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R Carmi

Publications and source records attributed to R Carmi.

104 records · Page 6Linked to original sources
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

Fragile-X syndrome ascertained by the presence of macro-orchidism in a 5-month-old infant.

The fragile-X syndrome, an X-linked form of mental retardation, is estimated to affect one in every 1,000 to 2,000 live-born male infants. Most commonly, fragile-X syndrome has been detected only after patients clearly demonstrate developmental delay, and frequently detection occurs only if the family history is consistent with X-linked mental retardation. Macro-orchidism is a finding commonly associated with the fragile-X syndrome. It has been suggested that the sparsity of reports of macro-orchidism among prepubertal boys with the fragile-X syndrome might be due to lack of careful measurement of the tests rather than to initiation of the enlargement at puberty. A 5-month-old infant with fragile-X syndrome, ascertained through testicular enlargement noted by actual measurement of testicular size as part of his physical examination, is reported.

Adult↗
PubMed1983

The branchio-oto-renal (BOR) syndrome: report of bilateral renal agenesis in three sibs.

We report a man who had the branchio-oto-renal (BOR) syndrome with crossed renal ectopia. His three children were born with bilateral renal agenesis and the so-called Potter syndrome. This case illustrates the potential severity of the renal anomalies in the BOR syndrome and the inadequacy of oligohydramnios and maternal serum alpha-fetoprotein as screening methods for renal agenesis. This case also implies strongly the necessity for meticulous search for renal anomalies in individuals with the BOR syndrome and proper counseling regarding the possibility of lethal bilateral renal agenesis.

Abnormalities, Multiple↗
PubMed1983

Discordant Hirschsprung's disease in monozygotic twins.

Two pairs of twins are being reported where monozygocity was supported by the observed sharing of a single and common placenta and by ABO and HLA identity. Only one of each pair of twins was affected by long-segment Hirschsprung's disease; the other twins were entirely normal. Discordant Hirschsprung's disease in monozygotic twins is very rare. The etiology in such cases is influenced by genetic or by environmental intrauterine factors rather than by postnatal influences, as suggested elsewhere.

Diseases in Twins↗
PubMed1983

HSV-specific serum/CSF antibody ratio in association with HSV serum IgM antibodies in diagnosis of herpes encephalitis in infants.

Herpes simplex virus encephalitis (HSVE) has a reported mortality of 60 to 80%. Because of the recently published data on experience with the antiviral agent vidarabine, early diagnosis of this infection becomes imperative if enhanced therapeutic efficacy is to be achieved. At the present time the only way to diagnose HSVE with certainty is by brain biopsy. However, in cases with biopsy-proven HSVE, it has been shown that a rise in serum and cerebrospinal fluid (CSF) antibody titers to HSV, resulting in serum: CSF ratios of less than 20, may be diagnostic for HSVE. Three infants, aged 5, 7 and 12 months, are described. All of them presented with fever, convulsions and CSF pleocytosis which, together with computer tomography scan findings, were suggestive of meningoencephalitis. The diagnoses of HSVE were made by IPAMA (immunoperoxidase antibody to membrane antigen) for determination of HSV-specific IgG titers, and ELISA (enzyme-linked immunosorbent assay) for determination of HSV-specific IgM titers. All three infants had HSV-specific IgM in their serum, as well as HSV-specific serum IgG:CSF IgG ratios of less than 20. Two infants were treated with vidarabine with significant improvement in one and complete recovery in the other. Increased clinical awareness of HSVE symptoms, combined with the application of these rapid methods of diagnosis, might significantly improve the outcome of HSVE.

Antibodies, Viral↗
PubMed1982

Aplasia cutis congenita in two sibs discordant for pyloric atresia.

We report two sibs who were the products of a consanguineous mating, and who had an extensive form of aplasia cutis congenita (ACC). In one of them the generalized skin disorder was manifested by slipping off of the epidermis and mucous membranes with the slightest trauma. This sib also had pyloric atresia and other congenital malformations. Two hypotheses are presented to explain the discordance between the siblings for the abnormalities other than the ACC. One hypothesis assumes varying degrees of severity of the same autosomal recessive disease. The second suggests linkage between the gene for ACC and the gene for an epidermolysis bullosa (EB)-like disorder and pyloric atresia. a recombination event involving the EB-pyloric atresia gene in one carrier parent would then lead to an offspring with only ACC. Prenatal diagnosis is suggested by monitoring alpha-fetoprotein levels in aminotic fluid.

