bluuebunny/crossref_metadata_2025 huggingface dataset:
STR Polymorphism Among Two Tribal Populations of India
Authors: Ghosh A , Ramesh A , Kumar KAR , Seshadri M
Published: May 2004

Two tribal populations of India, Bison Horn Maria and Muria from Bastar district of Madhya Pradesh in Central India were studied for DNA polymorphisms at tetranucleotide short tandem repeat (STR) loci (F13A01 and HUMvWA). A total of 63 random adult individuals for F13A01 locus and 53 samples for HUMvWA were analyzed in the present study.
Review of: Juvenile Sexual Homicide
Authors: Brenzinger M
Published: May 2004

Wade Myers presents a comprehensive and fascinating examination about juveniles who commit sexual homicide. Juvenile Sexual Homicide is a unique contribution, in that it is the first empirical, systematic study ever conducted on this population. Sexual homicide is understood as a murder that has an identifiable sexual component connected to the act, often demonstrated by either an overt behavior or having symbolic significance. Although the act of sexual homicide is a rare event, Dr. Myers painstakingly identified and studied 16 male juveniles who committed at least one sexual homicide. The text is intended, in part, to identify and understand the psychopathology, personality, and behavioral characteristics within a group of 16 male juveniles. The book is divided into three sections, beginning with a general discussion regarding the scope of the research and presents the methodology used to gather, analyze, and interpret the findings. Section two examines the juvenile's behaviors, taking into account the various criminal aspects identified, and applies the known case data to psychiatric and psychological diagnoses, particularly focusing on the juvenile's personality structure and psychopathic characteristics observed. The text concludes by providing the reader with a typology of these offenders, and devotes a chapter to elderly female victims, an increasing concern for law enforcement.
Review of: Science and Litigation: Products Liability in Theory and Practice
Authors: Grey BJ
Published: May 2004

Science and Litigation: Products Liability in Theory and Practice, written by Terrence Kiely, a professor at DePaul Law School, focuses on the use of scientific evidence in the courtroom. It declares its audience as judges, expert witnesses, plaintiff or defendant trial counsel, law professors or 2 as well as corporate scientists and executives, and aims to guide these diverse groups through the intricacies of a products liability case steeped in scientific evidence.
Review of: Practical Aspects of Rape Investigation: A Multidisciplinary Approach, 3rd Ed.
Authors: Bashinski JS
Published: May 2004

This text is divided into four sections. The first four chapters deal with the victim—describing the victim's perspective, rape trauma syndrome, crisis care for the victim, and include a review of contemporary issues and a new chapter on victims in nursing homes. The next ten chapters discuss the investigation of rape and sexual assault, focusing on classifying the rape and profiling the behavior of the offender, including a discussion of false confessions. The third section consists of three chapters describing the recognition and collection of forensic evidence, the forensic medical examination of the victim, and the prosecutor's presentation of the case in court. The fourth section consists of six chapters on special populations, including juvenile and female offenders and sexual predators in nursing homes. The stated aim of this 3rd edition is to present current research findings, new forensic techniques, and recent data about special populations of victims and offenders.
Review of: A History of Cocaine: The Mystery of Coca Java and the Kew Plant
Authors: Isenschmid DS
Published: May 2004

The title of this book is somewhat misleading. If you buy this book expecting a general text on the history of cocaine, you may be disappointed. The second part of the title is more descriptive of the actual contents of this volume: three historically interesting doctoral dissertations about the origins of the coca plant and the early coca trade. These dissertations have been translated specifically for this book and have not been easily obtainable prior to this publication in any language.
Review of: Cross-Examination: The Comprehensive Guide for Experts
Authors: DeHaan JD
Published: May 2004

Courtroom testimony with its intense adversarial setting is one of the most feared aspects of being a forensic scientist because no one likes to have their statements, opinions, and reasoning challenged, and here it is the heart of the proceeding. It is so off-putting that some new criminalists change their careers rather than prepare themselves to meet the challenges offered. This is the book I wish I had 30 years ago. Aimed at expert witnesses testifying in both civil and criminal trials, it explains the process of testimony and cross-examination so that the witness can prepare to give the most effective testimony. Such preparation may not quell all the fears but at least reduce them. As one colleague used to put it, “get all the butterflies flying in formation.”
Review of: Encyclopedia of Forensic Science
Authors: Ballou S
Published: May 2004

The Encyclopedia of Forensic Science is a condensed version of facts and trivia that should be at the forensic examiner's fingertips when testifying in court. I thoroughly enjoyed the random insertion of case histories that pulls the reader out of the analytical depths and into reality. The case histories are peppered with speculation adding to the intrigue; photographs and diagrams are nicely inserted allowing visual explanation of a process or technique. Although if this document is targeted to the novice forensic science student as both the forward and preface allude to, then the text should have undergone a more thorough review.
The Autosomal STR Frequencies in Pakistani Populations
Authors: Hadi S , Vanezis P , Goodwin W
Published: May 2004

Pakistani (n = 704); Punjabi (n = 200), Pushtoon (n = 170), Sindhi (n = 100), Baluchi (n = 35), Makrani (n = 48), Brosho (n = 54), Kalash (n = 97).
Effect of Surface Macrotexture on Skid Resistance Measurements by the British Pendulum Test
Authors: Liu Y , Fwa T F , Choo Y S
Published: May 2004

