Referral patterns to an ophthalmic outpatient clinic by general practitioners and ophthalmic opticians and the role of these professionals in screening for ocular disease.

Case notes of 1113 consecutive new patients referred to a consultant ophthalmologist at a district general hospital were reviewed to determine the source and efficacy of referrals and the current screening practices of general practitioners and ophthalmic opticians. General practitioners initiated referral in 546 cases (49%) and ophthalmic opticians referral in 439 (39%). Visual loss or visual disturbance was the most important single reason for referral (345 cases; 31%), followed by suspected glaucoma (145 cases; 13%), abnormalities of binocular vision (140; 12.5%), disorders of eyelids or ocular adnexa (127; 11%), and red eye (86; 8%). General practitioners referred many more patients with disorders of the eyelids and adnexa and ophthalmic opticians many more patients with suspected glaucoma. Ophthalmic opticians were far more likely than general practitioners to refer patients with suspected glaucoma correctly. A total of 180 patients (16%) were referred from ocular screening, in 149 cases by ophthalmic opticians and in 10 by general practitioners. Seventy patients had glaucoma or incomplete features of glaucoma, all of them referred by ophthalmic opticians. Of eight diabetic patients referred by ophthalmic opticians, three had asymptomatic disease and in two diabetes was diagnosed as a result of ocular screening. No patient was referred for asymptomatic diabetic retinopathy from screening by general practitioners. Ophthalmic opticians were more likely than general practitioners to diagnose retinopathy requiring photocoagulation. Use of a community based service to screen for glaucoma could save unnecessary consultant outpatient appointments. A similar service could facilitate detection of diabetic retinopathy at a stage when treatment is most effective.     

Sources and patterns of referrals of oral cancer: role of general practitioners.

Referrals of patients with oral squamous cell carcinomas to an oral medicine clinic were assessed with regard to the sources, delays, and pattern of referrals from general medical practitioners and general dental practitioners. Slightly more patients were referred by dental practitioners than by medical practitioners, but general medical practitioners were far more likely to see advanced tumours and to request an urgent second opinion or suggest a diagnosis of malignant disease. The greatest delay overall was caused by the patients in seeking advice from their practitioner, particularly those who attended a general medical practitioner. Both groups of practitioners requested a hospital opinion within roughly a month--a reasonable interval. Subsequent delays were minimal. Delays occur mainly because the patients are slow in seeking professional advice and, in general, do not appear to have been reduced over the decade since a previous British study on referral patterns was carried out. This study emphasises the importance of educating patients about oral cancer since it is they who appear to be mainly responsible for the delays in diagnosis. The results also help to dispel the myth that general medical practitioners might be less competent at diagnosis and referral of patients with oral cancer than are dental practitioners, though we are aware of misdiagnoses from both groups.     

Reconstructive breast surgery: referring physician knowledge and learning needs

Despite the positive impact that reconstructive breast surgery can have on a woman's quality of life, the percentage of eligible candidates that have this procedure remains surprisingly low. The authors hypothesized that this may be attributable to inadequate knowledge, inadequate information, and/or misinformation available to physicians caring for these patients. A needs assessment of primary care physicians, general surgeons, oncologists, and plastic surgeons was conducted to determine referring physicians' current level of knowledge of reconstructive breast surgery and to discover potential learning needs. This comprised a survey, focus groups, and individual interviews. Referring physicians rated their own knowledge of reconstructive breast surgery as low. Plastic surgeons rated their referring physicians' knowledge as even lower. Specific learning needs were identified, as large discrepancies between referring physicians' self-reported knowledge of individual breast reconstruction topics and their own opinion of their relevance were revealed. In addition, despite evidence to the contrary, more than one-third of referring physicians indicated a belief that a breast reconstruction delayed the detection of local cancer recurrence and adversely interfered with adjuvant oncologic therapy. This lack of knowledge and misinformation may be negatively affecting patient referrals to plastic surgeons, as more than one-third of referring physicians and 90 percent of plastic surgeons believed that eligible candidates were not being offered referrals because of inadequate referring physician knowledge of this topic. Furthermore, patients older than 49 years were not being referred despite the fact that plastic surgeons would consider these patients as potential surgical candidates. Referring physician gender affected both referral patterns and perceived importance of reconstructive breast surgery. Finally, personal beliefs and past experiences played a role both in physicians' decisions to refer patients and in patients' decisions to have breast reconstructions. These deficiencies in information, knowledge, and learning needs should be addressed by educational interventions during residency training and through continuing education endeavors.     

