bluuebunny/crossref_metadata_2025 huggingface dataset:
Dermatoglyphic and cytogenetic studies in parents of children with trisomy 21
Authors: Schmidt Rina , Dar Hanna , Nitowsky Harold M.
Published: July 2010

Dermatoglyphic studies were carried out on 131 mothers and 95 fathers of children with Down syndrome and 200 controls (100 males and 100 females) using the Hopkins single score method. Twelve percent of the mothers and 2 % of the fathers showed dermatoglyphic abnormalities including a distal axial triradius (t“), hypothenar ulnar loops, radial loops on digits IV and V and abnormal palmar creases, resulting in a positive Hopkins score or a score in the “overlapping range” (greater than –3). The origin of the extra chromosome could be determined in 23 of a total group of 40 families. In 22 of the former, the mother was the donor of the extra chromosome; in one it was the father. In these 23 families, a Hopkins score in the overlapping range was found in three mothers who were all under the age of 35 years at the birth of the affected child. Since cytogenetic studies cannot easily differentiate between meiotic nondisjunction and mosaicism as a basis for 21 trisomy in the progeny, it is possible that mothers with positive overlapping Hopkins scores represent undetected mosaics for a trisomic cell line. The dual approach utilizing dermatoglyphic and cytogenetic studies may aid in identifying persons with an enhanced risk for having children with Down syndrome.
X‐linked mental retardation, growth retardation, deafness and micro‐genitalism. A second familial report
Authors: Mattei J. F. , Collignon P. , Ayme S. , Giraud F.
Published: July 2010

The association of X‐linked mental retardation with growth retardation, deafness and microgenitalism in a second family confirms the existence of a new syndrome.
Triploidy, partial mole and dispermy. An investigation of 12 cases
Authors: Procter Susan E. , Gray Elizabeth S. , Watt Jessie L.
Published: July 2010

Twelve triploid abortuses were investigated to determine the origin of the additional haploid set and were retrospectively examined for the development of partial hydatidiform mole. Eight out of ten suitable triploids were diagnosed as partial mole. Dispermy was indicated as the cause of triploidy in 6 informative cases of which 3 were also partial moles. However, one diandric triploid had no features of partial mole. The problem of maternal cell contamination in triploids and the difficulty of diagnosing partial moles on pathological grounds alone are discussed.
Germinal mosaicism in Apert syndrome
Authors: Allanson Judith E.
Published: July 2010

Two sisters with Apert acrocephalosyndactyly syndrome born to normal unrelated parents are described. Paternity studies show that the probability of paternity is 99.3%. This report appears to represent the first known example of germinal mosaicism in Apert syndrome.
Psychological aspects of amniocentesis: anxiety feelings in three different risk groups
Authors: Evers‐Kiebooms G. , Swerts A. , van den Berghe H.
Published: July 2010

A review of the literature about parents' experiences with amniocentesis is given in the first part of this paper. In the second part the results of a follow‐up study in Belgium are presented. Three groups of women who had amniocentesis performed because of advanced maternal age, a previous child with Down syndrome or a previous child with neural tube defect, respectively, were interviewed at home about their experiences. Anxiety feelings were different between groups but also showed considerable variation within each group. The overall psychological evaluation of the procedure was positive, so that the majority of the women would opt for amniocentesis in a subsequent pregnancy and would recommend it to others. Later follow‐up contact by mailed questionnaire revealed that almost all women elected for their subsequent pregnancies to be monitored by amniocentesis.
DNA polymorphism at the locus for human cholesteryl ester transfer protein (CETP) is associated with high density lipoprotein cholesterol and apolipoprotein levels
Authors: Kondo Ikuko , Berg Kåre , Drayna Dennis , Lawn Richard
Published: July 2010

Cholesteryl ester transfer protein (CETP) is a protein involved in “reverse cholesterol transport” and it could play an important role in facilitating the removal of cholesteryl esters from peripheral tissues for transport to the liver or for transfer of cholesterol between plasma lipoprotein particles. Both functions may be relevant to susceptibility or resistance to atherosclerotic disease. We have studied 149 and 146 unrelated persons, respectively, for the A and B polymorphism at the CETP locus detectable with the restriction enzyme Taql. The B system is by far the more polymorphic. A search for association with risk or “anti‐risk” factor levels was conducted with the following quantitative parameters: total cholesterol, HDL cholesterol, triglycerides, apolipoprotein AI (apoA‐I), apolipoprotein B (apoB) and Lp(a) lipoprotein levels. Highly significant differences in apoA‐I concentration were found between the two categories of homozygotes in the B polymorphism. The association observed remained significant after multiplying the p value by the number of quantitative parameters used for the association tests. There was a dosage effect on the apoA‐I level of genes in the B polymorphism. We conclude that the associations observed are likely to reflect true biological phenomena. The effect of CETP genes appeared to be limited to non‐smokers.
Brief clinical report: a 46,XY phenotypic female with Smith‐Lemli‐Opitz syndrome
Authors: Lachman Mary F. , Wright Yvonne , Whiteman David A. H. , Herson Victor , Greenstein Robert M.
Published: July 2010