The British pendulum test is a common procedure for laboratory as well as field measurement of the low-speed friction of a road surface material. It is widely suggested that the measured low-speed friction is largely governed by the surface microtexture of the road material, and many researchers and practitioners have considered the friction measurements made by the British pendulum test to be an indirect form of measurement of available microtexture of the road material. The experimental results presented in this paper show that this general view is not always correct. This study investigated the effects of test surface macrotexture represented by the following two geometric parameters: the size of subcontact areas and the magnitude of gaps between subcontact areas. The test results demonstrated that the low-speed friction measurements by the British pendulum tester were significantly affected by test surface macrotexture. This finding also implies that the closely packed aggregate condition required for the laboratory British pendulum test may not produce a correct assessment of the skid resistance of the true road surface. Laboratory measurements are likely to overestimate the skid resistance of a road surface if the surface aggregate spacing is wider than the spacing of the manually-packed laboratory specimens.
On the Mechanical Behavior of Global Parameters in Material Characterization by Sharp Indentation Testing
Authors: Larsson P-L
Published: May 2004

Sharp contact problems are examined theoretically and numerically. The analysis is focused on elastic-plastic materials and, in particular, the behavior of global contact quantities, such as mean contact pressure and the size of the contact area, in the transition region where elastic and plastic effects are of equal magnitude. It is shown that under these circumstances, the global contact quantities can be correlated accurately using a single parameter, comprising both geometrical and mechanical properties, if the uniaxial stress-strain curve of the material is represented by the stress level(s) at appropriate value(s) of the accumulated plastic strain. From a practical point of view, the presented results are directly applicable to material characterization or measurements of residual mechanical fields by sharp indentation tests, but also for situations such as contact in gears or in electronic devices. The numerical analysis is performed by using the finite-element method.
The Response of 1CrMoV Rotor Steel to Service-Cycle Thermomechanical Fatigue Testing
Authors: Holdsworth SR , Mazza E , Jung A
Published: May 2004

The testing details and results of a series of service-cycle thermomechanical fatigue (TMF) tests on two heats of a 1CrMoV steam turbine rotor steel are described. Two unexpected features of the tests were the development of testpiece necking and, in one heat of the steel, noninteracting creep and fatigue damage. The paper provides a detailed consideration of these aspects.

Both features are attributed to the magnitude of the temperature gradient along the testpiece gage length at peak temperature during TMF cycling. The temperature gradient was acceptable according to the current draft ISO Standard for TMF testing. In the light of the experience described, it is recommended that this existing guidance be reviewed.
Hypertension Management and Control in Primary Care: A Study of 20 Practices in 14 States
Authors: Ornstein Steven M. , Nietert Paul J. , Dickerson Lori M.
Published: May 2004

Study Objective. To describe the management and control of hypertension in primary care practice.

Design. Retrospective medical record review.

Setting. Twenty primary care practices in 14 states.

Patients. Thirteen thousand forty‐seven patients with hypertension.

Measurements and Main Results. Diagnoses, drugs prescribed, and blood pressure readings were extracted from the electronic medical record at each practice in the study. For patients with hypertension and comorbid diagnoses, the most recent blood pressure and antihypertensive drugs prescribed were determined. Analyses assessed the blood pressure control rates and the association between control and demographic variables, frequency of visits to the practice site, and pharmacologic treatment patterns. Among the 20 practices in the study, 13,047 patients had received a diagnosis of hypertension and their blood pressures had been measured within the previous 12 months. One third of the patients had comorbid coronary heart disease, diabetes mellitus, heart failure, and/or renal insufficiency. The most recent blood pressure reading was below 140/90 in half the patients. Control was associated with age 60 years or younger, female sex, more than one visit to the practice, more than one comorbidity, and type of practice (p<0.01, logistic regression). Wide variability was noted among practices in the use of multiagent antihypertensive therapy, and in antihypertensive therapy by drug class. Among patients without comorbidity treated with one drug, systolic blood pressure did not differ significantly by drug class. Diastolic blood pressure was slightly lower in patients prescribed thiazide diuretics than in those prescribed angiotensin receptor blockers (p=0.03, analysis of covariance).

Conclusion. Blood pressure control in primary care practice can be much better than reports usually indicate. Good control in this study was not due to specific drug choice, but instead may have been due to regular monitoring of blood pressure and motivation of the practice to improve patient care.
Excessive Somnolence from Aripiprazole in a Child
Authors: Davenport Jennifer D. , McCarthy Michelle W. , Buck Marcia L.
Published: May 2004

A 9‐year‐old girl was hospitalized with prolonged somnolence that began 3.5 hours after a single 15‐mg dose of aripiprazole. After extensive workup, physical examinations were unremarkable, and all laboratory test results were within normal limits. The patient's extreme somnolence was attributed to aripiprazole, a new atypical antipsychotic prescribed for oppositional defiant disorder. In clinical trials, somnolence has been reported with a frequency of approximately 11%. However, the somnolence experienced by this child was severe, requiring 24‐hour hospitalization for observation. Although a recent dose‐finding study in 22 pediatric patients (≥ 6 yrs old) described weight‐based dosages that were safe and well tolerated, dosing of aripiprazole in children has not been well established. Further studies are needed to identify optimal dosing of aripiprazole in pediatric patients.
Tegaserod‐Induced Myocardial Infarction: Case Report and Hypothesis
Authors: Busti Anthony J. , Murillo Jose R. , Cryer Byron
Published: May 2004

