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Sample records for infantile multisystemic disease

  1. Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.

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    Picker-Minh, Sylvie; Mignot, Cyril; Doummar, Diane; Hashem, Mais; Faqeih, Eissa; Josset, Patrice; Dubern, Béatrice; Alkuraya, Fowzan S; Kraemer, Nadine; Kaindl, Angela M

    2016-04-29

    Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) has been recently linked to biallelic mutation of the peptidyl-tRNA hydrolase 2 gene PTRH2. Two index patients with IMNEPD in the original report had multiple neurological symptoms such as postnatal microcephaly, intellectual disability, developmental delay, sensorineural deafness, cerebellar atrophy, ataxia, and peripheral neuropathy. In addition, distal muscle weakness and abnormalities of thyroid, pancreas, and liver were found. Here, we report five further IMNEPD patients with a different homozygous PTRH2 mutation, broaden the phenotypic spectrum of the disease and differentiate common symptoms and interindividual variability in IMNEPD associated with a unique mutation. We thereby hope to better define IMNEPD and promote recognition and diagnosis of this novel disease entity.

  2. Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness.

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    Hu, Hao; Matter, Michelle L; Issa-Jahns, Lina; Jijiwa, Mayumi; Kraemer, Nadine; Musante, Luciana; de la Vega, Michelle; Ninnemann, Olaf; Schindler, Detlev; Damatova, Natalia; Eirich, Katharina; Sifringer, Marco; Schrötter, Sandra; Eickholt, Britta J; van den Heuvel, Lambert; Casamina, Chanel; Stoltenburg-Didinger, Gisela; Ropers, Hans-Hilger; Wienker, Thomas F; Hübner, Christoph; Kaindl, Angela M

    2014-12-01

    To identify the cause of a so-far unreported phenotype of infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). We characterized a consanguineous family of Yazidian-Turkish descent with IMNEPD. The two affected children suffer from intellectual disability, postnatal microcephaly, growth retardation, progressive ataxia, distal muscle weakness, peripheral demyelinating sensorimotor neuropathy, sensorineural deafness, exocrine pancreas insufficiency, hypothyroidism, and show signs of liver fibrosis. We performed whole-exome sequencing followed by bioinformatic analysis and Sanger sequencing on affected and unaffected family members. The effect of mutations in the candidate gene was studied in wild-type and mutant mice and in patient and control fibroblasts. In a consanguineous family with two individuals with IMNEPD, we identified a homozygous frameshift mutation in the previously not disease-associated peptidyl-tRNA hydrolase 2 (PTRH2) gene. PTRH2 encodes a primarily mitochondrial protein involved in integrin-mediated cell survival and apoptosis signaling. We show that PTRH2 is highly expressed in the developing brain and is a key determinant in maintaining cell survival during human tissue development. Moreover, we link PTRH2 to the mTOR pathway and thus the control of cell size. The pathology suggested by the human phenotype and neuroimaging studies is supported by analysis of mutant mice and patient fibroblasts. We report a novel disease phenotype, show that the genetic cause is a homozygous mutation in the PTRH2 gene, and demonstrate functional effects in mouse and human tissues. Mutations in PTRH2 should be considered in patients with undiagnosed multisystem neurologic, endocrine, and pancreatic disease.

  3. Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

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    Hu, Hao; Matter, Michelle L; Issa-Jahns, Lina; Jijiwa, Mayumi; Kraemer, Nadine; Musante, Luciana; de la Vega, Michelle; Ninnemann, Olaf; Schindler, Detlev; Damatova, Natalia; Eirich, Katharina; Sifringer, Marco; Schrötter, Sandra; Eickholt, Britta J; van den Heuvel, Lambert; Casamina, Chanel; Stoltenburg-Didinger, Gisela; Ropers, Hans-Hilger; Wienker, Thomas F; Hübner, Christoph; Kaindl, Angela M

    2014-01-01

    Objective To identify the cause of a so-far unreported phenotype of infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). Methods We characterized a consanguineous family of Yazidian-Turkish descent with IMNEPD. The two affected children suffer from intellectual disability, postnatal microcephaly, growth retardation, progressive ataxia, distal muscle weakness, peripheral demyelinating sensorimotor neuropathy, sensorineural deafness, exocrine pancreas insufficiency, hypothyroidism, and show signs of liver fibrosis. We performed whole-exome sequencing followed by bioinformatic analysis and Sanger sequencing on affected and unaffected family members. The effect of mutations in the candidate gene was studied in wild-type and mutant mice and in patient and control fibroblasts. Results In a consanguineous family with two individuals with IMNEPD, we identified a homozygous frameshift mutation in the previously not disease-associated peptidyl-tRNA hydrolase 2 (PTRH2) gene. PTRH2 encodes a primarily mitochondrial protein involved in integrin-mediated cell survival and apoptosis signaling. We show that PTRH2 is highly expressed in the developing brain and is a key determinant in maintaining cell survival during human tissue development. Moreover, we link PTRH2 to the mTOR pathway and thus the control of cell size. The pathology suggested by the human phenotype and neuroimaging studies is supported by analysis of mutant mice and patient fibroblasts. Interpretation We report a novel disease phenotype, show that the genetic cause is a homozygous mutation in the PTRH2 gene, and demonstrate functional effects in mouse and human tissues. Mutations in PTRH2 should be considered in patients with undiagnosed multisystem neurologic, endocrine, and pancreatic disease. PMID:25574476

  4. Nonalcoholic fatty liver disease - A multisystem disease?

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    Mikolasevic, Ivana; Milic, Sandra; Turk Wensveen, Tamara; Grgic, Ivana; Jakopcic, Ivan; Stimac, Davor; Wensveen, Felix; Orlic, Lidija

    2016-01-01

    Non-alcoholic fatty liver disease (NAFLD) is one of the most common comorbidities associated with overweight and metabolic syndrome (MetS). Importantly, NAFLD is one of its most dangerous complications because it can lead to severe liver pathologies, including fibrosis, cirrhosis and hepatic cellular carcinoma. Given the increasing worldwide prevalence of obesity, NAFLD has become the most common cause of chronic liver disease and therefore is a major global health problem. Currently, NAFLD is predominantly regarded as a hepatic manifestation of MetS. However, accumulating evidence indicates that the effects of NAFLD extend beyond the liver and are negatively associated with a range of chronic diseases, most notably cardiovascular disease (CVD), diabetes mellitus type 2 (T2DM) and chronic kidney disease (CKD). It is becoming increasingly clear that these diseases are the result of the same underlying pathophysiological processes associated with MetS, such as insulin resistance, chronic systemic inflammation and dyslipidemia. As a result, they have been shown to be independent reciprocal risk factors. In addition, recent data have shown that NAFLD actively contributes to aggravation of the pathophysiology of CVD, T2DM, and CKD, as well as several other pathologies. Thus, NAFLD is a direct cause of many chronic diseases associated with MetS, and better detection and treatment of fatty liver disease is therefore urgently needed. As non-invasive screening methods for liver disease become increasingly available, detection and treatment of NAFLD in patients with MetS should therefore be considered by both (sub-) specialists and primary care physicians. PMID:27920470

  5. Reversible infantile mitochondrial diseases.

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    Boczonadi, Veronika; Bansagi, Boglarka; Horvath, Rita

    2015-05-01

    Mitochondrial diseases are usually severe and progressive conditions; however, there are rare forms that show remarkable spontaneous recoveries. Two homoplasmic mitochondrial tRNA mutations (m.14674T>C/G in mt-tRNA(Glu)) have been reported to cause severe infantile mitochondrial myopathy in the first months of life. If these patients survive the first year of life by extensive life-sustaining measures they usually recover and develop normally. Another mitochondrial disease due to deficiency of the 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) causes severe liver failure in infancy, but similar to the reversible mitochondrial myopathy, within the first year of life these infants may also recover completely. Partial recovery has been noted in some other rare forms of mitochondrial disease due to deficiency of mitochondrial tRNA synthetases and mitochondrial tRNA modifying enzymes. Here we summarize the clinical presentation of these unique reversible mitochondrial diseases and discuss potential molecular mechanisms behind the reversibility. Understanding these mechanisms may provide the key to treatments of potential broader relevance in mitochondrial disease, where for the majority of the patients no effective treatment is currently available.

  6. Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA)

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    Hill, Suvimol C.; Dwyer, Andrew [Warren G. Magnuson Clinical Center, Diagnostic Radiology, National Institutes of Health (NIH), Bethesda, MD (United States); Namde, Madjimbaye; Canna, Scott; Goldbach-Mansky, Raphaela [National Institutes of Health (NIH), National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD (United States); Poznanski, Andrew [Northwestern University, Department of Radiology, Medical Imaging, Children' s Memorial Hospital, Chicago, IL (United States)

    2007-02-15

    Neonatal onset multisystem inflammatory disease (NOMID), an autoinflammatory disease, is characterized by fever, chronic urticarial rash, CNS manifestations, and arthropathy. Approximately 50% of patients with NOMID have de novo missense mutations in CIAS1, which is associated with modulation of the IL-1b and apoptotic pathways. Approximately 60% of NOMID patients have prominent arthropathy, most commonly involving the knees, the cause of which remains poorly understood. To more fully describe the findings of NOMID arthropathy on MRI and radiography and to provide a better understanding of the origin of the bony lesions. We imaged 20 patients with NOMID to further investigate NOMID-associated bony lesions. Bony abnormalities were seen in the knees of 11/20 patients. The knee findings included enlarged, deformed femora and patellae in all and tibiae in the majority, without evidence of synovitis. Some patients had other joint involvement. Most had short stature and valgus or varus knee deformities. No association was noted between bony abnormalities and CIAS1 mutations. The abnormalities appeared to be the result of a mass-producing process. The resulting heterogeneously calcified masses appeared to originate in the physis and deformed the adjacent metaphysis and epiphysis. These findings suggest that the arthropathy of NOMID is the result of abnormal endochondral bone growth. Further investigation is needed to determine whether this deformity is triggered by inflammation early in development or by CIAS1 mutations causing abnormal chondrocyte apoptosis. (orig.)

  7. Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA)

    International Nuclear Information System (INIS)

    Hill, Suvimol C.; Dwyer, Andrew; Namde, Madjimbaye; Canna, Scott; Goldbach-Mansky, Raphaela; Poznanski, Andrew

    2007-01-01

    Neonatal onset multisystem inflammatory disease (NOMID), an autoinflammatory disease, is characterized by fever, chronic urticarial rash, CNS manifestations, and arthropathy. Approximately 50% of patients with NOMID have de novo missense mutations in CIAS1, which is associated with modulation of the IL-1b and apoptotic pathways. Approximately 60% of NOMID patients have prominent arthropathy, most commonly involving the knees, the cause of which remains poorly understood. To more fully describe the findings of NOMID arthropathy on MRI and radiography and to provide a better understanding of the origin of the bony lesions. We imaged 20 patients with NOMID to further investigate NOMID-associated bony lesions. Bony abnormalities were seen in the knees of 11/20 patients. The knee findings included enlarged, deformed femora and patellae in all and tibiae in the majority, without evidence of synovitis. Some patients had other joint involvement. Most had short stature and valgus or varus knee deformities. No association was noted between bony abnormalities and CIAS1 mutations. The abnormalities appeared to be the result of a mass-producing process. The resulting heterogeneously calcified masses appeared to originate in the physis and deformed the adjacent metaphysis and epiphysis. These findings suggest that the arthropathy of NOMID is the result of abnormal endochondral bone growth. Further investigation is needed to determine whether this deformity is triggered by inflammation early in development or by CIAS1 mutations causing abnormal chondrocyte apoptosis. (orig.)

  8. Multisystem Radiologic Manifestations of Erdheim-Chester Disease

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    Umairullah Lodhi

    2016-01-01

    Full Text Available Erdheim-Chester Disease is a rare form of multiorgan non-Langerhans’ cell histiocytosis that affects individuals between the ages of 50 and 70 with an equal distribution among males and females. It is associated with significant morbidity and mortality that is mostly due to infiltration of critical organs. Some of the sites that Erdheim-Chester Disease affects include the skeletal system, central nervous system, cardiovascular system, lungs, kidneys (retroperitoneum, and skin. The most common presenting symptom of Erdheim-Chester Disease is bone pain although a large majority of patients are diagnosed incidentally during a workup for a different disease process. Diagnosing Erdheim-Chester Disease is challenging due its rarity and mimicry to other infiltrative processes. Therefore, a multimodality diagnostic approach is employed with imaging being at the forefront. As of date, a comprehensive radiologic review of the manifestations of Erdheim-Chester Disease has rarely been reported. Here we present radiologic findings of an individual suffering from Erdheim-Chester Disease.

  9. Can bipolar disorder be viewed as a multi-system inflammatory disease?

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    Leboyer, Marion; Soreca, Isabella; Scott, Jan; Frye, Mark; Henry, Chantal; Tamouza, Ryad; Kupfer, David J.

    2012-01-01

    Background Patients with bipolar disorder are known to be at high risk of premature death. Comorbid cardio-vascular diseases are a leading cause of excess mortality, well above the risk associated with suicide. In this review, we explore comorbid medical disorders, highlighting evidence that bipolar disorder can be effectively conceptualized as a multi-systemic inflammatory disease. Methods We conducted a systematic PubMed search of all English-language articles recently published with bipolar disorder cross-referenced with the following terms: mortality and morbidity, cardio-vascular, diabetes, obesity, metabolic syndrome, inflammation, auto-antibody, retro-virus, stress, sleep and circadian rhythm. Results Evidence gathered so far suggests that the multi-system involvement is present from the early stages, and therefore requires proactive screening and diagnostic procedures, as well as comprehensive treatment to reduce progression and premature mortality. Exploring the biological pathways that could account for the observed link show that dysregulated inflammatory background could be a common factor underlying cardio-vascular and bipolar disorders. Viewing bipolar disorder as a multi-system disorder should help us to re-conceptualize disorders of the mind as “disorders of the brain and the body”. Limitations The current literature substantially lacks longitudinal and mechanistic studies, as well as comparison studies to explore the magnitude of the medical burden in bipolar disorder compared to major mood disorders as well as psychotic disorders. It is also necessary to look for subgroups of bipolar disorder based on their rates of comorbid disorders. Conclusions Comorbid medical illnesses in bipolar disorder might be viewed not only as the consequence of health behaviors and of psychotropic medications, but rather as an early manifestation of a multi-systemic disorder. Medical monitoring is thus a critical component of case assessment. Exploring common

  10. Discerning Primary and Secondary Factors Responsible for Clinical Fatigue in Multisystem Diseases

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    David Maughan

    2014-09-01

    Full Text Available Fatigue is a common symptom of numerous acute and chronic diseases, including myalgic encephalomyelitis/chronic fatigue syndrome, multiple sclerosis, heart failure, cancer, and many others. In these multi-system diseases the physiological determinants of enhanced fatigue encompass a combination of metabolic, neurological, and myofibrillar adaptations. Previous research studies have focused on adaptations specific to skeletal muscle and their role in fatigue. However, most have neglected the contribution of physical inactivity in assessing disease syndromes, which, through deconditioning, likely contributes to symptomatic fatigue. In this commentary, we briefly review disease-related muscle phenotypes in the context of whether they relate to the primary disease or whether they develop secondary to reduced physical activity. Knowledge of the etiology of the skeletal muscle adaptations in these conditions and their contribution to fatigue symptoms is important for understanding the utility of exercise rehabilitation as an intervention to alleviate the physiological precipitants of fatigue.

  11. Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction

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    Poll-The, B. T.; Saudubray, J. M.; Ogier, H.; Schutgens, R. B.; Wanders, R. J.; Schrakamp, G.; van den Bosch, H.; Trijbels, J. M.; Poulos, A.; Moser, H. W.

    1986-01-01

    Infantile Refsum's disease was diagnosed in three male patients, presenting with facial dysmorphia, retinitis pigmentosa, neurosensory hearing loss, hepatomegaly, osteopenia and delayed growth and psychomotor development. An elevated plasma phytanic acid concentration and a deficient phytanic acid

  12. Acute tubulointerstitial nephritis with severe renal impairment associated with multisystem IgG4-related disease

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    Rafael Coimbra Ferreira Beltrame

    Full Text Available Abstract The IgG4-related disease has a wide clinical spectrum where multiple organs can be affected, and the diagnosis depends on typical histopathological findings and an elevated IgG4 expression in plasma cells in the affected tissue. We describe the clinical presentation and evolution of a patient with acute tubulointerstitial nephritis, severe kidney failure and systemic manifestations such as lymphadenomegaly and chronic pancreatitis. The diagnosis was confirmed by the clinical picture and kidney and lymph node histopathology, in which immunohistochemistry of the lymphoid tissue showed policlonality and increased expression of IgG4, with a IgG4/total IgG ratio > 80%. The patient was treated with prednisone at a dose of 60 mg/day, followed by mycophenolate mofetil, and showed clinical and renal function improvement at 6 months of follow-up. The high index of suspicion of IgG4-related disease with multisystem involvement and the early treatment of this condition are essential to improve the prognosis of affected patients.

  13. Multisystem Disease, Including Eosinophilia and Progressive Hyper-Creatine-Kinase-emia over 10 Years, Suggests Mitochondrial Disorder

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    Josef Finsterer

    2017-04-01

    Full Text Available Background: Eosinophilia has not been reported as a manifestation of a mitochondrial disorder (MID. Here, we report a patient with clinical features suggesting a MID and permanent eosinophilia, multisystem disease, and progressive hyper-creatine-kinase (CK-emia for at least 10 years. Materials and Methods: Methods applied included a clinical exam, blood chemical investigations, electrophysiological investigations, imaging, and invasive cardiological investigations. The patient was repeatedly followed up over several years. He required replacement cardiac surgery. Results: In a 57-year-old male, eosinophilia was first detected at the age of 44 years and has remained almost constantly present until today. In addition to eosinophilia, he developed progressive hyper-CK-emia at the age of 47 years. His history was further positive for hepatopathy, hyperlipidemia, hypothyroidism, renal insufficiency, spontaneous Achilles tendon rupture, double vision, exercise intolerance, muscle aching, mild hypoacusis, sensory neuropathy, seizures, and mitral insufficiency/stenosis requiring valve replacement therapy, oral anticoagulation, and pacemaker implantation. Based on the multisystem nature of his abnormalities and permanent hyper-CK-emia, a MID was suspected. Conclusion: Eosinophilia can be associated with a MID with myopathy, possibly as a reaction to myofiber necrosis. If eosinophilia is associated with progressive hyper-CK-emia and multisystem disease, a MID should be suspected.

  14. Acute tubulointerstitial nephritis with severe renal impairment associated with multisystem IgG4-related disease.

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    Beltrame, Rafael Coimbra Ferreira; Friderichs, Maurício; Fior, Bárbara Rayanne; Schaefer, Pedro Guilherme; Thomé, Gustavo Gomes; Silva, Dirceu Reis da; Barros, Elvino José Guardão; Seligman, Renato; Veronese, Francisco Veríssimo

    2016-01-01

    The IgG4-related disease has a wide clinical spectrum where multiple organs can be affected, and the diagnosis depends on typical histopathological findings and an elevated IgG4 expression in plasma cells in the affected tissue. We describe the clinical presentation and evolution of a patient with acute tubulointerstitial nephritis, severe kidney failure and systemic manifestations such as lymphadenomegaly and chronic pancreatitis. The diagnosis was confirmed by the clinical picture and kidney and lymph node histopathology, in which immunohistochemistry of the lymphoid tissue showed policlonality and increased expression of IgG4, with a IgG4/total IgG ratio > 80%. The patient was treated with prednisone at a dose of 60 mg/day, followed by mycophenolate mofetil, and showed clinical and renal function improvement at 6 months of follow-up. The high index of suspicion of IgG4-related disease with multisystem involvement and the early treatment of this condition are essential to improve the prognosis of affected patients. Resumo A doença relacionada à IgG4 tem um espectro clínico amplo em que múltiplos órgãos podem ser afetados, e o diagnóstico depende de achados histopatológicos típicos e elevada expressão de IgG4 em plasmócitos no tecido afetado. Descrevemos o quadro clínico e a evolução de um paciente com nefrite túbulo-intersticial aguda, insuficiência renal grave e manifestações sistêmicas como linfoadenomegalias e pancreatite crônica. O diagnóstico foi confirmado pelas características clínicas e pela histopatologia renal e de linfonodo, na qual a imunohistoquímica mostrou tecido linfoide com policlonalidade e expressão aumentada de IgG4, com uma relação IgG4/IgG total > 80%. O paciente foi tratado com prednisona na dose de 60 mg/dia, seguido de micofenolato mofetil, e apresentou melhora clínica e da função renal depois de 6 meses de tratamento. O alto índice de suspeição da doença relacionada ao IgG4 com comprometimento multissist

  15. Similarities and differences between infantile and early childhood onset vanishing white matter disease.

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    Zhou, Ling; Zhang, Haihua; Chen, Na; Zhang, Zhongbin; Liu, Ming; Dai, Lifang; Wang, Jingmin; Jiang, Yuwu; Wu, Ye

    2018-06-01

    Vanishing white matter disease (VWM) is one of the most prevalent inherited leukoencephalopathies in childhood. Infantile VWM is more severe but less understood than the classic early childhood type. We performed a follow-up study on 14 infantile and 26 childhood patients to delineate the natural history and neuroimaging features of VWM. Infantile and childhood patients shared similarities in the incidence of epileptic seizure (35.7 vs. 38.5%) and episodic aggravation (92.9 vs. 84.6%). Developmental delay before disease onset was more common in infantile patients. Motor disability was earlier and more severe in infantile VWM. In survivors with disease durations of 1-3 years, the Gross Motor Function Classification System (GMFCS) was classified as IV-V in 66.7% of infantile and only 29.4% of childhood patients. Kaplan-Meier survival curve analysis indicated that the 5-year survival rates were 21.6 and 91.3% in infantile and childhood VWM, respectively. In terms of MRI, infantile patients showed more extensive involvement and earlier rarefaction, with more common involvement of subcortical white matter, internal capsule, brain stem and dentate nuclei of the cerebellum. Restricted diffusion was more diffuse or extensive in infantile patients. In addition, four novel mutations were identified. In conclusion, we identified some similarities and differences in the natural history and neuroimaging features between infantile and early childhood VWM.

  16. Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA

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    Elizabeth eMcCormick

    2015-06-01

    Full Text Available Desmin (DES is a major muscle scaffolding protein that also functions to anchor mitochondria. Pathogenic DES mutations, however, have not previously been recognized as a cause of multi-systemic mitochondrial disease. Here, we describe a 45-year-old man who presented to The Children’s Hospital of Philadelphia Mitochondrial-Genetics Diagnostic Clinic for evaluation of progressive cardiac, neuromuscular, gastrointestinal, and mood disorders. Muscle biopsy at age 45 was remarkable for cytoplasmic bodies, as well as ragged red fibers and SDH positive/COX negative fibers that were suggestive of a mitochondrial myopathy. Muscle also showed significant reductions in mitochondrial content (16% of control mean for citrate synthase activity and mitochondrial DNA (35% of control mean. His family history was significant for cardiac conduction defects and myopathy in multiple maternal relatives. Multiple single gene and panel-based sequencing studies were unrevealing. Whole exome sequencing identified a known pathogenic p.S13F mutation in DES that had previously been associated with desmin-related myopathy. Desmin-related myopathy is an autosomal dominant disorder characterized by right ventricular hypertrophic cardiomyopathy, myopathy, and arrhythmias. However, neuropathy, gastrointestinal dysfunction, and depletion of both mitochondria and mitochondrial DNA have not previously been widely recognized in this disorder. Recognition that mitochondrial dysfunction occurs in desmin-related myopathy clarifies the basis for the multi-systemic manifestations, as are typical of primary mitochondrial disorders. Understanding the mitochondrial pathophysiology of desmin-related myopathy highlights the possibility of new therapies for the otherwise untreatable and often fatal class of disease. We postulate that drug treatments aimed at improving mitochondrial biogenesis or reducing oxidative stress may be effective therapies to ameliorate the effects of desmin

  17. [An atypical presentation of Infantile Alexander disease lacking macrocephaly].

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    Esmer, Carmen; Villegas-Aguilera, Miguel; Morales-Ibarra, Juan José; Bravo-Oro, Antonio

    Alexander disease is a rare form of leukodystrophy that involves mainly astrocytes; it is inherited in an autosomal recessive manner and occurs by mutations in the GFAP gene, located on chromosome 17q21. It can occur at any age and its infantile form is characterized by macrocephaly, seizures, severe motor and cognitive delay, and progressive spasticity or ataxia. An 8-month-old female was evaluated with a history of neurodevelopmental delay and unprovoked focal motor seizures. Physical examination showed normal head circumference, increased motor responses to tactile and noise stimuli, pyramidal signs and no visceromegalies. Widespread hypodense white matter was found on magnetic resonance and lumbar puncture showed hyperproteinorrachia. Krabbe disease was ruled out by enzymatic assay and gene sequencing of GALC. In the reassessment of the case, abnormalities in neuroimaging lead to suspicion of Alexander disease, and GFAP gene sequencing reported a pathogenic mutation in exon 4 c.716G>A, which caused a change of arginine to histidine at position 239 of the protein (p.Arg239His). The radiographic signs observed in the resonance were decisive for the diagnosis, later confirmed by molecular study. It is important to consider that certain mutations are not associated with macrocephaly, which may cause delay in diagnosis. Copyright © 2016 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  18. Regional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease

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    A. Gupta

    2015-01-01

    Interpretation: Neonatal microstructural abnormalities correlate with neurodevelopmental treatment outcomes in patients treated for infantile Krabbe disease. DTI with quantitative tractography is an excellent biomarker for evaluating infants with Krabbe disease identified through newborn screening.

  19. Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy

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    Poll-The, B. T.; Saudubray, J. M.; Ogier, H. A.; Odièvre, M.; Scotto, J. M.; Monnens, L.; Govaerts, L. C.; Roels, F.; Cornelis, A.; Schutgens, R. B.

    1987-01-01

    Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly, failure to thrive and hypocholesterolaemia. Initially, only an accumulation of phytanic acid was thought to be present.

  20. Enzyme replacement therapy for infantile-onset Pompe disease.

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    Chen, Min; Zhang, Lingli; Quan, Shuyan

    2017-11-20

    Infantile-onset Pompe disease is a rare and progressive autosomal-recessive disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Current treatment involves enzyme replacement therapy (with recombinant human alglucosidase alfa) and symptomatic therapies (e.g. to control secretions). Children who are cross-reactive immunological material (CRIM)-negative require immunomodulation prior to commencing enzyme replacement therapy.Enzyme replacement therapy was developed as the most promising therapeutic approach for Pompe disease; however, the evidence is lacking, especially regarding the optimal dose and dose frequency. To assess the effectiveness, safety and appropriate dose regimen of enzyme replacement therapy for treating infantile-onset Pompe disease. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Inborn Errors of Metabolism Trials Register, which is compiled from electronic database searches and handsearching of journals and conference abstract books. We also searched the Cochrane Central Register of Controlled Trials (CENTRAL), Embase (Ovid), PubMed and LILACS, and CBM, CNKI, VIP, and WANFANG for literature published in Chinese. In addition, we searched three online registers: WHO International Clinical Trials Registry Platform ClinicalTrials.gov, and www.genzymeclinicalresearch.com. We also searched the reference lists of relevant articles and reviews.Date of last search of the Group's Inborn Errors of Metabolism Trials Register: 24 November 2016. Randomized and quasi-randomized controlled trials of enzyme replacement therapy in children with infantile-onset Pompe disease. Two authors independently selected relevant trials, assessed the risk of bias and extracted data. We contacted investigators to obtain important missing information. We found no trials comparing the effectiveness and safety of enzyme replacement therapy to another intervention, no intervention or placebo.We found one trial (18 participants

  1. ALGLUCOSIDASE ALFA — A NEW STAGE IN THE THERAPY OF INFANTILE POMPE DISEASE

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    E. N. Basargina

    2014-01-01

    Full Text Available Pompe disease is a rare severe hereditary disease caused by excessive glycogen storage in organs and target tissues due to the acid α-glucosidase gene mutation. Infantile and adult Pompe disease is characterized by involvement of cardiovascular, respiratory and muscular systems in the pathological process. The only specific method of treating Pompe disease is enzyme replacement therapy (intravenous administration of recombinant human acid glucosidase, the effectiveness whereof depends on the time the therapy started. Since such a therapy was introduced into practice, Pompe disease mortality decreased by 79%. 6 children with infantile Pompe disease were observed and treated at the cardiovascular care unit of the Scientific Center of Children’s Health in 2011‑2014. The article presents a clinical case demonstrating capabilities of diagnosing infantile Pompe disease in Russia and effective application of alglucosidase alfa in 4-month-old child. 

  2. Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe disease

    NARCIS (Netherlands)

    T.A. Kanters (Tim A.); I Hoogenboom-Plug (Iris); M.P.M.H. Rutten-van Mölken (Maureen); W.K. Redekop (Ken); A.T. van der Ploeg (Ans); L. van Hakkaart-van Roijen (Leona)

    2014-01-01

    textabstractBackground: Infantile Pompe disease is a rare metabolic disease. Patients generally do not survive the first year of life. Enzyme replacement therapy (ERT) has proven to have substantial effects on survival in infantile Pompe disease. However, the costs of therapy are very high. In this

  3. Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy.

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    Lai, Chih-Jou; Hsu, Ting-Rong; Yang, Chia-Feng; Chen, Shyi-Jou; Chuang, Ya-Chin; Niu, Dau-Ming

    2016-12-01

    Most patients with infantile-onset Pompe disease die in early infancy before beginning enzyme replacement therapy, which has made it difficult to evaluate the impact of Pompe disease on cognitive development. Patients with infantile-onset Pompe disease can survive with enzyme replacement therapy, and physicians can evaluate cognitive development in these patients. We established an effective newborn screening program with quick clinical diagnostic criteria. Cognitive and motor development were evaluated using the Bayley Scales of Infant and Toddler Development-Third Edition at 6, 12, and 24 months of age. The patients who were treated very early demonstrate normal cognitive development with no significant change in cognition during this period (P = .18 > .05). The cognitive development was positively correlated with motor development (r = 0.533, P = .011). The results indicated that very early enzyme replacement therapy could protect cognitive development in patients with infantile-onset Pompe disease up to 24 months of age. © The Author(s) 2016.

  4. The natural course of infantile Pompe's disease : 20 original cases compared with 133 cases from the literature

    NARCIS (Netherlands)

    van den Hout, HMP; Hop, W; van Diggelen, OP; Smeitink, JAM; Smit, GPA; Poll-The, BTT; Bakker, HD; Loonen, MCB; de Klerk, JBC; Reuser, AJJ; van der Ploeg, AT

    Objective. Infantile Pompe's disease is a lethal cardiac and muscular disorder. Current developments toward enzyme replacement therapy are promising. The aim of our study is to delineate the natural course of the disease to verify endpoints of clinical studies. Methods. A total of 20 infantile

  5. A Polytropic Caprine Arthritis Encephalitis Virus Promoter Isolated from Multiple Tissues from a Sheep with Multisystemic Lentivirus-Associated Inflammatory Disease

    Directory of Open Access Journals (Sweden)

    Brian Murphy

    2013-08-01

    Full Text Available Caprine arthritis encephalitis virus (CAEV is a lentivirus that infects both goats and sheep and is closely related to maedi-visna virus that infects sheep; collectively, these viruses are known as small ruminant lentiviruses (SRLV. Infection of goats and sheep with SRLV typically results in discrete inflammatory diseases which include arthritis, mastitis, pneumonia or encephalomyelitis. SRLV-infected animals concurrently demonstrating lentivirus-associated lesions in tissues of lung, mammary gland, joint synovium and the central nervous system are either very rare or have not been reported. Here we describe a novel CAEV promoter isolated from a sheep with multisystemic lentivirus-associated inflammatory disease including interstitial pneumonia, mastitis, polyarthritis and leukomyelitis. A single, novel SRLV promoter was cloned and sequenced from five different anatomical locations (brain stem, spinal cord, lung, mammary gland and carpal joint synovium, all of which demonstrated lesions characteristic of lentivirus associated inflammation. This SRLV promoter isolate was found to be closely related to CAEV promoters isolated from goats in northern California and other parts of the world. The promoter was denoted CAEV-ovine-MS (multisystemic disease; the stability of the transcription factor binding sites within the U3 promoter sequence are discussed.

  6. Autoimmune diseases in parents of children with infantile autism: a case-control study

    DEFF Research Database (Denmark)

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

    2007-01-01

    This register study compared the rates and types of autoimmune disease in the parents of 111 patients (82 males, 29 females; mean age at diagnosis 5y 5mo [SD 2y 6mo]) with infantile autism (IA) with a matched control group of parents of 330 children from the general population. All parents were...

  7. Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses.

    Science.gov (United States)

    Sima, Ni; Li, Rong; Huang, Wei; Xu, Miao; Beers, Jeanette; Zou, Jizhong; Titus, Steven; Ottinger, Elizabeth A; Marugan, Juan J; Xie, Xing; Zheng, Wei

    2018-04-10

    Infantile and late infantile neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases affecting the central nervous system (CNS). The infantile NCL (INCL) is caused by mutations in the PPT1 gene and late-infantile NCL (LINCL) is due to mutations in the TPP1 gene. Deficiency in PPT1 or TPP1 enzyme function results in lysosomal accumulation of pathological lipofuscin-like material in the patient cells. There is currently no small-molecular drug treatment for NCLs. We have generated induced pluripotent stem cells (iPSC) from three patient dermal fibroblast lines and further differentiated them into neural stem cells (NSCs). Using these new disease models, we evaluated the effect of δ-tocopherol (DT) and hydroxypropyl-β-cyclodextrin (HPBCD) with the enzyme replacement therapy as the control. Treatment with the relevant recombinant enzyme or DT significantly ameliorated the lipid accumulation and lysosomal enlargement in the disease cells. A combination therapy of δ-tocopherol and HPBCD further improved the effect compared to that of either drug used as a single therapy. The results demonstrate that these patient iPSC derived NCL NSCs are valid cell- based disease models with characteristic disease phenotypes that can be used for study of disease pathophysiology and drug development.

  8. Multisystem involvement in neuromyelitis optica

    Directory of Open Access Journals (Sweden)

    Megan M Langille

    2015-01-01

    Full Text Available We describe a case of pediatric neuromyelitis optica (NMO with muscle and lung involvement in addition to central nervous system disease. Our patient initially presented with features of area postrema syndrome, then subsequently with optic neuritis. The patient also had recurrent hyperCKemia that responded to corticosteroids. Finally, axillary and hilar adenopathy with pulmonary consolidation were noted as well and responded to immunomodulation. Our case highlights multisystem involvement in NMO including non-infectious pulmonary findings which have not been described in the pediatric population previously.

  9. IgG4-Related Sclerosing Disease, an Emerging Entity: A Review of a Multi-System Disease

    Science.gov (United States)

    Divatia, Mukul; Kim, Sun A

    2012-01-01

    Immunoglobulin G4-related systemic disease (IgG4-RSD) is a recently defined emerging entity characterized by a diffuse or mass forming inflammatory reaction rich in IgG4-positive plasma cells associated with fibrosclerosis and obliterative phlebitis. IgG4-RSD usually affects middle aged and elderly patients, with a male predominance. It is associated with an elevated serum titer of IgG4, which acts as a marker for this recently characterized entity. The prototype is IgG4-related sclerosing pancreatitis or autoimmune pancreatitis (AIP). Other common sites of involvement are the hepatobiliary tract, salivary gland, orbit, and lymph node, however practically any organ can be involved, including upper aerodigestive tract, lung, aorta, mediastinum, retroperitoneum, soft tissue, skin, central nervous system, breast, kidney, and prostate. Fever or constitutional symptoms usually do not comprise part of the clinical picture. Laboratory findings detected include raised serum globulin, IgG and IgG4. An association with autoantibody detection (such as antinuclear antibodies and rheumatoid factor) is seen in some cases. Steroid therapy comprises the mainstay of treatment. Disease progression with involvement of multiple organ-sites may be encountered in a subset of cases and may follow a relapsing-remitting course. The principal histopathologic findings in several extranodal sites include lymphoplasmacytic infiltration, lymphoid follicle formation, sclerosis and obliterative phlebitis, along with atrophy and destruction of tissues. Immunohistochemical staining shows increased IgG4+ cells in the involved tissues (>50 per high-power field, with IgG4/IgG ratio >40%). IgG4-RSD may potentially be rarely associated with the development of lymphoma and carcinoma. However, the nature and pathogenesis of IgG4-RSD are yet to be fully elucidated and provide immense scope for further studies. PMID:22187229

  10. Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation

    International Nuclear Information System (INIS)

    Beker-Acay, Mehtap; Elmas, Muhsin; Koken, Resit; Unlu, Ebru; Bukulmez, Aysegul

    2016-01-01

    Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency in which the ganglioside GM2 and other glycolipids accumulate intracellularly within lysosomes. This process results in progressive motor neuron manifestations, death from respiratory failure and infections in infantiles. This report presents a 22-month-old girl with infantile type Sandhoff disease that was hospitalized for generalized seizures and psychomotor retardation. She was diagnosed with a genetically proven novel mutation and by demonstrating it’s specific imaging findings. Determination of spesific changes in neuroimaging which are initial findings for GM2 gangliosidosis is important from the point of diagnosis and follow-up in infants suspected of having a neurodegenerative disease

  11. Substrate reduction therapy in the infantile form of Tay-Sachs disease.

    Science.gov (United States)

    Bembi, B; Marchetti, F; Guerci, V I; Ciana, G; Addobbati, R; Grasso, D; Barone, R; Cariati, R; Fernandez-Guillen, L; Butters, T; Pittis, M G

    2006-01-24

    Substrate reduction therapy (SRT) with miglustat has been proposed for treatment of some lysosomal storage disorders. Based on the positive experience in Gaucher disease and experimental data in Tay-Sachs (TSD) and Sandhoff animal models, the authors investigated the clinical efficacy of SRT in two patients with infantile TSD. SRT could not arrest the patients' neurologic deterioration. However, a significant drug concentration in CSF as well as macrocephaly prevention were observed.

  12. A longitudinal study of gastrointestinal diseases in individuals diagnosed with infantile autism as children

    DEFF Research Database (Denmark)

    Mouridsen, Svend-Erik; Rich, B; Isager, T

    2009-01-01

    Abstract Background A number of studies have indicated a link between gastrointestinal (GI) diseases and autism spectrum disorders. Method The objective of this study was to compare the prevalence and types of GI diseases in a clinical sample of 118 individuals diagnosed as children with infantile...... autism (IA) with GI diseases in 336 matched controls from the general population, based on data from the nationwide Danish National Hospital Register (DNHR). The average observation time was 30.3 years (SD 0.4) (range 27-30 years), and mean age at the end of the observation period was 42.7 years (SD 7...

  13. Infantile Sandhoff's disease | Sass | SA Journal of Radiology

    African Journals Online (AJOL)

    hexosaminidase A and B. The resultant accumulation of GM2 ganglioside within both grey matter nuclei and myelin sheaths of the white matter results in eventual severe neuronal dysfunction and neurodegeneration. Disease progression is rapid, resulting ...

  14. The m.3291T>C mt-tRNALeu(UUR) mutation is definitely pathogenic and causes multisystem mitochondrial disease

    Science.gov (United States)

    Yarham, John W.; Blakely, Emma L.; Alston, Charlotte L.; Roberts, Mark E.; Ealing, John; Pal, Piyali; Turnbull, Douglass M.; McFarland, Robert; Taylor, Robert W.

    2013-01-01

    Mitochondrial tRNA point mutations are important causes of human disease, and have been associated with a diverse range of clinical phenotypes. Definitively proving the pathogenicity of any given mt-tRNA mutation requires combined molecular, genetic and functional studies. Subsequent evaluation of the mutation using a pathogenicity scoring system is often very helpful in concluding whether or not the mutation is causing disease. Despite several independent reports linking the m.3291T>C mutation to disease in humans, albeit in association with several different phenotypes, its pathogenicity remains controversial. A lack of conclusive functional evidence and an over-emphasis on the poor evolutionary conservation of the affected nucleotide have contributed to this controversy. Here we describe an adult patient who presented with deafness and lipomas and evidence of mitochondrial abnormalities in his muscle biopsy, who harbours the m.3291T > C mutation, providing conclusive evidence of pathogenicity through analysis of mutation segregation with cytochrome c oxidase (COX) deficiency in single muscle fibres, underlining the importance of performing functional studies when assessing pathogenicity. PMID:23273904

  15. Diseases of the circulatory system among adult people diagnosed with infantile autism as children

    DEFF Research Database (Denmark)

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

    2016-01-01

    BACKGROUND: Research dealing with adult people with autism spectrum disorders (ASD) noticeably lags behind studies of children and young individuals with ASD. AIMS: The objective of this study was to compare the prevalence and types of diseases of the circulatory system in a clinical sample of 118...... adult people diagnosed with infantile autism (IA) as children with 336 sex and age matched controls from the general population. METHODS AND PROCEDURES: All participants were screened through the nationwide Danish National Hospital Register. The average observation time of both groups was 37.2 years...

  16. Retrospective, Single Center Study of Clinical, Paraclinical and Natural Course of Infantile-Onset Pompe Disease

    Directory of Open Access Journals (Sweden)

    Noormohammad Noori

    2015-01-01

    Full Text Available Background: Infantile-onset Pompe disease is a rare genetic and lethal disorder which is caused by the lack of acid alpha-glucosidase activity (GAA. The aim of our study was to identify the demographic and clinical characteristics, and natural history of these patients. Materials and Methods: In this retrospective study, clinical file of 15 patients diagnosed with infantile-onset Pompe disease whose symptoms started before the age of 12 months were studied. Diagnosis was based on clinical history, physical examination and diagnostic parameters in chest X-ray, echocardiogram, electrocardiogram and biochemical tests after rule out the other metabolic and neuromuscular disorders. Results: Sixty percent of the patients were male and 40% were female. The mean age at the onset of symptoms was 78 days (range: 3-150 days. Most frequent clinical and paraclinical symptoms were cardiomegaly, hypotonia, hyporeflexia, macroglossia, failure to thrive, hepatomegaly, and feeding problems, respectively. The mean age at the time of death was 5.96 months (range: 4-8 months, and all patients died before one year of age. Muscle enzymes including AST, ALT, LDH, and CPK were elevated in all patients. Due to the lack of availability, enzyme replacement therapy was not possible for any patient. Conclusion: The study showed that despite the supportive measures and no specific treatment, the clinical course is not significantly different with similar studies and the overall prognosis of this form of disease is very poor and disappointing.

  17. Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients

    Science.gov (United States)

    Aryan, H; Aryani, O; Banihashemi, K; Zaman, T; Houshmand, M

    2012-01-01

    Background Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency and accumulation of GM2 ganglioside resulting in progressive motor neuron manifestations and death from respiratory failure and infections in infantiles. Pathogenic mutations in HEXB gene were observed which leads to enzyme activity reduction and interruption of normal metabolic cycle of GM2 ganglioside in sandhoff patients. Methods: Six infantile index patients with typical biochemical and clinical picture of the disease were studied at the molecular level. After DNA extraction and amplification, probands and their parents, were evaluated by direct sequencing of amplicons. Results: We identified 7 different mutations among which 4 were novel. The most prevalent finding (50%) among our population was a 16 kb deletion including the promoter and exons 1–5. The other findings included c.1552delG and c.410G>A, c.362 A>G, c.550delT, c.1597C>T, c.1752delTG. Conclusion: We conclude that Cys137Tyr and R533C mutations may be pathogenic because of changing amino acid and locating at the conserved region and also they have not been observed in hundred controls. Besides, four mutations including: Cys137Tyr, c.1552delG, c.1597C>T and c.550delT fulfilled almost criteria for pathogenic mutation. PMID:23113155

  18. Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports

    Directory of Open Access Journals (Sweden)

    Vargiami E

    2016-06-01

    Full Text Available Krabbe disease is an autosomal recessive neurodegenerative disorder due to a defect of the lysosomal enzyme β-galactocerebrosidase (β-GALC. Depending on the age of onset, the disease is classified into infantile and later-onset forms. We report neuroradiological, neurophysiological and molecular findings in two Greek patients with the infantile form of Krabbe disease. The index patients presented at the age of 3.5 and 6 months, respectively, due to developmental delay. Magnetic resonance imaging (MRI of the first patient’s brain demonstrated signs of leukodystrophy, while nerve conduction velocities (NCVs were significantly decreased. The second patient’s MRI at the age of 4 months was initially normal, but at 18 months demonstrated leukodystrophic alterations as well, whereas NCVs were also significantly delayed. In both patients, a severe decrease in β-GALC, activity supported the diagnosis of Krabbe disease, while the final diagnosis was confirmed by molecular genetic testing. Two homozygous mutations of the GALC gene, the c.411_413delTAA [p.K139del] mutation in the first patient, and the c.749T>C [p.I250T] mutation in the second patient, were identified. At their last follow-up visit at the age of 4 and 6 years, respectively, both patients were bedridden and quadri-plegic, suffering from frequent respiratory tract infections and fed through a gastrostomy. Both mutations found in homozygosity in these two unrelated patients of Greek ancestry, could pinpoint a common origin. Genotyping of patients with Krabbe disease is important, in order to contribute to the creation of a European mutation database and to further study possible genotype-phenotype correlations of the disease.

  19. Effects of respiratory muscle training (RMT) in children with infantile-onset Pompe disease and respiratory muscle weakness.

    Science.gov (United States)

    Jones, Harrison N; Crisp, Kelly D; Moss, Tronda; Strollo, Katherine; Robey, Randy; Sank, Jeffrey; Canfield, Michelle; Case, Laura E; Mahler, Leslie; Kravitz, Richard M; Kishnani, Priya S

    2014-01-01

    Respiratory muscle weakness is a primary therapeutic challenge for patients with infantile Pompe disease. We previously described the clinical implementation of a respiratory muscle training (RMT) regimen in two adults with late-onset Pompe disease; both demonstrated marked increases in inspiratory and expiratory muscle strength in response to RMT. However, the use of RMT in pediatric survivors of infantile Pompe disease has not been previously reported. We report the effects of an intensive RMT program on maximum inspiratory pressure (MIP) and maximum expiratory pressure (MEP) using A-B-A (baseline-treatment-posttest) single subject experimental design in two pediatric survivors of infantile Pompe disease. Both subjects had persistent respiratory muscle weakness despite long-term treatment with alglucosidase alfa. Subject 1 demonstrated negligible to modest increases in MIP/MEP (6% increase in MIP, d=0.25; 19% increase in MEP, d=0.87), while Subject 2 demonstrated very large increases in MIP/MEP (45% increase in MIP, d=2.38; 81% increase in MEP, d=4.31). Following three-month RMT withdrawal, both subjects maintained these strength increases and demonstrated maximal MIP and MEP values at follow-up. Intensive RMT may be a beneficial treatment for respiratory muscle weakness in pediatric survivors of infantile Pompe disease.

  20. NOMID - a neonatal syndrome of multisystem inflammation

    Energy Technology Data Exchange (ETDEWEB)

    Torbiak, R.P.; Cockshott, W.P. (Chedoke-McMaster Hospitals, Hamilton, ON (Canada). Dept. of Radiology); Dent, P.B. (Chedoke-McMaster Hospitals, Hamilton, ON (Canada). Dept. of Pediatrics)

    1989-08-01

    Neonatal onset multisystem inflammatory disease is a rare disorder first described by Lorber in 1973. An additional 29 cases have been recorded. Two patients are described here, one with a 17 year follow-up. The typical features are a rash, fever, adenopathy, hepatosplenomegaly, and a severe, deforming arthropathy predominantly affecting large joints. The most striking feature is the onset in the neonatal period. Other associated features include inflammation, chronic meningitis, anemia, and persistent leukocytosis. Most, if not all, patients develop bizarre epiphyseal radiographic findings that are virtually pathognomonic. This disease is distinct from Still disease. (orig.).

  1. Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease

    NARCIS (Netherlands)

    Van Haaften-Visser, Désirée Y.; Harakalova, Magdalena; Mocholi, Enric; Van Montfrans, Joris M.; Elkadri, Abdul; Rieter, Ester; Fiedler, Karoline; Van Hasselt, Peter M.; Triffaux, Emily M.M.; Van Haelst, Mieke M.; Nijman, Isaac J.; Kloosterman, Wigard P.; Nieuwenhuis, Edward E S; Muise, Aleixo M.; Cuppen, Edwin; Houwen, Roderick H.J.; Coffer, Paul J.

    2017-01-01

    Infantile-onset inflammatory bowel disease (IO IBD) is an invalidating illness with an onset before 2 years of age and has a complex pathophysiology in which genetic factors are important. Homozygosity mapping and whole-exome sequencing in an IO IBD patient and subsequent sequencing of the candidate

  2. Epilepsy and Other Neurological Diseases in the Parents of Children with Infantile Autism. A Case Control Study

    Science.gov (United States)

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

    2008-01-01

    In order to study the broader phenotype of infantile autism (IA) we compared the rates and types of epilepsy and other neurological diseases in the parents of 111 consecutively admitted patients with IA with a matched control group of parents of 330 children from the general population. All participants were screened through the nationwide Danish…

  3. Infantile-onset Alexander disease: a genetically proven case with mild clinical course in a 6-year-old Indian boy

    NARCIS (Netherlands)

    Ramesh, Konanki; Sharma, Suvasini; Kumar, Atin; Salomons, Gajja S.; van der Knaap, Marjo S.; Gulati, Sheffali

    2013-01-01

    Alexander disease is an autosomal dominant leukoencephalopathy characterized by developmental delay, macrocephaly, and characteristic neuroimaging abnormalities predominantly involving frontal lobes. We report a 6-year-old Indian boy with infantile-onset Alexander disease, who has an unusually mild

  4. Thickening and enhancement of multiple cranial nerves in conjunction with cystic white matter lesions in early infantile Krabbe disease

    Energy Technology Data Exchange (ETDEWEB)

    Beslow, Lauren A.; Boennemann, Carsten G. [Children' s Hospital of Philadelphia, Division of Neurology, Philadelphia, PA (United States); Schwartz, Erin S. [Children' s Hospital of Philadelphia, Division of Neuroradiology, Philadelphia, PA (United States)

    2008-06-15

    We present serial MR findings in a child ultimately diagnosed with the early infantile form of Krabbe disease. MR showed typical features of Krabbe disease including cerebellar and brainstem hyperintensity, periventricular and deep white matter hyperintensity, and cerebral atrophy. In addition, the combination of both enlargement and enhancement of multiple cranial nerves in conjunction with unusual cystic lesions adjacent to the frontal horns of the lateral ventricles was previously unreported and expands the spectrum of imaging findings in early Krabbe disease. (orig.)

  5. Cost of post-weaning multi-systemic wasting syndrome and porcine circovirus type-2 subclinical infection in England - an economic disease model.

    Science.gov (United States)

    Alarcon, Pablo; Rushton, Jonathan; Wieland, Barbara

    2013-06-01

    Post-weaning multi-systemic wasting syndrome (PMWS) is a multi-factorial disease with major economic implications for the pig industry worldwide. The present study aimed to assess the economic impact of PMWS and porcine circovirus type 2 (PCV2) subclinical infections (PCV2SI) for farrow-to-finish farms and to estimate the resulting cost to the English pig industry. A disease model was built to simulate the varying proportions of pigs in a batch that get infected with PCV2 and develop either PMWS, subclinical disease (reduce growth without evident clinical signs) or remain healthy (normal growth and no clinical signs), depending on the farm level PMWS severity. This PMWS severity measure accounted for the level of post-weaning mortality, PMWS morbidity and proportion of PCV2 infected pigs observed on farms. The model generated six outcomes: infected pigs with PMWS that die (PMWS-D); infected pigs with PMWS that recover (PMWS-R); subclinical pigs that die (Sub-D); subclinical pigs that reach slaughter age (Sub-S); healthy pigs sold (H-S); and pigs, infected or non-infected by PCV2, that die due to non-PCV2 related causes (nonPCV2-D). Enterprise and partial budget analyses were used to assess the deficit/profits and the extra costs/extra benefits of a change in disease status, respectively. Results from the economic analysis at pig level were combined with the disease model's estimates of the proportion of different pigs produced at different severity scores to assess the cost of PMWS and subclinical disease at farm level, and these were then extrapolated to estimate costs at national level. The net profit for a H-S pig was £19.2. The mean loss for a PMWS-D pig was £84.1 (90% CI: 79.6-89.1), £24.5 (90% CI: 15.1-35.4) for a PMWS-R pig, £82.3 (90% CI: 78.1-87.5) for a Sub-D pig, and £8.1 (90% CI: 2.18-15.1) for a Sub-S pig. At farm level, the greatest proportion of negative economic impact was attributed to PCV2 subclinical pigs. The economic impact for the English

  6. AB073. Classic infantile-onset Pompe disease: phenotypes and outcomes of 5 Vietnamese patients receiving enzyme replacement therapy

    Science.gov (United States)

    Nguyen, Khanh Ngoc; Do, Mai Thi Thanh; Can, Ngoc Thi Bich; Hwu, Wuh-Liang; Vu, Dung Chi

    2017-01-01

    Background Pompe disease (PD) or glycogen storage disease type II is a lysosomal storage disorder, caused by mutations of GAA gene which results in deficiency of acid alpha-glucosidase (GAA) enzyme that involves in metabolism of glycogen in the lysosomes. Its incidence is 1/14,000–1/100,000. PD is divided into three types: classic infantile onset, non-classic infantile onset, and late onset. Early enzyme replacement therapy (ERT) before developing respiratory distress may lead to good outcome. Since 2013, we have identified 16 cases with classic infantile-onset and 5 cases were treated with ERT. Herein, we describe phenotypes and outcomes of five infantile-onset PD patients who received ERT. Methods GAA enzyme assay was done at National Taiwan University Hospital. Results Ages of diagnosis were 12, 38 and 70 days, 5 and 9 months of age. Clinical presentations included macroglossia (5/5), hypertrophic cardiomyopathy (5/5), failure to thrive (5/5), facial weakness and hypotonia (3 patients diagnosed after 70 days of age), respiratory failure (1 patient diagnosed at 9 months of age). All patients had mildly elevated plasma CK (270–380 UI/L) and transaminase (60–260 UI/l). Ages at starting ERT were 28 and 58 days, 3, 6 and 10 months. The time intervals from diagnosis to starting ERT were between 14 days and 1 month. The durations of ERT were 4–22 months. The outcomes were good. All patients had improvement of cardiac functions shown on echocardiography, respiratory status, and motor development. The patient who first received ERT at 10 months of age was reportedly dead at home due to food obstruction at 18 months of age. Current ages of the survivors were 5–24 months. Conclusions Patients with classic infantile-onset PD will have good outcomes if ERT is started early. Newborn screening for this disease is necessary to yield an early diagnosis.

  7. Reproduction of post-weaning multi-systemic wasting syndrome in an animal disease model as a tool for vaccine testing under controlled conditions.

    Science.gov (United States)

    McKillen, John; McNair, Irene; Lagan, Paula; McKay, Karen; McClintock, Julie; Casement, Veronica; Charreyre, Catherine; Allan, Gordon

    2016-04-01

    Snatch farrowed, colostrum deprived piglets were inoculated with different combinations of porcine circovirus 2, porcine parvovirus and Erysipelothrix rhusiopathiae candidate vaccines. 10 piglets were mock-vaccinated. Following virus challenge with a combined porcine circovirus 2/porcine parvovirus inoculum, all animals were monitored and samples taken for serology, immunohistochemistry and qPCR. At 24 dpc all non-vaccinated animals remaining were exhibiting signs of post-weaning multi-systemic wasting syndrome which was confirmed by laboratory analysis. Details of the study, analysis of samples and performance of the candidate vaccines are described. Copyright © 2016 Elsevier Ltd. All rights reserved.

  8. Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype Correlation

    Science.gov (United States)

    Rodriguez, Diana; Gauthier, Fernande; Bertini, Enrico; Bugiani, Marianna; Brenner, Michael; N'guyen, Sylvie; Goizet, Cyril; Gelot, Antoinette; Surtees, Robert; Pedespan, Jean-Michel; Hernandorena, Xavier; Troncoso, Monica; Uziel, Graziela; Messing, Albee; Ponsot, Gérard; Pham-Dinh, Danielle; Dautigny, André; Boespflug-Tanguy, Odile

    2001-01-01

    Heterozygous, de novo mutations in the glial fibrillary acidic protein (GFAP) gene have recently been reported in 12 patients affected by neuropathologically proved Alexander disease. We searched for GFAP mutations in a series of patients who had heterogeneous clinical symptoms but were candidates for Alexander disease on the basis of suggestive neuroimaging abnormalities. Missense, heterozygous, de novo GFAP mutations were found in exons 1 or 4 for 14 of the 15 patients analyzed, including patients without macrocephaly. Nine patients carried arginine mutations (four had R79H; four had R239C; and one had R239H) that have been described elsewhere, whereas the other five had one of four novel mutations, of which two affect arginine (2R88C and 1R88S) and two affect nonarginine residues (1L76F and 1N77Y). All mutations were located in the rod domain of GFAP, and there is a correlation between clinical severity and the affected amino acid. These results confirm that GFAP mutations are a reliable molecular marker for the diagnosis of infantile Alexander disease, and they also form a basis for the recommendation of GFAP analysis for prenatal diagnosis to detect potential cases of germinal mosaicism. PMID:11567214

  9. Epilepsy and other neurological diseases in the parents of children with infantile autism. A case control study

    DEFF Research Database (Denmark)

    Mouridsen, S.E.; Rich, B.; Isager, T.

    2008-01-01

    In order to study the broader phenotype of infantile autism (IA) we compared the rates and types of epilepsy and other neurological diseases in the parents of 111 consecutively admitted patients with IA with a matched control group of parents of 330 children from the general population. All parti...... fathers the proportion was 5.7% vs 9.7%. No single neurological disease was significantly more frequent among parents of persons with IA. Our study lent support to the notion that epilepsy and other neurological diseases are not part of the broader IA phenotype Udgivelsesdato: 2008/3...

  10. Genetisk udredning ved infantile spasmer

    DEFF Research Database (Denmark)

    Hansen, Lars Kjærsgaard; Ousager, Lilian Bomme; Møller, Rikke Steensbjerre

    2012-01-01

    Infantile spasms are a symptom of a severe epileptic encephalopathy. It is important to determine the aetiology for a child's disease. When a standard programme for evaluating the aetiology of the infantile spasms is unsuccessful genetic causes should be considered. We suggest array CGH as the fi......Infantile spasms are a symptom of a severe epileptic encephalopathy. It is important to determine the aetiology for a child's disease. When a standard programme for evaluating the aetiology of the infantile spasms is unsuccessful genetic causes should be considered. We suggest array CGH...

  11. The presence of two different infantile Tay-Sachs disease mutations in a Cajun population

    Energy Technology Data Exchange (ETDEWEB)

    McDowell, G.A.; Blitzer, M.G. (Univ. of Maryland School of Medicine, Baltimore, MD (United States)); Mules, E.H. (Kennedy Krieger Institute, Baltimore, MD (United States)); Fabacher, P. (Office of Public Health, Shreveport, LA (United States)); Shapira, E. (Tulane Univ. of School of Medicine, New Orleans, LA (United States))

    1992-11-01

    A study was undertaken to characterize the mutation(s) responsible for Tay-Sachs disease (TSD) in a Cajun population in southwest Louisiana and to identify the origins of these mutations. Eleven of 12 infantile TSD alleles examined in six families had the [beta]-hexosaminidase A (Hex A) [alpha]-subunit exon 11 insertion mutation that is present in approximately 70% of Ashkenazi Jewish TSD heterozygotes. The mutation in the remaining allele was a single-base transition in the donor splice site of the [alpha]-subunit intron 9. To determine the origins of these two mutations in the Cajun population, the TSD carrier status was enzymatically determined for 90 members of four of the six families, and extensive pedigrees were constructed for all carriers. A single ancestral couple from France was found to be common to most of the carriers of the exon 11 insertion. Pedigree data suggest that this mutation has been in the Cajun population since its founding over 2 centuries ago and that it may be widely distributed within the population. In contrast, the intron 9 mutation apparently was introduced within the last century and probably is limited to a few Louisiana families. 29 refs., 4 figs.

  12. The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients

    Directory of Open Access Journals (Sweden)

    Zuhair N. Al-Hassnan

    2018-06-01

    Full Text Available Infantile-Onset Pompe Disease (IOPD is an autosomal recessive disorder of glycogen metabolism resulting from deficiency of the lysosomal hydrolase acid α-glucosidase encoded by GAA gene. Affected infants present before the age of 12 months with hypotonia, muscle weakness, and hypertrophic cardiomyopathy. Enzyme replacement therapy (ERT has been shown to improve survival, cardiac mass, and motor skills. In this work, we aim to illustrate the genotypes of IOPD and the outcome of ERT in our population. The medical records of infants with confirmed diagnosis of IOPD who received ERT were reviewed. Eighteen infants (7 males, 11 females were included in the study. The median age at presentation was 2 months and the median age at the start of ERT was 4.5 months. Fifteen (83.3% infants died with a median age at death of 12 months. The 3 alive infants (whose current ages are 6½ years, 6 years, and 10 years, who were initiated on ERT at the age of 3 weeks, 5 months, and 8 months respectively, has had variable response with requirement of assisted ventilation in one child and tracheostomy in another child. All infants were homozygous for GAA mutations except one infant who was compound heterozygous. All infants (n = 8 with truncating mutations died. Our work provides insight into the correlation of genotypes and outcome of ERT in IOPD in Saudi Arabia. Our data suggest that early detection of cases, through newborn screening, and immunomodulation before the initiation of ERT may improve the outcome of ERT in Saudi infants with IOPD. Keywords: Pompe disease, Glycogen storage disease type II, Enzyme replacement therapy, GAA

  13. Selected testosterone-related diseases in women who have given birth to a child with infantile autism

    DEFF Research Database (Denmark)

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

    2009-01-01

    AIM: The objective of the current study was to compare the prevalence of three testosterone-related cancer diseases in the mothers of 111 individuals diagnosed as children with infantile autism (IA) with a matched comparison group of mothers of 330 children from the general population. METHOD: Al.......5%. In addition, no single cancer disease was significantly more frequent among mothers of children with IA. CONCLUSION: Our study provides no support for an (eventually androgen-mediated) increased rate of cancer in mothers of persons with IA....

  14. W/M serrated osteotomy for infantile Blount's disease in Ghana ...

    African Journals Online (AJOL)

    2015-10-30

    Oct 30, 2015 ... surgical treatment is well suited for developing countries. This study describes .... with infantile Blount's are included for analysis. In this study, we are ... To increase the stability of the osteotomy, the teeth had to be pointed (at ...

  15. Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.

    Science.gov (United States)

    Haghighi, Alireza; Rezazadeh, Jamileh; Shadmehri, Azam Ahmadi; Haghighi, Amirreza; Kornreich, Ruth; Desnick, Robert J

    2011-09-01

    The β-hexosaminidase A (HEXA) mutations in the first reported cases of infantile Tay-Sachs disease in the Persian population were identified in two unrelated consanguineous families. The clinical diagnoses of the affected infants were confirmed by their markedly deficient levels of HEXA activity in plasma or peripheral leukocytes. The specific causative mutation in each family was determined by sequencing the HEXA alleles in both sets of related parents. Two mutations were identified: c.1A>G (p.MIV), which obliterated the initiating methionine in codon 1, and c.1177C>T (p.R393X), which predicted a termination codon or nonsense mutation.

  16. Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state

    OpenAIRE

    Matsuoka, Takashi; Miwa, Yoshiyuki; Tajika, Makiko; Sawada, Madoka; Fujimaki, Koichiro; Soga, Takashi; Tomita, Hideshi; Uemura, Shigeru; Nishino, Ichizo; Fukuda, Tokiko; Sugie, Hideo; Kosuga, Motomichi; Okuyama, Torayuki; Umeda, Yoh

    2016-01-01

    Pompe disease is an autosomal recessive, lysosomal glycogen storage disease caused by acid ?-glucosidase deficiency. Infantile-onset Pompe disease (IOPD) is the most severe form and is characterized by cardiomyopathy, respiratory distress, hepatomegaly, and skeletal muscle weakness. Untreated, IOPD generally results in death within the first year of life. Enzyme replacement therapy (ERT) with recombinant human acid alpha glucosidase (rhGAA) has been shown to markedly improve the life expectan...

