Search results for "Dosis"

Mucopolysaccharidosis Type VII (Sly disease) survivors

2013

treatment. Onset of neurological symptoms at age 8 and in adolescence. Pair 4: L.M. died at age 5 months due to liver failure. P.M. (7 years): earlyinfantile form, despite treatment start at age 2 progressive neurological deterioration. Pair 5: R.K.: late-infantile form, untreated, died at age 9 due to progressive neurological involvement. M.K.: late infantileform, start of treatment at age 5, died at age 13 due to epileptic encephalopathy. These cases reveal that disease onset and progression in siblings with NPC vary, and that miglustat can slow disease progression.

Age at symptom onset, diagnosis, and enzyme replacement therapy (ERT) initiation among family members with mucopolysaccharidosis II (Hunter Syndrome)…

2013

Late-Onset Sarcoidosis in a 77-Year-Old Man

2015

International audience

Academic skills in children with early-onset type 1 diabetes: the effects of diabetes-related risk factors

2012

Aim  The study aimed to assess the effects of diabetes-related risk factors, especially severe hypoglycaemia, on the academic skills of children with early-onset type 1 diabetes mellitus (T1DM). Method  The study comprised 63 children with T1DM (31 females, 32 males; mean age 9y 11mo, SD 4mo) and 92 comparison children without diabetes (40 females, 52 males; mean age 9y 9mo, SD 3mo). Children were included if T1DM had been diagnosed before the age of 5 years and if they were aged between 9 and 10 years at the time of study. Children were not included if their native language was not Finnish and if they had a diagnosed neurological disorder that affected their cognitive development. Among th…

Clinical guidelines for diagnosing and managing ocular manifestations in children with mucopolysaccharidosis.

2011

The mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans in several tissues and organs. This accumulation results in an array of clinical manifestations and premature death in severe cases. Ocular problems are very common in children with MPS and may involve the cornea, sclera, trabecular meshwork, retina, optic nerve and also the posterior visual pathways. The aims of this study are to give an overview of ocular problems in MPS and to provide clinical guidelines for paediatric ophthalmologists for early diagnosis and management of ocular manifestations in children with MPS. Diagnostic problems may arise in child…

Prevalence and Risk of Anisakid Larvae in Fresh Fish Frequently Consumed in Spain: An Overview

2019

Anisakidosis is a fish-borne zoonosis caused by parasitic nematodes of the family Anisakidae, of which the species belonging to Anisakis simplex complex are the most representative. It is considered an emerging disease in Spain. The objective of this study is to analyse the presence of larvae in fish frequently consumed in Spanish supermarkets, inferring the risk of infection. In total 1,786 specimens of 9 different fish species, from two geographical origins (Atlantic and Mediterranean), acquired fresh and not eviscerated were examined for anisakid nematodes. Analysis showed that 33.7% of the samples were parasitized by Anisakis larvae. The horse mackerel (Trachurus trachurus) presented th…

ALTERED RATIO BETWEEN AXON CALIBER AND MYELIN THICKNESS IN SURAL NERVES OF CHILDREN

1978

ABSTRACT Maturation of myelin sheaths in normal sural nerves of children proceeds more slowly than axon growth. This asynchronous development of axons and myelin sheaths results in a statistically significant change of the ratio between axon caliber and myelin thickness during normal development. Therefore, myelin thickness of individual nerve fibers must be related to the size of the axons as well as to the age of the individuals studied. Abnormalities of the relationship between myelin thickness and axon diameter (primary hypomyelination of large, or small, or all fibers) were clearly identified in cases with metachromatic leukodystrophy, KRABBE's, DEJERINE-SOTTAS’, COCKAYNE'S and SANFILI…

Estimation of the effect of the acidosis and alkalosis on the anesthetic potency of local anesthetics by biopartitioning micellar chromatography and …

2004

Local anesthetics are hydrophobic compounds and weak bases with protonation constants ranged between 7.5 and 8.8. These drugs block reversibly nerve conduction near their site of application or injection and thus produce temporary loss of feeling or sensation in a limited area of the body. The efficacy of anesthetic blockade of local anesthetics depends on the charged/uncharged form ratio and the hydrophobicity of the compounds. In addition their toxicological effects have been reported to be highly dependent on the physiological pH. Biopartitioning micellar chromatography (BMC) and micellar electrokinetic chromatography (MEKC), that use micellar solutions as mobile phases, have proven to b…

A Phase III Extension Study of Aldurazyme®(Laronidase) in Mucopolysaccharidosis I

2007

Die renale S�ure- und Ammonium-Ionen-Ausscheidung normaler und adrenalektomierter Ratten und ihre Beeinflussung durch Nebennierenrindenhormone

1959

The renal excretion of acid and ammonium ions after an oral load of monosodium-phosphate (1.2 mEq. per rat) was studied in groups of adrenalectomized er sham-operated rats, maintained on 0.9 per cent NaCI solution and water, on the 6th or 12th day after operation. Untreated groups were compared to groups receiving either Corticotropin (25 U./kg./day s.c.) or Cortisone acetate (12.5 mg./kg./day s.c.) er (7.5 mg./kg./day s.c.) or D,L-Aldosterone acetate Cortexone acetate (0.15 mg./kg./day s.c.) from the 3rd to the 12th day after opetarion. In sham-operated rats Cortisone increased H+ excretion and diuresis on the 6th day after operation (3rd day of treatment). This influence did not persist o…