movements of upper limbs and stimulus-sensitive myoclonus. The patient had a high-pitched voice and hypophonia (Video S1). Discussion:Experts discuss localization and the syndromic diagnosis and predict the underlying pathology. The pathological diagnosis is then provided and clinical learning points are considered.
Project description:Our objective is to report a case of thyrotoxicosis following pituitary adenectomy for Cushing's disease, the only pediatric case to our knowledge. No thyroid antibodies were detected, and the thyrotoxicosis was successfully treated for 3 months with no relapse after 5 years of follow-up. The cause of thyrotoxicosis remains unknown.
Project description:Here, we report the main characteristics of Actinomyces urinae strain Marseille-P2225(T) (CSURP2225) isolated from a human urine sample.