  17. Prevalence of the Novel Torque Teno Sus Virus Species k2b from Pigs in the United States and Lack of Association with Post-Weaning Multisystemic Wasting Syndrome or Mulberry Heart Disease.

    Science.gov (United States)

    Rogers, A J; Huang, Y-W; Heffron, C L; Opriessnig, T; Patterson, A R; Meng, X-J

    2017-12-01

    The family Anelloviridae includes a number of viruses infecting humans (Torque teno viruses, TTV) and other animals including swine (Torque teno sus viruses, TTSuV). Two genetically distinct TTSuV species have been identified from swine thus far (TTSuV1 and TTSuVk2), although their definitive association with disease remains debatable. In 2012, a novel TTSuV species was identified from commercial swine serum and classified in the genus Kappatorquevirus as TTSuVk2b. The other Kappatorquevirus species, TTSuVk2a, has been associated with post-weaning multisystemic wasting syndrome (PMWS) when coinfected with porcine circovirus type 2 (PCV2). Therefore, in this study, we initially amplified a portion of TTSuVk2b ORF1 and, subsequently, assessed the molecular prevalence of the virus in pigs in the United States. A total of 127 serum and 115 tissue samples were obtained from pigs with PMWS or mulberry heart disease (MHD) in six states and tested by PCR for the presence of TTSuVk2b DNA. Approximately 27.6% of the serum and 21.7% of tissue samples tested positive for TTSuVk2b DNA, and the positive products were confirmed by sequencing. However, we did not detect a correlation between TTSuVk2b infection and PMWS or MHD. The near full-length genomic sequence of US TTSuVk2b was determined, and sequence analysis revealed that the US TTSuVk2b isolates were 95% identical to the TTSuVk2b isolate from Spain, with most of the variations clustering in ORF1. We conclude that the novel TTSuVk2b species is present in pigs in the United States and its potential association with a disease warrants further investigation. © 2016 Blackwell Verlag GmbH.

  18. Infantile sexuality

    DEFF Research Database (Denmark)

    Zeuthen, Katrine Egede; Gammelgård, Judy

    2010-01-01

    When first presented, Freud´s theory of infantile sexuality was a scandal. Not only was the claim that the small child sucking at the mother´s breast experiences a kind of pleasure that Freud without hesitation named sexual, the theory also turned the common understanding of human sexuality up-si...

  19. Novel exonic mutation inducing aberrant splicing in the IL10RA gene and resulting in infantile-onset inflammatory bowel disease: a case report.

    Science.gov (United States)

    Yanagi, Tadahiro; Mizuochi, Tatsuki; Takaki, Yugo; Eda, Keisuke; Mitsuyama, Keiichi; Ishimura, Masataka; Takada, Hidetoshi; Shouval, Dror S; Griffith, Alexandra E; Snapper, Scott B; Yamashita, Yushiro; Yamamoto, Ken

    2016-01-28

    Although deleterious mutations in interleukin-10 and its receptor molecules cause severe infantile-onset inflammatory bowel disease, there are no reports of mutations affecting this signaling pathway in Japanese patients. Here we report a novel exonic mutation in the IL10RA gene that caused unique splicing aberrations in a Japanese patient with infantile-onset of inflammatory bowel disease in association with immune thrombocytopenic purpura and a transient clinical syndrome mimicking juvenile myelomonocytic leukemia. A Japanese boy, who was the first child of non-consanguineous healthy parents, developed bloody diarrhea, perianal fistula, and folliculitis in early infancy and was diagnosed with inflammatory bowel disease. He also developed immune thrombocytopenic purpura and transient features mimicking juvenile myelomonocytic leukemia. The patient failed to respond to various treatments, including elemental diet, salazosulfapyridine, metronidazole, corticosteroid, infliximab, and adalimumab. We identified a novel mutation (c.537G > A, p.T179T) in exon 4 of the IL10RA gene causing unique splicing aberrations and resulting in lack of signaling through the interleukin-10 receptor. At 21 months of age, the patient underwent allogeneic hematopoietic stem cell transplantation and achieved clinical remission. We describe a novel exonic mutation in the IL10RA gene resulting in infantile-onset inflammatory bowel disease. This mutation might also be involved in his early-onset hematologic disorders. Physicians should be familiar with the clinical phenotype of IL-10 signaling defects in order to enable prompt diagnosis at an early age and referral for allogeneic hematopoietic stem cell transplantation.

  20. INFANTILE HAEMANGIOMA

    Directory of Open Access Journals (Sweden)

    Maria Armanda Passas

    2016-06-01

    Full Text Available Infantile hemangiomas are the most common softtissue tumors of infancy, occurring in approximately 3 to 10 percent of one-year-old children, with predominance in females. Despite the frequency of these tumors, their pathogenesis is not completely understood, and the best approach to their management remains controversial. They have a well-described natural history of rapid growth during early infancy followed by gradual involution, often leading to complete regression. Because of their spontaneous involution, most infantile hemangiomas do not require therapeutic intervention. However, in 10 to 15 % of cases, treatment is necessary because of local complications, life or physiological functioning is threatened or the long-term esthetic risk is too high.

  1. A case of multisystem endometriosis.

    Science.gov (United States)

    Athwal, Pardeep; Patel, Krishna; Hassani, Cameron; Bahadori, Shapour; Nardi, Peter

    2013-10-01

    Catamenial pneumothorax is a rare complication secondary to pleural endometriosis. We present a case of a 37-year-old-female with a history of recurrent pneumothoraces with an associated temporal relationship to the onset of her menses. In addition to her recurrent pneumothoraces, on further evaluation, she was found to have multiple nodular masses within the omentum. A thoracoscopic biopsy was subsequently performed, which showed endometrial implants within the pleural space and within the omental cavity. The radiological features and pathogenesis of this rare disease are reviewed and discussed with reference to relevant literature.

  2. Differences between pediatric and adult celiac disease Diferencias entre la enfermedad celiaca infantil y del adulto

    OpenAIRE

    Luis Rodrigo Sáez; D. Fuentes Álvarez; I. Pérez Martínez; N. Álvarez Mieres; P. Niño García; R. de Francisco García; S. Riestra Menéndez; C. Bousoño García; R. Alonso Arias; A. López Vázquez

    2011-01-01

    Introduction: celiac disease (CD) is a common autoimmune condition (involves 1-2% of the general population) that develops at any age in life but manifests differently in children and adults. Objectives: to analyze clinical differences in disease expression between both groups, as well as findings at the time of diagnosis. Methods: a retrospective study of a series of patients diagnosed with CD during childhood ( 14 years). Results: a total of 1...

  3. Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy.

    Science.gov (United States)

    van Gelder, C M; van Capelle, C I; Ebbink, B J; Moor-van Nugteren, I; van den Hout, J M P; Hakkesteegt, M M; van Doorn, P A; de Coo, I F M; Reuser, A J J; de Gier, H H W; van der Ploeg, A T

    2012-05-01

    Classic infantile Pompe disease is an inherited generalized glycogen storage disorder caused by deficiency of lysosomal acid α-glucosidase. If left untreated, patients die before one year of age. Although enzyme-replacement therapy (ERT) has significantly prolonged lifespan, it has also revealed new aspects of the disease. For up to 11 years, we investigated the frequency and consequences of facial-muscle weakness, speech disorders and dysphagia in long-term survivors. Sequential photographs were used to determine the timing and severity of facial-muscle weakness. Using standardized articulation tests and fibreoptic endoscopic evaluation of swallowing, we investigated speech and swallowing function in a subset of patients. This study included 11 patients with classic infantile Pompe disease. Median age at the start of ERT was 2.4 months (range 0.1-8.3 months), and median age at the end of the study was 4.3 years (range 7.7 months -12.2 years). All patients developed facial-muscle weakness before the age of 15 months. Speech was studied in four patients. Articulation was disordered, with hypernasal resonance and reduced speech intelligibility in all four. Swallowing function was studied in six patients, the most important findings being ineffective swallowing with residues of food (5/6), penetration or aspiration (3/6), and reduced pharyngeal and/or laryngeal sensibility (2/6). We conclude that facial-muscle weakness, speech disorders and dysphagia are common in long-term survivors receiving ERT for classic infantile Pompe disease. To improve speech and reduce the risk for aspiration, early treatment by a speech therapist and regular swallowing assessments are recommended.

  4. Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.

    Science.gov (United States)

    Parini, Rossella; De Lorenzo, Paola; Dardis, Andrea; Burlina, Alberto; Cassio, Alessandra; Cavarzere, Paolo; Concolino, Daniela; Della Casa, Roberto; Deodato, Federica; Donati, Maria Alice; Fiumara, Agata; Gasperini, Serena; Menni, Francesca; Pagliardini, Veronica; Sacchini, Michele; Spada, Marco; Taurisano, Roberta; Valsecchi, Maria Grazia; Di Rocco, Maja; Bembi, Bruno

    2018-02-08

    Enzyme replacement therapy (ERT) has deeply modified the clinical history of Infantile Onset Pompe Disease (IOPD). However, its long-term effectiveness is still not completely defined. Available data shows a close relationship between clinical outcome and patients' cross-reactive immunological status (CRIM), being CRIM-negative status a negative prognostic factor. At the same time limited data are available on the long-term treatment in CRIM-positive infants. A retrospective multicentre observational study was designed to analyse the long-term effectiveness of ERT in IOPD. Thirteen Italian centres spread throughout the country were involved and a cohort of 28 patients (15 females, 13 males, born in the period: February 2002-January 2013) was enrolled. IOPD diagnosis was based on clinical symptoms, enzymatic and molecular analysis. All patients received ERT within the first year of life. Clinical, laboratory, and functional data (motor, cardiac and respiratory) were collected and followed for a median period of 71 months (5 years 11 months). Median age at onset, diagnosis and start of ERT were 2, 3 and 4 months, respectively. CRIM status was available for 24/28 patients: 17/24 (71%) were CRIM-positive. Nineteen patients (67%) survived > 2 years: 4 were CRIM-negative, 14 CRIM-positive and one unknown. Six patients (5 CRIM-positive and one unknown) never needed ventilation support (21,4%) and seven (6 CRIM-positive and one unknown: 25%) developed independent ambulation although one subsequently lost this function. Brain imaging study was performed in 6 patients and showed peri-ventricular white matter abnormalities in all of them. Clinical follow-up confirmed the better prognosis for CRIM-positive patients, though a slow, progressive worsening of motor and/or respiratory functions was detected in 8 patients. These data are the result of the longest independent retrospective study on ERT in IOPD reported so far outside clinical trials. The data obtained

  5. Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease.

    Science.gov (United States)

    Zeng, Yin-Ting; Hwu, Wuh-Liang; Torng, Pao-Chuan; Lee, Ni-Chung; Shieh, Jeng-Yi; Lu, Lu; Chien, Yin-Hsiu

    2017-05-01

    Patients with infantile-onset Pompe disease (IOPD) can be treated by recombinant human acid alpha glucosidase (rhGAA) replacement beginning at birth with excellent survival rates, but they still commonly present with speech disorders. This study investigated the progress of speech disorders in these early-treated patients and ascertained the relationship with treatments. Speech disorders, including hypernasal resonance, articulation disorders, and speech intelligibility, were scored by speech-language pathologists using auditory perception in seven early-treated patients over a period of 6 years. Statistical analysis of the first and last evaluations of the patients was performed with the Wilcoxon signed-rank test. A total of 29 speech samples were analyzed. All the patients suffered from hypernasality, articulation disorder, and impairment in speech intelligibility at the age of 3 years. The conditions were stable, and 2 patients developed normal or near normal speech during follow-up. Speech therapy and a high dose of rhGAA appeared to improve articulation in 6 of the 7 patients (86%, p = 0.028) by decreasing the omission of consonants, which consequently increased speech intelligibility (p = 0.041). Severity of hypernasality greatly reduced only in 2 patients (29%, p = 0.131). Speech disorders were common even in early and successfully treated patients with IOPD; however, aggressive speech therapy and high-dose rhGAA could improve their speech disorders. Copyright © 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  6. Infantile colic

    Directory of Open Access Journals (Sweden)

    Aleksandra Rurarz

    2016-12-01

    Full Text Available Infantile colic is one of the most common functional gastrointestinal disorders in infants, usually occurring between 2 weeks to 4 months of age. According to the definition, infantile colic is characterised by episodes of inconsolable crying, generally observed in the evening. Although these symptoms usually resolve spontaneously in the first six months of life, they often cause parental anxiety, leading to repeated medical appointments in search for help. Despite 40 years of research, the causes of this disorder are still unclear; hypersensitivity to cow’s milk protein, lactose intolerance, impaired gut microbiota, immaturity of the nervous system, the negative impact of tobacco smoke, inappropriate childcare techniques and psychosocial factors are believed to be involved in the pathogenesis. The treatment involves behavioural methods, i.e. reducing infant exposure to external stimuli. Breastfeeding mothers are advised to eliminate caffeine and hot spices from their diet and, in some cases, switch to a dairy-free diet. For formula-fed infants, it is recommended to use hydrolysates with a high degree of hydrolysis. Simethicone is commonly used in the pharmacological treatment as it reduces the surface tension of intestinal gases, enabling their easier elimination. The Rome III Diagnostic Criteria recommend to appropriately continue any method if considered effective by the parents, provided that there are no harmful consequences.

  7. Amyotrophic Lateral Sclerosis, a Multisystem Pathology: Insights into the Role of TNFα

    NARCIS (Netherlands)

    Tortarolo, Massimo; Lo Coco, Daniele; Veglianese, Pietro; Vallarola, Antonio; Giordana, Maria Teresa; Marcon, Gabriella; Beghi, Ettore; Poloni, Marco; Strong, Michael J.; Iyer, Anand M.; Aronica, Eleonora; Bendotti, Caterina

    2017-01-01

    Amyotrophic lateral sclerosis (ALS) is considered a multifactorial, multisystem disease in which inflammation and the immune system play important roles in development and progression. The pleiotropic cytokine TNFα is one of the major players governing the inflammation in the central nervous system

  8. NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina

    NARCIS (Netherlands)

    Segarra, Nuria Garcia; Ballhausen, Diana; Crawford, Heather; Perreau, Matthieu; Campos-Xavier, Belinda; van Spaendonck-Zwarts, Karin; Vermeer, Cees; Russo, Michel; Zambelli, Pierre-Yves; Stevenson, Brian; Royer-Bertrand, Beryl; Rivolta, Carlo; Candotti, Fabio; Unger, Sheila; Munier, Francis L.; Superti-Furga, Andrea; Bonafé, Luisa

    2015-01-01

    We report two unrelated patients with a multisystem disease involving liver, eye, immune system, connective tissue, and bone, caused by biallelic mutations in the neuroblastoma amplified sequence (NBAS) gene. Both presented as infants with recurrent episodes triggered by fever with vomiting,

  9. A longitudinal study of epilepsy and other central nervous system diseases in individuals with and without a history of infantile autism

    DEFF Research Database (Denmark)

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

    2011-01-01

    the nationwide Danish National Hospital Register (DNHR). The average observation time was 30.3years (range 27-30years), and mean age at follow-up was 42.7years (range 27-57years). Results: Of the 118 individuals with IA, 29 (24.6%) were registered with at least one epilepsy diagnosis against 5 (1......Objective: To compare the prevalence and types of epilepsy and other central nervous system (CNS) diseases in a clinical sample of 118 individuals diagnosed as children with infantile autism (IA) with 336 matched controls from the general population. Methods: All participants were screened through...

  10. Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.

    Science.gov (United States)

    Jacobsen, Jessie C; Wilson, Callum; Cunningham, Vicki; Glamuzina, Emma; Prosser, Debra O; Love, Donald R; Burgess, Trent; Taylor, Juliet; Swan, Brendan; Hill, Rosamund; Robertson, Stephen P; Snell, Russell G; Lehnert, Klaus

    2016-03-01

    Two male siblings from a consanguineous union presented in early infancy with marked truncal hypotonia, a general paucity of movement, extrapyramidal signs and cognitive delay. By mid-childhood they had made little developmental progress and remained severely hypotonic and bradykinetic. They developed epilepsy and had problems with autonomic dysfunction and oculogyric crises. They had a number of orthopaedic problems secondary to their hypotonia. Cerebrospinal fluid (CSF) neurotransmitters were initially normal, apart from mildly elevated 5-hydroxyindolacetic acid, and the children did not respond favourably to a trial of levodopa-carbidopa. The youngest died from respiratory complications at 10 years of age. Repeat CSF neurotransmitters in the older sibling at eight years of age showed slightly low homovanillic acid and 5-hydroxyindoleacetic acid levels. Whole-exome sequencing revealed a novel mutation homozygous in both children in the monoamine transporter gene SLC18A2 (p.Pro237His), resulting in brain dopamine-serotonin vesicular transport disease. This is the second family to be described with a mutation in this gene. Treatment with the dopamine agonist pramipexole in the surviving child resulted in mild improvements in alertness, communication, and eye movements. This case supports the identification of the causal mutation in the original case, expands the clinical phenotype of brain dopamine-serotonin vesicular transport disease and confirms that pramipexole treatment may lead to symptomatic improvement in affected individuals.

  11. Differences between pediatric and adult celiac disease Diferencias entre la enfermedad celiaca infantil y del adulto

    Directory of Open Access Journals (Sweden)

    Luis Rodrigo Sáez

    2011-05-01

    Full Text Available Introduction: celiac disease (CD is a common autoimmune condition (involves 1-2% of the general population that develops at any age in life but manifests differently in children and adults. Objectives: to analyze clinical differences in disease expression between both groups, as well as findings at the time of diagnosis. Methods: a retrospective study of a series of patients diagnosed with CD during childhood ( 14 years. Results: a total of 187 patients were included, of which 43 were children and 144 were adults. Among clinical manifestations in children classic presentation forms predominated -34 patients (79% versus 20 adult patients (14% (p Introducción: la enfermedad celiaca (EC es un proceso frecuente (afecta al 1-2% en población general, de naturaleza autoimmune, que aparece a cualquier edad de la vida, pero que se presenta de forma diferente en el niño que en el adulto. Objetivos: analizar las diferencias clínicas en las formas de expresión de la enfermedad entre ambos grupos, así como los hallazgos al momento del diagnóstico. Métodos: estudio retrospectivo de una serie de pacientes diagnosticados, en la infancia ( 14 años. Resultados: se incluyeron un total de 187 pacientes, de los cuales 43 eran niños y 144 adultos. En las manifestaciones clínicas de los niños, predominaron las formas de presentación clásicas, 34 casos (79% frente a los adultos 20 casos (14% (p < 0,001 (OR = 23,4; IC-95%: 9,8-56,1. Por el contrario, en estos predominaron las formas atípicas, siendo la anemia el hallazgo más frecuente en 61 casos (42% frente a 8 casos (19% en los niños (p < 0,01. En los adultos existía un mayor retraso diagnóstico con una media de 10 ± 9 años, frente a los niños, que es de 1 ± 2 años (p < 0,001. Encontramos en los adultos una mayor frecuencia de enfermedades autoinmunes asociadas (24,3%, frente al 9,3% en niños (p < 0,05. Respecto a los marcadores serológicos, la TGt-2 fue más frecuentemente positiva en los ni

  12. Thyrotoxic and pheochromocytoma multisystem crisis: a case report.

    Science.gov (United States)

    Suzuki, Kodai; Miyake, Takahito; Okada, Hideshi; Yamaji, Fuminori; Kitagawa, Yuichiro; Fukuta, Tetsuya; Yasuda, Ryu; Tanaka, Yoshihito; Okamoto, Haruka; Nachi, Sho; Doi, Tomoaki; Yoshida, Takahiro; Kumada, Keisuke; Yoshida, Shozo; Ushikoshi, Hiroaki; Toyoda, Izumi; Ogura, Shinji

    2017-06-23

    Thyrotoxic crisis and pheochromocytoma multisystem crisis are rare, life-threatening, emergency endocrine diseases with various clinical manifestations. Here we report a case of a patient who simultaneously developed thyrotoxic crisis and pheochromocytoma multisystem crisis and required intensive cardiovascular management. A 60-year-old Asian man experienced nausea and vomiting, and subsequently developed dyspnea and cold sweats while farming. His serum free thyroxine, free triiodothyronine, and thyrotropin receptor antibody levels were elevated at 2.9 ng/dL, 7.2 pg/dL, and 4.7 IU/L, respectively. Serum thyrotropin levels were suppressed at less than 0.01 μIU/mL. Thyroid echography demonstrated no thyroid swelling (23 × 43 mm). A whole body computed tomography was performed for systemic evaluation. This revealed exophthalmos and a mass of size 57 × 64 mm in the anterior pararenal space. Based on these findings, we made an initial diagnosis of thyrotoxic crisis secondary to exacerbation of Grave's hyperthyroidism. Treatment was begun with an iodine agent at a dose of 36 mg/day, thiamazole at a dose of 30 mg/day, and hydrocortisone at a dose of 300 mg daily for 3 consecutive days. To control tachycardia, continuous intravenously administered propranolol and diltiazem infusions were given. At the same time, small doses of doxazosin and carvedilol were used for both alpha and beta adrenergic blockade. On hospital day 5, his blood pressure and serum catecholamine concentrations (adrenalin 42,365 pg/mL, dopamine 6409 pg/mL, noradrenalin 72,212 pg/mL) were still high despite higher beta blocker and calcium channel blocker doses. These findings contributed to the diagnosis of pheochromocytoma multisystem crisis with simultaneous thyrotoxic crisis. We increased the doses of doxazosin and carvedilol, which stabilized his hemodynamic status. On hospital day 16, metaiodobenzylguanidine scintigraphy showed high accumulation in the right adrenal gland tumor

  13. The international implementation of multisystemic therapy.

    Science.gov (United States)

    Schoenwald, Sonja K; Heiblum, Naamith; Saldana, Lisa; Henggeler, Scott W

    2008-06-01

    The purpose of this article is to consider, through the lenses of theory and research on technology transfer and the adoption and implementation of innovation, the international transport of evidence-based psychosocial treatments for youth, using Multisystemic Therapy (MST) as an example. MST is a well-validated family and community-based approach originally developed in the United States to treat serious juvenile offenders. This article describes challenges to MST transport internationally by virtue of the political, legal, economic, and cultural contexts in different nations. Modifications used to address these challenges and facilitate the international implementation of MST are described and pertain to pre-implementation processes, clinical staff, training materials and procedures, and clinical service delivery.

  14. Frequency of allergy to cow’s milk proteins and its association to other allergic diseases in patients of Hospital Infantil de Mexico Federico Gomez

    Directory of Open Access Journals (Sweden)

    María Teresa Robles-Vargas

    2014-09-01

    Full Text Available Background: The cow’s milk protein allergy is the most common food allergy among children under two years and is associated with other atopic diseases. Objective: To evaluate cow’s milk protein allergy frequency in patients sensitized to them, attended at the consultation of Immunology and Allergy in the Hospital Infantil de México Federico Gómez, and its association with other atopic diseases. Material and method: A cross-sectional, analytical and descriptive study that reviewed medical records of patients aged 0-19 years, attended at the consultation of Immunology and Allergy in the Hospital Infantil de México Federico Gómez, from January 2010 to January 2013, sensitized to the cow’s milk protein by in vitro or in vivo studies, mediated or not by IgE, to determine its association with other atopic diseases during the course of their clinical evolution. Results: We included 252 patients with symptoms suggestive of cow’s milk protein allergy, which was diagnosed only in 15.1% by oral challenge. In relation to respiratory symptoms, about two-thirds of patients had rhinorrhea, nasal obstruction and nasal itching. Regarding gastrointestinal symptoms, about a third had abdominal pain, diarrhea and abdominal distension, being statistically significant. The most common dermatologic symptom, statistically significant, was xerosis. The most frequently associated atopic diseases were food allergy (76.3%, allergic rhinitis (65.8%, asthma (47.4% and atopic dermatitis (23%. Conclusions: The cow’s milk protein allergy can be associated with other atopic diseases, such as allergy to other foods, allergic rhinitis, asthma and atopic dermatitis.

  15. Infantile Refsum Disease

    Science.gov (United States)

    ... syndrome. Symptoms of IRD begin in infancy with retinitis pigmentosa, a visual impairment that often leads to blindness, ... syndrome. Symptoms of IRD begin in infancy with retinitis pigmentosa, a visual impairment that often leads to blindness, ...

  16. A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.

    Science.gov (United States)

    Lev, Dorit; Weigl, Yuval; Hasan, Mariana; Gak, Eva; Davidovich, Michael; Vinkler, Chana; Leshinsky-Silver, Esther; Lerman-Sagie, Tally; Watemberg, Nathan

    2007-05-01

    Norrie disease (ND) is a rare X-linked recessive disorder characterized by congenital blindness and in some cases, mental retardation and deafness. Other neurological complications, particularly epilepsy, are rare. We report on a novel mutation identified in a patient with ND and profound mental retardation. The patient was diagnosed at the age of 6 months due to congenital blindness. At the age of 8 months he developed infantile spasms, which were diagnosed at 11 months as his EEG demonstrated hypsarrhythmia. Mutation analysis of the ND gene (NDP) of the affected child and his mother revealed a novel missense mutation at position c.134T > A resulting in amino acid change at codon V45E. To the best of our knowledge, such severe neurological involvement has not been previously reported in ND patients. The severity of the phenotype may suggest the functional importance of this site of the NDP gene.

  17. CubeSat Handling of Multisystem Precision Time Transfer (CHOMPTT)

    Data.gov (United States)

    National Aeronautics and Space Administration — The CubeSat Handling of Multisystem Precision Time Transfer (CHOMPTT) mission is a precision timing satellite equipped with atomic clocks synchronized with a ground...

  18. Recurrent infantile digital fibromatosis

    African Journals Online (AJOL)

    We present a case of an 8-year-old-boy with recurrent infantile digital fibromatosis (IDF) who presented with new ... Keywords: fibrous tumors, inclusion body fibromatosis, infantile digital fibromatosis, spindle cells, Reye tumor .... watch-and-wait strategy for patients with histologically confirmed IDF nodules that do not cause ...

  19. Literatura infantil sobre problemas infantiles: la diabetes

    OpenAIRE

    Lázaro Fernández, Patricia

    2015-01-01

    Debido al creciente número de casos de diabetes infantil que se está dando en la sociedad actual, no es raro encontrarse en las aulas cada vez más casos de esta enfermedad. Por esta razón, he decidido analizar dos libros sobre esta temática, para hacer un acercamiento del material seleccionado a las aulas y poder desarrollar junto con los niños un aprendizaje colectivo y cooperativo. En este trabajo se expone la importancia de la literatura y la literatura infantil como una ...

  20. Emergent multisystemic Enterococcus infection threatens endangered Christmas Island reptile populations.

    Directory of Open Access Journals (Sweden)

    Karrie Rose

    Full Text Available Multisystemic infections with a morphologically unusual bacterium were first observed in captive critically endangered Lister's geckos (Lepidodactylus listeri on Christmas Island in October 2014. Since then the infection was identified in another captive critically endangered lizard species, the blue-tailed skink (Cryptoblepharus egeriae and two species of invasive geckos; the four clawed gecko (Gehyra mutilata and Asian house gecko (Hemidactylus frenatus, in a wide geographic range across the east side of the island. The Gram and periodic acid-Schiff positive cocci to diplococci have a propensity to form chains surrounded by a matrix, which ultrastructurally appears to be formed by fibrillar capsular projections. The bacterium was associated with severe and extensive replacement of tissues, but minimal host inflammatory response. Attempts to grow the organism in culture and in embryonated eggs were unsuccessful. Molecular characterisation of the organism placed it as a novel member of the genus Enterococcus. Disease Risk Analyses including this organism should now be factored into conservation management actions and island biosecurity.

  1. [BIPOLAR DISORDER AS A MULTI-SYSTEM ILLNESS].

    Science.gov (United States)

    Fenchel, Daphna; Levkovitz, Yechiel; Kotler, Moshe

    2017-12-01

    Bipolar disorder is a chronic condition, characterized by high distress in patients and high suicide rates (30%). Most patients suffer from medical and other psychiatric comorbidities, which worsen the psychiatric symptoms and decrease the likelihood of remission. More than 70% of bipolar patients have cardio-metabolic symptoms, with higher rates compared to other psychiatric disorders. Cardiovascular disease is the major cause of high mortality rates in these patients, with 1.5-2 fold increased risk of mortality, compared to the general population without psychiatric symptoms. The rates of cardiovascular risk factors and their resulting increased mortality rates are similar to those found in schizophrenia. In addition to cardio-metabolic conditions, 50% of patients with bipolar disorder suffer from other medical symptoms, which are also associated with worse outcomes. Therefore, the current perspective is that bipolar disorder is not only a psychiatric disorder, but rather a multi-system illness, affecting the entire body. The optimal treatment for these patients should include diagnosis, monitoring and treatment of both psychiatric and physical symptoms, which would improve their prognosis.

  2. [Xanthoma disseminatum with asymptomatic multisystem involvement].

    Science.gov (United States)

    Zinoun, M; Hali, F; Marnissi, F; Lazaar, S; Benchikhi, H

    2015-04-01

    Xanthogranulomas belong to non-Langerhans histiocytosis of the second group in the Histiocyte Society classification. They comprise a heterogeneous group of rare entities frequently involving cutaneous tropism. Xanthoma disseminatum belongs to this group of non-Langerhans histiocytosis. We report a case of xanthoma disseminatum (XD) in which localized skin and mucous impairment revealed multisystem involvement. A 28-year-old man presented with a two-year history of progressive yellow-orange and infiltrated xanthomatous papulonodular lesions of the face. Lesions of the oral mucosa and genital region were seen, with no functional repercussions. No ophthalmic or other complications were found. Histopathology showed a dense histiocytic infiltrate within the dermis with Touton giant cells, foamy multinucleated giant cells and inflammatory cells, without necrobiosis. Histiocytes were positive for CD68 but negative for CD1a. Gastric and lung involvement was seen and was confirmed at histology. Bone scintigraphy showed suspicious left ulnar hyperfixation suggesting bone involvement. No monoclonal gammopathy or diabetes insipidus was seen. Our patient was treated with corticosteroids 1mg/kg/day and thalidomide 100 mg/day. The outcome was marked by regression and exfiltration of the cutaneous lesions from the second week of treatment, with subsidence continuing at 3 months. This case involves a very rare form of xanthoma disseminatum. The localized facial skin lesions revealed multifocal non-Langerhans histiocytosis that was in fact asymptomatic. The diagnosis of XD was based on clinical, histological and immunohistochemical criteria. Xanthoma disseminatum is a non-Langerhans histiocytic proliferation first described by Montgomery in 1938. This rare entity is characterized by skin and mucous membrane xanthomatosis in which the facial involvement is common, together with diabetes insipidus and normal lipid metabolism. The prognosis is determined by the presence of mucosal

  3. Violencia y TV infantil

    Directory of Open Access Journals (Sweden)

    Valerio Fuenzalida

    2015-01-01

    Full Text Available Se establece tres razones para discrepar del “criterio reduccionista” que relaciona la violencia televisiva con la violencia real, particularmente en lo atinente a la televisión infantil. A base de las motivaciones infantiles para ver televisión, propone algunas líneas de acción que superen ese reduccionismo y optimicen la relación niños-televisión.

  4. Effect of Gabapentin/Memantine on the Infantile Nystagmus Syndrome in the Zebrafish Model: Implications for the Therapy of Ocular Motor Diseases.

    Science.gov (United States)

    Bögli, Stefan Yu; Afthinos, Maresa; Huang, Melody Ying-Yu

    2017-06-01

    Infantile nystagmus syndrome (INS) is a disorder characterized by typical horizontal eye oscillations. Due to the uncertain etiology of INS, developing specific treatments remains difficult. Single reports demonstrated, on limited measures, alleviating effects of gabapentin and memantine. In the current study, we employed the zebrafish INS model belladonna (bel) to conduct an in-depth study of how gabapentin and memantine interventions alleviate INS signs, which may further restore visual conditions in affected subjects. Moreover, we described the influence of both medications on ocular motor functions in healthy zebrafish, evaluating possible iatrogenic effects. Ocular motor function and INS characteristics were assessed by eliciting optokinetic response, spontaneous nystagmus, and spontaneous saccades in light and in dark, in 5- to 6-day postfertilization bel larvae and heterozygous siblings. Single larvae were recorded before and after a 1-hour drug treatment (200 mM gabapentin/0.2 mM memantine). Both interventions significantly reduced nystagmus intensity (gabapentin: 59.98%, memantine: 39.59%). However, while the application of gabapentin affected all tested ocular motor functions, memantine specifically reduced nystagmus amplitude and intensity, and thus left controls completely unaffected. Finally, both drug treatments resulted in specific changes in nystagmus waveform and velocity. Our study provides deeper insight into gabapentin and memantine treatment effect in the zebrafish INS model. Moreover, this study should establish zebrafish as a pharmacologic animal model for treating nystagmus and ocular motor disease, serving as a basis for future large-scale drug screenings.

  5. Infantile onset Vanishing White Matter disease associated with a novel EIF2B5 variant, remarkably long life span, severe epilepsy, and hypopituitarism.

    Science.gov (United States)

    Woody, April L; Hsieh, David T; McIver, Harkirtin K; Thomas, Linda P; Rohena, Luis

    2015-04-01

    Vanishing White Matter disease (VWM) is an inherited progressive leukoencephalopathy caused by mutations in the genes EIF2B1-5, which encode for the 5 subunits of the eukaryotic initiation factor 2B (eIF2B), a regulator of protein synthesis. VWM typically presents with acute neurological decline following febrile infections or minor head trauma, and subsequent progressive neurological and cognitive regression. There is a varied clinical spectrum of VWM, with earlier onset associated with more severe phenotypes. Brain magnetic resonance imaging is usually diagnostic with diffusely abnormal white matter, progressing over time to cystic degeneration. We are reporting on a patient with infantile onset VWM associated with three heterozygous missense variants in EIF2B5, including a novel missense variant on exon 6 of EIF2B5 (D262N), as well as an interstitial duplication at 7q21.12. In addition, our case is unusual because of a severe epilepsy course, a novel clinical finding of hypopituitarism manifested by hypothyroidism and adrenal insufficiency, and a prolonged life span with current age of survival of 4 years and 11 months. © 2015 Wiley Periodicals, Inc.

  6. Genetics Home Reference: early infantile epileptic encephalopathy 1

    Science.gov (United States)

    ... Early infantile epileptic encephalopathy 1 (EIEE1) is a seizure disorder characterized by a type of seizure known as ... 2 links) Health Topic: Developmental Disabilities Health Topic: Epilepsy Genetic and Rare Diseases Information Center (1 link) ...

  7. Infantilism: Theoretical Construct and Operationalization

    Science.gov (United States)

    Sabelnikova, Y. V.; Khmeleva, N. L.

    2018-01-01

    The aim of this article is to define and operationalize the construct of infantilism. The methods of theoretical research involve analysis and synthesis. Age and content criteria are analyzed for childhood and adulthood. Infantile traits in an adult are described. Results: The characteristics of adult infantilism in the modern world are defined,…

  8. El maltrato infantil

    OpenAIRE

    Mazo Toledo, María

    2014-01-01

    Se estudia el maltrato infantil desde sus antecedentes, así como su tipología, causas y consecuencias. Además de abordar el abuso sexual de forma más amplia. También se expone la evaluación psicológica junto con sus técnicas. Es fundamental la utilización de medidas para la prevención del maltrato infantil, pues una gran parte de los problemas en el niño se ven reflejados en su vida adulta

  9. Infantile abuse: Radiological diagnosis

    Directory of Open Access Journals (Sweden)

    Ana Teresa Araujo Reyes

    2006-08-01

    Full Text Available Infantile abuse is a frequent problem, that must be suspected to bediagnosed, the children victims of infantile abuse can present anytype of injury, nevertheless there are associated injuries common toan inferred trauma that constitute radiological patterns highly specific for abuse, among them are the metafisial injuries, posterior costal fractures and first costal arc fractures, fractures of the toracolumbar region, fractures without apparent explanation, fractures in different stage of evolution, subdural hematoma, subarachnoid hemorrhage, intraparenquimatose contusion and diffuse axonal injury, which combined with the history of the trauma, the age, the development of mental abilities, as well as the mechanism guides the injury diagnose.

  10. Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.

    Directory of Open Access Journals (Sweden)

    Suhrad G Banugaria

    Full Text Available OBJECTIVE: Although enzyme replacement therapy (ERT is a highly effective therapy, CRIM-negative (CN infantile Pompe disease (IPD patients typically mount a strong immune response which abrogates the efficacy of ERT, resulting in clinical decline and death. This study was designed to demonstrate that immune tolerance induction (ITI prevents or diminishes the development of antibody titers, resulting in a better clinical outcome compared to CN IPD patients treated with ERT monotherapy. METHODS: We evaluated the safety, efficacy and feasibility of a clinical algorithm designed to accurately identify CN IPD patients and minimize delays between CRIM status determination and initiation of an ITI regimen (combination of rituximab, methotrexate and IVIG concurrent with ERT. Clinical and laboratory data including measures of efficacy analysis for response to ERT were analyzed and compared to CN IPD patients treated with ERT monotherapy. RESULTS: Seven CN IPD patients were identified and started on the ITI regimen concurrent with ERT. Median time from diagnosis of CN status to commencement of ERT and ITI was 0.5 months (range: 0.1-1.6 months. At baseline, all patients had significant cardiomyopathy and all but one required respiratory support. The ITI regimen was safely tolerated in all seven cases. Four patients never seroconverted and remained antibody-free. One patient died from respiratory failure. Two patients required another course of the ITI regimen. In addition to their clinical improvement, the antibody titers observed in these patients were much lower than those seen in ERT monotherapy treated CN patients. CONCLUSIONS: The ITI regimen appears safe and efficacious and holds promise in altering the natural history of CN IPD by increasing ERT efficacy. An algorithm such as this substantiates the benefits of accelerated diagnosis and management of CN IPD patients, thus, further supporting the importance of early identification and treatment

  11. Amyotrophic Lateral Sclerosis, a Multisystem Pathology: Insights into the Role of TNFα

    Directory of Open Access Journals (Sweden)

    Massimo Tortarolo

    2017-01-01

    Full Text Available Amyotrophic lateral sclerosis (ALS is considered a multifactorial, multisystem disease in which inflammation and the immune system play important roles in development and progression. The pleiotropic cytokine TNFα is one of the major players governing the inflammation in the central nervous system and peripheral districts such as the neuromuscular and immune system. Changes in TNFα levels are reported in blood, cerebrospinal fluid, and nerve tissues of ALS patients and animal models. However, whether they play a detrimental or protective role on the disease progression is still not clear. Our group and others have recently reported opposite involvements of TNFR1 and TNFR2 in motor neuron death. TNFR2 mediates TNFα toxic effects on these neurons presumably through the activation of MAP kinase-related pathways. On the other hand, TNFR2 regulates the function and proliferation of regulatory T cells (Treg whose expression is inversely correlated with the disease progression rate in ALS patients. In addition, TNFα is considered a procachectic factor with a direct catabolic effect on skeletal muscles, causing wasting. We review and discuss the role of TNFα in ALS in the light of its multisystem nature.

  12. El dibujo infantil /

    OpenAIRE

    Rada Ojer, Ángela

    2012-01-01

    La autora en este trabajo habla del dibujo infantil que es un lenguaje y una herramienta de alto valor comunicativo y valora cómo las situaciones vitales por las que pasa un niño pueden quedar reflejadas en sus manifestaciones gráficas

  13. Behandling af infantile spasmer

    DEFF Research Database (Denmark)

    Kjærsgård, Lars; Rasmussen, Niels

    2006-01-01

    Infantile spasms (IS) are characterised by neurodevelopmental regression, a unique type of seizures and a hypsarrhythmic EEG pattern. Studies recommend the medical treatment of IS as a positive short-term outcome with respect to the spasms and in the resolution of the hypsarrhythmia. However...

  14. Infantile hypertrophic pyloric stenosis

    DEFF Research Database (Denmark)

    Pedersen, Rikke Neess; Garne, Ester; Loane, Maria

    2008-01-01

    OBJECTIVE: The objective of this study was to present epidemiologic data on infantile hypertrophic pyloric stenosis (IHPS) from seven well-defined European regions, and to compare incidence and changes in incidence over time between these regions. METHODS: This was a population-based study using ...

  15. Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state.

    Science.gov (United States)

    Matsuoka, Takashi; Miwa, Yoshiyuki; Tajika, Makiko; Sawada, Madoka; Fujimaki, Koichiro; Soga, Takashi; Tomita, Hideshi; Uemura, Shigeru; Nishino, Ichizo; Fukuda, Tokiko; Sugie, Hideo; Kosuga, Motomichi; Okuyama, Torayuki; Umeda, Yoh

    2016-12-01

    Pompe disease is an autosomal recessive, lysosomal glycogen storage disease caused by acid α-glucosidase deficiency. Infantile-onset Pompe disease (IOPD) is the most severe form and is characterized by cardiomyopathy, respiratory distress, hepatomegaly, and skeletal muscle weakness. Untreated, IOPD generally results in death within the first year of life. Enzyme replacement therapy (ERT) with recombinant human acid alpha glucosidase (rhGAA) has been shown to markedly improve the life expectancy of patients with IOPD. However, the efficacy of ERT in patients with IOPD is affected by the presence of symptoms and cross-reactive immunologic material (CRIM) status. We have treated two siblings with IOPD with ERT at different ages: the first was symptomatic and the second was asymptomatic. The female proband (Patient 1) was diagnosed with IOPD and initiated ERT at 4 months of age. Her younger sister (Patient 2) was diagnosed with IOPD at 10 days of age and initiated ERT at Day 12. Patient 1, now 6 years old, is alive but bedridden, and requires 24-hour invasive ventilation due to gradually progressive muscle weakness. In Patient 2, typical symptoms of IOPD, including cardiac failure, respiratory distress, progressive muscle weakness, hepatomegaly and myopathic facial features were largely absent during the first 12 months of ERT. Her cardiac function and mobility were well-maintained for the first 3 years, and she had normal motor development. However, she developed progressive hearing impairment and muscle weakness after 3 years of ERT. Both siblings have had low anti-rhGAA immunoglobulin G (IgG) antibody titers during ERT and have tolerated the treatment well. These results suggest that initiation of ERT during the pre-symptomatic period can prevent and/or attenuate the progression of IOPD, including cardiomyopathy, respiratory distress, and muscle weakness for first several years of ERT. However, to improve the long-term efficacy of ERT for IOPD, new strategies

  16. Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease

    NARCIS (Netherlands)

    Schram, A. W.; Strijland, A.; Hashimoto, T.; Wanders, R. J.; Schutgens, R. B.; van den Bosch, H.; Tager, J. M.

    1986-01-01

    The biosynthesis of the peroxisomal enzymes acyl-CoA oxidase, 3-oxoacyl-CoA thiolase (acetyl-CoA acyl-transferase, EC 2.3.1.16), and catalase (EC 1.11.1.6) was studied in cultured skin fibroblasts from a control subject and from patients with Zellweger syndrome and the infantile form of Refsum

  17. A novel two-nucleotide deletion in the ATP7A gene associated with delayed infantile onset of Menkes disease.

    Science.gov (United States)

    Wada, Takahito; Haddad, Marie Reine; Yi, Ling; Murakami, Tomomi; Sasaki, Akiko; Shimbo, Hiroko; Kodama, Hiroko; Osaka, Hitoshi; Kaler, Stephen G

    2014-04-01

    Determining the relationship between clinical phenotype and genotype in genetic diseases is important in clinical practice. In general, frameshift mutations are expected to produce premature termination codons, leading to production of mutant transcripts destined for degradation by nonsense-mediated decay. In X-linked recessive diseases, male patients with frameshift mutations typically have a severe or even lethal phenotype. We report a case of a 17-month-old boy with Menkes disease (NIM #309400), an X-linked recessive copper metabolism disorder caused by mutations in the ATP7A copper transporter gene. He exhibited an unexpectedly late onset and experienced milder symptoms. His genomic DNA showed a de novo two-nucleotide deletion in exon 4 of ATP7A, predicting a translational frameshift and premature stop codon, and a classic severe phenotype. Characterization of his ATP7A mRNA showed no abnormal splicing. We speculate that translation reinitiation could occur downstream to the premature termination codon and produce a partially functional ATP7A protein. Study of the child's fibroblasts found no evidence of translation reinitiation; however, the possibility remains that this phenomenon occurred in neural tissues and influenced the clinical phenotype. Copyright © 2014 Elsevier Inc. All rights reserved.

  18. Use of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapy.

    Science.gov (United States)

    Barker, Piers C A; Pasquali, Sara K; Darty, Stephen; Ing, Richard J; Li, Jennifer S; Kim, Raymond J; DeArmey, Stephanie; Kishnani, Priya S; Campbell, Michael J

    2010-12-01

    /m(2) (range 43.8-334) vs. CMR median at most recent study 44.5 g/m(2) (range 34-303), p=0.44). In 5 patients with serial CMR scans over time, LVMI decreased in 2, was similar in 2, and increased in 1 patient with high sustained antibodies to exogenous enzyme. Delayed enhancement was noted in only l separate patient who also had high sustained antibodies to exogenous enzyme. CMR is an imaging tool that is feasible to use to serially follow LVMI and EF in children with Pompe disease on ERT. Real-time imaging is adequate for quantification purposes in these patients and minimizes the need for sedation. Quantitative CMR LVMI is generally lower than echo derived LVMI. Delayed enhancement appears to be a rare finding by CMR in Pompe disease. A further follow-up is necessary to better understand the long term effects of ERT in infantile Pompe survivors, especially those with high sustained antibody titers or advanced cardiac disease at treatment outset. Copyright © 2010 Elsevier Inc. All rights reserved.

  19. Kawasaki disease: a rare pediatric pathology in Mexico. Twenty cases report from the Hospital Infantil del Estado de Sonora.

    Science.gov (United States)

    Sotelo, Norberto; González, Luis Antonio

    2007-01-01

    Kawasaki disease (KD) is an etiological illness that is relatively unknown and scarcely identified in Mexico; it affects children mainly aged 1-4 years, evolves with fever, vasculitis in diverse organs, and in the heart the disease mainly affects the coronary arteries. Our aim was to inform the clinical findings and evolution of 20 patients diagnosed with KD. We reviewed the patient clinical files retrospectively and descriptively to obtain information with regard to age, sex, clinical signs, laboratory and consultory results, echocardiography findings, complications, evolution during hospitalization, followup, and out-patient ambulatory consultations. Eighteen patients were male, two were female, six developed coronary damage, two aortic mitral-valve insufficiency, one pericardial shedding, and one, myocarditis. All patients received gamma globulin treatment with aspirin, and 16 were controlled during 6-8 months after the acute medical profile. The opportune clinical diagnostic it is fundamental to establish an early treatment with gammmaglobuline to avoid injuries in the arterial coronary level. This injury may cause eventualy ischemia or myocardial infarct

  20. Genetics Home Reference: neonatal onset multisystem inflammatory disease

    Science.gov (United States)

    ... Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, Stein L, Russo R, Goldsmith D, Dent ... Review. Citation on PubMed Dollfus H, Häfner R, Hofmann HM, Russo RA, Denda L, Gonzales LD, DeCunto ...

  1. Enfermedad neumocócica invasiva en la población infantil de la Comunidad Valenciana Invasive pneumococcal disease in children in the community of Valencia, Spain

    Directory of Open Access Journals (Sweden)

    M. Goicoechea-Sáez

    2003-12-01

    Full Text Available Objetivo: La enfermedad neumocócica es una causa frecuente de morbilidad y mortalidad entre la población infantil. La reciente autorización de la vacuna conjugada heptavalente ha incrementado el interés científico que suscita esta enfermedad. El objetivo de este estudio es conocer las características epidemiológicas y clínicas, así como la evolución de esta enfermedad invasiva en la población infantil de la Comunidad Valenciana. Método: Los datos se han obtenido de las historias clínicas de los niños menores de 15 años, con aislamiento del neumococo, atendidos en todos los hospitales públicos de la Comunidad Valenciana durante el período 1996-2000. La evolución de la incidencia se valoró mediante la comparación de tasas, los signos clínicos y su evolución (secuelas y letalidad mediante la evaluación de la frecuencia y su distribución por edades. Resultados: Se registró un total de 127 casos, lo que representa un promedio de tasa anual de 3,89/105 habitantes en los menores de 15 años y de 20,14 en los menores de 2 años. Presentaron antecedentes de problemas de salud un 29,1% de los pacientes. Las manifestaciones clínicas predominantes fueron sepsis/bacteriemia (38%, neumonía (31% y meningitis (24%. Al alta, presentaban secuelas 10 niños, de los que el 75% eran menores de 2 años. Fallecieron 8 niños (letalidad del 6,3%. Conclusiones: En nuestro medio, durante el período estudiado, la infección neumocócica se presenta sobre todo en los niños menores de 2 años, así como en los mayores de esta edad con antecedentes de problemas de salud. En estos últimos se ha encontrado una mayor mortalidad. Sería conveniente introducir la enfermedad neumocócica en el Sistema de Vigilancia Epidemiológica, lo que nos permitiría disponer de estimaciones más precisas de su evolución epidemiológica y valorar si la vacuna conjugada es la solución a los problemas que plantea esta bacteria en la actualidad

  2. Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency

    Directory of Open Access Journals (Sweden)

    Neal Sondheimer

    2017-09-01

    Full Text Available Coenzyme Q10 (CoQ10 or ubiquinone is one of the two electron carriers in the mitochondrial respiratory chain which has an essential role in the process of oxidative phosphorylation. Defects in CoQ10 synthesis are usually associated with the impaired function of CoQ10–dependent complexes I, II and III. The recessively transmitted CoQ10 deficiency has been associated with a number of phenotypically and genetically heterogeneous groups of disorders manifesting at variable age of onset. The infantile, multisystemic presentation is usually caused by mutations in genes directly involved in CoQ10 biosynthesis. To date, mutations in COQ1 (PDSS1 and PDSS2, COQ2, COQ4, COQ6, COQ7, COQ8A/ADCK3, COQ8B/ADCK4, and COQ9 genes have been identified in patients with primary form of CoQ10 deficiency. Here we report novel mutations in the COQ4 gene, which were identified in an infant with profound mitochondrial disease presenting with perinatal seizures, hypertrophic cardiomyopathy and severe muscle CoQ10 deficiency.

  3. Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency.

    Science.gov (United States)

    Sondheimer, Neal; Hewson, Stacy; Cameron, Jessie M; Somers, Gino R; Broadbent, Jane Dunning; Ziosi, Marcello; Quinzii, Catarina Maria; Naini, Ali B

    2017-09-01

    Coenzyme Q 10 (CoQ 10 ) or ubiquinone is one of the two electron carriers in the mitochondrial respiratory chain which has an essential role in the process of oxidative phosphorylation. Defects in CoQ 10 synthesis are usually associated with the impaired function of CoQ 10 -dependent complexes I, II and III. The recessively transmitted CoQ 10 deficiency has been associated with a number of phenotypically and genetically heterogeneous groups of disorders manifesting at variable age of onset. The infantile, multisystemic presentation is usually caused by mutations in genes directly involved in CoQ 10 biosynthesis. To date, mutations in COQ1 ( PDSS1 and PDSS2 ), COQ2 , COQ4 , COQ6 , COQ7 , COQ8A / ADCK3 , COQ8B/ADCK4 , and COQ9 genes have been identified in patients with primary form of CoQ 10 deficiency. Here we report novel mutations in the COQ4 gene, which were identified in an infant with profound mitochondrial disease presenting with perinatal seizures, hypertrophic cardiomyopathy and severe muscle CoQ 10 deficiency.

  4. Plasmodium coatneyi in Rhesus Macaques Replicates the Multisystemic Dysfunction of Severe Malaria in Humans

    Science.gov (United States)

    Cabrera-Mora, Monica; Garcia, AnaPatricia; Orkin, Jack; Strobert, Elizabeth; Barnwell, John W.; Galinski, Mary R.

    2013-01-01

    Severe malaria, a leading cause of mortality among children and nonimmune adults, is a multisystemic disorder characterized by complex clinical syndromes that are mechanistically poorly understood. The interplay of various parasite and host factors is critical in the pathophysiology of severe malaria. However, knowledge regarding the pathophysiological mechanisms and pathways leading to the multisystemic disorders of severe malaria in humans is limited. Here, we systematically investigate infections with Plasmodium coatneyi, a simian malaria parasite that closely mimics the biological characteristics of P. falciparum, and develop baseline data and protocols for studying erythrocyte turnover and severe malaria in greater depth. We show that rhesus macaques (Macaca mulatta) experimentally infected with P. coatneyi develop anemia, coagulopathy, and renal and metabolic dysfunction. The clinical course of acute infections required suppressive antimalaria chemotherapy, fluid support, and whole-blood transfusion, mimicking the standard of care for the management of severe malaria cases in humans. Subsequent infections in the same animals progressed with a mild illness in comparison, suggesting that immunity played a role in reducing the severity of the disease. Our results demonstrate that P. coatneyi infection in rhesus macaques can serve as a highly relevant model to investigate the physiological pathways and molecular mechanisms of malaria pathogenesis in naïve and immune individuals. Together with high-throughput postgenomic technologies, such investigations hold promise for the identification of new clinical interventions and adjunctive therapies. PMID:23509137

  5. Experimental Airborne Transmission of Porcine Postweaning Multisystemic Wasting Syndrome

    DEFF Research Database (Denmark)

    Kristensen, C. S.; Hjulsager, Charlotte Kristiane; Vestergaard, K.

    2013-01-01

    The objective of these studies was to investigate if porcine postweaning multisystemic wasting syndrome (PMWS) could be induced in healthy pigs following contact with air from pigs with clinical signs of PMWS. The pigs were housed in different units. Either 31 (study I) or 25 (study II) pigs with...... typical of PMWS. Sequence analysis revealed that the PCV2 isolate belonged to genotype 2b. In conclusion, the present study showed that PMWS can be induced in pigs from a PMWS-free herd by airborne contact with pigs from a PMWS-affected herd....

  6. Infantile spasms and pigmentary mosaicism

    DEFF Research Database (Denmark)

    Hansen, Lars K; Bygum, Anette; Krogh, Lotte N

    2010-01-01

    Summary We present a 3-year-old boy with pigmentary mosaicism and persistent intractable infantile spasms due to mosaicism of chromosome 7. Getting the diagnosis of pigmentary mosaicism in a child with infantile spasms may not be easy, as most diagnostic work-up is done in infancy, at a time when...

  7. Infantile pyoderma gangrenosum.

    LENUS (Irish Health Repository)

    McAleer, Maeve A

    2008-02-01

    Pyoderma gangrenosum (PG) is rare in infants. There have been 12 cases of PG in infants (<12 months old) reported in the past 25 years, to our knowledge. Six of these cases have been successfully controlled with systemic steroids, and one case with topical steroids alone. We report a case of an 8-month-old infant whose PG was aggressive and unresponsive to systemic steroids. Adjuvant treatment with cyclosporine was required to achieve healing. We review the previous cases of infantile PG and the therapeutic options in this age group.

  8. Hipoacusia neurosensorial infantil

    OpenAIRE

    Santos Santos, Saturnino

    2004-01-01

    En nuestro medio existe un déficit de información acerca de la importancia de los factores de riesgo implicados en la aparición de hipoacusia neurosensorial infantil y de las etiologías encontradas. Se estudió retrospectivamente una población de 2.656 niños enviados a nuestro centro para valoración auditiva por presentar factores de riesgo. 481 niños fueron diagnosticados de hipoacusia neurosensorial uni o bilateral de cualquier grado. La edad media al diagnóstico de hipoacusia neurosensorial...

  9. Espacio infantil y ludoteca

    OpenAIRE

    Lejarraga Molinero, Nekane

    2009-01-01

    Este proyecto desarrolla el estudio y análisis de un cambio de uso de un proyecto de uso administrativo en la ciudad de Pamplona. La realización de un cambio de uso de un edificio administrativo a un ESPACIO INFANTIL Y LUDOTECA en el barrio de la Rochapea. Se trata fundamentalmente de un centro lúdico junto al río Arga en el que puedan jugar y desarrollarse de una forma controlada los niños de este nuevo barrio.

  10. Economic Impact of Multisystemic Therapy for Child Abuse and Neglect.

    Science.gov (United States)

    Dopp, Alex R; Schaeffer, Cindy M; Swenson, Cynthia Cupit; Powell, Jennifer S

    2018-04-04

    This study evaluated the economics of Multisystemic Therapy for Child Abuse and Neglect (MST-CAN) by applying the Washington State Institute for Public Policy (WSIPP) cost-benefit model to data from a randomized effectiveness trial with 86 families (Swenson et al. in JFP 24:497-507, 2010b). The net benefit of MST-CAN, versus enhanced outpatient treatment, was $26,655 per family at 16 months post-baseline. Stated differently, every dollar spent on MST-CAN recovered $3.31 in savings to participants, taxpayers, and society at large. Policymakers and public service agencies should consider these findings when making investments into interventions for high-need families involved with child protective services.

  11. Aspectos incomuns da paracoccidioidomicose infantil

    Directory of Open Access Journals (Sweden)

    Achiléa Lisboa Bittencourt

    1987-12-01

    Full Text Available São relatados dois casos de paracoccidioidomicose (PCM infantil. Em um deles, a principal manifestação da doença foi tumoração abdominal, simulando linfoma maligno não Hodgkin. O outro apresentou acentuado envolvimento articular, com ruptura da cápsula. Representam o segundo e terceiro casos de PCM infantil observados na Bahia, ambos procedentes de áreas urbanas.The authors present two cases of infantil para-coccidioidomycosis. In one case the main presentation was an abdominal mass that mimicked non- Hodgkin lymphoma. In the other case the child had a joint swelling with rupture of the capsule and the clinical diagnosis was piogenic arthritis. They represent the second and third cases of infantile paracoccidioidomycosis observed in the state of Bahia, all coming from urban areas.

  12. La obesidad infantil /

    OpenAIRE

    Galea Barquero, Irene

    2013-01-01

    La obesidad infantil es la enfermedad de tipo nutricional que se da con más frecuencia en los niños de los países desarrollados, conlleva riesgos físicos y psicológicos y determinados estudios señalan que puede acortar la esperanza de vida en 13 años. En Castilla y León, la tasa de obesidad entre los niños en edad escolar es del 0,8%. La autora va a recoger datos y a realizar un estudio del desayuno que realizan estos niños por considerarlo la primera comida del día y la más importa...

  13. INFANTILISM: THEORETICAL CONSTRUCT AND OPERATIONALIZATION

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    Yelena V. Sabelnikova

    2016-01-01

    Full Text Available The aim of the presented research is to define and operationalize theoretically the concept of infantilism and its construct. The content of theoretical construct «infantilism» is analyzed. Methods. The methods of theoretical research involve analysis and synthesis. The age and content criteria are analysed in the context of childhood and adulthood. The traits which can be interpreted as adult infantile traits are described. Results. The characteristics of adult infantilism in modern world taking into account the increasing of information flows and socio-economic changes are defined. The definition of the concept «infantilism» including its main features is given. Infantilism is defined as the personal organization including features and models of the previous age period not adequate for the real age stage with emphasis on immaturity of the emotional and volitional sphere. Scientific novelty. The main psychological characteristics of adulthood are described as the reflection, requirement to work and professional activity, existence of professional self-determination, possession of labor skills, need for selfrealization, maturity of the emotional and volitional sphere. As objective adulthood characteristics are considered the following: transition to economic and territorial independence of a parental family, and also development of new social roles, such as a worker, spouse, and parent. Two options of a possible operationalization of concept are allocated: objective (existence / absence in real human life of objective criteria of adulthood and subjective (the self-report on subjective feeling of existence / lack of psychological characteristics of adulthood. Practical significance consists in a construct operationalization of «infantilism» which at the moment has so many interpretations. That operationalization is necessary for the further analysis and carrying out various researches. 

  14. Natural History of Infantile GM2 Gangliosidosis

    Science.gov (United States)

    Bley, Annette E.; Giannikopoulos, Ourania A.; Hayden, Doug; Kubilus, Kim; Tifft, Cynthia J.

    2011-01-01

    OBJECTIVE: GM2 gangliosidoses are caused by an inherited deficiency of lysosomal β-hexosaminidase and result in ganglioside accumulation in the brain. Onset during infancy leads to rapid neurodegeneration and death before 4 years of age. We set out to quantify the rate of functional decline in infantile GM2 gangliosidosis on the basis of patient surveys and a comprehensive review of existing literature. METHODS: Patients with infantile GM2 gangliosidosis (N = 237) were surveyed via questionnaire by the National Tay Sachs & Allied Diseases Association (NTSAD). These data were supplemented by survival data from the NTSAD database and a literature survey. Detailed retrospective surveys from 97 patients were available. Five patients who had received hematopoietic stem cell transplantation were evaluated separately. The mortality rate of the remaining 92 patients was comparable to that of the 103 patients from the NTSAD database and 121 patients reported in the literature. RESULTS: Common symptoms at onset were developmental arrest (83%), startling (65%), and hypotonia (60%). All 55 patients who had learned to sit without support lost that ability within 1 year. Individual functional measures correlated with each other but not with survival. Gastric tube placement was associated with prolonged survival. Tay Sachs and Sandhoff variants did not differ. Hematopoietic stem cell transplantation was not associated with prolonged survival. CONCLUSIONS: We studied the timing of regression in 97 cases of infantile GM2 gangliosidosis and conclude that clinical disease progression does not correlate with survival, likely because of the impact of improved supportive care over time. However, functional measures are quantifiable and can inform power calculations and study design of future interventions. PMID:22025593

  15. Disease: H00841 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available drome (BVVLS) [DS:H01903]; Fazio-Londe disease Infantile progressive bulbar palsy is a rare neurological disorder that occurs in chil...dren. Infantile progressive bulbar palsy presents as following two forms. The Brown

  16. Tuberculose infantil: estudo retrospectivo

    Directory of Open Access Journals (Sweden)

    Boaventura Antonio dos Santos

    2011-10-01

    Full Text Available Introdução: A tuberculose (TB infantil permanece como uma das doenças mais prevalentes e preocupantes no mundo, sobretudo em nações em desenvolvimento, onde as taxas são ainda mais elevadas e os casos descritos subestimados pela dificuldade em se estabelecer um diagnóstico definitivo. Dessa forma, este estudo tem como objetivo descrever o perfil clínico e epidemiológico dos pacientes com TB infantil pulmonar e extrapulmonar. Métodos: Foram avaliados retrospectivamente, através de questionário, pacientes com idade de até 15 anos, internados no Serviço de Pediatria do HCPA, no período de janeiro de 2002 a setembro de 2007.   Resultados: Dos 52 pacientes incluídos, 63% apresentavam TB pulmonar. Das formas extra-pulmonares, a meningoencefalite foi a mais prevalente (22%. Comorbidades foram dectadas em 31 (60% pacientes, dos quais 15 (29% apresentavam desnutrição grave, 9 (18% HIV positivo e 7 (13% pneumopatia crônica. Das manifestações clínicas, febre e tosse estavam presentes na maioria dos pacientes. O padrão radiológico predominante foi o de consolidação pulmonar (51%. A maioria dos pacientes referia história de contato com paciente bacilífero (64%. Conclusão: A TB pulmonar representa a principal forma de apresentação clínica da TB, sendo o diagnóstico feito de forma presuntiva na maioria dos casos. O diagnóstico baseado na comprovação bacteriológica foi obtido numa minoria de pacientes, demonstrando a importância dos achados clínico-laboratoriais, história epidemiológica e vacinal para o diagnóstico. Nesse sentido, a criação de escores tem se tornado uma ferramenta de fácil acesso e com razoável acurácia para auxiliar o diagnóstico de TB em serviços de baixa complexidade, especialmente o ambulatorial.