Molecular biology of amyotrophic lateral sclerosis: insights from genetics

Amyotrophic lateral sclerosis (ALS) is a paralytic disorder caused by motor neuron degeneration. Mutations in more than 50 human genes cause diverse types of motor neuron pathology. Moreover, defects in five Mendelian genes lead to motor neuron disease, with two mutations reproducing the ALS phenotype. Analyses of these genetic effects have generated new insights into the diverse molecular pathways involved in ALS pathogenesis. Here, we present an overview of the mechanisms for motor neuron death and of the role of non-neuronal cells in ALS.     

Open access echocardiography in management of heart failure in the community.

OBJECTIVE--To assess the value of an open access echocardiography service. DESIGN--Study of new open access service for general practitioners, who were invited to refer patients taking diuretics for suspected heart failure, untreated patients with symptoms of possible heart failure, and asymptomatic patients with risk factors for left ventricular systolic dysfunction. SETTING--Regional cardiology centre. SUBJECTS--259 consecutive patients. MAIN OUTCOME MEASURES--Presence or absence of left ventricular systolic dysfunction and consequent changes in clinical management. RESULTS--119 treated patients, 99 untreated patients, and nine asymptomatic patients were referred over five months. 32 were considered to be inappropriately referred. Among the treated patients, 31 had impaired left ventricular systolic function and five had valvular disease; angiotensin converting enzyme inhibitors were recommended for 34 of these patients. In addition, 53 were thought not to need diuretics. Eight untreated patients had impaired systolic function and six valvular disease. CONCLUSIONS--The service was well used by general practitioners and led to advice to change management in more than two thirds of patients.     

Mortality among doctors in different occupations.

A total of 20540 male doctors who replied to a questionnaire on their smoking habits that was sent to them on 1 November 1951, and who were aged 35 years and over, were classified according to their occupation as listed in the Medical Directory for 1952 and followed up until 1 November 1971. Examination of the mortality rates in 11 occupational groups showed gross heterogeneity for smoking-related diseases but not for all other diseases grouped together. On average, general practitioners smoked 37% more cigarettes than did hospital physicians and surgeons and the overall death rates among general practitioners were about 23% higher than among physicians and surgeons of similar ages. This excess death rate was chiefly accounted for by a 38% excess mortality from smoking-related diseases such as lung cancer, chronic bronchitis, and ischaemic and pulmonary heart disease. The few other statistically significant associations between occupation and disease were thought to be due either to chance or to the effect of the disease on the choice of specialty.     

Selective Vulnerability of Spinal and Cortical Motor Neuron Subpopulations in delta7 SMA Mice

Loss of the survival motor neuron gene (SMN1) is responsible for spinal muscular atrophy (SMA), the most common inherited cause of infant mortality. Even though the SMA phenotype is traditionally considered as related to spinal motor neuron loss, it remains debated whether the specific targeting of motor neurons could represent the best therapeutic option for the disease. We here investigated, using stereological quantification methods, the spinal cord and cerebral motor cortex of ∆7 SMA mice during development, to verify extent and selectivity of motor neuron loss. We found progressive post-natal loss of spinal motor neurons, already at pre-symptomatic stages, and a higher vulnerability of motor neurons innervating proximal and axial muscles. Larger motor neurons decreased in the course of disease, either for selective loss or specific developmental impairment. We also found a selective reduction of layer V pyramidal neurons associated with layer V gliosis in the cerebral motor cortex. Our data indicate that in the ∆7 SMA model SMN loss is critical for the spinal cord, particularly for specific motor neuron pools. Neuronal loss, however, is not selective for lower motor neurons. These data further suggest that SMA pathogenesis is likely more complex than previously anticipated. The better knowledge of SMA models might be instrumental in shaping better therapeutic options for affected patients.     

