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PubMed1992

[Survey of Fukuyama type congenital muscular dystrophy in Tokyo].

On the 1st of April in 1988, we identified 26 children with Fukuyama type congenital muscular dystrophy (FCMD) among 1,227,000 children in Tokyo whose ages ranged from 6 to 14 years. The prevalence rate of FCMD was 2.1 per 100,000. All affected children attended special school for crippled children. Mean absence from school on account of illness was 33.9 days in a year. Fifteen among 26 affected children had ability of verbal communication. The loss of gross motor function started at ages 6-7 years but muscle weakness might have occurred earlier. Ten affected children were treated with antiepileptic drugs. Six affected children needed to be hospitalized for the treatment of vomiting with dehydration, acute bronchitis, or pertussis infection during one year until the 1st of April in 1989. Two cases among 26 with FCMD died of respiratory complications shortly after admission.

Adolescent↗
PubMed1992

Point mutational analysis of the hamster dihydrofolate reductase minimum promoter.

We have shown previously that 48 base pairs (bp) of 5'-flanking sequence are necessary for correct initiation at the major transcriptional start site of the Chinese hamster dihydrofolate reductase (dhfr) gene (Ciudad et al., 1988). As an upstream element, this sequence alone confers 25% of maximum promoter activity. The 5' half of this sequence is particularly well conserved among mammalian species; it contains one Sp1 binding site (GC box) and one CAA element. In the present work, we have analyzed the role of this region by extensive point mutational analysis. Twenty-three dhfr minigene constructs containing 1- or 2-base substitutions in this region of the promoter were tested by measuring their ability to transfect DHFR-deficient Chinese hamster ovary cells to a DHFR+ growth phenotype. Eight mutants, all in or near the GC box, exhibited reduced transfection efficiency. Promoter disfunction in these mutants was confirmed by RNase protection analysis of stable transfectants. Gel retardation experiments showed that mutants affected in the consensus sequence for Sp1 binding were deficient in binding a protein found in nuclear extracts of Chinese hamster ovary cells. Purified human transcription factor Sp1 was also unable to bind a promoter sequence bearing one of these single base substitutions, suggesting that Sp1 itself is involved in dhfr transcription in vivo. We conclude that most single base mutations in the GC box severely cripple or eliminate promoter function by inhibiting binding of transcription factors to this regulatory sequence and that Sp1 is likely to be involved in dhfr transcription in vivo. We also found that the well conserved CAA element is not absolutely necessary for transcription.

Animals↗
PubMed1991

Upper extremity wound management: intermediate infections.

A careful history and physical examination, including information regarding position of the hand at the time of injury, presence of other disease, handedness, age, and occupation, are all essential to evaluate hand infection. If surgery is anticipated, antibiotics should generally be withheld until operative cultures are obtained. Infections secondary to human bite injuries are common and are usually caused by a blow of the fist to the mouth. These injuries can produce crippling sequelae, must be managed promptly and aggressively, and often require surgery. Flexor tenosynovitis, often caused by a penetrating injury, may be treated nonoperatively if the patient presents within 24 to 48 hours of onset. Older injuries always require incision and drainage of the flexor tendon sheath. Most authors agree that surgical management of dog bite wounds to the hand is essential. Cat and arthropod bites may also require surgery.

Bites and Stings↗
PubMed1991

Obsessive-compulsive disorder.

Within the past decade the field of psychiatry has rediscovered the neuropsychiatric syndrome of obsessive-compulsive disorder (OCD). Although excellently described over 150 years ago, for many years OCD was thought to be rare, untreatable, and to arise from hidden psychodynamic conflicts. All of these earlier ideas now appear to be wrong. Occurring in approximately 2% of adults, OCD consists of recurrent intrusive thoughts (obsessions) or senseless repetitive actions (compulsions). Although the aetiology of OCD remains unclear, recent neuro-imaging studies implicate the basal ganglia and frontal cortex as crucial structures in the pathogenesis of OCD. Genetic studies demonstrate a clear genetic component to OCD and an interesting link with chronic motor tics and the Gilles de la Tourette Syndrome. Although a true cure for the disorder remains elusive, most OCD symptoms respond well to treatment with 5HT reuptake inhibitors. The phenomenology and aetiology of OCD will be reviewed, with particular emphasis placed on the proper pharmacological treatment of this sometimes crippling disorder.

Clomipramine↗
PubMed1991

Distichiasis-lymphedema syndrome and the Turner phenotype.