  17. The Resilience of Kepler Multi-systems to Stellar Obliquity

    Science.gov (United States)

    Spalding, Christopher; Marx, Noah W.; Batygin, Konstantin

    2018-04-01

    The Kepler mission and its successor K2 have brought forth a cascade of transiting planets. Many of these planetary systems exhibit multiple transiting members. However, a large fraction possesses only a single transiting planet. This high abundance of singles, dubbed the "Kepler Dichotomy," has been hypothesized to arise from significant mutual inclinations between orbits in multi-planet systems. Alternatively, the single-transiting population truly possesses no other planets in the system, but the true origin of the overabundance of single systems remains unresolved. In this work, we propose that planetary systems typically form with a coplanar, multiple-planetary architecture, but that quadrupolar gravitational perturbations from their rapidly-rotating host star subsequently disrupt this primordial coplanarity. We demonstrate that, given sufficient stellar obliquity, even systems beginning with 2 planetary constituents are susceptible to dynamical instability soon after planet formation, as a result of the stellar quadrupole moment. This mechanism stands as a widespread, yet poorly explored pathway toward planetary system instability. Moreover, by requiring that observed multi-systems remain coplanar on Gyr timescales, we are able to place upper limits on the stellar obliquity in systems such as K2-38 (obliquity < 20 degrees), where other methods of measuring spin-orbit misalignment are not currently available.

  18. A Multi-Systems Life Course Perspective of Economic Abuse

    Directory of Open Access Journals (Sweden)

    Kameri Christy

    2017-09-01

    Full Text Available Intimate partner violence (IPV against women slowly moved out of the private sphere and into the public realm in the United States in the early 1970’s. While progress has been made regarding psychological, physical, and sexual trauma related to IPV, it has been only in the last decade that attention about IPV has included an examination of the impact of economic abuse (EA. This is disturbing given that EA is one of the eight spokes on the Power and Control wheel (PCW and many women state that they are not able to leave or get away from the abusive relationship due to financial reasons. Using a multi-systems life course (MSLC perspective, this paper considers the importance of elevating EA as a form of IPV-related trauma. We examine EA’s differential impact among women, review current practices and policies, and conclude with implications for micro, mezzo, and macro levels of trauma-informed practice with survivors of EA.

  19. A young patient with multisystem complications after cytomegalovirus infection

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    Swaroopa Pulivarthi

    2014-01-01

    Full Text Available We are describing a case of an 18-year-old male patient with cytomegalovirus (CMV associated guillain-barre syndrome (GBS who presented with an acute onset of generalized weakness and numbness in the extremities, dysphagia, and facial diplegia, followed by respiratory failure, which led to mechanical ventilation. He had positive immunoglobulin G and immunoglobulin M antibodies against CMV, and CMV polymerase chain reaction was positive with <2000 copies of deoxyribonucleic acid. Human immunodeficiency virus test was negative. He received a course of ganciclovir, intravenous immunoglobulin, and plasmapheresis. After improving from acute episode, patient was transferred to a rehabilitation facility for physical and occupational therapy. At the rehabilitation facility, he exhibited signs of acute abdomen with pain in the left upper quadrant secondary to peritonitis from dislodged gastrostomy tube and underwent exploratory laparotomy. During the hospital course he was found to have splenic infarct and colitis on the computed tomography of abdomen. This case showed an immunocompetent young patient with multisystem complications including guillain-barre syndrome (GBS, splenic infarct, hepatitis, and colitis due to CMV.

  20. Infantile osteopetrosis with superimposed rickets.

    Science.gov (United States)

    Gonen, Korcan Aysun; Yazici, Zeynep; Gokalp, Gokhan; Ucar, Ayse Kalyoncu

    2013-01-01

    Rickets is a complication of infantile osteopetrosis and pre-treatment recognition of this complication is important. To describe four children with infantile osteopetrosis complicated by rickets (osteopetrorickets) and review the relevant literature. Retrospective chart analysis of four infants with osteopetrorickets and a systematic review of the relevant literature. We saw five children with infantile osteopetrosis, of whom four had superimposed rickets, for a period of 12 years. The review of the literature (including the current four children), yielded 20 children with infantile osteopetrorickets. The children ranged in age from 2 months to 12 months. In all children, hepatosplenomegaly was found. Sixteen (80%) children had visual impairments and eight (40%) children had hearing impairments. Serum calcium-phosphorus product was less than 30 in 18 children (90%). Twelve children (60%) were hypocalcemic and 18 (90%) were hypophosphatemic. In all children, the radiological examination demonstrated diffuse bony sclerosis and metaphyseal splaying and fraying of long bones. Five children (25%) had pathological fracture of extremities and 15 (75%) had rachitic rosary. Rickets as a complication to infantile osteopetrosis is not uncommon. Skeletal roentgenograms are of critical importance in the diagnosis of both osteopetrosis and superimposed rickets.

  1. Incorrecciones del habla infantil

    Directory of Open Access Journals (Sweden)

    María del Pino LECUONA NARANJO

    2009-11-01

    Full Text Available En el presente trabajo se pretende dar una visión de algunos rasgos característicos del lenguaje infantil, centrándonos especialmente en el estudio de los niños de 4 a 6 años de edad. Es pues, su finalidad fundamental la descripción y análisis de los rasgos que se pueden observar en la expresión verbal de los preescolares. Las diversas peculiaridades que van a ser objeto de examen se refieren a la emisión de incorrecciones de carácter fonético, morfológico y semántico. El análisis unificado de estos tres factores responde a la consideración de que todos surgen como consecuencia de un proceso de simplificación lingüística originado por un estado inconcluso de desarrollo del lenguaje.

  2. NUESTRA PORTADA Juegos infantiles

    Directory of Open Access Journals (Sweden)

    Ramon Balius i Juli

    2008-09-01

    Full Text Available En Nuestra Portada se muestra un fragmento de la obra Juegos Infantiles (Kinderspelen, original del pintor flamenco Pieter Bruegel el Viejo. Pieter Bruegel ha sido un artista de valoración tardía. No fue hasta principios del siglo xx que la grandeza de su arte mereció el reconocimiento de los críticos. Sorprendentemente es prácticamente desconocido en su etapa de formación, porque únicamente existe una corta descripción biográfica publicada en 1604 por Van Manden. En esta bibliografía, Bruegel era presentado como un ignorante dedicado a la pintura cómica y campestre. Según Van Manden, había nacido en Bruegel, un pueblo cercano a Breda, del cual tomó el apellido. Esta afirmación es falsa, porque parece probado que lo había heredado de su padre. La realidad es, como señala en 1567 Ludovic Guicciardini, que “Pietro Brueghel de Breda es un gran imitador de la ciencia y de la fantasía de Hieronymus Bosco”. El año de nacimiento es incierto y se sitúa entre 1525 y 1530.

  3. {sup 18}F-fluorodeoxyglucose positron emission tomography-computed tomography in the management of adult multisystem Langerhans cell histiocytosis

    Energy Technology Data Exchange (ETDEWEB)

    Obert, Julie [Universite Paris Diderot, Paris (France); Assistance Publique-Hopitaux de Paris, Centre National de Reference de l' Histiocytose Langerhansienne, Service de Pneumologie, Hopital Saint-Louis, Paris (France); Vercellino, Laetitia [Assistance Publique-Hopitaux de Paris, Service de Medecine Nucleaire, Hopital Saint-Louis, Paris (France); Van der Gucht, Axel [Universite Paris Diderot, Paris (France); Assistance Publique-Hopitaux de Paris, Service de Medecine Nucleaire, Hopital Saint-Louis, Paris (France); De Margerie-Mellon, Constance [Universite Paris Diderot, Paris (France); Assistance Publique-Hopitaux de Paris, Service de Radiologie, Hopital Saint-Louis, Paris (France); Bugnet, Emmanuelle; Lorillon, Gwenael [Assistance Publique-Hopitaux de Paris, Centre National de Reference de l' Histiocytose Langerhansienne, Service de Pneumologie, Hopital Saint-Louis, Paris (France); Chevret, Sylvie [Universite Paris Diderot, Paris (France); Assistance Publique-Hopitaux de Paris, Service de Biostatistique et Information Medicale, Hopital Saint-Louis, Paris (France); Biostatistics and Clinical Epidemiology Research Team, U1153 CRESS, Paris (France); Tazi, Abdellatif [Universite Paris Diderot, Paris (France); Assistance Publique-Hopitaux de Paris, Centre National de Reference de l' Histiocytose Langerhansienne, Service de Pneumologie, Hopital Saint-Louis, Paris (France); Biostatistics and Clinical Epidemiology Research Team, U1153 CRESS, Paris (France)

    2017-04-15

    The standard evaluation of multisystem Langerhans cell histiocytosis (LCH) includes a clinical evaluation, laboratory tests and a skeleton/skull X-ray survey, with chest high-resolution computed tomography (HRCT) in the case of pulmonary involvement. Preliminary reports suggest that {sup 18}F-fluorodeoxyglucose positron emission tomography-computed tomography ({sup 18}F-FDG PET-CT) may be useful for evaluating patients with LCH. Fourteen consecutive adult patients with multisystem LCH were included in this retrospective study, and were evaluated using standard procedures and {sup 18}F-FDG PET-CT. The two sets of findings were compared both at baseline and during follow-up. Serial HRCT and pulmonary function tests were used to evaluate outcome in patients with lung involvement. At the baseline evaluation, PET-CT identified every LCH localization found with the standard evaluation (except a mild cecum infiltration). PET-CT showed additional lesions in seven patients, mostly involving bones, and differentiated inactive from active lesions. Thyroid {sup 18}F-FDG uptake was identified in three cases. No pituitary stalk {sup 18}F-FDG uptake was observed in patients with pituitary LCH. Only 3/12 (25 %) patients with pulmonary LCH displayed moderate pulmonary {sup 18}F-FDG uptake. During follow-up, variations (≥50 % of maximum standardized uptake) in bone {sup 18}F-FDG uptake intensity were correlated with disease state and response to treatment. The absence of lung {sup 18}F-FDG uptake did not preclude lung function improvement after treatment. Except for cases with pulmonary and pituitary involvement, {sup 18}F-FDG PET-CT could replace the standard evaluation for staging of adult patients with multisystem LCH. Serial PET-CT scans are useful for evaluating treatment responses, particularly in cases with bone LCH involvement. (orig.)

  4. An unusual case of adult-onset multi-systemic Langerhans cell histiocytosis with perianal and incident thyroid involvement

    Directory of Open Access Journals (Sweden)

    Ozen Oz Gul

    2017-02-01

    Full Text Available Langerhans cell histiocytosis (LCH is a rare sporadic disease characterized by histiocytic neoplastic infiltration of various organ systems and a wide spectrum of clinical manifestations, ranging from benign and self-limiting to lethal. Herein, we report a rare case of adult-onset multi-systemic LCH in a 36-year-old male patient with an initial perianal presentation and incidental finding of subsequent thyroid gland involvement in the follow-up period. The patient with a history of perianal LCH treated with surgical excision and local radiotherapy was referred to our Endocrinology Department upon detection of hypermetabolic nodular lesions in the left lateral lobe of thyroid gland on positron emission tomography–computed tomography (PET/CT scan in the nineth month of follow-up. Current evaluation revealed euthyroid status, a hypoechoic solid lesion of 13 × 9 mm in size with irregular borders in the left thyroid lobe on thyroid USG and cytologic assessment of thyroid nodule. The patient was diagnosed with suspected, oncocytic lesion, Hashimoto thyroiditis or LCH. The patient underwent total thyroidectomy and pathological assessment confirmed the diagnosis of Langerhans cell histiocytosis. Assessments in the sixth month of postoperative follow-up revealed euthyroid status with no thyroid tissue remnants or pathological lymph node on thyroid USG. In view of the multifocal lesions indicating multi-system disease, a systemic chemotherapy protocol with combination of prednisone (PRED and vinblastine (VBL has been planned by the hematology department.

  5. Paternal involvement in Multisystemic Therapy: Effects on adolescent outcomes and maternal depression

    NARCIS (Netherlands)

    Gervan, S.; Granic, I.; Solomon, T.; Blokland, K.; Ferguson, B.

    2012-01-01

    The association between paternal involvement in therapy, adolescent outcomes and maternal depression was examined within the context of Multisystemic Therapy (MST), an empirically supported, family- and community-based treatment for antisocial adolescents. Ninety-nine families were recruited from

  6. Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome

    DEFF Research Database (Denmark)

    Moller, Hans Ulrik; Fledelius, Hans C; Milewicz, Dianna M

    2012-01-01

    A de novo mutation of the ACTA2 gene encoding the smooth muscle cell α-actin has been established in patients with multisystemic smooth muscle dysfunction syndrome associated with patent ductus arteriosus and mydriasis present at birth....

  7. An Evaluation of Multisystemic Therapy with Australian Families.

    Science.gov (United States)

    Porter, Mark; Nuntavisit, Leartluk

    2016-12-01

    This study aims to evaluate the effectiveness of the Multisystemic Therapy (MST) intervention for Australian families invloved with the Specialist Child and Adolescent Mental Health Service (CAMHS). This program was implemented within the Western Australian Department of Health in 2005, and has continually operated two small clinical teams within the Perth metropolitan area since then. This intervention was specifically chosen to improve service access, engagement, and intervention with vulnerable families having young persons with a history of significant and enduring behavioural problems. The study reports on data collected from July 2007 to July 2013 which includes baseline, post-treatment, 6-month, and 12-month follow-up. There were 153 MST families participating in the research at all time points (71% male; 11% Australian Aboriginal; average youth age was 13.6 years). Caregivers completed a set of questionnaires including Child Behaviour Checklist, Parenting Styles and Dimensions Questionnaire, and Depression, Anxiety and Stress Scale. One-way repeated measure ANOVA were used to measure changes over time. Significant caregiver-reported improvements in all measures were reported at post-treatment, and most improvements were maintained at the follow-up periods of 6 and 12 months post-intervention. These preliminary outcomes demonstrate that the 4-5 month MST intervention significantly reduces behavioural problems and emotional difficulties in young Australians and these improvements are generally maintained by caregivers over time. Primary caregivers reported improved skills and mental health functioning that were also maintained over the follow-up period. A proposed randomised controlled trial of the program will address potential placebo and selection bias effects.

  8. Organizando el aula infantil

    Directory of Open Access Journals (Sweden)

    María Luisa GARCÍA RODRÍGUEZ

    2009-11-01

    Full Text Available RESUMEN: La organización del aula es una importante "herramienta" en manos de la educadora o el educador, especialmente en las primeras edades. En consecuencia, es necesario poner todo el cuidado y atención posibles para conseguir un ambiente, a la vez agradable y práctico, que favorezca la vida y el aprendizaje de los niños y niñas de cero a seis años. Al principio de cada curso escolar se planificarán los aspectos físicos del aula, se organizarán los materiales y se distribuirá el tiempo. Para ello, deberán ser tenidas en cuenta las necesidades infantiles y los ámbitos madurativos en los que cada niña y cada niño deben progresar.ABSTRACT: The organization of the classroom is an important "tool" in the hands of the educator, especially during the early years. Consequently, it is necessary to take great care and give as much attention as possible to achieving an environment which is both pleasant and practical, as well as favourable to the lives and learning of children under six years of age. At the beginning of the school year the physical aspects of the classroom will be planned, the material organized and time distributed. For this purpose, the needs of the children, and the areas in which each child should advance and mature, must be taken into account.

  9. Hiperostosis cortical infantil

    Directory of Open Access Journals (Sweden)

    Salvador Javier Santos Medina

    2015-04-01

    Full Text Available La enfermedad de Caffey, o hiperostosis cortical infantil, es una rara enfermedad ósea autolimitada, que aparece de preferencia en lactantes con signos inespecíficos sistémicos; el más relevante es la reacción subperióstica e hiperostosis en varios huesos del cuerpo, con predilección en el 75-80 % de los casos por la mandíbula. Su pronóstico es bueno, la mayoría no deja secuelas. El propósito del presente trabajo es describir las características clínicas, presentes en un lactante de cinco meses de edad, atendido en el Hospital Pediátrico Provincial “Mártires de Las Tunas” con este diagnóstico, quien ingresó en el servicio de miscelánea B por una celulitis facial. Presentaba aumento de volumen en la región geniana izquierda, febrícola e inapetencia. Se impuso tratamiento con cefazolina y se egresó a los siete días. Acudió nuevamente con tumefacción blanda y difusa de ambas hemicaras, irritabilidad y fiebre. Se interconsultó con cirugía maxilofacial, se indicaron estudios sanguíneos y radiológicos. Se diagnosticó como enfermedad de Caffey, basado en la edad del niño, tumefacción facial sin signos inflamatorios agudos e hiperostosis en ambas corticales mandibulares a la radiografía AP mandíbula; unido a anemia ligera, leucocitosis y eritrosedimentación acelerada. El paciente se trató sintomáticamente y con antinflamatorios no esteroideos. Esta rara entidad se debe tener presente en casos de niños y lactantes con irritabilidad y fiebre inespecífica

  10. Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutation.

    NARCIS (Netherlands)

    Okhuijsen-Kroes, E.J.; Trijbels, J.M.F.; Sengers, R.C.A.; Mariman, E.C.M.; Heuvel, L.P.W.J. van den; Wendel, U.A.H.; Koch, G.; Smeitink, J.A.M.

    2001-01-01

    Mitochondrial DNA (mtDNA) disorders are clinically very heterogeneous, ranging from single organ involvement to severe multisystem disease. One of the most frequently observed mtDNA mutations is the A-to-G transition at position 3243 of the tRNA(Leu (UUR)) gene. This mutation is often related to

  11. [Spanish consensus on infantile haemangioma].

    Science.gov (United States)

    Baselga Torres, Eulalia; Bernabéu Wittel, José; van Esso Arbolave, Diego L; Febrer Bosch, María Isabel; Carrasco Sanz, Ángel; de Lucas Laguna, Raúl; Del Pozo Losada, Jesús; Hernández Martín, Ángela; Jiménez Montañés, Lorenzo; López Gutiérrez, Juan Carlos; Martín-Santiago, Ana; Redondo Bellón, Pedro; Ruíz-Canela Cáceres, Juan; Torrelo Fernández, Antonio; Vera Casaño, Ángel; Vicente Villa, María Asunción

    2016-11-01

    Infantile haemangiomas are benign tumours produced by the proliferation of endothelial cells of blood vessels, with a high incidence in children under the age of one year (4-10%). It is estimated that 12% of them require treatment. This treatment must be administered according to clinical practice guidelines, expert experience, patient characteristics and parent preferences. The consensus process was performed by using scientific evidence on the diagnosis and treatment of infantile haemangiomas, culled from a systematic review of the literature, together with specialist expert opinions. The recommendations issued were validated by the specialists, who also provided their level of agreement. This document contains recommendations on the classification, associations, complications, diagnosis, treatment, and follow-up of patients with infantile haemangioma. It also includes action algorithms, and addresses multidisciplinary management and referral criteria between the different specialities involved in the clinical management of this type of patient. The recommendations and the diagnostic and therapeutic algorithms of infantile haemangiomas contained in this document are a useful tool for the proper management of these patients. Copyright © 2015 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  12. Infantile nystagmus and visual deprivation

    DEFF Research Database (Denmark)

    Fledelius, Hans C; Jensen, Hanne

    2014-01-01

    PURPOSE: To evaluate whether effects of early foveal motor instability due to infantile nystagmus might compare to those of experimental visual deprivation on refraction in a childhood series. METHODS: This was a retrospective analysis of data from the Danish Register for Blind and Weaksighted Ch...

  13. Manipulative therapies for infantile colic

    NARCIS (Netherlands)

    Dobson, D.; Lucassen, P.L.; Miller, J.J.; Vlieger, A.M.; Prescott, P.; Lewith, G.

    2012-01-01

    BACKGROUND: Infantile colic is a common disorder, affecting around one in six families, and in 2001 was reported to cost the UK National Health Service in excess of pound65 million per year (Morris 2001). Although it usually remits by six months of age, there is some evidence of longer-term sequelae

  14. Infantile choriocarcinoma: a case report with MRI, angiography and bone scintigraphy

    International Nuclear Information System (INIS)

    Sashi, R.; Sato, K.; Hirano, H.; Tomura, N.; Watarai, J.; Ishida, A.; Morita, M.

    1996-01-01

    Infantile and maternal choriocarcinoma is a very rare disease. We report a case with the characteristic clinical features of infantile choriocarcinoma: developing anemia, hemorrhagic liver tumors, rapid progression to death and maternal choriocarcinoma. Bone scintigraphy showed increased uptake by the liver tumors. In this case there were two possible primary sites: the placenta of this pregnancy and a hydatidiform mole that had been present 2 years previously. (orig.). With 1 fig

  15. Multisystem Langerhans cell histiocytosis coexisting with metastasizing adenocarcinoma of the lung: A case report

    Directory of Open Access Journals (Sweden)

    Lovrenski Aleksandra

    2013-01-01

    Full Text Available Introduction. Langerhans cell histiocytosis (LCH is an uncommon disease of unknown etiology characterized by uncontrolled proliferation and infiltration of various organs by Langerhans cells. Case report. We presented a 54-year-old man, heavy smoker, with dyspnea, cough, hemoptysis, headache and ataxia, who died shortly after admission to our hospital. On the autopsy, tumor was found in the posterior segment of the right upper pulmonary lobe as well as a right-sided occipitoparietal lesion which penetrated into the right ventricle resulting in internal and external hematocephalus. Histologically and immunohistohemically, the diagnosis of primary lung adenocarcinoma with brain metastasis was made (tumor cells showed positivity for CK7 and TTF-1 which confirmed the diagnosis. In the lung parenchyma around the tumor, as well as in brain tissue around the metastatic adenocarcinoma histiocytic lesions were found. Light microscopic examination of the other organs also showed histiocytic lesions involving the pituitary gland, hypothalamus, spleen and mediastinal lymph nodes. Immunohistochemical studies revealed CD68, S-100 and CD1a immunoreactivity within the histiocytes upon which the diagnosis of Langerhans' cells histiocytosis was made. Conclusion. The multisystem form of LCH with extensive organ involvement was an incidental finding, while metastatic lung adenocarcinoma to the brain that led to hematocephalus was the cause of death.

  16. Chanarin-Dorfman Syndrome with Multi-System Involvement in Two Siblings

    Directory of Open Access Journals (Sweden)

    Seçil Arslansoyu Çamlar

    2013-03-01

    Full Text Available Chanarin-Dorfman syndrome (CDS is a very rare autosomal recessive inherited neutral lipid metabolism disorder associated with congenital ichthyosis and multi-system involvement. Observation of lipid vacuoles in neutrophils (Jordan’s anomaly in peripheral blood smears in patients with ichthyosiform erythroderma is diagnostic. Herein we present 2 siblings with CDS that were referred to Dokuz Eylul University School of Medicine Department of Pediatrics due to ichthyosis. They had hepatomegaly, cataract, growth retardation, and sensorineural hearing loss. Some lipid vacuoles in neutrophils were noted in peripheral blood smear evaluation. Genetic analysis showed homozygous N209X mutation in both patients. They were put on a low-fat high-carbohydrate diet supplemented with medium-chain fatty acids. During 6 months of follow-up, no improvement was observed in both patients. In conclusion, although CDS is a rare lipid storage disease, it should always be a consideration in patients with congenital ichthyosis, especially those with extracutaneous symptoms or signs. The diagnosis of CDS is made based on a very simple test-peripheral blood smear.

  17. Quantitative analysis of infantile ureteropelvic junction obstruction by diuretic renography

    International Nuclear Information System (INIS)

    Ueno, Shigeru; Suzuki, Yutaka; Murakami, Takeshi; Yokoyama, Seishichi; Hirakawa, Hitoshi; Tajima, Tomoo; Makuuchi, Hiroyasu

    2001-01-01

    Infantile hydronephrosis detected by ultrasonography poses a clinical dilemma on how to treat the condition. This article reports a retrospective study to evaluate infantile hydronephrosis due to suspected ureteropelvic junction (UPJ) obstruction by means of standardized diuretic renography and to speculate its usefulness for quantitative assessment and management of this condition. Between November 1992 and July 1999, 43 patients who had the disease detected in their fetal or infantile period were submitted to this study. Standardized diuretic renograms were obtained with 99m Tc-labeled diethylene-triaminepenta-acetate (Tc-99m-DTPA) or 99m Tc-labeled mercaptoacetyl triglycine (Tc-99m-MAG3) as radiopharmaceuticals. Drainage half-time clearance (T 1/2) of the activity at each region of interest set to encompass the entire kidney and the dilated pelvis was used as an index of quantitative analysis of UPJ obstruction. Initial T 1/2s of 32 kidneys with suspected UPJ obstruction were significantly longer than those of 37 without obstruction. T 1/2s of kidneys which had undergone pyeloplasty decreased promptly after surgery whereas those of units followed up without surgery decreased more sluggishly. These findings demonstrate that a standardized diuretic renographic analysis with T 1/2 can reliably assess infantile hydronephrosis with UPJ obstruction and be helpful in making a decision on surgical intervention. (author)

  18. Quantitative analysis of infantile ureteropelvic junction obstruction by diuretic renography

    Energy Technology Data Exchange (ETDEWEB)

    Ueno, Shigeru; Suzuki, Yutaka; Murakami, Takeshi; Yokoyama, Seishichi; Hirakawa, Hitoshi; Tajima, Tomoo; Makuuchi, Hiroyasu [Tokai Univ., Isehara, Kanagawa (Japan). School of Medicine

    2001-04-01

    Infantile hydronephrosis detected by ultrasonography poses a clinical dilemma on how to treat the condition. This article reports a retrospective study to evaluate infantile hydronephrosis due to suspected ureteropelvic junction (UPJ) obstruction by means of standardized diuretic renography and to speculate its usefulness for quantitative assessment and management of this condition. Between November 1992 and July 1999, 43 patients who had the disease detected in their fetal or infantile period were submitted to this study. Standardized diuretic renograms were obtained with {sup 99m}Tc-labeled diethylene-triaminepenta-acetate (Tc-99m-DTPA) or {sup 99m}Tc-labeled mercaptoacetyl triglycine (Tc-99m-MAG3) as radiopharmaceuticals. Drainage half-time clearance (T 1/2) of the activity at each region of interest set to encompass the entire kidney and the dilated pelvis was used as an index of quantitative analysis of UPJ obstruction. Initial T 1/2s of 32 kidneys with suspected UPJ obstruction were significantly longer than those of 37 without obstruction. T 1/2s of kidneys which had undergone pyeloplasty decreased promptly after surgery whereas those of units followed up without surgery decreased more sluggishly. These findings demonstrate that a standardized diuretic renographic analysis with T 1/2 can reliably assess infantile hydronephrosis with UPJ obstruction and be helpful in making a decision on surgical intervention. (author)

  19. Gemfibrozil and fenofibrate, Food and Drug Administration-approved lipid-lowering drugs, up-regulate tripeptidyl-peptidase 1 in brain cells via peroxisome proliferator-activated receptor α: implications for late infantile Batten disease therapy.

    Science.gov (United States)

    Ghosh, Arunava; Corbett, Grant T; Gonzalez, Frank J; Pahan, Kalipada

    2012-11-09

    The classical late infantile neuronal ceroid lipofuscinosis (LINCLs) is an autosomal recessive disease, where the defective gene is Cln2, encoding tripeptidyl-peptidase I (TPP1). At the molecular level, LINCL is caused by accumulation of autofluorescent storage materials in neurons and other cell types. Currently, there is no established treatment for this fatal disease. This study reveals a novel use of gemfibrozil and fenofibrate, Food and Drug Administration-approved lipid-lowering drugs, in up-regulating TPP1 in brain cells. Both gemfibrozil and fenofibrate up-regulated mRNA, protein, and enzymatic activity of TPP1 in primary mouse neurons and astrocytes as well as human astrocytes and neuronal cells. Because gemfibrozil and fenofibrate are known to activate peroxisome proliferator-activated receptor-α (PPARα), the role of PPARα in gemfibrozil- and fenofibrate-mediated up-regulation of TPP1 was investigated revealing that both drugs up-regulated TPP1 mRNA, protein, and enzymatic activity both in vitro and in vivo in wild type (WT) and PPARβ(-/-), but not PPARα(-/-), mice. In an attempt to delineate the mechanism of TPP1 up-regulation, it was found that the effects of the fibrate drugs were abrogated in the absence of retinoid X receptor-α (RXRα), a molecule known to form a heterodimer with PPARα. Accordingly, all-trans-retinoic acid, alone or together with gemfibrozil, up-regulated TPP1. Co-immunoprecipitation and ChIP studies revealed the formation of a PPARα/RXRα heterodimer and binding of the heterodimer to an RXR-binding site on the Cln2 promoter. Together, this study demonstrates a unique mechanism for the up-regulation of TPP1 by fibrate drugs via PPARα/RXRα pathway.

  20. Neonatal and infantile acne vulgaris: an update.

    Science.gov (United States)

    Serna-Tamayo, Cristian; Janniger, Camila K; Micali, Giuseppe; Schwartz, Robert A

    2014-07-01

    Acne may present in neonates, infants, and small children. Neonatal and infantile acne vulgaris are not considered to be rare. The presentation of acne in this patient population sometimes represents virilization and may portend later development of severe adolescent acne. Neonatal and infantile acne vulgaris must be distinguished from other cutaneous disorders seen in newborns and infants. Infantile acne tends to be more pleomorphic and inflammatory, thus requiring more vigorous therapy than neonatal acne.

  1. Infantile cystinosis: From dialysis to renal transplantation

    Directory of Open Access Journals (Sweden)

    Manel Jellouli

    2017-01-01

    Full Text Available Cystinosis is an autosomal recessive, lysosomal storage disease characterised by the accumulation of the amino acid cystine in different organs and tissues. It is a multisystemic disease that can present with renal and extra-renal manifestations. In this report, we present the first case of transplanted nephropathic cystinosis in a Tunisian child. A 4-year-old Tunisian boy born to nonconsanguineous parents, was treated in our medical services in 1990 for cystinosis. Since the age of five months, he developed symptoms of severe weight loss, vomiting, dehydration, and polyuria. He manifested the Toni Debré Fanconi syndrome. Slit lamp examination of the anterior segment of both eyes revealed fine, shiny crystal-like deposits diffusely distributed in the corneal epithelium and the stroma. Our patient had renal failure. At the age of seven, he reached terminal chronic renal failure and was treated with peritoneal dialysis. Hemodialysis was started at the age of nine years. At the age of 13 years, he received a renal transplantation and was started on cysteamine 1999, five months after the renal transplantation. Currently, the patient is 28-year-old. The graft has survived 15 years after the transplantation. Renal functions were stable with a serum creatinine of 123 μmol/L at last follow-up.

  2. Infantile acne treated with oral isotretinoin

    DEFF Research Database (Denmark)

    Miller, Iben Marie; Echeverría, Begoña; Torrelo, Antonio

    2013-01-01

    In contrast to adolescent acne, infantile acne (IA) is a rare condition with only a limited body of available literature. In this descriptive, retrospective study, we reviewed six cases from 2002 to 2010 treated with oral isotretinoin. The average age of onset was 6.16 months (range 0-21 mos......). Consistent with the previous, limited literature, we found predominantly boys are affected, a predilection for the cheeks, and a polymorphic inflammatory morphology. Two patients had a family history of acne. All cases were successfully and safely treated with oral isotretinoin. The suggested treatment...... of childhood acne is similar to that of adolescents (graded according to the severity of the skin disease and risk of scarring). Oral isotretinoin appears to be an effective and safe treatment for severe IA....

  3. Infantile fibrosarcoma: radiological and clinical features

    International Nuclear Information System (INIS)

    Vinnicombe, S.J.; Hall, C.M.

    1994-01-01

    Two cases of infantile fibrosarcoma are described. This rare childhood malignancy of mesodermal origin usually affects the lower limbs, as it did in both of our cases. Previously, the only treatment option available involved some form of radical and often mutilating surgery. More recently, combination chemotherapy has given good results, with the effect that various imaging modalities have become important in assessing both the initial extent of disease and the response to treatment. Computed tomography has the advantage of demonstrating the amount of osseous involvement, but at the expense of a considerable dose of ionizing radiation. On the other hand, magnetic resonance imaging, with its multiplanar capacity, gives superior demonstration of breaching of tissue planes, which has important implications for planning of surgery. However, as in other soft tissue tumours, changes in signal characteristics with treatment have proved less specific than was originally anticipated. (orig.)

  4. Infantile masturbation and paroxysmal disorders.

    Science.gov (United States)

    Omran, Mohammadreza Salehi; Ghofrani, Mohammad; Juibary, Ali Ghabeli

    2008-02-01

    A recurrent paroxysmal presentation in children leads to different diagnoses and among them are neurologic and cardiac etiologies. Infantile masturbation is not a well known entity and cannot be differentiated easily from other disorders. Aim of this study is to elucidate and differentiate this condition from epileptic seizures. We report 3 cases of 10 to 30 mth old girls of infantile masturbation that their symptoms initiated at 2, 3 and 8 mth of age. These present with contraction and extension of lower extremities, scissoring of legs, perspiration, changing face color. In 2 cases body rocking and legs rubbing initiated then there after. Masturbation is one of the paroxysmal non-epileptic conditions of early infancy and is in differential diagnosis of epileptic seizures.

  5. Interdisciplinary management of infantile colic

    Directory of Open Access Journals (Sweden)

    Luis Miguel Becerra-Granados

    2017-07-01

    This article presents a structural review of evidence on the fundamentals and progress in the treatment of infantile colic, and compiles the characteristics of this pathology, the medical and nutritional therapeutic measures, the clinical approach and the techniques to help the patient and his family. This study seeks to provide technical tools to health professionals whose target population is children younger than 2 years of age.

  6. Imaging feature of infratentorial desmoplastic infantile and non-infantile tumors

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Hyun Gi; Lee, Seung Koo [Dept. of Radiology and Research Institute of Radiological Science, Severance Children' s Hospital, Yonsei University College of Medicine, Seoul (Korea, Republic of); Kim, Se Hoon [Dept. of Pathology, Yonsei University College of Medicine, Severance Hospital, Seoul (Korea, Republic of)

    2016-07-15

    To describe imaging features of infratentorial desmoplastic infantile or non-infantile tumors (DIT/DNIT). Four cases with infratentorial DIT/DNIT from our hospital and 5 cases from literature review were analyzed. Clinical data and MR imaging features were evaluated including location, size, shape, margin, composition, dural attachment, perilesional edema, and metastasis or multiplicity. The mean age was 9.2 years (range, 1-18 years). Most of the patients presented with headache or vomiting (4/9, 44.4%) and had no underlying disease (8/9, 88.9%). The major pathologic subtype was astrocytoma (6/9, 66.7%). On MR, majority of the tumors involved cerebellum and/or spinal cord (8/9, 88.9%) and the mean size of the tumors was 4.2 cm (range, 3.2-5 cm). The tumors were mainly solid (4/9, 44.4%) or mixed (4/9, 44.4%) in composition with lobulated shape (7/9, 77.8%) and well-defined margin (7/9, 77.8%). Two cases (2/7, 28.6%) showed dural attachment and all the cases had no or minimal perilesional edema (100%). Metastasis or multiplicity was frequently seen in 44.4% (4/9). Infratentorial DIT/DNIT occurred in relatively older children and the major tumor type was astrocytoma. They also had atypical imaging features showing mainly solid or mixed in composition with frequent metastasis or multiplicity.

  7. Melding Infant Mental Health and Multisystemic Therapy Approaches to Community-Based Treatment

    Science.gov (United States)

    Willoughby, Jay C.; Carubia, Beau A.; Murgolo, Marisa A.; Carter, Debbie R.; Frankel, Karen A.

    2013-01-01

    A recent partnership between the Irving Harris Program in Child Development and Infant Mental Health and the Community Based Psychiatry Program at University of Colorado Hospital joined two different approaches to child mental health treatment: infant mental health and multisystemic therapy (MST). This article illustrates the compatibility of…

  8. Ethnic Similarity, Therapist Adherence, and Long-Term Multisystemic Therapy Outcomes

    Science.gov (United States)

    Chapman, Jason E.; Schoenwald, Sonja K.

    2011-01-01

    The current study investigated relations among ethnic similarity in caregiver-therapist pairs of youth participating in Multisystemic Therapy, therapist adherence, and youth long-term behavioral and criminal outcomes. Participants were 1,979 youth and families treated by 429 therapists across provider organizations in 45 sites. Relations were…

  9. Multisystemic Therapy for Child Non-Externalizing Psychological and Health Problems: A Preliminary Review

    Science.gov (United States)

    Pane, Heather T.; White, Rachel S.; Nadorff, Michael R.; Grills-Taquechel, Amie; Stanley, Melinda A.

    2013-01-01

    Multisystemic therapy (MST) is effective for decreasing or preventing delinquency and other externalizing behaviors and increasing prosocial or adaptive behaviors. The purpose of this project was to review the literature examining the efficacy of MST for other child psychological and health problems reflecting non-externalizing behaviors,…

  10. We Are, Therefore I Am: A Multisystems Approach with Families in Poverty.

    Science.gov (United States)

    Brown, Shunda L.

    2002-01-01

    Although many individuals living in poverty are referred for family counseling services via schools, court systems, and social service agencies, theories have failed to provide an adequate framework for treatment. This article addresses the common principles of the multisystems approach and feminist family therapies and how they can be applied in…

  11. Paternal Involvement in Multisystemic Therapy: Effects on Adolescent Outcomes and Maternal Depression

    Science.gov (United States)

    Gervan, Shannon; Granic, Isabela; Solomon, Tracy; Blokland, Kirsten; Ferguson, Bruce

    2012-01-01

    The association between paternal involvement in therapy, adolescent outcomes and maternal depression was examined within the context of Multisystemic Therapy (MST), an empirically supported, family- and community-based treatment for antisocial adolescents. Ninety-nine families were recruited from five mental health agencies providing MST. We…

  12. Infantile spasms: A prognostic evaluation

    Directory of Open Access Journals (Sweden)

    Mary Iype

    2016-01-01

    Full Text Available Background: Few papers address the comprehensive prognosis in infantile spasms and look into the seizure profile and psychomotor outcome. Objective: We aimed to follow up children with infantile spasms to study: a the etiology, demographics, semiology, electroencephalogram (EEG, and radiological pattern; b seizure control, psychomotor development, and EEG resolution with treatment; c the effects of various factors on the control of spasms, resolution of EEG changes, and psychomotor development at 3-year follow-up. Materials and Methods: Fifty newly diagnosed cases with a 1-12 month age of onset and who had hypsarrhythmia in their EEG were recruited and 43 were followed up for 3 years. Results: Of the children followed up, 51% were seizure-free and 37% had a normal EEG at the 3-year follow-up. Autistic features were seen in 74% of the children. Only 22.7% among the seizure-free (11.6% of the total children had normal vision and hearing, speech with narration, writing skills, gross and fine motor development, and no autism or hyperactivity. On multivariate analysis, two factors could predict bad seizure outcome — the occurrence of other seizures in addition to infantile spasms and no response to 28 days of adrenocorticotropic hormone (ACTH. No predictor could be identified for abnormal psychomotor development. Discussion and Conclusion: In our study, we could demonstrate two factors that predict seizure freedom. The cognitive outcome and seizure control in this group of children are comparable to the existing literature. However, the cognitive outcome revealed by our study and the survey of the literature are discouraging.

  13. Alcoholism: A Multi-Systemic Cellular Insult to Organs

    Directory of Open Access Journals (Sweden)

    Ucee Dguzeh

    2018-05-01

    Full Text Available Alcohol abuse can affect more than the heart and the liver. Many observers often do not appreciate the complex and differing aspects of alcohol’s effects in pathophysiologies that have been reported in multiple organs. Chronic alcohol abuse is known to be associated with pathophysiological changes that often result in life-threatening clinical outcomes, e.g., breast and colon cancer, pancreatic disease, cirrhosis of the liver, diabetes, osteoporosis, arthritis, kidney disease, immune system dysfunction, hypertension, coronary artery disease, cardiomyopathy, and can be as far-reaching as to cause central nervous system disorders. In this review article, we will discuss the various organs impacted by alcohol abuse. The lack of clear guidelines on the amount and frequency of alcohol intake, complicated by personal demographics, make extrapolations to real-life practices at best difficult for public health policy-makers.

  14. Modifiers and mechanisms of multi-system polyglutamine ...

    Indian Academy of Sciences (India)

    case of polyQ repeat disorders such as HD (reviewed in Lutz. 2007). The different .... saccades, h ypertrophic cardiomyopath y, diabetes mellitus. Campuzano et al . (1996), ...... serine–threonine kinase Akt which phosphorylates mutant huntingtin at ...... systematic analysis of human disease-associated gene sequences.

  15. Infantile Feeding Difficulties

    Directory of Open Access Journals (Sweden)

    Laura C. McCarthy DO

    2014-10-01

    Full Text Available Background. Gastric volvulus refers to a torsion of all or part of the stomach that may cause an obstruction of the foregut. The clinical symptoms of gastric volvulus range from asymptomatic to life-threatening and thus must be rapidly diagnosed. However, the presenting symptoms of gastric volvulus vary widely, which may cause diagnosis to be delayed or missed. Objective. Describe varying presentations of gastric volvulus (including a case report of a rare presentation, pathophysiology of the entity, and how to diagnose/treat the phenomenon. Design/Method. Article review and case presentation. Results. Our patient was taken to the operating room for a gastropexy and G-tube placement. During surgery, the stomach was redundant and large, but not currently torsed, consistent with intermittent organoaxial volvulus. There are several approaches to classifying gastric volvulus as well as different theories on how to treat the volvulus based on type and degree of rotation that this article aims to detail more thoroughly. Conclusion. There are a growing number of case reports describing gastric volvulus, which had historically been viewed as a rare finding. The presenting symptoms of gastric volvulus commonly mimic other, more benign newborn diagnoses, and thus can be difficult to diagnose. We present our patient as well as an article review of other cases to highlight the diverse presentations of gastric volvulus so this potentially devastating disease can be diagnosed quickly with prompt treatment initiation.

  16. VIOLENCIA FAMILIAR Y MALTRATO INFANTIL

    Directory of Open Access Journals (Sweden)

    María Inés Bringiotti

    2005-01-01

    Full Text Available Este trabajo analiza las implicaciones del concepto "familia" señalando la multiplicidad de fenómenos y situaciones incluidos en el mismo. Su elucidación permitirá determinar los diversos tipos de familia y de riesgo que podemos encontrar en nuestro trabajo cotidiano. La evolución de ese concepto está directamente influida por las determinantes socioestructurales y culturales que en cada momento histórico contextualizan a los sujetos, así como las posibles situaciones de riesgo que deben enfrentar y los recursos con los que cuentan. Se analiza la influencia de las representaciones acerca de cómo debe ser una familia, en la actualidad las familias presentan diferentes formas o estructuras y ello no implica el cumplimiento o no de sus funciones. Esto permitirá establecer adecuadamente las diferentes estrategias de prevención y abordaje aplicables a cada situación. Se ejemplificará concretamente con situaciones problemáticas relacionados a los casos de violencia familiar y maltrato infantil, concretamente con la negligencia y el abuso sexual infantil.

  17. Desmoplastic infantile ganglioglioma : a case report

    Energy Technology Data Exchange (ETDEWEB)

    Park, Won Kyu; Byun, Woo Mok; Kim, Dong Suk [Yeungnam Univ. School of Medicine, Kyongsan (Korea, Republic of)

    1999-05-01

    Desmoplastic infantile ganglioglioma is an uncommon variety of ganglioglioma that shows evidence of glial and ganglionic differentiation accompanied by an extreme desmoplastic reaction. A 16-month-old girl was admitted with a six-day history of left hemiparesis. MR imaging demonstrated a large multiseptated cystic mass, with a solid portion, in the white matter of the right frontotemporoparietal lobe. After contrast injections, the solid portion was clearly enhanced. The presence of desmoplastic infantile ganglioglioma was confirmed by surgical resection. We describe the characteristic radiologic and pathologic features of desmoplastic infantile ganglioglioma, and include a review of the literature.

  18. Salud y mortalidad infantil en Brasil

    OpenAIRE

    Denisard Alves; Walter Belluzzo

    2005-01-01

    (Disponible en idioma inglés únicamente) La salud infantil es un aspecto fundamental del programa de políticas públicas de los países en desarrollo. A lo largo de los años se han puesto en práctica numerosas políticas destinadas al mejoramiento de la salud infantil, con diversos grados de éxito. En Brasil, dichas políticas han llevado a una disminución considerable de los niveles de mortalidad infantil durante los últimos 30 años. Sin embargo, a pesar de esa mejora, las tasas de mortalidad si...

  19. Birth Weight, Gestational Age, and Infantile Colic

    DEFF Research Database (Denmark)

    Milidou, Ioanna; Søndregaard, Charlotte; Jensen, Morten Søndergaard

    Background Infantile colic is a condition of unknown origin characterized by paroxysms of crying during the first months of life. A few studies have identified low birth weight (BW) as a risk factor among infants born at term, while the association between gestational age (GA) and infantile colic...... interviews of the mother during pregnancy and post partum. Adjusted odds ratios (OR) with 95% confidence intervals (in brackets) are presented. Infantile colic was defined as crying for more than three hours per day and for more than three days per week (modified Wessel’s criteria). Results A total of 4...... with GA gestational weeks 32-40. Finally, after adjusting for GA...

  20. Disease: H01600 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H01600 Parkinsonian syndrome Parkinsonian syndromes (PS) are multisystemic disease...6 (description, drug) ... AUTHORS ... Williams DR, Litvan I ... TITLE ... Parkinsonian ...MID:15033141 (description) ... AUTHORS ... Pezzoli G, Canesi M, Galli C ... TITLE ... An overview of parkinsonian

  1. Linear Nevus Sebaceum Syndrome and Infantile Spasms

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2008-03-01

    Full Text Available Two infants with linear nevus sebaceum syndrome and infantile spasms are reported from Safra Childrens Hospital, Sheba Medical Center, Tel Hashomer, Israel; and Hospital for Sick Children, Toronto, Canada.

  2. Significados culturais da asma infantil Cultural meanings of the infantile asthma

    Directory of Open Access Journals (Sweden)

    Mirna Albuquerque Frota

    2008-06-01

    caretaking and they use resources of popular knowledge to prevent their children's asthma, such as environmental care and the use of popular remedies, based on medicinal plants. CONCLUSIONS: The disinformation and lack of maternal knowledge on infantile asthma among the mothers indicate the need for an intense educational program, problematizing in nature and based on dialogue, conducted in close collaboration with the treatment aimed at improving the prognosis of the disease.

  3. Endemic characteristics of infantile visceral leishmaniasis in the People’s Republic of China

    Science.gov (United States)

    2013-01-01

    Background Visceral leishmaniasis (VL) was once a severe parasitic disease in China. Thanks to the great efforts of integrated control, VL was eliminated in most epidemic areas, except for certain western provinces (autonomous region) at the end of 1950s. From then on, VL gained less attention and has seemed to spread, especially in the last 15 years. Infants are the most important population threatened by VL. However, there have been few studies on the endemic characteristics of infantile VL in China. Methods Infantile VL cases were collected from the online National Infectious Diseases Reporting System (NIDRS). Statistical description and inference was used to reveal the endemic characteristics in gender, age group, time and regionalism. Spatial analysis was carried out to explore the high risk area for infantile VL in China. Results A total of 1093 infantile VL cases were reported from 2006 to 2012. There was no statistically significant difference in gender over time. The minimum, maximum and mean age of these cases was 1.1, 35.9 and 13.8 months, respectively. Among them 86.92% were under 2 years of age, and there was a statistically significant difference among age groups over time. An incidence peak appeared in 2008-2009, most cases were distributed in the months September to December, and there was a tail-raising effect in the coming two months of the next year. More than 98% of cases were reported in Xinjiang Uygur Autonomous Region, Gansu Province and Sichuan Province, accounting for 61.02%, 32.75% and 4.57%, respectively. A total of 56 counties reported infantile VL cases, with the cumulative incidence ranging from 0.02 to 24.57%. There were two main zones of high endemicity for infantile VL in China. The monthly incidence clearly coincides with the number of towns where infantile VL cases were reported. Three fatalities were reported during the study period, the case fatality rate was 2.75‰. Conclusions The endemic situation of infantile VL is

  4. Endemic characteristics of infantile visceral leishmaniasis in the People's Republic of China.

    Science.gov (United States)

    Fu, Qing; Li, Shi-Zhu; Wu, Wei-Ping; Hou, Yan-Yan; Zhang, Song; Feng, Yu; Zhang, Li-Ping; Tang, Lin-Hua

    2013-05-17

    Visceral leishmaniasis (VL) was once a severe parasitic disease in China. Thanks to the great efforts of integrated control, VL was eliminated in most epidemic areas, except for certain western provinces (autonomous region) at the end of 1950s. From then on, VL gained less attention and has seemed to spread, especially in the last 15 years. Infants are the most important population threatened by VL. However, there have been few studies on the endemic characteristics of infantile VL in China. Infantile VL cases were collected from the online National Infectious Diseases Reporting System (NIDRS). Statistical description and inference was used to reveal the endemic characteristics in gender, age group, time and regionalism. Spatial analysis was carried out to explore the high risk area for infantile VL in China. A total of 1093 infantile VL cases were reported from 2006 to 2012. There was no statistically significant difference in gender over time. The minimum, maximum and mean age of these cases was 1.1, 35.9 and 13.8 months, respectively. Among them 86.92% were under 2 years of age, and there was a statistically significant difference among age groups over time. An incidence peak appeared in 2008-2009, most cases were distributed in the months September to December, and there was a tail-raising effect in the coming two months of the next year. More than 98% of cases were reported in Xinjiang Uygur Autonomous Region, Gansu Province and Sichuan Province, accounting for 61.02%, 32.75% and 4.57%, respectively. A total of 56 counties reported infantile VL cases, with the cumulative incidence ranging from 0.02 to 24.57%. There were two main zones of high endemicity for infantile VL in China. The monthly incidence clearly coincides with the number of towns where infantile VL cases were reported. Three fatalities were reported during the study period, the case fatality rate was 2.75‰. The endemic situation of infantile VL is serious, and there are several active foci of

  5. A review of "music and movement" therapies for children with autism: embodied interventions for multisystem development.

    Science.gov (United States)

    Srinivasan, Sudha M; Bhat, Anjana N

    2013-01-01

    The rising incidence of Autism Spectrum Disorders (ASDs) has led to a surge in the number of children needing autism interventions. This paper is a call to clinicians to diversify autism interventions and to promote the use of embodied music-based approaches to facilitate multisystem development. Approximately 12% of all autism interventions and 45% of all alternative treatment strategies in schools involve music-based activities. Musical training impacts various forms of development including communication, social-emotional, and motor development in children with ASDs and other developmental disorders as well as typically developing children. In this review, we will highlight the multisystem impairments of ASDs, explain why music and movement therapies are a powerful clinical tool, as well as describe mechanisms and offer evidence in support of music therapies for children with ASDs. We will support our claims by reviewing results from brain imaging studies reporting on music therapy effects in children with autism. We will also discuss the critical elements and the different types of music therapy approaches commonly used in pediatric neurological populations including autism. We provide strong arguments for the use of music and movement interventions as a multisystem treatment tool for children with ASDs. Finally, we also make recommendations for assessment and treatment of children with ASDs, and provide directions for future research.

  6. Adult Multisystem Langerhans Cell Histiocytosis Presenting with Central Diabetes Insipidus Successfully Treated with Chemotherapy

    Directory of Open Access Journals (Sweden)

    Jung-Eun Choi

    2014-09-01

    Full Text Available We report the rare case of an adult who was diagnosed with recurrent multisystem Langerhans cell histiocytosis (LCH involving the pituitary stalk and lung who present with central diabetes insipidus and was successfully treated with systemic steroids and chemotherapy. A 49-year-old man visited our hospital due to symptoms of polydipsia and polyuria that started 1 month prior. Two years prior to presentation, he underwent excision of right 6th and 7th rib lesions for the osteolytic lesion and chest pain, which were later confirmed to be LCH on pathology. After admission, the water deprivation test was done and the result indicated that he had central diabetes insipidus. Sella magnetic resonance imaging showed a mass on the pituitary stalk with loss of normal bright spot at the posterior lobe of the pituitary. Multiple patchy infiltrations were detected in both lung fields by computed tomography (CT. He was diagnosed with recurrent LCH and was subsequently treated with inhaled desmopressin, systemic steroids, vinblastine, and mercaptopurine. The pituitary mass disappeared after two months and both lungs were clear on chest CT after 11 months. Although clinical remission in multisystem LCH in adults is reportedly rare, our case of adult-onset multisystem LCH was treated successfully with systemic chemotherapy using prednisolone, vinblastine, and 6-mercaptopurine, which was well tolerated.

  7. COMPARATIVE ANALYSIS OF CONVERTER STRUCTURES OF THE TRACTION DRIVE PROSPECTIVE MULTI-SYSTEM ELECTRIC LOCOMOTIVES WITH DC TRACTION MOTORS

    Directory of Open Access Journals (Sweden)

    A. M. Muha

    2009-03-01

    Full Text Available In the article the structured schemes of steady-state converter are offered for traction drive of promising multisystem electric locomotives with traction engines of direct current and their comparative analysis is conducted.

  8. hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes.

    Science.gov (United States)

    Le Ber, Isabelle; Van Bortel, Inge; Nicolas, Gael; Bouya-Ahmed, Kawtar; Camuzat, Agnès; Wallon, David; De Septenville, Anne; Latouche, Morwena; Lattante, Serena; Kabashi, Edor; Jornea, Ludmila; Hannequin, Didier; Brice, Alexis

    2014-04-01

    hnRNPA2B1 and hnRNPA1 mutations have been recently identified by exome sequencing in three families presenting with multisystem proteinopathy (MSP), a rare complex phenotype associating frontotemporal lobar degeneration (FTLD), Paget disease of bone (PDB), inclusion body myopathy (IBM), and amyotrophic lateral sclerosis (ALS). No study has evaluated the exact frequency of these genes in cohorts of MSP or FTD patients so far. We sequenced both genes in 17 patients with MSP phenotypes, and in 60 patients with FTLD and FTLD-ALS to test whether mutations could be implicated in the pathogenesis of these disorders. No disease-causing mutation was identified. We conclude that hnRNPA2B1 and hnRNPA1 mutations are rare in MSP and FTLD spectrum of diseases, although further investigations in larger populations are needed. Copyright © 2014 Elsevier Inc. All rights reserved.

  9. Descriptive summary of an outbreak of porcine post-weaning multisystemic wasting syndrome (PMWS ) in New Zealand.

    Science.gov (United States)

    Neumann, E J; Dobbinson, S S A; Welch, E B M; Morris, R S

    2007-12-01

    Investigations were conducted to determine the cause of an acute, multi-farm outbreak of porcine respiratory disease that included diarrhoea and subsequent loss of body condition in affected pigs. A definition for post-weaning multisystemic wasting syndrome (PMWS) including both clinical and pathological features, previously developed for the pig industry in New Zealand, was applied to the current outbreak. In addition to self-reporting by owners of affected farms, local veterinarians, disease and epidemiology consultants, and animal health officials from the Ministry of Agriculture and Forestry (MAF) were involved in conducting farm visits and submission of diagnostic specimens. Pathogens known to be endemic in the pig industry in New Zealand as well as likely exotic diseases were excluded as causative agents of the outbreak. Clinical signs including dyspnoea, diarrhoea, and rapid loss of body condition were consistent with the New Zealand case definition for PMWS. Interstitial pneumonia, pulmonary oedema, generalised lymph-node enlargement, and presence of porcine circovirus type 2 (PCV2) inclusion bodies were consistently identified in affected pigs. Classical swine fever virus (CSFv), Porcine reproductive and respiratory syndrome virus (PRRSv), and Influenza virus were ruled out, using molecular and traditional virological techniques. Spread of the disease between farms was hypothesised to be facilitated by locally migrating flocks of black-backed seagulls. The original source of the disease incursion was not identified. Based on the consistent presence of circovirus-associated lesions in lymphoid tissues in combination with generalised enlargement of lymph nodes, histiocytic interstitial pneumonia, clinical wasting, and poor response to antibiotic therapy, a diagnosis of PMWS was made. PMWS should be considered in the differential diagnoses of sudden onset of respiratory dyspnoea, diarrhoea, and rapid loss of body condition in young pigs in New Zealand pig

  10. Neonatal hypoglycemic brain injury is a cause of infantile spasms

    OpenAIRE

    YANG, GUANG; ZOU, LI-PING; WANG, JING; SHI, XIUYU; TIAN, SHUPING; YANG, XIAOFAN; JU, JUN; YAO, HONGXIANG; LIU, YUJIE

    2016-01-01

    Neonatal hypoglycemic brain injury is one of the causes of infantile spasms. In the present study, the clinical history and auxiliary examination results of 18 patients who developed infantile spasms several months after neonatal hypoglycemia were retrospectively analyzed. Among the 666 patients with infantile spasms admitted to two pediatric centers between January 2008 and October 2012, 18 patients developed infantile spasms after being diagnosed with neonatal hypoglycemia, defined as a who...

  11. Trabajo infantil e inasistencia escolar

    Directory of Open Access Journals (Sweden)

    Antonio Sandoval Ávila

    2007-01-01

    Full Text Available Trabajo infantil e inasistencia escolar El capitalismo neoliberal ha generalizado la pobreza que obliga a muchas familias a recurrir al trabajo de los hijos para poder subsistir. Por el trabajo, los menores desertan de la escuela. Cuando adultos, por la pérdida en educación, sólo podrán acceder a las ocupaciones de menor calificación y peor pagadas. Por ello, tienen muchas probabilidades de ser los futuros padres de nuevos niños trabajadores reproduciendo intergeneracionalmente la pobreza. La educación es el primer paso para romper el círculo de la pobreza; hay relación entre los niveles de educación y las remuneraciones que las ersonas pueden alcanzar. El desarrollo descansa en el acelerado cambio tecnológico que no es más que el conocimiento científico aplicado a la producción. Crear conocimiento supone educación superior, y en la base de ésta está la educación básica, que es el cimiento de cualquier modelo de desarrollo que aspire a la equidad. No educar a los menores significa desperdiciar la formación de capital humano, ello traba el desarrollo nacional. Sin educación no habrá capital humano calificado como motor básico de la productividad y la competitividad.

  12. [Infantile autism and mirror neurons].

    Science.gov (United States)

    Cornelio-Nieto, J O

    2009-02-27

    Infantile autism is a disorder that is characterised by alterations affecting reciprocal social interactions, abnormal verbal and non-verbal communication, poor imaginative activity and a restricted repertoire of activities and interests. The causes of autism remain unknown, but there are a number of different approaches that attempt to explain the neurobiological causes of the syndrome. A recent theory that has been considered is that of a dysfunction in the mirror neuron system (MNS). The MNS is a neuronal complex, originally described in monkeys and also found in humans, that is related with our movements and which offers specific responses to the movements and intended movements of other subjects. This system is believed to underlie processes of imitation and our capacity to learn by imitation. It is also thought to play a role in language acquisition, in expressing the emotions, in understanding what is happening to others and in empathy. Because these functions are altered in children with autism, it has been suggested that there is some dysfunction present in the MNS of those with autism. Dysfunction of the MNS could account for the symptoms that are observed in children with autism.

  13. Therapeutic goals in the treatment of Gaucher disease

    NARCIS (Netherlands)

    Pastores, Gregory M.; Weinreb, Neal J.; Aerts, Hans; Andria, Generoso; Cox, Timothy M.; Giralt, Manuel; Grabowski, Gregory A.; Mistry, Pramod K.; Tylki-Szymańska, Anna

    2004-01-01

    Gaucher disease, the most common lysosomal storage disorder, is a heterogeneous multisystem condition. Patients with non-neuronopathic (type 1) Gaucher disease may suffer from hepatomegaly, splenomegaly, thrombocytopenia, bleeding tendencies, anemia, hypermetabolism, skeletal pathology, growth

  14. Nitrogen and phosphorus in cascade multi-system tropical reservoirs: water and sediment

    Directory of Open Access Journals (Sweden)

    Pompêo Marcelo

    2017-09-01

    Full Text Available The aim of this research was to analyze the horizontal spatial heterogeneity of both water and superficial sediment quality among and within the reservoirs of the Cantareira System (CS, focusing on concentrations of N and P, attributed to the dumping of raw domestic sewage into water bodies, which is the main cause of water pollution in São Paulo State (Brazil. The CS is a multi-system complex composed of five interconnected reservoirs, with water transported by gravity through 48 km of tunnels and channels. From the last reservoir of the CS, with an output of 33 m3 s−1, the water is conducted to a water treatment plant, producing half of the water consumed by 19 million people inhabiting São Paulo city. The upstream reservoirs are more eutrophic than the downstream ones. Data also suggest that the low phytoplankton biomass (ranging from 0.9 to 14.4 μg dm−3 is regulated by the low nutrient availability, mainly of phosphorus (TP ranging from below the detection limit, <9.0 μg dm−3, to 47.3 μg dm−3. For water, the DIN/TP ratios values range from 19 to 380. The upstream reservoirs function as nutrient accumulators and the sediment is the main compartment in which P and N are stored. Although the reservoirs are located in different river basins and are not in sequence along the same river, the results suggest a marked gradient between the reservoirs, with features similar to those of cascade reservoirs. The large volumes flowing through the canals and tunnels could explain the observed pattern. The CS reservoirs can therefore be considered multi-system reservoirs in cascade, constituting a particular case of multi-system reservoirs.

  15. CAPS--pathogenesis, presentation and treatment of an autoinflammatory disease.

    Science.gov (United States)

    Kuemmerle-Deschner, Jasmin B

    2015-07-01

    The cryopyrin-associated periodic syndrome (CAPS) is a severity spectrum of rare diseases. CAPS comprises the three conditions previously described as familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disorder (NOMID), also known as chronic infantile neurologic, cutaneous, and articular (CINCA) syndrome. The clinical phenotype of CAPS is characterized by systemic inflammation. General symptoms are fatigue and fever. Local manifestations affect multiple tissues such as skin, joints, muscles, eyes, and the central nervous system. Distinct clinical features are characteristic for each subphenotype. In FCAS, these are cold-induced urticaria and fever, in MWS systemic amyloidosis and hearing loss and in NOMID/CINCA central nervous system inflammation and bone deformities. CAPS is caused by single heterozygous germline or somatic gain of function mutations in the NLRP3 gene encoding the protein cryopyrin. Cryopyrin nucleates an NLRP3 inflammasome, which regulates the activation and cleavage of caspase-1 that cleaves the pro-inflammatory cytokines, IL-1β and IL-18. IL-1β plays the key role in the induction of inflammation in CAPS. This has been confirmed by the application of IL-1 blocking agents, which lead not only to a rapid and sustained reversal of daily symptoms but also to some extent of long-term disease sequelae. To prevent CAPS-induced organ damage, early diagnosis and swift initiation of effective treatment are mandatory.

  16. A case of vascular Ehlers-Danlos Syndrome with a cardiomyopathy and multi-system involvement.

    Science.gov (United States)

    Lan, Nick Si Rui; Fietz, Michael; Pachter, Nicholas; Paul, Vincent; Playford, David

    Ehlers-Danlos Syndrome comprises a heterogeneous group of heritable connective tissue disorders resulting from various gene mutations. We present an unusual case of vascular Ehlers-Danlos Syndrome with distinctive physical characteristics and a cardiomyopathy with features suggesting isolated left ventricular non-compaction. The cardiac features represent the first report of a cardiomyopathy associated with a mutation in the COL3A1 gene. This case also illustrates the multi-system nature of Ehlers-Danlos Syndrome and the complexity of managing patients with the vascular subtype. Copyright © 2018 Elsevier Inc. All rights reserved.

  17. Nursing Integration and Innovation Across a Multisystem Enterprise: Priorities for Nurse Leaders.

    Science.gov (United States)

    Pappas, Sharon; McCauley, Linda

    There is no escaping the fact that the ability to skillfully influence change is a requirement for nurse leaders. This need is intensified as the national health care system reforms and as the morphology of health care systems continues to change, especially in academic health care systems. The purpose of this article was 2-fold. The first objective was to relay the experience of the integration of nursing practice, education, and research within an academic health care system. The second was to, through this story of integration, expose the uniqueness and importance of nurse leader roles influencing innovation across a multisystem enterprise to fulfill the organization's mission.