Improving care: a study of orthopaedic outpatient referrals.

OBJECTIVE--To identify aspects of outpatient referral in which general practitioners'', consultants'', and patients'' satisfaction could be improved. DESIGN--Questionnaire survey of general practitioners, consultant orthopaedic surgeons, and patients referred to an orthopaedic clinic. SETTING--Orthopaedic clinic, Doncaster Royal Infirmary. SUBJECTS--628 consecutive patients booked into the orthopaedic clinic. MAIN OUTCOME MEASURES--Views of the general practitioners as recorded both when the referral letter was received and again after the patient had been seen, views of the consultants as recorded at the time of the clinic attendance, and views of the patients as recorded immediately after the clinic visit and some time later. RESULTS--Consultants rated 213 of 449 referrals (42.7%) as possibly or definitely inappropriate, though 373 of 451 patients (82.7%) reported that they were helped by seeing the consultant. Targets for possible improvement included information to general practitioners about available services, communication between general practitioners and consultants, and administrative arrangements in clinics. Long waiting times were a problem, and it seemed that these might be reduced if general practitioners could provide more advice on non-surgical management. Some general practitioners stated that they would value easier telephone access to consultants for management advice. It was considered that an alternative source of management advice on musculoskeletal problems might enable more effective use to be made of specialist orthopaedic resources. Conclusion--A survey of patients'' and doctors'' views of referrals may be used to identify aspects in which the delivery of care could be made more efficient. Developing agreed referral guidelines might help general practitioners to make more effective use of hospital services.     

Motor network degeneration in amyotrophic lateral sclerosis: a structural and functional connectivity study

Background

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by motor neuron degeneration. How this disease affects the central motor network is largely unknown. Here, we combined for the first time structural and functional imaging measures on the motor network in patients with ALS and healthy controls.

Methodology/Principal Findings

Structural measures included whole brain cortical thickness and diffusion tensor imaging (DTI) of crucial motor tracts. These structural measures were combined with functional connectivity analysis of the motor network based on resting state fMRI. Focal cortical thinning was observed in the primary motor area in patients with ALS compared to controls and was found to correlate with disease progression. DTI revealed reduced FA values in the corpus callosum and in the rostral part of the corticospinal tract. Overall functional organisation of the motor network was unchanged in patients with ALS compared to healthy controls, however the level of functional connectedness was significantly correlated with disease progression rate. Patients with increased connectedness appear to have a more progressive disease course.

Conclusions/Significance

We demonstrate structural motor network deterioration in ALS with preserved functional connectivity measures. The positive correlation between functional connectedness of the motor network and disease progression rate could suggest spread of disease along functional connections of the motor network.     

Electromiographic and kinematic characteristics of Kung Fu Yau-Man palm strike

A kinematic and electromyographic analysis of Kung Fu (KF) Yau-Man palm strikes without impact is presented. An empirical model applied to data obtained by a high-speed camera describes the kinematic characteristics of the movement. The electromyographic patterns of the biceps brachii, brachioradialis and triceps brachii muscles were studied during the strike in the time (root mean square) and frequency (wavelet transform) domains. Eight KF practitioners participated in the investigation. A wooden board was placed in front of the subjects, and they were asked to perform the strike imagining a target above the board. The results show that the Yau-Man KF palm strike has very similar kinematic characteristics to a simple moderate speed elbow extension movement. All practitioners positioned themselves in relation to the wooden board in a way to achieve their highest hand speeds in the instant their hands crossed the board. The analyses of the electromyography data shows a well developed muscle coordination of the practitioners in agreement with kinematic results. The results of this paper are important not only for improving the performance of practitioners but also to demonstrate the applicability of KF in the process of motor control development.     

Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders

The objective of this study was to characterize and compare muscle histopathological findings in 3 different genetic motor neuron disorders. We retrospectively re-assessed muscle biopsy findings in 23 patients with autosomal dominant lower motor neuron disease caused by p.G66V mutation in CHCHD10 (SMAJ), 10 X-linked spinal and bulbar muscular atrophy (SBMA) and 11 autosomal dominant c9orf72-mutated amyotrophic lateral sclerosis (c9ALS) patients. Distinct large fiber type grouping consisting of non-atrophic type IIA muscle fibers were 100% specific for the late-onset spinal muscular atrophies (SMAJ and SBMA) and were never observed in c9ALS. Common, but less specific findings included small groups of highly atrophic rounded type IIA fibers in SMAJ/SBMA, whereas in c9ALS, small group atrophies consisting of small-caliber angular fibers involving both fiber types were more characteristic. We also show that in the 2 slowly progressive motor neuron disorders (SMAJ and SBMA) the initial neurogenic features are often confused with considerable secondary “myopathic” changes at later disease stages, such as rimmed vacuoles, myofibrillar aggregates and numerous fibers reactive for fetal myosin heavy chain (dMyHC) antibodies. Based on our findings, muscle biopsy may be valuable in the diagnostic work-up of suspected motor neuron disorders in order to avoid a false ALS diagnosis in patients without clear findings of upper motor neuron lesions.     

Craniofacial manifestations in the Marfan syndrome: palatal dimensions and a comparative cephalometric analysis

The purpose of this study was to determine how the craniofacial morphology, evaluated from dental casts and lateral cephalograms, in individuals affected by the Marfan syndrome diverge from healthy control groups. The high and narrow palatal vault as well as maxillary and mandibular retrognathy were strongly correlated to the syndrome. About 70% of the Marfan syndrome patients (n = 76) had been referred for orthodontic treatment, mostly because of crowded teeth or extreme maxillary overjet. In 36%, the orthodontic treatment was carried out before diagnosis or suspicion about the Marfan syndrome. In comparison to healthy orthodontic patients (n = 86), selected because of presence of high and narrow palatal vaults, crowding of teeth, extreme maxillary overjet, and open bite were much more prevalent in the Marfan syndrome patients than in the orthodontic control group.     

Clinical neurophysiology in ALS

Amyotrophic lateral sclerosis (ALS) belongs to a group of disorders known as motor neuron diseases. Despite being one of the most devastating diseases known, there is little evidence for diagnosing and managing patients with ALS. Clinical neurophysiologic tests are essential, when no biological marker exists to aid early diagnosis, not only in relation to diagnosis, but also in the development of disease progression, and perhaps, in the future, in measuring patients' response to therapy. The electrophysiological features used in the diagnosis of ALS are based on Awaji-shima consensus recommendations for the application of electrophysiological tests, as applied to the revised El Escorial Criteria. Measurements of axonal excitability through nerve conduction study (ENG) is useful to evaluate axonal degeneration. Electromyography (EMG) recordings with needle examination are essential for confirming lower motor neuron involvement in the initial diagnosis of ALS. EMG abnormalities are frequent and these include fibrillation potentials or positive sharp wave potentials, or both, with fasciculation potentials in resting muscle, and an incomplete interference pattern, with abnormal motor unit potentials. Collateral or terminal nerve sprouting is common in ALS and is frequent large macro-motor unit potentials (MUPs). Motor unit number estimation (MUNE) may be useful in measuring loss of functioning motor units and is an attractive endpoint measure in clinical drug trials in ALS because it directly assesses loss of lower motor neurons and is sensitive to disease progression. Transcortical magnetic stimulation protocols, and cortical excitability may be useful to assess the involvement of upper motor neuron system. In this chapter the advantages, limitations and promise of these various methods are discussed, in order to indicate the direction for further neurophysiological studies in this disorder.     