Serotonin (5‐hydroxytryptamine [5‐HT])1 receptor agonists, such as those used for treating migraine, can cause coronary artery contraction, coronary spasm, and even myocardial infarction. Tegaserod maleate is a relatively new 5‐HT4 receptor agonist with moderate affinity for the 5‐HT1 receptor. Currently, it is approved only for treatment of irritable bowel syndrome in women who have constipation as the primary symptom. However, it is also being administered as a promotility agent in patients with gastroparesis. Since tegaserod has affinity for the 5‐HT1 receptor, it is plausible that tegaserod could cause the same types of cardiovascular adverse events seen with agents prescribed for management of migraine. We report the first case of a man who experienced a myocardial infarction after receiving only two 6‐mg doses of tegaserod; we also provide a hypothesis regarding this event. When considering prescribing a drug with 5‐HT1 receptor agonist activity, clinicians should review the patient's medical history specifically for the presence of underlying cardiovascular risk factors.
Transient Diabetes Insipidus After Discontinuation of Therapeutic Vasopressin
Authors: Kristeller Judith L. , Sterns Richard H.
Published: May 2004

The use of vasopressin for the treatment of septic shock is increasing. Few reports of fluid and electrolyte complications of this therapy have been reported. A neurologically impaired, 53‐year‐old man with a history of syndrome of inappropriate antidiuretic hormone developed apparent transient diabetes insipidus and acute hypernatremia after being treated with vasopressin. He was treated for presumed septic shock with intravenous vasopressin 0.01–0.10 U/minute. His blood pressure did not improve with this therapy, and his course was complicated by hyponatremia during the vasopressin infusion. Discontinuation of the infusion was followed by a profound (8.4 L) diuresis and rapid onset of hypernatremia (serum sodium concentration increased from 132 to 157 mEq/L over 8 hrs). Although urine osmolality was not measured during the patient's diuresis, the rapid changes in serum sodium concentration can be explained only by an inappropriate water diuresis. The diuresis ceased when the vasopressin infusion was resumed. We concluded that these findings are most consistent with transient diabetes insipidus. The safety and efficacy of intravenous vasopressin have not been established in patients with septic shock and underlying disorders of water homeostasis. The drug may have diminished vasoconstrictive effects in this patient population. Careful monitoring of water and sodium balance is warranted in all patients treated with vasopressin for septic shock.
Fingernail Clubbing and Chromonychia Associated with the Use of Angiotensin II Receptor Blockers
Authors: Packard Kathleen A. , Arouni Amy J. , Hilleman Daniel E. , Gannon Joshua M.
Published: May 2004

Fingernail clubbing and discoloration frequently indicate serious pulmonary, cardiovascular, and gastrointestinal pathologies. A 76‐year‐old Caucasian man developed clubbing of the fingernails and discoloration of both the fingernails and toenails after 27 days of treatment with the angiotensin II receptor blocker (ARB) losartan 50 mg/day. Even though this therapy was switched to valsartan, the nail changes persisted for another 6 months. The patient's therapy then was changed to captopril, and the changes gradually subsided over 17 months. An extensive literature search revealed no reports of this effect in association with ARBs. However, one manufacturer had received spontaneous reports. Despite careful consideration of other possible causes of the patient's symptoms, the temporal association with the start and discontinuation of ARB therapy suggests a possible drug‐related adverse event.
Lamellar Mesostructured Silicas with Chemically Significant Hierarchical Morphologies
Authors: Karkamkar A. J. , Kim S.‐S. , Mahanti S. D. , Pinnavaia T. J.
Published: May 2004

We describe the hierarchical structures of mesostructured silicas assembled from electrically neutral and unsymmetrical Gemini surfactants of the type CnH2n+1NH(CH2)mNH2 with n = 10, 12, 14 and m = 3, 4. As expected for Gemini surfactants with an all anti‐chain configuration and a packing parameter near 1.0, lamellar framework structures are formed, regardless of the length of the alkyl chain (n) and the number of carbon atoms (m) linking the two amino group centers. However, different layer curvatures and levels of hierarchical structure are observed depending on the delicate balance between the hydrophilic interactions at the surfactant head group–silica interface and the hydrophobic interactions between the surfactant alkyl groups. For Gemini derivatives with n = 12 or 14 and m = 3 or 4, well‐expressed hierarchical vesicles are formed that are analogous to those assembled previously from Gemini surfactants with m = 2. However, for n = 10, a new coiled slab structure (m = 3) and an onion‐like core–shell structure (m = 4) are formed. In addition, a previously unobserved stripe‐like silica structure is obtained from a C012+2+0 Gemini surfactant in combination with an α,ω‐diamine co‐surfactant. The relative stability of these hierarchical structures depends on the delicate competition between the long‐range elastic forces occurring in the hydrophobic region of the assembled surfactant and the short‐range chemical forces in the hydrophilic moiety. Lamellar silicas with hierarchical vesicular structures, the new coiled slab, and stripe‐like phases promise to be chemically significant morphologies, because they can minimize the framework pore length and provide optimal access to the framework walls under diffusion‐limited conditions.
Materials for Multibit‐per‐Site Optical Data Storage
Authors: Wang J. , Stucky G. D.
Published: May 2004