  18. Brainstem evoked potentials in infantile spasms

    International Nuclear Information System (INIS)

    Miyazaki, Masahito; Hashimoto, Toshiaki; Murakawa, Kazuyoshi; Tayama, Masanobu; Kuroda, Yasuhiro

    1992-01-01

    In ten patients with infantile spasms, brainstem evoked potentials and MRI examinations were performed to evaluate the brainstem involvement. The result of short latency somatosensory evoked potentials (SSEP) following the right median nerve stimulation revealed abnormal findings including the absence or low amplitudes of the waves below wave P3 and delayed central conduction time in 7 of the ten patients. The result of auditory brainstem responses (ABR) revealed abnormal findings including low amplitudes of wave V, prolonged interpeak latency of waves I-V and absence of the waves below wave IV in 5 of the ten patients. The result of the MRI examinations revealed various degrees of the brainstem atrophy in 6 of the ten patients, all of whom showed abnormal brainstem evoked potentials. The result of this study demonstrates that patients with infantile spasms are frequently associated with brainstem dysfunction and raises the possibility that brainstem atrophy might be a cause of infantile spasms. (author)

  19. Rapamycin and chloroquine: the in vitro and in vivo effects of autophagy-modifying drugs show promising results in valosin containing protein multisystem proteinopathy.

    Directory of Open Access Journals (Sweden)

    Angèle Nalbandian

    Full Text Available Mutations in the valosin containing protein (VCP gene cause hereditary Inclusion body myopathy (hIBM associated with Paget disease of bone (PDB, frontotemporal dementia (FTD, more recently termed multisystem proteinopathy (MSP. Affected individuals exhibit scapular winging and die from progressive muscle weakness, and cardiac and respiratory failure, typically in their 40s to 50s. Histologically, patients show the presence of rimmed vacuoles and TAR DNA-binding protein 43 (TDP-43-positive large ubiquitinated inclusion bodies in the muscles. We have generated a VCPR155H/+ mouse model which recapitulates the disease phenotype and impaired autophagy typically observed in patients with VCP disease. Autophagy-modifying agents, such as rapamycin and chloroquine, at pharmacological doses have previously shown to alter the autophagic flux. Herein, we report results of administration of rapamycin, a specific inhibitor of the mechanistic target of rapamycin (mTOR signaling pathway, and chloroquine, a lysosomal inhibitor which reverses autophagy by accumulating in lysosomes, responsible for blocking autophagy in 20-month old VCPR155H/+ mice. Rapamycin-treated mice demonstrated significant improvement in muscle performance, quadriceps histological analysis, and rescue of ubiquitin, and TDP-43 pathology and defective autophagy as indicated by decreased protein expression levels of LC3-I/II, p62/SQSTM1, optineurin and inhibiting the mTORC1 substrates. Conversely, chloroquine-treated VCPR155H/+ mice revealed progressive muscle weakness, cytoplasmic accumulation of TDP-43, ubiquitin-positive inclusion bodies and increased LC3-I/II, p62/SQSTM1, and optineurin expression levels. Our in vitro patient myoblasts studies treated with rapamycin demonstrated an overall improvement in the autophagy markers. Targeting the mTOR pathway ameliorates an increasing list of disorders, and these findings suggest that VCP disease and related neurodegenerative multisystem

  20. PORNOGRAFÍA INFANTIL EN INTERNET

    Directory of Open Access Journals (Sweden)

    Laura Negredo

    2016-09-01

    Full Text Available La descarga, intercambio y producción de pornografía infantil es una conducta delictiva de importancia creciente. La explotación cruel de menores y su vínculo con otros problemas como el abuso sexual despiertan preocupación social y académica. El presente trabajo aborda la naturaleza del fenómeno, las características de los materiales que se etiquetan como pornografía infantil, los rasgos psicológicos de los usuarios y los programas de tratamiento existentes.

  1. PERSPECTIVAS INFANTILES SOBRE LA TERRITORIALIDAD

    Directory of Open Access Journals (Sweden)

    NOELIA ENRIZ

    2009-12-01

    Full Text Available In this paper we propose a different approach to children's ideas about the geographical area in the particular context of the Mbyá Guarani population, from Misiones (Argentine. The territorial fragility, that is exposed to the indigenous people in Argentina aremanifested daily in several areas. Mbyá population, has been crossed by the boundaries of national states of Paraguay, Brazil and Argentina. The sedentary and enclosures land processes in different states, have prompted changes in the logic of subsistence, housing and community organization. In Misiones province case, bureaucratic accreditation of land titles is postponed, the state is not committed to the realization of this right.RESUMEN: En este trabajo nos proponemos un acercamiento a las diversas ideas infantiles sobre el territorio habitado, en el contexto particular de la población mbyá guaraní de Misiones. La fragilidad territorialidad a la que es expuesta la población indígena en Argentina se manifiestan cotidianamente en diversas áreas. La población mbyá, ha sido surcada por los límites de los estados nacionales de Paraguay, Brasil y Argentina. La sedentarización y los cercamientos de tierras en los diferentes estados, han impulsado transformaciones de las lógicas de subsistencia, de habitación y organización comunitaria. En el caso de la provincia de Misiones la acreditación burocrática de los títulos de tierras se encuentra aplazada, el estado no se compromete con la concreción de este derecho.

  2. Laser treatment of infantile hemangiomas

    Directory of Open Access Journals (Sweden)

    Michelle Si Ying Ng

    2017-01-01

    Full Text Available Infantile hemangiomas (IHs are the most common benign soft tissue tumor of infancy and childhood. Many patients seek early treatment to halt progression of tumor growth and accelerate regression to achieve quick resolution with good cosmetic outcomes. We reviewed literature through PubMed search on the treatment strategies for IH and share our experience in the field of laser treatment of IH. Treatment strategies for IH include both pharmacological, laser, and surgical interventions depending on the stage and severity of the lesion. Various laser beams have been attempted with varying effects and effectiveness. The 595-nm pulsed dye laser therapy has been most widely utilized owing to its great efficacy but minimal adverse effects. It works by targeting oxyhemoglobin chromophore in blood vessels located within the dermis, causing photothermal damage of these target vessels stimulating quick involution without damaging surrounding healthy skin. It is especially useful in treating ulcerated superficial facial hemangiomas that necessitate rapid healing to avoid unsightly scarring. It has a good safety profile but small risk of epidermal burn, blistering, postinflammatory pigment changes, and scarring remains in those with darker skin types treated with higher fluences and short-pulsed duration. Combination treatment with 1064 nm neodymium-doped yttrium aluminum garnet laser, oral propranolol, and even corticosteroids remains an option, especially in treatment of deep, large, and functionally threatening IH. Careful consideration in consultation with the child's parents given the complexities and potential complications surrounding treatment should always be considered. Laser treatment remains an appropriate treatment for rapidly growing IH in exposed locations at early presentation.

  3. Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy

    Energy Technology Data Exchange (ETDEWEB)

    Bianchi, Marzia; Rizza, Teresa; Verrigni, Daniela [Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, ' Bambino Gesu' Children' s Hospital, Rome (Italy); Martinelli, Diego [Division of Metabolism, ' Bambino Gesu' Children' s Hospital, Rome (Italy); Tozzi, Giulia; Torraco, Alessandra; Piemonte, Fiorella [Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, ' Bambino Gesu' Children' s Hospital, Rome (Italy); Dionisi-Vici, Carlo [Division of Metabolism, ' Bambino Gesu' Children' s Hospital, Rome (Italy); Nobili, Valerio [Gastroenterology and Liver Unit, ' Bambino Gesu' Children' s Hospital, Rome (Italy); Francalanci, Paola; Boldrini, Renata; Callea, Francesco [Dept. Pathology, ' Bambino Gesu' Children' s Hospital, Rome (Italy); Santorelli, Filippo Maria [UOC Neurogenetica e Malattie Neuromuscolari, Fondazione Stella Maris, Pisa (Italy); Bertini, Enrico [Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, ' Bambino Gesu' Children' s Hospital, Rome (Italy); and others

    2011-11-18

    Highlights: Black-Right-Pointing-Pointer Expanded array of mtDNA deletions. Black-Right-Pointing-Pointer Pearson syndrome with prominent hepatopathy associated with single mtDNA deletions. Black-Right-Pointing-Pointer Detection of deletions in fibroblasts and blood avoids muscle and liver biopsy. Black-Right-Pointing-Pointer Look for mtDNA deletions before to study nuclear genes related to mtDNA depletion. -- Abstract: Hepatic involvement in mitochondrial cytopathies rarely manifests in adulthood, but is a common feature in children. Multiple OXPHOS enzyme defects in children with liver involvement are often associated with dramatically reduced amounts of mtDNA. We investigated two novel large scale deletions in two infants with a multisystem disorder and prominent hepatopathy. Amount of mtDNA deletions and protein content were measured in different post-mortem tissues. The highest levels of deleted mtDNA were in liver, kidney, pancreas of both patients. Moreover, mtDNA deletions were detected in cultured skin fibroblasts in both patients and in blood of one during life. Biochemical analysis showed impairment of mainly complex I enzyme activity. Patients manifesting multisystem disorders in childhood may harbour rare mtDNA deletions in multiple tissues. For these patients, less invasive blood specimens or cultured fibroblasts can be used for molecular diagnosis. Our data further expand the array of deletions in the mitochondrial genomes in association with liver failure. Thus analysis of mtDNA should be considered in the diagnosis of childhood-onset hepatopathies.

  4. Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy

    International Nuclear Information System (INIS)

    Bianchi, Marzia; Rizza, Teresa; Verrigni, Daniela; Martinelli, Diego; Tozzi, Giulia; Torraco, Alessandra; Piemonte, Fiorella; Dionisi-Vici, Carlo; Nobili, Valerio; Francalanci, Paola; Boldrini, Renata; Callea, Francesco; Santorelli, Filippo Maria; Bertini, Enrico

    2011-01-01

    Highlights: ► Expanded array of mtDNA deletions. ► Pearson syndrome with prominent hepatopathy associated with single mtDNA deletions. ► Detection of deletions in fibroblasts and blood avoids muscle and liver biopsy. ► Look for mtDNA deletions before to study nuclear genes related to mtDNA depletion. -- Abstract: Hepatic involvement in mitochondrial cytopathies rarely manifests in adulthood, but is a common feature in children. Multiple OXPHOS enzyme defects in children with liver involvement are often associated with dramatically reduced amounts of mtDNA. We investigated two novel large scale deletions in two infants with a multisystem disorder and prominent hepatopathy. Amount of mtDNA deletions and protein content were measured in different post-mortem tissues. The highest levels of deleted mtDNA were in liver, kidney, pancreas of both patients. Moreover, mtDNA deletions were detected in cultured skin fibroblasts in both patients and in blood of one during life. Biochemical analysis showed impairment of mainly complex I enzyme activity. Patients manifesting multisystem disorders in childhood may harbour rare mtDNA deletions in multiple tissues. For these patients, less invasive blood specimens or cultured fibroblasts can be used for molecular diagnosis. Our data further expand the array of deletions in the mitochondrial genomes in association with liver failure. Thus analysis of mtDNA should be considered in the diagnosis of childhood-onset hepatopathies.

  5. A review of music and movement therapies for children with autism: Embodied interventions for multisystem development

    Directory of Open Access Journals (Sweden)

    Anjana Narayan Bhat

    2013-04-01

    Full Text Available The rising incidence of Autism Spectrum Disorders (ASDs has led to a surge in the number of children needing autism interventions. This paper is a call to clinicians to diversify autism interventions and to promote the use of embodied music-based approaches to facilitate multisystem development. Approximately 12% of all autism interventions and 45% of all alternative treatment strategies in schools involve music-based activities. Evidence suggests that musical training significantly impacts various forms of development including communication, social-emotional, motor, and behavioral development, in children with ASDs, typically developing individuals, and children with other neurological disabilities such as dyslexia and intellectual disabilities. In this review, we first highlight mechanisms and evidence for how music and movement interventions can enhance communication, social-emotional, behavioral, and motor skills in individuals with autism. We will support our claims by reviewing results from brain imaging studies in children with autism that provide neuroanatomical evidence for the effects of music therapies in autism. We will also discuss the critical elements and the different types of music therapy approaches commonly used in pediatric neurological populations including autism. We provide strong arguments for the use of music and movement interventions as a multisystem treatment tool for children with ASDs. Finally, we also make recommendations for assessment and treatment of children with ASDs, and provide directions for future research.

  6. Moral Judgment, Sensitivity To Reasons, and the Multi-system View

    Directory of Open Access Journals (Sweden)

    Francesco Orsi

    2012-11-01

    Full Text Available In this paper I attempt a critical examination of the multi-system or dual-process view of moral judgment. This view aims to provide a psychological explanation of moral sensitivity, and in particular an explanation of conflicting moral sensitivities in dilemma cases such as the crying baby scenario. I argue that proponents of the multi-system view owe us a satisfactory account of the mechanisms underlying “consequentialist” responses to such scenarios. For one thing, the “cognitive” processes involved in consequentialist reasoning only seem to play a subserving role with respect to the final judgment (providing non-moral inputs to judgment, or exerting additional strength to override the immediate “deontological” response. In this sense, Greene and colleagues fail to identify a peculiar system of moral judgment specularly opposed to the affective “deontological” one. For another, Greene and colleagues’ work on the emotion-cognition dichotomy and the distinction between alarm-bell and currency emotions, though promising, still falls short of providing an adequate and consistent picture of the psychological mechanisms underlying “cognitive” evaluations and verdicts in dilemma scenarios. It is suggested that alongside further experimental work, proponents of this view should pay more attention to the conceptual underpinnings of their distinctions.

  7. Improvement of Transient Stability in a Hybrid Power Multi-System Using a Designed NIDC (Novel Intelligent Damping Controller

    Directory of Open Access Journals (Sweden)

    Ting-Chia Ou

    2017-04-01

    Full Text Available This paper endeavors to apply a novel intelligent damping controller (NIDC for the static synchronous compensator (STATCOM to reduce the power fluctuations, voltage support and damping in a hybrid power multi-system. In this paper, we discuss the integration of an offshore wind farm (OWF and a seashore wave power farm (SWPF via a high-voltage, alternating current (HVAC electric power transmission line that connects the STATCOM and the 12-bus hybrid power multi-system. The hybrid multi-system consists of a battery energy storage system (BESS and a micro-turbine generation (MTG. The proposed NIDC consists of a designed proportional–integral–derivative (PID linear controller, an adaptive critic network and a proposed functional link-based novel recurrent fuzzy neural network (FLNRFNN. Test results show that the proposed controller can achieve better damping characteristics and effectively stabilize the network under unstable conditions.

  8. Mortalidad infantil en Cuba 1959-1999

    Directory of Open Access Journals (Sweden)

    Raúl Riverón Corteguera

    2001-09-01

    enfermedades diarreicas y de las infecciones respiratorias agudas, la lactancia materna, el control de la sepsis y los síndromes neurológicos infecciosos, así como la tecnología avanzada y el desarrollo de las unidades de terapia intermedia e intensiva neonatales y pediátricas. No puede olvidarse tampoco el arduo trabajo desarrollado por nuestros médicos, enfermeras y técnicos que en todo momento han dado lo mejor de su trabajo en aras de reducir con sus modestos esfuerzos, la mortalidad infantil en toda Cuba.According to the available statistical data, from 1959 to 1999, infant mortality rate in Cuba decreased 81.3 %; early neonatal mortality, 73.4 %; late neonatal mortality, 83.6 %; and postneonatal mortality, 86.0 %. The reductions obtained during this period were uniformly distributed among all the provinces, although the most significant decrease took place in the central and western provinces. Enteritis and other diarrheal diseases, acute respiratory infections, perinatal affections in general and meningitis showed the greatest reductions, even though all the causes of death were reduced in this period. Natality decreased 51.3 %; fecundity, 30 %; and the gross demographic growth of the population, 59.8 %. The institutional delivery increased 65.9 %, low birth weight descended 36.9 %, perinatal mortality decreased 67.2 %, live births decreased 21.1 % and infant survival at 5 rose 3.8 %. This has been possible due mainly to the political decision made by our State of giving priority to the health sector and, specially, to maternal and child health at the beginning of the 1960s, which allowed to attain advances in the organizaton and quality of health care and a wide health services coverage. The improvement of the living standard, of education and of the health and epidemiological situation achieved by the population, as well as the equitative distribution of food, prioritizing mothers and children, were also important elements. A fundamental factor in the last

  9. Acute Infantile Hemiplegia Associated with Ipsilateral Retinal ...

    African Journals Online (AJOL)

    An 18-month-old patient with acute infantile hemiplegia, aphasia and ipsilateral retinal vascular occlusion, is described. The opthalmic findings suggest that the lesion was due to emboli originating from both internal carotid arteries, probably as a result of upper respiratory tract infection and otitis media. This report ...

  10. Biofeedback: Infant asthma Biofeedback: asma infantil

    Directory of Open Access Journals (Sweden)

    J. J. Nombela

    2010-09-01

    Full Text Available

    The present study is a revision of the different applications of biofeedback in infantile bronchial asthma. The technique may be used on its own (preferably in the motor area or in conjunction with other techniques such as hypnosis, relaxation, etc. However, it should be stated that previous work published in this field is difficult to interpret since results are inconclusive, it is, therefore, difficult to produce a scientific summary.

    KEY WORDS: Biofeedback; infantile asthma; respiratory biofeedback.

    Con este trabajo se pretende hacer una revisión sobre las distintas aplicaciones del biofeedback en el asma bronquial infantil, bien solo (preferentemente en el campo motriz o bien asociado a otras técnicas de hipnosis, relajación, etc. Aunque es necesario manifestar que la producción científica relacionada con el tema, hace que tenga una difícil valoración dado que sus resultados son no concluyentes y discutibles, lo cual dificulta la elaboración de un resumen científico.
    PALABRAS CLAVE: Biofeedback; asma infantil; biofeedback respiratorio

  11. El testimonio infantil ante el abuso sexual

    OpenAIRE

    Vera Temiño, Alba

    2012-01-01

    Se aborda la problemática de la evaluación del testimonio infantil en los casos de abuso sexual. Se hace un recorrido por las dificultades que plantea este tipo de análisis y se profundiza en las herramientas forenses que la psicología ha creado para su investigación

  12. Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients

    Energy Technology Data Exchange (ETDEWEB)

    Farina, L.; Bruzzone, M.G.; D`Incerti, L.; Savoiardo, M. [Department of Neuroradiology, Istituto Nazionale Neurologico C. Besta, Milan (Italy); Nardocci, N.; Zorzi, G. [Department of Child Neurology, Istituto Nazionale Neurologico C. Besta, Milan (Italy); Verga, L.; Morbin, M. [Department of Neuropathology, Istituto Nazionale, Neurologico C. Besta, Milan (Italy)

    1999-05-01

    We report the imaging findings in 11 patients with infantile neuroaxonal dystrophy. Ten patients underwent 15 MRI examinations; one patient had only CT. Of the ten patients who underwent MRI, eight had cerebellar atrophy and mildly increased signal from the cerebellar cortex on T2-weighted images. With T2 weighting there was slightly increased signal from the dentate nuclei in two patients and from the posterior periventricular white matter in three. We saw four patients with a thin optic chiasm. The only two brothers in the series had markedly low signal from the globus pallidus and substantia nigra on 1.5 T T2-weighted images, as seen in Hallervorden-Spatz disease (HSD). Abnormalities of the globus pallidus may be related to a protracted course of the disease. However, an overlap with HSD should be considered. (orig.) With 3 figs., 1 tab., 28 refs.

  13. Value of cardiac catheterization and cineangiography in infantile lobar emphysema

    Energy Technology Data Exchange (ETDEWEB)

    Roguin, N.; Peleg, H.; Naveh, Y.; Riss, E.

    1980-01-01

    Lobar emphysema is an uncommon cause of respiratory distress in infancy. Congenital heart disease is seen in about 20% of the patients with infantile (congenital) lobar emphysema. We described six infants with lobar emphysema. In three of them a congenital heart disease was demonstrated by cardiac catheterization and cineangiography; two had a tetralogy of Fallot with right aortic arch and the third infant a ventricular septal defect. The pulmonary angiography showed stretching of the arteries with very poor filling of the peripheral arteries and a characteristic smaller pulmonary vein in the affected lobe. In all the six patients the pulmonary artery pressure was normal. All the patients underwent lobectomy with good results. We feel that a preoperative cardiac catheterization and cineangiography is of value in this very sick group of infants.

  14. Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients

    International Nuclear Information System (INIS)

    Farina, L.; Bruzzone, M.G.; D'Incerti, L.; Savoiardo, M.; Nardocci, N.; Zorzi, G.; Verga, L.; Morbin, M.

    1999-01-01

    We report the imaging findings in 11 patients with infantile neuroaxonal dystrophy. Ten patients underwent 15 MRI examinations; one patient had only CT. Of the ten patients who underwent MRI, eight had cerebellar atrophy and mildly increased signal from the cerebellar cortex on T2-weighted images. With T2 weighting there was slightly increased signal from the dentate nuclei in two patients and from the posterior periventricular white matter in three. We saw four patients with a thin optic chiasm. The only two brothers in the series had markedly low signal from the globus pallidus and substantia nigra on 1.5 T T2-weighted images, as seen in Hallervorden-Spatz disease (HSD). Abnormalities of the globus pallidus may be related to a protracted course of the disease. However, an overlap with HSD should be considered. (orig.)

  15. Rare association of central pontine myelinolysis with infantile tremor syndrome

    Directory of Open Access Journals (Sweden)

    Kalpana Datta

    2012-01-01

    Full Text Available Central pontine myelinolysis (CPM is an acute demyelination within the central basis pontis. Though exact mechanism is not known it is seen commonly with rapid correction of hyponatremia and also with pontine ischemia or infarction, demyelinating diseases, pontine neoplasm and different metabolic diseases. We report a rare association of CPM in a patient of Infantile Tremor Syndrom (ITS. ITS is a syndrome of tremor, mental and physical retardation, pigmentary changes of hair and skin and anemia in malnourished children. Though first reported in Indian subcontinent many identical cases were reported from around the world. Our case is a 15 month old child with generalized tremor, mild hepatosplenomegaly with features of grade II malnutrition including skin and hair changes. All the signs and symtoms of tremor improved after treatment with the World Health Organization (WHO protocol for protein energy malnutrition (PEM and administration of propranolol without any side effects.

  16. Menkes disease

    DEFF Research Database (Denmark)

    Tümer, Zeynep; Møller, Lisbeth B

    2010-01-01

    Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar 'kinky' hair are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority...... of surplus copper from cells. Severely affected MD patients die usually before the third year of life. A cure for the disease does not exist, but very early copper-histidine treatment may correct some of the neurological symptoms....

  17. Fresh frozen plasma resuscitation attenuates platelet dysfunction compared with normal saline in a large animal model of multisystem trauma

    DEFF Research Database (Denmark)

    Sillesen, Martin; Johansson, Pär I; Rasmussen, Lars S

    2014-01-01

    to multisystem trauma (traumatic brain injury, liver injury, rib fracture, and soft tissue injury) with hemorrhagic shock (40% of estimated blood volume). Animals were left in shock (mean arterial pressure, 30-35 mm Hg) for 2 hours followed by resuscitation with three times shed volume NS (n = 6) or one times...

  18. The lack of cross-national equivalence of a therapist adherence measure (TAM-R) in multisystemic therapy (MST)

    NARCIS (Netherlands)

    Lange, A.M.C.; Scholte, R.H.J.; Geffen, W. van; Timman, R.; Busschbach, J.J.V. van; Rijken, R.E.A. van der

    2016-01-01

    This two-study report investigates the equivalence of the Dutch Therapist Adherence Measure Revised (TAM-R) to the US original. The TAM-R is a questionnaire measuring therapist adherence to the treatment model of Multisystemic Therapy (MST). Monitoring of therapist adherence is essential for

  19. A randomized controlled trial of the effectiveness of multisystemic therapy in the Netherlands: post-treatment changes and moderator effects

    NARCIS (Netherlands)

    Asscher, J.J.; Dekovic, M.; Manders, W.A.; Prins, P.J.M.; van der Laan, P.H.

    2013-01-01

    Objective: In the present randomized controlled trial, the effectiveness of multisystemic therapy (MST) in The Netherlands was examined. Moderator tests were conducted for ethnicity, age and gender. Methods: The sample consisted of N = 256 adolescents, referred because of conduct problems, and

  20. A randomized controlled trial of the effectiveness of multisystemic therapy in the Netherlands: post-treatment changes and moderator effects

    NARCIS (Netherlands)

    Asscher, J.J.; Deković, M.; Manders, W.A.; van der Laan, P.H.; Prins, P.J.M.

    2013-01-01

    Objective: In the present randomized controlled trial, the effectiveness of multisystemic therapy (MST) in The Netherlands was examined. Moderator tests were conducted for ethnicity, age and gender. Methods: The sample consisted of N = 256 adolescents, referred because of conduct problems, and

  1. Childhood abuse, parental warmth, and adult multisystem biological risk in the Coronary Artery Risk Development in Young Adults study.

    Science.gov (United States)

    Carroll, Judith E; Gruenewald, Tara L; Taylor, Shelley E; Janicki-Deverts, Denise; Matthews, Karen A; Seeman, Teresa E

    2013-10-15

    Childhood abuse increases adult risk for morbidity and mortality. Less clear is how this "toxic" stress becomes embedded to influence health decades later, and whether protective factors guard against these effects. Early biological embedding is hypothesized to occur through programming of the neural circuitry that influences physiological response patterns to subsequent stress, causing wear and tear across multiple regulatory systems. To examine this hypothesis, we related reports of childhood abuse to a comprehensive 18-biomarker measure of multisystem risk and also examined whether presence of a loving parental figure buffers against the impact of childhood abuse on adult risk. A total of 756 subjects (45.8% white, 42.7% male) participated in this ancillary substudy of the Coronary Artery Risk Development in Young Adults Study. Childhood stress was determined by using the Risky Families Questionnaire, a well-validated retrospective self-report scale. Linear regression models adjusting for age, sex, race, parental education, and oral contraceptive use found a significant positive relationship between reports of childhood abuse and multisystem health risks [B (SE) = 0.68 (0.16); P childhood was associated with lower multisystem health risks [B (SE) = -0.40 (0.14); P childhood had the highest multisystem risk in adulthood.

  2. Ribosome profiling reveals features of normal and disease-associated mitochondrial translation

    NARCIS (Netherlands)

    Rooijers, K.; Loayza-Puch, F.; Nijtmans, L.G.J.; Agami, R.

    2013-01-01

    Mitochondria are essential cellular organelles for generation of energy and their dysfunction may cause diabetes, Parkinson's disease and multi-systemic failure marked by failure to thrive, gastrointestinal problems, lactic acidosis and early lethality. Disease-associated mitochondrial mutations

  3. Ribosome profiling reveals features of normal and disease-associated mitochondrial translation

    NARCIS (Netherlands)

    K. Rooijers (Koos); F. Loayza-Puch (Fabricio); L.G.J. Nijtmans (Leo); R. Agami (Reuven)

    2013-01-01

    textabstractMitochondria are essential cellular organelles for generation of energy and their dysfunction may cause diabetes, Parkinson's disease and multi-systemic failure marked by failure to thrive, gastrointestinal problems, lactic acidosis and early lethality. Disease-associated mitochondrial

  4. CT findings in patients with infantile epilepsy on ACTH therapy

    International Nuclear Information System (INIS)

    Watanabe, Kazunari; Hara, Kimiko; Hakamada, Akira; Miyazaki, Shuji.

    1981-01-01

    A case of infantile spasms in which subdural hematoma developed after ACTH-Z therapy was reported. The results of CT evaluated before and after the therapy in 17 cases of infantile epilepsy including infantile spasms. Cerebral atrophy due to ACTH-Z therapy was remarkable, especially in the infants under one year old. We should vary careful in employing ACTH-Z therapy for infants of this age. (Ueda, J.)

  5. Infantile bilateral glaucoma in a child with ectodermal dysplasia.

    Science.gov (United States)

    Callea, Michele; Vinciguerra, Agatino; Willoughby, Colin E; Deroma, Laura; Clarich, Gabriella

    2013-01-01

    Ectodermal dysplasia is a rare disease which affects at least two ectodermal-derived structures such as hair, nails, skin, sweat glands and teeth. Approximately 200 different conditions have been classified as an ectodermal dysplasia and X-linked hypohidrotic ectodermal dysplasia (XHED) represents the commonest form. Clinically, XHED is characterized by hypotrichosis, hypohidrosis and hypodontia. A variety of ocular manifestations have been reported in XHED, the most common being dryness of eyes due to tear deficiency and instability of the film secondary to the absence of meibomian gland function. Here we report a child with the distinctive clinical features of XHED confirmed with molecular diagnosis who presented with infantile bilateral glaucoma, in addition to the classical ocular involvement in XHED.

  6. Management of infantile hemangiomas: Current trends

    Directory of Open Access Journals (Sweden)

    Gomathy Sethuraman

    2014-01-01

    Full Text Available Infantile hemangiomas (IH are common vascular tumours. IH have a characteristic natural course. They proliferate rapidly during the early infantile period followed by a period of gradual regression over several years. Most of the uncomplicated IH undergo spontaneous involution, with a small proportion of cases requiring intervention. These are children with IH in life-threatening locations, local complications like haemorrhage, ulceration and necrosis and functional or cosmetic disfigurements. Systemic corticosteroids have been the first line of treatment for many years. Recently, non-selective beta-blockers, such as oral propranalol and topical timolol, have emerged as promising and safer therapies. Other treatment options include interferon α and vincristine which are reserved for life-threatening haemangiomas that are unresponsive to conventional therapy. This review mainly focuses on the current trends and evidence-based approach in the management of IH.

  7. Hígado graso agudo del embarazo: tres primeros casos en el Hospital Materno Infantil

    Directory of Open Access Journals (Sweden)

    Ariel I. Ruiz Parra

    1986-01-01

    Full Text Available We present three cases of acute fatty liver during pregnancy studied at the Hospital Materno Infantil of Bogotá; clinical laboratory and pathological results are discussed and knowledge and hypothesis about the disease entity are resumend, emphasiying the need to consider this diagnostic option when studying icteric patients during the third pregnancy trimester since instauration of support mea sures could contribute to a better prognosis.

  8. Lesiones infantiles: Lo que necesita saber (Child Injury: What You Need to Know)

    Centers for Disease Control (CDC) Podcasts

    2012-04-16

    Este podcast se basa en el informe de Vital Signs de los CDC de abril del 2012. Muchas lesiones y muertes infantiles se pueden prevenir, como las causadas por choques automovilísticos, asfixia, envenenamientos, ahogamientos, incendios y caídas. Este podcast habla sobre las formas de prevenir estas lesiones y muertes.  Created: 4/16/2012 by Centers for Disease Control and Prevention (CDC).   Date Released: 4/16/2012.

  9. CRESCIMENTO INFANTIL: ANÁLISE DO CONCEITO

    Directory of Open Access Journals (Sweden)

    Flávia Paula Magalhães Monteiro

    2016-01-01

    Full Text Available El objetivo fue analizar el concepto de crecimiento infantil mediante identificación de elementos atributos y consecuencias que componen el fenómeno. Para análisis de concepto que fue basado en 41 estudios, se utilizaron el modelo de análisis evolutivo y la revisión integradora de la literatura. Para selección de las producciones, se buscaron las bases de datos Scopus, Cinahl y Lilacs, el portal de PubMed e la biblioteca Cochrane. El crecimiento se ha presentado diferentes connotaciones, incluyendo aspectos sociales y fisiológicos como parte del dominio físico del desarrollo del niño. Atributos y consecuencias identificadas traen amplia percepción acerca del fenómeno analizado, teniendo en cuenta que vinculan diversos aspectos relacionados con otros estudios sobre crecimiento infantil. La comprensión teórica del desarrollo infantil puede proporcionar a enfermeros conocimiento en profundidad sobre los factores que implican este proceso, facilitando decisiones a través de medidas de intervención.

  10. Impacto das ações de imunização pelo Programa Saúde da Família na mortalidade infantil por doenças evitáveis em Olinda, Pernambuco, Brasil Impact of immunization measures by the Family Health Program on infant mortality from preventable diseases in Olinda, Pernambuco State, Brazil

    Directory of Open Access Journals (Sweden)

    Tânia Maria Rocha Guimarães

    2009-04-01

    Full Text Available Este artigo aborda o impacto do Programa Saúde da Família (PSF na saúde infantil no Município de Olinda, Pernambuco, Brasil, por meio da avaliação da vacinação e mortalidade infantil por causas evitáveis. Realizou-se um estudo de série temporal com os dados dos principais sistemas de informação em saúde, usando-se a análise dos indicadores ex-ante e ex-post da implantação do PSF, em 1995. A variável independente foi o ano de nascimento relacionado com grau de cobertura da população pelo PSF. Analisou-se três períodos: 1990/1994 (anterior, 1995/1996 (implantação: cobertura de 0% a 30%, 1997/2002 (intervenção: cobertura de 38,6% a 54%. A tendência dos indicadores foi analisada pela regressão linear simples, sendo testada a significância pelo teste t. No período de implantação houve aumento de todas as médias das coberturas vacinais (176% BCG, 223% pólio, 52% DPT, 61% sarampo e redução da mortalidade infantil por causas evitáveis (12,7 óbitos/ano, mesmo não havendo diminuição da pobreza absoluta no município ou aumento das coberturas das redes públicas de saúde nem de esgotamento. A melhoria nos indicadores demonstra a efetividade das ações do PSF no município.This article analyzes the impact of the Family Health Program (FHP on infant health in Olinda, Pernambuco State, Brazil, evaluating immunization and infant mortality from vaccine-preventable diseases. A time-series study was conducted with data from the principal health information systems, analyzing indicators before and after implementation of the FHP in 1995. The independent variable was year of birth, related to degree of population coverage by the FHP. Three periods were analyzed: 1990-1994 (prior, 1995-1996 (implementation phase: 0 to 30% coverage, and 1997-2002 (intervention: coverage of 38.6% to 54%. Trends in the indicators were analyzed by simple linear regression, testing significance with the t test. During the implementation period

  11. The Early vs. Late Infantile Strabismus Surgery Study: Monitoring Report

    NARCIS (Netherlands)

    H.J. Simonsz (Huib)

    1995-01-01

    textabstractAbstract: The Early vs. Late Infantile Strabismus Surgery Study Group is a group of strabismologists and orthoptists who investigate whether early or late surgery is preferable in infantile strabismus, in a non-randomized, prospective, multi-center trial. Infants between six and 18

  12. El maltrato infantil y la credibilidad del testimonio en menores

    OpenAIRE

    Fagúndez Gómez, Raquel

    2015-01-01

    En los últimos años ha aumentado de forma exponencial la investigación acerca del maltrato infantil, ya que se considera un acto reprobable y completamente perjudicial para el menor. Este estudio tiene como finalidad dar a conocer los tipos de maltrato infantil existentes y la metodología que se puede utilizar para detectarlos.

  13. Treatment of Infantile Diarrhea by Acupuncture and Laser Irradiation - A Report of 60 Cases

    Institute of Scientific and Technical Information of China (English)

    丁渡明

    2004-01-01

    @@ Infantile diarrhea is a common disease in babies of less than 2 years old in summer or autumn. It is due to acute dyspepsia mainly caused by improper feeding or attack of cold or damp pathogens.Clinically, it is characterized by increased times of defecation (5-6, or even dozens of times a day),yellow-green or blue-green thin feces intermingled with mucus, milk-mass and indigested food which have a sour and fetid odor, accompanied with loss of appetite, abdominal distending pain, nausea,vomiting, and even fever, irritability, dehydration and electrolyte disturbance in severe cases. The microscopy reveals that there are leukocytes and fat globules in feces. We have treated 60 cases of infantile diarrhea with acupuncture and He-Ne laser point irradiation and obtained satisfactory therapeutic results.

  14. Ehlers–Danlos Syndrome—Hypermobility Type: A Much Neglected Multisystemic Disorder

    Directory of Open Access Journals (Sweden)

    Yael Gazit

    2016-10-01

    Full Text Available Ehlers–Danlos syndrome (EDS—hypermobility type (HT is considered to be the most common subtype of EDS and the least severe one; EDS-HT is considered to be identical to the joint hypermobility syndrome and manifests with musculoskeletal complaints, joint instability, and soft tissue overuse injury. Musculoskeletal complaints manifest with joint pain of non-inflammatory origin and/or spinal pain. Joint instability leads to dislocation or subluxation and involves peripheral joints as well as central joints, including the temporomandibular joints, sacroiliac joints, and hip joints. Soft tissue overuse injury may lead to tendonitis and bursitis without joint inflammation in most cases. Ehlers–Danlos syndrome-HT carries a high potential for disability due to recurrent dislocations and subluxations and chronic pain. Throughout the years, extra-articular manifestations have been described, including cardiovascular, autonomic nervous system, gastrointestinal, hematologic, ocular, gynecologic, neurologic, and psychiatric manifestations, emphasizing the multisystemic nature of EDS-HT. Unfortunately, EDS-HT is under-recognized and inadequately managed, leading to neglect of these patients, which may lead to severe disability that almost certainly could have been avoided. In this review article we will describe the known manifestations of the extra-articular systems.

  15. A multisystemic Acanthamoeba infection in a dog in Tenerife, Canary Islands, Spain.

    Science.gov (United States)

    Valladares, María; Reyes-Batlle, María; Mora-Peces, Inmaculada; Martín-Navarro, Carmen M; López-Arencibia, Atteneri; Dorta-Gorrín, Alexis; Comyn-Afonso, Estefanía; Martínez-Carretero, Enrique; Maciver, Sutherland K; Piñero, José E; Valladares, Basilio; Lorenzo-Morales, Jacob

    2014-10-15

    A 22-month-old male Spanish water dog was hospitalized after its physical examination revealed fever and movement difficulty. After 24h, the dog was found to have a high fever (39.5 °C) and was treated empirically with doxycycline/ciprofloxacin. At 48 h, after submission the fever rose to 41 °C and the animal presented with a stiff neck and dehydration. Peripheral blood and cerebrospinal fluid (CSF) were sampled and trophozoites with an Acanthamoeba-like morphology were observed in the CSF. PCR specific for Acanthamoeba, Naegleria fowleri and Balamuthia mandrillaris were performed and the CSF sample found positive for Acanthamoeba. Lungs, kidney, liver and spleen samples were collected post mortem. All collected organ samples were positive for Acanthamoeba by PCR, thus confirming a multisystemic infection. Water samples taken at a suspected site of infection yielded an almost identical PCR fragment to those of the clinical samples, indicating that this was probably where the infection originated. This is the first report of a fatal case of Acanthamoeba disseminated infection in a dog in Spain. Copyright © 2014 Elsevier B.V. All rights reserved.

  16. Neuroimaging to Investigate Multisystem Involvement and Provide Biomarkers in Amyotrophic Lateral Sclerosis

    Science.gov (United States)

    Pradat, Pierre-François; El Mendili, Mohamed-Mounir

    2014-01-01

    Neuroimaging allows investigating the extent of neurological systems degeneration in amyotrophic lateral sclerosis (ALS). Advanced MRI methods can detect changes related to the degeneration of upper motor neurons but have also demonstrated the participation of other systems such as the sensory system or basal ganglia, demonstrating in vivo that ALS is a multisystem disorder. Structural and functional imaging also allows studying dysfunction of brain areas associated with cognitive signs. From a biomarker perspective, numerous studies using diffusion tensor imaging showed a decrease of fractional anisotropy in the intracranial portion of the corticospinal tract but its diagnostic value at the individual level remains limited. A multiparametric approach will be required to use MRI in the diagnostic workup of ALS. A promising avenue is the new methodological developments of spinal cord imaging that has the advantage to investigate the two motor system components that are involved in ALS, that is, the lower and upper motor neuron. For all neuroimaging modalities, due to the intrinsic heterogeneity of ALS, larger pooled banks of images with standardized image acquisition and analysis procedures are needed. In this paper, we will review the main findings obtained with MRI, PET, SPECT, and nuclear magnetic resonance spectroscopy in ALS. PMID:24949452

  17. Probiotics and infantile atopic eczema

    Directory of Open Access Journals (Sweden)

    Akelma AZ

    2015-09-01

    Full Text Available Ahmet Zülfikar Akelma,1 Aziz Alper Biten2 1Pediatric Allergy and Immunology Unit, Ankara Kecioren Teaching and Research Hospital, Ankara, Turkey; 2General Directorate of Management Services, Republic of Turkey Ministry of Health, Ankara, Turkey Abstract: Pediatric eczema is a common disease which causes economic and social burden. Its incidence differs among the societies, with an incidence reported to reach up to 20% in developed countries. Eczema is the first allergic disease seen in the childhood, and it is recognized as a precursor for the development of atopic diseases such as asthma, allergic rhinitis, and food allergy in the forthcoming years of children. Increased incidence of eczema in recent years has led to new research in epidemiology, prevention, and intervention of this disease. It is no doubt important to treat itching, rash, and excoriation of the skin; however, treatment of pediatric eczema should not be considered only as a treatment of skin lesions. Considering skin treatment as the tip of the iceberg, proper management of the allergic processes can be accepted as the rest of the iceberg. The role of probiotics in the prevention of atopic eczema is yet to be clarified. Evidence presented by existing studies suggesting that probiotics may prevent pediatric eczema is not strong enough. A positive effect, if any, may be related with onset time, dose, duration, and use of specific probiotics. To date, there is no strong evidence for use of probiotics in the treatment of eczema; however, administration of probiotics in breast-feeding mothers in the prenatal period and in infants in the postnatal period can be accepted as a safe and helpful option in the prevention of eczema. Nevertheless, there are still questions to be answered in the future about probiotic administration for eczema. Clinical use of probiotics will gradually become more widespread when these questions are answered. Based on current information, the administration

  18. Infantile Scurvy: Two Case Reports

    Directory of Open Access Journals (Sweden)

    Leila Ghedira Besbes

    2010-01-01

    Full Text Available Background. Ascorbic acid (vitamin C is necessary for the formation of collagen, reducing free radicals, and aiding in iron absorption. SCURVY, a disease of dietary ascorbic acid deficiency, is uncommon today. It still exists in high risk groups including economically disadvantaged populations with poor nutrition. The incidence of SCURVY in the pediatric population is very low. Cases Report. Here we report two cases of SCURVY revealed by subperiosteal hematoma in children with cerebral palsy and developmental delay. Conclusion. SCURVY is extremely rare in children. Musculoskeletal manifestations are prominent in pediatric SCURVY. Multiple subperiosteal hematomas are an important indicator for diagnosis.

  19. Dibujo infantil como medio de diagnostico

    OpenAIRE

    González Hernando, Elisa

    2015-01-01

    Con este documento se pretende demostrar la importancia que tiene el dibujo infantil en el correcto desarrollo integral de las personas. Se estudia la importancia del dibujo y su valor a la hora de utilizarlo como método de diagnóstico ante determinados aspectos que pueden determinar la vida de una persona. En definitiva lo que se desarrolla en este trabajo de Fin de Grado es el papel que juega el dibujo como herramienta para el seguimiento del desarrollo de los individuos centrándonos ...

  20. A obesidade infantil: um problema emergente

    OpenAIRE

    Sousa, Joana; Loureiro, Isabel; Carmo, Isabel do

    2008-01-01

    A obesidade é um dos problemas de saúde mais graves que afecta crianças e adolescentes a nível mundial. As evidências sugerem que o problema está a agravar-se rapidamente. O aumento da prevalência de obesidade infantil pode fazer com que a próxima geração apresente indicadores de obesidade no adulto superiores aos indicadores actuais. Pelo facto de a obesidade estar intimamente associada a diferentes patologias crónicas faz com que estejamos perante um enorme desafio para o sistema de cuidado...

  1. Reflexo do consumismo infantil no ambiente escolar

    OpenAIRE

    Camargo, Sônia de Fátima; Vieira Júnior, Hélio

    2011-01-01

    Este artigo propôs verificar se há reflexos do consumismo infantil no ambiente escolar. Se á fatores que influenciam nas interações afetivas e subjetivas dos alunos das séries iniciais do Ensino Fundamental na Escola Municipal Professora Ana Cristina de sena município de Sinop – MT. O objetivo do trabalho foi investigar as relações interpessoais em sala de aula e de que forma essas relações acontecem diante do consumismo. Como fundamentação teórica, recorremos aos autores, Zygmunt Bauman, Ann...

  2. Obesidad infantil y consumo de bebidas azucaradas

    OpenAIRE

    Coronel, Julia

    2011-01-01

    La obesidad infantil es un importante problema de salud pública, por su prevalencia y consecuencias sobre las expectativas y la calidad de vida. La pediatría no deja de ser, en cada minuto del crecimiento de los niños, un momento para aprovechar y para poder decir qué tenemos y cómo tenemos que comer, tanto en cantidad como en calidad de nutrientes. El siguiente trabajo de investigación, realizado en la ciudad de Mar del Plata, tiene como objetivo determinar cómo incide el c...

  3. Obesidade infantil: uma proposta de tratamento comportamental

    OpenAIRE

    Cruz, Maria Tereza Monteiro da

    2012-01-01

    O objetivo da presente pesquisa foi avaliar um programa de economia de fichas para modificar o comportamento de crianças obesas. Participaram do estudo dois jovens do sexo masculino com idades de 10 e 11 anos uma adolescente com 15 anos, todos apresentavam peso excessivo para a idade e freqüentavam uma ONG voltada para o tratamento da obesidade infantil e suas mães. A pesquisadora emprestou uma filmadora para os participantes e solicitou que P1 filmasse o almoço e o jantar cinc...

  4. A review of “music and movement” therapies for children with autism: embodied interventions for multisystem development

    Science.gov (United States)

    Srinivasan, Sudha M.; Bhat, Anjana N.

    2013-01-01

    The rising incidence of Autism Spectrum Disorders (ASDs) has led to a surge in the number of children needing autism interventions. This paper is a call to clinicians to diversify autism interventions and to promote the use of embodied music-based approaches to facilitate multisystem development. Approximately 12% of all autism interventions and 45% of all alternative treatment strategies in schools involve music-based activities. Musical training impacts various forms of development including communication, social-emotional, and motor development in children with ASDs and other developmental disorders as well as typically developing children. In this review, we will highlight the multisystem impairments of ASDs, explain why music and movement therapies are a powerful clinical tool, as well as describe mechanisms and offer evidence in support of music therapies for children with ASDs. We will support our claims by reviewing results from brain imaging studies reporting on music therapy effects in children with autism. We will also discuss the critical elements and the different types of music therapy approaches commonly used in pediatric neurological populations including autism. We provide strong arguments for the use of music and movement interventions as a multisystem treatment tool for children with ASDs. Finally, we also make recommendations for assessment and treatment of children with ASDs, and provide directions for future research. PMID:23576962

  5. Genetics Home Reference: Caffey disease

    Science.gov (United States)

    ... Mundlos S, Sillence D, Ala Kokko L, Seidman JG, Cole WG, Jüppner H. A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J ...

  6. Disease: H01395 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H01395 POLG related disorders, including: Alpers syndrome [DS:H01389]; Childhood myocerebro...erlapping symptoms and signs; and range from a rapidly fatal infantile cerebrohepatic disease to a progressi

  7. A multi-system interface module for automating the patient treatment cycle

    International Nuclear Information System (INIS)

    Fox, Tim; Brooks, Ken; Davis, Larry

    1996-01-01

    using the PC-based Windows NT environment. Results: The developed multi-system interface module accesses and shares data from a commercial CT-simulator, a research-based treatment planning system, and a commercial radiation oncology information system in the departmental wide-area network (WAN). The software tool shares the CT-simulator's anatomical contours, images, and plan information with the treatment planning system which eliminates the need for the oncologist to redraw the tumor volumes or custom blocks. The plan and treatment information is updated in the treatment delivery information system. The system runs on any standard PC platform located on the WAN and supports remote data access over phone lines. The interface module directly improves the efficiency of the department by the reduction of redundant data entry. Conclusion: The introduction of a multi-system interface module for sharing common radiation therapy data has decreased the overall treatment planning times without adding complexity. The use of other emerging standards such as DICOM are also being investigated to provide additional support in the future. The concept of the interface module can be used to connect to any data system that supports open connectivity standards

  8. Gratification disorder ("infantile masturbation"): a review.

    Science.gov (United States)

    Nechay, A; Ross, L M; Stephenson, J B P; O'Regan, M

    2004-03-01

    Little has been published on gratification disorder ("infantile masturbation") in early childhood. To expand on the profile of patients diagnosed with this condition. Retrospective case note review; Fraser of Allander Neurosciences Unit paediatric neurology outpatient department 1972-2002. Thirty one patients were diagnosed (11 males and 20 females). Twenty one were referred for evaluation of possible epileptic seizures or epilepsy. The median age at first symptoms was 10.5 months (range 3 months to 5 years 5 months). The median age at diagnosis was 24.5 months (range 5 months to 8 years). The median frequency of events was seven times per week, and the median length 2.5 minutes. Events occurred in any situation in 10 children, and in a car seat in 11. Types of behaviour manifested were dystonic posturing in 19, grunting in 10, rocking in 9, eidetic imagery in 7, and sweating in 6. Two children had been previously diagnosed as having definite epilepsy. In nine cases home video was invaluable in allowing confident diagnosis. Gratification disorder, otherwise called infantile masturbation, is an important consideration in the differential diagnosis of epilepsy and other paroxysmal events in early childhood. Home video recording of events often prevents unnecessary investigations and treatments.

  9. Literatura y juego: Las canciones escenificadas infantiles

    Directory of Open Access Journals (Sweden)

    Cerrillo Torremocha, Pedro C.

    2004-12-01

    Full Text Available The main goal of this paper is to analyze the content and structure of stagey children songs (skipping, rows, swing, playing a game standing in a ring.... These songs are considered to be orally-transmitted compositions, necessarily accompanied by an action that requires either staging or specific body language. I focus on those songs that contain popular and traditional ballads, or parts thereof. Reference is also made to the gradual disappearance of these compositions and the impact of this fact on the way children learn them nowadays, before they are put into writing.

    El autor analiza los contenidos y la estructura organizativa de las canciones escenificadas infantiles (corro, comba, filas, columpio..., que son composiciones que van necesariamente acompañadas de una acción que se representa o, cuando menos, de una serie de gestos muy concretos, deteniéndose expresamente en aquellas canciones infantiles en las que sobreviven romances, o partes de romances, de amplia difusión popular en otros tiempos. En el último apartado, el trabajo se refiere al proceso de desaparición que sufren estas composiciones, lo que provoca un aprendizaje diferente de las mismas (previo paso de la oralidad a la escritura por los niños y niñas de hoy.

  10. Infantile encephalitic beriberi: magnetic resonance imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Wani, Nisar A. [Government Medical College Srinagar, Department of Pediatric Radiology, Jammu and Kashmir, Pin (India); Qureshi, Umar A.; Ahmad, Kaiser; Ahmad, Waseem [Government Medical College Srinagar, Department of Pediatrics, Jammu and Kashmir (India); Jehangir, Majid [Government Medical College Srinagar, Department of Radiology, Jammu and Kashmir (India)

    2016-01-15

    Thiamine deficiency in infants is still encountered in developing countries. It may present with acute neurological manifestations of infantile encephalitic beriberi. To review brain MRI findings in infantile encephalitic beriberi from a single institution. A retrospective review of MRI scans in 22 infants with acute-onset beriberi encephalopathy was carried out. Hyperintense lesions on T2-weighted images were seen symmetrically in the putamen in all patients, in the caudate nuclei in 16/22 (73%), the thalami in 7/22 (32%) and the globi pallidi in 3/22 (14%) of the infants. Altered signal intensity lesions in the cerebral cortex were seen in 7/22 (32%). The mammillary bodies were seen in one infant and the periaqueductal gray matter in two. There was restricted diffusion in 14/22 (64%), and 6/8 children with no evidence of restriction had been imaged ≥10 days after presentation. MR spectroscopy showed increased lactate peak in 6/8 infants (75%). Recognition of symmetrical T2-W hyperintense lesions in the basal ganglia with restricted diffusion and prominent lactate peak may allow early diagnosis of encephalitic beriberi in at-risk infants. (orig.)

  11. Cranial computed tomography in infantile spasms

    International Nuclear Information System (INIS)

    Howitz, P.; Neergaard, K.; Pedersen, H.

    1990-01-01

    Out of 109 children with infantile spasms (IS), prospectively tested during the years 1976 to 1979 in Denmark, 52 children were examined by cranial computed tomography (CT). The classification of IS into cryptogenic (CR), symptomatic (SY) and doubtful (DO) was done clinically without considering the CT-finding. Sixty per cent of the scannings were abnormal. Only 6/30 (20%) of the children in ACTH treatment were found to develop cerebral atrophy which means that this finding is not an obligatory side-effect of ACTH treatment of children with IS. Normal CT-findings were found in 50% of the CR and 50% of the SY + DO-groups, and could not be used as a prognostic tool for estimating the mental development. This was also the case for children with cerebral atrophy. Abnormal CT-findings (minus atrophy) were highly correlated to the group with clinical symptoms and indicate an extremely unsatisfying long-term mental prognosis. CT-scanning is a valuable tool for the examination of clearing children with infantile spasms. (authors)

  12. Multi-System Deconditioning in 3-Day Dry Immersion without Daily Raise

    Directory of Open Access Journals (Sweden)

    Steven De Abreu

    2017-10-01

    Full Text Available Dry immersion (DI is a Russian-developed, ground-based model to study the physiological effects of microgravity. It accurately reproduces environmental conditions of weightlessness, such as enhanced physical inactivity, suppression of hydrostatic pressure and supportlessness. We aimed to study the integrative physiological responses to a 3-day strict DI protocol in 12 healthy men, and to assess the extent of multi-system deconditioning. We recorded general clinical data, biological data and evaluated body fluid changes. Cardiovascular deconditioning was evaluated using orthostatic tolerance tests (Lower Body Negative Pressure + tilt and progressive tilt. Metabolic state was tested with oral glucose tolerance test. Muscular deconditioning was assessed via muscle tone measurement.Results: Orthostatic tolerance time dropped from 27 ± 1 to 9 ± 2 min after DI. Significant impairment in glucose tolerance was observed. Net insulin response increased by 72 ± 23% on the third day of DI compared to baseline. Global leg muscle tone was approximately 10% reduced under immersion. Day-night changes in temperature, heart rate and blood pressure were preserved on the third day of DI. Day-night variations of urinary K+ diminished, beginning at the second day of immersion, while 24-h K+ excretion remained stable throughout. Urinary cortisol and melatonin metabolite increased with DI, although within normal limits. A positive correlation was observed between lumbar pain intensity, estimated on the second day of DI, and mean 24-h urinary cortisol under DI. In conclusion, DI represents an accurate and rapid model of gravitational deconditioning. The extent of glucose tolerance impairment may be linked to constant enhanced muscle inactivity. Muscle tone reduction may reflect the reaction of postural muscles to withdrawal of support. Relatively modest increases in cortisol suggest that DI induces a moderate stress effect. In prospect, this advanced ground

  13. Multisystemic Therapy and Functional Family Therapy Compared on their Effectiveness Using the Propensity Score Method.

    Science.gov (United States)

    Eeren, Hester V; Goossens, Lucas M A; Scholte, Ron H J; Busschbach, Jan J V; van der Rijken, Rachel E A

    2018-01-09

    Multisystemic Therapy (MST) and Functional Family Therapy (FFT) have overlapping target populations and treatment goals. In this study, these interventions were compared on their effectiveness using a quasi-experimental design. Between October, 2009 and June, 2014, outcome data were collected from 697 adolescents (mean age 15.3 (SD 1.48), 61.9% male) assigned to either MST or FFT (422 MST; 275 FFT). Data were gathered during Routine Outcome Monitoring. The primary outcome was externalizing problem behavior (Child Behavior Checklist and Youth Self Report). Secondary outcomes were the proportion of adolescents living at home, engaged in school or work, and who lacked police contact during treatment. Because of the non-random assignment, a propensity score method was used to control for observed pre-treatment differences. Because the risk-need-responsivity (RNR) model guided treatment assignment, effectiveness was also estimated in youth with and without a court order as an indicator of their risk level. Looking at the whole sample, no difference in effect was found with regard to externalizing problems. For adolescents without a court order, effects on externalizing problems were larger after MST. Because many more adolescents with a court order were assigned to MST compared to FFT, the propensity score method could not balance the treatment groups in this subsample. In conclusion, few differences between MST and FFT were found. In line with the RNR model, higher risk adolescents were assigned to the more intensive treatment, namely MST. In the group with lower risk adolescents, this more intensive treatment was more effective in reducing externalizing problems.

  14. Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann?Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report

    OpenAIRE

    Cuisset, Jean-Marie; Sukno, S.; Trauffler, A.; Latour, P.; Dobbelaere, D.; Michaud, L.; Vall?e, L.

    2016-01-01

    Background Niemann?Pick disease type C is a rare inherited neurodegenerative disease involving impaired intracellular lipid trafficking and accumulation of glycolipids in various tissues, including the brain. Miglustat, a reversible inhibitor of glucosylceramide synthase, has been shown to be effective in the treatment of progressive neurological manifestations in pediatric and adult patients with Niemann?Pick disease type C, and has been used in that indication in Europe since 2010. Case pre...

  15. Casting for infantile scoliosis: the pitfall of increased peak inspiratory pressure.

    Science.gov (United States)

    Dhawale, Arjun A; Shah, Suken A; Reichard, Samantha; Holmes, Laurens; Brislin, Robert; Rogers, Kenneth; Mackenzie, William G

    2013-01-01

    Serial cast correction is a popular treatment option for progressive infantile scoliosis. Body casting can lead to chest and abdominal expansion restriction and result in decreased chest wall compliance. There are no studies evaluating the effects of casting on ventilation in infantile scoliosis. This study examines changes in peak inspiratory pressure (PIP) during serial casting for infantile scoliosis. We retrospectively reviewed data obtained from 37 serial Cotrel elongation, derotation, and flexion cast corrections in patients with infantile scoliosis. Patient demographics, radiographic measurements, and anesthesia data were recorded. Anesthesia technique was standardized: children were intubated with rigid endotracheal tubes (ETTs); tidal volume was held constant at 8 to 10 cm(3)/kg using volume control ventilation; and PIP was recorded at baseline, after cast application before window cutout, and after window cutout before extubation. Any complications were documented. We assessed the PIP changes with a repeated measures analysis of variance (ANOVA). The mean age at first casting was 21.8 months (range, 12 to 42 mo) and mean follow-up since first casting was 22.4 months (range, 13 to 40 mo) with mean major Cobb angle of 53±15 degrees. The mean PIP was 15.5±4.9 cm H(2)O before casting, 31.9±7.9 cm H(2)O after cast application, and 20.4±5.6 cm H2O after making windows. There was a 106% increase after casting and 32% increase after window cutout from the baseline PIP levels. There was a significant difference in PIP on repeated measures ANOVA (Pcasting and another had delayed difficulty in breathing. Casting resulted in an increased PIP due to transient restrictive pulmonary process; after windows were cut out, the PIP reduced but not to baseline. In patients with underlying pulmonary disease, the casting process may induce respiratory complications, and a proper period of observation after casting is necessary. Case series, level 4.

  16. The changing face of complicated infantile hemangioma treatment

    Energy Technology Data Exchange (ETDEWEB)

    Menapace, Deanna [Creighton University School of Medicine, Phoenix Regional Campus, Phoenix, AZ (United States); Mayo School of Graduate Medical Education-MN, Department of Otorhinolaryngology, Rochester, MN (United States); Mitkov, Mario [Creighton University School of Medicine, Phoenix Regional Campus, Phoenix, AZ (United States); Towbin, Richard [Phoenix Children' s Hospital, Department of Radiology, Phoenix, AZ (United States); Hogeling, Marcia [University of California, Los Angeles, Division of Dermatology, Santa Monica, CA (United States)

    2016-10-15

    Infantile hemangiomas are the most common vascular tumors of infancy. A multidisciplinary approach including dermatologists, otolaryngologists, plastic surgeons, hematologists/oncologists and interventional/diagnostic radiologists is crucial for appropriate management of children with complicated infantile hemangiomas. Since its unforeseen discovery in 2008, propranolol has become the first-line treatment for infantile hemangiomas, eclipsing systemic corticosteroids and radiologic intervention. There are still, however, uncommon indications for more aggressive interventional management. We review the 2014-updated International Society for the Study of Vascular Anomalies (ISSVA) classification for vascular anomalies. Additionally, we suggest management algorithms for complicated lesions, including recommendations for radiologic and surgical intervention. (orig.)

  17. Maternal characteristics and toddler temperament in infantile anorexia.

    Science.gov (United States)

    Chatoor, I; Ganiban, J; Hirsch, R; Borman-Spurrell, E; Mrazek, D A

    2000-06-01

    To explore the association between specific maternal characteristics, maternal perceptions of toddler temperament, and infantile anorexia. Three groups of toddlers (aged 12-37 months) participated in this study: toddlers with infantile anorexia (n = 34), picky eaters (n = 34), and healthy eaters (n = 34). Mothers completed questionnaires that assessed their own eating attitudes, marital satisfaction, and their toddlers' temperament, and an interview that explored their attachment representations. Mothers and toddlers were videotaped during a feeding session, and toddlers were weighed and measured. Temperament ratings differentiated between infantile anorexics and healthy eaters (p anorexia.

  18. Serum cholinesterase activity in infantile and juvenile spinal muscular atrophy.

    Science.gov (United States)

    Niebroj-Dobosz, I; Hausmanowa-Petrusewicz, I

    1989-09-01

    Serum acetylcholinesterase (AChE) and pseudocholinesterase (ChE) activity in infantile and juvenile spinal muscular atrophy (SMA) was determined. The total AChE activity was either normal or decreased in the childhood SMA (Type 1), the other SMA groups and disease controls (ALS, X-linked SMA). In the majority of SMA Type 1 cases (6/7 tested) an absence of the asymmetric A12 form was found. This was accompanied by changes in the other asymmetric and globular forms. The latter was, however, not specific for SMA Type 1 cases. The ChE activity was increased in the majority of SMA cases as well as disease controls. The asymmetric A12 ChE form was increased in all SMA Type 3 cases, the values of this form in SMA Type 1 was variable. A change in the ChE globular forms in SMA Type 1 and SMA Type 2 was a frequent finding. It is suggested that the absence of the asymmetric A12 AChE form in SMA Type 1 arises because of muscle cell immaturity and undeveloped muscle-nerve interactions. The reason of ChE changes is obscure.

  19. Infantile Systemic Hyalinosis: A Case Report with a Novel Mutation

    Directory of Open Access Journals (Sweden)

    Siham Al Sinani

    2013-01-01

    Full Text Available Infantile Systemic Hyalinosis (ISH (OMIM 236490 is a rare, progressive and fatal autosomal recessive disorder characterized by multiple subcutaneous skin nodules, gingival hypertrophy, osteopenia, joint contractures, failure to thrive, diarrhea with protein losing enteropathy, and frequent infections. There is diffuse deposition of hyaline material in the skin, gastrointestinal tract, muscle and endocrine glands. It is caused by mutations in the ANTXR2 (also known as CMG2 gene, which encodes a trans-membranous protein involved in endothelial development and basement membrane-extracellular matrix assembly. We describe a child with classical features of ISH presenting in infancy with severe chronic debilitating pain and progressive joint contractures. The diagnosis was confirmed by molecular DNA sequencing of ANTXR2 gene which revealed a novel homozygous mutation not previously reported; 79 bp deletion of the entire exon 11 (c.867_945del, p.E289DfsX22. Although this is the first reported case of ISH in Oman, we believe that the disease is under-diagnosed since children affected with this lethal disease pass away early in infancy prior to establishing a final diagnosis.

  20. Variables que intervienen en el abandono físico o negligencia infantil comparativamente con otros tipos de maltrato infantil

    OpenAIRE

    Moreno Manso, Juan Manuel

    2013-01-01

    Es un trabajo de investigación en materia de protección de menores, donde se realiza un análisis comparativo entre las distintas tipologías de maltrato infantil, y más concretamente entre el abandono físico o negligencia infantil y el resto de tipos de maltrato a la infancia. La tesis Doctoral se enmarca en los servicios sociales de protección a la Infancia de la ciudad de Badajoz y es el primer estudio científico sobre el maltrato infantil que se realiza en la Comunidad Autónoma de Extr...