Two unrelated females with the syndrome of distichiasis-lymphedema are presented. In both families, the autosomal dominant nature of the syndrome was evident, with multiple affected males and females. In the prepubertal period this disease may be confused with Turner or Noonan syndromes. Genetic counseling is important for this is a very crippling disease and an erroneous diagnosis of future sterility may be given to affected females. Ptosis, pterygium colli, lymphedema, cleft palate and a low posterior hairline can confuse the phenotype. A history of corneal irritation, photophobia and a need to self-pluck eyelashes may be the clue to the diagnosis. Close follow-up for associated complications, counseling and support to these families may be our contributions as clinicians in ameliorating the burden this disease brings.

Abnormalities, Multiple↗
PubMed1991

Sickle cell disease in India.

A screening programme involving 9,822 hospitalised patients revealed the frequency of individuals with S gene to be 11.1 per cent. A population survey of 1,000 randomised subjects from amongst about 70,000 people in one block of the area showed the frequency to be 15.1%. The gene is not confined to tribal peoples, but is prevalent throughout the society, being more frequent in scheduled castes and some caste Hindus. With the available Indian data a sickle cell belt can be mapped out in the country. Analysis of clinical data on the first 700 cases of sickle cell disease seen in the Sickle Cell Research Centre (ICMR) at Burla shows patients of all ages, even beyond 40 years, though many patients tend to die by 20 years of age. Genetically, while most patients are SS and 8.1% are S-beta thalassaemia, cases of SD disease and SE disease were also encountered. A frequency of 0.32% of alpha thalassaemia gene was noted in SS patients against 0.28% in sickle cell trait and 0.12% in AA controls. The disease was found to manifest as early as 3 months or may remain asymptomatic till adult life. Though generally running a milder course, moderate to severe anaemia, vaso-occlusive attacks (86.5-89.36%), splenic sequestration (8.43%-12.76%), crippling avascular bone necrosis (5.7%-35.08%), osteomyelitis (5/700), and epistaxis (28.92%-35.08%) remain a few clinical events deserving competent and urgent medical management.(ABSTRACT TRUNCATED AT 250 WORDS)

Anemia, Sickle Cell↗
PubMed1991

Surgical management of the atrophic edentulous ridge--a prosthetic view.

The vast majority of edentulous patients manage to wear complete dentures with relative ease. There are however a small group of patients described as "Denture Cripples" by Hopkins, Stafford and Gregory (1980), for whom the provision of complete dentures using conventional means has proved impossible. Clinical examination usually reveals marked atrophy of the alveolar ridge, the prominence of sharp bony ridges and an atrophic denture bearing mucosa. The patient complains of loose, painful dentures and an inability to masticate a normal diet. The patients can often be helped by correcting errors on their presenting dentures or by minor surgical procedures such as frenectomy or smoothing sharp bony ridges. Other patients present with such extreme ridge atrophy that major surgery may need to be considered. This paper reviews three types of surgery commonly used to help the prosthetist rehabilitate the patient, namely vestibuloplasties, ridge augmentations and implants.

Alveolar Bone Loss↗
PubMed1991

Radioulnar joint fusion for distal radioulnar joint instability.

Each one of this small group of patients illustrates a rare indication for the radioulnar joint fusion procedure in distal radioulnar joint instability. The case histories tell of a last ditch effort to salvage function in an extremity crippled by painful radioulnar instability after excision of the distal ulna. The fusions healed slowly and two required repeat surgery to achieve union. Today we would routinely add iliac bone graft to the fusion area to hasten healing. Rarely indicated, this is a salvage procedure that is done after failure of other procedures geared to preserve the rotation of the forearm. These patients all had successful salvage of their extremities for activities of daily living, but only one returned to his labor job. All were worker's compensation cases in physical jobs. Two patients had had prior radiocarpal fusions, making them even more restricted in function. This procedure should be kept in mind to be used in the rare cases of painful instability of the distal radioulnar joint when traditional motion-preserving procedures have failed.

Adult↗
PubMed1991

The prevalence of allergic bronchopulmonary aspergillosis in patients with asthma, determined by serologic and radiologic criteria in patients at risk.

Allergic bronchopulmonary aspergillosis, a hitherto uncommon but potentially crippling complication of asthma, occurs at an unknown prevalence in the United States. Using both modern serologic criteria complete with a history of asthma and radiologic findings, we were able to make the diagnosis of allergic bronchopulmonary aspergillosis in 28 of 100 consecutive patients with asthma who had immediate cutaneous reactivity to Aspergillus fumigatus and who were seen in an outpatient setting. Problems associated with use of less comprehensive criteria for this diagnosis are discussed.

