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At least 775 records · Page 43Linked to original sources
PubMed1992

Cutaneous findings in a new syndrome of autosomal recessive ectodermal dysplasia with corkscrew hairs.

BACKGROUND: The association of hair shaft abnormalities with the phenotypic findings of a new, distinct form of an autosomal recessive syndrome of ectodermal dysplasia was present in 27 patients from seven families. OBJECTIVE: Our purpose was to present the cutaneous findings that characterize this syndrome with particular attention given to the hair shaft abnormalities. METHODS: Multiple field visits were used to gather data on phenotypic findings and prospectively evaluate their prevalence. RESULTS: Corkscrew hair, an exaggeration of pili torti, represents the most striking feature of this syndrome. Prominent cutaneous findings include scalp keloids, follicular plugging, keratosis pilaris, xerosis, eczema, palmoplantar keratodermia, cutaneous syndactyly, onychodysplasia, and conjunctival neovascularization. Other features include typical facies, anteverted pinnae, malar hypoplasia, cleft lip and palate, and dental abnormalities. CONCLUSION: A syndrome characterized by pili torti and corkscrew hairs, previously reported in only one patient, can be recognized.

Adolescent↗
PubMed1993

Generalized eruptive keratoacanthoma of Grzybowski.

A patient with generalized eruptive keratoacanthoma of Grzybowski is described. Our findings, along with those of the 21 reported cases from the world literature, are summarized. This rare variant of keratoacanthoma most commonly affects patients in the fifth to seventh decades of life and appears as a generalized eruption of hundreds to thousands of follicular papules. These small papules often have a keratotic center and demonstrate the microscopic features of keratoacanthoma. Marked facial involvement is characteristic and can lead to masked facies with ectropion. Severe pruritus, mucosal lesions, and koebnerization are features of the disease. The course is chronic and the response to therapy is poor, although a few patients have improved with the use of systemic retinoids.

Adult↗
PubMed1993

Prolidase deficiency: a multisystemic hereditary disorder.

Prolidase deficiency is a rare hereditary disorder with a wide spectrum of clinical manifestations including skin ulcers, eczematous eruptions, characteristic facies, mental retardation, splenomegaly, and susceptibility to infections. We report two new cases of prolidase deficiency. Our patients had the typical manifestations of prolidase deficiency. One also had lupus erythematosus. Prolidase activity was either normal or half-normal in all family members. The skin disease in our patients did not respond to topical glycine/proline ointment or to oral vitamin C.

Adolescent↗
PubMedDate not supplied

Ossicular abnormality in Larsen's syndrome: a case report.

Larsen's syndrome consists of a skeletal dysplasia with multiple joint abnormalities and a characteristic facies. No reports of this syndrome have documented hearing loss due to ossicular joint abnormalities. A 6-year-old girl is presented with the characteristic abnormalities of Larsen's syndrome, a normal otoscopic examination, and significant bilateral conductive hearing loss. Exploratory tympanotomy demonstrated an incudostapedial joint abnormality, as well as a fixed stapes footplate. The possibility of ossicular joint abnormalities, in addition to the other joint abnormalities associated with this syndrome, must be considered.

Child↗
PubMed1984

Pain and the ethics of pain management.

In this article I clarify the concepts of 'pain', 'suffering', 'pains of body', 'pains of soul'. I explore the relevance of an ethic to the clinical setting which gives patients a strong prima facie right to freedom from unnecessary and unwanted pain and which places upon medical professionals two concomitant moral obligations to patients. First, there is the duty not to inflict pain and suffering beyond what is necessary for effective diagnosis, treatment and research. Next, there is the duty to do all that can be done to relieve all the pain and suffering which can be alleviated. I develop in some detail that individuality of pain sensitivity must be taken into account in fulfilling these obligations. I explore the issue of the relevance of informed consent and the right to refuse treatment to the matter of pain relief. And I raise the question of what conditions, if any, should override the right to refuse treatment where pain relief is of paramount concern.

Attitude of Health Personnel↗
PubMed1995

AIDS and injecting drug use in the United Kingdom, 1987-1993: the policy response and the prevention of the epidemic.

