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Biomedical subjects

J Chemke

Publications and source records attributed to J Chemke.

At least 55 records · Page 3Linked to original sources
PubMed1984

Philadelphia chromosome in idiopathic acquired sideroblastic anemia.

In a 70-year-old female patient with idiopathic acquired sideroblastic anemia (IASA) the karyotype revealed the presence of a Philadelphia chromosome in one third of the bone marrow mitoses. The patient was followed for 45 months and no signs of chronic myeloid leukemia or other leukemic transformation developed. In IASA the chromosomal changes are variable. This is the first report showing the presence of a Ph1 chromosome.

Aged↗
PubMed1984

Adrenoleukodystrophy: very long-chain fatty acid metabolism in fibroblasts.

We studied very long-chain fatty acid (VLFA) metabolism in cultured fibroblasts from patients with adrenoleukodystrophy (ALD). Total hexacosanoate (C26:0) content of ALD fibroblasts was sixfold higher than normal and did not return to normal when cells were grown in lipid-free medium. When normal or ALD fibroblasts were grown in medium containing 10% ALD serum (which is enriched in C26:0), there was no further increase in C26:0 content compared with cells grown in 10% normal human serum. Uptake and loss of 1-14C-palmitate (C16:0) and 1-14C-lignocerate (C24:0) by ALD fibroblasts were similar to normal fibroblasts. Catabolism of exogenous 3H-C26:0 to 3H2O was about 30% of normal. Oxidation of exogenous 1-14C-hexacosanoate, 1-14C-lignocerate, and 1-14C-palmitate in intact ALD fibroblasts was 42%, 27 +/- 13% (SD), and 73 +/- 47%, respectively, of normal. These results are consistent with, but do not conclusively prove, a VLFA oxidation defect in ALD fibroblasts.

Adrenoleukodystrophy↗
PubMed1984

Genetic counselling for trisomy 20 mosaicism in amniotic fluid cell cultures.

Trisomy 20 mosaicism in amniotic fluid cell cultures has an obscure origin and significance. In only a few cases has the mosaicism been confirmed in fetal tissues, but never in neonatal tissues. There is some indication that the trisomic cells might originate from epithelial cells deriving from the urinary tract. A review of 20 demonstrated cases reveals that no consistent malformation pattern is associated with this finding. Since it is questionable whether the presence of this mosaicism in amniocentesis can be regarded as a manifestation of abnormal fetal development, we suggest that it does not justify interruption of pregnancy. Postnatal cytogenetic studies and follow-up are indicated in these infants.

Adult↗
PubMed1984

Adrenoleukodystrophy in Israel: a genetic, clinical and biochemical study.

Adrenoleukodystrophy (ALD) is a fatal X-linked recessive lipid storage disease characterized by progressive CNS demyelination and adrenal insufficiency. Adrenomyeloneuropathy (AMN) is a variant of ALD, with a later onset and more prolonged course, presenting as a peripheral myeloneuropathy. A wide spectrum of clinical manifestations exists in both forms of the ALD complex. Affected infants are clinically normal at birth and in early infancy. Progressive cerebral dysfunction and adrenal failure appear usually between 5 and 10 years of age. Brain white matter macrophages, adrenal cortical cells and other tissues contain characteristic cytoplasmic inclusions. The specific biochemical abnormality in the ALD complex is an accumulation of very long-chain fatty acids (VLCFA) in different tissues and plasma, mainly tetracosanoic (C24:0) and hexacosanoic (C26:0) acids. Metabolic studies have been consistent with an oxidative defect of VLCFA. Clinical, genetic and biochemical data are presented on the first six families with documented ALD in Israel. There appears to be no ethnic predilection. ALD and AMN are found concomitantly, and all clinical forms are present.

Adolescent↗
PubMed1984

Absence of teratogenicity of indomethacin in ovarian hyperstimulation syndrome.

