Dental findings in an adult with Lowe's syndrome

This paper describes the dental findings and care of a Chinese adult affected with oculo-cerebro-renal syndrome--Lowe's syndrome--a rare, X-linked recessive disorder, whose clinical manifestations include cataracts, mental retardation, and renal tubular dysfunction. Approximately 150 cases have been reported in the last 45 years. Little has been reported in the dental literature. This patient is described with particular reference to the dental findings, which include gross periodontal disease with severe bone loss, impaction of teeth in the permanent dentition, taurodontism, and underdevelopment of the maxilla and mandible. Dental treatment was aimed at arresting the periodontal disease and preserving the remaining dentition.     

Dysostosis enchondralis polyepiphysaria in 2 pairs of sisters from different families

This is Part I of a study whose purpose is two-fold, that is, to arrive at a classification of diseases under investigation according to their responsiveness to acupuncture therapy, and to discuss and identify the most effective loci for the diseases investigated. In Part I of this study, over 500 patients afflicted with hyperthyroidism, trigeminal neuralgia or intercostal neuralgia were treated with acupuncture therapy. The results of the treatment, together with the selection of acupuncture loci and the techniques of needle manipulation are reported in detail. Over 80% of the patients were found to have made excellent improvement. The three diseases are therefore classified as diseases on which acupuncture therapy yields excellent results.     

Social functioning among girls with fragile X or Turner syndrome and their sisters

Social behaviors among two genetically homogeneous groups--girls with fragile X (fraX) or Turner syndrome (TS)--were examined to address the role of family environment versus biological determinants of social dysfunction in girls with these disorders. Using a sibling pair design, girls with fraX or TS were compared with their own sisters on measures of IQ and social functioning. The 8 girls with fraX and the 9 girls with TS had lower FSIQ scores and higher ratings of social and attention problems relative to their own sisters. Girls with fraX also had higher ratings of withdrawn behaviors, relative to their own sisters. The unaffected sisters were not rated as demonstrating any difficulties in these areas, relative to controls. Correlations between problem ratings and FSIQ were not statistically significant. Although these preliminary findings do not indicate a lack of familial impact on social development in girls with either disorder, the results provide preliminary evidence that social dysfunction reported for girls with fraX or TS cannot be attributed solely, nor primarily, to global aspects of the family environment.     

Twin sisters with impetigo herpetiformis

Impetigo herpetiformis is a rare and serious pustular eruption resembling pustular psoriasis that mostly occurs in pregnant women. The etiology of the disease is unclear and it is not known if genetic factors play a role. We present two sisters (twins) with impetigo herpetiformis supporting an inheritance pattern.     

Carcinoma of the lung in three brothers and two sisters

SETTING: Patients were recruited from Siriraj, Bamrasnaradura, and Central Chest Hospitals, the three major hospitals responsible for tuberculosis patients in Bangkok, Thailand, and vicinity. OBJECTIVE: To evaluate a new rapid serologic test, the MycoDot test, for diagnosis of tuberculosis (TB). DESIGN: The study was conducted as a cross-sectional survey. A total of 594 patients were tested with the MycoDot test. This included 142 human immunodeficiency virus (HIV) seropositive patients with active TB, 144 HIV seronegative patients with active TB, 153 HIV seropositive controls, and 155 HIV seronegative controls. RESULTS: The sensitivity of the MycoDot test for detection of TB was 40.1% in HIV seropositive patients, compared with 63.2% in HIV seronegative patients (P < 0.001). If only patients with laboratory proven TB were evaluated, the sensitivity was 40.6% in seropositive and in 70.8% seronegative patients. The sensitivity of the MycoDot test was similar in TB patients with pulmonary and extra-pulmonary disease. The sensitivity of the test in patients with CD4 counts > or = 200 cells/mm3 was significantly higher than in those with CD4 counts < 200 cells/mm3. The specificity of the test was 97.4%, and was identical in HIV seropositive and seronegative individuals. CONCLUSION: The MycoDot test had a higher sensitivity for the diagnosis of TB among HIV seronegative than HIV seropositive patients. Although the MycoDot test has a less than optimal sensitivity, the test specificity approaches 100%. It may be useful in patients with suspected TB and negative smears and in extra-pulmonary TB.     

Evolution of ophthalmic and electrophysiological findings in identical twin sisters with the carbohydrate deficient glycoprotein syndrome type 1 over a period of 14 years

AIMS: To evaluate the evolution of ocular and electroretinographic findings in identical twin sisters with the carbohydrate deficient glycoprotein (CDG) syndrome over a period of 14 years. METHODS: Both girls underwent a clinical ophthalmic examination with funduscopy and an electrophysiological assessment with recording of flash electroretinogram (FERG) at the age of 4 years and 18 years RESULTS: On ophthalmic examination at the age of 4 years an alternating convergent squint and a saccadic pursuit was diagnosed. In both, vision was 6/9 bilaterally. Fundus examination showed normal optic discs, narrow blood vessels, and a mild irregular pigmentation in the periphery. In one girl the FERG showed a recognisable a, b1, and b2-wave with reduced amplitude to less than 40% of the normal. In the other girl the reduction in amplitude was still more obvious, but for the white flash a small b1-wave was still present. At the age of 18 vision had remained 6/9 in both eyes. Funduscopy showed pink optic discs, moderately narrowed blood vessels, and bony spicule pigmentary deposits in the mid periphery. The adapto ERG, performed in identical conditions at 18 years of age, showed a completely extinguished trace for both eyes. CONCLUSIONS: Despite progressive deterioration of ERG findings good central vision was preserved over 14 years.     