A phenotypic female infant with Smith‐Lemli‐Opitz (SLO) syndrome was found to have a 46,XY karyotype. Autopsy showed normal testes for age and normal Wolffian duct structures. The serum testosterone level was unusually high, suggesting that the failure of virilization of the external genitalia in the child might be due to a defect in testosterone conversion to dihydrotestosterone or a lack of end‐organ receptors for the same. An additional feature not previously described in association with SLO syndrome was present, which was clinical hypoglycemia with nesidioblastosis.
Congenital cutis laxa with ligamentous laxity and delayed development, Dandy‐Walker malformation and minor heart and osseous defects
Authors: Biver Armand , De Rijcke Sabine , Toppet Veronique , Ledoux‐Gorbusier Marguerite , Van Maldergem Lionel
Published: July 2010

We present a female infant exhibiting congenital cutis laxa with retardation of growth and motor development, ligamentous laxity and congenital dislocation of the hips. This connective tissue disorder was associated with Dandy‐Walker malformation, atrial and ventricular defect and minor bone abnormalities including multiple wormian bones, abnormal tubulation of long bones and absent twelfth pair of ribs. This association is believed to be unique.
An epidemiological/genetic study of mental subnormality in Assiut Governorate, Egypt
Authors: Temtamy S. A. , Kandil M. R. , Demerdash A. M. , Hassan W. A. , Meguid N. A. , Afifi H. H.
Published: July 2010

The aim of this investigation was to study the epidemiologic and genetic aspects of mental subnormality (MS) in Assiut Governorate, representing the Egyptian population. The sample comprised 3000 randomly selected subjects from three localities: one urban (Assiut City) and two adjacent rural villages. Age‐matched controls were chosen for comparison. The Stanford‐Binet test was administered to each individual. During history‐taking special attention was paid to consanguinity and categorization on a genetic basis. The results revealed 116 cases with MS, showing an overall prevalence of 3.9%, which varied in the three locations: 3.4% in Assiut City, and 3.8% and 4.4% in the two rural locations. Clinico‐genetic classification revealed the following: idiopathic MS 27.6%, MCA/MR syndromes 24.1%, primary CNS defect 12.9%, Martin‐Bell syndrome 10.3%, inborn errors of metabolism 9.5%, tetratogenic and environmental causes 5.2%, MS and epilepsy 4.3%, chromosomal disorders 3.4% and MS associated with psychiatric disorder 2.6%. Parental consanguinity was found in 65% of the total sample, which emphasizes the role played by that factor in the etiology of mental subnormality in Egypt.
High frequency of new mutations in North Indian Duchenne/Becker muscular dystrophy patients
Authors: Sinha S. , Mishra S. , Singh V. , Mittal R. D. , Mittal B.
Published: July 2010

Accurate carrier determination is an important aspect in providing prenatal diagnosis and genetic counselling to families with Duchenne/Becker muscular dystrophy patients. Using quantitative polymerase chain reaction, we have analyzed the carrier status of 31 mothers (8 familial and 23 sporadic) who have an affected son with known deletion in the dystrophin gene. Only four out of 23 mothers of sporadic cases turned out to be heterozygous for the deleted exons. The lower number of carrier mothers in sporadic cases suggests a higher frequency of new mutations in North Indian DMD/BMD patients.
Carrier identification of X‐linked adrenoleukodystrophy by measurement of very long chain fatty acids and lignoceric acid oxidation
Authors: Inoue Kyoko , Suzuki Yasuyuki , Yajima Shigehiro , Shimozawa Nobuyuki , Tomatsu Shunji , Orii Tadao , Kondo Naomi
Published: July 2010

Because identification of carriers of X‐linked adrenoleukodystrophy (ALD) results in 5–15% false negatives with very long chain fatty acids (VLCFA) assay in plasma, and mutation analysis of the ALD gene is not always practical, we studied whether the analysis of plasma VLCFA combined with lignoceric acid oxidation study in fibroblasts could improve the rate of carrier detection. Lignoceric acid oxidation was abnormal in 19 out of 19 patients (ALD or adrenomyeloneuropathy) and in three out of three obligate heterozygous women. Among ten women at risk of being a carrier, three women who had normal plasma VLCFA had abnormal lignoceric acid oxidation in fibroblasts. These data suggest that this combined biochemical procedure may help to improve carrier detection in families when the ALD gene mutation has not been identified.
VSD, hypospadias and normal psychomotor development in a patient with inv dup 8(q13‐q21.2)
Authors: Giltay Jacques C. , Bokma Jan A. , de France Henny , Beemer Frits A.
Published: July 2010

This paper describes a patient with a de novo inverted duplication of chromosome 8(q13‐q21.2). He was bora with a ventricular septum defect, glandular hypospadias and protruding ears. At the age of 5 1/2 years he had normal psychomotor development. Review of the literature on partial duplications of 8q reveals that the associated phenotype may be mild. Normal psychomotor development, as in our patient, however appears to be uncommon.
Aortic root dilatation in Ehlers‐Danlos syndrome types I, II and III A report of five cases
Authors: Tiller George E. , Cassidy Suzanne B. , Wensel Christine , Wenstrup Richard J.
Published: July 2010