An approach for multibit‐per‐site optical data storage has been proposed and demonstrated using mesostructured composite films incorporated with uniformly dispersed photoacid generator and pH‐sensitive dye molecules. Upon light illumination, photoacid generator molecules produce acid, which induces a change in the absorption property of pH‐sensitive dye molecules. Because the amount of the generated acid is proportional to the illumination time, the resulting change in the absorption property of mesostructured composite films varies as a function of the illumination time. This function between the absorption property of mesostructured composite films and the illumination time can be used for multibit‐per‐site optical data storage. Recording is performed by using certain discrete values of the illumination time to represent information bits. Reading out is achieved by measuring the absorbance of composite films at a particular wavelength, from which the stored information bits can be determined. In general, N‐bit‐per‐site storage can be realized using 2N discrete values of the illumination time. This multibit‐per‐site approach for optical data storage is compatible with the current single‐bit‐per‐site technology used for compact disks and digital versatile disks, and will provide significantly larger optical storage capacity. It is also suitable for two‐photon multilayer optical data storage if the photoacid generators and pH‐sensitive dyes are properly designed.
Estimation of infinite dilution activity coefficients of organic compounds in water with neural classifiers
Authors: Giralt Francesc , Espinosa G. , Arenas A. , Ferre‐Gine J. , Amat L. , Gironés X. , Carbó‐Dorca R. , Cohen Y.
Published: May 2004

A new approach is presented for the development of quantitative structure–property relations (QSPR) based on the extraction of relevant molecular features with self‐organizing maps and the use of a modified fuzzy‐ARTMAP classifier for variable prediction. The present methodology is demonstrated for the development of a QSPR for the aqueous‐phase infinite dilution activity coefficient γ∞, based on a data set of 325 diverse organic compounds. The QSPR was developed using a set of 11 molecular descriptors (four connectivitiesvχ1–4, Coulomb self‐similarity measure, electron–nuclear attraction, dipole moment, sum of atomic numbers, number of filled levels, average polarizability, and nuclear–nuclear repulsion). The final set of molecular descriptors was selected from an initial pool of 23 topological and quantum chemical descriptors, including six molecular quantum similarity measures, by means of a topological analysis of self‐organization of the data set. Additional interpolated information to enhance the training of the neural system was obtained from the self‐organization analysis. The resulting fuzzy‐ARTMAP–based QSPRs performed with errors that were on the average seven times smaller compared to previous published models. The use of only four molecular quantum similarity measures proved to be sufficient for building a lnγ∞fuzzy‐ARTMAP–based QSPR with reasonable accuracy. © 2004 American Institute of Chemical Engineers AIChE J, 50:1315–1343, 2004
Perrault syndrome: Evidence for progressive nervous system involvement
Authors: Fiumara Agata , Sorge Giovanni , Toscano Antonio , Parano Enrico , Pavone Lorenzo , Opitz John M.
Published: May 2004

Perrault syndrome (PS) comprises gonadal dysgenesis and sensorineural deafness in females, and deafness in affected males. More recent studies have asked whether the neurological signs in some of the patients are a coincidental finding or part of the syndrome. We report on two pairs of sisters with gonadal dysgenesis and deafness, cerebral, and ocular involvement who developed a progressive, severe sensory, and motor neuropathy. This observation constitutes further evidence of peripheral nervous system involvement in PS. Based on the clinical observations of known patients, two forms of PS may be distinguished: one apparently non‐progressive form and another (exemplified by our two sets of sisters) with apparently progressive axonal‐cerebellar degeneration. © 2004 Wiley‐Liss, Inc.
Medical privacy and the disclosure of personal medical information: The beliefs and experiences of those with genetic and other clinical conditions
Authors: Kass Nancy E. , Hull Sara Chandros , Natowicz Marvin R. , Faden Ruth R. , Plantinga Laura , Gostin Lawrence O. , Slutsman Julia
Published: May 2004

There has been heightened legislative attention to medical privacy and to protections from genetic discrimination, without large‐scale studies to document privacy concerns or analysis of whether experiences differ by whether the condition is genetic (defined here as a single‐gene disorder) or non‐genetic. To determine whether experiences regarding privacy, disclosure, and consequences of disclosure differ by whether one's medical condition is genetic, we conducted a descriptive study with one‐time, structured quantitative and qualitative interviews. We interviewed approximately 100 adults or parents of children with each of the following medical conditions: sickle cell disease, cystic fibrosis, diabetes, and HIV, and 200 adults with or at risk for breast cancer or colon cancer. The percentages of the total 597 respondents experiencing positive or negative consequences of disclosure and the degree to which experiences differed by whether the condition was genetic were the outcomes of interest. Seventy‐four percent were glad and 13% regretted others knew about their condition; these findings did not differ significantly by genetic vs. non‐genetic condition. Reports of job and health insurance discrimination were not uncommon for the overall study population (19 and 27%, respectively) but were more likely among those with genetic conditions (30 and 37%, respectively). Legislation and other policy‐making should target the needs of persons with all conditions and not focus exclusively on genetic discrimination, given that experiences and concerns generally do not differ based on the genetic etiology of the condition. © 2004 Wiley‐Liss, Inc.
Ring (Y) in two azoospermic men
Authors: Lin Ying‐Hui , Lin Yung‐Ming , Lin Ying‐Hong , Chuang Louise , Wu Shih‐Yi , Kuo Pao‐Lin
Published: May 2004