This paper assesses policy development, service changes and trends in HIV infection and risk behavior among injecting drug users (IDUs) in the United Kingdom. In 1986, the U.K. was faced with the possible rapid spread of HIV infection among IDUs. The combination of an outbreak of HIV infection with prevalence levels of 50% or more in Edinburgh, the recent diffusion of drug injecting, and high levels of syringe-sharing risk behaviour, suggested that HIV infection might spread rapidly through IDU populations. HIV prevention activities commenced in 1986 and developed in 1987. The first report on AIDS and Drugs Misuse by the Advisory Council on the Misuse of Drugs in 1988 was a major catalyst for change. It supported and legitimized emergent views on new ways of working with drug users. Between 1988 and 1993 innovative public health projects increased the ability to target vulnerable populations through syringe distribution, expansion of methadone treatment and outreach to hard-to-reach populations. There were major changes in service philosophy and practices, as ideas of harm minimization, accessibility, flexibility and multiple and intermediate goals were developed. There is evidence that these public health projects encouraged extensive changes in the health behaviour of IDUs. There have been major reductions in syringe-sharing risk behaviour and sharing syringes is no longer the norm. Evaluation of specific interventions (e.g. syringe-exchange) shows their importance in encouraging reductions in risk behaviour. Levels of HIV infection in IDUs remain low by international standards. Outside of London rates of about 1% have been reported; London has a low and declining prevalence of infection to around 7% in 1993; previous high levels in Edinburgh (55%) have since declined to 20%. Britain has to date avoided the rapid increase in HIV infection among injectors that has occurred in many parts of the world. The same period saw the continuation of high prevalence levels in New York and many European cities, and the explosive spread of HIV in many countries in south-east Asia. This paper acknowledges the difficulties is proving links between social interventions and epidemic prevention. It argues that there is prima facie evidence for the success of public health prevention, that the collection of intervention approaches in the U.K. had a significant impact on IDUs behaviour, and that this has helped prevent an epidemic of HIV infection among IDUs. The U.K. experience adds to the growing evidence of the significance of early interventions in encouraging behaviour change and in limiting the spread of HIV infection.

Acquired Immunodeficiency Syndrome↗
PubMed1985

Inertial force as a possible factor in mitosis.

Some previous studies of cell division have suggested that chromosome movements in mitosis involve two distinct forces: one which pulls chromosomes poleward by means of attached fibers, and another which tends to push chromosome arms away from the pole. The latter force may also be a factor in non-chromosomal spindle transport, by which objects other than chromosomes are transported toward or away from spindle poles. Based on a survey of previous literature, this paper makes a prima facie case for describing this latter force as "inertial", since in some respects it can be simulated by centrifugation. A theoretical analysis demonstrates that an inertial force could arise in the spindle from postulated high-frequency, small-amplitude oscillations, which could be caused by changes in coherently processing electron spin alignments at the spindle poles. Some possible experimental approaches to the problem are briefly outlined.

Biophysical Phenomena↗
PubMed1991

Immune response: self-foreignness.

The classical basic concept of the immune system as a defence system per se and immunological surveillance against neoplasia have never been satisfactorily verified experimentally. The reason for this lies in the historic development of immunology in terms of observations of infectious disease and the interpretation of those observations. Thus, based on a complete lack of understanding of immune events, immunization procedures were developed by Pasteur and his contemporaries. The success of some of these immunization methods, influenced by culture and philosophical thoughts, and based on prima facie evidence allowed the next conceptual step to be taken, culminating in the immune surveillance hypothesis. Central to this hypothesis is selection and tolerance to self-antigens. However, immune reactions to self-antigens are evident and clonal selection is not viable because the number of clones required increases as the frequency of chance of a cell belonging to a particular clone decreases. Also, circadian rhythms in the immune response have not been taken into account. In addition, the problems of haemocytopoiesis have not been addressed, in that it is possible for B-lymphocytes to become terminal macrophages and T-lymphocytes to become mast cells, eosinophils and/or basophils constituting 'dead end' cells in an immune response. The initiation of the immune response begins with a tissue-specific T-lymphocyte being stimulated and undergoes replication. This gives rise to a dual functional helper/suppressor cell and a B-lymphocyte. These basic concepts explain the necessity for auto-reactive lymphocytes, that is the autologous mixed lymphocyte reaction (AMR). The AMR is a natural consequence of having tissue-specific lymphocytes to monitor plasma membrane aberrations.

