glycogen storage disease/hypoxia

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Pulmonary interstitial glycogenosis associated with a spectrum of neonatal pulmonary disorders.

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Primary or isolated pulmonary interstitial glycogenosis (PIG) is a rare disease presenting as tachypnea and hypoxemia during the perinatal period. A diffuse interstitial infiltrate with focal hyperinflation is visible on chest imaging. The biopsy findings include diffuse expansion of the

An infant with pulmonary interstitial glycogenosis: clinical improvement is associated with improvement in the pulmonary diffusion capacity.

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Pulmonary interstitial glycogenosis (PIG) is an idiopathic interstitial lung disease of infants. The underlying pulmonary pathophysiology of PIG has not been well characterized. Herein we report a term-gestation infant who presented with persistent tachypnea and hypoxia. A chest CT scan demonstrated

Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: A long-term follow-up study.

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Pulmonary interstitial glycogenosis (PIG) is a rare infant interstitial lung disease characterized by an increase in the number of interstitial mesenchymal cells, presenting as enhanced cytoplasmic glycogen, and is considered to represent the expression of an underlying lung

Phosphofructo-1-kinase deficiency leads to a severe cardiac and hematological disorder in addition to skeletal muscle glycogenosis.

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Mutations in the gene for muscle phosphofructo-1-kinase (PFKM), a key regulatory enzyme of glycolysis, cause Type VII glycogen storage disease (GSDVII). Clinical manifestations of the disease span from the severe infantile form, leading to death during childhood, to the classical form, which

Pulmonary interstitial glycogenosis: a new variant of neonatal interstitial lung disease.

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We present the clinical, radiologic, and pathologic findings in lung biopsies from seven infants with atypical neonatal lung disease. All seven infants presented with tachypnea, hypoxemia, and diffuse interstitial infiltrates with overinflated lungs on chest radiographs in the first month of life.

[Pulmonary hypertension due to glycogen storage disease type II (Pompe's disease): a case report].

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A rare case of pulmonary hypertension due to glycogen storage disease type II (Pompe's disease) was reported. An 18-year-old girl was admitted to Kawasaki Medical School Hospital because of cyanosis, dyspnea on exertion and amenorrhea. She was 149 cm in height and 29 kg in body weight. Clinical

Gene expression profiling in equine polysaccharide storage myopathy revealed inflammation, glycogenesis inhibition, hypoxia and mitochondrial dysfunctions.

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BACKGROUND Several cases of myopathies have been observed in the horse Norman Cob breed. Muscle histology examinations revealed that some families suffer from a polysaccharide storage myopathy (PSSM). It is assumed that a gene expression signature related to PSSM should be observed at the

Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib.

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Glycogen storage disease type Ib (GSD-Ib) is an autosomal-recessive syndrome characterized by neutropenia and impaired glucose homeostasis resulting from a deficiency in the glucose-6-phosphate (G6P) transporter (G6PT). The underlying cause of GSD-Ib neutropenia is an enhanced neutrophil apoptosis,

[Mechanical ventilation in neuromuscular diseases: do not start too early, but certainly not too late].

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Three patients had chronic respiratory disorders: a 42-year-old man with glycogenosis type II was tired, had headaches, poor pulmonary function values and, according to the arterial blood gas values, hypercapnia; a man aged 24 with Duchenne's muscular dystrophy had variable moderate dyspnoea with

[Lysosomes and apoptosis].

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In 1955, Christian de Duve and his coworkers from the School of Medicine in Louvain, Belgium, named a group of cytoplasmic formations surrounded by lipoprotein membrane and containing acid hydrolase enzymes as lysosomes. Biochemical and cytochemical studies showed lysosomes to be found in animal and

Lactic acidosis in childhood.

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Children with chronic metabolic acidosis should be investigated to determine the presence of an organic acid, especially when the plasma electrolyte profile shows a deficiency of anion. One of the organic acids that should be looked for in such a patient is lactic acid. Lactic acidosis due to tissue

Comorbidity and metabolic context are crucial factors determining neurological sequelae of hypoglycaemia.

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OBJECTIVE To determine risk factors for neurological sequelae following hypoglycemia. METHODS We analysed the neurological outcome in 164 patients (mean age 10y 10mo, SD 5.9) following hypoglycemia due to three diseases with various metabolic contexts, different ages at onset, and combinations with

AMPK beta subunit targets metabolic stress sensing to glycogen.

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AMP-activated protein kinase (AMPK) is a multisubstrate enzyme activated by increases in AMP during metabolic stress caused by exercise, hypoxia, lack of cell nutrients, as well as hormones, including adiponectin and leptin. Furthermore, metformin and rosiglitazone, frontline drugs used for the

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Herbal & Natural Medicine

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