We have identified five families in whom individuals affected with the Ehlers‐Danlos syndrome (EDS) types I, II or III had aortic root dilatation (ARD). All propositi had a low upper/lower segment ratio but no other diagnostic skeletal or ocular features of Marfan syndrome. Their skin had the soft, velvety texture characteristic of EDS and all had significant joint laxity. Probands included a 4‐year‐old girl with EDS type I, 4‐and 8‐year‐old girls with EDS type HI, a 35‐year‐old male with EDS type II, and a 51‐year‐old female with EDS type III. Review of these cases suggests the need for multicenter clinical studies in order to determine the prevalence and the rate of progression of ARD in EDS types I, II, and III. Such studies are necessary to determine whether echocardiograms (including measurement of aortic root diameter) should be considered on initial evaluation of all patients with mild forms of EDS.
Congenital bilateral absence of vas deferens with a new missense mutation (P499A) in the CFTR gene
Authors: Arduino C. , Ferrone M. , Brusco A. , Garnerone S. , Fontana D. , Rolle L. , Carbonara AO
Published: July 2010

We describe a congenital bilateral absence of the vas deferens (CBAVD) patient with a compound heterozygosity in the cystic fibrosis transmembrane regulator (CFTR) gene for a stop mutation W1282X and a new missense mutation P499A. The P499A is interpreted as a mild mutation whose phenotypic effects, in this case limited to the development of wolffian duct derivatives, are revealed only in combination with a severe CFTR mutation.
Photoanthropometric study of craniofacial traits in individuals with Prader‐Willi syndrome on short‐term growth hormone therapy
Authors: Butler Merlin G , Hovis Christopher L , Angulo Moris A
Published: July 2010

An objective photoanthropometric method, useful for delineating craniofacial characteristics, was performed on 20 individuals with Prader‐Willi syndrome (PWS; 14 males and 6 females) under 12 years of age and on growth hormone therapy (e.g. for 3–12 months) to determine the effects of therapy on craniofacial features in PWS. Facial parameters were measured from strict frontal and profile photographic 35 mm slides and compared with other facial measurements from the same face (e.g. palpebral fissure width to bizygomatic diameter). We studied 16 photoanthropometric craniofacial indices following previously established protocols. Our photoanthropometric data on 20 PWS subjects meeting diagnostic criteria further supported previous findings of a high midface, a broad interalar distance, a prominent high chin and broad ears in PWS patients without growth hormone therapy. In addition, while on growth hormone therapy, the high midface, broad interalar distance and prominent high chin appeared to accentuate over time in relationship to untreated PWS patients. Conversely, broad appearing ears were not accentuated by growth hormone therapy in the PWS subjects analyzed in this study.
Mutation screening of the LDLR gene and ApoB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay
Authors: Nissen Henrik , Lestavel Sophie , Hansen Torben Stiig , Luc Gérald , Bruckert Eric , Clavey Veronique
Published: July 2010

Mutations in the LDL receptor (LDLR) or the apolipoprotein B‐100 genes causing familial hypercholesterolemia (FH) and familial defective apolipoprotein B‐100 (FDB), two of the most frequent inherited diseases, are the underlying genetic defects in a small proportion of patients suffering from premature atherosclerotic heart disease.

Consequently, secure diagnostic tools for these conditions allowing early preventive measures are needed. Since clinical and biochemical diagnosis often is inaccurate, assays analyzing patient LDLR function and LDL affinity have been established. These assays are, however, not able clearly to differentiate between suspected FH/FDB samples and normal controls. To evaluate if this may be caused by other hitherto undescribed genetic defects or to failure of the functional assays, we undertook denaturing gradient gel electrophoresis based mutation screening of the LDLR gene and the codon 3456–3553 region of the apolipoprotein B gene in six French FH/FDB patients with normal outcomes on functional assays. In all six patients, pathogenic LDLR mutations were found, including three previously undescribed mutations, suggesting that failure of the functional assays explains the normal results found in some phenotypic FH/FDB patients and illustrating the need for DNA based screening techniques for routine genetic diagnosis in FH/FDB.
Prevalence of homozygosity for the deleted alleles of glutathione S‐transferase mu (GSTMl) and theta (GSTTl) among distinct ethnic groutx from Brazil: relevance to enviromental carcinogenesis?
Authors: Anuda Valder R. , Grignolli Carlos E. , Gonqalves Marilda S. , Soares Manoel C. , Menezes Raimundo , Saad Sara TO , Costa Fernando F.
Published: July 2010

Arruda VR, Grignolli CE, Goncalves MS, Soares MC, Menezes R, Saad STO, Costa FF. Prevalence of homozygosity for the deleted alleles of glutathione S‐transferase mu (GSTMl) and theta (GSTTl) among distinct ethnic groups from Brazil: relevance to enviromental carcinogenesis? Clin Genet 1998: 54: 210–214. 0 Munksgaard, 1998

