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PubMed2005

Bodily integrity and male and female circumcision.

This paper explores the ambiguous notion of bodily integrity, focusing on male and female circumcision. In the empirical part of the study we describe and analyse the various meanings that are given to the notion of bodily integrity by people in their daily lives. In the philosophical part we distinguish (1) between a person-oriented and a body-oriented approach and (2) between four levels of interpretation, i.e. bodily integrity conceived of as a biological wholeness, an experiential wholeness, an intact wholeness, and as an inviolable wholeness. We argue that bodily integrity is a prima facie principle in its own right, closely connected with, but still fundamentally different from, the principle of personal autonomy, that is, autonomy over the body.

Circumcision, Female↗
PubMed2006

On Heidegger, medicine, and the modernity of modern medical technology.

This paper examines medicine's use of technology in a manner from a standpoint inspired by Heidegger's thinking on technology. In the first part of the paper, I shall suggest an interpretation of Heidegger's thinking on the topic, and attempt to show why he associates modern technology with danger. However, I shall also claim that there is little evidence that medicine's appropriation of modern technology is dangerous in Heidegger's sense, although there is no prima facie reason why it mightn't be. The explanation for this, I claim, is ethical. There is an initial attraction to the thought that Heidegger's thought echoes Kantian moral thinking, but I shall dismiss this. Instead, I shall suggest that the considerations that make modern technology dangerous for Heidegger are simply not in the character - the ethos - of medicine properly understood. This is because there is a distinction to be drawn between chronological and historical modernity, and that even up-to-date medicine, empowered by technology, retains in its ethos crucial aspects of a historically pre-modern understanding of technology. A large part of the latter half of the paper will be concerned with explaining the difference.

Biomedical Technology↗
PubMed2006

Noonan syndrome and related disorders: alterations in growth and puberty.

Noonan syndrome is a relatively common multiple malformation syndrome with characteristic facies, short stature and congenital heart disease, most commonly pulmonary stenosis (Noonan, Clin Pediatr, 33:548-555, 1994). Recently, a mutation in the PTPN11 gene (Tartaglia, Mehler, Goldberg, Zampino, Brunner, Kremer et al., Nat Genet, 29:465-468, 2001) was found to be present in about 50% of individuals with Noonan syndrome. The phenotype noted in Noonan syndrome is also found in a number of other syndromes which include LEOPARD (Gorlin, Anderson, Blaw, Am J Dis Child, 17:652-662, 1969), Cardio-facio-cutaneous syndrome (Reynolds, Neri, Hermann, Blumberg, Coldwell, Miles et al., Am J Med Genet, 28:413-427, 1986) and Costello syndrome (Hennekam, Am J Med Genet, 117C(1):42-48, 2003). All three of these syndromes share similar cardiac defects and all have postnatal short stature. Very recently, HRAS mutations (Aoki, Niihori, Kawame, Kurosawa, Ohashi, Tanaka et al., Nat Genet, 37:1038-1040, 2005) have been found in the Costello syndrome and germline mutations in KRAS and BRAF genes (Rodriguez-Viciana, Tetsu, Tidyman, Estep, Conger, Santa Cruz et al., Nat Genet, 2006; Niihori, Aoki, Narumi, Neri, Cave, Verloes et al., Nat Genet, 38:294-296, 2006) in the Cardio-facio-cutaneous syndrome. Phenotypic overlap between these genetic disorders can now be explained since each is caused by germline mutations that are major components of the RAS-MAPK pathway. This pathway plays an important role in growth factor and cytokine signaling as well as cancer pathogenesis.

Abnormalities, Multiple↗
PubMed2000

The Medical Research Council's approach to allegations of scientific misconduct.

The UK's Medical Research Council (MRC) introduced a specific policy and procedure for inquiring into allegations of scientific misconduct in December 1997; previously cases had been considered under normal disciplinary procedures. The policy formally covers staff employed in MRC units, but those in receipt of MRC grants in universities and elsewhere are expected to operate under similar policies. The MRC's approach is stepwise: preliminary action; assessment to establish prima facie evidence of misconduct; formal investigation; sanctions; and appeal. Strict time limits apply at all stages. The procedure will be evaluated after two years. The indications so far are that the procedure is robust, and its clarity and transparency have been an asset to all parties. The MRC is also convinced that it is equally important to achieve a working culture that fosters integrity. Thus education and training in good research practices are fundamental to the prevention of research misconduct.

Biomedical Research↗
PubMed1976

Clinical manifestations of mannosidosis--a longitudinal study.