Allergy and Immunology↗
PubMed1989

Spectrum of findings in a family with nonsyndromic autosomal dominant supravalvular aortic stenosis: a Doppler echocardiographic study.

Nonsyndromic familial supravalvular aortic stenosis is an autosomal dominant disorder. However, for many reported families, systematic study of all family members with echocardiographic or hemodynamic techniques has not been performed and degree of penetrance has not been assessed. The supravalvular stenosis in these family members usually is not associated with mental retardation or other characteristics of Williams syndrome. Although some believe that autosomal dominant supravalvular aortic stenosis is part of the spectrum of Williams syndrome, others believe that these are separate entities. Doppler echocardiograms were analyzed on 23 members of a 34 member family with several known to have supravalvular aortic stenosis; 20 studies were performed by the authors and 3 were done elsewhere and made available for review. No family member had mental retardation, characteristic facies or other findings of Williams syndrome. Three of the 34 had supravalvular aortic stenosis requiring surgery. Of 22 members examined echocardiographically who had not had prior surgical repair, 13 had supravalvular aortic stenosis. Echocardiographic findings ranged widely, from calcification of the ascending aorta in a 71 year old man with minimally increased flow velocity (1.7 m/s) to mild narrowing with mildly increased flow velocity in six members to significant narrowing with impressively increased flow velocity (2 to 4 m/s) in seven. In addition, four patients had mild narrowing of pulmonary artery branches and eight had peak pulmonary artery flow velocity above normal. This study demonstrates complete penetrance with extremely variable expression in this family with autosomal dominant supravalvular aortic stenosis and emphasizes the importance of using echocardiographic techniques in studying the family members who are suspected of having an inherited cardiovascular disease.

Adolescent↗
PubMed1996

Tetralogy of Fallot with pulmonary atresia associated with chromosome 22q11 deletion.

OBJECTIVES: The purpose of this study was to clarify characteristics of tetralogy of Fallot and pulmonary atresia associated with chromosome 22q11 deletion. BACKGROUND: DiGeorge syndrome and conotruncal anomaly facies syndrome are associated with chromosome 22q11 deletion (hemizygosity). Associated cardiac anomalies include tetralogy of Fallot, truncus arteriosus and interrupted aortic arch. METHODS: Twenty-three patients with tetralogy of Fallot and pulmonary atresia were proved to have chromosome 22q11 deletion with fluorescent in situ hybridization using N25 probe (Oncor). Cardiovascular anomalies were compared with those in 26 patients with tetralogy of Fallot and pulmonary atresia without the deletion. Cardiovascular anomalies were studied with cardiac catheterization, cineangiography and echocardiography. RESULTS: In patients with 22q11 deletion, additional anomalies of the aortic arch, ductus arteriosus and pulmonary artery were more common as follows: right aortic arch (70% with deletion vs. 23% without deletion), high aortic arch reaching third rib (43% vs. 15%), aberrant left subclavian artery (35% vs. 0%), absent ductus arteriosus (83% vs. 46%), major aortopulmonary collateral arteries (91% vs. 50%), absent confluent central pulmonary arteries (48% vs. 4%). CONCLUSIONS: In patients with tetralogy of Fallot and pulmonary atresia, additional anomalies of the aortic arch, ductus arteriosus and pulmonary arteries are more common in patients with than in those without the 22q11 deletion.

Abnormalities, Multiple↗
PubMedDate not supplied

Infantile sialic acid storage disease associated with renal disease.

A child with infantile sialic acid storage disease is reported. Ultrasonography demonstrated fetal ascites. At birth, the infant appeared hydropic and presented with numerous dysmorphic features, including sparse white hair, coarse facies, hypertelorism, epicanthal folds, anteverted nostrils, and a long philtrum. In addition, he had visceromegaly, bilateral inguinal hernias, and a slight gibbus deformity. Lymphocytes were vacuolated and bone marrow contained large numbers of foam cells. There were generalized vacuolations of both reticuloendothelial and parenchymal cells in the examined tissues. Neuropathologic studies revealed wide-spread neuronal storage, myelin loss, axonal spheroids, and gliosis. Neurons, endothelial cells, and Kupffer cells stained with wheat germ agglutinin indicated an accumulation of sialic acid. Free sialic acid was significantly increased in urine and serum, as well as in liver, heart, and brain tissues. The alpha-neuraminidase activity was normal. It is assumed that the basic defect of infantile sialic acid storage disease lies in impaired transport of sialic acid across the lysosomal membrane.

