Hearing loss in Pompe disease revisited: results from a study of 24 children.

Little information is available regarding the auditory function in Pompe patients. Hearing loss has been reported in classic infantile patients, but it is still unknown whether central nervous system involvement interferes with auditory function and whether enzyme replacement therapy can improve hearing. Auditory function has not been studied in children with milder forms of the disease.

The potential of five winter-grown crops to reduce root-knot nematode damage and increase yield of tomato.

Broccoli (Brassica oleracea), carrot (Daucus carota), marigold (Tagetes patula), nematode-resistant tomato (Solanum lycopersicum), and strawberry (Fragaria ananassa) were grown for three years during the winter in a root-knot nematode (Meloidogyne incognita) infested field in Southern California. Each year in the spring, the tops of all crops were shredded and incorporated in the soil. Amendment with poultry litter was included as a sub-treatment.

A randomized study of alglucosidase alfa in late-onset Pompe's disease.

Background: Pompe's disease is a metabolic myopathy caused by a deficiency of acid alpha glucosidase (GAA), an enzyme that degrades lysosomal glycogen. Late-onset Pompe's disease is characterized by progressive muscle weakness and loss of respiratory function, leading to early death. We conducted a randomized, placebo-controlled trial of alglucosidase alfa, a recombinant human GAA, for the treatment of late-onset Pompe's disease.

Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype.

Pompe disease (acid alpha-glucosidase deficiency) is a lysosomal glycogen storage disorder characterized in its most severe early-onset form by rapidly progressive muscle weakness and mortality within the first year of life due to cardiac and respiratory failure. Enzyme replacement therapy prolongs the life of affected infants and supports the condition of older children and adults but entails lifelong treatment and can be counteracted by immune responses to the recombinant enzyme. We have explored the potential of lentiviral vector-mediated expression of human acid alpha-glucosidase in hematopoietic stem cells (HSCs) in a Pompe mouse model.

Patient and procedure-related risk factors for adverse events after infrainguinal bypass.

Background: Current medical practice urges individual health care facilities and medical professionals to obtain and provide detailed insight in quality of care with the possibility of comparing data between institutions. Adverse event (AE) analysis serves as a mainstay in quality assessment in vascular surgery, but the comparison of AE data between facilities can be complex. The aim of the present study was to assess independent risk factors for AE occurrence: patient, disease and operation characteristics besides general differences between health care facilities.

Fatigue in neuromuscular disorders: focus on Guillain-Barré syndrome and Pompe disease.

Fatigue accounts for an important part of the burden experienced by patients with neuromuscular disorders. Substantial high prevalence rates of fatigue are reported in a wide range of neuromuscular disorders, such as Guillain-Barré syndrome and Pompe disease. Fatigue can be subdivided into experienced fatigue and physiological fatigue.

PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease.

Screening of blood films for the presence of periodic acid-Schiff (PAS)-positive lymphocyte vacuoles is sometimes used to support the diagnosis of Pompe disease, but the actual diagnostic value is still unknown. We collected peripheral blood films from 65 untreated Pompe patients and 51 controls. Lymphocyte vacuolization was quantified using three methods: percentage vacuolated lymphocytes, percentage PAS-positive lymphocytes, and a PAS score depending on staining intensity.

Dried blood spot analysis: an easy and reliable tool to monitor the biochemical effect of hematopoietic stem cell transplantation in hurler syndrome patients.

Hurler syndrome (HS), the most severe phenotype in the spectrum of mucopolysaccharidosis type I, is caused by a deficiency of the lysosomal enzyme alpha-L-iduronidase (IDUA). At present, hematopoietic stem cell transplantation (HSCT) is the only treatment able to prevent disease progression in the central nervous system, and therefore considered the treatment of choice in HS patients. Because IDUA enzyme activities after HSCT have been suggested to influence the prognosis of HS patients, monitoring these activities after HSCT remains highly important.

Enzymatic and molecular strategies to diagnose Pompe disease.

Enzyme replacement therapy for Pompe disease, a neuromuscular disorder characterized by lysosomal glycogen storage due to acid α-glucosidase deficiency, has entered the clinic. There is more than ever a need for early and reliable diagnosis. The objective of this review is to present a critical review of the recent literature on laboratory procedures to diagnose Pompe disease by enzymatic assay and DNA analysis.

Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease.

In a previous 52-wk trial, treatment with alglucosidase alpha markedly improved cardiomyopathy, ventilatory function, and overall survival among 18 children <7 mo old with infantile-onset Pompe disease. Sixteen of the 18 patients enrolled in an extension study, where they continued to receive alglucosidase alpha at either 20 mg/kg biweekly (n = 8) or 40 mg/kg biweekly (n = 8), for up to a total of 3 y. These children continued to exhibit the benefits of alglucosidase alpha at the age of 36 mo.

Patient- and procedure-specific risk factors for postoperative complications in peripheral vascular surgery.

Background: Interest in measuring the quality of surgical care has grown over the past decades. As complications after vascular surgery may be used as a quality indicator of care, analysis of these adverse events remains essential.

Objective: The goal of this study was to identify patient and procedure specific risk factors of postoperative complications following infrainguinal vascular surgery and to describe the incidence, cause and consequence of all complications in this group.

Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease.

