Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 158
Filter
1.
Acta Medica Philippina ; : 1-12, 2024.
Article in English | WPRIM (Western Pacific) | ID: wpr-1006392

ABSTRACT

Background@#As social media continue to grow as popular and convenient tools for acquiring and disseminating health information, the need to investigate its utilization by laypersons encountering common medical issues becomes increasingly essential. @*Objectives@#This study aimed to analyze the content posted in Facebook groups for Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency and how these engage the members of the group. @*Methods@#This study employed an inductive content analysis of user-posted content in both public and private Facebook groups catering specifically to G6PD deficiency. The G6PD Facebook groups with 10 or more posts within the past 12 months were selected for this study. Data were harvested from posts and comments using ExportComment. @*Results@#A total of 46 G6PD-related Facebook groups were identified. Of which, 19 were public and 27 were private groups, with an average membership of 5000-6000 accounts. After eligibility based on criteria and authorization for private groups, 3 public and 3 private groups were included, with the majority of these groups focused on sharing information. Five main themes of posted content were identified: diagnosis, management, beliefs, psychosocial factors, and medical requirements. “Diagnosis”-related posts referred to conversations about the causes and symptoms of G6PD, “management” referred to medication or diet, “beliefs” involved traditional or lay perceptions, “psychosocial factors” referred to posts that disclosed how psychosocial factors influenced G6PD deficiency practices, and “medical requirements” referred to documentation regarding the condition. The bulk of these posts used three strategies for communication: information-requesting, self-disclosure, and promotion of products/services. Information requests were the most common. @*Conclusion@#The results of the study showed opportunities and challenges in health education on G6PD, especially in evaluating the credibility and accuracy of the information given and received. Looking at the content and manner of communicating information noted, the newborn screening program may improve its advocacy and education campaign, and may develop targeted educational materials and effective dissemination strategies that could clarify, explain, or refute information and beliefs mostly shared on these platforms.


Subject(s)
Glucosephosphate Dehydrogenase Deficiency , Self-Help Groups
2.
Eval Program Plann ; 97: 102228, 2023 04.
Article in English | MEDLINE | ID: mdl-36708698

ABSTRACT

To understand the impact of the international Master's programmes offered at the Institute of Development Policy (University of Antwerp), a theory-based evaluation was undertaken. In the first phase, a Theory of Change (ToC) was elaborated, distinguishing between three levels of impact (individual, organisational and societal), four learning dimensions (knowledge, skills, attitudes and networks) and five implicit pathways (change agent, social network, widening access, academic diversity, international understanding). Given the multifaceted and vague nature of the 'impact' concept under study, we selected an international, gender-balanced, multi-sectoral team of alumni researchers who fostered inclusiveness of different perspectives, at the same time capitalising on their depth of understanding, having gone through the study experience themselves. A mixed-methods approach was adopted to validate the ToC, combining a Most Significant Change approach, categorisation and text analysis of 101 alumni impact stories. Our findings demonstrate the importance of the three levels of impact and four learning dimensions in capturing graduate impact. While the impact stories confirmed the dominant 'change agent' pathway, they also hinted at the importance of hybrid complementary configurations of pathways to fully grasp how impact materialises.


Subject(s)
Clinical Competence , Curriculum , Humans , Program Evaluation , Research Design , Health Services Research
3.
Int J Obstet Anesth ; 53: 103613, 2023 02.
Article in English | MEDLINE | ID: mdl-36564271

