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Biomedical subjects

M B Katznelson

Publications and source records attributed to M B Katznelson.

At least 19 recordsLinked to original sources
PubMed2001

Relationship between genetic anomalies of different levels and deviations in dermatoglyphic traits. Part 7: Dermatoglyphic peculiarities of females with cervical and endometrial carcinoma.

This study was carried out to evaluate the effects of neoplastic diseases like carcinoma of the cervix and endometrial carcinoma, and was based on dermatoglyphic traits and their indices of intraindividual diversity (Div), fluctuating asymmetry (FIA) and directional asymmetry (DA). The results were compared with control groups of women and men, whose data have been detailed in our previous publications (Kobyliansky et al., 1999 a-d), and with analogous data of additional cancer groups available in the literature, like acute leukemia, bronchial cancer and breast cancer. The general aims of the study were as follows: (a) to obtain a dermatoglyphic characterization of discrete and quantitative traits and their Div, DA, FIA values in cancer patients, compared to healthy control groups, both female and male; (b) to test the hypothesis that in cancer patients there is an increased level of FIA as a result of an impaired developmental homeostasis; (c) to explore the possibility of using DT (dermatoglyphic traits) data of CW (women with cancer) to predict the probability of the appearance of cervical and endometrial carcinoma in apparently healthy females at a young age. The sample consisted of 94 Israeli-Jewish women of various groups, of which 54 had endometrial carcinoma and 40 had cervical carcinoma. The prints were collected in the Tel-Hashomer Hospital. The control group was a sample of 874 healthy subjects, half of them male and the other female, all from Jewish communities of European extractions (50%) as well as from Africa (50%). All controls were adults (over 18 years of age). Interpretation of prints was performed according to Cummins & Midlo (1961) and Penrose (1968) and included identification of patterns, ridge counts and the measurement of distances and angles in the palms, 79 DT for every individual were assessed. Significant differences were found for some of the studied traits between cancer patients and their healthy control groups. We encountered merely a low sexual dimorphism between the CW and the control males as compared to that between control males and females (with significant differences in 18% of the quantitative traits vs 64% in the control). The indices of diversity and asymmetry proved more suitable for discrimination, yielding the highest discrimination level between CW and control females. This finding suggested other data in the present study which points to a similarity between CW and control males.

Adult↗
PubMed1999

Perceived personal control (PPC): a new concept in measuring outcome of genetic counseling.

Many researchers have tried to establish criteria for the evaluation of genetic counseling and the assessment of its success. Most studies focused on counseling outcomes mainly educational and reproductive variables. In the present study we introduced the concept of "perceived personal control" (PPC), which captures a wider and more meaningful range of effects of genetic counseling. It was found to be central to coping with health threats and to adapting to a broad spectrum of health problems. This study investigated 154 counseling cases. Counselees were requested to complete pre- and post-counseling questionnaires consisting of a knowledge test, measures of PPC, expectations/evaluations of counseling, and satisfaction with the procedure. Comparisons of mean PPC scores before and after counseling showed significant increases. Higher post-counseling PPC was found among counselees who had been given a definite diagnosis, a specific recurrence risk, and been offered prenatal diagnosis. Post-counseling PPC also correlated with knowledge, satisfaction, counseling evaluations, and expectation fulfillment. The findings suggest that PPC is a valid measure for the evaluation of genetic counseling outcomes. The psychometrically reliable scales developed in this study can become helpful tools for assessing genetic counseling both in research and in clinical practice, helping the counselor evaluate the counseling session and focus on the counselees' needs.

Adult↗
PubMed1999

Relationship between genetic anomalies of different levels and deviations in dermatoglyphic traits. Part 6: Dermatoglyphic peculiarities of males and females with cleft lip (with or without cleft palate) and cleft palate--family study.