Adolescent↗
PubMedDate not supplied

Ankle fusion: techniques and complications.

Ankle fusion is an extremely useful operation. It has the capacity to allow a crippled patient to re-enter the mainstream of life from an otherwise disabling injury or joint disease situation. It requires careful attention to details and the principles of alignment and execution of the procedure in an exacting fashion. Improper position can strain adjacent joints, causing pain and degeneration with the need for additional fusion surgery. Some shortening of approximately 1 to 2 cm usually will result. The surgeon should understand all of the special modifications of the fusion procedure so he can tailor the specific modification for his circumstance. When done properly in the appropriate situation, ankle fusion is an impressive operation for salvage of otherwise hopeless situations.

Ankle Joint↗
PubMed1991

Pulmonary concerns and the exercise prescription.

When writing an exercise prescription, the contributions of the pulmonary system are commonly forgotten. The lung has a tremendous potential to improve its work output, and its contributions are only realized when pulmonary disease or environmental stresses of altitude limit pulmonary performance. At altitudes of 5000 feet above sea level, hypoxia is significant in limiting aerobic capacity, and the exercise prescription should follow relative percentages of VO2max guided by the training heart rate rather than actual work output. Training at altitude will improve performance at altitude, but training at altitude does not always improve sea level performance. Suggestions of using longer recovery intervals, sojourns back and forth from sea level to altitude, and shorter-duration, high-intensity exercise sessions may help improve sea level performance, but more research is needed. The limitations of reactive airway disease and exercise-induced asthma can be minimized with proper attention to training techniques, environmental modifications, and pharmacologic treatment. In the 1984 Olympics, 41 medals were won by athletes with the diagnosis of reactive airway disease. Finally, the crippling limitations of chronic obstructive bronchopulmonary disease can be improved by a proper exercise rehabilitation program that uses an accurate and thorough assessment procedure prior to beginning an exercise program. Also, careful follow-up and continual monitoring of cardiac rhythm, oximetry, and exercise intensity of the pulmonary impaired patient will result in optimal improvement in the patient's sense of well-being, tolerance to dyspnea, and increased ability to do aerobic work, as well as an enhanced quality of life.

Altitude↗
PubMed1991

Fibromyalgia in children; diagnosis and treatment.

Fifteen children (16 years and younger, 10 females, 5 males, mean age 13 years) with juvenile primary fibromyalgia syndrome (JPFS) were seen in a private rheumatology practice over two years. This represented 45 percent of the total number of pediatric rheumatology patients. Symptoms included polymyalgias, polyarthralgias, nonrestorative sleep, difficulty concentrating in school and fatigue. Examination revealed typical tender points, absence of joint swelling, synovitis or nodules and absence of neurological findings. Dolorimetry was abnormal and standard laboratory tests were normal. Most of these patients (67 percent) had seen three or more doctors prior to their rheumatological evaluation and not (60 percent) were told they had juvenile chronic arthritis. Other diagnoses offered were "growing pains" (20 percent), hysteria (7 percent) and psychological problems (7 percent). None of the JPFS patients responded to salicylate or other anti-inflammatory medication. Most (73 percent) responded to cyclobenzaprine, mean dose 12.75 mg. (range 5-25 mg. qhs). JPFS is a very common pediatric rheumatologic problem and is confused with other disorders. Reassurance is very important in the therapy since many parents are fearful that their children may have a potentially crippling disorder. Medication, especially with tricyclics, moderate exercise and proper sleep are also mainstays of therapy.

Adolescent↗
PubMed1991

Amyloidosis and other musculoskeletal complications of long-term regular haemodialysis.

Regular haemodialysis for at least five years is associated with musculoskeletal symptoms. Many of these are caused by a newly recognized disease, haemodialysis amyloidosis. Eighty-three patients who have dialysed for at least 10 years have been reviewed and their symptoms and treatment documented. As yet no cure for this crippling complication is available.

Amyloidosis↗
PubMed1990

[Arthrodesis of the tarsal tibia for the outcomes in fractures of the collum tali. A review of cases and long-term follow-up].

