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PubMed1979

Genetic and diagnostic considerations in three families with abnormalities of facial expression and congenital urinary obstruction: "The Ochoa syndrome".

Seven patients (4 females, and 3 males) born in unrelated families, one of them consanguineous (first cousins), were affected by peculiar facies and gestures while smiling and crying, and by hydronephrosis, hydroureter and intravesical stenosis of the ureter, abnormal caliber of the urether in the prostatic and membranous portions, urethral valves, abnormal bladder with trabeculation, and diverticula associated with severe hypertrophy of the mucosa with sclerotic changes. The genetic analysis of these families indicates that the condition is probably autosomal dominant, with variable expressivity and incomplete penetrance. The syndrome represents alteration of facial and urinary developmental fields. The peculiar facies allows early recognition of the condition, and this can be helpful for early assessment and treatment, leading perhaps to a better prognosis.

Adolescent↗

PubMed1990

Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988.

This presentation records the early history of the description of the broad thumb-hallux syndrome and attempts to update the current state of knowledge about this syndrome. Information was collected and reviewed on 571 individuals from the world literature, from communications with colleagues and families of affected individuals, and from personal observation. The diagnosis was established in most cases by confirming the concurrence of the constellation of major diagnostic criteria, including broad short terminal phalanges of the thumbs and halluces, with or without angulation deformity; characteristic facial appearance with beaked or straight nose, antimongoloid slant of palpebral fissures, apparent or clinical hypertelorism and grimacing smile; stature and head circumference (OFC) below 50th centile; mental, motor, social, and language retardation; stiff awkward gait; and incomplete or delayed descent of testes in males. Information on associated clinical factors, familial occurrence, and cytogenetic findings is presented.

Abnormalities, Multiple↗

PubMed2003

Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene.

Angelman syndrome (AS) is a neurodevelopmental disorder characterized by mental retardation, speech impairment, ataxia, and happy disposition with frequent smiling. AS results from the loss of expression of a maternal imprinted gene, UBE3A, mapped within 15q11-q13 region, due to different mechanisms: maternal deletion, paternal UPD, imprinting center mutation, and UBE3A mutation. Deletion AS patients may exhibit hypopigmentation of skin, eye, and hair correlating with deletion of P gene localized in the distal part of Prader-Willi (PWS)/AS region. Our patient presented developmental delay, severe mental retardation, absence of speech, outbursts of laughter, microcephaly, ataxia, hyperactivity, seizures, white skin, no retinal pigmentation, and gold yellow hair. His parents were of African ancestry. The SNURF-SNRPN methylation analysis confirmed AS diagnosis and microsatellite studies disclosed deletion with breakpoints in BP2 and BP3. All of the 25 exons and flanking introns of the P gene of the patient, his father, and mother were investigated. The patient is hemizygous for the deleted exon 7 of the P gene derived from his father who is a carrier of the deleted allele. Our patient manifests OCA2 associated with AS due to the loss of the maternal chromosome 15 with the normal P allele, and the paternal deletion in the P gene. As various degrees of hypopigmentation are associated with PWS and AS patients, the study of the P gene in a hemizygous state could contribute to the understanding of its effect on human pigmentation during development and to disclose the presence of modifier pigmentation gene(s) in the PWS/AS region.

Albinism, Oculocutaneous↗

PubMed1990

[Development of nonsteroidal antiandrogens: 4-nitro-3-trifluoromethyldiphenylamines].

For the development of new nonsteroidal antiandrogens a series of 4-nitro-3-trifluoromethyldiphenylamines was synthesized and compounds were tested for their affinities to steroid hormone receptors and for antiandrogenic activities. These compounds were synthesized by reacting 4-nitro-3-trifluoromethylphenylsulfocyanamide-sodium (4) with the corresponding aromatic amines to give the N-(4-nitro-3-trifluoromethylphenylsulfonyl)-N'-phenylguanidines . The crude products were then converted to the desired diphenylamines by Smiles rearrangement and hydrolysis. 2-Hydroxy-4'-nitro-3'-trifluoromethyldiphenylamine (13), which shows a relative binding affinity (RBA) to the androgen receptor (AR) of 6.5% of that of testosterone, exerts a higher affinity than hydroxyflutamide (RBA = 4.5). Shift of the hydroxy-function to position 3 or 4 as well as N-methylation caused a decrease in AR-affinity. Compounds exerting AR-affinity were tested for antiandrogenic activity. Compound 13 showed the best antiandrogenic effect, though less than the well-known antiandrogen flutamide.

Androgen Antagonists↗

PubMed1990

Lateral asymmetry in attention for three-month-old human infants during face-to-face interaction with mother.