Abnormalities, Multiple↗
PubMed1981

Familial midgut anomalies--a spectrum of defects due to the same cause?

We report three familial cases with congenital midgut anomalies: a father and his daughter with congenital midgut volvulus and a consequent intestinal obstruction and father's female sib with atresia of the ascending colon. A common hypothetical cause operating at different gestational periods will be discussed along with the possible genetic implications.

Colon↗
PubMed1980

Malformation syndrome associated with small extra chromosome.

We report an infant with a previously apparently unreported lethal malformation syndrome concentrated primarily on the left half of the body, but including midline defects such as meningomyelocele, cleft lip and cleft palate, and imperforate anus. The infant also had a small extra metacentric chromosome in 60% of lymphocytes. It is postulated that the small extra chromosome (whose origin remains unknown) caused the infant's condition, and that its asymmetry is compatible with an uneven distribution of the normal and aneuploid cell lines in the two halves of the body during critical phases of prenatal development.

Abnormalities, Multiple↗
PubMed1979

Monosomy 21: a possible stepwise evolution of the karyotype.

We describe a female infant with manifestations of complete monosomy for chromosome 21 intrauterine growth retardation, failure to thrive, craniofacial anomalies, arthrogryposis-like features, and psychomotor retardation. Chromosome analysis demonstrated mosaicism for three different cell lines in the various tissues examined; 45,XX,-21/46,XX,del(21)(q11)46,XX. The existence of these three lines suggests a possible explanation for the few cases of "complete monosomy 21" which have been reported.

Abnormalities, Multiple↗
PubMedDate not supplied

Congenital chylothorax--prenatal ultrasonic diagnosis and successful post partum management.

The prenatal diagnosis by ultrasound of congenital chylothorax is described allowing early intervention immediately after delivery. Unilateral fluid collection in the right lung with marked displacement of the heart to the left were the most prominent sonographic signs. Post partum thoracocentesis and chylus fluid drainage served as a life saving procedure.

Adult↗
PubMedDate not supplied

Lowering the burden of hereditary diseases in a traditional, inbred community: ethical aspects of genetic research and its application.

The remarkable progress in modern genetic technology enables the identification of genes causing devastating diseases and thereby the development of tools for prenatal diagnosis and carrier detection. To implement the results of genetic research in traditional societies, where genetic diseases are more prevalent due to inbreeding, necessitates a culturally appropriate approach that also promotes traditional and societal values important to the relevant community. This paper presents our experience with implementing the results of modern genetic research among the traditional community of the Negev Bedouin of Israel. Although the benefit of using those results for the prevention of genetic diseases seems obvious, successful implementation relies on a carefully designed educational program aimed at changing culturally related attitudes and perceptions. Such a program should attend to the needs of the community and be sensitive to its traditional values.

Arabs↗
PubMedDate not supplied

Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C.

PURPOSE: Niemann-Pick disease type C (NP-C) is an autosomal recessive lipid storage disease manifested by an impairment in cellular cholesterol homeostasis. The clinical phenotype of NP-C is extremely variable, ranging from an acute neonatal form to an adult late-onset presentation. To facilitate phenotype-genotype studies, we have analyzed multiple Israeli NP-C families. METHODS: The severity of the disease was assessed by the age at onset, hepatic involvement, neurological deterioration, and cholesterol esterification studies. Screening of the entire NPC1 coding sequence allowed for molecular characterization and identification of disease causing mutations. RESULTS: A total of nine NP-C index cases with mainly neurovisceral involvement were characterized. We demonstrated a possible link between the severity of the clinical phenotype and the cholesterol esterification levels in fibroblast cultures following 24 hours of in vitro cholesterol loading. In addition, we identified eight novel mutations in the NPC1 gene. CONCLUSIONS: Our results further support the clinical and allelic heterogeneity of NP-C and point to possible association between the clinical and the biochemical phenotype in distinct affected Israeli families.

Age of Onset↗
PubMedDate not supplied

Synthetic patch for scleral tissue loss.

We report a case in which traumatic scleral tissue loss was surgically treated by a synthetic patch used in neurosurgical procedures. In the present case the patch served as a permanent solution to scleral loss. The patch is available commercially and easily stored. In the light of our experience, we suggest that this patch material be considered for both urgent and semi-elective scleral patching procedures.

Adult↗