Brain↗
PubMedDate not supplied

Sjögren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD+ oxidoreductase activity.

We report a boy and girl with a "new" multiple congenital anomalies/mental retardation syndrome which resemblances Sjögren-Larsson syndrome. Both patients had a concordant pattern of anomalies consisting of congenital lamellar ichthyosis with spontaneous improvement, moderate mental retardation, mild pyramidal involvement, telecanthus, flat facies, stubby long bones, and coxa valga. Severe myopia, ventriculoseptal defect, and postaxial polydactyly were present in the girl who had more severe bone involvement with dense, enlarged metaphyses, vertebral dysplasia, and advanced skeletal maturation of the lower limbs. Long-chain fatty alcohol NAD+ oxidoreductase (FAO) and steroid sulfatase were normal.

Alcohol Oxidoreductases↗
PubMedDate not supplied

Pallister-Killian syndrome in older children and adolescents.

The Pallister-Killian syndrome is caused by a mosaic tetrasomy of the short arm of chromosome 12. Although analysis of peripheral blood lymphocytes usually reveals a normal karyotype, an isochromosome 12p mosaicism is detectable in fibroblast cultures; therefore, in this rare chromosomal aberration, clinical recognition is crucial for appropriate cytogenetic investigations. The phenotype of younger children has already been well documented. During childhood and adolescence, however, the phenotype changes markedly. The disorder in older children and young adults is characterized by a coarse and flat facies, macroglossia prognathia, everted lower lip, and severe psychomotor retardation with muscular hypertonia and contractures. Two severely mentally retarded patients are reported whose diagnoses were confirmed by fibroblast cultures at ages 16 and 21 years.

Abnormalities, Multiple↗
PubMed1995

A case against subtyping in schizophrenia.

In this paper we consider the generally accepted view that schizophrenia is 'heterogeneous'. We point out that the view derives from prima facie evidence from clinical presentation, studies of course, and factor analysis. However, upon closer examination internal contradictions are apparent, e.g., subtypes change, different groupings of symptoms cooccur in the same individual. Another type of paradigm, depending on careful study of case controls (e.g., monozygotic twins discordant for schizophrenia) and distributions, indicates that abnormalities in neurocognition, regional cerebral blood flow, and regional neuroanatomy may be present in nearly every patient, irrespective of absolute level or diagnostic subtype. These results suggest that a simple model in which patients vary along a severity dimension might parsimoniously explain much of the variance. Thus, while it is possible and even probable that schizophrenia may have many etiologies, phenocopies may represent the expression of a unitary pathogenesis of greater or lesser impact.

Case-Control Studies↗
PubMed1996

Anesthetic implications of Larsen syndrome.

In this article I present two children with Larsen syndrome who required anesthetic care during surgical procedures of the ear-nose-throat (ENT) region. The anesthetic implications of this disorder are discussed. Larsen syndrome consists of multiple joint dislocations and a characteristic facies. Associated orthopedic abnormalities include cervical spine vertebral body hypoplasia and hemivertebrae, which may lead to cervical kyphosis and compromise of cervical cord function. Of prime importance to the anesthesiologist are the associated defects of the airway including laryngotracheomalacia, which may predispose the patient to perioperative respiratory compromise. Associated cardiac defects have also been described including atrial and ventricular septal defects.

Adolescent↗
PubMed1993

The right to refuse treatment--an ethical case study.

Every day throughout the UK medical professionals working within Intensive Therapy Units (ITUs) are faced with the ethical dilemma of whether it is right to withhold extraordinary treatments from patients. Within this case study an ethical dilemma arises from the question: 'Is it morally sound to treat this patient who, we knew, would have refused our care had he been able to give a written legally binding request not to receive extraordinary medical therapy?' This paper concentrates on the ethical decision-making process and seeking to find a solution to an everyday dilemma within moral philosophy. Personal and professional values and the prima facie principle of non-maleficence within which the doctrine of ordinary and extraordinary means, the doctrine of double effect and the slippery slope argument are discussed in their context relevant to an ITU situation. The nurse's role as patient advocate is addressed as the case study highlights the difficulties encountered in fulfilling this responsibility. It is hoped that the issues raised will help in clarifying how a real ethical dilemma for all the ITU team can be addressed and so help others faced with similar dilemmas. The decision-makers within this dilemma were the patient, family, and the ITU multidisciplinary team. The term extraordinary treatment is understood within biomedical ethics to encompass all medicines, therapies, and operations, which cannot be obtained or used without excessive expense, pain or other physical inconvenience, or which, if used, would not offer a reasonable hope of benefit.