The present study was carried out to evaluate the effect of polygenic morbidity with respect to Cleft Palate and Cleft Lip with or without Cleft Palate (CL) in males and females based on dermatoglyphic traits (DT) and indices of intraindividual diversity (Div), fluctuating (FA) and directional (DA) asymmetry. The main objectives of the present study were as follows: a) to find DT and FA indices, which could be "marker" traits and could indicate the degree of developmental instability of the organism; b) to explore the possibility of using DT, FA, Div and DA indices of CL patients and their parents and to predict the likelihood of the disease appearing in the offsprings of apparently healthy individuals. The samples were of 106 CL patients (59 males and 47 females) and 156 of their parents (67 fathers and 89 mothers), all Israeli Jews. The prints were collected in the Beilinson (Petah-Tikva) and Rambam (Haifa) and Hadassah (Mount Scopus, Jerusalem) Hospitals, or in the abodes of the CL patients. The results were compared with the control group of healthy women and men whose data are detailed in our previous publication. Interpretation of the prints were done according to the methods and included identification of patterns, ridge counts and the measurements of distances and angles in the palms, 79 DT for every individual, 28 continuous traits, 9 discrete traits, 11 indices of Div, 15 DA indices and 16 FA indices. In CL groups increased FA indices values were found and a decreased sexual dimorphism in DT of the CL and parental groups as compared to the control--this both in terms of the number of significant differences, as well as in values of the traits (e.g. smaller differences between the male and female values). The above mentioned findings were partly confirmed also by the discriminant analysis. The values of DT parents were generally similar to those of the control. The best discrimination was obtained between the CL and control groups (70.44% between CL males and control males and 83.47% between CL females and control females). Over 50% of the DT variables were found to be suitable for including into the discriminant function.

Adolescent↗
PubMed1999

Relationship between genetic anomalies of different levels and deviations in dermatoglyphic traits. Part 4: Dermatoglyphic peculiarities of males and females with Down syndrome. Family study.

The present study was carried out in order to evaluate the effect of chromosomal morbidity (trisomy 21) in males and females with Down's Syndrome (DS) based on dermatoglyphic traits (DT) and their indices of diversity and asymmetry. The results were compared between parents and control groups of women and men whose data are detailed in our publication (Kobyliansky et al. 1999). The general aim of the study was to explore the possibility of using DT of the parents of DS patients to predict the likelihood of the disease appearing in the offspring. The samples were of DS patients (198 males and 140 females) and their parents (84 fathers and 153 mothers), all Israeli Jews. The prints were collected in the Genetic Institute of the Sheba Hospital, Ramat-Gan, Israel, and were validated by chromosomal examination. Interpretation of the prints was done according to Cummins & Midlo (1961) and Penrose (1968) and included identification of patterns, ridge counts and the measurements of distances and angles in the palm of the hands; 79 DT for every individual: 28 continuous traits, 9 discrete traits, 11 indices of intraindividual diversity (Div), 15 indices of directional asymmetry (DA) and 16 indices of fluctuating asymmetry (FA) were estimated. This study supports the hypothesis that the magnitude of FA in groups with low developmental stability (groups with chromosomal aberrations) or other birth defects, is elevated, compared with FA in healthy controls. The present study found proof of the existence of an additive genetic component in the FA of DT, while an increased FA was observed in parents of DS patients in comparison to control groups. The DT which are typical to DS patients were confirmed also in parents. The decrease in sexual dimorphism of the DT was found in DS patients and their parents in comparison with the control.

Adult↗
PubMed1996

t(15;21)(q15;q22.1) pat resulting in partial trisomy and partial monosomy of chromosomes 15 and 21 in two offspring.

Two sibs, carriers of unbalanced products of the translocation t(15;21)(q15;q22.1) pat, are described. The sister had Prader-Willi syndrome due to deletion 15 (pter > q15) and partial trisomy 21 (pter > q22.1); her brother had partial trisomy 15 (pter > q15) and partial monosomy 21 (pter > q22.1). The translocation breakpoint on chromosome 21 was located proximal to the SOD1 gene, within a region of 4.0 cM (2.3 Mb) between the loci D21S217 and D21S213. The correlations between the clinical presentation and the molecular findings of the two sibs are discussed in relation to other patients with partial trisomy and monosomy 21.

Adolescent↗
PubMed1994

Dermatoglyphics in Darier's disease.