We have identified two azoospermic men with r(Y) in 312 infertile men presenting with non‐obstructive azoospermia or oligozoospermia. Their karyotypes were 45,X [9]/46,X, r(Y)(p11q11) [11] (case 1), and 46,X,r(Y)(p11q11) (case 2), respectively. In both cases, the Yp breakpoints were located within the pseudoautosomal region. Both cases had extensive deletions of azoospermia factors (AZFs). Case 1 also had deletion of the putative growth controlling gene (GCY) and the Yq breakpoint was located between sY741 and USP9Y. The Yq breakpoint was located between sY105 and sY109 in case 2. Both cases did not have Turner stigmata except short stature in case 1. By a combination of cytogenetic and molecular genetic tools, we showed r(Y) arose from breakage in both arms of the chromosome with subsequent fusion of two broken ends of the centric fragment to form a continuous ring. Spermatogenic defects in men with r(Y) may result from deletion of Y‐linked AZFs combined with synaptic failure. © 2004 Wiley‐Liss, Inc.
Nonmosaic smallest duplication of 12q24.31‐qter: The first reported case
Authors: Ireland Julie Won , Jalal Syed M. , McGrann Pamela S. , Lindor Noralane M.
Published: May 2004

Duplication of the terminal region of the long arm of chromosome 12 is not common. In 13 previous cases, duplication of this region was generally associated with deletions of the derivative chromosomes, larger sized duplications or mosaicism. We have studied a young man with a nonmosaic duplication of 12q24.31‐qter translocated to chromosome 5pter. This is the first reported case of pure subtle duplication involving less than two terminal subbands of 12q24.31 to qter. The origin of this genetic material was confirmed by whole chromosome paints and subtelomere specific FISH probes. As both the subtelomere signals for 5p and 12q were present in the der(5) chromosome, it is unlikely that there was any loss of unique DNA sequences from the terminal region of chromosome 5p. This case is compared with 13 other reported cases with a duplication of the 12q terminal segment. © 2004 Wiley‐Liss, Inc.
Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: Report and review of Micro syndrome
Authors: Derbent Murat , Agras Pinar Isık , Gedik Şansal , Oto Sibel , Alehan Füsun , Saatçi Ümit
Published: May 2004

We report on a 7‐month‐old boy with Micro syndrome who was referred for assessment of mental‐motor retardation and reduced vision with cataract. The characteristics of Micro syndrome are mental retardation, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. The differential diagnosis includes cerebro‐oculo‐facio‐skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu–Laxova syndrome; Lenz microphthalmia syndrome; and Smith–Lemli–Opitz syndrome. Till date, no renal malformations have been reported in Micro syndrome. Our patient had fusion of the lower poles of the kidneys and his left kidney was ectopic. Ocular findings are the most reliable neonatal diagnostic signs of Micro syndrome. Minör anomalies in Micro syndrome may be subtle and therefore not of significant diagnostic value. Micro syndrome is an autosomal recessive trait. Till date, most reported cases have been in individuals of Muslim origin. In countries with high rates of consanguineous marriage, such as Turkey, it is important that physicians be able to recognize this syndrome. Micro syndrome should be considered in any infant with congenital cataract. © 2004 Wiley‐Liss, Inc.
A new insight into fragile X syndrome among Basque population
Authors: Peñagarikano Olga , Gil Alberto , Télez Mercedes , Ortega Begoña , Flores Piedad , Veiga Isabel , Peixoto Ana , Criado Begoña , Arrieta Isabel
Published: May 2004

The expansion of a trinucleotide repeat [CGG]n located in the FMR1 X‐linked gene is the main cause of fragile X syndrome, the most common form of inherited mental retardation. We have analyzed the factors known, to date, to influence the instability of the repeat in 158 normal X chromosomes from the Spanish Basque population. These factors included length of the repeat, AGG interspersion pattern, length of uninterrupted CGG and DXS548‐FRAXAC1 markers associated haplotype. Previous investigations on Basques showed an absence of this disorder among mentally retarded individuals that was likely due to a low prevalence of large CGG alleles and the presence of AGG interruptions on them. The present report suggests that, although the frequency of large alleles is low and they do maintain AGG interruptions, different mutational pathways that might lead to fragile X syndrome could be occurring among Basques. These pathways mainly include alleles with internal sequences 9 + 9 + n and 9 + 12 + 9 that show fragile X associated haplotypes. Besides, the lack of the most proximal AGG interruption, proposed recently as a novel factor involved in CGG repeat instability, was highly identified among alleles with long pure CGG tracts, which showed an internal sequence n + 9. The data suggest that, despite the lower incidence of large alleles, the prevalence of potentially unstable alleles among Basques is similar to that of other Caucasian populations and that these alleles could become fragile X chromosomes. © 2004 Wiley‐Liss, Inc.
Oto‐onycho‐peroneal syndrome: Further delineation and first fetal report
Authors: Bessieres‐Grattagliano Bettina , Brodaty Genevieve , Martinovic Jelena , Fallet‐Bianco Catherine , Delezoide Anne‐Lise , Daffos Fernand
Published: May 2004

