infantile exercise

Paroxysmal movement disorders include paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, paroxysmal exercise-induced dyskinesia, and episodic ataxias. In recent years, there has been renewed interest and recognition of these disorders and their intersection with epilepsy, at the molecular and pathophysiological levels. In this review, we discuss how these distinct phenotypes were constructed from a historical perspective and discuss how they are currently coalescing into established genetic etiologies with extensive pleiotropy, emphasizing clinical phenotyping important for diagnosis and for interpreting results from genetic testing...

Mutations in the TNNT1 gene cause an infantile, lethal form of myopathy named "Amish" Nemaline Myopathy. Adult patients are very rarely described. We report a 49-year-old patient who presented a slowly progressive phenotype characterized by myalgia, exercise intolerance and dyspnea since infancy. In adult life she lapsed into a coma as a result of acute respiratory failure, with the need of tracheostomy, subsequently removed once her respiratory condition improved. Afterwards, non-invasive ventilation was started...

INTRODUCTION: In Spain, childhood obesity is worrying, and its development might be influenced by the family setting. The objectives were to determine the prevalence of excess weight among adolescents, evaluate family variables that could affect it, and determine parents' body perception. POPULATION AND METHODS: Cross-sectional study; students from five secondary schools in health area V of the Region of Murcia were included. Students' anthropometric measurements were recorded and a survey was administered to parents, including variables such as weight, height, exercise, level of education, family structure, and body perception...

BACKGROUND: Alström syndrome (ALMS) is a monogenic ultra-rare disorder with a prevalence of one per million inhabitants caused by pathogenic variants of ALMS1 gene. ALMS1 is located on chromosome 2p13, spans 23 exons and encodes a predicted 461.2-kDa protein of 4169 amino acids. The infantile cone-rod dystrophy with nystagmus and severe visual impairment is the earliest and most consistent clinical manifestation of ALMS. In addition, infantile transient cardiomyopathy, early childhood obesity with hyperphagia, deafness, insulin resistance (IR), type 2 diabetes mellitus (T2DM), systemic fibrosis and progressive renal or liver dysfunction are common findings...

Phosphoglucomutase 1 deficiency is a congenital disorder of glycosylation (CDG) with multiorgan involvement affecting carbohydrate metabolism, N-glycosylation and energy production. The metabolic management consists of dietary D-galactose supplementation that ameliorates hypoglycemia, hepatic dysfunction, endocrine anomalies and growth delay. Previous studies suggest that D-galactose administration in juvenile patients leads to more significant and long-lasting effects, stressing the urge of neonatal diagnosis (0-6 months of age)...

Five years have passed since the Japanese Pediatric Guideline for Food Allergy (JPGFA) was first revised in 2011 from its original version. As many scientific papers related to food allergy have been published during the last 5 years, the second major revision of the JPGFA was carried out in 2016. In this guideline, food allergies are generally classified into four clinical types: (1) neonatal and infantile gastrointestinal allergy, (2) infantile atopic dermatitis associated with food allergy, (3) immediate-type of food allergy (urticaria, anaphylaxis, etc...

BACKGROUND: Glycogen storage disease type II (GSDII) or Pompe disease is a rare autosomal recessive metabolic disorder that leads to intracellular glycogen storage in many tissues, mainly in skeletal muscle, heart and liver. Facial muscle weakness and altered craniofacial growth are very common in Pompe disease children. In this paper we describe the orofacial features in two children affected by GSDII and illustrate a multidisciplinary approach that involved enzyme replace therapy, non-invasive ventilation (NIV) and pediatric dentistry with 5-year follow-up...

In recent years, >100 cases of coronary artery stenotic lesions due to Kawasaki disease were treated with coronary artery bypass grafting (CABG). Surgical indications include stenosis of >75%, myocardial infarction history, electrocardiographic changes, and ischemia, as detected by myocardial scintigraphy and electrocardiography, due to drugs or exercise. Some centers have reported good patency rates, even in infants. The advantages of CABG in younger patients are minimal loss of left ventricular function, early elimination of post-operative ischemia risk, and improved quality of life...

Hypertension is a growing health problem in children, and it is an important parameter of cardiovascular risk for adults. It is classified as primary (influenced by obesity, sedentary lifestyles and poor-quality food) or secondary to underlying causes. The AAP 2017 guidelines recommend measuring blood pressure every year from the age of three and in children under the age of three only if they have known risk factors. The measurement of infantile hypertension is relatively complicated and instable and, for this reason, ambulatory blood pressure monitoring (ABPM) and multiple office BP measurement (mOBPM), especially in infants who are not collaborating are indicated...