  1. Prevención y promoción del desarrollo infantil: una experiencia en las Escuelas Infantiles

    OpenAIRE

    Ángela Díaz-Herrero; María Teresa Martínez-Fuentes

    2009-01-01

    Este trabajo presenta un programa de prevención y promoción del desarrollo infantil dirigido a 136 niños entre 1 y 3 años de edad escolarizados en escuela infantil entre los cursos académicos 2005-2006 y 2007-2008. Se efectuaron dos valoraciones anuales del desarrollo psicomotor mediante las Escalas Bayley de Desarrollo Infantil (Bayleyayley, 1993). Tras la primera evaluación se dieron recomendaciones tanto a la familia como a los educadores para fortalecer las competencias de los niños. Los ...

  2. Role of ARX Gene in Infantile Spasms and Dystonia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-08-01

    Full Text Available The role of ARX gene in a syndrome of infantile spasms with generalized dystonia was investigated in 6 boys from 4 families at the University of Florence, Italy, and other centers in Italy, Japan, and USA.

  3. Infantile Onset Myasthenia Gravis with MuSK Antibodies

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2006-08-01

    Full Text Available A late infantile case of myasthenia gravis (MG with anti-muscle-specific receptor tyrosine kinase (MuSK high antibody (Ab titer is reported from Kyushu University, Fukuoka; and Nagasaki University, Japan.

  4. Multisystemic Therapy for social, emotional, and behavioral problems in youth aged 10-17.

    Science.gov (United States)

    Littell, J H; Popa, M; Forsythe, B

    2005-07-20

    Multisystemic Therapy (MST) is an intensive, home-based intervention for families of youth with social, emotional, and behavioral problems. Masters-level therapists engage family members in identifying and changing individual, family, and environmental factors thought to contribute to problem behavior. Intervention may include efforts to improve communication, parenting skills, peer relations, school performance, and social networks. Most MST trials were conducted by program developers in the USA; results of one independent trial are available and others are in progress. To provide unbiased estimates of the impacts of MST on restrictive out-of-home living placements, crime and delinquency, and other behavioral and psychosocial outcomes for youth and families. Electronic searches were made of bibliographic databases including the Cochrane Library, C2-SPECTR, PsycINFO, Science Direct and Sociological Abstracts) as well as government and professional websites, from 1985 to January 2003. Reference lists of articles were examined, and experts were contacted. Studies where youth (age 10-17) with social, emotional, and/or behavioral problems were randomised to licensed MST programs or other conditions (usual services or alternative treatments). Two reviewers independently reviewed 266 titles and abstracts; 95 full-text reports were retrieved, and 35 unique studies were identified. Two reviewers independently read all study reports for inclusion. Eight studies were eligible for inclusion. Two reviewers independently assessed study quality and extracted data from these studies.Significant heterogeneity among studies was identified (assessed using Chi-square and I(2)), hence random effects models were used to pool data across studies. Odds ratios were used in analyses of dichotomous outcomes; standardised mean differences were used with continuous outcomes. Adjustments were made for small sample sizes (using Hedges g). Pooled estimates were weighted with inverse variance

  5. CT images of infantile viral encephalitis

    International Nuclear Information System (INIS)

    Sugimoto, Tateo; Okazaki, Hitoshi; Woo, Man

    1985-01-01

    Cranial CT scanning was undertaken in 40 patients with infantile viral encephalitis seen from 1977 to 1983. According to the pathogenic viruses, abnormal CT findings were detected most frequently in cases of herpes simplex encephalitis (HSE), followed by non-eruptive viral encephalitis, measles encephalitis, and rubella encephalitis in that order, which coincided well with neurological prognosis. Although CT findings lay within a normal range in cases of measles encephalitis, except a case in which cerebral ventricle was slightly dilated, the degree of consciousness disturbance was unfavorable and it persisted long. This revealed that there is no distinct correlation between the degree of consciousness disturbance and CT findings. Normal CT findings were detected in 13% of patients aged less than 5 years and 76.5% of patients aged 5 years or more. In many patients who had an attack of viral encephalitis at the age of 5 years or more, epileptic seizures occurred frequently, even though CT findings were normal. (Namekawa, K.)

  6. Tecnologia simplificada na enfermagem materno infantil

    Directory of Open Access Journals (Sweden)

    Selma Campestrini

    1991-09-01

    Full Text Available A autora apresenta três modelos de tecnologia simplificada da enfermagem materno infantil: o equipamento didático SEIO COBAIA para treinar exercícios e massagens da mama e mamilo; a peça indumentária SUPRETRAUMA - sutiã preventivo de traumatismo mamilar - usado por gestantes; e, a técnica para reverter mamilo umbilicado durante o puerperio imediato. Além de corroborar na promoção do aleitamento materno e na prevenção de desmame precoce, demonstra a possibilidade da enfermagem relacionar o saber teórico-científico com o saber tecnico-prático, na saúde da mulher e da criança, com tecnologia adequada às necessidades, à compreensão e ao bem estar da população.

  7. O brincar criativo e a obesidade infantil

    OpenAIRE

    Mishima,Fernanda Kimie Tavares; Barbieri,Valéria

    2009-01-01

    A obesidade infantil é uma das doenças mais preocupantes atualmente, o estudo de seus fatores psicológicos é escasso, podendo se vincular a características específicas do brincar. Este trabalho objetiva investigar se há algum prejuízo causado pela dificuldade de expressão da criatividade no brincar de crianças obesas e, em caso positivo, qual a sua natureza. Foram realizados cinco estudos de caso com meninos obesos entre 7 e 10 anos, de nível sócio-econômico médio e famílias intactas, com apl...

  8. Smoking during pregnancy and infantile colic

    DEFF Research Database (Denmark)

    Søndergaard, Charlotte; Henriksen, Tine Brink; Obel, Carsten

    2001-01-01

    during this period. Adjustment for maternal age, parity, marital status, alcohol intake, birth weight, gestational age, breastfeeding, caffeine intake postpartum, and paternal smoking did not change the effect measures. Conclusion. The results indicate that maternal smoking during pregnancy may increase......Objective. To evaluate the association between maternal smoking during pregnancy and infantile colic (IC). Methods. A follow-up study of singleton infants delivered by Danish mothers at the Aarhus University Hospital from May 1991 to February 1992 and still living in the municipality of Aarhus...... questionnaire and based on Wessel's criteria, except that we used only the crying criterion. Results. IC was seen in 10.8% of all infants. We observed a twofold increased risk of IC among infants whose mothers smoked 15 or more cigarettes per day during their pregnancy(relative risk: 2.1; 95% confidence...

  9. Maltrato infantil en escuela ecuatoriana de Ambato

    OpenAIRE

    Romero Viamonte, Katherine; Villacís Salazar, Marina Isabel; Jara Vázquez, Ernesto

    2016-01-01

    Introducción: El maltrato infantil se define como el abuso y la desatención de que son objeto los menores de 18 años; incluye el maltrato físico o psicológico, abuso sexual, desatención, negligencia y explotación comercial o de otro tipo que puedan causar un daño a la salud, al desarrollo o la dignidad del niño, y poner en peligro su supervivencia, en el contexto de una relación de responsabilidad, confianza o poder. Método: Se realizó un estudio prospectivo, con enfoque cuali-cuantitativo, m...

  10. Infantile Perineal Protrusion in Two Monochorionic Twins

    Directory of Open Access Journals (Sweden)

    Paola Cavicchioli

    2014-11-01

    Full Text Available Case Report - Two female monochorionic-monoamniotic twins showed the same kind of infantile perineal protrusion (IPP at birth. Lesions in both twins progressively healed until resolution in 6 weeks' time; none of the twins have manifested, till date, alvus disturbances. Discussion and Literature Review - A literature review numbers approximately 100 reports of IPP. This condition has been classically classified into three categories: congenital/familiar (i.e., female sex, positive parental history of IPP, acquired (mainly due to constipation, and associated with lichen sclerosus et atrophicus. Conclusions and Final Remarks - This case report describes, for the first time, the presence of IPP in monochorionic-monoamniotic twins, supporting the existence of hereditary/genetic factors in the developing of this condition.

  11. Solitary infantile choriocarcinoma of the liver: MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Hoef, Marianne van der; Willi, Ulrich V.; Huisman, Thierry A.G.M. [University Children' s Hospital Zurich, Department of Diagnostic Imaging, Zurich (Switzerland); Niggli, Felix K. [University Children' s Hospital Zurich, Department of Paediatrics, Zurich (Switzerland)

    2004-10-01

    Infantile hepatic choriocarcinoma is a rare, highly malignant germ-cell tumour believed to result from a choriocarcinoma of the placenta that spreads to the child. Most infants present with a characteristic clinical picture of anaemia, hepatomegaly and precocious puberty. Imaging findings, including conventional MRI, may be non-specific. To improve the accuracy of diagnosis, we present the imaging findings of contrast-enhanced dynamic MRI in a 4.5-month-old boy with infantile hepatic choriocarcinoma. (orig.)

  12. Computer assisted analysis of hand radiographs in infantile hypophosphatasia carriers

    International Nuclear Information System (INIS)

    Chodirker, B.N.; Greenberg, C.R.; Manitoba Univ., Winnipeg, MB; Roy, D.; Cheang, M.; Evans, J.A.; Manitoba Univ., Winnipeg, MB; Manitoba Univ., Winnipeg, MB; Reed, M.H.; Manitoba Univ., Winnipeg, MB

    1991-01-01

    Hand radiographs of 49 carriers of infantile hypophosphatasia and 67 non-carriers were evaluated using two Apple IIe Computer Programs and Apple Graphics Tablet. CAMPS was used to determine the bone lengths and calculate the metacarpophalangeal profiles. A newly developed program (ADAM) was used to determine bone density based on percent cortical area of the second metacarpal. Carriers of infantile hypophosphatasia had significantly less dense bones. (orig.)

  13. Pornografia infantil na Internet: violência sexual ou pornografia?

    Directory of Open Access Journals (Sweden)

    Tatiana Savoia Landini

    2000-01-01

    Full Text Available O artigo versa sobre a proliferação da pornografia infantil na internet. Argumento que uma possível explicação para o aumento dessa troca seja o não entendimento, por parte dos internautas, de que a pornografia infantil é uma forma de violência sexual contra a criança. Essa visão é engendrada pela especificidades da troca desse tipo de material na rede.

  14. Pornografia infantil na Internet: violência sexual ou pornografia?

    OpenAIRE

    Tatiana Savoia Landini

    2000-01-01

    O artigo versa sobre a proliferação da pornografia infantil na internet. Argumento que uma possível explicação para o aumento dessa troca seja o não entendimento, por parte dos internautas, de que a pornografia infantil é uma forma de violência sexual contra a criança. Essa visão é engendrada pela especificidades da troca desse tipo de material na rede.

  15. El maltrato infantil: un problema mundial

    Directory of Open Access Journals (Sweden)

    SANTANA-TAVIRA ROSALINDA

    1998-01-01

    Full Text Available Al abordar el maltrato infantil se presentan diversos problemas: desconocimiento de la verdadera proporción de dicha problemática; raíces culturales e históricas profundas; diversidad de opiniones en cuanto a su definición y clasificación; dificultades en la investigación y, finalmente, una diversidad de consideraciones sobre sus repercusiones y su manejo terapéutico. En el presente artículo se estudia el maltrato infantil desde sus antecedentes históricos, así como sus clasificaciones, sus definiciones y su epidemiología. Asimismo, se revisan las repercusiones y se plantean las alternativas de tratamiento que en la bibliografía existente se han manejado como fundamentales para enfrentar este fenómeno cada vez más alarmante. Queda subrayada la necesidad de unificar criterios en cuanto a la definición y clasificación de información científica en torno a datos demográficos que, finalmente, hablarán de la realidad del problema, de los avances relacionados con sus causas, su diagnóstico, sus medidas preventivas y su tratamiento. Es fundamental utilizar medidas tendientes a prevenir el maltrato, pues una gran parte de los problemas en el niño se ven reflejados en la vida adulta. Se comparan las distintas clasificaciones en torno al tema, así como las características tanto del agredido como del agresor en los distintos tipos de maltrato.

  16. La red sobre trabajo infantil peligroso (Red Tip

    Directory of Open Access Journals (Sweden)

    Walter Varillas

    2003-01-01

    Full Text Available En el mundo, aproximadamente 351.7 millones de niños entre 5 y 17 años realizaban algún tipo de actividad económica, de ellos 170.5 millones (48.5% realizaban algún tipo de trabajo considerado peligroso. Un alto porcentaje se encuentra en la agricultura, otros en minas, manufacturas, ladrilleras, predominantemente en la economía informal. El Convenio 138 (cobre la edad mínima de admisión en el empleo de la OIT y el Convenio 182 (sobre las peores formas de trabajo infantil, definen como trabajo infantil peligroso el que puede afectar la salud, seguridad y moralidad de los menores. Estudios específicos sobre los menores muestran su susceptibilidad particular frente a los riesgos laborales, aumentando la peligrosidad para su normal desarrollo y crecimiento: "los niños no son adultos pequeños". Los profesionales de la seguridad y salud en el trabajo pueden colaborar con los profesionales y las organizaciones especializadas en el trabajo infantil, en la definición y caracterización de lo que significa el trabajo infantil peligroso. Para ello se ha conformado la Red sobre Trabajo Infantil Peligroso (Red TIP, con la finalidad de articular estos dos espacios, orientados a eliminar el trabajo infantil peligroso y rescatar al menor y devolverle la oportunidad de sonreír ahora y en el futuro.

  17. Infantile onset diabetes mellitus in developing countries - India

    Science.gov (United States)

    Varadarajan, Poovazhagi

    2016-01-01

    Infantile onset diabetes mellitus (IODM) is an uncommon metabolic disorder in children. Infants with onset of diabetes mellitus (DM) at age less than one year are likely to have transient or permanent neonatal DM or rarely type 1 diabetes. Diabetes with onset below 6 mo is a heterogeneous disease caused by single gene mutations. Literature on IODM is scanty in India. Nearly 83% of IODM cases present with diabetic keto acidosis at the onset. Missed diagnosis was common in infants with diabetes (67%). Potassium channel mutation with sulphonylurea responsiveness is the common type in the non-syndromic IODM and Wolcott Rallison syndrome is the common type in syndromic diabetes. Developmental delay and seizures were the associated co-morbid states. Genetic diagnosis has made a phenomenal change in the management of IODM. Switching from subcutaneous insulin to oral hypoglycemic drugs is a major clinical breakthrough in the management of certain types of monogenic diabetes. Mortality in neonatal diabetes is 32.5% during follow-up from Indian studies. This article is a review of neonatal diabetes and available literature on IODM from India. PMID:27022444

  18. Polycystic kidney disease in a patient with achondroplasia ...

    African Journals Online (AJOL)

    Autosomal dominant polycystic kidney disease is a multisystem disease involving many organs. An association with other diseases such as tuberous sclerosis, von Hippel-Lindau disease and Marfan syndrome have been previously described. We describe a 35 year old female with achondroplasia who developed ...

  19. Disease: H00788 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available iant of the X-linked recessive dyskeratosis congenita. It is a multisystem disorder characterized by intraut... found in the disease. Developmental disorder DKC1 [HSA:1736] [KO:K11131] ... Dyskeratosis congenita is des...ezard JP, Peuchmaur M, Vulliamy T, Dokal I, Verloes A ... TITLE ... Further delineation of the congenital form of X-linked dyskeratosis

  20. [Rendu-Osler-Weber disease

    NARCIS (Netherlands)

    Sys, L.M.; Hoogen, F.J.A. van den

    2005-01-01

    Rendu-Osler-Weber disease or hereditary hemorrhagic telangiectasia (HHT) is a multisystem autosomal dominant hereditary disorder. The disorder is manifested by multiple dysplasia of blood vessels of the skin and mucous membranes. This results in recurrent and sometimes severe bleeding, of which

  1. Intestinal lymphangiectasia in a patient with infantile systemic hyalinosis syndrome: a rare cause of protein-losing enteropathy.

    Science.gov (United States)

    Alreheili, Khalid; AlMehaidib, Ali; Alsaleem, Khalid; Banemi, Mohammad; Aldekhail, Wajeeh; Al-Mayouf, Sulaiman M

    2012-01-01

    Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disease. Typically, ISH patients present with progressive painful joint contractures, intractable diarrhea, hyperpigmented skin lesions, and peri-anal fleshy nodules. We report a case of a 19-month-old male child with atypical ISH presentation. His main clinical finding was protein-losing enteropathy due to intestinal lymphangectasia. This report is intended to enhance awareness about the gastrointestinal tract presentation of ISH.

  2. Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 -10p15.1 and 6q22.31 duplication.

    Science.gov (United States)

    Jones, Kevin; Weiss, Shelly K; Minassian, Berge

    2016-07-01

    Patients presenting with infantile spasms, dysmorphic features, and periventricular nodular heterotopia may benefit from genetic copy number variation microarray, or whole-exome sequencing to identify candidate genes. This will allow personalized diagnosis and prognostication and the eventual understanding of single and combined gene functions in brain health and disease.

  3. SAFETY OF MIXED ARTIFICIAL NUTRITION IN PATIENTS WITH SEVERE MULTISYSTEM CRANIOCEREBRAL TRAUM

    Directory of Open Access Journals (Sweden)

    A. P. Shakotko

    2017-01-01

    when mixed artificial nutrition was initiated (on day 3 of artificial nutrition in 11 patients, on day 5 in 3 patients and by day 7 in 6 patients. The introduction of PN “three in one” mixture was accompanied by a slight increase in the concentration of TG 2 hours after the start of the infusion and did not affect the dynamics of pulmonary gas exchange. The introduction of PN was accompanied by the development of hyperglycemia. The increase of glucose in venous blood serum was noted 2 and 12 hours after the onset of PN.CONCLUSION. Mixed artificial nutrition in patients with severe multisystem craniocerebral trauma does not lead to the development of hypertriglyceridemia and violation of pulmonary gas exchange and allows to achieve nutritional therapy goals.

  4. Langerhans Cells Histiocytosis: Features of Clinical and Laboratory Manifestations and Course of the Disease

    Directory of Open Access Journals (Sweden)

    O.I. Dorosh

    2014-08-01

    Results of the Study. An analysis of 25 cases of LCH in children was presented. Monosystem LCH most often affects the skeletal system. Multisystem LCH is characterized by diversity of clinical manifestations, more severe course and high risk of death. One third of patients with multisystem LCH are infants. In children with monosystem LCH we observed complete clinical response to first-line therapy. At the same time, complete response to polychemotherapy is observed only in 30 % of children with multisystem LCH. Prognosis of the disease depends on the initial affection of risk organs (bone marrow, liver, lungs, spleen, their dysfunction and the child’s age at the time of diagnosis. Process reactivation in children with multisystem LCH occurs in the first 12 months from the onset of the disease.

  5. La literatura infantil como medio de prevención del abuso sexual infantil

    OpenAIRE

    San Emeterio Herrería, Paula

    2016-01-01

    RESUMEN: El maltrato infantil y, especialmente, el abuso sexual a menores, es un fenómeno que siempre ha estado presente y, quizás, hoy en día se detecta en mayor medida, aunque no lo suficiente. La trascendencia de tratar este tema y formular métodos de prevención no solo recae en el número de niños y adolescentes que pueden verse afectados, si no, también, en la dificultad de su detección, así como, en la gravedad de sus consecuencias. Existen abundantes recursos y programas para prevenir e...

  6. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.

    Science.gov (United States)

    Jiang, Chen; Gai, Nan; Zou, Yongyi; Zheng, Yu; Ma, Ruiyu; Wei, Xianda; Liang, Desheng; Wu, Lingqian

    2017-01-01

    Galloway-Mowat syndrome (GMS) is a very rare autosomal-recessive disorder characterized by nephrotic syndrome associated with microcephaly, and various central nervous system abnormalities, mostly cerebral hypoplasia or cerebellar atrophy, intellectual disability and neural-migration defects. WDR73 is the only gene known to cause GMS, and has never been implicated in other disease. Here we present a Chinese consanguineous family with infantile onset intellectual disability and cerebellar hypoplasia but no microcephaly. Whole exome sequencing identified a WDR73 p.W371G missense mutation. The mutation is confirmed to be segregated in this family by Sanger sequencing according to a recessive inheritance pattern. It is predicted to be deleterious by multiple algorithms and affect highly conserved site. Structural modeling revealed conformational differences between the wild type protein and the p.W371G protein. Real-time PCR and Western blotting revealed altered mRNA and protein levels in mutated samples. Our study indicates the novel WDR73 p.W371G missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in recessive mode of inheritance. Our findings imply that microcephaly is a variable phenotype in WDR73-related disease, suggest WDR73 to be a candidate gene of severe intellectual disability and cerebellar hypoplasia, and expand the molecular spectrum of WDR73-related disease. Copyright © 2016 Elsevier B.V. All rights reserved.

  7. Psychiatric disorders in the parents of individuals with infantile autism: a case-control study

    DEFF Research Database (Denmark)

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

    2007-01-01

    The rates and types of psychiatric disorders were studied in the parents of individuals with infantile autism (IA).......The rates and types of psychiatric disorders were studied in the parents of individuals with infantile autism (IA)....

  8. TFG-MET fusion in an infantile spindle cell sarcoma with neural features

    NARCIS (Netherlands)

    Flucke, U.E.; Noesel, M.M. van; Wijnen, M.; Zhang, L.; Chen, C.L.; Sung, Y.S.; Antonescu, C.R.

    2017-01-01

    An increasing number of congenital and infantile sarcomas displaying a primitive, monomorphic spindle cell phenotype have been characterized to harbor recurrent gene fusions, including infantile fibrosarcoma and congenital spindle cell rhabdomyosarcoma. Here, we report an unusual spindle cell

  9. Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq

    Directory of Open Access Journals (Sweden)

    Manabu Nakayama

    2017-03-01

    Full Text Available Autoinflammatory diseases occupy one of a group of primary immunodeficiency diseases that are generally thought to be caused by mutation of genes responsible for innate immunity, rather than by acquired immunity. Mutations related to autoinflammatory diseases occur in 12 genes. For example, low-level somatic mosaic NLRP3 mutations underlie chronic infantile neurologic, cutaneous, articular syndrome (CINCA, also known as neonatal-onset multisystem inflammatory disease (NOMID. In current clinical practice, clinical genetic testing plays an important role in providing patients with quick, definite diagnoses. To increase the availability of such testing, low-cost high-throughput gene-analysis systems are required, ones that not only have the sensitivity to detect even low-level somatic mosaic mutations, but also can operate simply in a clinical setting. To this end, we developed a simple method that employs two-step tailed PCR and an NGS system, MiSeq platform, to detect mutations in all coding exons of the 12 genes responsible for autoinflammatory diseases. Using this amplicon sequencing system, we amplified a total of 234 amplicons derived from the 12 genes with multiplex PCR. This was done simultaneously and in one test tube. Each sample was distinguished by an index sequence of second PCR primers following PCR amplification. With our procedure and tips for reducing PCR amplification bias, we were able to analyze 12 genes from 25 clinical samples in one MiSeq run. Moreover, with the certified primers designed by our short program—which detects and avoids common SNPs in gene-specific PCR primers—we used this system for routine genetic testing. Our optimized procedure uses a simple protocol, which can easily be followed by virtually any office medical staff. Because of the small PCR amplification bias, we can analyze simultaneously several clinical DNA samples with low cost and can obtain sufficient read numbers to detect a low level of

  10. Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.

    Science.gov (United States)

    Nakayama, Manabu; Oda, Hirotsugu; Nakagawa, Kenji; Yasumi, Takahiro; Kawai, Tomoki; Izawa, Kazushi; Nishikomori, Ryuta; Heike, Toshio; Ohara, Osamu

    2017-03-01

    Autoinflammatory diseases occupy one of a group of primary immunodeficiency diseases that are generally thought to be caused by mutation of genes responsible for innate immunity, rather than by acquired immunity. Mutations related to autoinflammatory diseases occur in 12 genes. For example, low-level somatic mosaic NLRP3 mutations underlie chronic infantile neurologic, cutaneous, articular syndrome (CINCA), also known as neonatal-onset multisystem inflammatory disease (NOMID). In current clinical practice, clinical genetic testing plays an important role in providing patients with quick, definite diagnoses. To increase the availability of such testing, low-cost high-throughput gene-analysis systems are required, ones that not only have the sensitivity to detect even low-level somatic mosaic mutations, but also can operate simply in a clinical setting. To this end, we developed a simple method that employs two-step tailed PCR and an NGS system, MiSeq platform, to detect mutations in all coding exons of the 12 genes responsible for autoinflammatory diseases. Using this amplicon sequencing system, we amplified a total of 234 amplicons derived from the 12 genes with multiplex PCR. This was done simultaneously and in one test tube. Each sample was distinguished by an index sequence of second PCR primers following PCR amplification. With our procedure and tips for reducing PCR amplification bias, we were able to analyze 12 genes from 25 clinical samples in one MiSeq run. Moreover, with the certified primers designed by our short program-which detects and avoids common SNPs in gene-specific PCR primers-we used this system for routine genetic testing. Our optimized procedure uses a simple protocol, which can easily be followed by virtually any office medical staff. Because of the small PCR amplification bias, we can analyze simultaneously several clinical DNA samples with low cost and can obtain sufficient read numbers to detect a low level of somatic mosaic mutations.

  11. Eritema infeccioso: un exantema infantil a considerar en la práctica diaria Fifth disease or infectious erythema: a childhood rash to consider in the daily medical practice

    Directory of Open Access Journals (Sweden)

    AD Pérez-Elizondo

    Full Text Available Se presenta el caso de un escolar con febrícula y leve ataque del estado general, quien desarrolla una erupción maculosa en mejillas, pocos días después un exantema en "encaje" o reticulado en tronco posterior y parte proximal de extremidades inferiores, compatible con la quinta enfermedad y confirmado por la morfología lesional característica y la inmuno-serología (IgM.We present a five years old child with a mild fever and malaise, a maculoedematous eruption on cheeks and a "lace" exanthema located on posterior aspect of the trunk and lower limbs, developed after a few days. A fifth disease was diagnosticated based on characteristic morphological presentation and immunoserological studies.

  12. Salud infantil, expresión corporal, enfoque globalizador en educación infantil : programa preventivo de la obesidad infantil

    OpenAIRE

    Torres Soltero, Fátima

    2012-01-01

    La obesidad infantil, es mucho más que un problema simplemente estético, pues su presencia, como hemos podido observar, conlleva una serie de riesgos para los niños/as, en este caso, afectados. Y lo más importante es que estos niños/as cuando sean adultos sepan prevenirla

  13. Experimental reproduction of postweaning multisystemic wasting syndrome (PMWS) in pigs in Sweden and Denmark with a Swedish isolate of porcine circovirus type 2

    DEFF Research Database (Denmark)

    Hasslung, F.; Wallgren, P.; Hansen, Anne-Sofie Ladekjær

    2005-01-01

    An experimental model using 3-day-old snatch-farrowed colostrum-deprived piglets co-infected with porcine circovirus type 2 (PCV2) and porcine parvovirus (PPV) is at present one of the best methods to study factors affecting development of postweaning multisystemic wasting syndrome (PMWS). A Swed......An experimental model using 3-day-old snatch-farrowed colostrum-deprived piglets co-infected with porcine circovirus type 2 (PCV2) and porcine parvovirus (PPV) is at present one of the best methods to study factors affecting development of postweaning multisystemic wasting syndrome (PMWS...

  14. CEREN: un centro enfocado en la calidad de vida de la población infantil

    OpenAIRE

    Centeno, Analía

    2016-01-01

    El Centro de Estudios en Nutrición y Desarrollo Infantil (CEREN) aborda e interviene en problemáticas de alimentación, nutrición, cuidados, crecimiento y desarrollo infantil. Fue creado con un claro enfoque social, integral y multidisciplinario con el fin de mejorar la calidad de vida de la población infantil de la Provincia.

  15. Creatividad y Educación Artística en la etapa de infantil

    OpenAIRE

    Hernando Martín, Carmen

    2013-01-01

    En el TFG propuesto se desarrolla la creatividad y la educación artística en la etapa de infantil. Para ello, haré hincapié en el dibujo infantil y la representación de la figura humana. Grado en Educación Infantil

  16. Distrofia neuroaxonal infantil: relato de dois casos

    Directory of Open Access Journals (Sweden)

    SCOLA ROSANA HERMINIA

    1999-01-01

    Full Text Available Descrevemos dois casos de distrofia neuroaxonal infantil ou doença de Seitelberger, que é doença rara, neurodegenerativa, com herança autossômica recessiva. O primeiro caso, sexo masculino, com 8 anos de idade, apresentava atraso do desenvolvimento psicomotor, ataxia e fraqueza muscular. Ao exame físico foi encontrado nistagmo horizontal e vertical com palidez do disco óptico, hipotonia e arreflexia profunda. O segundo caso, sexo masculino, com 1 ano e 6 meses de idade, apresentava atraso do desenvolvimento psicomotor e convulsões. No exame físico, apresentava atrofia de nervo óptico, hipertonia e hiperreflexia. A biópsia de nervo sural de ambos os pacientes mostrou aumento dos axônios, compatível com distrofia neuroaxonal. As características clínicas pleomórficas, bem como os achados neurofisiológicos variáveis tornam difícil firmar o diagnóstico, o qual é ajudado pela confirmação anatomopatológica dos esferóides neuroaxonais.

  17. Aleitamento e parasitismo intestinal materno-infantil

    Directory of Open Access Journals (Sweden)

    Costa-Macedo Lêda Maria

    2000-01-01

    Full Text Available Entre março e maio de 1991, a prevalência das enteroparasitoses e o aleitamento materno foram determinados simultaneamente em 208 crianças menores de dois anos de idade e suas mães, atendidas em Instituição Pública de Saúde no Rio de Janeiro. Através da técnica de sedimentação, detectou-se positividade geral de 12,7% para as crianças, e 37,3% para as mães. Ascaris lumbricoides foi o parasito mais prevalente nas mulheres (12,7% e nos lactentes (4,3%. A distribuição dos parasitos entre os grupos de aleitamento não variou para as mulheres, mas foi estatisticamente significativa em relação às crianças (p < 0,05. Nenhuma criança em aleitamento exclusivo apresentou parasitose. Verificou-se correlação positiva entre parasitismo e desmame. Cerca de 60% das crianças parasitadas eram filhas de mães também parasitadas, sendo detectado um risco 1,7 vezes maior destas crianças virem a apresentar algum parasito intestinal. Acreditamos que a mãe parasitada possa influenciar na freqüência do parasitismo infantil.

  18. Musculoskeletal Findings in Behcet's Disease

    Directory of Open Access Journals (Sweden)

    Ali Bicer

    2012-01-01

    Full Text Available Behcet's disease is a multisystem disease characterized by recurrent oral and genital ulcers, relapsing uveitis, mucocutaneous, articular, gastrointestinal, neurologic, and vascular manifestations. Rheumatologic manifestations may also occur in Behcet's disease, and arthritis and arthralgia are the most common musculoskeletal findings followed by enthesopathy, avascular necrosis, myalgia, and myositis. Although the main pathology of Behcet's disease has been known to be the underlying vasculitis, the etiology and exact pathogenesis of the disease are still unclear. Musculoskeletal findings of Behcet's disease, the relationship between Behcet's disease and spondyloarthropathy disease complex, and the status of bone metabolism in patients with Behcet's disease were discussed in this paper.

  19. Increased precipitation of spasms in an animal model of infantile spasms by prenatal stress exposure.

    Science.gov (United States)

    Shi, Xiu-Yu; Ju, Jun; Zou, Li-Ping; Wang, Juan; Shang, Ning-Xiu; Zhao, Jian-Bo; Wang, Jing; Zhang, Jun-Yan

    2016-05-01

    Infantile spasms (IS) represent a serious epileptic syndrome, called West syndrome (WS) that occurs in the early infantile age. Although several hypotheses and animal models have been proposed to explain the pathogenesis of IS, the pathophysiology of IS has not been elucidated. Recently, we proposed a hypothesis for IS under prenatal stress exposure (also called Zou's hypothesis) by correlating diverse etiologies and prenatal stresses with IS development. This research aims to determine the mechanism through which prenatal stress affects the offspring and establish the potential underlying mechanisms. Pregnant rats were subjected to forced swimming in cold water. Rat pups exposed to prenatal stress were administered with N-methyl-D-aspartate (NMDA). Exposure to prenatal stress sensitized the rats against development of NMDA-induced spasms. However, this phenomenon was altered by administering adrenocorticotropin. Prenatal stress exposure also altered the hormonal levels and neurotransmitter receptor expression of the developing rats as well as influenced the tissue structure of the brain. These findings suggest that maternal stress could alter the level of endogenous glucocorticoid, which is the basis of IS, and cerebral dysplasia, hypoxic-ischemic encephalopathy (HIE), inherited metabolic diseases, and other factors activated this disease in developmental brain. Copyright © 2016 Elsevier Inc. All rights reserved.

  20. Neural mechanisms of oculomotor abnormalities in the infantile strabismus syndrome.

    Science.gov (United States)

    Walton, Mark M G; Pallus, Adam; Fleuriet, Jérome; Mustari, Michael J; Tarczy-Hornoch, Kristina

    2017-07-01

    Infantile strabismus is characterized by numerous visual and oculomotor abnormalities. Recently nonhuman primate models of infantile strabismus have been established, with characteristics that closely match those observed in human patients. This has made it possible to study the neural basis for visual and oculomotor symptoms in infantile strabismus. In this review, we consider the available evidence for neural abnormalities in structures related to oculomotor pathways ranging from visual cortex to oculomotor nuclei. These studies provide compelling evidence that a disturbance of binocular vision during a sensitive period early in life, whatever the cause, results in a cascade of abnormalities through numerous brain areas involved in visual functions and eye movements. Copyright © 2017 the American Physiological Society.

  1. LA MUERTE EN LA LÍRICA INFANTIL COLONIAL MEXICANA

    Directory of Open Access Journals (Sweden)

    Elsa Malvido

    2008-06-01

    Full Text Available En este trabajo presentaremos la importancia que la lírica infantil tuvo en la implantación de la cultura occidental en la Nueva España, rastrearemos sus orígenes, intenciones y permanencia en México, destacando uno de sus elementos más constantes: la muerte, así como el papel que desempeñó en las mentes infantiles que la cantaron y representaron. Podrán preguntarse ¿por qué la muerte? y responderemos que después de la conquista castellana de estastierras, la muerte fue constante, masiva, cotidiana y permanente, todo lo cual se reflejó en las coplas populares; por ejemplo, en el material que hemos consultado compuesto de 193 canciones infantiles, en más de la mitad de ellas se hace referencia, se le menciona, nombra o es el título delas mismas

  2. Maternal and child health indicators: implications of the tenth revision of the International Classification of Diseases Indicadores de salud materna e infantil: implicaciones de la décima revisión de la Clasificación Internacional de Enfermedades

    Directory of Open Access Journals (Sweden)

    Ruy Laurenti

    1997-07-01

    Full Text Available Since the end of the 1940s, when the World Health Organization assumed responsibility for the decennial revisions of the Classification of Causes of Death, the Classification came to include diseases and definitions of use in vital statistics, resulting in the Sixth Revision of the International Classification of Diseases (ICD-6. The most recent revision of this work, the International Statistical Classification of Diseases and Related Health Problems (ICD-10, is more significantly different than any revision since ICD-6, especially in the area of maternal and child health. Among the changes introduced in ICD-10 are the inclusion of obstetrical tetanus in the chapter on infectious diseases, which will facilitate the recording of this cause of maternal death; the incorporation of new definitions, such as late maternal death; and the redefinition of the perinatal period, which ICD-10 defines as starting at 22 completed weeks of gestation and ending 7 completed days after birth. This article seeks to highlight these changes and to discuss their consequences for the presentation and interpretation of indicators used in the evaluation of maternal and child health.A partir de finales de los años cuarenta, cuando la OMS asumió la responsabilidad de revisar cada decenio la Clasificación Internacional de Causas de Defunción, la Clasificación vino a incluir enfermedades y definiciones de utilidad para las estadísticas vitales, y ello dio por resultado la Sexta Clasificación Internacional de Enfermedades (CID-6. La revisión más reciente de esta obra, que es la Clasificación Estadística Internacional de Enfermedades y Problemas Relacionados con la Salud (CID-10, representa los cambios más importantes que se han efectuado desde la CID-6, principalmente en lo relativo al área maternoinfantil. Entre los cambios introducidos en la CID-10 figuran la inclusión del tétanos obstétrico en el capítulo sobre enfermedades infecciosas, que facilitar

  3. Transumbilical laparoscopic treatment of Congenital Infantile Fibrosarcoma of the Ileum

    Directory of Open Access Journals (Sweden)

    G. Scirè

    2014-08-01

    Full Text Available Congenital-Infantile Fibrosarcoma (CIF is a malignant mesenchymal tumor representing 10-20% of soft-tissue tumors. Complete surgical resection is generally the treatment of choice. The most recurrent cytogenetic abnormality was identified as the traslocation t(12;15(p13:q25, which bears the fusion of Tel gene EVT6 with TrkC gene. This study describes a case of infantile fibrosarcoma of the ileum in a female newborn examined for intestinal occlusion and its laparoscopic treatment.

  4. Lectura e Inteligencias Múltiples en Educación Infantil

    OpenAIRE

    Carretero-Delgado, Susana

    2013-01-01

    El fracaso escolar tiene consecuencias negativas importantes tanto a nivel individual como social. Los problemas de lectura son unas de las principales causas de este fracaso. En este trabajo de investigación se ha hecho una exploración sobre el rendimiento lector con alumnos de Educación Infantil para establecer su posible relación con las inteligencias múltiples. Se evaluaron 30 alumnos de Educación Infantil de entre 5 y 6 años con el cuestionario de inteligencias múltiples y una prueba de ...

  5. El diagnóstico positivo de autismo infantil

    OpenAIRE

    Velázquez Argota, Juana; Lozano Pérez, Teresa

    1996-01-01

    Se revisan los límites del síndrome autístico y la evolución del concepto de autismo infantil desde Kanner hasta las clasificaciones psiquiátricas más recientes. Se informan los resultados de nuestras investigaciones en el diagnóstico positivo del autismo infantil. La anamnesis remota es de poco valor, más relevantes para el diagnóstico constituyen el examen del paciente en el presente y las escalas de cuantificación del autismo (las cuales son de utilidad en el diagnóstico diferencial entre ...

  6. Realidad aumentada en Educación Infantil

    OpenAIRE

    Sánchez Rodríguez, José; Ruiz Palmero, Julio; Sánchez Vega, Elena

    2016-01-01

    Comenzamos por un resumen del marco normativo de la etapa Educación Infantil en el que se indica la necesidad de incluir las tecnologías en la misma. Posteriormente comentamos posibilidades de materiales y recursos tecnológicos para la enseñanza. Por último, detallamos algunas experiencias de uso de la realidad aumentada (RA) con alumnado del segundo ciclo de Educación Infantil. Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tech.

  7. ¿Igualdad en educación infantil?

    OpenAIRE

    Vélez Sales, Paula

    2016-01-01

    Treball final de Grau en Mestre o Mestra d'Educació Infantil. Codi: MI1040. Curs acadèmic 2015-2016 Este trabajo tiene como objeto realizar una revisión teórica sobre las desigualdades en la etapa de infantil, sus causas y consecuencias. Para ello, estudiaremos las aportaciones teóricas más relevantes sobre las desigualdades sociales, culturales, económicas y políticas que influyen en la escuela. La metodología se ha basado en las búsquedas bibliográficas relacionadas con el tema de la ...

  8. EL JUEGO SIMBÓLICO, EN EL APRENDIZAJE INFANTIL

    OpenAIRE

    Mirás-Puente, Tania

    2013-01-01

    El presente Trabajo de Fin de Grado, en la especialidad Maestro en Educación Infantil, está centrado en la presentación de una propuesta de intervención, fundamentalmente lúdica, cuyo fin es aportar un recurso a los docentes atendiendo a diferentes tipos de aprendizajes. El carácter lúdico es considerado, ya que el juego es uno de los enfoques metodológicos en la etapa infantil. Esta metodología, sostenida en una motivación de aprendizaje, promoverá un ambiente adecuado para la construcción d...

  9. Interventions for infantile haemangiomas of the skin.

    Science.gov (United States)

    Novoa, Monica; Baselga, Eulalia; Beltran, Sandra; Giraldo, Lucia; Shahbaz, Ali; Pardo-Hernandez, Hector; Arevalo-Rodriguez, Ingrid

    2018-04-18

    Infantile haemangiomas (previously known as strawberry birthmarks) are soft, raised swellings of the skin that occur in 3% to 10% of infants. These benign vascular tumours are usually uncomplicated and tend to regress spontaneously. However, when haemangiomas occur in high-risk areas, such as near the eyes, throat, or nose, impairing their function, or when complications develop, intervention may be necessary. This is an update of a Cochrane Review first published in 2011. To assess the effects of interventions for the management of infantile haemangiomas in children. We updated our searches of the following databases to February 2017: the Cochrane Skin Group Specialised Register, CENTRAL, MEDLINE, Embase, PsycINFO, AMED, LILACS, and CINAHL. We also searched five trials registries and checked the reference lists of included studies for further references to relevant trials. Randomised controlled trials (RCTs) of all types of interventions, versus placebo, active monitoring, or other interventions, in any child with single or multiple infantile haemangiomas (IHs) located on the skin. We used standard methodological procedures expected by Cochrane. The primary outcome measures were clearance, a subjective measure of improvement, and adverse events. Secondary outcomes were other measures of resolution; proportion of parents or children who consider there is still a problem; aesthetic appearance; and requirement for surgical correction. We used GRADE to assess the quality of the evidence for each outcome; this is indicated in italics. We included 28 RCTs, with a total of 1728 participants, assessing 12 different interventions, including lasers, beta blockers (e.g. propranolol, timolol maleate), radiation therapy, and steroids. Comparators included placebo, an active monitoring approach, sham radiation, and interventions given alone or in combination.Studies were conducted in a number of countries, including China, Egypt, France, and Australia. Participant age ranged

  10. Reflexo do consumismo infantil no ambiente escolar

    Directory of Open Access Journals (Sweden)

    Sônia de Fátima Camargo

    2011-12-01

    Full Text Available Este artigo propôs verificar se há reflexos do consumismo infantil no ambiente escolar. Se á fatores que influenciam nas interações afetivas e subjetivas dos alunos das séries iniciais do Ensino Fundamental na Escola Municipal Professora Ana Cristina de sena município de Sinop – MT. O objetivo do trabalho foi investigar as relações interpessoais em sala de aula e de que forma essas relações acontecem diante do consumismo. Como fundamentação teórica, recorremos aos autores, Zygmunt Bauman, Anne Barrére, Antonio Chizotti e Maria Minayo. A metodologia usada consistiu na pesquisa qualitativa, no estudo de caso e entrevistas com perguntas abertas e fechadas aplicadas a professores e pais e observação em sala dos alunos. Através dos relatos dos sujeitos realizamos um estudo analítico confrontando os dados da pesquisa com os autores principais que fundamentam a mesma. O presente trabalho pretende contribuir com a escola na sensibilização de futuros consumidores, e como trabalhar com conceitos de valores do ‘ser’ e não do ‘ter’. Os resultados da investigação revelam que a realidade na qual foi pesquisado, o reflexo do consumismo e contundentes e que o consumismo não é o único fator a influenciar nas relações e formação subjetiva dos alunos.Palavras-chave: educação; ensino fundamental; anos iniciais; consumismo; sociointeracionismo.

  11. Prevención y promoción del desarrollo infantil: una experiencia en las Escuelas Infantiles

    Directory of Open Access Journals (Sweden)

    Ángela Díaz-Herrero

    2009-01-01

    Full Text Available Este trabajo presenta un programa de prevención y promoción del desarrollo infantil dirigido a 136 niños entre 1 y 3 años de edad escolarizados en escuela infantil entre los cursos académicos 2005-2006 y 2007-2008. Se efectuaron dos valoraciones anuales del desarrollo psicomotor mediante las Escalas Bayley de Desarrollo Infantil (Bayleyayley, 1993. Tras la primera evaluación se dieron recomendaciones tanto a la familia como a los educadores para fortalecer las competencias de los niños. Los resultados indican, de modo global, progresos significativos tanto en el desarrollo mental como psicomotor de los niños que participaron en dicho programa.

  12. Dynamics of porcine circovirus type 2 infection and excretion in pigs from postweaning multisystemic wasting syndrome affected farms from Spain and Denmark

    DEFF Research Database (Denmark)

    Grau-Roma, L.; Hjulsager, Charlotte Kristiane; Sibila, M.

    Serological and non-quantitative DNA detection techniques (PCR) have been widely used to monitor porcine circovirus type 2 (PCV2) infection dynamics (1,2). In spite of available epidemiological information, very few data on PCV2 load dynamics of Postweaning multisystemic wasting syndrome (PMWS) a...

  13. Effects of Multisystemic Therapy through Midlife: A 21.9-Year Follow-Up to a Randomized Clinical Trial with Serious and Violent Juvenile Offenders

    Science.gov (United States)

    Sawyer, Aaron M.; Borduin, Charles M.

    2011-01-01

    Objective: Although current evidence suggests that the positive effects of multisystemic therapy (MST) on serious crime reach as far as young adulthood, the longer term impact of MST on criminal and noncriminal outcomes in midlife has not been evaluated. In the present study, the authors examined a broad range of criminal and civil court outcomes…

  14. Mortalidade de infantil no município do Rio de Janeiro Mortalidad Infantil en el Municipio de Rio de Janeiro Child Mortality in Rio de Janeiro City

    Directory of Open Access Journals (Sweden)

    Lígia Neres Matos

    2007-06-01

    para 15,1 en 2004, siendo el componente post neonatal el principal responsable por esta declinación. En 2004, las principales causas de fallecimientos neonatales fueran las afecciones perinatales y las malformaciones congénitas; entre los fallecimientos post neonatales destacaranse las enfermedades infecciosas y parasitarias, las causas mal definidas y las enfermedades respiratorias. Aunque se ha observado un declive de la tasa de mortalidad infantil, esta no tuvo una reducción mayor, debido al pequeño declino del componente neonatal precoz. Fue observado que la ayuda a la salud del niño, en la ciudad de Rio de Janeiro, aún deja a desear en el que se refiere a la integralidad de la ayuda desde el periodo prenatal.The child mortality rate is considered a synthesis indicator of life quality and of the development level of a population. This article analyses the evolution of these rates in the Rio de Janeiro City, in the period between 1979 and 2004, and the causes in 2004. It is a descriptive study from the total of child death and births occurred, using the information system produced by the Health Department. For the evaluation, according basic death cause, it was used the Disease International Classification. The rates of child mortality per thousand born live decreased from 37.4 in 1979 to 15.1 in 2004, being the post neonatal the main responsible for this decline. In 2004, the main causes of neonatal deaths were the perinatal affections and the congenital malformation; among deaths post neonatal was detached the infectious and parasitic diseases, the undefined causes and the respiratory diseases. Although it was observed a drop in the child mortality rate, this hasn't a mayor reduction, because a little decline of the precocious neonatal component. It was observed that the assistance to the child health, in the city of Rio de Janeiro, yet let to desire in what is about the integrality of the assistance since the prenatal period.

  15. Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites: First case in Brazil

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    Santos Cláudia Maria Carvalho dos

    1998-01-01

    Full Text Available We present the first case of an early infantile form of galactosialidosis among Brazilians. This very rare and severe lysosomal storage disease has only a dozen patients clearly diagnosed worldwide. Clinical, pathological and biochemical features were consistent with previously published findings. We detected the disorder in a 7-month-old female baby with prenatal diagnosis of ascites. Evolution of the storage disease was monitored through routine thin-layer chromatography (TLC for urinary oligosaccharides as part of a screening program for inborn errors of metabolism (IEM in high-risk children, carried out in Rio de Janeiro.

  16. Von Hippel-Lindau Disease: A Rare Familiar Multi-System Disorder and the Impact of the Clinical Nurse Specialist

    Science.gov (United States)

    1993-01-01

    hemodialysis has been reported by Fetner, Barilla , Scott, Ballard, and Peters (1976). They have proposed renal transplantation if their patient survives five...Urology, 18, 599-600. Feldstein, M., & Rait, D. (1992). Family assessment in an oncology setting. Cancer Nursing, 15(3), 161-172. Fetner, C., Barilla , D

  17. Development and Validation of a Quality-of-Life Instrument for Infantile Hemangiomas.

    Science.gov (United States)

    Chamlin, Sarah L; Mancini, Anthony J; Lai, Jin-Shei; Beaumont, Jennifer L; Cella, David; Adams, Denise; Drolet, Beth; Baselga, Eulalia; Frieden, Ilona J; Garzon, Maria; Holland, Kristin; Horii, Kimberly A; Lucky, Anne W; McCuaig, Catherine; Metry, Denise; Morel, Kimberly D; Newell, Brandon D; Nopper, Amy J; Powell, Julie; Siegel, Dawn; Haggstrom, Anita N

    2015-06-01

    Infantile hemangiomas (IH) are common tumors for which there is no validated disease-specific instrument to measure the quality of life in infants and their parents/caregivers during the critical first months of life. This study prospectively developed and validated a quality-of-life instrument for patients with IH and their parents/caregivers and correlated demographic and clinical features to the effects on the quality of life. A total of 220 parents/caregivers completed the 35-item Infantile Hemangioma Quality-of-Life (IH-QoL) instrument and provided demographic information. The dimensionality of the items was evaluated using factor analysis, with results suggesting four factors: child physical symptoms, child social interactions, parent emotional functioning, and parent psychosocial functioning. Each factor fit the Rasch measurement model with acceptable fit index (mean square instrument consists of four scales with a total of 29 items. Content validity was verified by analyzing parents' responses to an open-ended question. Test-retest reliability at a 48-hour interval was supported by a total IH-QoL intraclass correlation coefficient of 0.84. Certain clinical characteristics of hemangioma, including those located on the head and neck, in the proliferative stage, and requiring treatment, are associated with a greater impact on QoL.

  18. Maternal and infantile hypercalcemia caused by vitamin-D-hydroxylase mutations and vitamin D intake.

    Science.gov (United States)

    Dinour, Dganit; Davidovits, Miriam; Aviner, Shraga; Ganon, Liat; Michael, Leonid; Modan-Moses, Dalit; Vered, Iris; Bibi, Haim; Frishberg, Yaacov; Holtzman, Eli J

    2015-01-01

    Hypercalcemia is caused by many different conditions and may lead to severe complications. Loss-of-function mutations of CYP24A1, encoding vitamin D-24-hydroxylase, have recently been identified in idiopathic infantile hypercalcemia and in adult kidney stone disease. The aim of this study was to investigate the genetics and clinical features of both infantile and maternal hypercalcemia. We studied members of four unrelated Israeli families with hypercalcemia, namely, one woman during pregnancy and after delivery and three infants. Clinical and biochemical data were obtained from probands' medical charts. Genomic DNA was isolated from peripheral blood and CYP24A1 was sequenced. Typical symptoms of hypercalcemia associated with the intake of recommended doses of vitamin D developed in the infants and pregnant woman. Four different loss-of-function CYP24A1 mutations were identified, two of which are reported here for the first time (p.Trp134Gly and p.Glu315*). The infants from families 1 and 2, respectively, were found to be compound heterozygotes, and the infant from family 3 and the pregnant woman were found to be homozygous. This is the first report of maternal hypercalcemia caused by a CYP24A1 mutation, showing that not only infants are at risk for this complication. Our findings emphasize the importance of recognition, genetic diagnosis and proper treatment of this recently identified hypercalcemic disorder in this era of widespread vitamin D supplements.

  19. Leucodistrofia metacromática infantil em gêmeos

    OpenAIRE

    Wittig,Ehrenfried Othmar; Marçallo,Francisco Antonio; Pilotto,Rui Fernando; Mello,Luiz Renato

    1985-01-01

    Os autores descrevem um par de gêmeas monozigóticas, filhas de pais consanguíneos em segundo grau (f=1/32), com leucodistrofia metacromática, forma infantil. A zigosidade foi determinada pelos achados obstétricos e por marcadores genéticos eritrocitários.

  20. Leucodistrofia metacromática infantil em gêmeos

    Directory of Open Access Journals (Sweden)

    Ehrenfried Othmar Wittig

    1985-09-01

    Full Text Available Os autores descrevem um par de gêmeas monozigóticas, filhas de pais consanguíneos em segundo grau (f=1/32, com leucodistrofia metacromática, forma infantil. A zigosidade foi determinada pelos achados obstétricos e por marcadores genéticos eritrocitários.

  1. Infantile malignant osteopetrosis: A case report of three siblings

    Directory of Open Access Journals (Sweden)

    Sahil Jain

    2013-01-01

    Full Text Available Infantile malignant osteopetrosis, a rare hereditary, generalized disorder of bone characterized by a significant increase in the density of the skeletal tissues is described in three siblings. The incidence, genetic etiology, clinical, laboratory, radiological features, management and prognosis have been discussed.

  2. Injury Patterns among Individuals Diagnosed with Infantile Autism during Childhood

    DEFF Research Database (Denmark)

    Mouridsen, Svend-Erik; Rich, Bente; Isager, Torben

    2016-01-01

    Background: To date, injury risk among people with infantile autism (IA) has been a relatively poorly researched issue.Objective:The purpose of our study was to compare the prevalence and types of injuries in a clinical sample of 118 patients diagnosed with IA during childhood with those of 336 age...

  3. Clinical findings versus imaging studies in the diagnosis of infantile ...

    African Journals Online (AJOL)

    Background: Infantile hypertrophic pyloric stenosis is the most common surgical cause of vomiting in early infancy and can be diagnosed clinically or by imaging studies. Objectives: The aim of this study was to assess the accuracy of clinical examination compared with ultrasound and upper gastrointestinal contrast imaging ...

  4. Infantile Short Bowel Syndrome: short and long term evaluation

    NARCIS (Netherlands)

    J.F. Olieman (Joanne)

    2009-01-01

    textabstractInfantile short bowel syndrome is a condition which is characterized by malabsorption of nutrients, as a result of congenital intestinal shortening or massive small bowel resection. Survival rates have improved over the years, but morbidity remains high and clinical management of these

  5. Hacia una educación infantil de calidad

    Directory of Open Access Journals (Sweden)

    Ana Lupita Chaves Salas

    2004-01-01

    Full Text Available El artículo analiza las funciones que cumple la educación infantil dentro de la sociedad y da a conocer algunos criterios de calidad para valorar los programas dirigidos a la educación del niño y la niña menor de seis años

  6. El timerosal y las enfermedades del neurodesarrollo infantil

    Directory of Open Access Journals (Sweden)

    Luis Maya

    2006-09-01

    Full Text Available Se evalúa la relación causal entre el timerosal (etilmercurio, como preservante en las vacunas pediátricas, y el incremento de casos de enfermedades del neurodesarrollo infantil, como consecuencia de la ampliación de los esquemas de inmunización. Se revisó la información científica, relacionando el timerosal y las evidencias que permitan evaluar una posible asociación causal, con estudios epidemiológicos, ecológicos, biomoleculares y toxicológicos, de bioseguridad, toxicológicos fetales y sobre salud reproductiva. Se encontró múltiples asociaciones entre la exposición a timerosal y las enfermedades del neurodesarrollo infantil. Tal neurotoxicidad ocurre en los infantes y fetos de gestantes vacunadas por dosis acumulativa de mercurio. Las diversas evidencias implican al timerosal como el agente causante, agravante o disparador de las enfermedades del neurodesarrollo infantil. La toxicidad del mercurio obligó al retiro progresivo del timerosal de los medicamentos. Lamentablemente, en las vacunas, ha habido una sustancial demora en la demostración de su impacto negativo. Actualmente, existen vacunas sin timerosal, cuyo uso está ocasionando la disminución de la incidencia de las enfermedades del neurodesarrollo infantil.

  7. "Stuck in the muck": an eco-idiom of distress from childhood respiratory diseases in an urban mangrove in Northeast Brazil "Atrapado en el fango": ecoidioma del sufrimiento con enfermedades respiratorias infantiles en un manglar urbano del Nordeste de Brasil "Atolado na lama": ecoidioma de sofrimento com doenças respiratórias infantis em um manguezal urbano do Nordeste do Brasil

    Directory of Open Access Journals (Sweden)

    Marilyn Nations

    2013-02-01

    Full Text Available Situated in neo-democratic globalizing Northeast Brazil, this anthropological study probes the role of ecological context in framing, experiencing, and expressing human distress. Ethnographic interviews, narratives, and "contextualized semantic analysis" reveal the lived experience of childhood respiratory diseases among 22 urban mangrove dwellers. Informants speak an "eco-idiom of respiratory distress" based on a popular "eco-logic", reflecting the harsh reality of "living in dampness". "Higher-up" residents legitimize their feelings of superiority by stigmatizing "lowlanders" as taboo, diseased (with porcine cysticercosis, swine flu "filthy pigs, stuck in the muck" (atolados na lama. Animalizing inhabitants' identities demotes them to nonpersons. Besides infections, children suffer social stigma, ostracism, and barriers for accessing care. Promoting a "favorable environment" requires reducing ecological risk, challenging class-based prejudice, and restoring human dignity.Situado en el neo-democrático globalizado Nordeste brasileño, este estudio antropológico analiza el papel del contexto ecológico en el encuadramiento para experimentar y expresar la miseria humana. Entrevistas etnográficas, narrativas y un "análisis semántico contextualizado" revelan la experiencia vivida a causa de enfermedades respiratorias infantiles en 22 residentes de manglares urbanos. Los informantes hablan en un "eco-lenguaje de incomodidad respiratoria", basado en una "eco-lógica" popular, reflejando la dura realidad de "vivir en la humedad, en el manglar." Residentes de áreas elevadas legitiman sus sentimientos de superioridad, estigmatizando los residentes en la "Baixada" como un tabú, como enfermos (cisticercosis porcina, gripe porcina, etc., como "cerdos inmundos, atrapados en el fango". Animalizando las identidades de sus habitantes, despreciándolos a la categoría de no-personas. Además de infecciones, los niños sufren barreras sociales derivadas

  8. The value of cardiac catheterization and cineangiography in infantile lobar emphysema

    International Nuclear Information System (INIS)

    Roguin, N.; Peleg, H.; Naveh, Y.; Riss, E.; Technion-Israel Inst. of Tech., Haifa. Cardiothoraic Surgery; Technion-Israel Inst. of Tech., Haifa. Dept. of Pediatrics)

    1980-01-01

    Lobar emphysema is an uncommon cause of respiratory distress in infancy. Congenital heart disease is seen in about 20% of the patients with infantile (congenital) lobar emphysema. We described six infants with lobar emphysema. In three of them a congenital heart disease was demonstrated by cardiac catheterization and cineangiography; two had a tetralogy of Fallot with right aortic arch and the third infant a ventricular septal defect. The pulmonary angiography showed stretching of the arteries with very poor filling of the peripheral arteries and a characteristic smaller pulmonary vein in the affected lobe. In all the six patients the pulmonary artery pressure was normal. All the patients underwent lobectomy with good results. We feel that a preoperative cardiac catheterization and cineangiography is of value in this very sick group of infants. (orig.) [de

  9. Von Hippel–Lindau disease

    Directory of Open Access Journals (Sweden)

    Juhara Haron

    2017-04-01

    Full Text Available Von Hippel–Lindau (VHL disease is a rare autosomal dominantly inherited multisystem disorder characterised by the development of a variety of benign and malignant tumours. We report a case of VHL disease that was inherited by a daughter from her father, who both presented at a young age with progressive headache and were found to have a posterior fossa haemangioblastoma (HB on magnetic resonance imaging (MRI. Multiple benign pancreatic and renal cysts were also noted in both patients.

  10. Thoracic complications of rheumatoid disease

    International Nuclear Information System (INIS)

    Massey, H.; Darby, M.; Edey, A.

    2013-01-01

    Rheumatoid arthritis is a relatively common multisystem disease associated with significant mortality and morbidity. Thoracic disease, both pleural and pulmonary, is a frequent extra-articular manifestation of rheumatoid arthritis and responsible for approximately 20% of rheumatoid-associated mortality. Rheumatoid disease and its associated therapies can affect all compartments of the lung inciting a range of stereotyped pathological responses and it is not infrequent for multiple disease entities to co-exist. In some instances, development of pulmonary complications may precede typical rheumatological presentation of the disease and be the first indication of an underlying connective tissue disease. The spectrum of thoracic disease related to rheumatoid arthritis is reviewed

  11. Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

    Directory of Open Access Journals (Sweden)

    Liliana Catherine Patiño

    Full Text Available The neuronal ceroid-lipofuscinoses (NCL is a group of neurodegenerative disorders characterized by epilepsy, visual failure, progressive mental and motor deterioration, myoclonus, dementia and reduced life expectancy. Classically, NCL-affected individuals have been classified into six categories, which have been mainly defined regarding the clinical onset of symptoms. However, some patients cannot be easily included in a specific group because of significant variation in the age of onset and disease progression. Molecular genetics has emerged in recent years as a useful tool for enhancing NCL subtype classification. Fourteen NCL genetic forms (CLN1 to CLN14 have been described to date. The variant late-infantile form of the disease has been linked to CLN5, CLN6, CLN7 (MFSD8 and CLN8 mutations. Despite advances in the diagnosis of neurodegenerative disorders mutations in these genes may cause similar phenotypes, which rends difficult accurate candidate gene selection for direct sequencing. Three siblings who were affected by variant late-infantile NCL are reported in the present study. We used whole-exome sequencing, direct sequencing and in silico approaches to identify the molecular basis of the disease. We identified the novel c.1219T>C (p.Trp407Arg and c.1361T>C (p.Met454Thr MFSD8 pathogenic mutations. Our results highlighted next generation sequencing as a novel and powerful methodological approach for the rapid determination of the molecular diagnosis of NCL. They also provide information regarding the phenotypic and molecular spectrum of CLN7 disease.

  12. Estrategias para reducir la mortalidad infantil, Cuba 1959-1999

    Directory of Open Access Journals (Sweden)

    Raúl L. Riverón Corteguera

    2000-09-01

    Full Text Available Se describen las estrategias utilizadas por el Ministerio de Salud Pública en las diferentes etapas del Programa de Atención Maternoinfantil, para reducir la mortalidad infantil en Cuba de 1959 a 1999. Este período se dividió para su comprensión en 4 decenios. Se hace referencia a las diferentes medidas utilizadas, desde la creación del Sistema Nacional de Salud, la formación de recursos humanos; el desarrollo de la Educación Médica, la edificación de Facultades de Ciencias Médicas y la capacitación del posgraduado, el incremento de hospitales y el aumento de las camas hasta los programas de inmunización, de lucha contra la gastroenteritis y para disminuir el bajo peso al nacer, el uso racional de los antimicrobianos; la presencia de la madre acompañante; la implantación del uso de las sales de rehidratación oral (SRO para prevenir y tratar la deshidratación por enfermedades diarreicas; el desarrollo de la Atención Primaria de Salud; los programas de tecnología avanzada para la detección de anomalías congénitas; la promoción de la lactancia materna exclusiva (LME; la categorización, por UNICEF, de los hospitales "Amigos de la Madres y el Niño", el desarrollo de investigaciones que sirvieron de base al Programa de Atención Maternoinfantil; la edificación de hospitales; la construcción de las unidades de terapia intensiva con equipamiento moderno tanto en pediatría como en neonatología y otros muchos elementos puestos en prácticas durante estos 40 años. Esto ha contribuido a que la mortalidad infantil, a pesar de haberse incrementado en el primer decenio (1959-1969 en el 25,5 %, a partir del 2do. decenio (1970-1979 iniciara un descenso mantenido en el 50 %; en el 3er. decenio (1980-1989 del 43,4 % y en el 4to. decenio (1990-1999 del 40,2 %. Se concluye exponiendo las principales estrategias que contribuyeron a reducir la mortalidad infantil en los últimos años de este siglo.The strategies used by the Ministry of

  13. The Dapsone Hypersensitivity Syndrome revisited: a potentially fatal multisystem disorder with prominent hepatopulmonary manifestations

    Directory of Open Access Journals (Sweden)

    Chi David S

    2006-06-01

    Full Text Available Abstract 4,4'-Diaminodiphenylsulphone (Dapsone is widely used for a variety of infectious, immune and hypersensitivity disorders, with indications ranging from Hansen's disease, inflammatory disease and insect bites, all of which may be seen as manifestations in certain occupational diseases. However, the use of dapsone may be associated with a plethora of adverse effects, some of which may involve the pulmonary parenchyma. Methemoglobinemia with resultant cyanosis, bone marrow aplasia and/or hemolytic anemia, peripheral neuropathy and the potentially fatal dapsone hypersensitivity syndrome (DHS, the focus of this review, may all occur individually or in combination. DHS typically presents with a triad of fever, skin eruption, and internal organ (lung, liver, neurological and other systems involvement, occurring several weeks to as late as 6 months after the initial administration of the drug. In this sense, it may resemble a DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms. DHS must be promptly identified, as untreated, the disorder could be fatal. Moreover, the pulmonary/systemic manifestations may be mistaken for other disorders. Eosinophilic infiltrates, pneumonitis, pleural effusions and interstitial lung disease may be seen. This syndrome is best approached with the immediate discontinuation of the offending drug and prompt administration of oral or intravenous glucocorticoids. An immunological-inflammatory basis of the syndrome can be envisaged, based on the pathological picture and excellent response to antiinflammatory therapy. Since dapsone is used for various indications, physicians from all specialties may encounter DHS and need to familiarize themselves with the salient features about the syndrome and its management.

