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PubMed1975

[X-Ray and clinical study of the nose, sinuses and maxilla in patients with severe iron deficiency disease (author's transl)].

A definite relation between ozaena and iron deficiency disease could not be verified. However, the examination of 88 patients with severe iron deficiency disease, mostly of juvenile age, revealed that X-ray pictures of the nose and the paranasal sinuses showed abnormal alterations indicating the existence of a non-inflammatory process. There were few symptoms from the nose and the neighbouring structures as well as insignificant clinical findings by inspection of these structures. The increased opacity of the maxillary sinuses on the roentgenograms and some other changes are considered to be partially due to the insufficient pneumatisation which is related to the retarded development and maturation of juvenile patients with iron deficiency disease. Furthermore, it is caused by the enlargement and thickening of the facial bones resulting from the expansive growth of the hyperplastic and hypertrophic red marrow filling completely the cancelous substance. The space of the maxillary sinuses is narrowed in many cases, the penetration power of the X-ray diminished and the clearing effect of the air containing cavities decreased.

Adolescent↗
PubMed1998

Identification of a familial mutation associated with GABA-transaminase deficiency disease.

GABA-transaminase (GABA-T) deficiency disease is a rare recessive disorder characterized by abnormal development, seizures, and high levels of GABA in serum and cerebrospinal fluid. Although some patients are the offspring of consanguineous marriages, most are not. To identify the molecular basis of this disease, we have determined the sequence of human GABA-T cDNA. We have compared the GABA-T cDNA sequences in cultured cells derived from six healthy controls with those from a GABA-T-deficient patient and both parents. Our data indicate that GABA-T deficiency disease may result from an allele that encodes an R220K substitution.

4-Aminobutyrate Transaminase↗
PubMed1978

Inheritance of the enzyme defect in a new hexosaminidase deficiency disease.

A new form of hexosaminidase deficiency disease is characterized clinically by mild, juvenile-onset, very slowly progressive cerebellar ataxia with macular cherry-red spots and absence of other findings. Biochemically there is striking hexosaminidase deficiency in serum, leukocytes, and fibroblasts. Hexosaminidase B appears absent, but hexosaminidase A-like and S-like activity is present on starch-gel electrophoresis. We studied hexosaminidase in leukocytes and serum from members of an affected patient's family and traced the enzyme defect through four generations. Leukocyte heat-stabile hexosaminidase in obligate and presumptive carriers was depressed both in specific activity (nanomoles per milligram of protein per hour) and as a percentage of total hexosaminidase. The carrier state was expressed in serum, but overlap with controls made this test unreliable. The similarity of these carriers to carriers of Sandhoff disease suggests that the disorders may be closely related, perhaps as allelic mutations of the hexosaminidase beta subunit. Those involve with screening for Tay-Sachs disease should be aware that persons with an increased percentage of hexosaminidase A--that is, a decreased heat-stabile fraction--may be carriers of hexosaminidase deficiency diseases.

Chemical Phenomena↗
PubMed1993

The epidemiology of iodine-deficiency diseases in China.

Iodine-deficiency diseases (IDDs) are wide-spread in China, distributed mainly in the inland and mountainous regions. About one-third of the total Chinese population lives in IDD-endemic areas. The severity of IDD is related to the severity of iodine deficiency. All the selenium-deficient areas of China are also IDD-endemic areas; however, IDD can be very severe in areas where selenium status is thought to be adequate. The distribution of myxedematous cretinism in China is not related to selenium deficiency. In the Tarim Basin, the selenium status of the population is normal and myxedematous cretinism is prevalent. In the northeastern regions of China, selenium deficiency is common and neurological cretinism is very rare.

Cardiomyopathies↗
PubMed1979

Bone marrow transplantation for correction of enzyme deficiency disease.

Mutant acatalasemic mice provide a prototype of congenital enzyme deficiency disease. Normal blood catalase levels were achieved permanently in congenitally acatalasemic mice by transplantation of bone marrow cells from congeneic normal catalasemic mice using relatively small numbers of cells following whole body irradiation. The increase in blood catalase activity was physiologically effective as demonstrated by the protection of the previously acatalasemic mice against the otherwise lethal effects of hydrogen peroxide injections. Bone marrow transplantation has the potential to provide a continuous source of some enzymes and may be applicable as treatment for certain congenital enzyme deficiency diseases.