A soft grip the size of an adult index finger was placed in the palm of 3-month-old human infants during face-to-face interaction with their mothers. In a between-subjects experiment, half the subjects interacted with mother for 3 min with no grip, which was followed by a 3 min interaction with the grip in the left hand; for the other half, the grip was placed in the right hand in the second condition. A within-subjects experiment compared the grip interaction for 3 min first in one hand and then in the other. The grip did not significantly alter the infant's gaze at mother, smiling, or positive vocalizations. The movements of the hand with the grip were suppressed similarly for left and right hands. Lateral asymmetry was found for looking to the left side when the grip was in the left hand, compared to no lateral preference in looking during any other condition. The results support a model of right-side dominance for attention control in infants.

Attention↗

PubMed1992

Compensation for mobility inequalities between lanes computed from band signals in on-line fluorescence DNA sequencing.

Among on-line fluorescence DNA sequencing systems, the four-lane method exhibits the potential for reporting an erroneous sequence due to nonuniform mobility of the DNA fragments migrating among the four lanes. This error is manifest in phenomenon commonly called smiling. This paper presents a computational algorithm which compensates for the mobility inequalities between lanes using signal data obtained from the shorter DNA fragments forming the faster migrating bands. The program mainly consists of two routines: (i) calculation of calibration coefficients (mobility ratios between lanes), and (ii) examination of the coefficients by applying them to a later domain of the same signals. Both routines are connected with several feed-back branches for recalculation. Homology analysis of final sequences has shown that the accuracy rate is maximized with this algorithm and any ambiguous result can be assigned to the residual error inherent in the band identification method used.

Algorithms↗

PubMed1994

An algorithm for unwarping multitrack electrophoretic gels.

An algorithm is proposed for removing the effect of "frowns" and "smiles" (i.e. warping) from multitrack electrophoretic gels, so that the bands are horizontal and in alignment between tracks. It has been applied to a DNA sequencing autoradiograph, but could equally be applied to other types of gel separation where warping occurs. The algorithm uses a gradient filter to estimate band orientations. These are smoothed and interpolated by robust regression, and integrated to find the unwarping transform. No manual intervention is required.

Algorithms↗

PubMed2005

Analysis of electrophoretic patterns of arbitrarily primed PCR profiling.

We present a mathematical algorithm for the analysis of electrophoretic patterns resulting from arbitrarily primed PCR profiling. The algorithm is based on the established mathematical procedures applied to the analysis of digital images of gel patterns. The algorithm includes (a) transformation of the image into a matrix form, (b) identification of every electrophoretic lane as a set of matrix columns that are further mathematically processed, (c) averaging of matrix columns corresponding to electrophoretic lanes that define lane representatives, (d) elimination of "smiling" bands, (e) solving the problem of a lane offset, and (f) removal of the background. Representation of individual electrophoretic lanes in the form of functions allows interlane comparisons and further mathematical analysis. Direct comparison of selected lanes was obtained by employing correlation analysis. Gel images were those obtained after arbitrarily primed PCR analysis of DNA that underwent damage induced by gamma radiation from a (60)Co source. The applied method proved to be useful for elimination of subjectivity of visual inspection. It offers the possibility to avoid overlooking important differences in case of suboptimal electrophoretic resolution. In addition, higher precision is achieved in the assessment of quantitative differences due to better insight into experimental artifacts. These simple mathematical methods offer an open-type algorithm, i.e., this algorithm enables easy implementation of different parameters that may be useful for other analytical needs.

Algorithms↗

PubMed2006

A new approach for separating low-molecular-weight RNA molecules by staircase electrophoresis in non-sequencing gels.

Low-molecular-weight (LMW) RNA profiles, which include ribosomal and transfer RNA molecules with similar small sizes, are molecular signatures of microorganisms with a great potential in microbial identification. The greatest resolution of these profiles was achieved by staircase electrophoresis in sequencing gels. Nevertheless, this technique is difficult to use because it takes 7 h, the gels have large sizes and it is necessary to heat the system and to recycle the buffer to maintain the denaturing conditions and avoid smile effects. Most available sequencing slabs have no internal temperature control or homogenizing devices, which by contrast are present in some newly designed non-sequencing slabs. Nevertheless, these slabs present two important problems for separating LMW RNA molecules, the size of gels is only 20 cm (instead of 40 cm) and the maximum voltage that can be reached is only 840 V (instead 2400 V). Staircase electrophoresis follows a model in which the external polarization is incrementally modified with a constant time step value. In the present work, we experimentally confirmed that by reducing the time step and increasing the total number of steps a suitable resolution is achieved. Under these conditions, despite the smaller size of the gels and the lower values of the electric field, the intensity reaches higher values than in sequencing gels and the LMW RNA profiles are correctly separated in 5 h. The resolution of these profiles obtained in non-sequencing gels is similar to that obtained in sequencing ones facilitating the analysis of large populations of microorganisms in any laboratory.