The consultation process and physician satisfaction: review of referral patterns in three urban family practice units.

To improve communication in the referral process a standard referral form was composed that seeks to involve the patient in the referral process. It has been well received by the consulted physicians, the family practitioners who use it in everyday office parctice and the patients. A review of referral patterns in general practice showed many similarities from practice to practice and from country to country. Ophthalmologists were the most frequently consulted, followed by obstetricians and gynecologists, general surgeons, otolaryngologists and orthopedic surgeons. A follow-up assessment of referral outcome revealed a poor response from the teaching clinics of one tertiary-care hospital to the referring physicians. This resulted in a substantial decrease in the proportion of patients referred from one family practice unit to the hospital over a 3-year period.     

Mice, the Motor System, and Human Motor Neuron Pathology

Motor neurons are among some of the most unusual cells in the body becaue of their immense size and their role as the critical link between the motor centers of the brain and the muscles. In addition to their intrinsic biological interest, it is vital that we gain a better understanding of these cells and their pathology, since motor neuron degenerative diseases are lethal disorders that affect young and old and are relatively common. For example, one form of spinal muscular atrophy (SMA) is the most common genetic killer of children in the developed world. Amyotrophic lateral sclerosis (ALS), another form of motor neuron degeneration, is the third most common neurodegenerative cause of adult death, after Alzheimer's disease and Parkinson's disease, and is significantly more common than multiple sclerosis (Motor Neurone Disease Association 1998). Currently, approximately 1 in 500 people in England and Wales who die have a form of motor neuron disease (Motor Neurone Disease Association 1998). Each year, 5000 Americans are diagnosed with ALS, and of these, 10% are under 40 years old. Mouse models of motor neuron degeneration are essential for understanding the causes and mechanisms of motor neuron pathology. These mice are yielding important information that will ultimately lead to treatments and potentially cures for these diseases. Received: 5 June 2000 / Accepted: 27 July 2000     

Cortical Thinning and Clinical Heterogeneity in Amyotrophic Lateral Sclerosis

Amyotrophic lateral sclerosis (ALS) has heterogeneous clinical features that could be translated into specific patterns of brain atrophy. In the current study we have evaluated the relationship between different clinical expressions of classical ALS and measurements of brain cortical thickness. Cortical thickness analysis was conducted from 3D-MRI using FreeSurfer software in 29 ALS patients and 20 healthy controls. We explored three clinical traits of the disease, subdividing the patients into two groups for each of them: the bulbar or spinal onset, the higher or lower upper motor neuron burden, the faster or slower disease progression. We used both a whole brain vertex-wise analysis and a ROI analysis on primary motor areas. ALS patients showed cortical thinning in bilateral precentral gyrus, bilateral middle frontal gyrus, right superior temporal gyrus and right occipital cortex. ALS patients with higher upper motor neuron burden showed a significant cortical thinning in the right precentral gyrus and in other frontal extra-motor areas, compared to healthy controls. ALS patients with spinal onset showed a significant cortical thinning in the right precentral gyrus and paracentral lobule, compared to healthy controls. ALS patients with faster progressive disease showed a significant cortical thinning in widespread bilateral frontal and temporal areas, including the bilateral precentral gyrus, compared to healthy controls. Focusing on the primary motor areas, the ROI analysis revealed that the mean cortical thickness values were significantly reduced in ALS patients with higher upper motor neuron burden, spinal onset and faster disease progression related to healthy controls. In conclusion, the thickness of primary motor cortex could be a useful surrogate marker of upper motor neuron involvement in ALS; also our results suggest that cortical thinning in motor and non motor areas seem to reflect the clinical heterogeneity of the disease.     