ABSTRACT

BACKGROUND: Previous research has shown that, in comparison with non-pregnant women of reproductive age, pregnant women with COVID-19 are more likely to be admitted to critical care, receive invasive ventilation, and die. At present there are limited data in relation to outcomes and healthcare utilisation following hospital discharge of pregnant and recently pregnant women admitted to critical care. METHODS: A national cohort study of pregnant and recently pregnant women who were admitted to critical care in Scotland with confirmed or suspected COVID-19. We examined hospital outcomes as well as hospital re-admission rates. RESULTS: Between March 2020 and March 2022, 75 pregnant or recently pregnant women with laboratory-confirmed COVID-19 were admitted to 24 Intensive Care Units across Scotland. Almost two thirds (n=49, 65%) were from the most deprived socio-economic areas. Complete 90-day acute hospital re-admission data were available for 74 (99%) patients. Nine (12%) women required an emergency non-obstetric hospital re-admission within 90 days. Less than 5% of the cohort had received any form of vaccination. CONCLUSIONS: This national cohort study has demonstrated that pregnant or recently pregnant women admitted to critical care with COVID-19 were more likely to reside in areas of socio-economic deprivation, and fewer than 5% of the cohort had received any form of vaccination. More targeted public health campaigning across the socio-economic gradient is urgently required.


Subject(s)
COVID-19 , Pregnancy Complications, Infectious , Pregnancy , Female , Humans , Male , Cohort Studies , Intensive Care Units , Critical Care , Scotland/epidemiology , Pregnancy Complications, Infectious/epidemiology , Pregnancy Complications, Infectious/therapy
4.
New Dir Stud Leadersh ; 2021(169): 111-119, 2021 03.
Article in English | MEDLINE | ID: mdl-33871944

ABSTRACT

This chapter will advance understanding on how leadership learning occurs in graduate and professional school contexts and suggests how social class should be considered in the planning, implementation, and outcomes of preparing individuals to lead in their fields of choice.


Subject(s)
Consciousness , Leadership , Education, Graduate , Humans , Learning , Schools
5.
J Intensive Care Soc ; 19(1): 64-68, 2018 Feb.
Article in English | MEDLINE | ID: mdl-29456605

ABSTRACT

A patient suffered significant bleeding during an attempt at percutaneous dilatational tracheostomy due to an aberrant anterior jugular vein. Bleeding was controlled with pressure temporarily, but quickly returned necessitating conversion to an open technique. We present an algorithm for the management of significant peri-procedural bleeding during this procedure.

6.
Resuscitation ; 118: 82-88, 2017 09.
Article in English | MEDLINE | ID: mdl-28689046

ABSTRACT

BACKGROUND: The PARAMEDIC cluster randomised trial evaluated the LUCAS mechanical chest compression device, and did not find evidence that use of mechanical chest compression led to an improvement in survival at 30 days. This paper reports patient outcomes from admission to hospital to 12 months after randomisation. METHODS: Information about hospital length of stay and intensive care management was obtained through linkage with Hospital Episode Statistics and the Intensive Care National Audit and Research Centre. Patients surviving to hospital discharge were approached to complete questionnaires (SF-12v2, EQ-5D, MMSE, HADS and PTSD-CL) at 90days and 12 months. The study is registered with Current Controlled Trials, number ISRCTN08233942. RESULTS: 377 patients in the LUCAS arm and 658 patients in the manual chest compression were admitted to hospital. Hospital and intensive care length of stay were similar. Long term follow-up assessments were limited by poor response rates (53.7% at 3 months and 55.6% at 12 months). Follow-up rates were lower in those with worse neurological function. Among respondents, long term health related quality of life outcomes and emotional well-being was similar between groups. Cognitive function, measured by MMSE, was marginally lower in the LUCAS arm mean 26.9 (SD 3.7) compared to control mean 28.0 (SD 2.3), adjusted mean difference -1.5 (95% CI -2.6 to -0.4). CONCLUSION: There were no clinically important differences identified in outcomes at long term follow-up between those allocated to the mechanical chest compression compared to those receiving manual chest compression.