Bacteria↗

PubMed2006

Automated protein analysis by online detection of laser-induced fluorescence in slab gels and 3-D geometry gels.

Sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) still remains the most reliable and comprehensive analytical method for the evaluation of protein extracts. However, conventional SDS-PAGE is time-consuming and, thus, unpractical if several tens or hundreds of samples must be examined. We show that SDS-PAGE protein analysis can be automated using slab gel DNA sequencers and compare the instrument's performance with conventional SDS-PAGE in terms of resolution, sensitivity and sample capacity. Labeled protein bands are detected online by laser-induced fluorescence (LIF) and the acquired signals are electronically stored for further processing, avoiding gel staining and scanning. Appropriate software allows immediate display of recorded data and convenient evaluation. The method provides a higher sensitivity and dynamic range than conventional Coomassie-stained gels and the resolution of proteins with different masses is independent of the polyacrylamide concentration. Internal markers can also be used for direct quantification and assignment of the molecular masses. Additionally, we present a novel electrophoresis instrument for the simultaneous separation and online LIF detection of all samples of a microtiterplate in parallel lanes in a 3-D geometry gel cylinder. The specific gel thermostatting concept prevents irregular sample migration (smiling) and improves the reproducibility and comparability of individual separation patterns. In combination with the expected large capacity of 384 or 1,536 samples, this makes the instrument a valuable tool for high-throughput comparative screening applications.

Automation↗

PubMed1994

Results of reconstruction of the facial nerve.

The results of surgical treatment for facial paralysis are still difficult to compare as there is no universal scoring method. The purpose of this communication is to review the results of reconstruction of the extratemporal facial nerve with nerve grafts using our own evaluation system. Fifty-nine patients were operated on during the period 1981-1991. They had lacerations or other trauma to the face which resulted in loss of continuity of the facial nerve or branches. Three groups were considered: (a) 12 patients had injuries involving the trunk and extending up to the main branches of the facial nerve; (b) 32 patients had parotid laceration or contusion on the parotid area with resulting nerve defects extending from a main branch up to distal branches; and (c) 15 patients had injuries on the distal branches: frontal, zygomatic, or mandibular. The sural nerve was used as the graft in all instances. The grafting procedure was performed from three weeks to six months after the trauma. The method of evaluation compares the normal with the paralyzed side. A score is given of 0 (no motion), 1 (weak motion), or 2 (strong motion), for each of six voluntary contractions: forehead, closure of eyelids and lips, traction, elevation, and depression of the lips. The assessment of involuntary mimic actions was done while observing blinking, speaking, smiling, and laughing. Mass movements were scored negatively. The numbers were recorded and the ratio between the paralyzed and normal side gave an estimate of the lack of symmetry.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

PubMed1992

Interactions of parents and nurses with high-risk preterm infants.

The interactions of preterm infants with parents were compared with their interactions with nurses. Twenty-nine high-risk preterm infants who were a part of a larger longitudinal study of behavioral development were observed once weekly from 7 p.m. to 11 p.m. A single observation for each infant that contained a minimum of 2 min of parental care and 2 min of nursing care was selected for analysis. Results showed that nurses and parents provided different types of stimulation with nurses more likely to engage in procedural care and parents more likely to hold, talk to, move, and touch the infants affectionately. Infants showed more sleep-wake transition, large body movements, and jitters when with nurses and more active sleep and more smiles when with parents. Similar differences were found when parents and nurses were just holding or touching the infants, but no differences in infant responses were seen during feeding or changing. Thus, the different infant behavioral responses appeared to result primarily from the different stimulation provided by parents and nurses. Implications of these findings for research and clinical practice are discussed.

Caregivers↗

PubMed1993

Right hemisphere facial expressivity during natural conversation.

Most studies of facial expressivity in patients with focal brain lesions have examined the ability to produce emotional expression in laboratory settings using various experimental paradigms. In this study, we compared facial expressivity in right hemisphere damaged patients (RHD), left hemisphere damaged patients (LHD), and normal controls (NHD) during videotaped semistructured interviews with the patient and spouse in their home. Three research assistants rated 120 10-sec segments of videotape per patient on a 7-point expressivity scale. We found that RHD patients showed reduced facial expressivity in comparison to both LHD and NHD subjects during spontaneous conversation. In particular, RHD patients demonstrated significantly less smiling and laughter than LHD patients and normal controls. These findings were not a general feature of communicative competence in RHD patients as discourse production equaled that of normal controls. These results support the hypothesis that the right hemisphere mediates facial expressivity during spontaneous social interaction.

Aged↗

PubMed1993

Perception of human chimeric faces by chimpanzees: evidence for a right hemisphere advantage.