Motor neurons loss in Parkinson Disease: An electrophysiological study (MUNE)

The aim of this study was to evaluate the involvement of a peripheral motor neuron in Parkinson Disease (PD) using the motor unit number estimation (MUNE) method, which reflects motor unit loss in motor neuron diseases. Multipoint incremental MUNE method was calculated in abductor pollicis brevis (APB) and abductor digiti minimi (ADM) in forty one (41) patients with PD and forty five (45) healthy volunteers. From the analysis, the MUNE of APB was lower in PD than in the control group, especially in the sub-group aged 60 years or older. MUNE was negatively correlated with the age of patients for APB, but not with the duration of the disease and advancement of PD. The loss of motor units in sporadic Parkinson's disease revealed by multipoint incremental MUNE method is considered a sign of lower motor neuron involvement, however, loss of motor neurons is slight and does not manifest equally in all muscles . Thus, the results from this experiment should be treated with concern, as it could be a landmark for further experiments.     

Munchausen's syndrome and prophylactic mastectomy

A patient sought bilateral prophylactic mastectomies because of a strongly positive family history of breast cancer. Fortunately, prior to operation, this family history was discovered to be a fabrication by the patient. Few ablative plastic surgical procedures are done without objective criteria. Plastic surgeons relying on a positive family history as sufficient indication for bilateral prophylactic mastectomy need to be aware that such a history may be the contrivance of a patient with Munchausen's syndrome. A high index of suspicion may enable the plastic surgeon to recognize Munchausen's syndrome and thus avoid both contributing to the patient's illness and performing an unwarranted operation.     

The poliovirus sensitivity (PVS) gene is on chromosome 19q12----q13.2

Sensitivity to nonmodified poliovirus infection is an autosomal dominant trait, specific to primates. The gene for poliovirus sensitivity (PVS) is encoded on human chromosome 19. In order to sublocalize the PVS gene, we infected rodent-human hybrid cell lines that divide human chromosome 19 into four regions with poliovirus 1 and/or 3. When infected, these hybrid cell lines showed the typical cytopathic effect of poliovirus infection only if they contained 19q12----q13.2 as the smallest region of overlap. Appropriate negative and positive controls were used. PVS may be of relevance to myotonic dystrophy (DM) and the inherited motor neuron diseases: to DM because it localizes to the same region of chromosome 19 and to the inherited motor neuron diseases because it encodes a cell-surface receptor expressed on motor neurons.     

Do clinical guidelines improve general practice management and referral of infertile couples?

OBJECTIVE--To evaluate guidelines for general practice management and referral of infertile couples. Guidelines were implemented with a disease specific reminder at the time of consultation (the guidelines were embedded within a structured infertility management sheet for each couple). DESIGN--Pragmatic randomised controlled trial. Participating practices were randomised to a group that received the guidelines and a control group. SETTING--82 general practices in Grampian region. SUBJECTS--100 couples referred by general practitioners receiving the guideline and 100 couples referred by control general practitioners. MAIN OUTCOME MEASURES--Whether the general practitioner had taken a full sexual history and examined and investigated both partners appropriately. RESULTS--Characteristics of patients referred by study and control general practitioners did not differ significantly at baseline. Compliance with the guidelines increased for all targeted activities. General practitioners in the study group were more likely to take a sexual history (for example, couples'' use of fertile period, 85% v 69%, p < 0.01); examine both partners (female partner, 68% v 52%, p < 0.05; male partner 39% v 13%, p < 0.01); and investigate both partners (day 21 progesterone, 72% v 41%, p < 0.001; semen analysis, 51% v 41%, p > 0.05). Improvements were greater when general practitioners used the disease specific reminder. CONCLUSION--Receiving guidelines led to improvements in the process of care of infertile couples within general practice. This effect was enhanced when the guidelines were embedded in a structured infertility management sheet for each couple.