Environmental related diseases due to occupational carcinogens and toxic substances are a serious problem particularly in developing countries. The glutathione S‐transferase system is fundamental for the detoxification of numerous carcinogens and mutagens. The individual inherited susceptibility to chemical carcinogenesis due to glutathione S‐transferase mu (GSTMl) and theta (GSTTl) varies significantly among distinct ethnic groups. In this study we determined the prevalence of the null genotype of the GSTMl and GSTTl genes among individuals from three distinct Brazilian racial groups using a multi‐plex‐PCR methodology. The results showed that the highest prevalence of the null genotype for the GSTMl occurred among Caucasians (55%, allele frequency = 0.74), followed by 33% among Brazilian Black subjects (allele frequency = 0.57). and 20% among Amazonian Indians (allele frequency = 0.45). For GSTTl a homogenous distribution of the null genotype was found among Caucasian and African descendants (18.5 and 19% homozygotes, respectively, allele. frequency = 0.43). with a lower prevalence among Amazonian Indians (11% of homozygotes, a!lele frequency = 0.34). Whether the deficiency of the GST system contributes to a predisposition to environmental related carcinogenesis in specific popuiations in Brazil remains to be determined.
Microscopy of the Koala Mandibular (Submandibular) Glands
Authors: Krause W. J.
Published: July 2010

With 7 figures

Koala mandibular (submandibular) glands are compound tubuloacinar glands, the secretory units of which consist only of serous cells. Intercellular canaliculi occur between the serous cells, which are continuous with a minute lumen that courses through the centre of each secretory unit. Intercalated ducts are abundant and join striated ducts, the latter being characterized by elaborate basolateral infoldings of the plasmalemma. Secretory granules within the serous cells fail to stain with either the PAS or Alcian Blue (pH 2.5) staining procedures. Ultrastructurally, the secretory granules are membrane bound, and consist of a homogeneous electron lucent material with a fine filamentous texture. The granules tend to coalesce into irregular shaped complexes of secretory material. Discharge of secretory material into the canalicular lumen is a common observation.
Plesiomorphic Escape Decisions in Cryptic Horned Lizards (Phrynosoma) Having Highly Derived Antipredatory Defenses
Authors: Cooper Jr William E. , Sherbrooke Wade C.
Published: July 2010

Escape theory predicts that the probability of fleeing and flight initiation distance (predator–prey distance when escape begins) increase as predation risk increases and decrease as escape cost increases. These factors may apply even to highly cryptic species that sometimes must flee. Horned lizards (Phrynosoma) rely on crypsis because of coloration, flattened body form, and lateral fringe scales that reduce detectability. At close range they sometimes squirt blood‐containing noxious substances and defend themselves with cranial spines. These antipredatory traits are highly derived, but little is known about the escape behavior of horned lizards. Of particular interest is whether their escape decisions bear the same relationships to predation risk and opportunity costs of escaping as in typical prey lacking such derived defenses. We investigated the effects of repeated attack and direction of predator turning on P. cornutum and of opportunity cost of fleeing during a social encounter in P. modestum. Flight initiation distance was greater for the second of two successive approaches and probability of fleeing decreased as distance between the turning predator and prey increased, but was greater when the predator turned toward than away from a lizard. Flight initiation distance was shorter during social encounters than when lizards were solitary. For all variables studied, risk assessment by horned lizards conforms to the predictions of escape theory and is similar to that in other prey despite their specialized defenses. Our findings show that these specialized, derived defenses coexist with a taxonomically widespread, plesiomorphic method of making escape decisions. They suggest that escape theory based on costs and benefits, as intended, applies very generally, even to highly cryptic prey that have specialized defense mechanisms.
In vitro synergy of pseudolaric acid B and fluconazole against clinical isolates of Candida albicans
Authors: Guo Na , Ling Guanghui , Liang Xiaoying , Jin Jing , Fan Junwen , Qiu Jiazhang , Song Yu , Huang Ning , Wu Xiuping , Wang Xuelin , Deng Xuming , Deng Xuliang , Yu Lu
Published: July 2010

Candida albicans is the most common fungal pathogen in humans. The emergence of resistance to azole antifungals has raised the issue of using such antifungals in combination to optimise therapeutic outcome. The objective of this study was to evaluate in vitro synergy of pseudolaric acid B (PAB) and fluconazole (FLC) against clinical isolates of C. albicans. The in vitro antifungal activity of PAB, a diterpene acid from Pseudolarix kaempferi Gordon, was evaluated alone and in combination with FLC against 22 FLC‐resistant (FLC‐R) and 12 FLC‐susceptible (FLC‐S) C. albicans using the chequerboard microdilution method and time‐killing test assays. Synergism was observed in all 22 (100%) FLC‐R strains tested as determined by both fractional inhibitory concentration index (FICI) with values ranging from 0.02 to 0.13 and bliss independence (BI) models. Synergism was observed in two of 12 (17%) FLC‐S strains as determined by FICI model with values ranging from 0.25 to 0.5 and in three of 12 (18%) FLC‐S strains as determined by BI model. For FLC‐R strains, the drug concentrations of FLC and PAB, where synergistic interactions were found, ranged from 0.06 to 4 μg ml−1 and 0.5 to 4 μg ml−1 respectively. For FLC‐S strains, the drug concentrations of FLC and PAB were 1–8 μg ml−1 and 0.5–4 μg ml−1 respectively. The BI model gave results consistent with FICI, but no antagonistic activity was observed in any of the strains tested. These interactions between PAB and FLC were confirmed using the time‐killing test for the selected strains. Fluconazole and PAB exhibited a good synergism against azole‐R isolates of C. albicans.
Pneumococci: immunology of the innate host response
Authors: PATERSON Gavin K. , ORIHUELA Carlos J.
Published: July 2010