Death of a sibling: five sisters, five stories

The sudden, unexpected death of a child is likely to have profound and enduring implications for surviving siblings. In this article, stories from five sisters are presented to demonstrate how children's experiences of and responses to the death of a sibling can vary greatly, even within the same family. Each child creates his or her own reality, and this "unique" definition of reality influences the child's behavior. Giving children a chance to "tell their stories" may help nurses and other professionals to understand the meanings and values that are guiding how children respond following the unexpected death of a sibling.     

Mixed psychosocial outcomes of sisters from families with alcoholic parents

To examine intrafamilial differences in adulthood among children of alcoholic parents, 14 women with alcoholic parents and their sisters were assessed for this exploratory study. Reported here is the subset of eight "mixed" sister pairs, one with an impaired adult outcome and the other with a well-adjusted adult outcome. Subjects who scored significantly worse than community norms on depressed mood or social supports or who had a psychiatric diagnosis including substance abuse were categorized as impaired, while the remaining women were categorized as well-adjusted. Both qualitative and quantitative data were collected using a questionnaire and a structured interview. Results showed similarities between the impaired and well-adjusted sisters on individual characteristics, with few differences on characteristics of the parental alcoholism. The most marked differences showed the impaired sisters to score worse than their well-adjusted sisters on characteristics of the home environment and social supports. The impaired women were also more likely to have been physically abused in childhood and to rate the effect of having an alcoholic parent as more negative than the well-adjusted women. Unanticipated findings relating to incest, talents, denial, and racial differences, and their implications for clinicians and researchers, are discussed.     

Malignant cutaneous melanoma associated with neurofibromatosis in two sisters from a family with familial atypical multiple mole melanoma syndrome. Case reports and review of the literature

Two cases of malignant melanoma associated with neurofibromatosis in two first-degree female relatives from a family with familial atypical multiple mole melanoma (FAMMM) syndrome are presented. The types of neurofibromatosis and the FAMMM syndrome are discussed in relation to these cases and the family genealogic tree. Although the FAMMM syndrome could probably be seen as the underlying disease in the current cases, review of literature has failed to establish a clear relation. Research into pigmentary disturbance in neurofibromatosis is necessary to give a final explanation. To our knowledge, this is the first report in literature describing the familial occurrence of both diseases and it might present an addition to the tumor spectrum in the FAMMM syndrome.     

Ophthalmologic findings in Usher syndrome type 2A

Thirty-seven patients, comprising 24 familial cases and 13 isolated patients with Usher syndrome type II (USH2), underwent ophthalmologic examination. Based on the degree of hearing loss, normal vestibular function, and gene-linkage analysis, familial cases were assumed to have USH2A. An analysis of genetic heterogeneity failed to reveal the presence of a second locus in the Dutch population. Although the patients appear to belong to a genetically homogeneous group, remarkable ophthalmologic variability was found. Corrected visual acuity decreased with age and remarkable differences in visual acuity were found within one family. Fundoscopic findings were classified as type A if attenuated vessels and bone corpuscles in all quadrants were found or as type B if findings other than these were found. The prevalence of type A significantly increased with age.     

Physiopathological study in 2 cases of Bartter's syndrome

Batter's syndrome is characterized by retardation in growth pitressin-resistant hypostenuria, hypokalemic alkalosis, high activity of the jux angiotensin-renine-aldosterone system with normal blood pressure; vascular insensibility to angiotensin and hypertrophy and hyperplasia of the juxtaglomerular apparatus. In both patients we studied, we found negative balance of sodium and potassium conditioned to a renal loss of them.     

Carney's syndrome: 2 new cases

The association of gastric leiomyoblastomas, pulmonary chondromas and extra-adrenal paragangliomas has been called "Carney's Triad" since 1977. It is incomplete when only two of these lesions are present. 42 cases has been published. We report observations of two young women with gastric leiomyoblastomas and pulmonary chondromas; one of them also had an adrenocortical adenoma.     

2 cases of bulbar-subbulbar syndrome with axial signs of Opalski syndrome

Some neurons of the anterior lateral-line lobe of dogfish (Scyliorhinus) have synapse-bearing perikarya enclosed by layers of compact myelin. The identity of these cells, which have myelinated axons and unmyelinated, synapse-bearing dendrites, is unknown.