Search results for "Dosis"

Ocular Changes in Patients With Mucopolysaccharidosis I Receiving Enzyme Replacement Therapy

2007

Objective To describe the progression of ocular changes in patients with mucopolysaccharidosis I receiving enzyme replacement therapy. Methods Three male and five female patients with mucopolysaccharidosis I were followed up for 4 years while undergoing enzyme replacement therapy with α-L-iduronidase (Aldurazyme). Visual acuity, corneal clouding, intraocular pressure, ophthalmoscopy, and optic disc measurements were performed yearly. Results Vision remained stable in 5 patients and deteriorated by at least 2 Snellen lines in 3 patients. Deterioration in 2 of these patients was related to progressive corneal clouding. Visual acuities improved in 1 patient after bilateral penetrating keratopl…

Ludwig's angina and ketoacidosis as a first manifestation of diabetes mellitus

2009

Ludwig?s angina is a serious and rapidly progressive infectious process that spreads through the floor of the mouth and neck. In this paper we present an infrequent case of a patient who suffered an odontogenic infection with poor response to the previous treatment, which evolved towards a Ludwig?s angina combined with ketoacidosis in the context of a diabetes mellitus not known before. According to the literature reviewed, this case report represents the first contribution of a Ludwig?s angina and ketoacidosis as an initial manifestation of a diabetes mellitus. The airway management, the antibiotic prescription and the surgical drainage allowed the healing of the patient without medical co…

Comparison of the ventilating and injection bronchoscopes.

1973

Reducing Body Myopathy with Cytoplasmic Bodies and Rigid Spine Syndrome: A Mixed Congenital Myopathy

2001

At the age of five years a male child started to develop a progressive rigid spine, torsion scoliosis, and flexion contractures of his elbows, knees, hips, and ankles owing to severe proximal and distal muscle weakness. He had three muscle biopsies from three different muscles at ages 7, 11, and 14 years, respectively. Myopathologically, these muscle tissues contained numerous inclusions which, at the ultrastructural level, turned out to be reducing bodies and cytoplasmic bodies, often in close spatial proximity. Similar histological inclusions, although not further identified by histochemistry and electron microscopy, were seen in his maternal grandmother's biopsied muscle tissue who had d…

High-frequency oscillatory ventilation and an interventional lung assist device to treat hypoxaemia and hypercapnia

2004

A male patient accidentally aspirated paraffin oil when performing as a fire-eater. Severe acute respiratory distress syndrome ( P a 2 / F 2 ratio 10.7 kPa) developed within 24 h. Conventional pressure-controlled ventilation (PCV) with high airway pressures and low tidal volumes failed to improve oxygenation. Hypercapnia ( P a 2 12 kPa) with severe acidosis (pH<7.20) ensued. Treatment with high-frequency oscillatory ventilation (HFOV) and a higher adjusted airway pressure (35 cm H2O) improved the P a 2 / F 2 ratio within 1 h from 10.7 to 22.9 kPa, but the hypercapnia and acidosis continued. Stepwise reduction of the mean airway pressure (26 cm H2O), and oscillating frequencies (3.5 Hz), as …

Glomerul�re Amyloidose des Menschen ? unter besonderer Ber�cksichtigung der Proteinurie und der Amyloidogenese

1980

Light and electron microscopic investigations were carried out on kidney biopsies in renal amyloidosis cases. Particular attention was paid to the relationships between glomerular amyloidosis and proteinuria.

Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.

2019

Alpha-mannosidosis (AM) is a very rare (prevalence: 1/500000 births) autosomal recessive lysosomal storage disorder. It is characterized by multi-systemic involvement associated with progressive intellectual disability, hearing loss, skeletal anomalies, and coarse facial features. The spectrum is wide, from very severe and lethal to a milder phenotype that usually progresses slowly. AM is caused by a deficiency of lysosomal alpha-mannosidase. A diagnosis can be established by measuring the activity of lysosomal alpha-mannosidase in leucocytes and screening for abnormal urinary excretion of mannose-rich oligosaccharides. Genetic confirmation is obtained with the identification of MAN2B1 muta…

Evaluation of domino liver transplantations in Germany.

2013

Summary A retrospective multicenter study has been conducted to evaluate domino liver transplantations (DLTs) in Germany. The study provides insight into survival and features having an impact on the assessment of neuropathy after DLT. In addition, a neurologic follow-up program with a scheme to estimate the likelihood of de novo amyloidosis is presented. A series of 61 DLTs at seven transplant centers in Germany was enrolled. The mean age of domino recipients at the time of transplantation was 58 years, 46 of them being men, and 15 being women. The median follow-up was 46 months. The overall 1-, 3-, and 5-year survival of domino recipients was 81.6%, 70.8% and 68.8%, respectively. Causes o…

Metabolic Evaluation of 94 Patients 5 to 16 Years After Ileocecal Pouch (Mainz Pouch 1) Continent Urinary Diversion

2003

PURPOSE In continent urinary diversion metabolic disturbances may be encountered in long-term followup. We evaluated metabolic consequences in patients with a minimum followup of 5 years after Mainz pouch 1 urinary diversion.At our institution continent urinary diversion using the ileocecal segment was performed between 1983 and 1995 in 458 patients. A total of 94 patients with an ileocecal pouch for a minimum of 5 years were reevaluated for metabolic changes. Median followup was 9.0 years. Routine laboratory parameters, blood gas analysis, vitamin B12, vitamin D25, cross-laps, bone specific alkaline phosphatase, osteocalcin and propeptide of type I collagen were obtained. Bone density was …

Spontaneous interleukin 2 release of bronchoalveolar lavage cells in sarcoidosis is a codeterminator of prognosis

1996

There is mounting evidence that activated interleukin 2 (IL-2)-releasing lymphocytes play a central role in the immunopathogenesis of sarcoidosis by directing inflammatory reactions and granuloma formation. In the context that a significant proportion of these cells accumulates in the lung and releases mediators, we hypothesized that different immunologically defined stages of sarcoidosis can be identified. A cohort of 89 sarcoidosis patients was allocated to four groups according to the following criteria: stage A, a low number of bronchoalveolar lavage (BAL) lymphocytes (20%) without IL-2 release (1 unit/ml in BAL cell culture supernatant); stage B, BAL lymphocytes20%, with IL-2 release (…