Despite the development of vaccines and antibiotics, Streptococcus pneumoniae (the pneumococcus) continues to be a major cause of human morbidity and mortality throughout the world. In recent years our understanding of how the host innate immune system recognizes and responds to pneumococcal infection has advanced significantly. Herein, we highlight some of the key features of the innate response to the pneumococcus.
OFFICIAL APOLOGIES IN THE AFTERMATH OF POLITICAL VIOLENCE
Authors: VERDEJA ERNESTO
Published: July 2010

Abstract: This article examines the uses of official apologies for massive human rights abuses in the context of democratic transitions. It sketches a normative model of apologies, highlighting how they serve to provide some moral and practical redress for past wrongs. It discusses a number of contributions apologies can make, including publicly confirming the status of victims as moral agents, fostering public reexamination and deliberation about social norms, and promoting critical understandings of history that undermine apologist historical accounts. The article then presents certain normative criteria that any official apology must satisfy, and concludes with a discussion of several theoretical and practical challenges that apologies face in transitional contexts. It draws on Chilean President Patricio Aylwin's apology for his predecessor's crimes as an illustration of some of the promises and challenges that apologies face.
THE MORAL LEGACY OF COMMUNAL WRONGS: ETHNIC IDENTITY GROUPS AND INTERGENERATIONAL MORAL SENTIMENT
Authors: KOVACH KAREN
Published: July 2010

Abstract: Many individuals experience feelings of collective guilt or shame for the blameworthy historical acts of the nations or ethnic groups to which they belong. I reject the idea that collective moral sentiment rests on inherited moral responsibility. I suggest that the possibilities for individual action inherent in membership in ethnic identity groups can be a source of special moral duties. I argue that collective guilt and shame are moral emotions that individuals experience in response to complex assessments of their groups' histories and of their own practical responses to those histories. The approach I take to analyzing the concept of an ethnic identity group makes use of tools developed by Max Weber. Weber's conceptual work on social groups and related phenomena has been strongly criticized in a widely discussed book by Margaret Gilbert. I show that Gilbert's arguments fail to discredit Weberian analyses of social groups and their properties.
Do negative CCT and CSF findings exclude a subarachnoid haemorrhage? A retrospective analysis of 220 patients with subarachnoid haemorrhage
Authors: Eggers C. , Liu W. , Brinker G. , Fink G. R. , Burghaus L.
Published: July 2010

Objective:  Subarachnoid haemorrhage (SAH) constitutes a neurological emergency. In most cases, the diagnosis is easy to establish; however, in rare cases, verification of the diagnosis is difficult. In this retrospective analysis, we report the clinical characteristics of patients with SAH who were admitted to our neurological intensive care unit. We focus on the additional diagnostic approaches in patients with a high suspicion of SAH but failure of the ‘classic’ diagnostic tools.

Methods:  A retrospective chart review was performed for all patients in whom SAH was diagnosed between 1996 and 2008. Two hundred and twenty patients were analysed for presenting symptoms, radiological and laboratory findings, hospital course and outcome.

Results:  A total of 220 patients were identified (mean age 50.5 years, 127 women). In 217 patients, the diagnosis was based upon cerebral computed tomography (CCT) or lumbar puncture. In three patients, the diagnostic work‐up was continued because of distinct clinical signs even though CCT and cerebrospinal fluid (CSF) were negative for SAH. In these patients, vasospasm was detected by transcranial doppler sonography (TCD) and/or diagnosis of aneurysm was confirmed by conventional angiography.

Conclusion:  Subarachnoid haemorrhage with negative CCT and CSF is a rare presentation of a severe acute neurological emergency. Further diagnostic as TCD/computed tomography (CT)‐A or MR‐A should be considered in all patients with typical clinical presentation for SAH but unremarkable CCT and CSF as an additional diagnostic tool. Ultimately, a conventional angiography should be performed if distinct clinical signs of SAH are presented.
Tortious Liability for Released Detainees
Authors: YOUNGS RAYMOND
Published: July 2010

Abstract: The possibility of early release from custody is a necessary and integral part of the current English system of detention. An applicant for early release has certain rights to contest a refusal, but a victim of a crime by the released detainee is unlikely to have a claim against the institution responsible. If only the crime and not the victim could reasonably have been foreseen, the institution is not civilly liable in negligence, although it might be under misfeasance in public office. But the European Court of Human Rights appears to consider that Article 2 of the Human Rights Convention requires such liability; and a German case allowed it, despite German law having previously taken a position similar to the English law of negligence. It is argued that English law ought to adopt the same approach.
Aromatase inhibitor‐induced skin adverse reactions: exemestane‐related cutaneous vasculitis
Authors: Santoro S , Santini M , Pepe CA , Tognetti E , Cortelazzi C , Ficarelli E , De Panfilis G
Published: July 2010

Background  Three aromatase inhibitors, namely anastrozole, letrozole and exemestane, which reduce circulating oestrogen, are used to treat breast cancer patients; the therapeutic use of such aromatase inhibitors is quickly increasing.

Objective  We intended (i) to review aromatase inhibitor‐induced cutaneous adverse effects and (ii) to describe a recently observed case of cutaneous vasculitis triggered by exemestane.