In the wards of the CTO Hospital in Florence, isolated arthrodeses of the tarsal tibia for ankle fractures, or their effects or complications, have been performed on 29 patients in the past 13 years. Of these 29 patients we were able to personally check up on 23, with a follow-up time ranging from one to thirteen years. The patients we followed-up on had been operated on using the Scaglietti technique or its variations in 15 cases, the Charnley technique in 7 cases, and the fixation according to Ilizarov in one case. We examined the pre-operatory clinical-radiographic conditions and the surgical techniques utilized with all of their advantages, disadvantages, limits, and pre and post-operatory complications. In the follow-up studies, for instance, in addition to the subjectivity of the patient we clinically evaluated the commemorative signs and post-ambulatory adaptation phenomena as a function of the residual degree of equinism and, radiologically, the condition of the arthrodesis and the articulation proximal to the tarsal tibia. Tibio-tarsal arthrodesis, notwithstanding the inconveniences common to all types of arthrodesis, has in essence retained its validity regarding the seriously crippling effects of ankle fractures.

Adult↗
PubMed1990

[80th anniversary of the German Society of Rehabilitation].

Given the profound structural changes of the first industrial revolution, physically disabled people, just like blind, deaf or epileptic children, had come to be confronted with disastrous living conditions in the large cities. Based on a sense of joint responsibility, the German Society for Cripple Care (today: German Society for Rehabilitation of the Disabled) was founded already in 1909, which, in the 80 years of its existence, has both considerably influenced pertinent legislation and herself been influenced in terms of constitution, membership and issues dealt with by the broadening of the rehabilitation philosophy. The call for clinic, school and vocational training under one roof had been the beginning of the rehabilitation team. The subjects dealt with at the Society's conferences over the last two decades have included numerous topics that in the meantime have attained socio-political relevancy, a fact that underlines the pacesetting role of non-profit, voluntary organizations in our social welfare state, but in the international network as well.

Persons with Disabilities↗
PubMedDate not supplied

[Surgical treatment of tuberculosis and its modifications--collapse therapy and resection treatment and their present-day sequelae].

Surgical treatment of tuberculosis is now largely a thing of the past. After it had been realized that a tuberculous lung process can be cured by shrinkage, i.e. by reducing the volume of both the lung and the thorax, attempts were made to actively promote such shrinkage processes by means of suitable measures. The so-called collapse therapy was initiated by the Italian physician Forlanini in 1888. By pumping air into the free cavity of the pleura the diseased lung as brought into a state of dosed collapse so that infiltrative and cavernous processes could heal with scar formation. However, application of a pneumothorax was prevented by pleural processes that occurred frequently during the course of a disease, especially also as sequels to pleuritis. The operative alternative was an attempt to achieve lung collapse by surgery. Thus the idea was born to enable lung collapse by mobilising the external thoracic wall, i. e. by means of rib resection: this principle was known as thoracoplasty. A little later, attempts were made to circumvent such a crippling intervention by surgically detaching the lung "on target" over the diseased area and by filling the cavity created in this manner, with air to produce a so-called "extrapleural pneumothorax". Lung surgery advanced rapidly after intubation anaesthesia developed since 1945. It was now possible to remove isolated diseased parts of the lung, so that the collapse therapy receded more and more to the background. Side by side with this development of new surgical procedures drug treatment of tuberculosis made rapid progress.(ABSTRACT TRUNCATED AT 250 WORDS)

Antitubercular Agents↗
PubMed1990

[Prevalence of depression syndrome and its relationship with socioeconomic factors in a population of Valencia City, Carabobo state, Venezuela].

During the months of April and May of 1985, 3218 individuals were studied, in the city of Valencia, Carabobo State, Venezuela, there were chosen at random out of the population whose ages ranged between 15 years and over. A two parts questionnaire was made consisting on the Self-rating Depression Scale by Zung, and the study of socioeconomic factors of the individuals. Frank depression was found in 36.8% of individuals and 55% tendency towards depression, with a mean depression index of 0.48 and a standard deviation of 0.12. The groups that showed the largest prevalence of frank depression were: females 40.4%, ages ranging between 65 years and over 46.2%, widowhood 70.7%, illiterates 65.8%, crippled 50%, and those with low grade of satisfaction with their actual occupation 55.2%. These data suggest the high frequency of Depressive Syndrome in the studied population, and also the strong relationship existing between this syndrome and socioeconomic factors implicated.

Adolescent↗
PubMed1990

[Current aspects of drug therapy of juvenile chronic arthritis].

From the sight of avoiding crippling and dying owing to juvenile chronic arthritis the importance of pharmacologic therapy is discussed. New opinions on the application of medicines already used are elaborated, new medicaments (piroxicam, sulfasalazin) are represented.

Adolescent↗