We report on the sixth case and first fetal description of oto‐onycho‐peroneal syndrome (MIM 259780). This entity consists in the association of ear anomalies (‐oto), hypoplastic nails (‐onycho), hypoplastic or absent fibulae (‐peroneal), and shoulder anomalies. Described for the first time by Leiba et al. [1975: Birth Defects 11:67–73] in a male patient, coined by Pfeiffer [1982: Eur J Pediatr 138:317–320], and confirmed by Devriendt et al. [1998: J Med Genet 35:508–509] this condition is most likely autosomal recessive, given the occurrence in sibs of both sexes with normal parents. © 2004 Wiley‐Liss, Inc.
Patterns of behavior across reproductive states of free‐ranging female black‐handed spider monkeys (Ateles geoffroyi)
Authors: Campbell Christina J.
Published: May 2004

Reports on the behavior of spider monkeys (genus Ateles) describe a suite of 5–6 behaviors that are indicative of an estrous female. This study presents hormonal data as an independent measure of reproductive state to determine if these behaviors are associated with any particular reproductive state or stage of the ovarian cycle. Fecal samples collected from 6 free‐ranging female black‐handed spider monkeys (Ateles geoffroyi) over the course of 11 months were assayed for estrogen (E1C) and progesterone (PdG) metabolites, using an enzyme immunoassay. Behavioral data collected from the same females were analyzed for patterns associated with different reproductive states. A more detailed analysis of behavioral data associated with reproductively cycling periods determined whether each behavior clustered with copulations or a particular phase in the ovarian cycle. Observations of place‐sniffing were more frequent for 4 of 5 females when reproductively cycling. Of all copulations observed, 80% occurred when the female participant was reproductively cycling. In addition, the rates of self‐clitoral hold and self‐clitoral rub behaviors were significantly higher for 2 of 4 and 4 of 5 of females, respectively, when reproductively cycling. No behavior consistently occurred in association with copulations or with any particular phase in the ovarian cycle. Results from this study suggest that the behaviors tested in this paper can provide some information regarding female spider monkey reproductive state (whether or not she is reproductively cycling), but that they are not indicators of estrus in female spider monkeys. Am J Phys Anthropol, 2003. © 2003 Wiley‐Liss, Inc.
Evolution of surgical treatment for pharyngeal pouch
Authors: Aly A , Devitt P G , Jamieson G G
Published: May 2004

Background

The development of endoscopic techniques, particularly endoscopic stapling, has led to a re-evaluation of the treatment of pharyngeal pouch. The pathophysiology and treatment of the condition is reviewed.

Methods

An electronic literature search was undertaken on the pathophysiology, history and surgery of pharyngeal pouch (Zenker's diverticulum). These last two terms were used to the search the Cochrane, Medline and Embase databases (from 1966 to date) and the bibliographies of extracted articles.

Results and conclusion

With recognition of the central role of the cricopharyngeus muscle in the pathogenesis of pouch formation, the emphasis on treatment has shifted from diverticulectomy to cricopharyngeal myotomy. Minimally invasive techniques have become established since the advent of endoscopic stapling devices. Although randomized controlled data are lacking, the endoscopic approach appears to offer advantages in terms of a shorter duration of anaesthesia, more rapid resumption of oral intake, shorter hospital stay and quicker recovery. It is associated with excellent success rates and minimal morbidity.
Systematic review of safety and effectiveness of an artificial bowel sphincter for faecal incontinence
Authors: Mundy L , Merlin T L , Maddern G J , Hiller J E
Published: May 2004

Background

The aim was to determine the safety and effectiveness of the implantation of an artificial bowel sphincter for the treatment of severe faecal incontinence.

Method

Medical bibliographic databases, the internet and reference lists were searched from January 1966 to January 2003. Only the lowest level of evidence was available for inclusion in this systematic review. Case series and case reports were selected to assess safety, whereas only case series were selected to assess effectiveness.

Results

Fourteen studies met the inclusion criteria. A number of safety issues were reported, including high explantation rates, and rates of adverse events owing to infection, device malfunction, ulceration and pain. Results in published reports were not analysed on an intention-to-treat basis. Continence, quality of life and manometry scores were reported for patients with a functioning device at the end of follow-up. These patients experienced a significant improvement in their level of continence. As no outcome data were presented for those with a non-functioning or explanted device, it is possible that such patients may have a worsened degree of incontinence or decreased quality of life.

Conclusion

Implantation of an artificial bowel sphincter is of uncertain benefit and may possibly harm many patients. Patient selection is therefore critical and should be enhanced by higher-quality research.
Early postoperative small bowel obstruction
Authors: Sajja S B S , Schein M
Published: May 2004

Background

Early postoperative small bowel obstruction (EPSBO) is a distinct clinical entity that is often difficult to differentiate from postoperative ileus.

Methods

A literature search was performed for articles dealing with early postoperative small bowel obstruction using Medline and Google™.

