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Biomedical subjects

J Chemke

Publications and source records attributed to J Chemke.

87 records · Page 5Linked to original sources
PubMed1975

Maple syrup urine disease. Two cases in Israel.

The first two patients in Israel in whom the diagnosis of maple syrup urine disease was confirmed are reported. The clinical course of the disease and therapeutic procedures during the first months of life are described. The age on onset and the severity of neurological symptomatology were different in the two patients. In the first, blood leucine levels were extremely high, and drastic procedures, such as peritoneal dialysis, were employed in addition to dietary treatment to lower the leucine levels to normal and to improve the patient's clinical condition. In the second infant, blood leucine levels were moderately elevated and the disease was controlled by dietary treatment alone. Neither of the patients responded to thiamine hydrochloride treatment. The two infants probably represent examples of different genotypes of the classic form of maple syrup urine disease.

Female↗
PubMedDate not supplied

Familial dysautonomia manifesting as neonatal nemaline myopathy.

An infant presented with congenital hypotonia, poor sucking, apathy, and areflexia. Muscle biopsy at two months of age revealed numerous nemaline rods, suggesting congenital nemaline myopathy. During the ensuing months, familial dysautonomia was suggested by recurrent pulmonary infections, dysphagia, alacrima, hyperhydrosis, emotional lability, and unexplained episodes of hyperthermia and breath-holding spells. The diagnosis was confirmed by positive intradermal histamine and ocular mecholyl tests. The finding of nemaline rods adds a new facet to the recognized polymorphic presentation of familial dysautonomia.

Biopsy, Needle↗
PubMedDate not supplied

Neonatal neurofibromatosis: unusual manifestations with malignant clinical course.

A family with neurofibromatosis is reported in which the proband was an infant in whom the diagnosis was established at birth. In this case, the presenting symptom was a large tumor of the tongue and macrocephaly. Cafe-au-lait spots appeared early, as did additional subcutaneous tumors, with skeletal involvement and severe psychomotor retardation. The rapid growth of the tumor, its spread within the mediastinum, neck and oral cavity, led to a strangulating death at one year of age. The disease originates from early embryonic involvement of the neural crest and from tissues derived from its caudal end. It is probably caused by a single pleiotropic gene transmitted as an autosomal dominant trait, with varying expression of the disease in different members of the same family.

Adolescent↗
PubMedDate not supplied

Prenatal diagnosis of genetic diseases.

The prenatal diagnosis of genetic disorders has become one of the most important tools in medical genetics and has changed the face of genetic counseling. Over 100 inherited metabolic diseases, all chromosomal abnormalities and a number of major congenital malformations can already be diagnosed at relatively early stages of fetal development. Various techniques at different stages of pregnancy are presently available. The earliest procedure, using chorionic villus biopsies, can be performed at approximately 8 weeks of gestation; however, the safety and efficacy of this method are not clear. Amniocentesis is performed at 16 weeks of gestation, and analyses of amniotic fluid and amniocytes are still the most commonly used diagnostic procedures to detect genetic disorders in the fetus. Moreover, real-time ultrasonography and fetoscopy permit the detection of a large number of fetal structural abnormalities in the second trimester of pregnancy through fetal blood samples, fetal skin biopsies, and observation of the fetal external anatomy.

Amniocentesis↗
PubMedDate not supplied

Carcinoma of pancreas associated with the 5q-syndrome.

A female patient with the 5q-syndrome (refractory macrocytic anemia with deletion of the long arm of No. 5 chromosome) was followed-up for a period of 33 months and developed a carcinoma of pancreas. Until death she showed no signs of leukemic transformation. This association has not been described, and the genetic predisposition of 5q-patients to malignancies is discussed.

Adenocarcinoma↗