Ultrastructure and Peroxidase of Leucocytes in Five Patients with Juvenile form of Ceroid Lipofuscinoses

1976 ◽  
pp. 413-427 ◽  
Author(s):  
M. Daria Haust ◽  
Bruce A. Gordon ◽  
George G. Hinton
Keyword(s):  
Juvenile Form

Jansky-Bielschowsky syndrome, a lysosomal disease: First diagnosed cash in Oman

1992 ◽  
Vol 50 (1) ◽  
pp. 632-633
Author(s):  
Line Buhl ◽  
David Muirhead
Keyword(s):  
Mental Retardation ◽  
Clinical Picture ◽  
Neurological Disorder ◽  
Clinical Presentation ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Infantile Form ◽  
Lysosomal Disease ◽  
Juvenile Form ◽  
Progressive Encephalopathy ◽  
Lysosomal Diseases

There are four lysosomal diseases of which the neuronal ceroid lipofuscinosis is the rarest. The clinical presentation and their characteric abnormal ultrastructure subdivide them into four types. These are known as the Infantile form (Santavuori-Haltia), Late infantile form (Jansky-Bielschowsky), Juvenile form (Batten-Spielmeyer-Voght) and the Adult form (Kuph's).An 8 year old Omani girl presented wth myclonic jerks since the age of 4 years, with progressive encephalopathy, mental retardation, ataxia and loss of vision. An ophthalmoscopy was performed followed by rectal suction biopsies (fig. 1). A previous sibling had died of an undiagnosed neurological disorder with a similar clinical picture.

STUDIES IN CONGENITAL GENERALIZED LIPODYSTROPHY (SEIP-BERARDINELLI SYNDROME)

1973 ◽  
Vol 72 (3) ◽  
pp. 475-494 ◽  
Author(s):  
Svein Oseid
Keyword(s):  
Insulin Resistance ◽  
Glucose Tolerance ◽  
Normal Glucose Tolerance ◽  
Juvenile Form ◽  
Congenital Generalized Lipodystrophy ◽  
Glucose Levels ◽  
Normal Glucose ◽  
Glucose Tolerance Tests ◽  
The One ◽  
Adipose Organ

ABSTRACT Six cases of congenital generalized lipodystrophy have been studied at different ages from infancy to adolescence with regard to glucose tolerance, insulin secretion, and insulin sensitivity. During the first few years of life there is normal glucose tolerance. The fasting immuno-reactive insulin (IRI) levels are either slightly elevated or normal. The IRI response to glucose is exaggerated and prolonged, at least from the third year of life. Some degree of insulin resistance is already present in infancy. From the age of 8–10 years glucose tolerance decreases rapidly. The fasting IRI levels are usually grossly elevated, while fasting plasma glucose levels are only moderately elevated or normal. The IRI responses to oral and iv administered glucose, and to tolbutamide are exaggerated; the insulinogenic indices are high. Cortisone primed glucose tolerance tests become abnormal. Insulin resistance is marked, and increases with age. After cessation of growth at approximately 12 years of age, frank diabetes with fasting hyperglycaemia and diabetic glucose tolerance curves developed in the one patient followed beyond this age. Her fasting IRI was increased, but there was a poor IRI response to glucose stimulation, suggesting a partial exhaustion of the β-cells. Her initial IRI response to tolbutamide was still good, but not as brisk as in the younger patients. This type of diabetes is quite different from the juvenile form, and also from the diabetes of older age. It may be causally related to the lack of an adequate adipose organ necessary for the disposal of excesses of glucose, or possibly related to another anti-insulin mechanism.

scholarly journals A case of juvenile form Pompe's disease manifested as chronic alveolar hypoventilation

1993 ◽  
Vol 8 (3) ◽  
pp. 221 ◽  
Author(s):  
Dong Gyu Kim ◽  
Kisuck Jung ◽  
Myung Koo Lee ◽  
In Gyu Hyun ◽  
Hwa Jung Lim ◽  
...  
Keyword(s):  
Juvenile Form ◽  
Pompe’S Disease ◽  
Pompe's Disease ◽  
Alveolar Hypoventilation

scholarly journals Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project

2020 ◽  
Vol 28 (12) ◽  
pp. 1763-1768
Author(s):  
Thomas Bourinaris ◽  
◽  
Damian Smedley ◽  
Valentina Cipriani ◽  
Isabella Sheikh ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
De Novo ◽  
Age At Onset ◽  
Genetic Diagnosis ◽  
Spastic Paraplegia ◽  
Sequencing Data ◽  
Juvenile Form ◽  
Pathogenic Variants ◽  
Degenerative Disorders ◽  
Significant Gene

AbstractHereditary spastic paraplegia (HSP) is a group of heterogeneous inherited degenerative disorders characterized by lower limb spasticity. Fifty percent of HSP patients remain yet genetically undiagnosed. The 100,000 Genomes Project (100KGP) is a large UK-wide initiative to provide genetic diagnosis to previously undiagnosed patients and families with rare conditions. Over 400 HSP families were recruited to the 100KGP. In order to obtain genetic diagnoses, gene-based burden testing was carried out for rare, predicted pathogenic variants using candidate variants from the Exomiser analysis of the genome sequencing data. A significant gene-disease association was identified for UBAP1 and HSP. Three protein truncating variants were identified in 13 patients from 7 families. All patients presented with juvenile form of pure HSP, with median age at onset 10 years, showing autosomal dominant inheritance or de novo occurrence. Additional clinical features included parkinsonism and learning difficulties, but their association with UBAP1 needs to be established.