Results and conclusion

When bowel function does not return within 5 days after surgery, causes of persistent ileus should be excluded and treated. Most instances of mechanical EPSBO can be treated expectantly for at least 10–14 days with almost no risk of bowel strangulation. Some causes of obstruction (for example herniation at a laparoscopic trocar site) require early reintervention, whereas in other cases (such as radiation enteritis, carcinomatosis) reintervention may be deferred indefinitely. Many episodes of EPSBO resolve without the cause being elucidated.
Late follow-up of a randomized trial of surgery plus tamoxifen versus tamoxifen alone in women aged over 70 years with operable breast cancer
Authors: Fennessy M , Bates T , MacRae K , Riley D , Houghton J , Baum M
Published: May 2004

Background

Breast cancer has been considered a more indolent disease in the elderly, who are less tolerant of aggressive therapy. This trial tested the hypothesis that tamoxifen without surgery would provide adequate control of breast cancer for the remainder of life in elderly women, thereby sparing them surgery.

Method

Women aged over 70 years with operable, invasive breast cancer were randomized to receive either tamoxifen alone or surgery plus tamoxifen. Time to treatment failure (TTF), indicating initial primary treatment failure, was the primary endpoint. Overall mortality, and death from breast cancer were also compared between the two groups.

Results

Between 1984 and 1991, 455 patients were included in the trial. The analysis was based on a median follow-up of 12·7 years. The TTF was significantly shorter in the tamoxifen alone group: hazard ratio (HR) 4·41 (95 per cent confidence interval (c.i.) 3·31 to 5·88). Ninety-three (40·4 per cent) of 230 patients randomized to tamoxifen alone underwent surgery for the management of their disease. Both overall mortality and mortality from breast cancer were significantly increased in the tamoxifen alone group, although the survival curves did not diverge for the first 3 three years: HR 1·29 (95 per cent c.i. 1·04 to 1·59) and 1·68 (95 per cent c.i. 1·15 to 2·47) respectively.

Conclusion

Omission of primary surgery in unselected elderly women with operable breast cancer who were fit for the procedure resulted in an increased rate of progression, therapeutic intervention and mortality.
Management of in-transit metastases from cutaneous malignant melanoma
Authors: Hayes A J , Clark M A , Harries M , Thomas J M
Published: May 2004

Background

In-transit metastases from cutaneous malignant melanoma (cutaneous or subcutaneous deposits between the primary melanoma and regional lymph nodes) represent late-stage disease, and their treatment should be tailored accordingly. This article reviews the pathology, clinical significance and treatment options for in-transit disease from melanoma.

Methods

An initial Medline search was undertaken using the keywords ‘melanoma and in-transit’ and ‘melanoma and non-nodal regional recurrence’. Additional original articles were obtained from citations in articles identified by the initial search.

Results and conclusion

In-transit metastases carry a poor prognosis. The method of treatment should be tailored to the extent of cutaneous disease. The first line of treatment remains complete excision with negative histopathological margins. There is no need for wide excision. Carbon dioxide laser therapy is valuable for multiple small cutaneous deposits. Isolated limb perfusion has a role for numerous or bulky advanced in-transit metastases in the limbs that are beyond the scope of simpler techniques. Systemic chemotherapy has response rates of about 25 per cent and is reserved for patients for whom surgery is no longer feasible.
Improving the outcome for older women with breast cancer
Authors: Fentiman I S
Published: May 2004

Avoiding ageist bias
Safety in numbers
Authors: Brennan M F
Published: May 2004

Patient Safety Leading Article Series, 2004. Continuing BJS's 2004 series on patient safety, Murray Brennan of Memorial Sloan-Kettering Cancer Center considers the effects of specialisation and surgical volume, from the viewpoint of both the surgeon and the institution.

The numbers are interesting—and informative—but the whole picture is far from simple and the future is far from clear.
Infection of patients by bloodborne viruses (Br J Surg 2004; 91: 395–399)
Authors: Tansley P
Published: May 2004

The Editors welcome topical correspondence from readers relating to articles published in the Journal. Responses can be sent electronically via the BJS website (www.bjs.co.uk) or by post. All letters will be reviewed and, if approved, appear on the website. A selection of these will be edited and published in the Journal. Letters must be no more than 250 words in length. Letters submitted by post should be typed on A4-sized paper in double spacing and should be accompanied by a disk.
On the Importance of Electron Correlation Effects for the π‐π Interactions in Cyclophanes
Authors: Grimme Stefan
Published: May 2004