Subject(s)
Cardiopulmonary Resuscitation/methods , Heart Massage/methods , Out-of-Hospital Cardiac Arrest/therapy , Patient Reported Outcome Measures , Quality of Life , Cardiopulmonary Resuscitation/instrumentation , Case-Control Studies , Heart Massage/instrumentation , Humans , Intensive Care Units/statistics & numerical data , Length of Stay/statistics & numerical data , Odds Ratio , Out-of-Hospital Cardiac Arrest/mortality , Prospective Studies , Surveys and Questionnaires , Survivors/statistics & numerical data
7.
J Hosp Infect ; 97(4): 353-356, 2017 Dec.
Article in English | MEDLINE | ID: mdl-28577923

ABSTRACT

The reports of outbreaks involving carbapenemase-resistant Enterobacteriaceae (CRE) associated with gastrointestinal endoscopy prompted a review and study of a novel method of assessing cleaning. This study assessed adenosine triphosphate (ATP) bioluminescence to demonstrate cleanliness prior to endoscopy. ATP testing was compared with microbiological monitoring for 127 endoscopes. Samples were taken after cleaning, reprocessing and storage, but immediately before the endoscopy procedure. We recommend implementing ATP testing prior to endoscopy procedures as an alternative to microbiological testing at periodic intervals. ATP testing provides a convenient assessment of endoscopy hygiene to demonstrate safety and quality assurance.


Subject(s)
Adenosine Triphosphate/analysis , Decontamination/methods , Decontamination/standards , Endoscopes/microbiology , Luminescent Measurements/methods , Humans
8.
Bull Environ Contam Toxicol ; 98(5): 638-642, 2017 May.
Article in English | MEDLINE | ID: mdl-28289806

ABSTRACT

This study was conducted to measure 17ß-estradiol (E2) levels in Laguna de Bay, Philippines and to examine feral male common carp for evidence of exposure to estrogenic pollutants. Analysis of water samples revealed E2 concentrations of 630 and 550 ng/L from the east and west bay of the lake, respectively. Plasma vitellogenin (VTG) in captured fish ranged from 506 to 4083 ng/mL. In comparison to the reference and west bay groups, fish from the east bay had higher plasma VTG concentrations and reduced gonadosomatic index (GSI). Ovotestis was not observed although some individuals had endocrine-related histopathological alterations in the testis. The degree of biologic effects induced by estrogenic pollutants in tropical freshwater systems like Laguna de Bay need to be further investigated to provide a better comprehension of the fates and effects of these compounds under tropical conditions.


Subject(s)
Bays/chemistry , Carps/blood , Estradiol/analysis , Estrogens/toxicity , Lakes/chemistry , Water Pollutants, Chemical/toxicity , Animals , Male , Philippines , Testis/drug effects , Vitellogenins/blood
9.
Resuscitation ; 109: 110-115, 2016 12.
Article in English | MEDLINE | ID: mdl-27886777

ABSTRACT

AIM: This study explores why resuscitation is withheld when emergency medical staff arrive at the scene of a cardiac arrest and identifies modifiable factors associated with this decision. METHODS: This is a secondary analysis of unselected patients who sustained an out of hospital cardiac arrest attended by ambulance vehicles participating in a randomized controlled trial of a mechanical chest compression device (PARAMEDIC trial). Patients were categorized as 'non-resuscitation' patients if there was a do-not-attempt-cardiopulmonary-resuscitation (DNACPR) order, signs unequivocally associated with death or resuscitation was deemed futile (15min had elapsed since collapse with no bystander-CPR and asystole recorded on EMS arrival). RESULTS: Emergency Medical Services attended 11,451 cardiac arrests. Resuscitation was attempted or continued by Emergency Medical Service staff in 4805 (42%) of cases. Resuscitation was withheld in 6646 cases (58%). 711 (6.2%) had a do not attempt resuscitation decision, 4439 (38.8%) had signs unequivocally associated with death and in 1496 cases (13.1%) CPR was considered futile. Those where resuscitation was withheld due to futility were characterised by low bystander CPR rates (7.2%) and by being female. CONCLUSIONS: Resuscitation was withheld by ambulance staff in over one in ten (13.1%) victims of out of hospital cardiac arrest on the basis of futility. These cases were associated with a very low rate of bystander CPR. Future studies should explore strengthening the 'Chain of Survival' to increase the community bystander CPR response and evaluate the effect on the numbers of survivors from out of hospital cardiac arrest.