The aim of this study was to investigate hemispheric advantages in the processing of human chimeric faces by chimpanzees using a free-vision task developed by Levy, Heller, Banich, and Burton (1983a). Subjects were taught a visual discrimination in which they were to select the human face that appeared "happiest" when paired with its neutral counterpart. After reaching criterion, chimeric faces were substituted as test trials, and the face the subjects selected was recorded. On 62% of the trials, three chimpanzee subjects selected the face in which the smiling half fell in the left hemispatial field. Familiarity factors appear to have accounted for some of the observed findings. We believe this is the first evidence for hemispheric advantages in the perception of human faces by great apes.

Animals↗

PubMed1997

Language experience and right hemisphere tasks: the effects of scanning habits and multilingualism.

This study explores the effects of multilingualism and reading scanning habits on right hemisphere (RH) abilities. Native Hebrew speakers and Arabic-Hebrew bilinguals performed three tasks. Experiment 1 employed an odd/even decision paradigm on lateralized displays of bar graphs. Both groups of subjects displayed the expected LVFA within the range previously reported for readers of English. Experiment 2 consisted of a chair identification task designed to tap asymmetry of hemispheric arousal and a chimeric face task designed to tap RH specialization for facial emotion. Neither scanning habits nor language experience affected performance on the chair task. Scanning habits seem to have affected performance on the chimeric faces task: there was no preference for the left smile in these right-to-left readers, as opposed to previous results in the literature using left-to-right readers. Correlations between measures from the three tasks and all the subject's scores on an English proficiency test and on a Hebrew test for the bilinguals reveal tentative relationships between proficiency in a second language and RH abilities. The results do not support the hypothesis that multilingualism can affect the manner in which these nonlanguage tasks are subserved by the RH. They do support the hypothesis that scanning habits particular to specific languages can affect performance asymmetries on some nonlanguage tasks that have been posited to reflect RH specialization.

Adult↗

PubMed1993

Inversion and configuration of faces.

If the mouth and eyes of a face are inverted, the altered construction appears grotesque when upright, but not when upside-down. Three studies of this "Thatcher illusion" employed faces that were grotesque when upright because: (a) their eyes and mouths had been inverted ("Thatcherized" faces), (b) their eyes and mouths had been moved (spatially distorted faces), or (c) they had grotesque posed expressions. Inversion reduced the apparent grotesqueness of both Thatcherized and spatially distorted faces, but not grotesque-expression faces. Moreover, Thatcherized and distorted faces, although not grotesque-expression faces, were judged as more similar to normal, smiling faces when face-pairs were inverted than when they were upright. Similarity ratings to inverted face-pairs were correlated with latencies of response to these pairs in a task that encouraged attention to components (e.g., mouths, eyes) rather than wholistic properties. Similarity ratings to upright face-pairs showed no such correlation, and this and other findings suggested that although similarity ratings to upright faces are based on wholistic information, similarity ratings to inverted faces are based largely on components. The Thatcher illusion reflects a disruption of encoding of wholistic information when faces are inverted.

Adult↗

PubMed1995

Hormones, sex, and status in women.

Androgens are often associated with assertive behavior; under what circumstances is this reflected in higher dominance rank? In this study of coresidential college women, androgens (total testosterone, free testosterone, and androstenedione) and estradiol were positively correlated with high self-regard in women (as measured by the degree to which subjects over-ranked themselves in a peer-ranking task) and with infrequent smiling, a behavior that has been associated with dominance in previous studies. Androgens and estradiol were also positively correlated with number of sexual partners. The behaviors engendered by these hormones are often positively correlated with high dominance rank, at least in males. In this population, however, high rank (as judged by peer assessments) was negatively correlated with androgens, particularly androstenedione, and showed a negative trend with estradiol as well. One possible interpretation of these findings is suggested by an evolutionary perspective that sees different routes to status among women who compete for resources directly and women who obtain resources through investing males.

Adult↗

PubMed1996

Clinical aspects of ACE inhibition in patients with acute myocardial infarction.

The purpose of the present article was to review the current evidence on the use of angiotensin-converting enzyme (ACE) inhibitors in acute myocardial infarction (MI). This article is based on published information as well as on our personal experience derived from an extensive analysis of the SMILE study. All the randomized trials have been included irrespective of the primary endpoint, and the results are presented in terms of either hemodynamic or clinical benefit. Short- and long-term treatment with ACE inhibitors in patients with acute MI results in a significant reduction in mortality, which is more evident in high risk patients (i.e., patients with left ventricular dysfunction, congestive heart failure on admission, or anterior myocardial infarction). Development and progression of congestive heart failure after myocardial infarction was significantly reduced by ACE inhibition, which also reduced the rate of reinfarction, the need for revascularization procedures, as well as the occurrence of ventricular arrhythmias, probably through a mechanism involving some drug-dependent effects. In conclusion, the available data strongly support a wide benefit associated with the use of ACE inhibitors in patients with high-risk acute MI.

Angiotensin-Converting Enzyme Inhibitors↗