  14. The emerging mysteries of IgG4-related disease

    NARCIS (Netherlands)

    Smit, Wouter; Barnes, Eleanor

    2014-01-01

    IgG4-related disease (IgG4-RD) is increasingly recognised in Western societies as a multi-system, inflammatory, fibrosing disease of unknown aetiology that typically, though not exclusively, presents in older men. The clinical manifestations are diverse and almost any organ may be affected. The

  15. Morbilidad infantil por causas respiratorias y su relación con la contaminación atmosférica en Ciudad Juárez, Chihuahua, México Infant morbidity caused by respiratory diseases and its relation with the air pollution in Juarez City, Chihuahua, Mexico

    Directory of Open Access Journals (Sweden)

    Leticia Hernández-Cadena

    2007-02-01

    Full Text Available OBJETIVO: Evaluar el impacto de los contaminantes atmosféricos sobre la salud respiratoria de la población infantil de Ciudad Juárez, Chihuahua, México, considerando diferentes grupos etáreos. MATERIAL Y MÉTODOS: Se obtuvieron datos sobre consultas a urgencias de hospitales por afecciones de vías respiratorias altas, bajas y asma, en unidades del IMSS, de niños menores de 17 años de edad entre 1997 y 2001, y se estratificó por grupos etáreos (5 años. Se obtuvieron datos diarios sobre contaminantes aéreos (Ozono y PM10 y condiciones meteorológicas de la Red de Monitoreo en Ciudad Juárez. Para el análisis estadístico de los datos, se utilizó un Modelo Aditivo Generalizado, asumiendo una distribución de Poisson. RESULTADOS: Las concentraciones de ozono, pero no de PM10, se asociaron significativamente con las consultas a urgencias por afecciones respiratorias, principalmente en niños de 5 años o menores. En este grupo, un incremento de 20 ppb en 1 hr máxima de ozono se asociaron con un incremento de 8.3% en las consultas por afecciones de vías respiratorias superiores, con un retraso en la exposición de tres días, y un incremento de 12.7% en las consultas por infecciones de las vías respiratorias inferiores cuando se consideró un retraso de cuatro días en la exposición en el promedio móvil máximo de ocho horas. El efecto mayor para la muestra total, al igual que para el grupo de niños de 6 a 16 años, se observó en el retraso de tres días (5.1% para un aumento de 20 ppb en un máximo de una hora. Para este grupo no se observó un efecto significativo entre los niveles ambientales de ozono y el riesgo de contraer enfermedades de las vías respiratorias inferiores. CONCLUSIÓN: La amplitud del riesgo es de suma importancia, ya que puede representar un incremento en los costos de atención en el sistema de salud y la sociedad en general. Nuestros resultados destacan la necesidad de instrumentar acciones preventivas y

  16. Cohesin and Human Disease

    Science.gov (United States)

    Liu, Jinglan; Krantz, Ian D.

    2016-01-01

    Cornelia de Lange syndrome (CdLS) is a dominant multisystem disorder caused by a disruption of cohesin function. The cohesin ring complex is composed of four protein subunits and more than 25 additional proteins involved in its regulation. The discovery that this complex also has a fundamental role in long-range regulation of transcription in Drosophila has shed light on the mechanism likely responsible for its role in development. In addition to the three cohesin proteins involved in CdLS, a second multisystem, recessively inherited, developmental disorder, Roberts-SC phocomelia, is caused by mutations in another regulator of the cohesin complex, ESCO2. Here we review the phenotypes of these disorders, collectively termed cohesinopathies, as well as the mechanism by which cohesin disruption likely causes these diseases. PMID:18767966

  17. Minireview: Clinical severity in sickle cell disease: the challenges of definition and prognostication.

    Science.gov (United States)

    Quinn, Charles T

    2016-04-01

    Sickle cell disease (SCD) is a monogenic, yet highly phenotypically variable disease with multisystem pathology. This manuscript provides an overview of many of the known determinants, modifiers, and correlates of disease severity in SCD. Despite this wealth of data, modeling the variable and multisystem pathology of SCD continues to be difficult. The current status of prediction of specific adverse outcomes and global disease severity in SCD is also reviewed, highlighting recent successes and ongoing challenges. © 2016 by the Society for Experimental Biology and Medicine.

  18. PGC-1alpha Deficiency Causes Multi-System Energy Metabolic Derangements: Muscle Dysfunction, Abnormal Weight Control and Hepatic Steatosis

    Directory of Open Access Journals (Sweden)

    Leone Teresa C

    2005-01-01

    Full Text Available The gene encoding the transcriptional coactivator peroxisome proliferator-activated receptor-gamma coactivator-1alpha (PGC-1alpha was targeted in mice. PGC-1alpha null (PGC-1alpha-/- mice were viable. However, extensive phenotyping revealed multi-system abnormalities indicative of an abnormal energy metabolic phenotype. The postnatal growth of heart and slow-twitch skeletal muscle, organs with high mitochondrial energy demands, is blunted in PGC-1alpha-/- mice. With age, the PGC-1alpha-/- mice develop abnormally increased body fat, a phenotype that is more severe in females. Mitochondrial number and respiratory capacity is diminished in slow-twitch skeletal muscle of PGC-1alpha-/- mice, leading to reduced muscle performance and exercise capacity. PGC-1alpha-/- mice exhibit a modest diminution in cardiac function related largely to abnormal control of heart rate. The PGC-1alpha-/- mice were unable to maintain core body temperature following exposure to cold, consistent with an altered thermogenic response. Following short-term starvation, PGC-1alpha-/- mice develop hepatic steatosis due to a combination of reduced mitochondrial respiratory capacity and an increased expression of lipogenic genes. Surprisingly, PGC-1alpha-/- mice were less susceptible to diet-induced insulin resistance than wild-type controls. Lastly, vacuolar lesions were detected in the central nervous system of PGC-1alpha-/- mice. These results demonstrate that PGC-1alpha is necessary for appropriate adaptation to the metabolic and physiologic stressors of postnatal life.

  19. PGC-1alpha deficiency causes multi-system energy metabolic derangements: muscle dysfunction, abnormal weight control and hepatic steatosis.

    Directory of Open Access Journals (Sweden)

    Teresa C Leone

    2005-04-01

    Full Text Available The gene encoding the transcriptional coactivator peroxisome proliferator-activated receptor-gamma coactivator-1alpha (PGC-1alpha was targeted in mice. PGC-1alpha null (PGC-1alpha(-/- mice were viable. However, extensive phenotyping revealed multi-system abnormalities indicative of an abnormal energy metabolic phenotype. The postnatal growth of heart and slow-twitch skeletal muscle, organs with high mitochondrial energy demands, is blunted in PGC-1alpha(-/- mice. With age, the PGC-1alpha(-/- mice develop abnormally increased body fat, a phenotype that is more severe in females. Mitochondrial number and respiratory capacity is diminished in slow-twitch skeletal muscle of PGC-1alpha(-/- mice, leading to reduced muscle performance and exercise capacity. PGC-1alpha(-/- mice exhibit a modest diminution in cardiac function related largely to abnormal control of heart rate. The PGC-1alpha(-/- mice were unable to maintain core body temperature following exposure to cold, consistent with an altered thermogenic response. Following short-term starvation, PGC-1alpha(-/- mice develop hepatic steatosis due to a combination of reduced mitochondrial respiratory capacity and an increased expression of lipogenic genes. Surprisingly, PGC-1alpha(-/- mice were less susceptible to diet-induced insulin resistance than wild-type controls. Lastly, vacuolar lesions were detected in the central nervous system of PGC-1alpha(-/- mice. These results demonstrate that PGC-1alpha is necessary for appropriate adaptation to the metabolic and physiologic stressors of postnatal life.

  20. Idiopathic infantile arterial calcification: a rare cause of sudden unexpected death in childhood.

    Science.gov (United States)

    Guimarães, Susana; Lopes, José Manuel; Oliveira, José Bessa; Santos, Agostinho

    2010-07-27

    Unexpected child death investigation is a difficult area of forensic practice in view of the wide range of possible genetic, congenital, and acquired natural and nonnatural causes. Idiopathic infantile arterial calcification (IIAC) is a rare autosomic recessive disease usually diagnosed postmortem. Inactivating mutations of the ENPP1 gene were described in 80% of the cases with IIAC. We report a case of a 5-year-old girl submitted to a forensic autopsy due to sudden death and possible medical negligence/parents child abuse. Major alterations found (intimal proliferation and deposition of calcium hydroxyapatite around the internal elastic lamina and media of arteries; acute myocardial infarct, stenotic and calcified coronary artery; perivascular and interstitial myocardial fibrosis; and subendocardial fibroelastosis) were diagnostic of IIAC. We reviewed IIAC cases published in the English literature and highlight the importance of adequate autopsy evaluation in cases of sudden child death.

  1. A five-week-old girl with inspiratory stridor due to infantile hemangiopericytoma

    DEFF Research Database (Denmark)

    Hansen, Jonas K; Sørensen, Flemming Brandt; Christensen, Mogens Fjord

    2006-01-01

    UNLABELLED: A 5-week-old girl with inspiratory stridor is presented. No immediate cause of the stridor was found, but eventually a diagnosis of infantile hemangiopericytoma located in the rhinopharynx was made. After surgery all respiratory symptoms disappeared.CONCLUSION: Infantile hemangioperic......UNLABELLED: A 5-week-old girl with inspiratory stridor is presented. No immediate cause of the stridor was found, but eventually a diagnosis of infantile hemangiopericytoma located in the rhinopharynx was made. After surgery all respiratory symptoms disappeared.CONCLUSION: Infantile...

  2. Simultaneous transcatheter closure of intralobar pulmonary sequestration and patent ductus arteriosus in a patient with infantile Scimitar syndrome.

    Science.gov (United States)

    Aslan, Eyüp; Tanıdır, İbrahim Cansaran; Saygı, Murat; Onan, Sertaç Hanedan; Güzeltaş, Alper

    2015-03-01

    Scimitar syndrome is a rare disease associated with a right lung sequestration vascularised by arteries arising from the abdominal aorta and abnormal venous drainage into the inferior vena cava. The infantile form is generally presented with severe heart failure, pulmonary hypertension and respiratory distress. It may be associated with various intracardiac defects, including atrial septal defects, ventricular septal defects, patent ductus arteriosus or more complicated structural congenital heart defects. Here, we present a 2-month-old girl with Scimitar syndrome whose pulmonary arterial pressure decreased after transcatheter patent ductus arteriosus closure and embolization of the anomalous systemic arterial supply.

  3. Congenital (infantile) pseudarthrosis of the fibula associated with osteofibrous dysplasia

    International Nuclear Information System (INIS)

    Hisaoka, Masanori; Hashimoto, Hiroshi; Ohguri, Takayuki; Aoki, Takatoshi; Okamoto, Sumika; Ishida, Tsuyoshi; Tanaka, Hidetoshi; Okimoto, Nobukazu; Nakamura, Toshitaka

    2004-01-01

    We describe a recently noted association of congenital (infantile) pseudarthrosis of the lower leg with osteofibrous dysplasia. The patient was a 2-year-old boy who presented with a deformed left ankle joint and three cutaneous cafe-au-lait spots. Radiography demonstrated pseudarthrosis of the left distal fibula and a round lucent lesion adjacent to the proximal part of the pseudarthrosis. Histologically, the surgically removed fibula with pseudarthrosis showed a fibromatosis-like fibrovascular proliferation and nonspecific reparative changes. The focal lucent area demonstrated a fibro-osseous lesion, which was histologically identical to osteofibrous dysplasia. This case provides further evidence that osteofibrous dysplasia may be associated with congenital (infantile) pseudarthrosis of the lower leg. (orig.)

  4. Estilos de apego padres-hijo y obesidad infantil

    Directory of Open Access Journals (Sweden)

    Corina Alba-Alba

    2014-12-01

    Full Text Available El apego es una conducta de búsqueda de cercanía con el otro significativo para obtener seguridad, confianza y afecto la cual se lleva a cabo a través de distintas estrategias que determinan un estilo de apego. El estilo de apego puede clasificarse en dos grandes categorías: seguro e inseguro. La incidencia de obesidad infantil continúa en aumento en México, siendo uno de los países más afectados por lo que es prioritario explorar nuevos aportes de conocimiento respecto al tema. El presente artículo ofrece información teórica y empírica como referente para plantear la pertinencia de estudiar la relación entre estilos de apego padres-hijo y obesidad infantil.

  5. First trimester nicotine exposure and the risk of infantile colic

    DEFF Research Database (Denmark)

    Milidou, Ioanna; Henriksen, Tine Brink; Jensen, Morten Søndergaard

    Background: Although prenatal exposure to maternal smoking has been associated with infantile colic (IC), to date no published studies have reported on the relationship between the prenatal use of nicotine replacement therapy (NRT) and IC. Aim: We aimed to assess the relationship between fetal...... exposure to nicotine, coming from both cigarette smoking and use of NRT early in pregnancy, and IC. Methods: The study population consisted of 63,883 pregnancies that resulted in live born singletons enrolled in the Danish National Birth Cohort between 1997 and 2002. Mother’s smoking habits and use of NRT......: The results indicate that prenatal exposure to nicotine from any source during the first trimester of the pregnancy increases the risk of infantile colic....

  6. ATENCIÓN INFANTIL TEMPRANA EN ESPAÑA

    Directory of Open Access Journals (Sweden)

    María Auxiliadora Robles-Bello

    2013-05-01

    Full Text Available Este artículo pretende destacar un ámbito de trabajo de la Psicología Clínica que se ha convertido en una disciplina propia de actuación en la población infantil, para ello se trata de esclarecer el concepto actual de atención temprana y su estructuración territorial vigente en nuestro país. Comenzamos por una definición general de la atención infantil temprana, se continúa especificando los inicios de la atención temprana en España y sus pioneros para finalizar planteando como se estructura este servicio en las diversas Comunidades Autónomas, y en particular en la Comunidad Autónoma de Andalucía.

  7. Selvadministreret ventrikelsondeernaering hos et barn med infantil autisme

    DEFF Research Database (Denmark)

    Dyrborg, J

    1991-01-01

    An example of self-administered gastric tube nutrition in a boy aged 15 years with infantile autism is presented. The boy would neither eat nor drink in the normal manner since the age of eight years and has gradually administered tube-feeding himself. This patient does not fulfill the internatio......An example of self-administered gastric tube nutrition in a boy aged 15 years with infantile autism is presented. The boy would neither eat nor drink in the normal manner since the age of eight years and has gradually administered tube-feeding himself. This patient does not fulfill...... the international criteria for the diagnosis of anorexia nervosa. A possible etiological factor and the education/psychological attitudes to the compulsive symptom are discussed. Udgivelsesdato: 1991-Oct-14...

  8. Significaciones del abuso sexual infantil intrafamiliar en contexto mapuche rural

    Directory of Open Access Journals (Sweden)

    Lilian Sanhueza Díaz

    2010-07-01

    Full Text Available presente trabajo muestra los resultados de un estudio de caso realizado en la Región de La Araucanía, con actores sociales relevantes para el mundo mapuche y familias afectadas por situaciones de abuso sexual. Se plantean los principales hallazgos, en torno a las visiones que estos actores sociales tienen respecto del abuso sexual infantil intrafamiliar, en el complejo contexto de relaciones interétnicas característicode esta región. Destaca la pérdida de mecanismos de protección propios de la cultura, el potencial rol de las autoridades tradicionales, la vulnerabilidad de la fi gura materna, las condiciones sociofamiliares que constituirían factores de riesgo ante situaciones de abuso sexual infantil y la valorización del rol de facilitador intercultural y de la lengua materna como dispositivo terapéutico.

  9. Miastenia gravis infantil: relato de caso diagnosticado clinicamente

    Directory of Open Access Journals (Sweden)

    J. Rodrigo Lopes

    1985-09-01

    Full Text Available Registro de caso de miastenia infantil (forma congênita, em criança com 16 meses de idade. Ênfase ao diagnóstico diferencial das várias formas de miastenia na infância é dada durante a discussão do caso. O diagnóstico baseou-se na resposta imediata a teste com Neostigmina, seguido de terapêutica satisfatória com Mestinon.

  10. Timing of surgery for infantile esotropia: sensory and motor outcomes

    OpenAIRE

    Wong, Agnes M.F.

    2008-01-01

    Infantile esotropia is a common ophthalmic disorder in childhood. It is often accompanied by profound maldevelopment of stereopsis, motion processing, and eye movements, despite successful surgical realignment of the eyes. The proper timing of surgery has been debated for decades. There is growing evidence from clinical and animal studies that surgery during the early critical periods enhances sensory and ocular motor development. The Congenital Esotropia Observational Study has defined a cli...

  11. Prevalence and risk factors for infantile colic in District Mansehra

    International Nuclear Information System (INIS)

    Fazil, M.

    2011-01-01

    Objective: Infantile colic is a common problem among infants age 3 days to 3 months. It may affect parental feelings negatively and the parents may undertake all kinds of actions to stop excessive crying. The objective of this study was to assess the incidence of infantile colic and its risk factors in infants born in District Mansehra. Methods: In this prospective study, all those newborn babies were included who were born at King Abdullah Teaching Hospital Mansehra between January 1 2008 and March 31, 2008, and those newborn babies who were brought to children OPD for routine check-up and EPI centre for vaccination of this hospital during this time period. For every infant, gender, mode of delivery, gestational age at birth, birth weight, birth order, and mother's reproductive history were collected. These babies were seen at least once in a week up to 12 weeks and history from the mothers about the duration of crying and fussiness behaviour was recorded. At the end of 3 months the infants were again assessed and additional information on infant nutritional source was obtained and any medication used for colic relief was identified. Cases of colic were identified by applying Wessel criteria to recorded data. Chi-square tests were used. Results: From total 512 infants, follow-up was completed for 426 infants. In total, 90 infants (21.77%) satisfied the Wessel criteria for infantile colic. No statistical significance was found between colicky and non-colicky infants according to sex, gestational age at birth, birth weight, type of delivery, and, infant's feeding pattern. However, firstborn infants had higher rate for developing colic (p=0.03). Conclusion: Prevalence of colic was 21.77% in this infant population of District Mansehra. Except for birth order, no other variable was significantly associated with infantile colic. (author)

  12. Asthme Infantile: Les facteurs de risque modifiables | Monebenimp ...

    African Journals Online (AJOL)

    Cette étude transversale avait pour objectif de déterminer les facteurs de risque modifiables de l'asthme infantile. En d'autres termes, il s'agit des facteurs pour lesquels l'on pourrait ... La période de recrutement s'étendait du 1er Août au 31 Décembre 1999. L'enfant devrait avoir une difficulté respiratoire avec sifflement ...

  13. Infantile parkinsonism-dystonia: a dopamine “transportopathy”

    OpenAIRE

    Blackstone, Craig

    2009-01-01

    The dopamine transporter (DAT) retrieves the neurotransmitter dopamine from the synaptic cleft at dopaminergic synapses. Variations in solute carrier family 6A, member 3 (SLC6A3/DAT1), the human gene encoding DAT, have been implicated in attention deficit hyperactivity and bipolar disorders, and DAT is a prominent site of action for drugs such as amphetamines and cocaine. In this issue of the JCI, Kurian et al. report that an autosomal recessive infantile parkinsonism-dystonia is caused by lo...

  14. Low Vision Management For Infantile Nystagmus: A Case Study

    OpenAIRE

    Alexandra Troy, OD; Sara Appel, OD

    2015-01-01

    Background: Infantile nystagmus is a common cause of visual impairment. It can occur in isolation, but it is often found in association with other conditions, such as albinism. The condition results in varying levels of vision impairments ranging from mild to severe. Characteristics include early onset, bilateral involvement, pendular and jerk waveforms, the presence of a null point, and the lack of optokinetic nystagmus and oscillopsia (environment moving). This article provides a review of...

  15. Neonatal and infantile erythroderma: ′The red baby′

    OpenAIRE

    Sarkar Rashmi

    2006-01-01

    Neonatal and infantile erythroderma or "the red baby" is a rare condition. It can be potentially life-threatening and requires urgent attention of the dermatologists. The causes of erythroderma in this age group are different from that in adults and distinctive, but maybe difficult to establish due to poor specificity of clinical and laboratory findings. Careful monitoring and management of the patient may improve the final outcome. In this review, the various causes of "the red baby" is disc...

  16. Infantile myofibromatosis: a most unusual cause of gastric outlet obstruction

    Energy Technology Data Exchange (ETDEWEB)

    Rohrer, Kellie; Murphy, Robyn; Thresher, Caroline; Jacir, Nabil; Bergman, Kerry [Morristown Memorial Hospital, Department of Radiology, Morristown, NJ (United States)

    2005-08-01

    Non-bilious vomiting in the newborn is common. Etiologies include both surgical and medical conditions. Gastroesophageal reflux, soy or milk protein allergy, and prostaglandin-induced foveolar hyperplasia are among the medical causes. Surgical entities include gastric antral webs, pre-ampullary duodenal and pyloric atresia, and hypertrophic pyloric stenosis. We report the unique case of an 8-day-old girl who presented with gastric outlet obstruction secondary to infantile myofibromatosis. (orig.)

  17. Concepcion del Maltrato Infantil y los Patrones de Crianza

    OpenAIRE

    Ruth E Caicedo-Fonseca

    2007-01-01

    Existen situaciones y comportamientos de la persona, familia y colectivos, que por diferentes circunstancias pueden propiciar la Violencia Intrafamiliar conllevando al Maltrato Infantil. El que se presenten estos factores predispone a la aparicion del maltrato, pero esto no significa que necesariamente el resultado de tales comportamientos desemboque en violencia contra los miembros del nucleo familiar, pero si es seguro que esas personas son mas vulnerables al problema. Cuando la persona tra...

  18. Mortalidad infantil: Análisis de un decenio

    Directory of Open Access Journals (Sweden)

    Rogelio León López

    1998-12-01

    Full Text Available Se efectúo un estudio descriptivo y retrospectivo con la finalidad de conocer el comportamiento de la mortalidad infantil en el policlínico docente "30 de Noviembre" durante el decenio 1985-1994. El universo de estudio estuvo conformado por los 29 fallecidos menores de un año ocurridos en el período referido en dicha área de salud. Se calculó la tasa de mortalidad infantil en sus diferentes componentes en cada año motivo de estudio. Se encontró que la tasa de mortalidad infantil en nuestra área tiene un comportamiento cíclico, que la mortalidad neonatal precoz fue la que más fallecidos aportó y que las principales causas de muerte fueron la sepsis, el bajo peso al nacer y la hipoxia. Se enfatiza en la importancia de establecer un Plan de Medidas encaminado a disminuir la mortalidad infantil del áreaA descriptive and retrospective study was conducted aimed at knowing the behavior of infant mortality rate at the "30 de Noviembre" Teaching Polyclinic from 1985 to 1994. The 29 infants under one year who died in that health area during that period were studied. Infant mortality rate in its different components was calculated by every year under study. It was found that infant mortality rates in our area had a cyclical behavior, that early neonatal mortality had the highest number of deaths, and that the main cause of death were sepsis, low birth weight and hypoxia. Emphasis is made on the need of implementing a plan of measures to reduce infant mortality rate in the area

  19. Novel nervous and multi-system regenerative therapeutic strategies for diabetes mellitus with mTOR

    Directory of Open Access Journals (Sweden)

    Kenneth Maiese

    2016-01-01

    Full Text Available Throughout the globe, diabetes mellitus (DM is increasing in incidence with limited therapies presently available to prevent or resolve the significant complications of this disorder. DM impacts multiple organs and affects all components of the central and peripheral nervous systems that can range from dementia to diabetic neuropathy. The mechanistic target of rapamycin (mTOR is a promising agent for the development of novel regenerative strategies for the treatment of DM. mTOR and its related signaling pathways impact multiple metabolic parameters that include cellular metabolic homeostasis, insulin resistance, insulin secretion, stem cell proliferation and differentiation, pancreatic β-cell function, and programmed cell death with apoptosis and autophagy. mTOR is central element for the protein complexes mTOR Complex 1 (mTORC1 and mTOR Complex 2 (mTORC2 and is a critical component for a number of signaling pathways that involve phosphoinositide 3-kinase (PI 3-K, protein kinase B (Akt, AMP activated protein kinase (AMPK, silent mating type information regulation 2 homolog 1 (Saccharomyces cerevisiae (SIRT1, Wnt1 inducible signaling pathway protein 1 (WISP1, and growth factors. As a result, mTOR represents an exciting target to offer new clinical avenues for the treatment of DM and the complications of this disease. Future studies directed to elucidate the delicate balance mTOR holds over cellular metabolism and the impact of its broad signaling pathways should foster the translation of these targets into effective clinical regimens for DM.

  20. Infantile Renovascular Hypertension with Failure to Thrive.

    Science.gov (United States)

    Phillips, Amanda R; Eliason, Jonathan L; Stanley, James C; Coleman, Dawn M

    2016-05-01

    Severe hypertension in infancy is a rare cause of failure to thrive. The successful surgical management of this disease in an infant having refractory renovascular hypertension and growth failure is reported. Copyright © 2016 Elsevier Inc. All rights reserved.

  1. La Muerte en la Lírica Infantil Colonial Mexicana

    Directory of Open Access Journals (Sweden)

    Elsa Malvido

    2008-06-01

    Full Text Available En este trabajo presentaremos la importancia que la lírica infantil tuvo en la implantación de la cultura occidental en la Nueva España, rastrearemos sus orígenes, intenciones y permanencia en México, destacando uno de sus elementos más constantes: la muerte, así como el papel que desempeñó en las mentes infantiles que la cantaron y representaron. Podrán preguntarse ¿por qué la muerte? y responderemos que después de la conquista castellana de estas tierras, la muerte fue constante, masiva, cotidiana y permanente, todo lo cual se reflejó en las coplas populares; por ejemplo, en el material que hemos consultado compuesto de 193 canciones infantiles, en más de la mitad de ellas se hace referencia, se le menciona, nombra o es el título de las mismas.

  2. Cultura, self e autonomia: bases para o protagonismo infantil

    Directory of Open Access Journals (Sweden)

    Sergio Fernandes Senna Pires

    Full Text Available Neste artigo são discutidas as bases do protagonismo (ou participação infantil na sociedade: cultura, construção do self e autonomia. São apresentados os principais fundamentos teóricos da abordagem sociocultural construtivista ao se discutir o self como sistema complexo e dinâmico, co-construído mediante a interação entre sujeito ativo e canalizações culturais. Diante das práticas culturais relacionadas à institucionalização da infância, analisam-se como crenças e valores podem contribuir para a participação infantil nos processos decisórios e para a superação das limitações atuais. Conclui-se que a abordagem co-construtivista, efetivamente, pode contribuir para a promoção do protagonismo infantil, visto que destaca as dimensões da cultura e do sujeito construtivo, aí implicadas.

  3. El desarrollo de la creatividad en la Educación Infantil a través de los microrrelatos

    OpenAIRE

    Díaz Molinero, María

    2014-01-01

    Con mi Trabajo de Fin de Grado pretendo ofrecer una propuesta para trabajar en las aulas de educación infantil, congenieando un triple concepto: creatividad, imaginación y lenguaje. [...] Grado en Educación Infantil

  4. Historical overview of infantile visceral leishmaniasis in El Agamy, Alexandria, Egypt.

    Science.gov (United States)

    Kassem, Hala A; Beier, John C; El Sawaf, Bahira M

    2017-12-01

    Infantile visceral leishmaniasis (IVL) is considered a rare and neglected disease in Egypt. An outbreak of the disease in El Agamy, Alexandria occurred in 1982 although the disease was previously reported 80 years before. Epidemiological and entomological studies were conducted ever since the 1982 outbreak to identify human cases, the parasite, reservoir host and the sand fly vector. Leishmania infantum MON-98, a new and unique zymodeme, was responsible of the disease. Stray dogs acted as the reservoir host and Phlebotomus langeroni was the proven vector. The parasite isolates from human cases were identical to the parasite isolates from the reservoir host and the sand fly vector. The El Agamy focus in 1982 was basically a rural Bedouin setting of recently built cement houses surrounded by lime stone fences. The numbers of human cases of IVL in this area have been declining, with the last reported case in 2005. This coincides with the completion of irregular urbanization of El Agamy which resulted in the disappearance of P. langeroni. In this review, we characterize the old focus of IVL in El Agamy based on published literature to identify factors underlying the appearance and disappearance of the disease. Copyright © 2017 Elsevier B.V. All rights reserved.

  5. Efficacy of multisystemic therapy in youths aged 10-17 with severe antisocial behaviour and emotional disorders: systematic review.

    Science.gov (United States)

    Tan, Jia Xuan; Fajardo, Maria Lourdes Restrepo

    2017-11-01

    Antisocial behaviour and conduct disorders are the most common behavioural and mental health problems in children and young people globally. An efficacious intervention is needed to manage these antisocial behaviours that have costly consequences. Multisystemic Therapy (MST), an intensive home-based intervention for youths with psychosocial and behavioural problems, is recommended under National Institute for Health and Clinical Excellence guidelines for conduct disorder. However, reviews on the efficacy of MST are mixed. To review randomised controlled trials (RCTs) reporting efficacy of MST among youths presenting with antisocial behaviour and emotional disorder respectively. A systematic map term to subject heading search was conducted in PsycINFO, Embase, and Ovid Medline databases for articles up to November 2015. RCTs comparing MST vs.treatment as usual (TAU) in youths presenting with antisocial behaviour and emotional disorder were included. 12 RCTs ( n  = 1425) reported efficacy of MST vs. TAU in youths presenting with antisocial behaviour and emotional disorder. Clinically significant treatment effects of MST showed a reduction of antisocial behaviour which includes delinquency. MST, vs. psychiatric hospitalisation, was associated with a reduction of suicidal attempts in youths presenting with psychiatric emergencies. 4 studies showed that MST was less costly than TAU in the short term, with further analysis required for long-term cost-effectiveness. MST is an efficacious intervention for severe antisocial behaviours in reduction of delinquency and should be included in clinical practices. MST was shown to have a positive effect on emotional disorder but further research is needed to evaluate the efficacy of MST with emotional disorder. Further analysis is required to assess the services utilized for long-term cost effectiveness.

  6. O desenvolvimento corporal na educação infantil

    Directory of Open Access Journals (Sweden)

    Adriana Pacheco da Silva Santos

    2011-12-01

    Full Text Available Este artigo é resultado de um estudo realizado em uma creche pública pertencente à rede municipal de educação de Sinop - MT. Objetivamos compreender o movimento corporal das crianças como parte do desenvolvimento integral das crianças. E também entender como os profissionais trabalham a especificidade do corpo infantil, dos movimentos das crianças durante a rotina da instituição de uma turma de crianças de dois a três anos de idade. Optamos em focalizar a pesquisa na área da Educação Infantil por entender que as crianças desta faixa etária apresentam características importantes no desenvolvimento corporal, visto que muitas vezes na educação infantil o movimento é considerado como ‘indisciplina’, fazendo com que a criança, na maioria das vezes permanece quietas e sentadas em suas cadeiras. Diante de tal propósito, buscamos uma metodologia que nos possibilitasse apreender o movimento corporal da criança e encontramos na pesquisa qualitativa, através da ‘observação participante’, trilhas que nos conduziram à construção de conhecimentos. Como pesquisadora, permanecemos na instituição investigada por quase três meses, em horários intercalados, utilizando o caderno de campo, no qual registramos as observações realizadas, bem como as entrevistas com as professoras da referida turma. Os principais referenciais utilizados para o estudo foram: Vygotsky, Piaget, Vitor Fonseca e Henri Wallon. De acordo com o observado em campo e leituras teóricas, ressaltamos com este estudo a importância do movimento para as crianças e sua contribuição no desenvolvimento infantil pleno.Palavras-chave: educação; educação infantil; maternal II; movimento; sociointeracionismo.

  7. Intestinal obstruction secondary to infantile polyarteritis nodosa ...

    African Journals Online (AJOL)

    Polyarteritis Nodosa (PAN) is a rare systemic necrotising vasculitis of medium and small-sized arteries. Patients typically present with systemic symptoms. Obstructive intestinal symptoms are described but usually resolve with treatment of the underlying vascular disease. We report a case of a one year old boy with multiple ...

  8. The Protocol for the Early vs. Late Infantile Strabismus Surgery Study

    NARCIS (Netherlands)

    H.J. Simonsz (Huib)

    1993-01-01

    textabstractAbstract. The Early vs. Late Infantile Strabismus SurgerY Study Group is a group of strabismologists and orthoptists who investigate whether early or late surgery is preferable in infantile strabismus, in a non-randomized, prospective, multi-centre trial. Infants between 6 and 18 months

  9. Competencias desde la perspectiva intercultural para el grado de educación infantil

    Directory of Open Access Journals (Sweden)

    Fernando GONZÁLEZ ALONSO

    2005-01-01

    adecuar sus titulaciones hacia el Espacio Europeo de Educación Superior, a través de la planificación de los grados en Educación Infantil y Educación Primaria. La propuesta de competencias específicas desde la perspectiva intercultural para Educación infantil, puede resultar un interesante punto de partida.

  10. Lyme Disease: What the Wilderness Provider Needs to Know.

    Science.gov (United States)

    Forrester, Joseph D; Vakkalanka, J Priyanka; Holstege, Christopher P; Mead, Paul S

    2015-12-01

    Lyme disease is a multisystem tickborne illness caused by the spirochete Borrelia burgdorferi and is the most common vectorborne disease in the United States. Prognosis after initiation of appropriate antibiotic therapy is typically good if treated early. Wilderness providers caring for patients who live in or travel to high-incidence Lyme disease areas should be aware of the basic biology, epidemiology, clinical manifestations, and treatment of Lyme disease. Published by Elsevier Inc.

  11. Panhypopituitarism after multisystem trauma.

    Science.gov (United States)

    Wiechecka, Joanna; Krzewska, Aleksandra; Droń, Izabela; Beń-Skowronek, Iwona

    2013-01-01

    The pituitary gland plays a key role in hormonal regulation in the organism, contributing to maintenance of balance of basic vital functions. To emphasise the need for assessment of pituitary function after head injury, as correct diagnosis and hormone replacement therapy prove to be a life-saving therapy accelerating the recovery process. A healthy, normally developing 9-year-old girl, a child of young and healthy parents, was struck by a falling tree. The results of severe head trauma included adrenal crisis, hypothyroidism, and diabetes insipidus as manifestations of damage to the anterior and posterior pituitary gland. Administration of hormone replacement therapy, i.e. hydrocortisone, L-thyroxine, and desmopressin greatly improved the patient´s condition and facilitated effective rehabilitation. Determination of pituitary hormones in children after severe head injury should be an important part of diagnosis allowing identification of an early stage of acute hypopituitarism and acceleration of recovery through hormone replacement therapy.

  12. AUTOINFLAMMATORY DISEASES IN RHEUMATOLOGY: RUSSIAN EXPERIENCE

    Directory of Open Access Journals (Sweden)

    S. O. Salugina

    2016-01-01

    Full Text Available Autoinflammatory diseases (AIDs are characterized by periodic, sometimes self-limiting attacks that appear as fever and clinical symptoms resembling rheumatic ones, in the absence of autoimmune or infectious diseases. The group of AIDs encompasses a broad spectrum of nosological entities; some of them have been recently dealt with by rheumatologists.Objective: to define the spectrum of AIDs in the practice of a pediatric rheumatologist from the results of visits to the Russian Federal Rheumatology Center.Subjects and methods. The investigation enrolled patients who had visited the V.A. Nasonova Research Institute of Rheumatology in 2007 to 2015 for fever and other signs of a systemic inflammatory process in order to specify their diagnosis and to rule out infections, blood cancer, and other diseases. All underwent conventional rheumatologic examination, HLA Class A typing, and molecular genetic testing.Results and discussion. 101 patients aged 6.5 months to 60 years with AIDs were identified over 9 years and diagnosed as having the following diseases. Familial Mediterranean fever (FMF was detected in 17 patients (the female to male (M/F ratio was 6:11; Behсet's disease (BD in 25 children (M/F, 14:11, cryopyrin-associated periodic syndromes (CAPS in 17 patients, including Muckle–Wells syndrome in 13 (M/F, 4:9; chronic infantile neurologic cutaneous articular and neonatal onset multisystem inflammatory disease (CINCA/NOMID syndrome in 4 (M/F, 3:1, periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA syndrome in 17 (M/F, 10:7, hyper-IgD syndrome/mevalonate kinase deficiency syndrome in 3 (M/F, 0:3, tumor necrosis factor receptor periodic syndrome (TRAPS in 7 (M/F, 4:3, undifferentiated AID in 14, and Blau syndrome in one patient. The patients with BD were rather ethnically diverse: among them, there were representatives of North Caucasian peoples, Tatars, Uzbeks, Moldavians, and others; there were 7 ethnic Russians. There

  13. Cooling and denudation history of the Tsuruga body of Kojaku granite, southwest Japan, constrained from multi-system thermochronology

    International Nuclear Information System (INIS)

    Sueoka, Shigeru; Shimada, Koji; Ishimaru, Tsuneari; Umeda, Koji; Yasue, Ken-ichi; Niwa, Masakazu; Danhara, Tohru; Iwano, Hideki; Yagi, Koshi

    2016-01-01

    In this study, multi-system thermochronology, i.e., fission-track (FT), K-Ar and U-Pb methods are used to identify the cooling and denudation history of the Tsuruga body of Kojaku granite, southwest Japan. Apatite FT age of 51.8 ± 6.5 Ma, zircon FT age of 70.4 ± 2.0 Ma, biotite K-Ar ages of 66.7–62.0 Ma, and zircon U-Pb age of 68.5 ± 0.7 Ma were obtained for granitic samples, whereas plagioclase K-Ar ages of 19.1–18.8 Ma and whole-rock K-Ar age of 19.0 ± 2.9 Ma were inferred for the basaltic dyke intruding into the granite. The zircon FT lengths are not significantly shorter than their initial lengths, implying rapid cooling at the zircon FT partial annealing zone (PAZ). On the other hand, the apatite FT length distribution shows a typical pattern for granitic pluton without reheating, indicating a slow cooling history at the apatite FT PAZ. Based on the results of these thermochronometric analyses, inverse thermal calculations using the FT data, and simple thermal conduction modeling of the granitic body, the cooling and denudation histories of the Tsuruga body are reconstructed: (1) the Tsuruga body intruded at ca. 68 Ma, late Cretaceous, at a depth of several kilometers, (2) rapidly cooled to below the zircon FT PAZ by heat conduction within a few million years or less, and (3) slowly cooled due to peneplanation during the past 50–60 million years. On the other hand, the whole-rock Rb-Sr age previously reported for the Kojaku body is younger than when the cooling curve of the Tsuruga body obtained by this study intersects with the closure temperature of the whole-rock Rb-Sr system. This may imply a time lag between the formation ages of these bodies, but more thermochronometric studies are required to draw a definitive conclusion. The K-Ar ages of the basaltic dyke are interpreted as its formation age, indicating that dyke intrusion was associated with the Green Tuff movement. (author)

  14. Multisystemic engagement & nephrology based educational intervention: a randomized controlled trial protocol on the kidney team at home-study

    Directory of Open Access Journals (Sweden)

    Ismail Sohal Y

    2012-07-01

    Full Text Available Abstract Background Living donor kidney transplantation (LDKT is the most successful form of renal replacement therapy in terms of wait time and survival rates. However, we observed a significant inequality in the number of LDKT performed between the Dutch and the non-Dutch patients. The objective of this study is to adapt, implement and test an educational home-based intervention to contribute to the reduction of this inequality. Our aim is to establish this through guided communication together with the social network of the patients in an attempt that well-informed decisions regarding renal replacement therapy can be made: Multisystemic Engagement & Nephrology. This manuscript is a detailed description of the Kidney Team At Home-study protocol. Methods and design All patients (>18 yrs that are referred to the pre-transplantation outpatient clinic are eligible to participate in the study. Patients will be randomly assigned to either an experimental or a control group. The control group will continue to receive standard care. The experimental group will receive standard care plus a home-based educational intervention. The intervention consists of two sessions at the patient’s home, an initial session with the patient and a second session for which individuals from their social network are invited to take part. Based on the literature and behavioural change theories we hypothesize that reducing hurdles in knowledge, risk perception, subjective norm, self-efficacy, and communication contribute to well-informed decision making and reducing inequality in accessing LDKT programs. A change in these factors is consequently our primary outcome-measure. Based on power calculations, we aim to include 160 patients over a period of two years. Discussion If we are able to show that this home-based group educational intervention contributes to 1 achieving well-informed decision regarding treatment and 2 reducing the inequality in LDKT, the quality of life

  15. Maldi-Tof /Tof-MS Reveals Elevated Serum Haptoglobin and Amyloid A in Behcet's Disease

    NARCIS (Netherlands)

    Mao, L.; Dong, H.; Yang, P.; Zhou, H.; Huang, X.; Lin, X.; Kijlstra, A.

    2008-01-01

    Behcet¿s disease (BD) is a multisystemic autoimmune disease with unclear etiology and pathogenesis. To screen aberrant serum proteins in BD, serum samples were obtained from eight male BD patients with active uveitis and eight male healthy volunteers with informed consent. The serum samples from

  16. A rare case of juvenile-onset Behçet's disease: Fournier's gangrene ...

    African Journals Online (AJOL)

    Behçet's disease (BD) is a multisystemic, inflammatory disease with still unknown etiology and rarely seen in childhood. BD has worse prognosis in young, male patients. BD exacerbations may be triggered by viral, bacterial, and other undefined antigenic stimuli in genetically predisposed individuals. Fournier's gangrene ...

  17. From Pulmonary Embolism to Inflammatory Bowel Disease; Give Tunnel Vision up.

    Science.gov (United States)

    Tajdini, Masih; Hosseini, Seyed Mohammad Reza

    2016-01-01

    Inflammatory bowel disease (IBD) is a multisystem disorder with gastrointestinal tract involvement. These patients have the higher risk for thromboembolic events compared to normal population. This report describes a unique case of pulmonary embolism as a first manifestation of inflammatory bowel disease.

  18. Infantile fibrosarcoma: Magnetic resonance imaging findings in six cases

    Energy Technology Data Exchange (ETDEWEB)

    Canale, Sandra [Department of Radiology, Institut Gustave-Roussy, 39 rue Camille Desmoulins, 94805 Villejuif (France)], E-mail: canalesandra@yahoo.com; Vanel, Daniel [Department of Radiology, Institut Gustave-Roussy, 39 rue Camille Desmoulins, 94805 Villejuif (France); Istituti Ortopedici Rizzoli, 1/10 via di Barbiano, 40136 Bologna (Italy); Couanet, Dominique [Department of Radiology, Institut Gustave-Roussy, 39 rue Camille Desmoulins, 94805 Villejuif (France); Patte, Catherine [Department of Pediatrics, Institut Gustave-Roussy, 39 rue Camille Desmoulins, 94805 Villejuif (France); Caramella, Caroline; Dromain, Clarisse [Department of Radiology, Institut Gustave-Roussy, 39 rue Camille Desmoulins, 94805 Villejuif (France)

    2009-10-15

    Purpose: To retrospectively review magnetic resonance (MR) imaging features in a series of six infantile fibrosarcomas to find out if MR can suggest this unusual diagnosis and to highlight the value of MR during and following treatment. Materials and methods: The records of six cases of histologically proven infantile fibrosarcoma were retrieved from the files of our cancer center. All imaging data available were consensually reviewed by two radiologists. Results: There were five females and one male (age range at diagnosis, 0-12 months; mean, 6 months). The most common finding was a well-circumscribed single mass in five patients (83%). All tumors had arisen on limbs; at their proximal or distal extremity or at the root of the limb. The masses were 9 cm large in mean diameter. The initial tumor signal was isointense to muscle on T1-weighted and hyperintense on T2-weighted sequences. All masses were well circumscribed and half of them contained internal fibrous septa. The internal signal was homogeneous in three patients and heterogeneous in the three others. An intense enhancement was seen in all three contrast-enhanced exams available; heterogeneous in two cases and homogeneous in one. Osseous erosion was observed in only one patient who was the only one with distant metastasis. After treatment (chemotherapy and very limited surgery), tumors had totally disappeared, leaving muscle fat infiltration in two patients and subcutaneous fat hypertrophy in one patient. Conclusion: Although imaging findings are not specific of infantile fibrosarcoma, this diagnosis could be suggested when MR imaging depicts a large well-circumscribed mass arising in a limb at birth or during the neonatal period. This mass is sometimes heterogeneous and septate and exhibits an isointense T1- and hyperintense T2-weighted signals and strong enhancement. MR is also the technique of choice for follow-up during treatment which consists nowadays almost exclusively in chemotherapy.

  19. A randomized, controlled trial of oral propranolol in infantile hemangioma.

    Science.gov (United States)

    Léauté-Labrèze, Christine; Hoeger, Peter; Mazereeuw-Hautier, Juliette; Guibaud, Laurent; Baselga, Eulalia; Posiunas, Gintas; Phillips, Roderic J; Caceres, Hector; Lopez Gutierrez, Juan Carlos; Ballona, Rosalia; Friedlander, Sheila Fallon; Powell, Julie; Perek, Danuta; Metz, Brandie; Barbarot, Sebastien; Maruani, Annabel; Szalai, Zsuzsanna Zsofia; Krol, Alfons; Boccara, Olivia; Foelster-Holst, Regina; Febrer Bosch, Maria Isabel; Su, John; Buckova, Hana; Torrelo, Antonio; Cambazard, Frederic; Grantzow, Rainer; Wargon, Orli; Wyrzykowski, Dariusz; Roessler, Jochen; Bernabeu-Wittel, Jose; Valencia, Adriana M; Przewratil, Przemyslaw; Glick, Sharon; Pope, Elena; Birchall, Nicholas; Benjamin, Latanya; Mancini, Anthony J; Vabres, Pierre; Souteyrand, Pierre; Frieden, Ilona J; Berul, Charles I; Mehta, Cyrus R; Prey, Sorilla; Boralevi, Franck; Morgan, Caroline C; Heritier, Stephane; Delarue, Alain; Voisard, Jean-Jacques

    2015-02-19

    Oral propranolol has been used to treat complicated infantile hemangiomas, although data from randomized, controlled trials to inform its use are limited. We performed a multicenter, randomized, double-blind, adaptive, phase 2-3 trial assessing the efficacy and safety of a pediatric-specific oral propranolol solution in infants 1 to 5 months of age with proliferating infantile hemangioma requiring systemic therapy. Infants were randomly assigned to receive placebo or one of four propranolol regimens (1 or 3 mg of propranolol base per kilogram of body weight per day for 3 or 6 months). A preplanned interim analysis was conducted to identify the regimen to study for the final efficacy analysis. The primary end point was success (complete or nearly complete resolution of the target hemangioma) or failure of trial treatment at week 24, as assessed by independent, centralized, blinded evaluations of standardized photographs. Of 460 infants who underwent randomization, 456 received treatment. On the basis of an interim analysis of the first 188 patients who completed 24 weeks of trial treatment, the regimen of 3 mg of propranolol per kilogram per day for 6 months was selected for the final efficacy analysis. The frequency of successful treatment was higher with this regimen than with placebo (60% vs. 4%, P<0.001). A total of 88% of patients who received the selected propranolol regimen showed improvement by week 5, versus 5% of patients who received placebo. A total of 10% of patients in whom treatment with propranolol was successful required systemic retreatment during follow-up. Known adverse events associated with propranolol (hypoglycemia, hypotension, bradycardia, and bronchospasm) occurred infrequently, with no significant difference in frequency between the placebo group and the groups receiving propranolol. This trial showed that propranolol was effective at a dose of 3 mg per kilogram per day for 6 months in the treatment of infantile hemangioma. (Funded by

  20. Maltrato infantil: normatividad y psicología forense

    OpenAIRE

    Gerardo A. Hernández M.; Ángela C. Tapias S.

    2010-01-01

    El presente trabajo documental, de carácter pedagógico, está dirigido a profesionales que trabajen con casos de maltrato infantil. Introduce al lector sobre la normatividad y las instituciones que se encargan de la protección y atención al menor maltratado, además de los instrumentos de evaluación psicológica forense utilizados. Se presenta el aporte de la psicología jurídica para probar el daño psicológico. Finalmente, se propone como plan de acción recurrir a mecanismos alternativos, menos ...

  1. Plan de negocio de una escuela infantil (primer ciclo)

    OpenAIRE

    San Román Gómez, Ana de

    2014-01-01

    El presente documento establece los pasos a seguir para poner en marcha una escuela infantil en el barrio de Butarque, en Madrid. En un primer lugar se han realizado diversos estudios, tanto sobre el sector como sobre el área geográfica, ya que se partía de una situación de absoluto desconocimiento. En el análisis del sector se ha puesto de manifiesto que las competencias en educación en España están reguladas por el Ministerio en primera instancia, pero las Autonomías tienen también una g...

  2. El discurso peritextual en el libro ilustrado infantil y juvenil

    Directory of Open Access Journals (Sweden)

    Elena Consejo Pano

    2014-12-01

    Full Text Available El presente artículo es fruto de una reflexión sobre la evolución del libro ilustrado infantil y juvenil como objeto en sí mismo, un objeto que traspasa límites y se reinventa día tras día. Nos centramos en cómo autores y editores trasgreden estándares y quiebran normas editoriales y de encuadernación consideradas inamovibles por la tradición, transformando los peritextos (Genette, 2001 en piezas clave en el juego de la reconstrucción de sentidos.

  3. Encuadrando corazones: el encuadre arteterapeutico en el hospital infantil

    OpenAIRE

    Cock Moncada, Adriana

    2013-01-01

    El presente trabajo de investigación, pretende reflexionar acerca de las dificultades que existen al interior de un hospital infantil para establecer un encuadre arteterapéutico adecuado. Así mismo, trata de dar cuenta de los ajustes que se pueden realizar en la intervención arteterapéutica con relación al encuadre, para conseguir crear un espacio de creatividad saludable que ayude a mejorar la calidad de vida de los niños y niñas hospitalizados. Finalmente, intenta arrojar una luz para futur...

  4. Impacto del Plan Nacer sobre la mortalidad infantil en Argentina

    OpenAIRE

    Garriga, Santiago

    2012-01-01

    El Plan Nacer es un programa del Ministerio de Salud de la Nación Argentina que invierte recursos con el objetivo de mejorar la cobertura y calidad de los servicios de salud en niños menores de seis años, mujeres embarazadas y puérperas que no poseen obra social. La novedad del mismo radica en la generación de un seguro público de salud para la población materno-infantil sin cobertura social y en la aplicación de un modelo de financiamiento basado en resultados. Este trabajo investiga los efe...

  5. Diffusion, Perfusion, and Histopathologic Characteristics of Desmoplastic Infantile Ganglioglioma.

    Science.gov (United States)

    Ho, Chang Y; Gener, Melissa; Bonnin, Jose; Kralik, Stephen F

    2016-07-01

    We present a case series of a rare tumor, the desmoplastic infantile ganglioglioma (DIG) with MRI diffusion and perfusion imaging quantification as well as histopathologic characterization. Four cases with pathologically-proven DIG had diffusion weighted imaging (DWI) and two of the four had dynamic susceptibility contrast imaging. All four tumors demonstrate DWI findings compatible with low-grade pediatric tumors. For the two cases with perfusion imaging, a higher relative cerebral blood volume was associated with higher proliferation index on histopathology for one of the cases. Our results are discussed in conjunction with a literature review.

  6. Los refuerzos positivos en el aula de infantil

    OpenAIRE

    Martínez Álvarez, Elena

    2013-01-01

    Este estudio ha sido realizado con el fin de analizar si el refuerzo positivo es un medio adecuado, o no para producir un mejor ambiente de trabajo en el aula de infantil, y si puede producir mejores resultados académicos, es decir, si puede mejorar el proceso de enseñanza – aprendizaje. Para poder contestar a esta cuestión vamos a analizar determinadas teorías e hipótesis relacionadas con este tema. Además vamos a poner en práctica una serie de actividades prácticas relacionadas con este ...

  7. Effectiveness of propanolol for treatment of infantile haemangioma

    DEFF Research Database (Denmark)

    Andersen, Ida Gillberg; Rechnitzer, Catherine; Charabi, Birgitte

    2014-01-01

    INTRODUCTION: Infantile haemangiomas (IH) are the most common benign tumours in children. They are characterised by rapid growth during the first year of life followed by spontaneous regression during childhood. Indications for treatment are functional impairment, bleeding/ulceration, rapid growth...... and severe aesthetic risk. Recently, systemic treatment with propranolol has become the first-line therapy. The objective of this study was to assess the efficacy of propranolol in the treatment of IH and to investigate whether treatment with a low dose of 1 mg/kg/day was sufficient. MATERIAL AND METHODS...... large residual changes. FUNDING: not relevant. TRIAL REGISTRATION: not relevant....

  8. Neonatal and infantile erythroderma: ′The red baby′

    Directory of Open Access Journals (Sweden)

    Sarkar Rashmi

    2006-01-01

    Full Text Available Neonatal and infantile erythroderma or "the red baby" is a rare condition. It can be potentially life-threatening and requires urgent attention of the dermatologists. The causes of erythroderma in this age group are different from that in adults and distinctive, but maybe difficult to establish due to poor specificity of clinical and laboratory findings. Careful monitoring and management of the patient may improve the final outcome. In this review, the various causes of "the red baby" is discussed along with its prognosis and management.

  9. La salud emocional en Educación Infantil

    OpenAIRE

    García Gómez, Sandra

    2015-01-01

    En este trabajo se presenta una propuesta para trabajar las emociones en educación infantil, persiguiendo de esta forma lograr una correcta salud emocional que ayude a los niños y niñas a prevenir futuros problemas derivados de las emociones. En la propuesta que se plantea se introducen técnicas diferentes con las que se otorga a los alumnos y alumnas unas capacidades emocionales para que posean un control sobre sus emociones y sepan establecer unos límites a sus sentimientos. Grado en Edu...

  10. Congenital infantile myofibroma causing intrauterine death in a twin

    Science.gov (United States)

    Aye, Christina Yi Ling; Gould, Steve; Akinsola, S Adeyemi

    2011-01-01

    While infantile myofibromatosis is the most common mesenchymal tumour of infancy, only around 300 cases have been reported. The authors report a 33-year-old para 1 with an uncomplicated, dichorionic diamniotic twin pregnancy who was diagnosed with an intrauterine death of one twin at 36+5 weeks gestation. At caesarean section, a macerated male stillborn weighing 2.72 kg was delivered. Postmortem examination revealed a pedunculated lesion attached to the left shoulder and underlying muscle consistent with a congenital myofibroma. The cause of death was postulated to be haemorrhage from the tumour surface causing fetal anaemia. PMID:22674951

  11. Infantile hydrocephalus: a review of epidemiology, classification and causes

    Science.gov (United States)

    Tully, Hannah M; Dobyns, William B

    2015-01-01

    Hydrocephalus is a common but complex condition caused by physical or functional obstruction of CSF flow that leads to progressive ventricular dilatation. Though hydrocephalus was recently estimated to affect 1.1 in 1,000 infants, there have been few systematic assessments of the causes of hydrocephalus in this age group, which makes it a challenging condition to approach as a scientist or as a clinician. Here, we review contemporary literature on the epidemiology, classification and pathogenesis of infantile hydrocephalus. We describe the major environmental and genetic causes of hydrocephalus, with the goal of providing a framework to assess infants with hydrocephalus and guide future research. PMID:24932902

  12. El diagnóstico positivo de autismo infantil

    Directory of Open Access Journals (Sweden)

    Juana Velázquez Argota

    1996-08-01

    Full Text Available Se revisan los límites del síndrome autístico y la evolución del concepto de autismo infantil desde Kanner hasta las clasificaciones psiquiátricas más recientes. Se informan los resultados de nuestras investigaciones en el diagnóstico positivo del autismo infantil. La anamnesis remota es de poco valor, más relevantes para el diagnóstico constituyen el examen del paciente en el presente y las escalas de cuantificación del autismo (las cuales son de utilidad en el diagnóstico diferencial entre el trastorno autístico tipo Kanner y los trastornos autísticos atípicos. Las pruebas de inteligencia standard se deben aplicar según el nivel de funcionamiento del paciente y si no clasificara es más bien por el bajo cociente de inteligencia que por su comportamiento autístico. El clínico debería tener presente la posibilidad del diagnóstico de autismo cuando examina niños pequeños con problemas de desarrollo y utilizar escalas de síntomas autísticos adecuados a los primeros años de vida. Se recomienda el uso de la prueba de Bo Olsson en el diagnóstico diferencial de autismo de Kanner, síndrome de Rett y daño cerebral temprano en la etapa preescolar.The limits of the austistic syndrome as well as the evolution of the infantile autism concept since Kanner to the latest psychiatric classifications are reviewed. The results of our research on the positive diagnosis of infantile autism are reported. The patient's medical examination and the autism quantification scales (useful for the diferential diagnosis between the Kanner type autistic disorder and the atypical autistic disorders are more important for the diagnosis than the remote anamnesis, which is of little value. The standard intelligence test should be applied according to the patients functioning level and if he would not classify it would be because of his low intelligence quotient and not because of his autistic behaviour. The clinician should take into account the

  13. Short term effect of vigabatrin in infantile spasms

    OpenAIRE

    Pozo Alonso, Albia J.; Pozo Lauzán, Desiderio; Cordero López, Girelda

    2007-01-01

    El objetivo de este trabajo fue valorar el efecto a corto plazo de la vigabatrina en 18 pacientes con el diagnóstico de espasmos infantiles. Trece pacientes fueron tratados en monoterapia, y 6 de ellos de primera intención. La dosis máxima promedio utilizada de vigabatrina fue de 130 mg/ (kg∙día) (rango de 75 a 170 mg/ [kg∙día]). Los espasmos epilépticos cesaron en el 44,4 % de los casos a los 18,4 días como promedio tras el inicio del tratamiento con vigabatrina (rango de 3 a 43 ...

  14. Trabajo infantil y problemas del comportamiento en menores trabajadores

    OpenAIRE

    Cardenas Ramirez, Luz Stella

    2016-01-01

    Objetivo: Identificar la relación de los factores de riesgo ocupacional del trabajo infantil con los problemas de comportamiento en menores de edad trabajadores de una plaza de mercado en Colombia Materiales y métodos: Se realizó un estudio de corte transversal con 100 niños trabajadores de la plaza de Mercaneiva. Se aplicó un cuestionario para evaluar los factores ocupacionales en la población, evaluando aspectos sociodemográficos y condiciones laborales; para establecer la prevalencia d...

  15. Lenguaje infantil y educación verbal

    OpenAIRE

    Fernández Pérez, Milagros

    2013-01-01

    Comunicación presentada en: "V Congreso Mundial de Educación Infantil y Formación de Educadores. Antequera, 31 de octubre, 1 y 2 de noviembre de 2013, en Antequera" El trabajo subraya la importancia de contemplar el desarrollo lingüístico en sus procesos y etapas, y la necesidad de acomodar la educación verbal a las etapas evolutivas Ministerio de Ciencia y Tecnología (HUM 2007-66074-CO2-01/FILO) Xunta de Galicia. Consellería de Economía e Industria. Dirección xeral de Investigación, De...

  16. Crecimiento y estado nutricional infantil en San Salvador de Jujuy

    Directory of Open Access Journals (Sweden)

    Bejarano, Ignacio

    2001-01-01

    Full Text Available La recolección de datos antropométricos dentro de un programa de asistencia sanitaria y alimentaria permite definir el estado nutricional y de salud de los individuos y en base a esta información planificar, ejecutar y valorar la incidencia de dicho programa en la población. El objetivo de este trabajo fue evaluar el crecimiento y estado nutricional de una población infantil (1-5 años residente en barrios periféricos de San Salvador de Jujuy y comprendida en el Programa Materno Infantil (PROMIN. Los datos procedieron de mediciones de peso (kg y talla (cm realizadas en 4616 niños, los que se agruparon por sexo y edad decimal. Los indicadores utilizados fueron: peso, talla, puntuación z (Pz, índice de masa corporal (IMC. Los resultados indicaron que: 1 la mayoría de la población se encontró entre 2z: 98,9% para talla/edad (T/E y 96.6% para peso/edad (P/E (estándar nacional; 99.4% para T/E y 97.7% para P/E (estándar internacional; 2 los valores promedios del IMC en todos los grupos de edad y en ambos sexos, fueron superiores a los de referencia, resultando estas diferencias estadísticamente significativas (p<0.01. Se concluye que el crecimiento y el estado nutricional de esta población se ajusta al de las poblaciones de referencia nacional e internacional y que, probablemente este comportamiento, el cual no refleja la situación general del resto de las poblaciones infantiles de la Provincia de Jujuy, responda al efecto de la asistencia alimentaria, médica y sanitaria ofrecida por el PROMIN y a las características socioeconómicas, demográficas y culturales propias de esta población infantil.

  17. El timerosal y las enfermedades del neurodesarrollo infantil

    OpenAIRE

    Luis Maya; Flora Luna

    2006-01-01

    Se evalúa la relación causal entre el timerosal (etilmercurio), como preservante en las vacunas pediátricas, y el incremento de casos de enfermedades del neurodesarrollo infantil, como consecuencia de la ampliación de los esquemas de inmunización. Se revisó la información científica, relacionando el timerosal y las evidencias que permitan evaluar una posible asociación causal, con estudios epidemiológicos, ecológicos, biomoleculares y toxicológicos, de bioseguridad, toxicológicos fetales y so...

  18. The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

    DEFF Research Database (Denmark)

    Ng, Yi Shiau; Alston, Charlotte L; Diodato, Daria

    2016-01-01

    BACKGROUND: Mutations in the RMND1 (Required for Meiotic Nuclear Division protein 1) gene have recently been linked to infantile onset mitochondrial disease characterised by multiple mitochondrial respiratory chain defects. METHODS: We summarised the clinical, biochemical and molecular genetic in...

  19. Un acercamiento al cuento infantil desde la perspectiva de género. Estereotipos en el cuento infantil

    Directory of Open Access Journals (Sweden)

    Nuria Méndez-Garita

    2004-12-01

    Full Text Available ¿Cuáles son los papeles que desempeñan cada una de las mujeres que son parte de la sociedad? ¿Cómo exige un hombre que se comporte una mujer? ¿Habrán cambiado los estereotipos femeninos y masculinos que muy claramente nos presentan los cuentos? ¿Seguimos propiciando como personas los estereotipos? ¿Se está dando la inversión tanto en los cuentos como en nuestras vidas? A partir de mito griego de la Medusa, se introduce el tema del género y la literatura, sobre todo en aquella que se reconoce como literatura infantil. Desde la perspectiva de género, se pueden tratar diferentes tópicos, en este caso, el artículo se centra en los estereotipos y confrontan los que se derivan de la mujer ángel y la mujer demonio. A lo largo de la historia, la elaboración del mundo simbólico, del significado y del sentido han estado en las mentes de los varones, los que han configurado una representación del mundo a su imagen y semejanza. Son ellos el prototipo, patrón y medida de lo existente. En los cuentos infantiles podemos ver claramente los estereotipos impuestos por la cultura patriarcal; pero también, cómo algunos de ellos son capaces de subvertir el orden establecido. Lo más importante es que la lectura de cuentos infantiles y de la literatura en general, sirve para movernos y conmovernos como lectores; para que nos marque, porque nos interpela.