To determine the rate of disease progression in patients with late-onset Pompe disease, we collected longitudinal data on pulmonary function and skeletal muscle strength in 16 patients whose symptoms had started in childhood or adulthood. The mean duration of follow-up was 16 years (range 4-29 years). During the follow-up period, eight patients (50%) became wheelchair bound and three (19%) became ventilator dependent.

Pompe's disease.

Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative names for the same metabolic disorder. It is a pan-ethnic autosomal recessive trait characterised by acid alpha-glucosidase deficiency leading to lysosomal glycogen storage. Pompe's disease is also regarded as a muscular disorder, but the generalised storage of glycogen causes more than mobility and respiratory problems.

Wound complications at the groin after peripheral arterial surgery sparing the lymphatic tissue: a double-blind randomized clinical trial.

Background: The groin incision after arterial reconstructive surgery is most likely at risk for infectious or lymphatic wound complications. Theoretically; sparing lymphatic tissue by a lateral approach to the femoral artery should minimize these. The aim of this study was to assess the incidence of wound complications after the lateral versus the direct approach of the common femoral artery.

Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities.

Background And Objective: Pompe disease is an inherited metabolic disorder caused by deficiency of acid alpha-glucosidase. All affected neonates have a severe hypertrophic cardiomyopathy, leading to cardiac failure and death within the first year of life. We investigated the presence and extent of cardiac involvement in children and adults with Pompe disease with the common c.

Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease.

Pompe disease (type 2 glycogenosis, acid maltase deficiency) is a disorder affecting skeletal and cardiac muscle, caused by deficiency of acid alpha-glucosidase. In 2006 enzyme therapy with recombinant human alpha-glucosidase received marketing approval based on studies in infants. Results in older children and adults are awaited.

Cardiac involvement in adults with Pompe disease.

Background: Glycogen storage disease type II or Pompe disease is a neuromuscular disorder caused by deficiency of lysosomal acid alpha- glucosidase. Classic infantile Pompe disease results in massive left ventricular (LV) hypertrophy and failure. Although Pompe disease is often included in the differential diagnosis of LV hypertrophy the true frequency of cardiac involvement in adults with Pompe disease is not known.

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

We discuss four cases of acid alpha-glucosidase deficiency (EC, 3.2.1.

The incidence of unplanned returns to the operating room after peripheral arterial bypass surgery and its value as indicator of quality of care.

Background: In recent years, a growing need has arisen to define possible indicators of quality of care.

Methods: To examine whether unplanned return to the operating room within 30 days after the initial procedure could serve as an indicator to assess quality of care in peripheral arterial bypass surgery, all bypass procedures performed between January 1996 and January 2004 were evaluated. Data were obtained from a prospectively kept hospital registration system.

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy.

Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare X-linked recessive disease caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase, leading to progressive accumulation of glycosaminoglycans in nearly all cell types, tissues and organs. Clinical manifestations include severe airway obstruction, skeletal deformities, cardiomyopathy and, in most patients, neurological decline. Death usually occurs in the second decade of life, although some patients with less severe disease have survived into their fifth or sixth decade.

Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease.

Muscle weakness is the main symptom of Pompe disease, a lysosomal storage disorder for which major clinical benefits of enzyme replacement therapy (ERT) have been documented recently. Restoration of skeletal muscle function is a challenging goal. Type 2 muscle fibers of mice with Pompe disease have proven resistant to therapy.

Home treatment with enzyme replacement therapy for mucopolysaccharidosis type I is feasible and safe.

Objective: Intravenous enzyme replacement therapy (ERT) with recombinant alpha-L-iduronidase may ameliorate the non-neurological symptoms in patients with mucopolysaccharidosis type I (MPS I). Since home-based ERT for Gaucher and Fabry diseases has been reported to be safe and successful, we investigated the feasibility and safety of home therapy in patients with MPS I.

Setting: This two-centre study included 17 ERT-treated MPS I patients between 1 and 35 years of age.

Symplastic connection is required for bud outgrowth following dormancy in potato (Solanum tuberosum L.) tubers.

To gain greater insight into the mechanism of dormancy release in the potato tuber, an investigation into physiological and biochemical changes in tuber and bud tissues during the transition from bud dormancy (immediately after harvest) to active bud growth was undertaken. Within the tuber, a rapid shift from storage metabolism (starch synthesis) to reserve mobilization within days of detachment from the mother plant suggested transition from sink to source. Over the same period, a shift in the pattern of [U-(14)C]sucrose uptake by tuber discs from diffuse to punctate accumulation was consistent with a transition from phloem unloading to phloem loading within the tuber parenchyma.

Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase).

Objective: Our objective was to evaluate the safety, pharmacokinetics, and efficacy of laronidase in young, severely affected children with mucopolysaccharidosis I.

Methods: This was a prospective, open-label, multinational study of 20 patients who had mucopolysaccharidosis I and were <5 years old (16 with Hurler syndrome, 4 with Hurler-Scheie syndrome) and were scheduled to receive intravenous laronidase at 100 U/kg (0.58 mg/kg) weekly for 52 weeks.

Nosocomial infections after peripheral arterial bypass surgery.

Background: Hospital-acquired infections account for a substantial increase in morbidity and mortality. This prospective, single-center observational study was conducted to assess the incidence and analyze the risk factors of nosocomial infection after peripheral arterial bypass surgery.

Methods: The incidence of nosocomial infections was registered in all patients undergoing peripheral arterial bypass surgery from January 1996 until December 2004, and risk factors for the development of a nosocomial infection were analyzed.