Patients/methods  The so‐far reported literature cases of aromatase inhibitor‐induced cutaneous adverse effects were analysed retrospectively. Especially, the clinical case of exemestane‐induced cutaneous vasculitis herein reported is unique, because such an observation has not yet been published in the literature.

Results  Merely 12 cases of cutaneous adverse reactions induced by aromatase inhibitors, namely erythema nodosum (6), subacute cutaneous lupus erythematosus (1), cutaneous rashes (2), vasculitis (3, including the one described in this study), are reported in the literature. In fact, in the present case, cutaneous vasculitis was strictly related to exemestane.

Conclusion  As aromatase inhibitors (e.g. exemestane) are increasingly incorporated into the treatment strategy of breast cancer patients, it is important to recognize possible cutaneous adverse effects. Specifically, with regard to cutaneous vasculitis, some patients might progress to severe vasculitis manifestations if the offending drug (e.g. exemestane) is not quickly stopped.
Psychotic disorders in learning disabilities‐ outcome of an audit across community teams
Authors: Varghese Susan , Banerjee Subimal
Published: July 2010

Accessible summary

We studied the medical notes of 28 service users with learning disability who also had a mental illness called psychosis.

We noted which antipsychotic medication (medicines to treat psychosis) was prescribed and whether we enquired for side effects regularly.

We found that we were good at regular monitoring of improvement made by these individuals, and any side effects experienced from the medicines given in most cases. The medicines prescribed were within the recommended dose.

We feel persons with learning disability taking antipsychotic medications should be asked about the benefits and side effects and have regular blood tests and weight checks.

The aim of the audit was to evaluate the current clinical practice for learning‐disabled individuals with psychotic disorders. We evaluated the existing clinical practice in 910 individuals who were under the care of learning disability psychiatrists in Buckinghamshire (population of 480 000). This was compared with the National Institute for Clinical Excellence (NICE) published guidelines on treatment and management of schizophrenia. Twenty‐eight per cent of the patients had a dual diagnosis of psychosis and learning disability; 40% showed moderately severe psychotic symptoms. Oral atypical antipsychotics were the preferred medication of choice. Twenty‐five per cent of the patients were found to be treatment resistant. All patients received medication within the recommended doses in the British National Formulary. This audit highlights the varied presentation in our client group. In view of the diagnostic difficulties often encountered in patients with learning disabilities and psychosis, the authors feel that it would be helpful to supplement clinical assessments with the use of a symptom rating checklist/scale in diagnosis and monitoring the course of psychosis. We propose a checklist that could be used in routine clinical practice to record clinical symptoms and drug‐related side effects.
‘Stroppy’ or ‘confident’? Do carers and professionals view the impact of transition support on young people differently?
Authors: Kaehne Axel , Beyer Stephen
Published: July 2010

Accessible summary

 Young people with learning disabilities encounter many problems when they leave school.

 Support is provided by schools and other agencies, but often families feel that this support is not good enough.

 One reason may be that carers look at transition from school in a different way to school and support staff.

 We wanted to know how carers see the changes that happen in their young son or daughter during transition from school and how their view is different to that of teachers and support staff.

 Carers often stressed how things changed within the family during the time of transition while teachers and support staff emphasised changes in independence and social skills of the young people in our study.

The study examined the effects of transition employment support to two cohorts of young people who were in their last year in school or college in 2005/2006 and 2006/2007. This paper reports the views of carers, teachers and support workers of the impact this additional support made to the young people. Analysis of the data reveals a difference between the views of carers and those of professionals. The paper argues that these differences may reflect different understandings of the aim and purpose of transition support and which may make it difficult to achieve a smooth transition for all stakeholders when not taken into account. This may have implications for how to structure and deliver transition support, some of which are being outlined in the discussion.
Surgeon and Hospital Volume as Quality Indicators for CABG in Taiwan: Examining Hazard to Mortality and Accounting for Unobserved Heterogeneity
Authors: Hockenberry Jason M. , Lien Hsien‐Ming , Chou Shin‐Yi
Published: July 2010

Objective. To investigate whether provider volume has an impact on the hazard of mortality for coronary artery bypass grafting (CABG) patients in Taiwan.

Data Sources/Study Setting. Multiple sources of linked data from the National Health Insurance Program in Taiwan.

Study Design. The linked data were used to identify 27,463 patients who underwent CABG without concomitant angioplasty or valve procedures and the surgeon and hospital volumes. Generalized estimating equations and hazard models were estimated to assess the impact of volume on mortality. The hazard modeling technique used accounts for bias stemming from unobserved heterogeneity.

Principal Findings. Both surgeon and hospital volume quartiles are inversely related to the hazard of mortality after CABG. Patients whose surgeon is in the three higher volume quartiles have lower 1‐, 3‐, 6‐, and 12‐month mortality after CABG, while only those having their procedure performed at the highest quartile of volume hospitals have lower mortality outcomes.