  20. Optimal diagnostic strategy for infantile cholestasis in pediatric surgery

    International Nuclear Information System (INIS)

    Kato, Hisataka; Fumino, Shigehisa; Furukawa, Taizo; Ono, Shigeru; Kimura, Osamu; Deguchi, Eiichi; Iwai, Naomi

    2011-01-01

    The initial goal in treatment for infantile cholestasis is to exclude surgical cholestasis, especially biliary atresia (BA). In this study, we retrospectively reviewed the diagnostic course of infantile cholestasis. Between 2000 and 2009, a total of 44 infants with cholestasis were referred to our department. The median age at admission was 54 days (range: 0-143 days). The medical charts of these infants were reviewed. The initial diagnostic approach was ultrasonography followed by the qualitative detection of bilirubin in stool. The 35 infants with acholic stool and/or a small or absent gallbladder on ultrasonography were subsequently examined by hepatobiliary scintigraphy (HBS). Twenty-nine infants with negative scintigraphy findings underwent intraoperative cholangiography (lOC), and BA was finally confirmed in 24 of 44. A choledochal cyst was noted in 2, Alagille syndrome in 2, cytomegalovirus infection in 2, panhypopituitarism in 2, multiple hemangiomas of the liver in 1, and cholecystolithiasis in 1. The remaining 10 infants were diagnosed as having neonatal hepatitis. The sensitivity and specificity of HBS for BA were 100% and 54.5%, respectively. HBS is a useful modality for detection of BA with a sensitivity of 100%. The indication for IOC should depend on these scan results. (author)

  1. La trata de personas en la modalidad de trabajo infantil

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    Angélica García Marbella

    2017-01-01

    Full Text Available En este trabajo se describen las causas y el proceso evolutivo del trabajo infantil en México; sin embargo, en la exposición se retoman elementos que identifican el problema en el contexto mundial. En ese sentido, se destaca que durante algún tiempo el quehacer de los infantes en el mercado de trabajo era considerado como un medio para que aprendieran determinado oficio, así como que dicha connotación no ha dejado de existir, pero ahora coexiste con otras tendencias asociadas a la delincuencia organizada, tales como prostitución, pornografía y turismo infantil; es decir, con actividades vinculadas estrechamente con la trata de personas. La pretensión es evidenciar el problema y las principales prácticas de quienes llevan a cabo dicho comportamiento; por lo que hubo necesidad de recurrir a la aplicación de una entrevista focalizada, basada en ocho informantes, con la finalidad de conocer la percepción de personas involucradas en dicha problemática. Al final del trabajo, lo observado es que la problemática en cuestión sigue creciendo en México; situación que es corroborada por los datos que aportan diversas instituciones, que señalan que en la actualidad este país ocupa el primer lugar en dicho comportamiento.

  2. El desarrollo de la marcha infantil como proceso de aprendizaje

    Directory of Open Access Journals (Sweden)

    Patricia Martín Casas

    2014-06-01

    Full Text Available El desarrollo de la marcha infantil es un proceso especialmente complejo en que el intervienen factores motores, perceptivos y cognitivos. Desde el nacimiento, el niño integra la información recibida y realiza un progresivo control cortical sobre los patrones neuromotores innatos para desarrollar diferentes formas de locomoción hasta la marcha independiente. Estas ideas no son novedosas pero se están revisando en la actualidad y han motivado numerosos cambios en el estudio del desarrollo infantil. La consideración de la adquisición de la marcha como un aprendizaje en situaciones de constante cambio permite comprender la marcha como acción, cuya realización implica la adquisición de nuevas capacidades de interacción y conocimientos. En este trabajo se exponen los principales conocimientos acerca de este proceso de aprendizaje y se propone destacar las alteraciones de la marcha como indicadores de dificultades en el desarrollo, que requieren una valoración y un abordaje terapéutico interdisciplinares.

  3. Interacciones vinculares en el sistema de cuidado infantil

    Directory of Open Access Journals (Sweden)

    María Teresa Moreno - Zavaleta

    2014-01-01

    Full Text Available El estudio identifica y analiza las interacciones vinculares existentes en el sistema de cuidado infantil de niños con y sin desnutrición crónica en un mismo contexto de pobreza. Este es un estudio multimétodo, basado en información de campo recopilada y en una construcción teórica que emergió a partir de los resultados obtenidos, ampliando el marco conceptual de la desnutrición infantil. La constelación y gestión del cuidado son dos categorías emergentes, que contribuyen a comprender que en los diferentes escenarios donde transitan los niños hay diversos cuidadores que varían en calidad, permanencia y coherencia repercutiendo esta situación en su estado nutricional. Si bien las mujeres se constituyen en las gestoras principales del cuidado, no son ellas las únicas responsables del cuidado y por ello se recomienda fortalecer las redes de apoyo familiar y comunitario.

  4. Clinical research of benign infantile convulsions with mild gastroenteritis

    Directory of Open Access Journals (Sweden)

    Wei-bing LI

    2014-03-01

    Full Text Available Cases of benign infantile convulsions with mild gastroenteritis (BICE treated in our hospital from 2008 to 2012 were analyzed retrospectively. Among the 65 cases of convulsions with acute diarrhea, there were 18 cases of BICE, 15 cases of febrile seizures, 13 cases of epilepsy, 6 cases of viral encephalitis, 6 cases of hyponatremia encephalopathy, 3 cases of hypernatremia encephalopathy, 2 cases of toxic encephalopathy, and 2 cases of hypocalcemia convulsion. The convulsion occurred mostly during the first 2 d of the illness and was in a generalized tonic or tonic-clonic form. Positive rotavirus antigens in the BICE patients were detected in 83.33% (15/18. Phenobarbital was administered after the first convulsion (5-10 mg/kg, and diazepam was given intravenously in case of recurrence (0.10-0.30 mg/kg. BICE occurs frequently in infantile and controlling relapse is the main purpose. The prognosis is good. doi: 10.3969/j.issn.1672-6731.2014.03.019

  5. Nascidos para comprar: notas sobre o consumismo infantil

    Directory of Open Access Journals (Sweden)

    Ana Augusta Ferreira de Freitas

    2015-10-01

    Full Text Available http://dx.doi.org/10.5007/1980-4512.2015n31p210 O objetivo desse trabalho é analisar os fatores que levam o público infantil a buscar, precocemente, serviços estéticos oferecidos em salões de beleza. Uma pesquisa de campo foi conduzida junto a seis díades de mães com suas respectivas filhas. Como estratégia de pesquisa, uma narrativa ficcional foi conduzida com as crianças; enquanto entrevistas foram usadas com as mães. Como resultado, observou-se que vários estímulos levam as crianças a consumirem serviços estéticos. Entre estes, a referência materna, as influências de familiares, amigos da escola e da mídia, através da televisão e internet. De forma secundária, foi registrado que os serviços mais desejados e consumidos pelo público infantil foram os de manicure e cabelereiro. Em termos de papeis, as mães adquirem o serviço, e dividem com suas filhas o papel de decisão, ao determinarem, juntas, como o consumo acontecerá.

  6. CT and MR imaging characteristics of infantile hepatic hemangioendothelioma

    International Nuclear Information System (INIS)

    Feng Shiting; Chan Tao; Ching, A.S.C.; Sun Canhui; Guo Huanyi; Fan Miao; Meng Quanfei; Li Ziping

    2010-01-01

    Aim: This study aims to analyze computed tomography (CT) and magnetic resonance (MR) imaging features of infantile hepatic hemangioendotheliomas before and after treatment. Materials and methods: CT and MR examinations of seven infants with biopsy proven hepatic hemangioendotheliomas were retrospectively analyzed. The distribution, number, size, imaging appearance, enhancement pattern and post-treatment changes of the tumors were evaluated. Results: A total of 153 hepatic hemangioendotheliomas were detected on CT (111) and MR (42) imaging. In six infants, 109/111 (98.2%) tumors were hypodense and 2/111 (1.8%) lesions contained calcification on unenhanced CT. On MR imaging, all 42 lesions in one infant were heterogeneously T1-hypointense and T2-hyperintense compared to the normal liver parenchyma. Contrast-enhanced CT and MRI showed peripheral rim (51.6%), uniform (48.4%), fibrillary (33.3%), and nodular (28.8%) contrast enhancement in the hepatic arterial phase. Homogeneous (100%), rim (98.2%) and mixed enhancement patterns were noted in tumors 2.0 cm and 1.0-2.0 cm in diameter respectively in the hepatic arterial phase. In three patients who underwent steroid therapy, follow-up CT examination demonstrated tumor size reduction and increased intra-tumoral calcification in two patients. Conclusion: Infantile hepatic hemangioendotheliomas show some typical imaging features and size-dependent pattern of contrast enhancement on CT and MR imaging, which allow accurate imaging diagnosis and post-treatment evaluation.

  7. The heart and cardiac pacing in Steinert disease

    OpenAIRE

    NIGRO, GERARDO; PAPA, ANDREA ANTONIO; POLITANO, LUISA

    2012-01-01

    Myotonic dystrophy (Dystrophia Myotonica, DM) is the most frequently inherited neuromuscular disease of adult life. It is a multisystemic disease with major cardiac involvement. Core features of myotonic dystrophy are myotonia, muscle weakness, cataract, respiratory failure and cardiac conduction abnormalities. Classical DM, first described by Steinert and called Steinert's disease or DM1 (Dystrophia Myotonica type 1) has been identified as an autosomal dominant disorder associated with the p...

  8. Cerebrospinal fluid biomarkers of infantile congenital hydrocephalus

    Science.gov (United States)

    Limbrick, David D.; Baksh, Brandon; Morgan, Clinton D.; Habiyaremye, Gakwaya; McAllister, James P.; Inder, Terrie E.; Mercer, Deanna; Holtzman, David M.; Strahle, Jennifer; Wallendorf, Michael J.; Morales, Diego M.

    2017-01-01

    Introduction Hydrocephalus is a complex neurological disorder with a pervasive impact on the central nervous system. Previous work has demonstrated derangements in the biochemical profile of cerebrospinal fluid (CSF) in hydrocephalus, particularly in infants and children, in whom neurodevelopment is progressing in parallel with concomitant neurological injury. The objective of this study was to examine the CSF of children with congenital hydrocephalus (CHC) to gain insight into the pathophysiology of hydrocephalus and identify candidate biomarkers of CHC with potential diagnostic and therapeutic value. Methods CSF levels of amyloid precursor protein (APP) and derivative isoforms (sAPPα, sAPPβ, Aβ42), tau, phosphorylated tau (pTau), L1CAM, NCAM-1, aquaporin 4 (AQP4), and total protein (TP) were measured by ELISA in 20 children with CHC. Two comparative groups were included: age-matched controls and children with other neurological diseases. Demographic parameters, ventricular frontal-occipital horn ratio, associated brain malformations, genetic alterations, and surgical treatments were recorded. Logistic regression analysis and receiver operating characteristic curves were used to examine the association of each CSF protein with CHC. Results CSF levels of APP, sAPPα, sAPPβ, Aβ42, tau, pTau, L1CAM, and NCAM-1 but not AQP4 or TP were increased in untreated CHC. CSF TP and normalized L1CAM levels were associated with FOR in CHC subjects, while normalized CSF tau levels were associated with FOR in control subjects. Predictive ability for CHC was strongest for sAPPα, especially in subjects ≤12 months of age (p<0.0001 and AUC = 0.99), followed by normalized sAPPβ (p = 0.0001, AUC = 0.95), tau, APP, and L1CAM. Among subjects ≤12 months, a normalized CSF sAPPα cut-point of 0.41 provided the best prediction of CHC (odds ratio = 528, sensitivity = 0.94, specificity = 0.97); these infants were 32 times more likely to have CHC. Conclusions CSF proteins such as s

  9. Infantile holocord cellular ependymoma with communicating hydrocephalus: unusual presentation of a rare case.

    Science.gov (United States)

    Aryan, Saritha; Ghosal, Nandita; Aziz, Zarina A; Hegde, A S; Dadlani, Ravi

    2014-01-01

    We present a case of infantile holocord ependymoma in a 4-month-old boy who presented with infection of ventriculoperitoneal shunt done elsewhere for a communicating hydrocephalus. On magnetic resonance imaging, a diffuse holocord T2-hyperintense, T1-hypointense intramedullary bulky lesion with syringomyelia in the cervical level was seen. To the best of our knowledge, this is the first case of infantile holocord ependymoma. As the extent of morbidity associated with a spinal cord tumor is high, an increased level of suspicion and the need for a complete spinal cord screening in a case of infantile hydrocephalus without obvious clinical and radiological evidence of intracranial abnormality is emphasized.

  10. Lógico matemática y psicomotricidad en Educación Infantil

    OpenAIRE

    Carrera Alonso, Ana

    2015-01-01

    El presente trabajo tiene dos partes diferenciadas: una primera, sobre la investigación entre los nexos o solapamientos que unen la psicomotricidad y la lógico-matemática en educación infantil y, otra fase, es una propuesta de intervención en el aula para desarrollar la lógica-matemática y la psicomotricidad en el tercer curso del segundo ciclo de la Educación Infantil. Además se añaden una serie de conclusiones y reflexiones sobre lo anteriormente señalado. Grado en Educación Infantil...

  11. Estudio sobre las consecuencias del maltrato infantil en el desarrollo del lenguaje

    OpenAIRE

    Moreno Manso, Juan Manuel

    2005-01-01

    Con el estudio sobre las consecuencias del maltrato infantil en el desarrollo del lenguaje, intentamos determinar si los malos tratos a la infancia ocasionan repercusiones en dicha área y si existen repercusiones lingüísticas diferenciales según el tipo de maltrato infantil que sufre el niño. Para ello, analizamos muestras de maltrato infantil tales como el abandono físico, abandono emocional, maltrato físico y maltrato emocional. Reflejamos los resultados de la aplicación de las Escalas McCa...

  12. Factores de riesgo del maltrato y abandono infantil desde una perspectiva multicausal

    OpenAIRE

    González-Muriel López, Cristina

    1996-01-01

    RESUMEN: En este artículo se expone la evolución de los diferentes modelos que han tratado de ofrecer una explicación del maltrato y abandono infantil, modelos que en un principio se basaban en una perspectiva unicausal. Actualmente, el maltrato infantil se encuadra en un marco teórico multicausal; desde este enfoque, se proporciona un análisis de aquellos factores ambientales, familiares e individuales, que se consideran importantes en la explicación del maltrato y abandono infantil intrafam...

  13. El maltrato y el abuso infantil: una propuesta de intervención

    OpenAIRE

    Martín-Jimeno, Arantzazu

    2014-01-01

    El presente trabajo de fin de grado versa sobre el maltrato infantil y el abuso sexual en especial, realizando una propuesta de intervención para su prevención en segundo ciclo de Educación Infantil. En la primera parte se realiza un recorrido teórico por los conceptos más significativos, como la definición, tipología, factores de riesgo y protectores, efectos y situación del maltrato infantil y del abuso sexual en particular. En la segunda parte se presenta una propuesta de in...

  14. Intervención de educación intercultural en educación infantil

    OpenAIRE

    López Pastor, Claudia

    2012-01-01

    Este trabajo abarca el tema de la interculturalidad, y más concretamente la interculturalidad en infantil. Para llevar a cabo esta propuesta he realizado una serie de actividades relacionadas con el juego para que sean trabajadas con los niños y las niñas de educación infantil de cinco y seis años. Todo ello ha sido diseñado basándome en un marco teórico que recoge ideas y conocimientos de diferentes autores. Grado en Educación Infantil

  15. Imaging of malignant infantile osteopetrosis before and after bone marrow transplantation

    Energy Technology Data Exchange (ETDEWEB)

    Cheow, H.K. [Dept. of Paediatric Radiology, Royal Hospital for Sick Children, Bristol (United Kingdom); Dept. of Clinical Radiology, Bristol Royal Infirmary, Bristol (United Kingdom); Steward, C.G. [Dept. of Bone Marrow Transplantation, Royal Hospital for Sick Children, Bristol (United Kingdom); Grier, D.J. [Dept. of Paediatric Radiology, Royal Hospital for Sick Children, Bristol (United Kingdom)

    2001-12-01

    Background: Malignant infantile osteopetrosis (MIOP) is a sclerosing bone disease caused by absence or defective function of osteoclasts. Since these are of haemopoietic origin, the disease can be cured by allogeneic stem-cell transplantation, but there are no detailed studies of radiological follow-up of these procedures. Objective: To investigate the radiological findings at presentation and follow-up in children undergoing bone marrow transplantation (BMT) for MIOP. Materials and methods: Examination of the records and imaging studies of nine paediatric patients undergoing BMT for MIOP during 1988-2000. Results: Presentation findings included characteristic features such as fractures, subperiosteal new bone formation and rachitic appearances. Five children engrafted successfully, allowing assessment of the nature and speed of resolution of radiological features after transplantation. Conclusions: Radiological improvement was apparent within 2 months of successful engraftment with almost complete resolution of abnormalities after 1 year. Studies in two children who are, respectively, 58 and 83 months post-transplant show complete resolution of all bone changes. (orig.)

  16. Perfil de actividad durante el juego en futbolistas infantiles

    Directory of Open Access Journals (Sweden)

    José C. Barbero Álvarez

    2007-12-01

    Full Text Available En fútbol, el patrón de actividad de jugadores adultos, tanto masculinos como femeninos, ha sido ampliamente estudiado, pero son escasos los estudios que han centrado su atención en el análisis de los desplazamientos de los jugadores de categorías infantiles. Un mayor conocimiento de las demandas de este deporte en las etapas iniciales permitiría la confección de programas de entrenamiento más acordes con las características de los chicos de estas edades. El objetivo del presente estudio fue cuantificar de los desplazamientos en jugadores de fútbol de categoría infantil (12,2 ± 0,6 años; 156 ± 0,8 cm y 51 ± 5,2 kg que pertenecían a la selección de la ciudad autónoma de Melilla, mediante la aplicación de dispositivos basados en tecnología GPS. Los resultados obtenidos certifican que el fútbol infantil es una especialidad deportiva intermitente en la que se intercalan actividades de alta intensidad con situaciones del juego que permiten que el jugador recupere estando parado, andando o con una velocidad de carrera muy baja. La tasa trabajo-descanso fue de 1:3,5 y la distancia media recorrida por minuto fue aproximadamente de 100 m. Esta distancia varía disminuyendo de forma lineal conforme transcurre el partido, existiendo diferencias significativas entre el inicio y el final del juego, lo que indicaría la aparición de la fatiga. Los esfuerzos de alta intensidad que se realizan implican el 6,1% del tiempo de juego y el 16,3 % de la distancia recorrida, efectuando un sprint máximo de entre 10 y 15 m de media, cada 141 segundos. La aplicación de tareas que reproduzcan la intensidad del juego durante cortos periodos de tiempo (no superiores a 10 minutos aseguraría una elevada intensidad de trabajo durante los entrenamientos.

  17. Fatores determinantes do crescimento infantil Determinant factors of infant growth

    Directory of Open Access Journals (Sweden)

    Sylvia de Azevedo Mello Romani

    2004-03-01

    Full Text Available Esta revisão enfoca os fatores que interferem no crescimento de crianças nos primeiros anos de vida. Foram utilizadas informações de artigos publicados em revistas científicas, teses e publicações de organizações internacionais. O crescimento infantil se constitui em um dos melhores indicadores de saúde da criança e o retardo estatural representa atualmente, a característica antropométrica mais representativa do quadro epidemiológico da desnutrição no Brasil. Ressaltando a importância do fator genético no crescimento, a revisão abrange com maior ênfase a atuação dos fatores extrínsecos, sabendo-se que o processo de crescimento resulta da interação entre a carga genética e os fatores do meio ambiente, os quais premitirão a maior ou menor expressão do potencial genético. Face a comprovada natureza multicausal do crescimento infantil, vários estudos têm sido desenvolvidos, buscando relacionar variáveis biológicas, socioeconômicas, maternas, ambientais, culturais, demográficas, nutricionais, entre outras, com a sua etiologia, seu desenvolvimento e sua manutenção. A revisão apresentada reforça o interesse em investigações sobre o crescimento na primeira infância que devem ser permanentes, devido, principalmente, às repercussões a longo prazo sobre a saúde infantil.This review focuses on factors interfering with growth during the first years of life. Information was collected from articles published in indexed scientific journals, theses, technical books and publications of international organizations. Infant growth is one of the best health indicators, and linear growth retardation is currently the most representative anthropometric characteristic of child nutrition epidemiology in Brazil. The review indicates the value of genetics in growth, focusing, however on the influence of the extrinsic factors. Growth process results from interaction between genetic and environmental factors, determining variation

  18. de nutrición infantil 2001-2002.

    Directory of Open Access Journals (Sweden)

    Lucía Díez-Gañán

    2007-01-01

    Full Text Available Fundamento: Para conocer la situación alimentaria y nutricional en la población infantil, sobre la que no existía información actualizada, el Instituto de Salud Pública desarrolló la Encuesta de Nutrición Infantil de la Comunidad de Madrid 2001/2002 (ENICM. En este trabajo se analiza la ENICM para describir y evaluar la ingesta de alimentos, energía y nutrientes en esta población. Métodos: Estudio transversal sobre una muestra representativa de la población de 5-12 años de la Comunidad de Madrid. La información alimentaria se recogió en 2001 y 2002 mediante dos recuerdos de 24 horas. Se ha estudiado la ingesta total diaria de alimentos, energía y nutrientes. Los análisis incluyen los 1.852 niños con información completa en los dos recuerdos (90,8% de las entrevistas realizadas. Resultados: La ingesta media total diaria de alimentos es 1.460,7 gramos/persona/día. Salvo para los lácteos, huevos y aceites, la ingesta en los grupos alimentarios básicos es inadecuada, particularmente baja en las frutas frescas, verduras y hortalizas. La ingesta media energética y nutricional resultante es 1.905,9 kcal/persona/día; 43,6% hidratos de carbono; 17,4% proteínas, 39,0% lípidos (13,3% grasas saturadas, 16,8% monoinsaturadas, 5,0% poliinsaturadas; 363,8 mg de colesterol; 13,6 g de fibra e ingestas por debajo de las recomendadas de zinc, ácido fólico, vitaminas D y E (ambos sexos y hierro y vitamina B6 (niñas. Conclusiones: La dieta de la población infantil de la Comunidad de Madrid presenta desequilibrios que es necesario mejorar: ingesta inadecuada de alimentos básicos, exceso de proteínas, grasas saturadas y colesterol y déficit de hidratos de carbono, fibra y algunos micronutrientes.

  19. Mitochondrial disease and endocrine dysfunction.

    Science.gov (United States)

    Chow, Jasmine; Rahman, Joyeeta; Achermann, John C; Dattani, Mehul T; Rahman, Shamima

    2017-02-01

    Mitochondria are critical organelles for endocrine health; steroid hormone biosynthesis occurs in these organelles and they provide energy in the form of ATP for hormone production and trafficking. Mitochondrial diseases are multisystem disorders that feature defective oxidative phosphorylation, and are characterized by enormous clinical, biochemical and genetic heterogeneity. To date, mitochondrial diseases have been found to result from >250 monogenic defects encoded across two genomes: the nuclear genome and the ancient circular mitochondrial genome located within mitochondria themselves. Endocrine dysfunction is often observed in genetic mitochondrial diseases and reflects decreased intracellular production or extracellular secretion of hormones. Diabetes mellitus is the most frequently described endocrine disturbance in patients with inherited mitochondrial diseases, but other endocrine manifestations in these patients can include growth hormone deficiency, hypogonadism, adrenal dysfunction, hypoparathyroidism and thyroid disease. Although mitochondrial endocrine dysfunction frequently occurs in the context of multisystem disease, some mitochondrial disorders are characterized by isolated endocrine involvement. Furthermore, additional monogenic mitochondrial endocrine diseases are anticipated to be revealed by the application of genome-wide next-generation sequencing approaches in the future. Understanding the mitochondrial basis of endocrine disturbance is key to developing innovative therapies for patients with mitochondrial diseases.

  20. Mitochondrial Diseases: Clinical Features- Management of Patients

    Directory of Open Access Journals (Sweden)

    Filiz Koc

    2003-02-01

    Full Text Available Mitochondria are unique organells which their own DNA in cells. Human mitochondrial DNA is circular, double-stranded molecule and small. Because all mitochondria are contributed by the ovum during the formation of the zygote, the mitochondrial genom is transmitted by maternal inheritance. Multisystem disorders such as deafness, cardiomyopathy, miyopathy can be seen in mitochondrial diseases. [Archives Medical Review Journal 2003; 12(0.100: 14-31

  1. Body mass index in male and female children with infantile autism

    DEFF Research Database (Denmark)

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

    2002-01-01

    was to evaluate body mass index (BMI) of children with infantile autism, by comparing the BMI of 117 children with infantile autism with the corresponding BMI percentiles in an age- and sex-matched reference population. The BMI distribution of the male, but not female, children with infantile autism...... was significantly lower than that of the age-matched reference population. There was no evidence that BMI was associated with intelligence or socioeconomic status among children with infantile autism.......Morphometry, the measurement of forms, is an ancient practice. Recently, evidence has grown to support the notion that aberrant neurodevelopment may play a role in the pathophysiology of autism. Is the body, like the brain, affected by abnormal development in these patients? The aim of this study...

  2. Infantile myofibroma of the zygomatoco-maxillo-orbital complex: Case report with spontaneous regression

    Directory of Open Access Journals (Sweden)

    K. Arab

    2016-12-01

    Conclusion: Radiologically aggressive infantile myofibroma has been previously treated by surgical intervention. In this case report there was a significant spontaneous regression. Conservative treatment and follow-up may be an appropriate alternative.

  3. A case of infantile osteopetrosis: The radioclinical features with literature update

    Directory of Open Access Journals (Sweden)

    Tamer Ahmed EL-Sobky

    2016-06-01

    Conclusion: Although tremendous advances have been made in the elucidation of the genetic defect of osteopetrosis over the past years, the role of accurate clinical and radiological assessment remains an important contributor to the diagnosis of infantile osteopetrosis.

  4. Congenital Infantile Fibrosarcoma Causing Intestinal Perforation in a Newborn

    Directory of Open Access Journals (Sweden)

    Margarita Kaiser

    2017-01-01

    Full Text Available Congenital infantile fibrosarcoma (CIF is a rare malignant mesenchymal tumor and only 14 cases have been reported with gastrointestinal manifestation. We report about a female newborn delivered per emergency cesarean section at 34 weeks of gestation. Postnatally, she rapidly developed an acute abdomen and sonographic evidence of intestinal perforation requiring laparotomy on the first day of life. A perforated 2 × 3 cm sized spherical tumorous structure of the jejunum was identified. Due to unknown histopathology at this point and unclear resectional margins, she received a temporary ileostomy, which was closed two months later. Histopathology revealed a congenital intestinal fibrosarcoma without the characteristic ETV6-NTRK3 fusion transcript. In conclusion, this rare tumor must be considered as differential diagnosis of intestinal perforations in newborns.

  5. El Saber profesional de una maestra de infantil

    OpenAIRE

    Orozco Martínez, Susana

    2017-01-01

    Este artículo expone los saberes y práctica profesional de María, maestra de Educación Infantil 3 años de una escuela pública de Cataluña y a cargo 13 niñas y 11 niños. La recolección de datos posibilita profundizar en sus experiencias pedagógicas y en el proceso educativo que pone en marcha y que contribuyen en la creación y desarrollo de una relación educativa caracterizada por la atención a las necesidades individuales y a la singularidad de sus criaturas, desde un acompañamiento, acogimie...

  6. E-learning enables parents to assess an infantile hemangioma.

    Science.gov (United States)

    de Graaf, Marlies; Knol, Mirjam J; Totté, Joan E E; van Os-Medendorp, Harmieke; Breugem, Corstiaan C; Pasmans, Suzanne G M A

    2014-05-01

    Infantile hemangiomas (IH) at risk for complications need to be recognized early. We sought to determine if parents are able to assess, after e-learning, whether their child has an IH, is at risk for complications, and needs to be seen (urgently) by a specialist. This was a prospective study of 158 parents participating in an IH e-learning module. Parents were asked to assess their child's skin abnormality. A dermatologist answered the same questions (by e-consult). The 2 assessments were compared. Parents showed a 96% concordance with the dermatologist for correct diagnosis after e-learning. Concordances were 79%, 75%, and 84% (P e-learning module. E-learning by parents could result in earlier presentation and treatment of high-risk IH. Copyright © 2014 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

  7. El dibujo infantil en el psicodiagnóstico escolar

    Directory of Open Access Journals (Sweden)

    María Teresa GONZÁLEZ MARTÍNEZ

    2009-11-01

    Full Text Available En el estudio y evaluación del comportamiento infantil, tienen un especial interés aquellas formas de conducta llamadas libres o espontáneas. Se les llama así porque a través de ellas el niño se expresa tal como es, sin obstáculos que le impidan la libre manifestación de su personalidad. El dibujo, juntamente con el juego, es, sin duda, una de las formas de expresión en la que las reacciones espontáneas del niño se manifiestan con mayor facilidad, sobre todo en las primeras etapas de la infancia.

  8. Analysis of infantile subdural hematoma caused by abuse

    International Nuclear Information System (INIS)

    Park, Young-Soo; Nishio, Kenji; Fujimoto, Takatoshi; Nakase, Hiroyuki; Okuchi, Kazuo

    2010-01-01

    We report infantile subdural hematoma caused by abuse. Between January 2006 and December 2009, 10 cases of definite and highly suspicious abusive subdural hematoma in infants were treated at Nara Medical University Hospital. The mean age was 5.4 months. On CT examination, severe cerebral swelling was seen in 8 (80%) and wide spreading cerebral ischemia and atrophy in 9 (90%). Retinal hemorrhage was commonly seen in this series (90%). Subdural drainage and/or subdural-peritoneal shunt surgeries were performed in 6 cases, and intensive combined therapy of mild hypothermia and barbiturate was adapted in 7 cases. Favorable outcome was achieved in only 3 cases. In spite of aggressive treatment, clinical outcome are still bad. In our series, assailants were predominantly not father but mother. There were various and complex factors for child abuse. Cautious insight and suspicion are necessary to detect abusive injuries in infants. It is very important to endeavor to prevent recurrences of abusive injuries. (author)

  9. Maltrato infantil: normatividad y psicología forense

    Directory of Open Access Journals (Sweden)

    Gerardo A. Hernández M.

    2010-01-01

    Full Text Available El presente trabajo documental, de carácter pedagógico, está dirigido a profesionales que trabajen con casos de maltrato infantil. Introduce al lector sobre la normatividad y las instituciones que se encargan de la protección y atención al menor maltratado, además de los instrumentos de evaluación psicológica forense utilizados. Se presenta el aporte de la psicología jurídica para probar el daño psicológico. Finalmente, se propone como plan de acción recurrir a mecanismos alternativos, menos punitivos, concretamente a los mecanismos de la justicia restaurativa.

  10. Shaken baby syndrome manifesting as infantile spasms seizure type

    Directory of Open Access Journals (Sweden)

    Der-Shiun Wang

    2014-01-01

    Full Text Available The diagnosis of child maltreatment leading to head injury is challenging. Here, we present the case of a 3-month-old female infant who presented with focal seizures that lasted for several minutes. After admission, she began to show intermittent clusters of head nods, irritable crying, arching, writhing, stiffening, and jerking of both arms. These results and electroencephalography findings were attributed as the diagnosis of infantile spasms (IS. Brain computed tomography and magnetic resonance imaging (MRI revealed the presence of chronic subdural hematoma mixed with acute ischemic injuries. Examination of the eye fundus confirmed the presence of retinal hemorrhage. Therefore, all evidence pointed to a diagnosis of shaken baby syndrome (SBS. Based on this case, we suggest that physicians should consider a diagnosis of SBS for children with new-onset IS and that should be evaluated, diagnosed, and treated as promptly as possible.

  11. Parent-child relationship quality and infantile amnesia in adults.

    Science.gov (United States)

    Peterson, Carole; Nguyen, Duyen T K

    2010-11-01

    The first years of life are typically shrouded by infantile amnesia, but there is enormous variability between adults in how early and how much they can remember from this period. This study examined one possible factor affecting this variability: whether the perceived quality of parent-child relationships is associated with the number of early memories young adults can retrieve, and their age at the time of their first memory. We found such associations but they were qualified by parent gender. Mother-child relationships that were more affectively intense (greater social support but also more negative interchanges) were associated with recalling more early memories, although paternal companionship was most associated with how early an individual's first memory was. Affective tone of retrieved memories was also assessed, and a greater proportion of affectively positive memories (as well as fewer affectively neutral memories for males) was associated with high parental involvement in children's lives.

  12. Tomasello y Stern: Dos perspectivas actuales incluyentes del Desarrollo Infantil

    Directory of Open Access Journals (Sweden)

    Mata Isabel López

    2011-01-01

    Full Text Available El presente artículo tiene como objetivo ilustrar dos perspectivas actuales del desarrollo infantil incluyentes más que excluyentes -Michael Tomasello (cognitivo y Daniel Stern (social-subjetivo-, en cuanto a que integran a su explicación los descubrimientos de las capacidades tempranas del bebé -realizados a partir de 1970/80- y, sin renunciar al paradigma teórico particular del que provienen, reconocen junto a estas competencias tempranas el rol fundamental de los diversos factores intervinientes en el desarrollo -lo innato y lo ambiental (social y cultural-, los diferentes métodos de investigación y las limitaciones de una mirada reduccionista. Además, postulan que se hace necesaria la conversación entre las diferentes perspectivas teóricas, para lograr una descripción del infante como una unidad.

  13. Acute Infantile Encephalopathy Predominantly Affecting The Frontal Lobes (AIEF).

    Science.gov (United States)

    Raha, Sarbani; Udani, Vrajesh

    2012-12-01

    Acute Infantile Encephalopathy Predominantly Affecting the Frontal Lobes (AIEF) is a relatively recent described entity. This article includes case reports of two patients who had bifrontal involvement during acute febrile encephalopathy. Case 1 describes a 1-y-old boy who presented with hyperpyrexia and dialeptic seizures. Imaging revealed significant bilateral frontal lobe involvement while serology proved presence of Influenza B infection. Over a period of one wk, he recovered with significant cognitive decline and perseveratory behavior. Another 6-y-old boy presented with language and behavioral problems suggestive of frontal dysfunction after recovering from prolonged impairment of consciousness following a convulsive status epilepticus. Bilateral superior frontal lesions with gyral swelling was evident on neuroimaging. These cases are among the very few cases of AIEF described in recent literature and the article also reviews this unique subtype of acute encephalopathy.

  14. La TDT: El gran contenedor infantil del futuro

    Directory of Open Access Journals (Sweden)

    María Dolores MORENO RODRÍGUEZ

    2009-08-01

    Full Text Available RESUMEN: Los expertos en edu-comunicación apuestan por la tematización que favorece la proliferación de canales infantiles al amparo de las nuevas frecuencias disponibles a través de la TDT. Reconocen, asimismo, la interactividad como un valor añadido aplicable a la producción televisiva infantil en tanto que elemento clave en la estimulación de la creatividad y recepción participativa por parte del niño. En cambio, los especialistas rechazan los sistemas de control parental por resultar ineficaces y evidenciar la insuficiente implicación de las familias en la educación televisiva de sus hijos. Así lo revela la investigación de la que damos cuenta en este artículo y que ha sido desarrollada mediante la configuración de un panel de treinta expertos que se han pronunciado sobre la TDT, sus nuevos usos y servicios de aplicación en la programación infantil. La obtención de información se ha llevado a cabo mediante la aplicación del Método Delphi lo que ha permitido la aportación deslocalizada y asincrónica de expertos procedentes de distintas áreas geográficas y científicas. Siendo de este modo que hemos reunido la opinión de especialistas en pedagogía, didáctica, periodismo, televisión educativa y televisión infantil, así como de representantes de observatorios audiovisuales, consejos, revistas especializadas, y asociaciones de consumidores.ABSTRACT: Experts in edu-communication are in favour of the thematic specialization that encourages the proliferation of children’s channels under the protection of the new frequencies available through DTTV. They also recognize the interactivity available as a value added applicable to children’s television production as a key element in the stimulation of children’s creativity and participatory reception. However, the specialists reject the systems of parental control because they are ineffective and demonstrate the insufficient involvement of the families in the televised

  15. Vecu de la grossesse et maladies infantiles chez les Mahou de la ...

    African Journals Online (AJOL)

    Il ressort que les femmes mahou de la ville de Bouaké associent les connaissances scientifiques et culturelles pour déterminer l'étiologie des maladies infantiles. Le non-respect des consultations prénatales, la mauvaise alimentation de la mère et l'insuffisance de repos favorisent les maladies infantiles. Dans la culture ...

  16. El manejo de la diabetes en educación infantil

    OpenAIRE

    Espinosa Fernández, Lucía

    2013-01-01

    Los objetivos principales de este trabajo son dar a conocer la diabetes Tipo 1 en la escuela a toda la comunidad educativa e integrar al alumno que padece esta enfermedad en el aula. Por ello, se ha diseña un plan de actuación para que puedan llevarlo a cabo en las aulas de Educación Infantil e implicar alumnos, maestros y padres con esta enfermedad Grado en Educación Infantil

  17. Magnetic resonance imaging findings of solitary infantile myofibromatosis of the skull: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Seung Eun; Cho, Kil Ho; Suh, Jang Ho; Choi, Joon Hyuk [College of Medicine, Yeungnam University, Daegu (Korea, Republic of)

    2016-11-15

    Infantile myofibromatosis is a rare, benign mesenchymal disorder of early childhood characterized by solitary or multiple benign myofibroblastic tumors. The tumors may involve the skin, subcutaneous tissue, muscle, bone and visceral organs. We report magnetic resonance imaging findings of solitary infantile myofibromatosis arising in the temporal bone of a ten-month-old boy, and the diagnosis was confirmed by surgical excision and histopathological examination.

  18. La mortalitá infantile ebraica a Ferrara nell'800

    Directory of Open Access Journals (Sweden)

    C. Adamo

    2003-05-01

    Full Text Available

    Obiettivi: per conoscere la qualità di vita e lo sviluppo di una collettività, tanto per il passato quanto per il presente, si ricorre sempre più spesso agli studi sulla mortalità infantile (I anno di vita. L’obiettivo del lavoro è quello di descrivere la mortalità infantile ottocentesca nella comunità ebraica di Ferrara.

    Metodi: presso l’Archivio Storico del Comune di Ferrara sono conservati i registri di morte dal 1813 al 1902 della popolazione ebraica da cui si sono tratte le seguenti variabili: anno di morte, numero progressivo del registro, cognome e nome del deceduto, sesso, giorno e mese di morte, malattia o causa di morte, età alla morte (mesi, giorni, ore. Il sesso è desunto dal nome del deceduto. Come in precedenti lavori, il nostro gruppo di ricerca, per definire la classificazione delle cause di morte nel primo anno di vita ha utilizzato fino all’anno 1854 un lavoro di Silini G. basato sulle metodologie di studio delle cause di morte nel secolo XIX a Lovere (Bergamo adattandola al diverso contesto storico geografico. Per il periodo successivo si è adottato il criterio classificatorio ISTAT (IX revisione.

    Risultati: dalle prime elaborazioni emerge, per il periodo 1813 1902, il seguente quadro: i morti nel primo anno di vita sono 552, di cui morti nella prima settimana 127 (23%, morti tra la prima settimana ed il primo mese 185 (33,5% ed oltre il primo mese 240 (43,5%. Gli aborti sono risultati complessivamente 194 ed i nati morti 96. Il 51% sono maschi ed il rimanente 49% femmine. Le cause di morte prevalenti sono “materia”, “infiammazione”, “inanizione” ed “epilessia”.

  19. Brechas regionales de la mortalidad infantil en Colombia

    Directory of Open Access Journals (Sweden)

    Marta C Jaramillo-Mejía

    Full Text Available Objetivos. Estudiar las variaciones de la tasa de mortalidad infantil (TMI en los departamentos de Colombia durante el período 2003-2009, examinar la persistencia de las variaciones entre los departamentos sobre el tiempo y relacionarlas con el impacto de las condiciones socioeconómicas y la disponibilidad de servicios de salud, sobre la mortalidad infantil. Materiales y métodos. Utilizando estadísticas vitales y relacionando datos socioeconómicos y de servicios de salud, se analizaron tres aspectos: la variación de la TMI departamental (2003-2009, la relación entre la TMI departamental y determinantes claves en el tiempo, y las líneas de causalidad e impacto relativo de los diferentes factores. Se emplearan ecuaciones estructurales. Resultados. Se encontró una razón de 4,7 entre la mayor y menor TMI departamental (2009, esta podría estar subestimada principalmente por el subregistros en departamentos de bajos ingresos. Hay una relación negativa entre la TMI departamental con el tiempo y variables altamente correlacionadas, como educación de la madre, ingreso per cápita, cobertura de aseguramiento y acceso a servicios. Conclusiones. El efecto del aseguramiento, disponibilidad de camas privadas y atención médica, es superior al impacto de mejores condiciones socioeconómicas sobre la TMI. La oferta de servicios no parece estar influenciada por una política racional, los recursos no se asignan de acuerdo con las necesidades, sino con el desarrollo general. Las camas privadas se hacen disponibles donde hay mejor aseguramiento en salud y menor TMI

  20. Brechas regionales de la mortalidad infantil en Colombia

    Directory of Open Access Journals (Sweden)

    Marta C. Jaramillo-Mejía

    2013-12-01

    Full Text Available Objetivos. Estudiar las variaciones de la tasa de mortalidad infantil (TMI en los departamentos de Colombia durante el período 2003-2009, examinar la persistencia de las variaciones entre los departamentos sobre el tiempo y relacionarlas con el impacto de las condiciones socioeconómicas y la disponibilidad de servicios de salud, sobre la mortalidad infantil. Materiales y métodos. Utilizando estadísticas vitales y relacionando datos socioeconómicos y de servicios de salud, se analizaron tres aspectos: la variación de la TMI departamental (2003-2009, la relación entre la TMI departamental y determinantes claves en el tiempo, y las líneas de causalidad e impacto relativo de los diferentes factores. Se emplearan ecuaciones estructurales. Resultados. Se encontró una razón de 4,7 entre la mayor y menor TMI departamental (2009, esta podría estar subestimada principalmente por el subregistros en departamentos de bajos ingresos. Hay una relación negativa entre la TMI departamental con el tiempo y variables altamente correlacionadas, como educación de la madre, ingreso per cápita, cobertura de aseguramiento y acceso a servicios. Conclusiones. El efecto del aseguramiento, disponibilidad de camas privadas y atención médica, es superior al impacto de mejores condiciones socioeconómicas sobre la TMI. La oferta de servicios no parece estar influenciada por una política racional, los recursos no se asignan de acuerdo con las necesidades, sino con el desarrollo general. Las camas privadas se hacen disponibles donde hay mejor aseguramiento en salud y menor TMI

  1. Maltrato infantil y sus consecuencias a largo plazo

    Directory of Open Access Journals (Sweden)

    Laura Carolina Alarcón Forero

    2010-01-01

    Full Text Available La violencia intrafamiliar constituye una de las formas más frecuentes de violencia encontradas tanto a nivel nacional como internacional y dentro de estas el maltrato infantil presenta cifras alarmantes, y es el objeto de nuestra revisión. Los efectos de este problema repercuten notablemente en aquellos que sobreviven, ya que las consecuencias a largo plazo del maltrato infantil son más perjudiciales para lasvíctimas y sus familias, y más costoso para la sociedad, que las lesiones agudas inmediatas que puedan producir. Las consecuencias a largo plazo para estos niños varían desde efectos nocivos en su desarrollo hasta trastornos psicológicos, psiquiátricos y orgánicos. Es importante resaltar que aún con muy buenas intervenciones no todas tienen el éxito esperado si no se hacen de manera correcta. Esindispensable contar con estrategias de prevención que incluyan personal bien entrenado, una supervisión adecuada, los recursos necesarios, y un tiempo mínimo óptimo para enfrentar el problema y obtener los mejores resultados. ______________________________________________________________________Domestic violence is one of the most common forms of violence found both domestically and internationally. Within these, child abuse has alarming figures. This is the subject of this review. The effects of this problem significantly impact on those who survive; their long-term consequences are most severe and expensive for victimized child and his/her family than associated primary physical injuries. Thelong-term consequences for these children range from adverse effects on its psycholigical development to psychological, psychiatric organic disoders. It is important to note that good speeches are not enough to achieve success if any intervention are not done correctly. All prevention strategies include well-trained staff, appropriate supervision, resources, and a optimal time for addressing this problem to get the best results.

  2. Reflexiones etnográficas sobre el ocio infantil

    Directory of Open Access Journals (Sweden)

    Begoña Leyra Fatou

    2014-06-01

    Full Text Available El presente artículo revisa y amplía parte de los resultados de un estudio realizado sobre el ocio infantil en la Comunidad de Madrid (España (Gaitán, Domínguez, Bárcenas y Leyra, 2011, tratando de analizar el concepto de ocio, como proceso educativo, que de manera transversal enlaza diferentes elementos de la vida cotidiana de niños y niñas. Asimismo, a través de estas páginas se examinarán los diferentes discursos, comportamientos y percepciones que tienen respecto al ocio tanto los niños y niñas como las personas adultas que participaron en la investigación. Se tratará de hacer un recorrido por la propia concepción del ocio infantil así como del tiempo libre, y de los usos y prácticas diferenciadas en distintos grupos de niños y niñas, analizando cómo el ocio forma parte de la educación formal y no formal, llevando consigo elementos transversales de género y edad. Para este estudio se contó con un “grupo junior” de investigación, compuesto por niños y niñas que realizaron reflexiones y aportaciones tanto a lo largo del proceso etnográfico como sobre los resultados obtenidos, fortaleciendo el propio enfoque de “Protagonismo Infantil” y de “Co-investigación de niños y niñas”.

  3. Conocimientos sobre tuberculosis infantil en madres comunitarias de Cartagena, Colombia

    Directory of Open Access Journals (Sweden)

    Jacqueline Hernandez Escolar

    2017-01-01

    Full Text Available Objetivo: Evaluar los conocimientos sobre Tuberculosis (TB Infantil, que tienen las madres comunitarias de Cartagena. Método: Estudio descriptivo realizado con 49 madres comunitarias a las cuales se aplicó una encuesta para evaluar variables sociodemográficas y un cuestionario con 50 preguntas, para medir conocimientos sobre tuberculosis en los niños. Se evaluaron cinco grandes aspectos, (diez preguntas para cada uno así: características de la enfermedad, factores de riesgo, prácticas de prevención, manifestaciones clínicas e identificación de casos, y ruta de atención para los casos sospechosos. Los datos se almacenaron y analizaron en una base de datos del programa SPSSS versión 21, fueron calculadas medidas de frecuencias para las variables categóricas, medidas de tendencia central y desviaciones estándar para variables cuantitativas. Resultado: Del total de participantes, 91,6% (40 desconoce que un individuo con tuberculosis latente puede transmitir la enfermedad; 38,8% (19 no conoce el riesgo que tienen los menores de un año a contagiarse; 22,4% (11 no identifica como factor de riesgo para los niños el contacto estrecho con una persona enferma. Solo el 2% (1 reconoce como signo sugestivo de la enfermedad tuberculosa en los niños la presencia de tos por más de 21 días. Conclusión: Las madres comunitarias de éste estudio tienen poco conocimiento acerca de la TB infantil. Se considera necesario realizar intervenciones educativas a estos actores sociales para que tengan conocimientos amplios sobre este tema.

  4. COMPASIÓN EN LAS PELÍCULAS ANIMADAS INFANTILES

    Directory of Open Access Journals (Sweden)

    María Leticia Flores Palacios

    2011-01-01

    Full Text Available Las películas animadas infantiles pueden contribuir al desarrollo de la capacidad humana de sentir y manifestar emociones, de acuerdo a la postura de Nussbaum (2001a. En este trabajo se analiza la emoción de la compasión en dos películas animadas infantiles de la compañía Disney Pixar: Toy Story de 1995 y Up de 2009. Se enfatiza una postura cognitivaevaluativa sobre las emociones, la cual afirma que la manifestación emocional se basa en creencias o presupuestos que los humanos construyen sobre lo que los rodea. Esta postura admite que las emociones pueden ser aprendidas y por lo tanto es posible pensar que los medios de comunicación participan en este aprendizaje. Para el análisis se identificaron los contenidos donde estuviera presente la compasión y se analizó con la ayuda de un modelo aquí propuesto, que conjunta la secuencia motivadora de Monroe y Enhinger (1969 y los juicios cognitivos de Aristóteles (2002, revisados por Nussbaum (2001a. El análisis de las películas muestra que la compasión se manifiesta en palabras, acciones y expresiones faciales de los personajes. Es posible que el niño espectador aprenda a través de los ejemplos mostrados cuál es la adecuada manifestación de esta emoción y la manera de reaccionar, como por ejemplo brindar palabras de consuelo a quien sufre. Sin embargo es necesario propiciar en los niños una actitud crítica que les permita identificar sesgos o reacciones inadecuadas, de manera que lo observado proporcione elementos valiosos para su relación con los demás y para su propio desarrollo emocional.

  5. Intrauterine nicotine exposure, birth weight, gestational age and the risk of infantile colic

    DEFF Research Database (Denmark)

    Milidou, Ioanna; Søndergaard, Charlotte; Jensen, Morten Søndergaard

    Background and aim: Infantile colic is characterised by crying bouts in a healthy infant during the first months. Smoking in pregnancy and low birth weight (BW) have been previously identified as risk factors for infantile colic. Nicotine acts as a neurotransmitter and is known to affect the intr......Background and aim: Infantile colic is characterised by crying bouts in a healthy infant during the first months. Smoking in pregnancy and low birth weight (BW) have been previously identified as risk factors for infantile colic. Nicotine acts as a neurotransmitter and is known to affect...... the intrauterine central nervous system development, while low BW and premature birth have both been related to adverse neurodevelopmental outcomes. We investigated the association between intrauterine nicotine exposure, BW, gestational age (GA) and infantile colic in a large cohort study. Materials and methods......: We used data from the Danish National Birth Cohort. The study on nicotine exposure included 63,128 infants and the study on BW and GA included 62, 785 infants with complete data. Infantile colic was defined according to the modified Wessel’s criteria based on maternal interview 6 months postpartum...

  6. A clinical study of infantile bronchial asthma by radioallergosorbent test (RAST), 2

    International Nuclear Information System (INIS)

    Nishimuta, Toshiyuki

    1977-01-01

    RAST for house dust, RAST for egg white, and RAST for milk were performed in the serum of 91 cases of infantile bronchial asthma, 25 cases, and 29 cases of infantile allergic diseases picked up at random, respectively. 1) When using reference disc of three different lots, uptake counts of reference sera A, B, C and D showed the following scatters for added counts; A: 28.1-21.4%, B: 12.1-9.7%, C: 4.5-3.0%, and D: 2.8-2.2%. 2) When over 5% of added counts was defined as positive, a consistency of RAST for house dust with P-K test or induction test was 37/42 (88.1%) and 12/14 (85.7%), respectively. 3) When over 3% of added counts was defined as positive, a consistency of RAST for house dust with P-K test or induction test was 39/42 (92.8%) and 14/14 (100%), respectively. This consistency was better than that in positive case with over 5% of added counts. 4) When over 3% of RAST titer was defined as positive, the consistency with the diameter of flush area by intradermal test and in stretching of swelling by scratch test was 59/69 (85.5%) and 23/29 (79.3%), respectively. 5) When over 3% of RAST titer for house dust was defined as positive, cases which showed positive at lower concentration than 1:10,000 of intradermal test threshold was 56/61 (91.8%). 6) The positive in RAST for house dust was not recognized in infants of under 2 years old, but it was recognized in 50% of infants of 2 years old, and it was also recognized with high frequency in infants of over 3 years old. 7) The positive in RAST for egg white and milk was recognized in infants of under 2 years old, and not in infants of over 4 years old. (Tsunoda, M.)

  7. Efecto a corto plazo de la vigabatrina en los espasmos infantiles Short term effect of vigabatrin in infantile spasms

    Directory of Open Access Journals (Sweden)

    Albia J. Pozo Alonso

    2007-03-01

    Full Text Available El objetivo de este trabajo fue valorar el efecto a corto plazo de la vigabatrina en 18 pacientes con el diagnóstico de espasmos infantiles. Trece pacientes fueron tratados en monoterapia, y 6 de ellos de primera intención. La dosis máxima promedio utilizada de vigabatrina fue de 130 mg/ (kg∙día (rango de 75 a 170 mg/ [kg∙día]. Los espasmos epilépticos cesaron en el 44,4 % de los casos a los 18,4 días como promedio tras el inicio del tratamiento con vigabatrina (rango de 3 a 43 días. La dosis promedio de respuesta a la vigabatrina fue de 103 mg/ (kg∙día (rango de 50 a 156 mg/ [kg∙día]. En el 16,7 % de los niños se logró la disminución de las crisis en más del 90 % y en el 5,6 % se redujeron los espasmos epilépticos en más del 50 %. Los espasmos epilépticos persistieron en el 33,3 %. Se obtuvo mejoría electroencefalográfica en el 55,6 % de los casos y en el 5,6 % desaparecieron las descargas. La hipsarritmia desapareció en el 75 % de los pacientes. Se debe continuar empleando la vigabatrina en monoterapia o como terapia adjunta en pacientes con espasmos infantiles.The purpose of this paper was to assess the short term effect of vigabatrin in 18 patients that were diagnosed infantile spasms. Thirteen of them were treated with monotherapy, and six of them were treated of first intention. The average maximum dose of vigabatrin was 130 mg/(kg∙day (range 75-170 mg/[kg∙day]. The epileptic spasms ceased in 44.4 % of the cases at 18.4 days as an average after the beginning of the treatment with vigabatrin (range 3 to 43 days. The average dose of response to vigabatrin was 103 mg/(kg∙day (range 50 to 156 mg/[kg∙day]. In 16.7 % of the children it was possible to reduce the crises more than 90 % , whereas in 5.6 % the epileptic spasms decreased more than 50 %. The epileptic spasms persisted in 33.3 %. An electroencephalographic improvement was observed in 55.6 % of the cases, and in 5.6 % the discharges vanished

  8. Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease

    NARCIS (Netherlands)

    O'Grady, Gina L.; Ma, Alan; Sival, Deborah; Wong, Monica T. Y.; Peduto, Tony; Menezes, Manoj P.; Young, Helen; Waddell, Leigh; Ghaoui, Roula; Needham, Merrilee; Lek, Monkol; North, Kathryn N.; MacArthur, Daniel G.; van Ravenswaaij-Arts, Conny M. A.; Clarke, Nigel F.

    CHD7 variants are a well-established cause of CHARGE syndrome, a disabling multi-system malformation disorder that is often associated with deafness, visual impairment and intellectual disability. Less severe forms of CHD7-related disease are known to exist, but the full spectrum of phenotypes

  9. Pathogenic sequence for dissecting aneurysm formation in a hypomorphic polycystic kidney disease 1 mouse model

    NARCIS (Netherlands)

    Hassane, S.; Claij, N.; Lantinga-van Leeuwen, I.S.; Munsteren, J.C. van; Lent, N. van; Hanemaaijer, R.; Breuning, M.H.; Peters, D.J.M.; Ruiter, M.C. de

    2007-01-01

    OBJECTIVE - Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a multi-system disorder characterized by progressive cyst formation in the kidneys. Serious complications of ADPKD are intracranial and aortic aneurysms. The condition is mainly caused by mutations in the PKD1 or PKD2 gene. We have

  10. Central Nervous System Brucellosis Granuloma and White Matter Disease in Immunocompromised Patient.

    Science.gov (United States)

    Alqwaifly, Mohammed; Al-Ajlan, Fahad S; Al-Hindi, Hindi; Al Semari, Abdulaziz

    2017-06-01

    Brucellosis is a multisystem zoonotic disease. We report an unusual case of neurobrucellosis with seizures in an immunocompromised patient in Saudi Arabia who underwent renal transplantation. Magnetic resonance imaging of the brain showed diffuse white matter lesions. Serum and cerebrospinal fluid were positive for Brucella sp. Granuloma was detected in a brain biopsy specimen.

  11. Infantile osteopetrosis and juvenile xanthogranuloma presenting together in a newborn: a case report and literature review.

    Science.gov (United States)

    Almarzooqi, Saeeda; Reed, Suzanne; Fung, Bonita; Boué, Daniel R; Prasad, Vinay; Pietryga, Daniel

    2011-01-01

    Osteopetrosis (OP) is a clinically and genetically heterogeneous disorder characterized by increased bone density. Associations between OP and other clinical entities are rare but include muscular degeneration, Dandy-Walker syndrome, craniosynostosis, and poikiloderma. Infantile OP has also been diagnosed in a group of infants with neuronal storage disease. An association between OP and juvenile xanthogranuloma (JXG) has never been previously reported. Herein we present a case of an intermediate form of OP in a newborn who presented with hepatosplenomegaly and pancytopenia. Histologic evaluation of a bone marrow biopsy demonstrated abnormally thickened bony trabeculae. A liver biopsy demonstrated prominent expansion of portal areas by a histiocytic infiltrate expressing CD45, CD14, CD68, CD163, factor XIIIa, and fascin, while the biopsy was negative for S100 and CD1a. These findings were those associated with JXG. Genetic testing demonstrated a mutation involving the Pleckstrin homology domain-containing family M member 1 ( PLEKHM1 ) gene. A different mutation in this gene has been previously reported in one other patient with OP. Our case is the 2nd reported case with PLEKHM1 mutation in a patient with a mild form of OP. It also demonstrates the 1st reported occurrence of OP concomitantly with JXG.

  12. Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes.

    Science.gov (United States)

    Pichiecchio, Anna; Rossi, Marta; Cinnante, Claudia; Colafati, Giovanna Stefania; De Icco, Roberto; Parini, Rossella; Menni, Francesca; Furlan, Francesca; Burlina, Alberto; Sacchini, Michele; Donati, Maria Alice; Fecarotta, Simona; Casa, Roberto Della; Deodato, Federica; Taurisano, Roberta; Di Rocco, Maja

    2017-06-01

    The aim of this study was to evaluate the muscle MRI pattern of 9 patients (median age: 6.5 ± 2.74 years) affected by classic infantile-onset Pompe disease who were treated with enzyme replacement therapy. We performed and qualitatively scored T1-weighted (T1-w) sequences of the facial, shoulder girdle, paravertebral, and lower limb muscles and short-tau inversion recovery (STIR) sequences of the lower limbs using the Mercuri and Morrow scales, respectively. On T1-w images, mild (grade 1) or moderate (grade 2) involvement was found in the tongue in 6 of 6 patients and in the adductor magnus muscle in 6 of 9. STIR hyperintensity was detected in all areas examined and was categorized as limited to mild in 5 of 8 patients. On T1-w sequences, mild/moderate adipose substitution in the adductor magnus and tongue muscles was documented. STIR edema-like alterations of thigh and calf muscles are novel findings. Correlations with biopsy findings and clinical parameters are needed to fully understand these findings. Muscle Nerve 55: 841-848, 2017. © 2016 Wiley Periodicals, Inc.

  13. Value of Renal Biopsy in Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus.

    Science.gov (United States)

    Joyce, Emily; Ho, Jacqueline; El-Gharbawy, Areeg; Salgado, Cláudia M; Ranganathan, Sarangarajan; Reyes-Múgica, Miguel

    2017-01-01

    Cystinosis is the most common cause of inherited renal Fanconi syndrome in young children, and typically presents with laboratory findings of a proximal tubulopathy and corneal crystals by one year of age. We describe here renal biopsy findings in a 20-month-old patient with an atypical presentation of distal renal tubular acidosis, diabetes insipidus, and the absence of corneal crystals. Although renal biopsy is usually not necessary to establish the diagnosis of cystinosis, when the patient presents with atypical signs and symptoms, a renal biopsy may be extremely valuable. A 20-month-old boy presented with failure to thrive, polyuria, polydipsia, and rickets. He initially showed evidence of a renal tubular acidosis, mild renal insufficiency, and nephrogenic diabetes insipidus. His initial ophthalmologic examination did not demonstrate corneal crystals. His subsequent workup revealed phosphaturia, suggesting a partial proximal tubulopathy. Concomitantly, a renal biopsy revealed prominent podocytes with an immature glomerular appearance, and electron microscopy analysis showed numerous intracellular crystals within tubular epithelial cells. Subsequent laboratory and genetic testing confirmed a diagnosis of infantile nephropathic cystinosis. This case highlights the variability in the clinical presentation of cystinosis, resulting in an uncommon clinical picture of a rare disease. Given that treatment is available to prolong renal function and minimize the extra-renal manifestations of this disorder, early diagnosis is essential. It is important to raise the index of suspicion of cystinosis by recognizing its subtle morphological changes in young patients, and that nephrogenic diabetes insipidus can be secondary to this disorder.

  14. X-ray examinations for prediction of the so-called infantile scoliosis

    International Nuclear Information System (INIS)

    Schmelzer, J.

    1980-01-01

    The present work contains a comparison of findings on 50 patients with progressive and resolving infantile scoliosis, as far as they are important for prognostication, with the investigations of Metha and other authors. These were the data obtained: 1. Among the 46 cases of 'resolving scoliosis' investigated, 93 per cent showed a difference of the rib-vertebra angles of below 20 degrees. 2. In the four patients with 'progressive scoliosis', a difference of the rib-vertebra angles below the 20-degree limit was seen which is said by Metha to be of unfavourable prognostication. 3. In all of the progressive cases, the rib head on the concave side was found to project into the shadow of the vertex vertebra, which is considered by Metha to be an unfavourable prognostical sign. However, the same position was also seen in 7 out of 46 resolving scolioses. The entire values collected from the 50 patients confirm the characteristics of the disease. (orig./MG) [de

  15. Infection, excretion and seroconversion dynamics of porcine circovirus type 2 (PCV2) in pigs from post-weaning multisystemic wasting syndrome (PMWS) affected farms in Spain and Denmark

    DEFF Research Database (Denmark)

    Grau-Roma, L.; Hjulsager, Charlotte Kristiane; Sibila, M.

    2009-01-01

    Longitudinal case-control studies were performed in post-weaning multisystemic wasting syndrome (PMWS) affected farms from Denmark and Spain using similar designs. Fourteen independent batches of 100-154 pigs per batch were monitored from birth to PMWS outbreak occurrence. Pigs displaying PMWS......-like signs and matched healthy cohorts were euthanized during the clinical outbreak. PMWS was diagnosed according to internationally accepted criteria and pigs were classified as: (i) PMWS cases, (ii) wasted non-PMWS cases and (iii) healthy pigs. Porcine circovirus type 2 (PCV2) quantitative PCR (q...... prevalence and/or viral load than healthy pigs in all collected samples at necropsy (p sampling prior to PMWS outbreak (p

  16. Spatial and temporal patterns of pig herds diagnosed with Postweaning Multisystemic Wasting Syndrome (PMWS) during the first two years of its occurrence in Denmark

    DEFF Research Database (Denmark)

    Vigre, Håkan; Bækbo, P.; Jorsal, Sven Erik Lind

    2005-01-01

    two years after the first herd was diagnosed, and we tested for spatial and spatio-temporal clustering using scan statistics. The study population consisted of pig herds that during the study period (October 2001 - September 2003) performed diagnostic submissions to the two major veterinary diagnostic......The clinical syndrome Postweaning Multisystemic Wasting Syndrome (PMWS) in pigs has emerged globally during the last decade. In October 2001, the first pig herd diagnosed with PMWS was reported in Denmark, and since then the number of herds diagnosed with PMWS has increased markedly. The etiology...... laboratories in Denmark (6724 herds). Of these, 277 herds were diagnosed with PMWS. Two statistically significant spatial clusters of herds diagnosed with PMWS were identified. These clusters included 11% and 8% of the study herds, respectively. Within these two clusters the relative risk for a herd...

