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Biomedical subjects

D Nadal

Publications and source records attributed to D Nadal.

At least 127 records · Page 7Linked to original sources
PubMed1988

Menkes' disease: long-term treatment with copper and D-penicillamine.

Menkes' disease is a rare X-linked recessive inherited disorder of copper metabolism characterized by neurodegeneration, peculiar hair, and early death. The symptoms can be attributed to decreased activity of copper-dependent enzymes, but treatment with copper has so far failed to influence the course of the disease. We present the case of an 8.5-year-old boy, whom we treated alternately with intramuscular copper-histidine and oral D-penicillamine and who showed an extraordinary mild form of Menkes' disease. In contrast to his untreated maternal uncle, this patient had normal growth and intellectual development, but showed marked ataxia and slight speech difficulties. We suggest that parenteral copper-histidine supplemented by oral D-penicillamine may be of benefit to early-treated patients with Menkes' disease.

Body Fluids↗
PubMed1988

[The significance of pathophysiologic principles of intestinal secretion for the diagnosis and therapy of ileus].

Intestinal obstruction is always accompanied by intestinal hypersecretion. This phenomenon explains the initial symptoms like bilious vomiting and abdominal distension as well as the later clinical signs of hypovolaemia and shock. The proximal hypersecretion in intestinal obstruction is incompletely understood and in the surgical literature on ileus only little attention has been paid to this crucial observation. In analogy to secretory diarrhea and because of own clinical observations we conclude that bowel contamination caused by intestinal stasis is mainly responsible for the increased intestinal secretion in bowel obstruction.

Adolescent↗
PubMed1988

Evaluation of diagnostic tests for HIV infection in infants born to HIV-infected mothers in Switzerland.

Children born to HIV-infected women in Switzerland were tested every 3 months for HIV-reactive serum immunoglobulin (Ig) G, IgM and IgA antibodies by Western blot, viral antigen, virus replicating in T-lymphocyte cultures, and immunologic and clinical parameters. At birth, 27% were isolation-positive, 68% had IgM, 48% IgA and 10% circulating antigen. The proportion of IgM and IgA declined to about 18 and 27%, respectively, during the first 2 years. Detection of circulating antigen was less frequently positive than virus isolation in all age and disease groups. Clinical symptoms were only seen in infants or children who were or had been positive for IgM and/or IgA, but only 39% of children positive for these markers have developed disease so far. Clinical symptoms combined with signs of immunodeficiency were seen only in children who were isolation-positive or had evidence of HIV-reactive IgA or child-produced IgG. Absorption studies showed that Western blot-detected IgM and IgA antibodies were of two types: 42% were directed against various HIV proteins, while the rest represented rheumatoid-factor-like IgM or IgA binding to HIV-specific IgG. HIV-specific IgG antibodies were detected in all samples up to the age of 12 months and were still found in 83% of infants 13-18 months old. We observed weak HIV-specific IgG above the age of 15 months with no other signs of HIV infection, suggesting that the demonstration of antibodies in children beyond this age does not necessarily indicate HIV infection.

AIDS Serodiagnosis↗
PubMed1988

Acrodermatitis chronica atrophicans.

Two cases of acrodermatitis chronica atrophicans associated with Borrelia burgdorferi infection are reported; to our knowledge these are the first cases reported in children.

Acrodermatitis↗
PubMed1988

[Menkes syndrome].

Explore the source record for details and available documents.

Brain Diseases, Metabolic↗
PubMed1986

[Hypereosinophilic syndrome in acute lymphatic leukemia].

Acute lymphatic leukemia (common-ALL-Ag positive) was found to be the underlying disease in a 4-year-old boy with arthropathy, generalized rash and marked eosinophilia. ALL may be overlooked in the early stages. Cytochemical, chromosomal and immunological markers are needed to distinguish it from other leukemias. As shown by the data of 25 patients from the literature, hypereosinophilic syndrome (HES) influences morbidity and lethality. Hydroxyurea rapidly lowers the eosinophil counts and may therefore prevent the cardiac involvement typical of HES.

Child, Preschool↗
PubMedDate not supplied

Brucellosis: an occupational hazard for medical laboratory personnel. Report of five cases.

Five cases of laboratory-acquired infection with Brucella melitensis are reported. This pathogen is highly contagious when handled in the laboratory. Clinicians should alert technologists when brucellosis is suspected so that specimens are handled under the most stringent safety measures. Serological surveys and instructions of laboratory workers regarding the clinical diversity of the disease are helpful for early recognition of secondary cases. On the other hand, clinicians should consider brucellosis in medical laboratory workers with unexplained signs and symptoms.

Adult↗
PubMedDate not supplied

Sporadic tuberculous meningoencephalitis.

Tuberculous meningoencephalitis in a 24-month-old boy is reported. He contracted the infection from his apparently healthy grandfather with unnoticed pulmonary tuberculosis, as suggested by restriction fragment length polymorphism analysis of the isolated pathogen.

Cerebrospinal Fluid↗
PubMedDate not supplied

Unusual presentations of neuroborreliosis (Lyme disease) in childhood.

Two children with atypical neuroborreliosis (cranial polyneuritis and acute transverse myelitis) are presented. The diagnosis was confirmed by the determination of specific antibodies against Borrelia burgdorferi in both serum and CSF. Neuroimaging findings were nonspecific, indicating, however, that neuroborreliosis should be included in the differential diagnosis of cases with cranial polyneuritis and acute transverse myelitis in childhood.

Antibodies, Bacterial↗