BACKGROUND: Darier's disease is an acantholytic dyskeratotic genodermatosis with autosomal dominant inheritance. A predictive diagnostic marker for this disorder would be beneficial because of the relatively late onset and the large number of sporadic cases of the disease. The dermatoglyphic features of patients with Darier's disease were examined to determine whether they have a common pattern. METHODS: Ink prints of fingers and palms obtained from 11 patients of both sexes with sporadic and familial Darier's disease were analyzed and compared with those of normal subjects. RESULTS: No significant quantitative or qualitative differences were found between the dermatoglyphic features of our patients and those of a healthy population, except for punctate interruptions of the skin ridges that indicate pitting, a well-known manifestation of Darier's disease. CONCLUSIONS: These results refute the conclusions of a previous publication claiming that there is a common characteristic dermatoglyphic feature in patients with this dermatosis.

Adolescent↗
PubMed1994

Oligodontia, short stature and small head circumference with normal intelligence.

Complete absence of third molars and mandibular permanent second molars is reported in a 19-year-old female, with occipito-frontal head circumference and height at the 3rd centile. The patient's intelligence, appearance and physical examination were normal. Direct count of the patient's sweat pores in different areas of the palms and digits was normal. Microcephaly, short stature and normal intelligence have been reported in two families as a distinct autosomal dominant syndrome. To the best of our knowledge, oligodontia, in addition to these findings, has not been previously reported.

Adult↗
PubMed1993

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.

We report on a "new" severe short-limb bone dysplasia which can be labeled descriptively a spondylo-meta-epiphyseal dysplasia. The 3 patients were born to 2 unrelated Sepharadic Jewish families and a Puerto Rican family. Clinical abnormalities include small stature with short limbs including short hands, a short nose with wide nasal bridge and wide nostrils, a long philtrum, ocular hypertelorism, retro/micrognathia, and a narrow chest. Radiological abnormalities include platyspondyly, short tubular bones with very abnormal metaphyses and epiphyses beyond early infancy, short ribs, and a typical evolution of bony changes over time. Chondroosseous morphology and ultrastructure document sparse matrix and degenerating chondrocytes surrounded by dense amorphous material in the 1 patient studied. Consanguinity is present in 1 family. In addition to the described patient, 2 other short-limb sibs, who did not survive infancy, were born into this family. Even in the absence of any photographic or radiologic documentation of these other 2 infants, autosomal recessive mode of inheritance seems probable.

Bone Diseases, Developmental↗
PubMed1991

New form of postaxial acrofacial dysostosis?

We report on a 2-month-old Sephardic Jewish girl with bilateral and symmetrical deficiency of the fifth digital rays of all 4 limbs, combined with severe deformations and other malformations of the limbs. These findings were associated with orofacial malformations, as well as with visceral anomalies differing from those found in other postaxial deficiency syndromes. Parents were closely consanguineous. We assume this patient represents a new form of postaxial acrofacial dysostosis.

Abnormalities, Multiple↗
PubMed1991

Concordance of auriculo-cardiovascular-skeletal malformations: a new malformation complex in an infant of a diabetic mother?

The incidence of malformations among infants of diabetic mothers (IDM) is known to be higher than in the general population. These malformations usually involve several organ systems and in the past few years there has been an attempt to group them into distinct "syndromes." The present report concerns a child with a specific constellation of findings not yet reported in the infant of a diabetic mother, and we urge our colleagues to look for other associations existing in these infants, rather than just listing series of individual malformations.

Abnormalities, Multiple↗
PubMed1991

Fetal lateral ventricle choroid plexus cysts: the dilemma of amniocentesis.