  17. Pig major acute-phase protein and haptoglobin serum concentrations correlate with PCV2 viremia and the clinical course of postweaning multisystemic wasting syndrome

    DEFF Research Database (Denmark)

    Grau-Roma, Llorenc; Heegaard, Peter M. H.; Hjulsager, Charlotte Kristiane

    2009-01-01

    -PMWS affected pigs. In addition, evidence of infection with other pathogens and its relation with variations in APP's concentrations was also assessed. Fourteen independent batches of 100 to 154 pigs were monitored from birth to PMWS outbreak occurrence in 11 PMWS affected farms. Pigs displaying PMWS-like signs......The aim of the present longitudinal study was to assess the evolution of two acute phase proteins (APPs), pig-major acute phase protein (pig-MAP) and haptoglobin (HPT), in serum from pigs that developed postweaning multisystemic wasting syndrome (PMWS) in comparison to healthy and wasted non...... and age-matched healthy controls were euthanized during the clinical outbreak. PMWS was diagnosed according to internationally accepted creteria and pigs were classified as: i)PMWS cases, ii) wasted non-PMWS cases and iii) healthy pigs. At the moment of PMWS occurrence, pig-MAP and HPT concentration...

  18. Mottled Mice and Non-Mammalian Models of Menkes Disease

    DEFF Research Database (Denmark)

    Lenartowicz, Małgorzata; Krzeptowski, Wojciech; Lipiński, Paweł

    2015-01-01

    Menkes disease is a multi-systemic copper metabolism disorder caused by mutations in the X-linked ATP7A gene and characterized by progressive neurodegeneration and severe connective tissue defects. The ATP7A protein is a copper (Cu)-transporting ATPase expressed in all tissues and plays a critica......-mammalian models of Menkes disease, Drosophila melanogaster and Danio rerio mutants were used in experiments which would be technically difficult to carry out in mammals....

  19. Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis.

    Science.gov (United States)

    Kielar, Catherine; Maddox, Lucy; Bible, Ellen; Pontikis, Charlie C; Macauley, Shannon L; Griffey, Megan A; Wong, Michael; Sands, Mark S; Cooper, Jonathan D

    2007-01-01

    Infantile neuronal ceroid lipofuscinosis (INCL) is caused by deficiency of the lysosomal enzyme, palmitoyl protein thioesterase 1 (PPT1). We have investigated the onset and progression of pathological changes in Ppt1 deficient mice (Ppt1-/-) and the development of their seizure phenotype. Surprisingly, cortical atrophy and neuron loss occurred only late in disease progression but were preceded by localized astrocytosis within individual thalamic nuclei and the progressive loss of thalamic neurons that relay different sensory modalities to the cortex. This thalamic neuron loss occurred first within the visual system and only subsequently in auditory and somatosensory relay nuclei or the inhibitory reticular thalamic nucleus. The loss of granule neurons and GABAergic interneurons followed in each corresponding cortical region, before the onset of seizure activity. These findings provide novel evidence for successive neuron loss within the thalamus and cortex in Ppt1-/- mice, revealing the thalamus as an important early focus of INCL pathogenesis.

  20. "Dancing on eggs": Charles H. Bynum, racial politics, and the National Foundation for Infantile Paralysis, 1938-1954.

    Science.gov (United States)

    Mawdsley, Stephen E

    2010-01-01

    In 1938, President Franklin D. Roosevelt and his law partner Basil O'Connor formed the National Foundation for Infantile Paralysis (NFIP) to battle the viral disease poliomyelitis. Although the NFIP program was purported to be available for all Americans irrespective of "race, creed, or color," officials encountered numerous difficulties upholding this pledge in a nation divided by race. In 1944, NFIP officials hired educator Charles H. Bynum to head a new department of "Negro Activities." Between 1944 and 1954, Bynum negotiated the NFIP bureaucracy to educate officials and influence their national health policy. As part of the NFIP team, he helped increase interracial fund-raising in the March of Dimes, improve polio treatment for black Americans, and further the civil rights movement.

  1. Porcine circovirus diseases

    Directory of Open Access Journals (Sweden)

    Ristoski Trpe

    2009-05-01

    Full Text Available Porcine circovirus type 2 belongs on the family Circoviridae. This virus family includes small, non-enveloped viruses, with a circular, single-standed DNA genome.This virus causes mainly subclinical infections, but a number of diseases have been linked to it (porcine circovirus diseases, PCVD. The most economically important PCVD is postweaning multisystemic wasting syndrome (PMWS, which mainly affects pigs of 2 to 5 months of age, with progressive wasting, diarrhea and respiratory disorders. Main PMWS lesions are found in lymphoid tissues, which are characterized by lymphocyte depletion with granulomatous (histiocytic and multinucleate giant cell infiltration. PMWS is considered as multifactorial disease, with a number of infectious and non-infectious factors able to act as disease triggering in PCV2 infected pigs. PCVDs are worldwide distributed, and PMWS was diagnosed in Macedonia in 2007.

  2. Preventive Effect of Residential Green Space on Infantile Atopic Dermatitis Associated with Prenatal Air Pollution Exposure.

    Science.gov (United States)

    Lee, Ji-Young; Lamichhane, Dirga Kumar; Lee, Myeongjee; Ye, Shinhee; Kwon, Jung-Hyun; Park, Myung-Sook; Kim, Hwan-Cheol; Leem, Jong-Han; Hong, Yun-Chul; Kim, Yangho; Ha, Mina; Ha, Eunhee

    2018-01-09

    Few birth cohort studies have examined the role of traffic-related air pollution (TRAP) in the development of infantile atopic dermatitis (AD), but none have investigated the role of preventive factors such as green spaces. The aim of this study was to investigate whether exposure to nitrogen dioxide (NO₂) and particulate matter with an aerodynamic diameter of Health study. Subjects were geocoded to their residential addresses and matched with air pollution data modeled using land-use regression. Information on infantile AD was obtained by using a questionnaire administered to the parents or guardians of the children. The association between infantile AD and exposure to NO₂ and PM 10 was determined using logistic regression models. We assessed the effects of residential green spaces using stratified analyses and by entering product terms into the logistic regression models. The risk of infantile AD significantly increased with an increase in air pollution exposure during the first trimester of pregnancy. The adjusted odds ratio (OR) and 95% confidence interval (CI) were 1.219 (1.023-1.452) per 10 μg/m³ increase in PM 10 and 1.353 (1.027-1.782) per 10 ppb increase in NO₂. An increase in the green space within 200 m of residence was associated with a decreased risk of AD (OR = 0.996, 95% CI: 0.993-0.999). The stratified analysis of residential green space revealed stronger associations between infantile AD and PM 10 and NO₂ exposure during the first trimester in the areas in the lower tertiles of green space. This study indicated that exposure to TRAP during the first trimester of pregnancy is associated with infantile AD. Less residential green space may intensify the association between TRAP exposure and infantile AD.

  3. Obesidade infantil: causas e estratégias preventivas

    Directory of Open Access Journals (Sweden)

    Vanessa Margareth Soares

    2015-04-01

    Full Text Available Esta pesquisa teve como objetivo auxiliar a compreensão das causas da obesidade infantil bem como mostrar algumas estratégias simples que podem contribuir na prevenção dessa doença. O caso ‘sobrepeso e obesidade’ é tratado por muitas pessoas sem a devida importância, por entenderem que o mesmo é apenas uma questão estética que não interfere em nada além da saúde física da criança obesa ou sobrepesada, o que é um engano, pois a obesidade e o sobrepeso tem várias causas e uma extensão de problemas, como a hipertensão e o diabetes entre outros, que estão associados direta ou indiretamente a esse mal. A pesquisa foi realizada com crianças de 4 a 5 anos, de uma escola pública e uma privada do município de Sinop - MT, tendo como respaldo metodológico a observação participante utilizando-se de questionários implícitos em diálogos, onde tivemos a oportunidade de compreender alguns aspectos sobre os hábitos alimentares e físicos das mesmas. Os diálogos foram analisados de forma qualitativa, onde munidos do índice de massa corporal, caderno de impressões, podemos constatar que o maior mal que a obesidade causa é o psicológico, pois as crianças sobrepesadas observadas se excluem do convívio social. Aos responsáveis e sociedade em geral cabe a responsabilidade de dar continuidade aos saberes aplicados em sala, estabelecendo hábitos mais saudáveis no ambiente em que vivem.Palavras-chave: educação; educação física e alimentar; obesidade infantil; alunos de 4 e 5 anos.

  4. Obesidad infantil: un nuevo enfoque para su estudio

    Directory of Open Access Journals (Sweden)

    Fabian Leonardo Muñoz Muñoz

    2017-01-01

    Full Text Available La Organización Mundial de la Salud ( OMS ha catalogado la obesidad infantil como la mayor crisis de la salud pública en el mundo. En su informe de 2014 indica que se registraron cuarenta y dos millones de niños menores de 5 años con sobrepeso; de ellos, treinta y cinco millones viven en países en desarrollo. La obesidad infantil es una enfermedad que tiene como origen una cadena causal compleja, de etiología multifactorial, en la que interactúan factores individuales y contextuales; en ellos el niño se encuentra inmerso, y ejercen influencia sobre su comportamiento, en diversos entornos y en diferentes niveles de jerarquía. Esta revisión presenta una descripción de algunos estudios y esfuerzos realizados para carac - terizar, prevenir y controlar la epidemia de obesidad en esta etapa del ciclo vital. Se propone, así mismo, un abordaje para el estudio de la obesidad, denominado ‘Enfoque de sistemas complejos’, el cual permite analizar cómo los factores individuales y contextuales se relacionan, y cómo esa interacción genera nuevas propiedades que no pueden explicarse a partir de los procedimientos habituales de análisis epidemiológico; para ello será necesario el trabajo en equipo, con enfoque multidisciplinario, que incluya médicos, pediatras, nutricionistas, epidemiólogos, salubristas, estadísticos, ingenieros, entre otros profesionales, que aporten sus conocimientos y habilidades, que permitan entender la obesidad como un fenómeno dinámi - co que requiere ser abordado con un enfoque integral e integrador, que trascienda la mirada reduccionista de los factores de riesgo del proceso salud – enfermedad. Solo entonces se podrá mejorar la capacidad para comprender la salud desde una perspectiva clásica hasta un sistema verdaderamente dinámico.

  5. Linfonodo pulmonar na paracoccidioidomicose aguda infantil (relato de um caso

    Directory of Open Access Journals (Sweden)

    Evanil Pires de Campos

    1992-09-01

    Full Text Available Observou-se a evolução de um linfonodo pulmonar na paracoccidioidomicose (PCM aguda infantil. Doente, masculino, 6 anos, branco, natural de Curitiba (PR, procedente de Guaratinguetá (SP, que há 3 meses desenvolveu quadro gripal, febre diária, bimodal, prolongada, precedida de calafrio, acompanhada de sudorese inodora, cefaléia frontal e anorexia. Diagnosticado e tratado como pneumonia por cinco dias, sem melhora do quadro. Há 2 meses, apresentou dor óssea nos braços e articulações do pé, com edema inflamatório e emagrecimento de 6 kg em 3 meses. Exame físico revelou: peso 20 kg; estatura 120 cm; P. A. 90/60 mmHg; facies atípica, hipoativo, palidez cutâneo-mucosa (+ +, hipotrofia muscular, adenopatiageneralizada, sopro sistólico suave em foco aórtico acessório e hepatesplenomegalia. Imunodifusão com exoantígeno glicoprotéico 43 kdpositiva (1/32. A biópsia de gânglio revelou Paracoccidioides brasiliensis. A radiologia demonstrou na primeira consulta, discreto infiltrado intersticial bilateral com linfoadenomegaliapara-hilar que desaparecu em 30 dias. Observou- se, ainda, massa tumoral mediastínica superior, hiperplasia do sistema fagocítico mononuclear e lesões osteolíticas nos 60 dias iniciais da evolução.The primary complex like Ghon was observed in a child's clinical roentgenographic study. C.S., white, male, 6 years old, was born in Curitiba (PR, Brazil and living in Guaratingueta (SP, Brazil, developed "common cold", bimodal diary fever, chills, shake and sweats. Dyspnea, cough with general fymphadenopathy. Foot and right shoulder artralgies. Six months ago visited a cave, equitation practice, dog and cat contacts and notransfusion, frontal sweats, fever (38.4°C. T.A. was 8/6, tachicardia in generalizated fymphadenopathy. Cardiopulmonary system was normal, mesogastric tumoral mass, hepatesplenomegaly and no ascitis. Bone marrow with eosinophilia; nodule demonstred presence of P. brasiliensis; hypoalbuminemia

  6. Monitoramento do desenvolvimento infantil realizado no Brasil La monitoración del desarrollo infantil realizada en Brasil Monitoring of child development held in Brazil

    Directory of Open Access Journals (Sweden)

    Silvio Cesar Zeppone

    2012-12-01

    Full Text Available OBJETIVO: Revisar a literatura científica para verificar como a vigilância do desenvolvimento infantil vem sendo realizada no Brasil. FONTES DE DADOS: Pesquisa em bases de dados (PubMed, Medline, SciELO e Banco de Teses da Coordenação de Aperfeiçoamento de Pessoal de Nível Superior sobre estudos das práticas médicas em relação à vigilância e ao monitoramento do desenvolvimento infantil no Brasil, de 2000 a 2011. Os termos usados para pesquisa foram: vigilância de desenvolvimento infantil, intervenção precoce, triagem de desenvolvimento e testes de triagem de desenvolvimento. Foram encontrados dez textos referentes ao tema em estudo. Artigos originais, de revisão e teses foram revisados, bem como as listas de referências das publicações sobre o assunto. SÍNTESE DOS DADOS: Os estudos sobre a prática do monitoramento do desenvolvimento infantil no Brasil apontam uma importante falha, desde a formação do médico pediatra até a prática clínica, em relação a este tema. CONCLUSÕES: Há necessidade urgente, principalmente frente a uma população emergente de prematuros, que os pediatras façam uma reciclagem do conhecimento sobre o desenvolvimento infantil.OBJETIVO: Revisar la literatura científica para verificar cómo la vigilancia del desarrollo infantil viene siendo realizada en Brasil. FUENTES DE DATOS: Investigación en las bases de datos (Pubmed, Medline, SciELO y Base de Tesis CAPES sobre estudios de las prácticas médicas respecto a la vigilancia y monitoración del desarrollo infantil en Brasil de 2000 a 2011. Los términos usados para la investigación fueron: vigilancia de desarrollo infantil, intervención temprana, screening de desarrollo y pruebas de screening de desarrollo. Se encontraron 10 textos relativos al tema en estudio. Artículos originales, de revisión y tesis fueron revisados, así como las listas de referencias de las publicaciones sobre el tema. SÍNTESIS DE LOS DATOS: Los estudios sobre la pr

  7. Infectious risk factors for individual postweaning multisystemic wasting syndrome (PMWS) development in pigs from affected farms in Spain and Denmark

    DEFF Research Database (Denmark)

    Grau-Roma, Llorenç; Stockmarr, Anders; Kristensen, Charlotte S.

    2012-01-01

    collected serum samples to detect antibodies against, PCV2, porcine reproductive and respiratory syndrome virus (PRRSV), porcine parvovirus (PPV), swine influenza virus (SIV) and Lawsonia intracellularis (law), Mycoplasma hyopneumoniae, Aujeszky’s disease virus (ADV) and Salmonella spp. A Cox proportional...

  8. Ontogeny of memory: An update on 40 years of work on infantile amnesia.

    Science.gov (United States)

    Madsen, Heather Bronwyn; Kim, Jee Hyun

    2016-02-01

    Given the profound influence that early life experiences can have upon psychosocial functioning later in life, it is intriguing that most adults fail to recall autobiographical events from their early childhood years. Infantile amnesia is the term used to describe this phenomenon of accelerated forgetting during infancy, and it is not unique to humans. Over the years, information garnered from animal studies has provided clues as to the neurobiological basis of infantile amnesia. The purpose of this review is to provide a neurobiological update on what we now know about infantile amnesia since the publication of Campbell and Spear's seminal review on the topic more than 40 years ago. We present evidence that infantile amnesia is unlikely to be explained by a unitary theory, with the protracted development of multiple brain regions and neurotransmitter systems important for learning and memory likely to be involved. The recent discovery that exposure to early life stress can alleviate infantile amnesia offers a potential explanation as to how early adversity can so profoundly affect mental health in adulthood, and understanding the neurobiological basis for this early transition may lead to the development of effective therapeutic interventions. Copyright © 2015 Elsevier B.V. All rights reserved.

  9. Hand activities in infantile masturbation: a video analysis of 13 cases.

    Science.gov (United States)

    Hansen, Jonas Kjeldbjerg; Balslev, Thomas

    2009-11-01

    Infantile masturbation is considered a variant of normal behaviour. The abrupt and spontaneous onset, altered sensorium and autonomic phenomena during episodes may suggest an epileptic fit. Therefore, children with infantile masturbation are often admitted to hospital and undergo unnecessary tests. The purpose of the present study was to provide a detailed description of hand activities in infantile masturbation. The authors reviewed video recordings of 2 boys and 11 girls with infantile masturbation. Position, movements and activities of hands and fingers during episodes were registered. Five patterns of hand activities were registered: Fisting (four infants), grasping of toys, furniture or clothing (ten infants), chorea-like "piano playing" hand movements (two infants), pressure over the diaper/genital region (one infant) and bimanual manipulation of items (four infants). Fisting was primarily observed in the younger infants, and bimanual manipulation was primarily seen in the older infants. Recognizing one or more of the five distinct patterns of hand activities in infantile masturbation may help establishing the diagnosis.

  10. Diversidad y educación: el caso del trabajo infantil

    Directory of Open Access Journals (Sweden)

    María Alejandra Silva

    2017-12-01

    Full Text Available Objetivo: conocer los determinantes sociales del trabajo infantil y las políticas para la diversidad en trabajo y educación en Corrientes,  ubicada en el nordeste de Argentina (NEA desde un punto existencial. Método: Se acude al análisis de documentos y estadísticas, además de la consulta a informantes calificados en trabajo y educación. Resultados: El análisis estadístico muestra que las enormes desigualdades regionales persistentes y los problemas de extrema pobreza infantil proporcionan condiciones para que el trabajo infantil aumente. En cuanto a la naturaleza y perfil del trabajo infantil en Corrientes, se observa que hay diversidad de sexo, edad, cultura, tipo de trabajo, duración del día, etc. Conclusiones: El trabajo infantil constituye una flagrante violación de los derechos humanos, que necesita erradicarse a partir de numerosas políticas interministeriales e intersectoriales, siendo necesario políticas de y para la diversidad en educación a fin de incorporar al sistema educativo. Existen informaciones parciales y limitadas, faltando datos oficiales de toda la Provincia, lo que impide pensar en las políticas en y para la diversidad en la escuela que los incluya a través de nuevas metodologías, contenidos, recursos, docentes y gestores proactivos.

  11. Neoadjuvant Chemotherapy for Facilitating Surgical Resection of Infantile Massive Intracranial Immature Teratoma.

    Science.gov (United States)

    Kitahara, Takahiro; Tsuji, Yoshihito; Shirase, Tomoyuki; Yukawa, Hiroyuki; Takeichi, Yasuhiro; Yamazoe, Naohiro

    2016-04-01

    Immature teratoma (IMT) is the most frequent histological subtype of infantile intracranial teratoma, the most common congenital brain tumor. IMT contains incompletely differentiated components resembling fetal tissues. Infantile intracranial IMT has a dismal prognosis, because it is often inoperable due to its massive size and high vascularity. Neoadjuvant chemotherapy has been shown to be effective in decreasing tumor volume and vascularity to facilitate surgical resection in other types of infantile brain tumors. However, only one recent case report described the effectiveness of neoadjuvant chemotherapy for infantile intracranial IMT in the literature, even though it is common entity with a poor prognosis in infants. Here, we describe the case of a 2-month-old male infant with a very large intracranial IMT. Maximal surgical resection was first attempted but was unsuccessful because of severe intraoperative hemorrhage. Neoadjuvant carboplatin and etoposide (CARE) chemotherapy was then administered with the aim of shrinking and devascularizing the tumor. After neoadjuvant chemotherapy, tumor size did not decrease, but intraoperative blood loss significantly decreased and near-total resection was achieved by the second and third surgery. The patient underwent adjuvant CARE chemotherapy and has been alive for 3 years after surgery without tumor regrowth. Even when neoadjuvant chemotherapy does not decrease tumor volume of infantile intracranial IMT, surgical resection should be tried because chemotherapy can facilitate surgical resection and improve clinical outcome by reducing tumor vascularity.

  12. A case of infantile osteopetrosis: The radioclinical features with literature update.

    Science.gov (United States)

    El-Sobky, Tamer Ahmed; Elsobky, Ezzat; Sadek, Ismaiel; Elsayed, Solaf M; Khattab, Mohamed Fawzy

    2016-06-01

    Osteopetrosis is a rare hereditary metabolic bone disorder characterized by generalized skeletal sclerosis caused by a defect in bone resorption and remodelling. Infantile autosomal recessive osteopetrosis is one of three subtypes of osteopetrosis and the most severe form. The correct and early diagnosis of infantile osteopetrosis is important for management of complications and for future genetic counselling. Diagnosis is largely based on clinical and radiographic evaluation, confirmed by gene testing where applicable. Therefore, in this case study the classical clinical and radiological signs of a boy with infantile osteopetrosis will be presented with a comprehensive literature update. The differentiating signs from other causes of hereditary osteosclerosing dysplasias are discussed. This case study and review of available literature show that there tends to be a highly unique clinical and skeletal radiographic pattern of affection in infantile osteopetrosis. Although tremendous advances have been made in the elucidation of the genetic defect of osteopetrosis over the past years, the role of accurate clinical and radiological assessment remains an important contributor to the diagnosis of infantile osteopetrosis.

  13. The controversial role of food allergy in infantile colic: evidence and clinical management.

    Science.gov (United States)

    Nocerino, Rita; Pezzella, Vincenza; Cosenza, Linda; Amoroso, Antonio; Di Scala, Carmen; Amato, Francesco; Iacono, Giuseppe; Canani, Roberto Berni

    2015-03-19

    Food allergies (FAs) are an increasing problem in Western countries, affecting up to 10% of young children. FAs are frequently associated with gastrointestinal manifestations. The role of FAs as a potential causative factor for infantile colic (IC) is still controversial. We report the most recent evidence on the pathogenesis, clinical and diagnostic aspects of FA-induced infantile colic (IC) and suggest a stepwise diagnostic approach. We selected articles on clinical and immunologic features, pathogenesis and management of FAs and IC from of 1981 to 2015. Original and review articles were identified through selective searches performed on PubMed, using the following terms: colic, infantile colic, food allergy and infantile colic, infantile colic treatment. The possible relationship between FAs and IC derives from the presence of dysmotility with visceral hypersensitivity and dysbiosis, demonstrated in both conditions, and the clinical response to dietary interventions. Unfortunately, the design of the studies, poor characterization of atopy and different dietary approaches limit the understanding of the importance of FAs in subjects with IC. The role of FAs in IC subjects without other symptoms of atopy remains controversial. However, where there is a suspicion of FAs, a short trial with an extensively hydrolyzed cow's proteins formula or, if breast fed, with maternal elimination diet may be considered a reasonable option.

  14. Failure to thrive and cognitive development in toddlers with infantile anorexia.

    Science.gov (United States)

    Chatoor, Irene; Surles, Jaclyn; Ganiban, Jody; Beker, Leila; Paez, Laura McWade; Kerzner, Benny

    2004-05-01

    The goal of this study was to examine the relative contributions of growth deficiency and psychosocial factors to cognitive development in toddlers with infantile anorexia. Eighty-eight toddlers, ranging in age from 12 to 33 months, were enrolled in this study. Toddlers were evaluated by 2 child psychiatrists and placed into 1 of 3 groups: infantile anorexia, picky eater, and healthy eater. All 3 groups were matched for age, race, gender, and socioeconomic status (SES). Toddlers underwent nutritional evaluations and cognitive assessments with the Bayley Scales of Infant Development. Toddlers and their mothers were also videotaped during feeding and play interactions, which later were rated independently by 2 observers. On average, toddlers with infantile anorexia performed within the normal range of cognitive development. However, the Mental Developmental Index (MDI) scores of the healthy eater group (MDI = 110) were significantly higher than those of the infantile anorexia (MDI = 99) and picky eater (MDI = 96) groups. Within the infantile anorexia group, correlations between MDI scores and the toddlers' percentage of ideal body weight approached statistical significance (r =.32). Across all groups, the toddlers' MDI scores were associated with the quality of mother-child interactions, SES level, and maternal education level. Collectively, these variables explained 22% of the variance in MDI scores. This study demonstrated that psychosocial factors, such as mother-toddler interactions, maternal education level, and SES level, are related to the cognitive development of toddlers with feeding problems and explain more unique variance in MDI scores than nutritional status.

  15. MR diagnosis of infantile teratoma in sacrococcygeal region

    International Nuclear Information System (INIS)

    Xu Jianchang; Gao Zhiqin; Lou Jianghua

    2009-01-01

    Objective: To discuss the MR manifestations of infantile teratoma in sacrococcygeal region and to evaluate the diagnostic value of MR. Methods: Retrospective analysis was adopted on the MR results of 15 affected infants. Results: The tumors in 2 cases located in hip, which is mainly cystic, circular or ellipse shaped with septum and fat signal can be seen. The wall and septum of the cysts can be reinforced in contrast enhanced imaging. The tumor in 1 case located total in pelvic cavity, presenting cystic and solitary mixed signal. The solitary part, cystic wall and septum can be obviously unequally reinforced in contrast enhanced imaging. In the rest 12 cases, the most parts of tumors located in pelvic cavity and small parts in hip presenting mainly cystic and partly solitary mixed signal. The solitary part, cystic wall and septum can be reinforced in contrast enhanced imaging. Conclusion: MR can accurately display the location and shape of teratoma in sacrococcygeal region and is contribute to diagnose and differentiate benign or malignant lesion, in order to help clinician to choose operation method. (authors)

  16. Linfonodo pulmonar na paracoccidioidomicose aguda infantil (relato de um caso

    Directory of Open Access Journals (Sweden)

    Evanil Pires de Campos

    1992-09-01

    Full Text Available Observou-se a evolução de um linfonodo pulmonar na paracoccidioidomicose (PCM aguda infantil. Doente, masculino, 6 anos, branco, natural de Curitiba (PR, procedente de Guaratinguetá (SP, que há 3 meses desenvolveu quadro gripal, febre diária, bimodal, prolongada, precedida de calafrio, acompanhada de sudorese inodora, cefaléia frontal e anorexia. Diagnosticado e tratado como pneumonia por cinco dias, sem melhora do quadro. Há 2 meses, apresentou dor óssea nos braços e articulações do pé, com edema inflamatório e emagrecimento de 6 kg em 3 meses. Exame físico revelou: peso 20 kg; estatura 120 cm; P. A. 90/60 mmHg; facies atípica, hipoativo, palidez cutâneo-mucosa (+ +, hipotrofia muscular, adenopatiageneralizada, sopro sistólico suave em foco aórtico acessório e hepatesplenomegalia. Imunodifusão com exoantígeno glicoprotéico 43 kdpositiva (1/32. A biópsia de gânglio revelou Paracoccidioides brasiliensis. A radiologia demonstrou na primeira consulta, discreto infiltrado intersticial bilateral com linfoadenomegaliapara-hilar que desaparecu em 30 dias. Observou- se, ainda, massa tumoral mediastínica superior, hiperplasia do sistema fagocítico mononuclear e lesões osteolíticas nos 60 dias iniciais da evolução.

  17. Contribution of Embodiment to Solving the Riddle of Infantile Amnesia

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    Arthur M Glenberg

    2016-01-01

    Full Text Available At least since the late nineteenth century, researchers have sought an explanation for infantile amnesia (IA—the lack of autobiographical memories dating from early childhood—and childhood amnesia (CA, faster forgetting of events up until the age of about seven. Evidence suggests that IA occurs across altricial species, and a number of studies using animal models have converged on the hypothesis that maturation of the hippocampus is an important factor. But why does the hippocampus mature at one time and not another, and how does that maturation relate to memory? Our hypothesis is rooted in theories of embodied cognition, and it provides an explanation both for hippocampal development and the end of IA. Specifically, the onset of locomotion prompts the alignment of hippocampal place cells and grid cells to the environment, which in turn facilitates the ontogeny of long-term episodic memory and the end of IA. That is, because the animal can now reliably discriminate locations, location becomes a stable cue for memories. Furthermore, as the mode of human locomotion shifts from crawling to walking, there is an additional shift in the alignment of the hippocampus that marks the beginning of adult-like episodic memory and the end of CA. Finally, given a reduction in self-locomotion and exploration with aging, the hypothesis suggests a partial explanation for cognitive decline with aging.

  18. Cooperar para competir: narrativas de un entrenador de baloncesto infantil

    Directory of Open Access Journals (Sweden)

    Joan Arumí Prat

    2016-06-01

    Full Text Available La investigación que se presenta en esta tesis narra la experiencia vivida por un entrenador de un equipo de baloncesto de categoría infantil. En el marco conceptual de la tesis se analiza la relación de comunicación establecida entre entrenadores y deportistas en el contexto deportivo y, a la vez, hay un posicionamiento hacia un modelo de entrenador cooperativo. Este modelo de entrenador tiene en consideración la comunicación de sus deportistas y, coherentemente, utiliza estrategias didácticas de aprendizaje cooperativo. Bajo el enfoque constructivista en educación y la perspectiva sociocultural se va construyendo un perfil de entrenador que ve al deportista como un agente activo, que entiende la cooperación como un proceso de comunicación y comprende que el contexto en el que se encuentra es competitivo y, por lo tanto, interesa ganar partidos

  19. Parasitismo intestinal en círculos infantiles

    Directory of Open Access Journals (Sweden)

    Miguel Gómez Vital

    1999-01-01

    Full Text Available Se estudiaron 1 113 niños asistentes a 5 círculos infantiles del municipio de Santa Clara, Villa Clara; con el propósito de analizar la incidencia de parasitismo intestinal. Se les procesaron las muestras de heces fecales mediante 3 métodos coproparasitológicos; demostrándose que el 42,2 % de la muestra estaba parasitada. Las especies más frecuentes fueron la Giardia lamblia, el Enterobius vermicularis y la Entamoeba histolytica, con asociaciones de parásitos en varios casos. Estos son más frecuentes a partir del tercer año de vida. Se resalta la influencia positiva del médico y enfermera de la familia en estas instituciones.1 113 children attending 5 day cae centers in Santa Clara, Villa Clara, were studied aimed at analyzing the incidence of intestinal parasitism. Faeces samples were processed by 3 coproparasitological methods and it was proved that 42.2 % of the samples had parasites. The most frequent species found were Giardia lamblia, enterobius vernmicularis and Entamoeba histolytica with associations of parasites in several cases. These are commoner from the third year of life on. The positive influence of the family physician and nurse in these institutions are stressed.

  20. A estrutura fatorial do Teste de Criatividade Figural Infantil

    Directory of Open Access Journals (Sweden)

    Tatiana de Cássia Nakano

    Full Text Available Com o objetivo de investigar evidências de validade do Teste de Criatividade Figural Infantil, instrumento que visa avaliar 12 características criativas (Fluência, Flexibilidade, Elaboração, Originalidade, Expressão de Emoção, Perspectiva Incomum, Perspectiva Interna, Fantasia, Movimento, Uso de Contexto, Extensão de Limites e Títulos Expressivos, uma análise fatorial foi realizada visando uma melhor compreensão acerca do agrupamento dessas características. Estudantes de 1a a 8a séries do Ensino Fundamental (n=1253, 599F / 654M responderam ao instrumento. A análise fatorial apontou uma estrutura composta por quatro fatores (enriquecimento de idéias, aspectos cognitivos, emotividade e preparação criativa, que foi adotado como modelo de interpretação do instrumento devido à sua consistência com a literatura científica.

  1. Review of the book: Neuropsychology of infantile abandonment and mistreatment

    Directory of Open Access Journals (Sweden)

    Alfonso Barca

    2015-07-01

    Full Text Available Review of: Fernández, R.M. (Coord. (2014. Neuropsychology of infantile abandonment and mistreatment. Barcelona: Hilo Rojo. 207 pp. ISBN: 978-84-941620-7-7. Depósito legal: B 4535-2014. This book deals with an important current topic: the mistreatment and/or abandonment of children who have been adopeted, mostly from abroad. There are 14 chapters and 15 authors.  The central problem revolves around childhood abuse and the authors have focused on a neuro-bio-psychological explanation to understand what happens in the brain of a child who is abused, and, most importantly, their behavior during and after physical or psychological abuse or mistreatment.  Toward the end of the book the main measures that should be taken in this kind of situation are presented.  Generally, the authors cover the essence of the topics brought up and the presentation is always done with extreme scientific rigor and terminological and conceptual precision.

  2. Concepcion del Maltrato Infantil y los Patrones de Crianza

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    Ruth E Caicedo-Fonseca

    2007-12-01

    Full Text Available Existen situaciones y comportamientos de la persona, familia y colectivos, que por diferentes circunstancias pueden propiciar la Violencia Intrafamiliar conllevando al Maltrato Infantil. El que se presenten estos factores predispone a la aparicion del maltrato, pero esto no significa que necesariamente el resultado de tales comportamientos desemboque en violencia contra los miembros del nucleo familiar, pero si es seguro que esas personas son mas vulnerables al problema. Cuando la persona traduce el castigo fisico como practica educativa, la primera consecuencia es la asociacion del amor con la violencia. El niflo aprende que aquel que mas le ama es tambien aquel que le pega y que tiene derecho a hacerlo, paradojica negativa para el futuro de ese niflo/a que lleva una vision generalizada para sus proximas relaciones como la de esposo/a, o padres, o hijo/a. Para evitar llegar a lo anterior se deben usar las costumbres beneficas que se transmiten de generaci6n en generaci6n como parte del patron cultural, que tienen que ver como los padres, crian, cuidan y educan a sus hijos, dependen de lo aprendido, de lo vivido y la influencia cultural que se ejerce en cads una de las generaciones, llamadas pautas o Patrones de Crianza, que en conjunto se convierten en una garantia para los mas vulnerables: los niflos/as.

  3. Oculomotor neurocircuitry, a structural connectivity study of infantile nystagmus syndrome.

    Directory of Open Access Journals (Sweden)

    Nasser H Kashou

    Full Text Available Infantile nystagmus syndrome (INS is one of the leading causes of significant vision loss in children and affects about 1 in 1000 to 6000 births. In the present study, we are the first to investigate the structural pathways of patients and controls using diffusion tensor imaging (DTI. Specifically, three female INS patients from the same family were scanned, two sisters and a mother. Six regions of interest (ROIs were created manually to analyze the number of tracks. Additionally, three ROI masks were analyzed using TBSS (Tract-Based Spatial Statistics. The number of fiber tracks was reduced in INS subjects, compared to normal subjects, by 15.9%, 13.9%, 9.2%, 18.6%, 5.3%, and 2.5% for the pons, cerebellum (right and left, brainstem, cerebrum, and thalamus. Furthermore, TBSS results indicated that the fractional anisotropy (FA values for the patients were lower in the superior ventral aspects of the pons of the brainstem than in those of the controls. We have identified some brain regions that may be actively involved in INS. These novel findings would be beneficial to the neuroimaging clinical and research community as they will give them new direction in further pursuing neurological studies related to oculomotor function and provide a rational approach to studying INS.

  4. The changing epidemiology of infantile hypertrophic pyloric stenosis in Scotland.

    Science.gov (United States)

    Sommerfield, T; Chalmers, J; Youngson, G; Heeley, C; Fleming, M; Thomson, G

    2008-12-01

    The aetiology of infantile hypertrophic pyloric stenosis (IHPS) has not been fully elucidated. Since the 1990s, a sharp decline in IHPS has been reported in various countries. Recent research from Sweden reported a correlation between falling rates of IHPS and of sudden infant death syndrome (SIDS). This was attributed to a reduction in the number of infants sleeping in the prone position following the "Back to Sleep" campaign. To describe the changing epidemiology of IHPS in Scotland, to examine the relationship between IHPS and SIDS rates and to examine trends in other factors that may explain the observed reduction in IHPS incidence. Incidence rates of IHPS and SIDS were derived from routine data and their relationship analysed. Trends in mean maternal age, maternal smoking, mean birth weight and breastfeeding rates were also examined. The whole of Scotland between 1981 and 2004. IHPS incidence fell from 4.4 to 1.4 per 1000 live births in Scotland between 1981 and 2004. Rates were consistently higher in males, although the overall incidence patterns in males and females were similar. Rates showed a positive relationship with deprivation. The fall in the incidence of IHPS preceded the fall in SIDS by 2 years and the incidence of SIDS displayed less variability than that of IHPS. Significant temporal trends were also observed in other maternal and infant characteristics. There has been a marked reduction in Scotland's IHPS incidence, but this is unlikely to be a consequence of a change in infant sleeping position.

  5. Information on infantile colic on the World Wide Web.

    Science.gov (United States)

    Bailey, Shana D; D'Auria, Jennifer P; Haushalter, Jamie P

    2013-01-01

    The purpose of this study was to explore and describe the type and quality of information on infantile colic that a parent might access on the World Wide Web. Two checklists were used to evaluate the quality indicators of 24 Web sites and the colic-specific content. Fifteen health information Web sites met more of the quality parameters than the nine commercial sites. Eight Web sites included information about colic and infant abuse, with six being health information sites. The colic-specific content on 24 Web sites reflected current issues and controversies; however, the completeness of the information in light of current evidence varied among the Web sites. Strategies to avoid complications of parental stress or infant abuse were not commonly found on the Web sites. Pediatric professionals must guide parents to reliable colic resources that also include emotional support and understanding of infant crying. A best evidence guideline for the United States would eliminate confusion and uncertainty about which colic therapies are safe and effective for parents and professionals. Copyright © 2013 National Association of Pediatric Nurse Practitioners. Published by Mosby, Inc. All rights reserved.

  6. PUBLICIDAD INFANTIL EN LAS REDES SOCIALES: TIPOGRAFÍA DIGITAL

    Directory of Open Access Journals (Sweden)

    Jaime Pabón Villamizar

    2014-06-01

    Full Text Available La evolución tecnológica y publicitaria ha producido paralelamente la vinculación infantil en su entorno consumista, debido a que los niños han pasado a ser un target muy apetecido por su vulnerabilidad. Las redes sociales permiten a los medios publicitaros a través de internet humanizar las marcas, creando perfiles en las diversas plataformas de sociabilización digital, ofreciéndole además un valor adicional a los productos, llegando a los niños de forma más directa y personal, con el fin de dejar una “huella mental” para así vincularse de forma estrecha con ellos. Para esto la publicidad crea una nueva estrategia que permite llegar de forma más eficiente a los infantes, perfeccionando la expresión audiovisual y resaltando la tipografía como medio más frecuente en internet y relevante en la compresión del mensaje y así generar publicidades totalmente efectivas creando dependencias de las marcas, no sólo en la actualidad sino a futuro.

  7. Characterization and evolution of dermal filaments from patients with Morgellons disease

    OpenAIRE

    Middelveen, Marianne J; Mayne, Peter J; Kahn, Douglas G; Stricker, Raphael B

    2013-01-01

    Marianne J Middelveen,1 Peter J Mayne,1 Douglas G Kahn,2 Raphael B Stricker11International Lyme and Associated Diseases Society, Bethesda, MD, USA; 2Department of Pathology, Olive View–UCLA Medical Center, Sylmar, CA, USAAbstract: Morgellons disease is an emerging skin disease characterized by formation of dermal filaments associated with multisystemic symptoms and tick-borne illness. Some clinicians hypothesize that these often colorful dermal filaments are textile fibers, either s...

  8. Current Standards of Care and Long Term Outcomes for Thalassemia and Sickle Cell Disease.

    Science.gov (United States)

    Chonat, Satheesh; Quinn, Charles T

    2017-01-01

    Thalassemia and sickle cell disease (SCD) are disorders of hemoglobin that affect millions of people worldwide. The carrier states for these diseases arose as common, balanced polymorphisms during human history because they afforded protection against severe forms of malaria. These complex, multisystem diseases are reviewed here with a focus on current standards of clinical management and recent research findings. The importance of a comprehensive, multidisciplinary and lifelong system of care is also emphasized.

  9. Impacto de la lactancia materna en la vacunación infantil Effect of the breastfeeding on the infant vaccination

    Directory of Open Access Journals (Sweden)

    Deyanira La Rosa Hernández

    2013-03-01

    Full Text Available Dos de los factores más importantes que intervienen en la prevención de enfermedades infecciosas en el menor de un año son: la lactancia materna y la vacunación infantil. En el desarrollo de las respuestas inmunitarias inducidas por vacunas se precisa de un sistema inmunitario competente, en el que la lactancia materna juega un papel esencial como inductor de madurez inmunológica de la etapa posnatal. La lactancia materna exclusiva potencia las respuestas inmunitarias de la mayoría de los inmunógenos vacunales aplicados en los programas de inmunización infantil. Para enriquecer nuestros conocimientos sobre el efecto de la leche humana sobre la vacunación se realizó una revisión bibliográfica tras consultar las bases de datos Google, Medline y el Localizador de Información de Salud de Infomed con la utilización de descriptores como lactancia materna, vacunas, breast-feeding and vaccine.Two of the most important factors in the prevention of diseases in the under one-year old infants are breastfeeding and vaccination. The development of immune responses induced by vaccines requires an effective immune system in which the breastfeeding plays an essential role as an immune maturity inducer in the postnatal phase. Exclusive breastfeeding potentiates the immune responses from most of the vaccinal immunogens included in the infant vaccination programs. With the objective of expanding our knowledge on the effect of breastfeeding on vaccination, a literature review was made by using databases such as Google, Medline and the health information searcher from Infomed and breastfeeding and vaccine as subject headings.

  10. Endocrine disorders in mitochondrial disease.

    Science.gov (United States)

    Schaefer, Andrew M; Walker, Mark; Turnbull, Douglass M; Taylor, Robert W

    2013-10-15

    Endocrine dysfunction in mitochondrial disease is commonplace, but predominantly restricted to disease of the endocrine pancreas resulting in diabetes mellitus. Other endocrine manifestations occur, but are relatively rare by comparison. In mitochondrial disease, neuromuscular symptoms often dominate the clinical phenotype, but it is of paramount importance to appreciate the multi-system nature of the disease, of which endocrine dysfunction may be a part. The numerous phenotypes attributable to pathogenic mutations in both the mitochondrial (mtDNA) and nuclear DNA creates a complex and heterogeneous catalogue of disease which can be difficult to navigate for novices and experts alike. In this article we provide an overview of the endocrine disorders associated with mitochondrial disease, the way in which the underlying mitochondrial disorder influences the clinical presentation, and how these factors influence subsequent management. Copyright © 2013 The Authors. Published by Elsevier Ireland Ltd.. All rights reserved.

  11. Infantile autism in children of immigrant parents. A population-based study from Göteborg, Sweden.

    Science.gov (United States)

    Gillberg, C; Steffenburg, S; Börjesson, B; Andersson, L

    1987-06-01

    A population-based study of infantile autism from western Sweden has been completed. Urban children with autism more often than age-matched children in the general population had immigrant parents from 'exotic' countries. No such trend was seen in rural children with infantile autism.

  12. An overview and update of ATP7A mutations leading to menkes disease and occipital horn syndrome

    DEFF Research Database (Denmark)

    Tümer, Zeynep

    2013-01-01

    Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar "kinky" hair, are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority of...

  13. Disease: H00806 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00806 Benign familial neonatal and infantile epilepsies, including: Benign familial neonatal epilepsy... (BFNE); Benign familial neonatal infantile epilepsy (BFNIE); Benign familial infantile epilepsy... (BFIE) Benign familial neonatal epilepsy (BFNE), benign familial neonatal infantile epilepsy (BFNIE...), and benign familial infantile epilepsy (BFIE) are three benign epilepsy syndro...LE ... Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. ... JOURNAL ... Brain 133:1403-14 (2010) DOI:10.1093/brain/awq057

  14. Early Infantile Leigh-like Gene Defects Have a Poor Prognosis: Report and Review

    Directory of Open Access Journals (Sweden)

    Majid Alfadhel

    2017-10-01

    Full Text Available Solute carrier family 19 (thiamine transporter, member 3 ( SCL19A3 gene defect produces an autosomal recessive neurodegenerative disorder associated with different phenotypes and acronyms. One of the common presentations is early infantile lethal Leigh-like syndrome. We report a case of early infantile Leigh-like SLC19A3 gene defects of patients who died at 4 months of age with no response to a high dose of biotin and thiamine. In addition, we report a novel mutation that was not reported previously. Finally, we review the literature regarding early infantile Leigh-like SLC19A3 gene defects and compare the literature with our patient.

  15. Three solutions to a single problem: alternative casting frames for treating infantile idiopathic scoliosis.

    Science.gov (United States)

    Halanski, Matthew A; Harper, Benjamin L; Cassidy, Jeffry A; Crawford, Haemish A

    2013-07-01

    This is a technique article discussing 3 alternative frames for casting children with infantile scoliosis. To provide surgeons with alternatives to expensive specialized casting tables to allow local treatment of these children utilizing readily available materials present at most institutions. Casting for infantile scoliosis has become more popular as reports have shown promising results with this technique without the morbidity and complications associated with more invasive procedures. However, without a specialized casting table, treating these patients has been limited to a few centers throughout the country often causing patients to travel large distances to receive care. Three different alternatives to commercially available casting frames are presented. Requirements, setup, and techniques are discussed. Each surgeon has had success with each of these frames. These provide adequate support and traction while allowing enough access to the trunk to apply a well-molded cast. Cotrel/Metha casting for infantile scoliosis can be accomplished without a specialized table using commonly available equipment.

  16. CT study of infantile cerebral vitamin B1 deficiency (analysis of 22 cases)

    International Nuclear Information System (INIS)

    Liu Bin; Xi Meifang; Wang Mengding; Wang Chaoxiu

    1998-01-01

    Purpose: To study the CT features of infantile cerebral vitamin B 1 deficiency. Methods: The authors retrospectively reviewed the clinical manifestations and CT findings of 22 cases of infantile vitamin B 1 deficiency. Results: The main clinical signs were seizure malaise dullness and vomiting. CT scans showed bilateral symmetrical hypodense foci in lenticular nucleus (20/22), head of caudate nucleus (15/22), thalamus (3/22), anterior limb of internal capsule (4/22), external capsule (1/22) and para-ventricle white matter (2/22), and in many cases, signs of cerebral atrophy. 22 cases received thiamine treatment and were fully recovered. Conclusion: The authors concluded that bilateral symmetric hypodense foci in lenticular nucleus thalamus, head of caudate nucleus, anterior limb of internal capsule, external capsule and para-ventricle white matter were important CT signs suggestive of infantile cerebral vitamin B 1 deficiency

  17. Infantile sexuality: Its place in the conceptual developments of Anna Freud and Donald W. Winnicott.

    Science.gov (United States)

    Joyce, Angela

    2016-06-01

    This essay explores the place of infantile sexuality in the theories of Anna Freud and Donald W Winnicott. Both Anna Freud and D.W. Winnicott incorporated and at the same time changed the classical psychoanalytic account of infantile sexuality and the instinctual drives. Whilst Anna Freud remained closer to her father's original conceptualization, she developed a multidimensional model of development which gave the drives a foundational status whist also maintaining their significance in giving meaning and texture to children's subjective experience. Winnicott also retained much of S. Freud's original theorizing except that in a fundamental way he turned it on its head when considering earliest development. For him the establishment of the self was paramount, and the drives and infantile sexuality merely served to give substance to that self. Copyright © 2016 Institute of Psychoanalysis.

  18. Pedagogia de Projetos como metodologia no trabalho com a educação infantil

    Directory of Open Access Journals (Sweden)

    Patricia Frageri

    2016-12-01

    Full Text Available Este artigo teve como tema a Pedagogia de Projetos como metodologia no trabalho com a Educação Infantil e a pesquisa foi realizada na escola Gente Feliz de Sinop. A investigação teve como objetivo conhecer em que consiste a metodologia de trabalho pautada na pedagogia de projetos, e suas interfaces, no contexto da educação infantil. Os instrumentos de pesquisa foram entrevista e questionário com duas professoras. Os resultados mostram que a instituição prioriza a metodologia de trabalho por projetos e que as professoras estão familiarizadas com essa metodologia buscando construir junto com as crianças as práticas pedagógicas diárias. Palavra-chave: educação infantil; Pedagogia de Projetos; metodologia de trabalho.

  19. Trabajo infantil, pobreza y desarrollo local en el municipio de Buenaventura. Un estudio de caso

    Directory of Open Access Journals (Sweden)

    Oscar Jehiny Larrahondo Ramos

    2010-01-01

    Full Text Available El presente texto es el resultado del estudio denominado “Trabajo infantil y factores de vulnerabilidad en Buenaventura”, el cual describe y perfila algunas consideraciones sobre el trabajo infantil y su relación con la pobreza y el Desarrollo Local en el municipio de Buenaventura en el año 2010, a partir de cinco espacios de interrelación laboral en los que se presenta la problemática. Aquí, se muestran algunas definiciones conceptuales pertinentes sobre el Trabajo Infantil y la Pobreza, al igual que una serie de hallazgos, al mismo tiempo que un conjunto de recomendaciones o conclusiones al respecto.

  20. Democratic Administration and Family Participation in the Extent of the Infantile Education

    Directory of Open Access Journals (Sweden)

    Bianca Cristina Côrrea

    2007-06-01

    Full Text Available The present work presents reflections concerning democratic administration and family participation in the infantile education that were part of my Dissertation of Master's degree. The main objective of the research was to observe existent practices or potentials of participation of the families in the infantile education. The work incuded as the bibliographical research as field research, this last one accomplished along one year in municipal school of infantile education (EMEI in the city of São Paulo that assists children from 4 to 6 years. The results of the research indicated that, although there was effort on the part of the professionals of the school in accomplishing a quality work to involve the participation of the families, also counted with institutionalized mechanisms of participation and adopted other actions to promote it, it lacked speakers to discuss its practice heading to the wanted objectives.

  1. Mortalidad infantil y migración en Chiapas, México

    Directory of Open Access Journals (Sweden)

    Olga Lidia Lópes-Gonzáles

    2010-01-01

    Full Text Available El objetivo de este trabajo fue analizar, en términos causales, la relación entre mortalidad infantil y migración en cuatro zonas socioeconómicas de la región Soconusco en Chiapas, México. El análisis de este estudio se basó en los resultados de una encuesta socio demográfica y de salud con base poblacional (probabilística que se llevó a cabo en el Soconusco, Chiapas en 1996-97. Se contrastan zonas con distinta condición socioeconómica, cultural y productiva. Se realizó análisis de regresión lineal y logística para identificar el efecto de la migración y la mortalidad infantil, así como de la migración y la zona geográfica sobre la tasa de mortalidad infantil. Los datos muestran que aunque más del 70% de la varianza de la mortalidad infantil se explica por la migración, no existe evidencia de una relación causal concluyente. La relación identificada entre mortalidad infantil, migración y zonas geográficas orientan a una explicación alternativa. Planteamos la hipótesis de que en la región estudiada, la magnitud y características de la emigración, así como de las tasas de mortalidad infantil, son consecuencia de las condiciones de vulnerabilidad económica y social de las poblaciones.

  2. Mortalidad infantil y migración en Chiapas, México

    Directory of Open Access Journals (Sweden)

    Olga Lidia Lópes-Gonzáles

    2010-07-01

    Full Text Available El objetivo de este trabajo fue analizar, en términos causales, la relación entre mortalidad infantil y migración en cuatro zonas socioeconómicas de la región Soconusco en Chiapas, México. El análisis de este estudio se basó en los resultados de una encuesta socio demográfica y de salud con base poblacional (probabilística que se llevó a cabo en el Soconusco, Chiapas en 1996-97. Se contrastan zonas con distinta condición socioeconómica, cultural y productiva. Se realizó análisis de regresión lineal y logística para identificar el efecto de la migración y la mortalidad infantil, así como de la migración y la zona geográfica sobre la tasa de mortalidad infantil. Los datos muestran que aunque más del 70% de la varianza de la mortalidad infantil se explica por la migración, no existe evidencia de una relación causal concluyente. La relación identificada entre mortalidad infantil, migración y zonas geográficas orientan a una explicación alternativa. Planteamos la hipótesis de que en la región estudiada, la magnitud y características de la emigración, así como de las tasas de mortalidad infantil, son consecuencia de las condiciones de vulnerabilidad económica y social de las poblaciones.

  3. Fatores ambientais associados ao sobrepeso infantil Environmental factors associated with childhood overweight

    Directory of Open Access Journals (Sweden)

    Juliana Farias de Novaes

    2009-10-01

    Full Text Available OBJETIVO: Avaliar os fatores ambientais intra-uterinos, perinatais e familiares associados ao sobrepeso infantil, ainda controversos na literatura. MÉTODOS: Estudo transversal realizado com 627 crianças, de 6 a 10 anos, matriculadas em escolas urbanas públicas e privadas do município de Viçosa (MG. O estado nutricional das crianças foi classificado pelo índice de massa corporal, segundo a preconização do Centers for Disease Control and Prevention. Foram aferidas as medidas de peso, estatura, pregas cutâneas tricipital e subescapular, circunferências da cintura e do quadril e pressão arterial das crianças, sendo os fatores ambientais obtidos por meio de questionário, segundo informações maternas. Classificou-se o estado nutricional das mães segundo a recomendação do World Health Organization. RESULTADOS: Do total de crianças, 87,9% eram eutróficas e 12,1% apresentavam sobrepeso. De acordo com a análise de regressão logística múltipla, os fatores associados ao sobrepeso infantil foram apresentar mãe obesa (OR: 6,92; pOBJECTIVE: The objective of this study was to assess intrauterine, perinatal and family factors associated with childhood overweight, which are still controversial in the literature. METHODS: This cross-sectional study included a total of 627 children aged 6 to 10 years, who were enrolled in public and private schools in the city of Viçosa, Minas Gerais State. The nutritional status of the children was classified according to their body mass index, as recommended by the Centers for Disease Control and Prevention. The following data were collected: weight, height, tricipital and subscapular skinfold thicknesses, circumferences of the waist and hip, and blood pressure. The environmental factors were determined by means of a questionnaire, answered by the mother. The nutritional status of the mothers was classified according to the World Health Organization criteria. RESULTS: Out of 627 children, 551 were

  4. La mortalidad infantil y la mortalidad materna en el siglo XXI

    OpenAIRE

    Aguirre, Alejandro

    2009-01-01

    La mortalidad infantil y la mortalidad materna han sido reducidas de manera sustancial en los países desarrollados, por lo cual en esas naciones la mortalidad tiende a concentrarse en las edades avanzadas de las poblaciones. Sin embargo, en países como México no está ocurriendo un avance relevante en la disminución de la mortalidad infantil y materna, pues a pesar de los notables progresos conseguidos en ese sentido durante las décadas recientes, para seguir avanzando se requieren fuertes inv...

  5. ¿Ludistas o convencidos? Una aproximación a la realidad televisiva infantil

    OpenAIRE

    Francés Barceló, María Teresa

    2005-01-01

    Las aproximaciones teóricas a la realidad televisiva infantil siguen mostrando un horizonte desolador, sembrado de alusiones constantes a la violencia, la vacuidad de los mensajes, la pobreza de su lenguaje o la carga ideológica que arrastran consigo los contenidos y, la influencia de todo ello, claro está, en las mentes inmaduras de los más pequeños. Si bien es cierto que el panorama de la programación infantil encuentra en estas apreciaciones parte de su verdad, muchas encierran...

  6. Tratamiento de la psicomotricidad en el segundo ciclo de la educación infantil

    OpenAIRE

    Lasaga Rodríguez, María José; Campos Mesa, María del Carmen; Ries, Francis

    2013-01-01

    Con nuestra investigación pretendemos conocer el tratamiento que recibe la psicomotricidad en el segundo ciclo de la Educación Infantil, desde la opinión de los maestros que se encuentran desarrollando esta profesión. Para ello hemos pasado un cuestionario desde el año 2005 al 2011 a una muestra de 76 sujetos. Tras los resultados obtenidos podemos concluir que los maestros que imparten docencia en el grado de Educación Infantil consideran importante el trabajo de psicomotricidad en sus clase...

  7. El conducto de Serres: alta prevalencia en mandíbulas infantiles

    OpenAIRE

    Hernández Huaripaucar, Edgar; Hernández, Liliana Gisela

    2011-01-01

    Objetivo. Conocer algunas características anátomo-topográficas del conducto de Serres y su prevalencia en mandíbulas infantiles, adultas y seniles. Material y método. La muestra estuvo constituida por 45 mandíbulas infantiles, adultas y seniles que presentaron o no el conducto de Serres, provenientes del anfiteatro de Anatomía de la Facultad de Odontología de la Universidad San Luís Gonzaga de Ica. La hipótesis operativa plantea que las características del conducto de Serres estudiad...

  8. Aproximación al discurso referido en el habla infantil

    OpenAIRE

    María José Gallucci; Yanira Pinto

    2017-01-01

    En aquest treball estudiem l’ús del discurs referit en la parla infantil. Descrivim l’estil directe, l’estil indirecte i les cites onomatopeiques des d’una perspectiva sintacticopragmàtica en una mostra de 28 parlants pertanyents al Corpus de habla infantil (Shiro, 1996) tenint en compte el tipus de cita, els marcs introductors, els verbs més freqüents que emmarquen les cites i l’atribució de la paraula. També indaguem, en funció del tipus de l’entrevista analitzada i de les ta...

  9. Estudio sobre las variables que intervienen en el abandono físico o negligencia infantil

    OpenAIRE

    Moreno Manso, Juan Manuel

    2002-01-01

    La escasez de estudios en materia de abandono físico o negligencia determinan un desconocimiento bastante importante de la tipología de maltrato infantil, considerada hoy por hoy como la de mayor incidencia, tanto a través de estudios nacionales como internacionales. Por ello, a través del análisis de diecinueve variables individuales, sociales, relacionales y familiares, pretendemos aportar un mayor conocimiento sobre una práctica de desprotección infantil con...

  10. Estratificación socioeconómica y salud materno infantil en México

    OpenAIRE

    Carlos Javier Echarri Cánovas

    2004-01-01

    El objetivo del artículo es el estudio de la salud de los niños en México, mediante un análisis que tenga como eje la diferenciación social, la atención a la salud materno infantil y la estructura familiar. Se argumenta la necesidad de prestar mas atención al análisis de los determinantes que de los indicadores de salud, en virtud de las características de información disponible y de los niveles de mortalidad infantil. Un aspecto metodológico importante es que lo...

  11. Determinantes sociais e psicológicos do comportamento alimentar infantil

    OpenAIRE

    Andrade, Maria da Graça Massano de Amorim de Mavigné, 1961-

    2014-01-01

    Tese de doutoramento, Psicologia (Psicologia da Saúde), Universidade de Lisboa, Faculdade de Psicologia, 2014 A redução da taxa de crescimento da obesidade infantil é um dos principais objetivos de saúde, a nível nacional e internacional, o que reforça a importância da aquisição de hábitos alimentares saudáveis nos primeiros anos da infância. Uma vasta evidência empírica aponta para a influência de uma multiplicidade de determinantes do comportamento alimentar infantil, sendo contudo neces...

  12. Instrumentos para avaliação de apraxia de fala infantil

    OpenAIRE

    Gubiani, Marileda Barichello; Pagliarin, Karina Carlesso; Keske-Soares, Marcia

    2015-01-01

    RESUMO Objetivo: Revisar sistematicamente na literatura os principais instrumentos utilizados para avaliação da apraxia de fala infantil. Estratégia de pesquisa: Realizou-se busca nas bases Scopus, PubMed e Embase Critérios de seleção: Foram selecionados estudos empíricos que utilizaram instrumentos de avaliação da apraxia de fala infantil. Análise dos dados: A seleção dos artigos foi realizada por dois pesquisadores independentes. Resultados: Foram encontrados 695 resumos. Após a l...

  13. Programa de prevención del sobrepeso y obesidad infantil en centros educativos de Navarra

    OpenAIRE

    Oses Recalde, Maddi

    2017-01-01

    El objetivo general de este TFM es disminuir la prevalencia de sobrepeso y obesidad infantil en navarra. Todo ello para mejorar la salud en la población infantil y consecuentemente mejorar la salud en su edad adulta. Para ello se identifican los siguientes objetivos específicos: 1) Mejorar los hábitos alimentarios de los participantes del proyecto. 2) Aumentar la actividad física de los participantes. 3) Disminuir el sobrepeso y la obesidad de los participantes del programa. Para la ...

  14. La co-creatividad en las marcas transmedia infantiles desde la perspectiva del productor

    OpenAIRE

    Urbano, Rosalía; Aguaded Gómez, José Ignacio; Bernal-Bravo, César

    2018-01-01

    La creatividad es imprescindible en las producciones transmedia, se sitúa en la base para generar una buena franquicia de entretenimiento infantil. En el estudio se detallan las acciones y competencias del productor en su propio modelo creativo, investigación interpretativa de dos estudios de casos sobre marcas transmedia infantiles de animación. Observaciones, entrevistas y análisis de documentos siguiendo la teoría fundamentada, perfecta para la interpretación de información en el área de c...

  15. La música en los juegos de patio en educación infantil

    OpenAIRE

    Escorial Blázquez, Sandra María

    2012-01-01

    Los cambios socioeconómicos y culturales que hemos vivido en las últimas décadas han afectado a todas las estructuras de la sociedad, cambiando las formas de jugar y divertirse de los niños y niñas de infantil. Trataremos de analizar la situación actual que se desarrolla en el patio de recreo infantil. Centrándonos en la música y el juego, como elementos fundamentales que participan en el desarrollo integral de la persona. El recreo es un espacio-tiempo para jugar libremente y todos los utili...

  16. Ciencias Experimentales en el aula de Educación Infantil

    OpenAIRE

    Zamalloa Echevarría, Teresa

    2013-01-01

    Duración (en horas): Más de 50 horas, Destinatario: Estudiante Mediante la metodología de ABP el alumnado de tercer curso del grado de Educación infantil elaborará propuestas didácticas en grupos para el estudio de los contenidos de ciencias experimentales empleando diferentes estrategias y recursos didácticos para la enseñanza/aprendizaje del medio físico y natural en Educación Infantil.

  17. Presentación Monográfico Educación Infantil

    OpenAIRE

    Fernández Martínez, Pilar; Ríos García, Isabel; Fernández Martínez, María del Pilar; Ramos Xavier, Gelta Terezinha

    2016-01-01

    En este Monográfico de la RIE hemos abordado aspectos teóricos y prácticos en distintos escenarios del quehacer educativo en la Educación Infantil que contribuyen al desarrollo social, afectivo, cognitivo y organizativo. En los trabajos que aparecen en él, de una alta calidad investigadora pero muy arraigados a las aulas y a las realidades cotidianas de la escuela infantil, encontramos un punto de unión bajo el enfoque sociocultural de los procesos de enseñanza y aprendizaje, que establece qu...

  18. Las inteligencias múltiples en Educación Infantil

    OpenAIRE

    Ceballos González, Eric

    2015-01-01

    El objetivo del presente trabajo fin de grado es dar una visión de la posibilidades que nos ofrece las inteligencias múltiples para trabajarlas en la educación infantil. Apoyándose en la base de la las teorías de la inteligencia y los avances de la misma hasta llegar a la teoría de las Inteligencias múltiples. Tomando como mayor representante de dicha teoría a Howard Gadner Grado en Educación Infantil

  19. Pedagogia de Projetos como metodologia no trabalho com a educação infantil

    OpenAIRE

    Patricia Frageri

    2016-01-01

    Este artigo teve como tema a Pedagogia de Projetos como metodologia no trabalho com a Educação Infantil e a pesquisa foi realizada na escola Gente Feliz de Sinop. A investigação teve como objetivo conhecer em que consiste a metodologia de trabalho pautada na pedagogia de projetos, e suas interfaces, no contexto da educação infantil. Os instrumentos de pesquisa foram entrevista e questionário com duas professoras. Os resultados mostram que a instituição prioriza a metodologia de trabalho por p...

  20. Significado cultural dos bens de consumo em um concurso de beleza infantil

    OpenAIRE

    Netto, Carla Freitas Silveira

    2010-01-01

    A presente dissertação tem como objetivo ampliar o conhecimento sobre o significado cultural dos bens de consumo, tendo como objeto o fenômeno dos concursos de beleza infantil e suas candidatas. Primeiramente, descrevo os concursos de beleza (adulto e infantil) expondo as principais discussões já geradas sobre o assunto, a fim de apresentar o contexto da pesquisa. Depois, realizo uma revisão teórica da temática dos significados culturais dos bens de consumo, do modelo de movimentação destes s...