Subject(s)
Cardiopulmonary Resuscitation/statistics & numerical data , Emergency Medical Services/methods , Medical Futility , Out-of-Hospital Cardiac Arrest/mortality , Resuscitation Orders , Withholding Treatment/statistics & numerical data , Adult , Aged , Aged, 80 and over , Death , Emergency Medical Services/statistics & numerical data , Female , Humans , Male , Middle Aged , Time-to-Treatment
10.
Public Health Genomics ; 15(3-4): 164-71, 2012.
Article in English | MEDLINE | ID: mdl-22488459

ABSTRACT

Identification of genomic determinants of complex disorders such as cancer, diabetes and cardiovascular disease has prompted public health systems to focus on genetic service delivery for prevention of these disorders, adding to their previous efforts in birth defects prevention and newborn screening. This focus is consistent with previously identified obligations of the public health system as well as the core functions of public health identified by the Institute of Medicine. Models of service delivery include provision of services by the primary care provider in conjunction with subspecialists, provision of services through the medical home with co-management by genetics providers, provision of services in conjunction with disorder-specific treatment centers, and provision of services through a network of genetics clinics linked to medical homes. Whatever the model for provision of genetic services, tools to assist providers include facilities for outreach and telemedicine, information technology, just-in-time management plans, and emergency management tools. Assessment tools to determine which care is best are critical for quality improvement and development of best practices. Because the workforce of genetics providers is not keeping pace with the need for services, an understanding of the factors contributing to this lag is important, as is the development of an improved knowledge base in genomics for primary care providers.


Subject(s)
Genetic Services/organization & administration , Genome, Human , Genomics/methods , Cystic Fibrosis/genetics , Evidence-Based Medicine , Genetics , Genetics, Medical/methods , Hemophilia A/genetics , Humans , Infant, Newborn , Medical Records Systems, Computerized , Neonatal Screening/methods , Patient-Centered Care , Primary Health Care/organization & administration , Public Health , Risk Factors , Telemedicine/methods
11.
Int J Nurs Educ Scholarsh ; 5: Article7, 2008.
Article in English | MEDLINE | ID: mdl-18312228

ABSTRACT

This paper reports on the effectiveness of an intervention designed to improve nursing students' conceptual understanding of decimal numbers. Results of recent intervention studies have indicated some success at improving nursing students' numeracy through practice in applying procedural rules for calculation and working in real or simulated practical contexts. However, in this we identified a fundamental problem: a significant minority of students had an inadequate understanding of decimal numbers. The intervention aimed to improve nursing students' basic understanding of the size of decimal numbers, so that, firstly, calculation rules are more meaningful, and secondly, students can interpret decimal numbers (whether digital output or results of calculations) sensibly. A well-researched, time-efficient diagnostic instrument was used to identify individuals with an inadequate understanding of decimal numbers. We describe a remedial intervention that resulted in significant improvement on a delayed post-intervention test. We conclude that nurse educators should consider diagnosing and, as necessary, plan for remediation of students' foundational understanding of decimal numbers before teaching procedural rules.


Subject(s)
Education, Nursing, Baccalaureate/methods , Mathematics , Clinical Competence , Drug Dosage Calculations , Educational Measurement/methods , Humans , Nursing Evaluation Research , Teaching/methods
12.
Pathol Biol (Paris) ; 53(8-9): 539-45, 2005.
Article in French | MEDLINE | ID: mdl-16084034