Eight women were treated for ovarian hyperstimulation syndrome (OHSS), grades 2-4, with indomethacin. The treatment was initiated 2-7 days after human chorionic gonadotropin administration and the period of treatment ranged between 3-8 days. The total dose was between 700-1200 mg. Nine live babies were born weighing between 2200-3950 gr. Except for a mild degree of hypospadias in one baby, there were no congenital malformations. This seems to indicate that indomethacin given under the described conditions has no apparent teratogenic effect.

Adult↗
PubMed1983

Prophylactic laser photocoagulation in hereditary snowflake vitreoretinal degeneration. A family report.

Examination of 37 members of a family revealed that 17 had snowflake vitreoretinal degeneration. All those affected showed some evidence of vitreous degeneration and 13 had retinal changes with differing degrees of severity. Vitreal changes may thus present as an early stage when hardly any retinal pathology is apparent. Peripheral retinal neovascularization was seen in four patients. Rhegmatogenous retinal detachment developed in two eyes and retinal breaks in six additional eyes. Because of the poor surgical prognosis in such cases, prophylactic treatment with argon laser photocoagulation is recommended for any type of retinal break.

Adolescent↗
PubMed1983

Bisatellited microchromosomes and multiple congenital malformations.

The significance of small additional metacentric chromosomes is still unclear. A patient is reported with multiple congenital malformations involving craniofacial structures, the cardiovascular system and gastrointestinal tract, in whom an extra small bisatellited chromosome was detected. The maternal karyotype revealed a marker number 9 chromosome. These cases present a true diagnostic dilemma in genetic counseling, since chromosomal instability may occur in the presence of parental minor structural chromosomal changes.

Abnormalities, Multiple↗
PubMed1983

Aberrant melanoblast migration associated with trisomy 18 mosaicism.

A patient is reported with mental retardation, facial and body asymmetry, and hyperpigmented areas limited to the right side of the body. Cytogenetic studies revealed trisomy 18 in 50% of peripheral blood lymphocytes; fibroblast cultures from the hyperpigmented area showed pure trisomy 18, while the karyotype on the unaffected side was normal. This could be an example of the 'lines of Blaschko', considered to be a form of 'human mosaicism', in which an abnormality occurred in melanocytes migrating from the neural crest. Non-disjunction of one chromosome 18 appears to be associated with the mutational event that caused abnormal migration of melanoblasts.

Adolescent↗
PubMed1980

Asymmetry and discordance for congenital anomalies in conjoined twins: a report of six cases.

Six pairs of conjoined twins have been studied. The first case was a pair of 13-week-old omphalopagus fetuses. One was a holoacradius amorphus and the other had rachischisis and anencephaly. The second case was a pair of omphalopagus twins. One of the twins was macerated and corresponded to a developmental age of 13-14 weeks, while the other was developed to 28-30 weeks of gestation and exhibited urogenital and gastrointestinal defects not found in the smaller twin. In the third case, that of a thoracoomphalopagus, one had cleft lip and palate, pulmonic stenosis, and atresia of the ileocecal valve, while the other did not show these anomalies. In the fourth cae, also omphalopagus twins, one had a lumbosacral meningomyelocele and severe gastrointestinal and urogenital anomalies not found in the second twin. The fifth case was a pair of thoracoomphalopagus twins, sharing a common heart with asymmetrical anomalies. The sixth case was a diprosopus anencephalic conjoined twin. The first pairs of conjoined twins were discordant for several abnormalities in nonshared organs, in addition to having abnormalities of the conjoined organs. It seems that discordance in conjoined twins is not a rare finding. The factors that play a role in discordance of anomalies in conjoined twins are probably similar to the factors in monozygotic twins--i.e., environmental, genetic, and abnormal placental and/or fetal circulation.

Abnormalities, Multiple↗
PubMed1980

Absent ulna in the Klippel-Feil syndrome: an unusual associated malformation.

A patient is reported with a severe type 2 Klippel-Feil syndrome, and absent ulna and ulnar ray. The severity of the musculo-skeletal involvement did not allow for corrective procedures. This uncommon association of skeletal malformations has not been previously reported. Since this syndrome has been described in families as a possible autosomal recessive trait, a 25% recurrence risk and the possibility of prenatal detection by fetal visualization methods should be taken into consideration.

Female↗