Mannosidosis is a partially defined disorder of glycoprotein metabolism; less than 20 cases have been reported in the literature. In this work, a longitudinal study of five new patients is presented in an attempt to delineate the phenotype and clinical course of this unusual storage disease. The data on our patients and those in the literature indicate that people with mannosidosis appear normal at birth and that their typical phenotype develops by two years of age. This is characterized by a distinctive coarse facies and dysostosis multiplex. Although recurrent infections, hearing loss and mental retardation occur, the course in this storage disorder generally is stable and is compatible with adult life. The diagnosis is confirmed by the presence of a deficiency in alpha-D-mannosidase activity in leukocytes or fibroblasts, by the presence of vacuolated lymphocytes in peripheral blood and foam cells in bone marrow, and an increased excretion of mannose-rich oligosaccharides in urine.

Adolescent↗
PubMed1979

Intermittent Cushing's disease.

Described here is a young woman with intermittent Cushing's disease associated with psychotic disturbance. On five occasions, over a period of four years, she became severely depressed and had acne, amenorrhea, hirsuties and moon facies. On each of the first four occasions the symptoms lasted from two to three months and disappeared spontaneously. Biochemical investigations, including plasma ACTH estimations during the last two episodes, indicated that the adrenocortical overactivity was pituitary-dependent. During the fifth relapse the patient experienced a very severe, depressive psychosis, necessitating bilateral adrenalectomy, which resulted in complete remission.

Adrenalectomy↗
PubMed1992

Hydrops fetalis associated with congenital myotonic dystrophy.

We report a case of congenital myotonic dystrophy in a newborn infant who presented with hydrops fatalis. Clinical features were hypotonia, generalized edema, pleural effusion, respiratory distress, scalp hematomas, and tented mouth facies. Review of literature shows that congenital myotonic dystrophy is not a rare cause of nonimmune hydrops fetalis as previously thought.

Female↗
PubMed1992

Brachial plexus palsy: an old problem revisited.

OBJECTIVES: It is an almost assumption in obstetric literature that brachial palsy is due to extreme lateral traction on the fetal head during the last phase of delivery. In contrast, there have been reports in the neurologic literature of probable intrauterine origin of brachial plexus palsy. Data to dispute or support the latter view were sought. STUDY DESIGN: With this overview in mind, our perinatal data base was searched for all instances of shoulder dystocia and independently for all diagnoses of brachial plexus impairment. RESULTS: Seventeen instances of brachial plexus impairment associated with shoulder dystocia were found. Twenty-two instances of brachial plexus impairment without mention of shoulder dystocia were ascertained. The characteristics of the two groups were remarkably different, especially in birth weight and in maternal age and parity. CONCLUSIONS: The data are strongly suggestive that intrauterine maladaptation may play a role in brachial plexus impairment. Brachial plexus impairment should not be taken as prima facie evidence of birth process injury.

Birth Weight↗
PubMed1975

A new mucolipidosis with psychomotor retardation, corneal clouding, and retinal degeneration.

A 23-year-old man had slow psychomotor development at 6 months of age and developed intermittent corneal clouding at about 18 months. He developed a truncal ataxia and hypotonia of the limbs combined with spasticity and active deep reflexes that did not progress. His skeleton and facies were normal. Between 1 and 13 years of age, he developed severe optic atrophy, absence of retinal blood vessels, and an extinguished electroretinogram. Biochemical analysis of cultured fibroblasts indicated no lysosomal hydrolase deficiency; cellular metachromasia was absent and there was no mucopolysaccharidoses. Ultrastructural studies indicated single-membrane-limited vacuoles containing lamellated membranes and a polymorphous substance in tissue-cultured cells and conjunctiva.

Adolescent↗
PubMed1977

Sclerocornea associated with the Smith-Lemli-Opitz syndrome.

A 2,000-g infant boy had many features of the Smith-Lemli-Opitz syndrome (prenatal growth deficiency and developmental retardation, microcephaly with unusual facies, hypospadias, and feeding difficulties) as well as sclerocornea. The association of this rare eye finding with this rare congenital syndrome is unique. Successful penetrating keratoplasty was performed in one eye at 8 months of age.

Abnormalities, Multiple↗
PubMed1981

Cryptophthalmos syndrome with bilateral renal agenesis.

We conducted a postmortem study of an infant with the abortive form of the cryptophthalmos syndrome. He had syndactyly and anal atresia and also showed features of Potter's (renal nonfunction) syndrome, including bilateral renal agenesis, pulmonary hypoplasia, and the typical facies. Histopathologic examination of both globes disclosed that the superior eyelid folds were partially replaced by skin that fused with the superior third of each cornea; there were also anomalies of the superior canaliculi and scarring of the corneas. We found no specific abnormality of the intraocular contents.