Acatalasia↗
PubMed1986

Hepatocyte transplantation for enzyme deficiency disease in congenic rats.

Long-term effects of hepatocyte transplantation (HTX) in the treatment of enzyme deficiency disease were studied. Congenic enzyme-deficient (R/APfd-j/j) and non-enzyme-deficient (R/APfd) rats were used as recipients and donors, respectively. The R/APfd-j/j rat strain is congenitally deficient of bilirubin uridyldiphosphate (UDP)-glucuronyl transferase. R/APfd-j/j rats underwent HTX by intrasplenic injection of 10(7) isolated R/APfd hepatocytes (group 1A). Another group of R/APfd-j/j rats was treated similarly, but underwent splenectomy after 11 weeks (group 1B). Controls consisted of R/APfd-j/j rats grafted with 10(7) R/APfd-j/j hepatocytes (group 2), and R/APfd-j/j rats that underwent a sham operation (group 3). Total plasma bilirubin (TB) levels were significantly reduced in groups 1A and 1B during the experiment (both P less than 0.01). In the control groups TB reduction was not observed. Bile analyses at 30 weeks after HTX showed that in group 1A 13.7 +/- 2.7% of total biliary bilirubin was conjugated. In group 1B a significantly lower fraction was conjugated: 6.6 +/- 1.1% (P less than 0.05). Conjugated bilirubin was not found in bile of groups 2 and 3. Histology showed survival of hepatocytes in all spleens of rats of groups 1A, 1B and 2. It is concluded that congenic hepatocytes from R/APfd donors are not rejected after transplantation into the R/APfd-j/j rat, and maintain long-term function. Splenectomy does not abolish, but does reduce, the therapeutic effect significantly, indicating that part of the transplanted hepatocytes maintains function in the enzyme-deficient host liver. The congenic R/APfd-j/j and R/APfd rat strains represent a new animal model for research in metabolic deficiency disease.

Animals↗
PubMed1976

Pneumocystis carinii pneumonia and primary immune deficiency diseases.

During a 3-year period, 50 cases of Pneumocystis carinii pneumonia in children less than 5 years old were reported to the Parasitic Disease Drug Service, Center for disease Control. Primary immune deficiency diseses constituted the most frequent underlying diseases in patients less than 1 year old (24/29 cases, 83%), whereas acute lymphatic leukemia was the most common underlying diseases in children 1-4 years old (17/21 cases, 81%). Severe combined immunodeficiency was the most common type of immune deficiency disease (15/25 cases, 60%). Six (24%) of the immunodeficient patients each had a sibling who died during infancy of an immunologic deficiency disease and P. carinii penumonia. Although the pathogenesis of the association between immune deficiency and P. carinii pneumonia is poorly understood, defects in both humora and cellular immunity appear to be operative.--Natl Cancer lst Monogr 43: 65-72, 1976.

Age Factors↗
PubMed2003

Long-latency deficiency disease: insights from calcium and vitamin D.

Nutrient intake recommendations and national nutritional policies have focused primarily on prevention of short-latency deficiency diseases. Most nutrient intake recommendations today are based on prevention of the index disease only. However, inadequate intakes of many nutrients are now recognized as contributing to several of the major chronic diseases that affect the populations of the industrialized nations. Often taking many years to manifest themselves, these disease outcomes should be thought of as long-latency deficiency diseases. Sometimes they come about by the same pathophysiologic mechanism that produces the index disease, but sometimes the mechanisms are completely different. Well-documented examples of both short- and long-latency deficiency states involving calcium and vitamin D are described briefly. Then, the insights derived from these nutrients are tentatively applied to folic acid. Discerning the full role of nutrition in long-latency, multifactorial disorders is probably the principal challenge facing nutritional science today. The first component of this challenge is to recognize that inadequate intakes of specific nutrients may produce more than one disease, may produce diseases by more than one mechanism, and may require several years for the consequent morbidity to be sufficiently evident to be clinically recognizable as "disease." Because the intakes required to prevent many of the long-latency disorders are higher than those required to prevent the respective index diseases, recommendations based solely on preventing the index diseases are no longer biologically defensible.

Anemia, Megaloblastic↗