Although lateral ventricle choroid plexus cysts in the second-trimester fetus have been considered a benign developmental phenomenon of no clinical significance, an association with trisomy 18 has been suggested. We designed a prospective study to determine whether karyotype analysis is indicated when such cysts are encountered on prenatal sonogram. During a 20-month period, 5400 low-risk pregnant women were examined sonographically in the second trimester to evaluate the prevalence of fetal lateral ventricle choroid plexus cysts and the incidence of ultrasonographic anomalies associated with such cysts in fetuses with trisomy 18 referred from cytogenetic laboratories. Thirty cases of fetal lateral ventricle choroid plexus cysts (0.6%) were detected during the study period; 28 newborns were normal and two had trisomy 18. One of the affected infants had other associated ultrasonographic abnormalities suggesting aneuploidy, whereas no detectable abnormalities could be found in the other. Three other pregnant women were referred to us from the cytogenetics services because fetal karyotype revealed trisomy 18; in all three cases lateral ventricle choroid plexus cysts and other sonographic abnormalities were observed. In total, we scanned five fetuses with trisomy 18, of which all had lateral ventricle choroid plexus cysts and four had associated detectable anomalies. We could not find any association between cyst size, number, or laterality and trisomy 18. In addition to the five cases of trisomy 18 described, we found 33 other fetuses reported with trisomy 18 in the second trimester; of this total, 25 (66%) had lateral ventricle choroid plexus cysts and 30% had no other detectable abnormalities.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1989

New chromosome aberration: duplication of a large part of chromosome 4q and partial deletion of chromosome 1q.

We describe a preterm female infant with multiple anomalies who has a duplication of a large part of 4q and partial deletion of chromosome 1q. Her karyotype was interpreted to be 46,XX,-1,+der(1),t(1;4) (q44;q23 or 24)mat. She is the first patient with an unbalanced translocation involving chromosomes 4 and 1. There is a substantial amount of concordance between the phenotypic features of this patient and those described in the context of partial deletion 1q. The extensive duplication of 4q has no dominant clinical effects in the present infant. These facts support the general concept of much more deleterious effects of deletions versus duplications in human species.

Abnormalities, Multiple↗
PubMed1989

Interstitial deletion 2q14q21.

A girl with multiple congenital anomalies and a tendency to severe pyogenic infections was found to have an interstitial deletion of chromosome band 2q14----q21. Unusual facial manifestations included enophthalmos, long philtrum, micrognathia, narrow forehead, prominent glabella, and depressed nasal bridge. Unilateral corneal clouding, with Peters-like anomaly; agenesis of the corpus callosum; brain atrophy; and heart, kidney, hand, and dermatoglyphic anomalies were additional findings. Eye anomalies were observed in five of 22 patients with deletions of chromosome 2q. In comparing these cases, it seems that deletions of bands 2q21 and 2q31 are variably associated with microphthalmia, corneal clouding, cataracts, and Peters anomaly. Measurement of protein C and interleukin-1 (IL-1) did not show a gene dose effect, but the pyogenic infections and low IgA found in this patient may reflect an abnormality of IL-1 not detectable by our methods.

Abnormalities, Multiple↗
PubMed1989

Transcervical chorionic villi sampling: a comparison between the silver cannula and the Portex catheter.

The Portex catheter and the silver cannula are two of the most widely used biopsy devices for chorionic villus sampling. In a prospective randomized study we used these two devices alternatively in 168 women. Significantly more trophoblastic tissue was obtained with the silver cannula than with the Portex catheter (p less than 0.05) while significantly more failures to obtain villus tissue were recorded with the Portex cannula (8/84 with the silver cannula vs. 19/84 with the Portex cannula; p less than 0.05). In 27 cases where use of the device met with failure to obtain chorionic villi after three attempts the other instrument was then used in the same patient (combined group). Four pregnancies aborted spontaneously after the procedure (2.4%). Significantly more complications occurred in the 'combined' group (4/27 vs. 4/168, p less than 0.05). A higher yield of trophoblastic tissue is possible with the silver cannula than with the Portex catheter.

Catheterization↗
PubMed1989

Newly recognized ectrodactyly/deafness syndrome.

A 7-year-old non-Ashkenazi Jewish girl is described having asymmetrical ectrodactyly (split hand and foot deformity), short stature, mental retardation, sensorineural deafness, and abnormal facies. Because this constellation of findings has not been reported previously, the authors believe that this represents a new congenital malformation syndrome, most probably of genetic etiology.

Abnormalities, Multiple↗