Abnormalities, Multiple↗
PubMed1979

A cephalometric study of the craniofacial skeleton in trichorhinophalangeal syndrome.

A prominent feature of the trichorhinophalangeal syndrome is a very characteristic facies. This study quantitates differences in craniofacial skeleton between affected and unaffected members of the same kindred. Standard scores for various measurements taken from lateral cephalometric radiographs were compared for statistical significance, and these were further correlated with similar data calculated from length measurements of the middle phalanx of the second digit. The affected group had a shortened posterior face height (p less than 0.01) associated with a short mandibular ramus (p less than 0.01) as well as a reduced and superiorly deflected posterior cranial base (p less than 0.01). These craniofacial changes result in a steep inclination of the lower border of the mandible (p less than 0.01) and suggest disturbances in the epiphyseal growth sites of the skull as demonstrated by a high degree of correlation between the dysplasia of the cranial base, shortening of the posterior portion of the face, and shortening of the middle phalanx of the second digit.

Adolescent↗
PubMed1986

Bifocal wearing and VDU operation: A review and graphical analysis.

There has been a lack of expert guidance regarding the visual capabilities of VDU operators who wear bifocal spectacles. The authors have developed a general framework as a basis for analysing the problem. A schematic diagram has been constructed which facilitates the integration of the variables of lens dimensions, range of clear vision and a standard VDU workstation. The analysis of the diagram established that the majority of bifocal wearers are able to operate a VDU efficiently without special optical considerations. However, a prima facie case was found to exist for some VDU operators wearing bifocal spectacles and experiencing problems. These operators are most likely over 50 years of age, usually over 55 years of age and, in principle, comprise a small proportion of the workforce. Vocational prescribing for this group must be viewed sympathetically in order to avoid the increased risk of bodily injury.

Journal Article↗
PubMed1991

Three-year follow-up of older schizophrenics: extrapyramidal syndromes, psychiatric symptoms, and ventricular brain ratio.

Longitudinal evaluation of psychiatric patients often yields information that cross-sectional study does not. We previously examined 31 older (age greater than 55) chronic schizophrenics for prevalence of extrapyramidal side effects, severity of psychiatric symptoms, and ventricular brain ratio (VBR). We reexamined 22 of these patients after 2-4 years. Tardive dyskinesia (TD) and drug-induced parkinsonism (DIP) were common (mean prevalences were 52% and 62%, respectively) and often occurred together (38%). The overall prevalences of the disorders did not change significantly with time, although there was some individual fluctuation in diagnosis. Severity of TD was constant, but severity of DIP decreased, probably because neuroleptic doses were significantly decreased. Magnitude of DIP was positively correlated with VBR and severity of negative symptoms of schizophrenia. The correlation of DIP and negative symptoms occurred primarily because of the similarity between masked facies and blunted affect. VBR did not change over the follow-up period. Negative symptoms of schizophrenia were prevalent, moderately severe, and quite stable over time in this cohort. Positive symptoms were less severe but highly variable between examinations.

Antipsychotic Agents↗
PubMed1975

The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis).

Numerous synonyms have been used to describe syndromes affecting structures derived from the first and second branchial arches. These conditions are most conveniently grouped into the asymmetrical anomalies of hemifacial microsomia and the symmetrical syndrome of mandibulofacial dysostosis. By examination of animal models of these conditions it can be demonstrated that the pathogenesis is distinct but different for each group. The characteristic facies of mandibulofacial dysostosis suggests a mechanism of malformation which operates early in embryogenesis, acting uniformly on parts which are derived from neural crest cells. In the serial examination of a phenocopy of mandibulofacial dysostosis, induced in the rat by the teratogen vitamin A, focal death of pre-otic neural crest cells is observed to occur, creating both a spatial rearrangement of the developing ears and a paucity of ectomesenchyme in the first and second branchial arches. The result of these deviations from normal morphogenesis is the development of a facial skeleton which is symmetrical but distinctly different in form from that in the normal animal. Microscopic study of the induced ear and jaw defects revealed that the animal model was closely comparable in all respects to human mandibulofacial dysostosis. The specific nature of the interaction between teratogen and migrating neural crest cells is not yet clear; nor is it known whether these cells are attacked before or after their specific destination is determined. The greater part of the damage is inflicted in a general fashion and leads to symmetrical abnormal development. Minor examples of dyssymmetry do occur, however, in the animal model and man, but these are compatible with the hypothesis of a pathogenetic mechanism which is initiated centrally and symmetrically but modified locally at a later stage. A description of the pathogenesis of these two conditions, scientific predictions can be made with respect to the timing and technique of reconstruction of the orofacial defects, and the effects of surgery on growth and development.