Critical Care↗
PubMedDate not supplied

Down syndrome: clinical profile from India.

BACKGROUND: Our objective was to study demographic features, clinical features, and karyotype analyses of patients with Down syndrome (DS). Our study design was a retrospective analysis, while the study was conducted in the Genetic Clinic of a tertiary-care teaching hospital. METHODS: Retrospective analysis of cases referred to the Genetic Clinic was performed. Case proformas of the patients presenting with phenotypic features of DS were analyzed. The following information was recorded from the proformas: age at presentation; sex; maternal age; craniofacial and other physical features; presence and type of congenital heart disease; gastrointestinal abnormalities, and results of cytogenetic evaluation. Clinical features in neonates with DS were separately analyzed. RESULTS: Analysis included cases of DS presenting over a period of 7.5 years; a total of 524 patients were studied (303 males and 221 females; M:F ratio 1.37:1). Average age at presentation was 19.4 months (range: 1 day-26 years). Average maternal age at birth of the affected child was 26.8 years (range: 16-45 years). Craniofacial features noted in >50% of the cases included mongoloid slant (83.9%), ear abnormalities (66.9%), epicanthic folds (56.9%), and flat facial profile (50.9%). A total of 76.3% cases had hypotonia. Characteristic limb and dermatoglyphic anomalies were seen in less than one half of cases. These included sandle sign (46.2%), unilateral or bilateral simian crease (33.2%), clinodactyly (36.1%), and brachydactyly (11.1%). Ophthalmologic abnormalities included hypertelorism (33.9%), nystagmus (3.2%), Brushfield spots (3.2%), squint (2.7%), and cataracts (1.9%). Congenital heart disease was clinically diagnosed in 96 cases (18.3%). The nature of the cardiac defect was ascertained by color Doppler examination and/or 2D-echocardiography in 58 cases. The most common cardiac anomalies were ventricular septal defect (25.8%), tetralogy of Fallot (15.5%), and atrial septal defect (12.1%). Gastrointestinal anomalies were noted in seven cases and included three cases with imperforate anus, two with Hirschsprung disease, and one each with duodenal atresia and Morgagni hernia. Results of cytogenetic abnormalities were available in 42.2%. Free trisomy (non-dysjunction) was present in 95%, 3.2% had translocation, and 1.8% were mosaics. In neonates, common features noted were mongoloid slant, ear abnormalities, flat facial profile, hypotonia, sandle sign, and clinodactyly+/-brachydactyly. CONCLUSIONS: All characteristic craniofacial and physical features of DS need not be present in every case. Major features noted in the present study were mongoloid slant, ear abnormalities, epicanthic folds, flat facies, and hypotonia. Congenital heart disease was present in 18.3% of cases, with ventricular septal defect being the most common type of defect. Non-dysjunction was the most common cause of the chromosomal anomaly.

Adolescent↗
PubMed2006

A novel splicing mutation of the ATRX gene in ATR-X syndrome.

X-linked alpha-thalassemia/mental retardation syndrome (ATR-X, MIM#301040) is an X-linked recessive condition affecting males. ATR-X is characterized by severe mental retardation, mild HbH disease, dysmorphic facies, and genital and skeletal abnormalities. ATR-X is caused by mutations in the ATRX gene. Most mutations affect two functionally important domains, the ADD domain and the helicase domain. Here, we report on two brothers with the ATR-X phenotype without HbH disease; both had a mutation in the 5' upstream region of the ADD domain of the ATRX gene. This mutation was a G to T nucleotide substitution at the 3' end of exon 5 and resulted in splicing out of exons 5 and 6. Analysis of cDNA structure may clarify genotype-phenotype correlations in ATR-X because splicing mutation could be detectable only by cDNA analysis.

Adolescent↗