ABSTRACT

PURPOSE OF THE STUDY: The aim of this study was the description of enterococcal bacteremia and the evaluation of their resistance evolution to antibiotics and the virulence profile of these isolates. PATIENTS AND METHODS: We have studied all the bacteremia caused by Enterococcus spp. from the 1st of July 2003 until the 30th of June 2004 at Nîmes university hospital. For each isolate, population, clinical and microbiological data were collected. Multiplex PCR allowed for the identification of glycoprotein resistant phenotypes and furthermore, to identify the main virulence genes found in the enterococci. RESULTS: Thirty-three strains were identified from 33 patients (60.6% male) with a median age of 68 years (median: 3-96). The vital prognostic was calculated in 63.6% of the cases (MacCabe > or =1); seven patients died during their hospitalization (21.2%). The infections were nosocomial in 60.6% of the cases. No epidemic was observed. The principal comorbidities were cardiovascular and digestive pathologies. In addition, 54.5% of patients had had a surgical intervention. Enterococcus faecalis (87.9%) was the cause of infection in the majority of cases followed by Enterococcus faecium. Most of the infections were monomicrobial (75.8%). E. faecalis was sensitive to amoxicillin and to glycopeptides but was resistant to norfloxacin, erythromycin and pristinamycin. The same observations were made for the E. faecium with the exception of amoxicillin. E. faecalis had the maximum number of virulence genes and E. faecium the least. CONCLUSION: The enterococcal bacteremia had mainly a nosocomial origin. The isolates came from digestive tract flora but also from catheters. The mortality rate was 21.2%. A developing sensitivity to erythromycin and pristinamycin was observed in comparison to the data of the ONERBA (2002-2003). Only one isolate was resistant to glycopeptide. This was the first European E. faecium containing the vanD allele. This isolate proved fatal to the patient. The dark evolution of enterococcal bacteremia and their frequent nosocomial origin induce to promote studies intended for better knowing the risk factors of such infections.


Subject(s)
Bacteremia/epidemiology , Enterococcus , Gram-Positive Bacterial Infections/epidemiology , Adolescent , Adult , Aged , Aged, 80 and over , Bacteremia/mortality , Child , Child, Preschool , Cross Infection/epidemiology , Cross Infection/mortality , Enterococcus/isolation & purification , Enterococcus/pathogenicity , Female , France/epidemiology , Gram-Positive Bacterial Infections/mortality , Hospitals, University , Humans , Male , Middle Aged , Prospective Studies , Survival Analysis , Virulence
13.
Theor Appl Genet ; 108(4): 759-64, 2004 Feb.
Article in English | MEDLINE | ID: mdl-14586507

ABSTRACT

The presence of a major resistance gene (Bru1) for brown rust in the sugarcane cultivar R570 (2n about 115) was confirmed by analyzing segregation of rust resistance in a large population of 658 individuals, derived from selfing of clone R570. A subset of this population was analyzed with AFLP and bulked segregant analysis (BSA) to develop a detailed genetic map around the resistance gene. Four hundred and forty three primer pairs were used resulting in the identification of eight AFLP markers surrounding the resistance gene in an interval of 10 cM, with the closest markers located at 1.9 and 2.2 cM on each side of the gene. Efficiency of the AFLP/BSA applied to the complex polyploid genome of sugarcane is discussed, as well as the potential of the newly identified AFLP markers for developing a map-based cloning approach exploiting, synteny conservation with sorghum.


Subject(s)
Chromosome Mapping , Immunity, Innate/genetics , Plant Diseases/microbiology , Saccharum/genetics , Basidiomycota , DNA Primers , Polymorphism, Restriction Fragment Length , Saccharum/microbiology
14.
Clin Ther ; 23(4): 578-84, 2001 Apr.
Article in English | MEDLINE | ID: mdl-11354391