INTRODUCTION: Metabolic myopathies comprise a clinically etiological diverse group of disorders caused by defects in cellular energy metabolism including the breakdown of carbohydrates and fatty acids, which include glycogen storage diseases and fatty acid oxidation disorders. Their wide clinical spectrum ranges from infantile severe multisystemic disorders to adult-onset myopathies. To suspect in adults these disorders, clinical features such as exercise intolerance and recurrent myoglobinuria need investigation while another group presents fixed weakness and cardiomyopathy as a clinical pattern...

INTRODUCTION: ECHS1 encodes for short-chain enoyl-CoA hydratase, a key component in b-oxidation. This enzyme is also involved in the isoleucine and valine catabolic pathways. The literature contains reports of scattered cases of ECHS1 mutation, which show a wide clinical spectrum of presentation. Despite that the clinical spectrum of the disease has not been defined so far due to the absence of previous systematic reviews and descriptions of large series of patients. METHODS: We performed a systematic literature review of so far reported ECHS1 mutated patients and we reported two additional cases...

BACKGROUND: Left ventricular noncompaction (LVNC) is a rare form of cardiomyopathy currently described in humans and cats. It consists of a spongy myocardium characterized by prominent trabeculation and deep recesses involving more than 50% of the ventricular thickness. We describe the clinical and pathological features of LVNC combined with tricuspid valve dysplasia, double-orifice tricuspid valve and severe pulmonary stenosis in a puppy. In addition, we briefly review the LVNC causes, pathogenesis, forms and current diagnostic criteria...

Idiopathic scoliosis is the largest group of all forms of scoliosis in the growth phase accounting for 80-90%. A distinction is made between idiopathic infantile (0-3 years), juvenile (4-10 years) and adolescent scoliosis (>10 years), depending on the age when scoliosis appears. The treatment depends on the skeletal age, the Cobb angle and the progression behavior of scoliosis. Mild cases are treated conservatively using physiotherapy, exercises and bracing but in advanced stages scoliosis should be surgically treated...

Carnitine palmitoyltransferase (CPT) catalyzes the transfer of long- and medium-chain fatty acids from cytoplasm into mitochondria, where oxidation of fatty acids takes place. Deficiency of CPT enzyme is associated with rare diseases of fatty acid metabolism. CPT is present in two subforms: CPT I at the outer mitochondrial membrane and carnitine palmitoyltransferase II (CPT II) inside the mitochondria. Deficiency of CPT II results in the most common inherited disorder of long-chain fatty acid oxidation affecting skeletal muscle...

Background: Infantile X-linked spinal muscular atrophy (SMAX2) is a rare type of spinal muscular atrophy associated with UBA1 variants. Methods: Clinical imaging and neurophysiological tests were performed on a Chinese patient with SMAX2. Further, focused panel sequencing of UBA1 was carried out on samples of both the proband and his maternal relatives. Results: The proband, a 4-year-old boy with the SMAX2 phenotype, suffered from reduced exercise capacity since infancy. His other symptoms included speech difficulties, severe nasal tone, reduced distal muscle strength, areflexia, and inadequate sucking ability...

BACKGROUND: Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of early infancy, and/or with dyskinetic paroxysms such as paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, and exercise-induced dyskinesia. However, the clinical manifestations of this disorder vary widely. PRRT2 encodes a protein expressed in the central nervous system that is mainly localized in the pre-synaptic neurons and is involved in the modulation of synaptic neurotransmitter release...

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Pompe disease (PD) is a rare neuromuscular disorder caused by a deficiency of the enzyme acid alpha-glucosidase. There are three forms of PD depending on the age at onset and clinical severity. PD causes involvement of different organ systems, such as the heart, musculoskeletal system, and respiratory system. As of today, enzyme replacement therapy represents the main therapeutic tool for PD. Rehabilitation is an integral part of a multidisciplinary approach to this pathology. The goal of the present review is to find scientific evidence for the rehabilitative approach to PD, with respect to both the infantile- and adult-onset forms...

Objective: Normal sensory perception and environmental stimuli play an important role in learning and development of basic milestones among children. The current research aimed to explore the effects of sensory integration on attention span among children with infantile hemiplegia (IH). Methods: Quasi-experimental research design with a control group. 17 children who had left-sided IH visiting the Rehabilitation Centre were recruited for the study (sample of convenience) after their parental consent...

PURPOSE: The aims of this study were to verify proximal phalangeal head normalization after a stretching exercise in patients with infantile-type camptodactyly and to propose radiographic indices for quantifying bony deformities. METHODS: Forty-eight fingers of 20 patients with camptodactyly were enrolled in this study. All patients and their parents received instruction on how to perform the stretching exercise. The qualitative assessments of proximal phalangeal head remodeling were conducted by consensus of 2 hand surgeons...