Conclusions. Mortality outcomes are related to provider CABG volume in Taiwan. Unobserved heterogeneity is a concern in the volume–outcome relationship; after accounting for it, surgeon volume effects on short‐term mortality are large. Using models controlling for unobserved heterogeneity and examining longer term mortality may still differentiate provider quality by volume.
Mortality among Patients with Acute Myocardial Infarction: The Influences of Patient‐Centered Care and Evidence‐Based Medicine
Authors: Meterko Mark , Wright Steven , Lin Hai , Lowy Elliott , Cleary Paul D.
Published: July 2010

Background. Recent studies have suggested that there is a positive impact of patient‐centered care (PCC) on both the patient–physician relationship and subsequent patient health‐related behaviors. One recent prospective study reported a significant relationship between the degree of PCC experienced by patients during their hospitalization for acute myocardial infarction (AMI) and their postdischarge cardiac symptoms. A limitation of this study, however, was a lack of information regarding the technical quality of the AMI care, which might have explained at least part of the differences in outcomes. The present study was undertaken to test the influence of both PCC and technical care quality on outcomes among AMI patients.

Methods. We analyzed data from a national sample of 1,858 veterans hospitalized for an initial AMI in a Department of Veterans Affairs medical center during fiscal years 2003 and 2004 for whom data had been compiled on evidence‐based treatment and who had also completed a Picker questionnaire assessing perceptions of PCC. Cox proportional hazards models were used to estimate the relationship between PCC and survival 1‐year postdischarge, controlling for technical quality of care, patient clinical condition and history, admission process characteristics, and patient sociodemographic characteristics. We hypothesized that better PCC would be associated with a lower probability of death 1‐year postdischarge, even after controlling for patient characteristics and the technical quality of care.

Results. Better PCC was associated with a significantly but modestly lower hazard of death over the 1‐year study period (hazard ratio 0.992, 95 percent confidence interval 0.986–0.999).

Conclusions. Providing PCC may result in important clinical benefits, in addition to meeting patient needs and expectations.
CHOP chemotherapy for the treatment of canine multicentric T‐cell lymphoma
Authors: Rebhun R. B. , Kent M. S. , Borrofka S. A. E. B. , Frazier S. , Skorupski K. , Rodriguez C. O.
Published: July 2010

Dogs with multicentric T‐cell lymphoma are commonly treated with CHOP chemotherapy protocols that include cyclophosphamide, doxorubicin, vincristine and prednisone. The purpose of this study was to evaluate the use of CHOP chemotherapy for dogs with multicentric T‐cell lymphoma. Identification of prognostic factors in this specific subset of dogs was of secondary interest. Twenty‐three out of 24 dogs responded to CHOP chemotherapy and these dogs remained on the protocol for a median of 146 days. No variable was associated with progression free survival (PFS) including stage, substage, hypercalcemia or radiographic evidence of a cranial mediastinal mass. The median overall survival time (OST) for all dogs was 235 days. Dogs that were thrombocytopenic at presentation experienced a significantly longer OST (323 versus 212 days, P = 0.01).
Complications of laparoscopic myomectomy: A single surgeon’s series of 1001 cases
Authors: Paul G. P. , NAIK Sejal A. , Madhu K. N. , THOMAS Tony
Published: July 2010

Objective:  The objective of this retrospective study was to evaluate the safety, intra‐operative and post‐operative morbidity of laparoscopic approach for myomectomy.

Methods:  The total 1001 subjects who underwent endoscopic surgery over a 16‐year period were studied retrospectively. All the data were collected regarding clinical presentation, intra‐operative findings, intra‐operative and post‐operative complications, and hospital stay, and statistically analysed.

Results:  The average age of subjects was 32.62 years and the most common indication for surgery was infertility (48.5%). A total of 2167 myomas were removed; 43.98% of subjects required removal of multiple myomas. The average blood loss was 248 mL, and the average hospital stay was 1.5 days. The overall major and minor complication rate is very low except one subject who required laparotomy for post‐operative bleeding, and there was one unexplained post‐operative death.

Conclusions:  Laparoscopic myomectomy is comparable to laparotomy myomectomy in terms of duration of surgery, blood loss and complication rates. This large single surgeon series on laparoscopic myomectomy also shows a low complication rate suggesting that laparoscopic myomectomy is a safe and reliable procedure, even in the presence of multiple or large myomas.
Reestablishment of the Southern California Rocky Intertidal Brown Alga,Silvetia compressa: An Experimental Investigation of Techniques and Abiotic and Biotic Factors That Affect Restoration Success
Authors: Whitaker Stephen G. , Smith Jayson R. , Murray Steven N.
Published: July 2010