Correlated ab initio quantum chemical methods based on second‐order perturbation theory and density functional theory (DFT) together with large atomic orbital (AO) basis sets are used to calculate the structures of four cyclophanes with two aromatic rings and one sulphur‐containing phane with one aromatic ring. The calculated geometrical data for [2.2]paracyclophane, cyclophane (superphane), 8,16‐dimethyl[2.2]metacyclophane, 16‐methyl[2.2]metaparacyclophane, and 2,6,15‐trithia[34,10][7]metacyclophane are compared to experimental data from X‐ray crystal structure determinations. In all cases, very accurate theoretical predictions are obtained from the recently developed spin‐component‐scaled MP2 (SCS‐MP2) method, in which the deviations are within the experimental accuracy and expected crystal‐packing or vibrational effects. Especially the inter‐ring distances, which are determined by a detailed balance between attractive van der Waals (dispersive) and repulsive (Pauli) contributions, are very sensitive to the level of theory employed. While standard MP2 theory in general overestimates the dispersive interactions (π–π correlations) between the two aromatic rings leading to too short distances (between 3 and 8 pm), the opposite is observed for DFT methods (errors up to 15 pm). This indicates that an explicit account of dispersive‐type electron correlation effects between the clamped aromatic units is essential for a quantitative description of cyclophane structures. In order to distinguish these effects from “normal” van der Waals interactions, the term “overlap‐dispersive” interaction may be employed. The popular B3 LYP hybrid density functional offers no advantage over the pure PBE functional that at least qualitatively accounts for some of the dispersive effects. The use of properly polarized AO basis sets of at least valence‐triple‐ζ quality is strongly recommended to obtain quantitative predictions with traditional wave function methods.
Direct synaptic connections between rods and OFF cone bipolar cells in the rabbit retina
Authors: Li Wei , Keung Joyce W. , Massey Stephen C.
Published: May 2004

Mammalian retinal circuits are broadly divided into rod and cone pathways, responsible for dark‐ and light‐adapted vision, respectively. The classic rod pathway employs a single type of rod bipolar cell, which synapses with AII amacrine cells. AII amacrine cells then pass the signal to ON and OFF cone bipolar cells, respectively. Alternatively, rod signals may enter cones via gap junctions between rods and cones, and then pass from cones to cone bipolar cells. Thus, this second rod pathway does not utilize rod bipolar cells. Finally, in rodents, a third rod pathway, involving direct connections between rods and certain OFF cone bipolar cells, has been suggested. In this study, 56 OFF cone bipolar cells in the rabbit retina were dye‐injected with Lucifer Yellow and their photoreceptor connections were examined by confocal microscopy in wholemount. The locations of rod and cone terminals were marked with antibodies to mGluR6 or synaptic proteins. Most OFF cone bipolar dendrites terminated at cone pedicles but some made potential contacts with rod spherules. The synaptic nature of these sites was confirmed by the presence of GluR2 receptors. All three OFF bipolar cell types had dendrites that terminated at rod spherules. However, ∼80% of Ba2 and Ba3, but only 26% of Ba1 OFF cone bipolar cells made rod contacts. This variability suggests differential rod input to certain retinal pathways. In summary, we report anatomical evidence for direct connections between rods and OFF cone bipolar cells in a nonrodent mammal. Our data suggest that this alternative rod pathway may be a common feature of the mammalian retina. J. Comp. Neurol. 474:1–12, 2004. © 2004 Wiley‐Liss, Inc.
Postnatal development of cholinergic synapses on mouse spinal motoneurons
Authors: Wilson Jennifer M. , Rempel Jeremy , Brownstone Robert M.
Published: May 2004

Following birth, when mammals are relatively immobile, significant development of the motor system facilitates weight bearing and locomotion. Prominent cholinergic C‐terminals develop on somata and proximal dendrites of spinal motoneurons during this time period. It is hypothesized that these terminals are essential in regulating motoneuron excitability and thus their development contributes to motor system maturation. Therefore, the development of pre‐ and postsynaptic components of the C‐terminal synapse on motoneurons in mice during the early postnatal period was investigated. Fluorescence immunohistochemical studies revealed that developmental increases in punctate labeling of presynaptic cholinergic terminals, as visualized by vesicular acetylcholine transporter immunoreactivity (VAChT‐IR) corresponded to the progressive expression and spatial restriction of immunoreactivity for the calcium channel subunit α12.2 (N‐type) located presynaptically and the muscarinic type 2 acetylcholine receptor situated postsynaptically. In addition, clustering of immunoreactivity for the potassium channel subunit KV2.1 occurred within the early postnatal period in concert and colocalized with the maturation of the C‐terminals. The time course of development of these components of the C‐terminal synapse corresponds to the maturation of the motor system that enables the animal to locomote in an adult‐like fashion. J. Comp. Neurol. 474:13–23, 2004. © 2004 Wiley‐Liss, Inc.
Brain mapping of three somatostatin encoding genes in the goldfish
Authors: Canosa Luis Fabián , Cerdá‐Reverter José Miguel , Peter Richard Ector
Published: May 2004

In the present study the brain distribution of three somatostatin (SRIF)‐encoding genes, PSS‐I, PSS‐II, and PSS‐III, was analyzed by in situ hybridization (ISH) in the goldfish. The PSS‐I mRNA showed the widest distribution throughout the brain, whereas PSS‐II transcripts were restricted to some hypothalamic nuclei. On the other hand, PSS‐III presents an intermediate distribution pattern. All SRIF encoding genes are expressed in hypophysiotropic nuclei supporting the idea that, in addition to SRIF‐14, [Pro2] SRIF‐14, and gSRIF‐28 have pituitary‐controlling functions. Moreover, each of the genes is expressed in nuclei directly associated with feeding behavior, suggesting a role for SRIF peptides in the central control of food intake and energy balance. Alternatively, they might have a role in processing sensory information related with feeding behavior, since PSS genes are expressed in the main gustatory, olfactory, and visual centers, which project to the hypothalamic feeding center in teleost fish. J. Comp. Neurol. 474:43–57, 2004. © 2004 Wiley‐Liss, Inc.