Abnormalities, Multiple↗
PubMed1994

REE chemistry and Sm-Nd systematics of late Archean weathering profiles in the Fortescue Group, Western Australia.

Two weathering profiles, each consisting of an upper, sericite-rich zone and a lower, chlorite-rich zone, are preserved between flows of the Mt. Roe Basalt in the Fortescue Group, Hamersley Basin, Western Australia. REE concentrations in samples from these two profiles, which originally developed ca 2,760 Ma, show large variations depending on stratigraphic position. LREE abundances and (La/Yb)N are greatest at depths of 3-6 m below the paleosurface of the Mt. Roe #1 profile and are somewhat lower in samples above this level. The LREEs reach concentrations 6-9 times greater than in the underlying basalt, and thus appear to have been mobilized downward in the paleosol and concentrated in its middle part. LREE concentrations in the #2 profile show a similar distribution but with a sharp increase in all REE concentrations within 50 cm of the paleosurface. The distinction between the REE profiles in the two paleosols may be related to the difference in the overlying material. The #1 paleosol is overlain by a few meters of sediments and then by basalt, whereas the #2 paleosol is directly overlain by basalt. The LREEs appear to have been mobilized both during chemical weathering of the parental basalt and during later lower-greenschist-facies metamorphism and metasomatism of the paleosols. Remobilization of the REEs during the regional metamorphism of the Fortescue Group is confirmed by a whole-rock Sm-Nd reference isochron of Mt. Roe #1 samples with an age of 2,151 +/- 360 Ma. Variable initial 143Nd/144Nd values of unweathered basalt samples which may represent the paleosol protolith prevents a confident determination of the magnitude of LREE mobility. Both the initial mobilization of the REEs during weathering and the metasomatic remobilization appear to have taken place under redox conditions where Ce was present dominantly as Ce3+, because Ce anomalies are not developed within the sericite zone samples regardless of concentration. Europium anomalies in the paleoweathering profile are somewhat variable and were probably modified by mobilization of Eu2+ at metamorphic conditions. In all samples, the HREEs appear to have been relatively immobile and correlate with Al, Ti, Cr, V, Zr, and Nb. Sm-Nd systematics and REE patterns of four unweathered basalt samples indicate derivation of the Mt. Roe Basalts from a heterogeneous and enriched source having epsilon Nd between -4.0 and -7.4. Initial 143Nd/144Nd values of these basalts are even lower than those reported by NELSON et al. (1992) for Fortescue Group basalts and indicate a substantial crustal component in the generation of Mt. Roe Basalts.

Atmosphere↗
PubMed1993

Language and development in FG syndrome with callosal agenesis.

The FG syndrome is characterized by unusual facies, sudden infant death, developmental delay, and abnormalities of the cardiac, gastrointestinal, and central nervous systems. No longitudinal data on development in surviving patients are currently available. Serial evaluations of a patient with FG syndrome, whose sole central nervous system anomaly was agenesis of the corpus callosum, showed a consistent pattern over time. Specific language impairments in syntactic and pragmatic-semantic areas are emerging. These findings represent the first detailed data on which expectations for children with the FG syndrome can be based. The findings also fit theoretical constructs on the function of the corpus callosum and may therefore be generalized to provide expectations for other patients with isolated agenesis of the corpus callosum. Given the information gained from this case, it is clear that language intervention/consultation should be a pivotal service for such children, and that the speech-language pathologist should play a role in the development of an integrated educational services plan.

Abnormalities, Multiple↗
PubMed1991

Sirenomelia in an identical twin: a case report.

Sirenomelia, or the mermaid syndrome, is the most extreme example of the caudal regression syndrome. It invariably presents with lower limb fusion, sacral and pelvic bony anomalies, absent external genitalia, anal imperforation, and renal agenesis or dysgenesis. Because of the resultant oligohydramnios, these infants most often have Potter's facies and pulmonary hypoplasia. There are approximately 300 cases reported in the literature, 15% of which are associated with twinning, most often monozygotic. The syndrome of caudal regression is thought to be the result of injury to the caudal mesoderm early in gestation. It has been suggested that the association of the most extreme form of caudal regression, sirenomelia, with monozygotic twinning may represent developmental arrest of the primitive streak, with creation of a second primitive streak that gives rise to the usually normal twin. The embryology of the various presentations of the caudal regression syndrome may be further delineated by studying infants with this dramatic and fatal syndrome.

Diseases in Twins↗