Previous research has indicated that many rocky intertidal macrophyte communities in southern California, and other locations around the world, have shifted from larger, highly productive, fleshy seaweeds toward a smaller, less productive, disturbance‐tolerant flora. In widespread decline are ecologically important, canopy‐forming, brown seaweeds, such as the southern California rockweed speciesSilvetia compressa. Restoration efforts are common for depleted biogenic species in other habitats, but restoration within rocky intertidal zones, particularly on wave‐exposed coasts, has been largely unexplored. In two phases, we attempted to restoreSilvetiapopulations on a southern California shore by transplanting live plants and experimentally investigating factors that affect their survival. In Phase I, we implemented a three‐way factorial design where juvenileSilvetiathalli were transplanted at four sites with a combination of simulated canopy and herbivore exclusion treatments. Transplant survival was low, although enhanced by the presence of a canopy; site and herbivore presence did not affect survival. In Phase II, we used a two‐way factorial design, transplanting two size classes of rockweeds (juveniles and reproductive adults) on horizontal and partially shaded, north‐facing vertical surfaces at a target location where this rockweed has been missing since at least the 1970s. Transplant survival was moderate but lower than natural survival rates. Larger thalli exhibited significantly higher survival rates than smaller thalli in both the transplanted and naturally occurring populations, particularly on vertical surfaces. Higher mortality on horizontal surfaces may have been due to differences in desiccation stress and human trampling. Transplanting reproductive adults resulted in the subsequent recruitment of new individuals.
Composting One Invasive Species to Control Another
Authors: Lintz Heather E. , Huso Manuela , Stanley Keith C. , Taylor Trevor
Published: July 2010

The need for research and development of effective approaches to weed control continues to increase globally. Adaptive protocols using diverse control methods are often required in ecological restoration as recruitment of native species is highly site‐specific, species‐specific, and experimental. The use of composted weed refuse to control other weeds may be a practical option; yet, the option is not well studied due to the accompanied risk of introducing weed propagules to areas where weed control is desired. Here, we tested the effectiveness of different physical control techniques including the use of mulch made by composting weed refuse on‐site. English ivy (Hedera helix), a non‐native, invasive species in the Pacific northwestern United States, was removed from a heavily invaded site, shredded, and composted. The mulch was compared with other methods of suppressing herb Robert (Geranium robertianum), another invasive species on‐site. Five treatments were tested: flame‐weeding, hand‐pulling, mulching, hand‐pulling followed by mulching, and flame‐weeding followed by mulching. The mulch and pull/mulch treatments were the most effective, reducing G. robertianum cover by 92 and 86% of pre‐treatment levels, respectively, and suppressing G. robertianum 2.9 and 1.6 times more than the control, respectively. The mechanism behind the effectiveness of the mulch is uncertain, but may be related to weed seed burial or the allelopathic potential of the mulch. Composting one invasive species to use as mulch to control another can be effective and merits trial elsewhere.
The Effects of Road Culverts on Nekton in New England Salt Marshes: Implications for Tidal Restoration
Authors: Eberhardt Alyson L. , Burdick David M. , Dionne Michele
Published: July 2010

In recent years, salt marsh restoration projects have focused upon restoring hydrology through culvert enlargement to return functional values lost due to reduced tidal flow. To evaluate culvert effects on upstream nekton assemblages, fyke nets were set upstream of tidally restricted creeks, creeks recently restored with larger culverts, and paired reference creeks in New Hampshire and Maine, U.S.A. Subtidal habitats created or enlarged by scour were found immediately upstream of undersized culverts. All marshes supported similar assemblages and densities of fish, suggesting that marshes upstream of moderately restrictive culverts provide suitable habitat to support fish communities. However, densities of Crangon septemspinosa (sand shrimp) were significantly reduced upstream of culverts. A mark–recapture study was conducted in tidally restricted, restored, and reference marsh creeks to evaluate culvert effects on the movement of Fundulus heteroclitus (mummichog), the numerically dominant fish species in New England salt marshes. Recapture data indicated that small culvert size and consequently increased water velocity significantly decreased fish passage rates. We infer that upstream subtidal habitats and greater water velocities due to undersized culverts decreased nekton movements between upstream and downstream areas, resulting in segregated nekton populations. Restoration of salt marsh hydrology by the installation of adequately sized culverts will support increased fish access to marsh habitats and nekton‐mediated export of marsh‐derived production to coastal waters.
Gender‐Related Influences of Parental Alcoholism on the Prevalence of Psychiatric Illnesses: Analysis of the National Epidemiologic Survey on Alcohol and Related Conditions
Authors: Morgan Peter T. , Desai Rani A. , Potenza Marc N.
Published: July 2010

Background: Offspring of individuals with alcoholism are at increased risk for psychiatric illness, but the effects of gender on this risk are not well known. In this study, we tested the hypothesis that the gender of the parent with alcoholism and the gender of offspring affect the association between parental alcoholism and offspring psychiatric illness.

Method: We analyzed the National Epidemiological Survey on Alcohol and Related Conditions (NESARC) data to examine the gender‐specific prevalence of axis I and axis II disorders in 23,006 male and 17,368 female respondents with and without a history of paternal or maternal alcoholism. Adjusted odds ratios were calculated for the disorders based on gender and presence of maternal or paternal alcoholism.

Results: Maternal or paternal alcoholism was associated with a higher prevalence of every disorder examined, regardless of the gender of offspring. Gender‐related differences in prevalences were present in nearly all examined disorders, and the association between parental alcoholism and offspring psychiatric disorders was significantly different in men and women. These differences included stronger associations in female offspring of men with alcoholism (alcohol abuse without dependence); in female offspring of women with alcoholism (mania, nicotine dependence, alcohol abuse, and schizoid personality disorder); in male offspring of men with alcoholism (mania); and in male offspring of women with alcoholism (panic disorder).

Conclusions: Interactions between gender and parental alcoholism were specific to certain disorders but varied in their effects, and in general female children of women with alcoholism appear at greatest risk for adult psychopathology.