Juvenile form of spongy degeneration of the CNS

1969 ◽  
Vol 13 (3) ◽  
pp. 276-281 ◽  
Author(s):  
K. Jellinger ◽  
F. Seitelberger
Keyword(s):  
Juvenile Form ◽  
Spongy Degeneration

Congenital hypothyroidism in a Turkish family: the role of immunoglobulins blocking the trophic effects of TSH and maternal-foetal relationship

1986 ◽  
Vol 111 (1) ◽  
pp. 44-53 ◽  
Author(s):  
R. D. van der Gaag ◽  
H. Frisch ◽  
M. Weissel ◽  
G. Wick ◽  
H. A. Drexhage
Keyword(s):  
Congenital Hypothyroidism ◽  
Thyroid Autoimmunity ◽  
Thyroid Tissue ◽  
Mild Form ◽  
Juvenile Form ◽  
Turkish Family ◽  
Blocking Antibodies ◽  
Thyroid Microsomal Antibodies ◽  
Trophic Action

Abstract. A Turkish family with frequent intermarriages is described, in which two siblings were born with persistent forms of congenital hypothyroidism, in the elder child concomitant with absent radioactive thyroid imaging. The mother was clinically euthyroid throughout the period of observation, but showed in addition to thyroid microsomal antibodies, high levels of immunoglobulins blocking the trophic action of TSH. These maternal growth blocking antibodies were transiently present in the youngest of the siblings (from birth to 2 months of age). She had a relatively mild form of congenital hypothyroidism (T3: 33 μg/100 ml; T4: 3.9 μg/100 ml). The older sibling, with proven non-functioning thyroid tissue (negative thyroidscan, T4: 0.4 μg/100 ml) produced the growth-blocking immunoglobulins herself and may thus represent a juvenile form of thyroid autoimmunity with a very early onset. An aunt and uncle of the children, both hypothyroid since birth, were at the age of 19 and 18 years weakly positive for growth blocking immunoglobulins. This study indicates that familial forms of congenital hypothyroidism are probably complex and may be brought about by maternal to foetal passage of thyroid reactive autoantibodies, but also by the inheritance of a trait for thyroid autoimmunity. In some cases these two mechanisms might act in conjunction.

Leptocephalus energetics: metabolism and excretion

1999 ◽  
Vol 202 (18) ◽  
pp. 2485-2493
Author(s):  
R.E. Bishop ◽  
J.J. Torres
Keyword(s):  
Metabolic Rate ◽  
Energy Budget ◽  
Citrate Synthase ◽  
Sea Water ◽  
Negative Slope ◽  
Ion Pump ◽  
Metabolic Rates ◽  
Energy Reserves ◽  
Developmental Strategy ◽  
Juvenile Form

Leptocephali are the unusual transparent larvae that are typical of eels, bonefish, tarpon and ladyfish. Unlike the larvae of all other fishes, leptocephali may remain in the plankton as larvae for several months before metamorphosing into the juvenile form. During their planktonic phase, leptocephali accumulate energy reserves in the form of glycosaminoglycans, which are then expended to fuel metamorphosis. The leptocephalus developmental strategy is thus fundamentally different from that exhibited in all other fishes in two respects: it is far longer in duration and energy reserves are accumulated. It was anticipated that the unusual character of leptocephalus development would be reflected in the energy budget of the larva. This study describes the allocation of energy to metabolism and excretion, two important elements of the energy budget. Metabolic rates were measured directly in four species of leptocephali, Paraconger caudilimbatus, Ariosoma balearicum, Gymnothorax saxicola and Ophichthus gomesii, using sealed-jar respirometry at sea. Direct measurements of metabolic rates were corroborated by measuring activities of lactate dehydrogenase and citrate synthase, two key enzymes of intermediary metabolism, in addition to that of Na(+)/K(+)-ATPase, a ubiquitous ion pump important in osmotic regulation. Excretion rates were determined by subsampling the sea water used in the respiratory incubations. The entire premetamorphic size range for each species was used in all assays. Mass-specific oxygen consumption rate, excretion rate and all enzyme activities (y) declined precipitously with increasing mass (M) according to the equation y=aM(b), where a is a species-specific constant and −1.74<b<-0.44. In leptocephali, the highly negative slope of the familiar allometric equation describing the relationship between mass-specific metabolic rate and mass, normally between −0.33 and 0, showed that a massive decline in metabolic rate occurs with increasing size. The result suggests that the proportion of actively metabolizing tissue also declines with size, being replaced in large measure by the metabolically inert energy depot, the glycosaminoglycans. Leptocephali can thus grow to a large size with minimal metabolic penalty, which is an unusual and successful developmental strategy.

Congenital Juvenile Chronic Myelogenous Leukemia: Case Report and Review

PEDIATRICS ◽  
1984 ◽  
Vol 73 (3) ◽  
pp. 324-326
Author(s):  
Reese H. Clark ◽  
Leslie L. Taylor ◽  
Robert J. Wells
Keyword(s):  
Bone Marrow ◽  
Case Report ◽  
Chronic Myelogenous Leukemia ◽  
Peripheral Blood ◽  
Blast Crisis ◽  
Myelogenous Leukemia ◽  
Juvenile Form

The case of a patient with ecchymosis, hepatomegaly, leukocytosis, thrombocytopenia, and anemia at birth is presented. Throughout his course, thrombocytopenia, anemia, and leukocytosis without a marked increase in the number of blast forms in either peripheral blood or bone marrow persisted until the patient developed a blast crisis shortly before his death at age 4 months. This patient is the youngest reported to have the juvenile form of chronic myelogenous leukemia and the first that in the present era can be considered congenital in origin.

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