ABSTRACT

BACKGROUND: A new oral pharmacokinetically enhanced formulation of the broad-spectrum antibiotic amoxicillin/clavulanate has been developed to provide more effective therapy against resistant pathogens than is provided by currently available formulations by maintaining therapeutically useful plasma amoxicillin concentrations for a longer period after dosing. OBJECTIVE: This study explored the pharmacokinetics of the new oral formulation of amoxicillin/clavulanate in healthy male and female subjects. METHODS: A single oral dose of pharmacokinetically enhanced amoxicillin/clavulanate (2000/125 mg; 16:1 ratio) was administered to subjects at the start of a meal. After dosing, blood samples were collected at frequent intervals up to 12 hours, and plasma was assayed for amoxicillin and clavulanate concentrations using validated procedures. The new formulation consisted of 1 layer of immediate-release amoxicillin and clavulanate and another of sustained-release amoxicillin in a proportion such that for an amoxicillin minimum inhibitory concentration (MIC) of 4 microg/mL, the time above the MIC (T >MIC) would be approximately > or = 40% over a 12-hour dosing interval. RESULTS: The study enrolled 24 and 31 healthy male and female subjects, respectively. Their mean age was 35 years (range, 18-58 years) and mean body weight was 69 kg (range, 51-86 kg). After the expected sharp peak in plasma amoxicillin concentration, there appeared to be a slower decline with the pharmacokinetically enhanced formulation than is usually seen with conventional formulations, and there was evidence of a second amoxicillin absorption phase. The mean T >MIC for an amoxicillin MIC of 4 microg/mL was 49.4% of a 12-hour dosing interval, a value that cannot be achieved with existing approved doses and formulations of amoxicillin/clavulanate. By 12 hours, plasma amoxicillin concentrations were very low (approximately 0.05 microg/mL), suggesting no expectation of notable dose-to-dose accumulation on repeat dosing with a BID regimen. The terminal half-lives of amoxicillin (1.27 hours) and clavulanate (1.03 hours) with the new formulation were similar to those of existing formulations of amoxicillin/clavulanate. No deaths or serious adverse events were reported. CONCLUSIONS: The enhanced pharmacokinetic profile of amoxicillin/clavulanate seen in this study suggests that this formulation is likely to be highly effective for the oral treatment of infections caused by bacteria--including beta-lactamase-producing organisms--and strains with amoxicillin MICs < or = 4 microg/mL.


Subject(s)
Amoxicillin/pharmacokinetics , Anti-Bacterial Agents/pharmacokinetics , Clavulanic Acid/pharmacokinetics , Penicillins/pharmacokinetics , Adolescent , Adult , Area Under Curve , Drug Combinations , Female , Humans , Male , Middle Aged
16.
Clin Pharmacokinet ; 39(4): 243-54, 2000 Oct.
Article in English | MEDLINE | ID: mdl-11069211

ABSTRACT

Ropinirole is a selective non-ergoline dopamine D2 receptor agonist indicated for use in treating Parkinson's disease. When taken as oral tablets, ropinirole is rapidly and almost completely absorbed, and it is extensively distributed from the vascular compartment. The bioavailability is approximately 50%. Ropinirole shows low plasma protein binding. The drug is inactivated by metabolism in the liver, and none of the major circulating metabolites have pharmacological activity. The principal metabolic enzyme is the cytochrome P450 (CYP) isoenzyme CYP1A2. Ropinirole shows approximately linear pharmacokinetics when given as single or repeated doses, and is eliminated with a half-life of approximately 6 hours. Population pharmacokinetics have demonstrated that gender, mild or moderate renal impairment, Parkinson's disease stage and concomitant illnesses or the use of several common concomitant medications have no effect on the pharmacokinetics of ropinirole. Clearance is slower for patients older than 65 years compared with those who are younger, and in women taking hormone replacement therapy compared with those who are not. The CYP1A2 inhibitor ciprofloxacin produced increases in the plasma concentrations of ropinirole when these 2 drugs were coadministered, but no interaction was seen with theophylline which, like ropinirole, is also a substrate for CYP1A2. There is no obvious plasma concentration-effect relationship for ropinirole.


Subject(s)
Dopamine Agonists , Indoles , Administration, Oral , Age Distribution , Aged , Area Under Curve , Dopamine Agonists/adverse effects , Dopamine Agonists/metabolism , Dopamine Agonists/pharmacokinetics , Dopamine Agonists/therapeutic use , Drug Interactions , Female , Half-Life , Humans , Indoles/adverse effects , Indoles/metabolism , Indoles/pharmacokinetics , Indoles/pharmacology , Indoles/therapeutic use , Intestinal Absorption , Male , Metabolic Clearance Rate , Middle Aged , Parkinson Disease/drug therapy , Sex Distribution
17.
Acad Med ; 75(3): 303-13, 2000 Mar.
Article in English | MEDLINE | ID: mdl-10724325

ABSTRACT

The authors of this article, who were the members and staff of a research panel formed by the AAMC as part of its mission-based management initiative, reflect on the growing interest in quantitative information in the management of the research mission of medical schools. They note the serious limitations of any such system of measures for research, particularly its inability to represent directly the quality of the research effort. Despite these concerns, the authors acknowledge that leaders in academic medicine have always used quantitative measures in one form or another to compare performance or assess progress. Two factors appear to be driving increases in this practice: (1) the need to demonstrate to institutional stakeholders that resources are being used wisely and that the school's performance justifies continued investment in the research mission; and (2) the need to fashion an economic strategy to manage precious institutional resources, particularly research space. Given these realities, the authors offer guidelines for the proper development and use of measures to assess contributions by faculty, departments, and institutions to the research mission. They also comment on the measures most commonly used in four areas: grants and other revenue-generating activities; publications; faculty members' research reputation and contributions to the national research enterprise; and support to the general research mission of the school. The authors conclude that quantitative information can help institutional leaders in important management decisions. However, the potential for misuse is great. The key is always to regard this information as an aid to judgment, not a substitute for it.


Subject(s)
Research Support as Topic , Research , Schools, Medical , Schools, Medical/organization & administration , Weights and Measures
18.
Health Serv J ; 109(5654): 24-5, 1999 May 13.
Article in English | MEDLINE | ID: mdl-10537528

ABSTRACT

Special hospitals are facing their third major upheaval in a decade with their proposed assimilation into mental health trusts. Their size is likely to continue to decrease. But the need for them remains. Patients' needs would be best served by smaller hospitals offering more specialised care, closely integrated with other forensic services.


Subject(s)
Hospital Restructuring , Hospitals, Psychiatric/organization & administration , Prisoners , Forensic Psychiatry , Hospital Bed Capacity , Hospitals, Psychiatric/standards , Humans , Mental Disorders/rehabilitation , Security Measures , State Medicine/organization & administration , United Kingdom
20.
Am J Med Genet ; 85(5): 455-62, 1999 Aug 27.
Article in English | MEDLINE | ID: mdl-10405442

ABSTRACT

Deletions of chromosome 18q are among the most common segmental aneusomies compatible with life. The estimated frequency is approximately 1/40,000 live births [Cody JD, Pierce JF, Brkanac Z, Plaetke R, Ghidoni PD, Kaye CI, Leach RJ. 1997. Am. J. Med. Genet. 69:280-286]. Most deletions are terminal encompassing as much as 36 Mb, but interstitial deletions have also been reported. We have evaluated 42 subjects with deletions of 18q at our institution. This is the largest number of individuals with this chromosome abnormality studied by one group of investigators. Here we report the physical findings in these individuals. We have compared our findings with those of previously reported cases and have found a significantly different incidence of several minor anomalies in our subjects. We also describe here several anomalies not previously reported in individuals with deletions of 18q, including short frenulum, short palpebral fissures, disproportionate short stature, overlap of second and third toes, and a prominent abdominal venous pattern. Characteristics found in subjects were analyzed for correlation with cytogenetic breakpoints. Several traits were found to correlate with the extent of the deletion. Large deletions were associated with significantly decreased head circumference and ear length as well as the presence of proximally placed and/or anomalous thumbs. Individuals with the smallest deletions were more likely to have metatarsus adductus. Although relatively few genotype/phenotype correlations were apparent, these data demonstrate that correlations with breakpoint are possible. This implies that more correlations will become evident when the more precise molecularly based genotyping is completed. These correlations will identify critical regions on the chromosome in which genes responsible for specific abnormal phenotypes are located.


Subject(s)
Anthropometry , Chromosome Deletion , Chromosomes, Human, Pair 18 , Congenital Abnormalities/genetics , Adolescent , Adult , Birth Weight , Child , Child, Preschool , Chromosome Mapping , Congenital Abnormalities/classification , Female , Humans , Infant , Male , Registries , Texas
SELECTION OF CITATIONS
SEARCH DETAIL
...