Hyper IgE (Job's) syndrome: a primary immune deficiency with oral manifestations

Autosomal dominant hyper IgE (HIES or Job's) syndrome is a rare primary immune deficiency characterized by eczema, recurrent skin and lung infections, extremely elevated serum IgE, and a variety of connective tissue and skeletal abnormalities. Individuals with HIES share a characteristic facial appearance and many oral manifestations including retained primary dentition, a high arched palate, variations of the oral mucosa and gingiva, and recurrent oral candidiasis. Mutations in STAT3 account for the majority, if not all, of the cases of autosomal dominant HIES, but the pathogenesis of the many varied features remains poorly understood. In this review, we discuss the clinical phenotype of HIES including immunologic and non-immunologic features, the genetics of HIES, and treatment.     

Physician board certification and the care and outcomes of elderly patients with acute myocardial infarction

BACKGROUND: Patients and purchasers prefer board-certified physicians, but whether these physicians provide better quality of care and outcomes for hospitalized patients is unclear. OBJECTIVE: We evaluated whether care by board-certified physicians after acute myocardial infarction (AMI) was associated with higher use of clinical guideline recommended therapies and lower 30-day mortality. SUBJECTS AND METHODS: We examined 101,251 Medicare patients hospitalized for AMI in the United States and compared use of aspirin, beta-blockers, and 30-day mortality according to the attending physicians' board certification in family practice, internal medicine, or cardiology. RESULTS: Board-certified family practitioners had slightly higher use of aspirin (admission: 51.1% vs 46.0%; discharge: 72.2% vs 63.9%) and beta-blockers (admission: 44.1% vs 37.1%; discharge: 46.2% vs 38.7%) than nonboard-certified family practitioners. There was a similar pattern in board-certified Internists for aspirin (admission: 53.7% vs 49.6%; discharge: 78.2% vs 68.8%) and beta-blockers (admission: 48.9% vs 44.1%; discharge: 51.2% vs 47.1). Board-certified cardiologists had higher use of aspirin compared with cardiologists certified in internal medicine only or without any board certification (admission: 61.3% vs 53.1% vs 52.1%; discharge: 82.2% vs 71.8% vs 71.5%) and beta-blockers (admission: 52.9% vs 49.6% vs 41.5%; discharge: 54.7% vs 50.6% vs 42.5%). In multivariate regression analyses, board certification was not associated with differences in 30-day mortality. CONCLUSIONS: Treatment by a board-certified physician was associated with modestly higher quality of care for AMI, but not differences in mortality. Regardless of board certification, all physicians had opportunities to improve quality of care for AMI.     

Anaesthetists' and surgeons' attitudes towards informed consent in the UK: an observational study

Background  

The attitudes of patients' to consent have changed over the years, but there has been little systematic study of the attitudes of anaesthetists and surgeons in this process. We aimed to describe observations made on the attitudes of medical professionals working in the UK to issues surrounding informed consent.     

脑立体定向多靶点毁损治疗精神分裂症1例

1 临床资料患者,女性,35岁,主因"失眠、焦虑8 a余,加重伴思维障碍、行为异常6 a,被害妄想2 mo"入院.病史特点为心理应激后出现神经衰弱症状.发展期渐出现思维逻辑错乱、脱离现实,认为与父母无血缘关系;情感、思维、意志行为与周围环境不协调;生育后有孩子被害妄想.其母患抑郁症.无神经系统查体及CT阳性发现.     

The long-term follow up after trabeculectomy

THE AIM OF THE STUDY: To estimate the efficacy of trabeculectomy for primary open angle glaucoma. MATERIAL AND METHODS: Since 1990 to 2000 we observed 91 eyes of 79 patients (53 women and 26 men) aged 39-86. The results of performed surgery were valued directly after the trabeculectomy and in period of over 8 years. We carried out the examinations of visual acuity, intraocular pressure, visual field, state of optic nerve head, type of bleb following trabeculectomy and the necessity of applying additional topical treatment. The trabeculectomies were performed in a typical way. Some surgeons made a square or triangular superficial scleral flap based at the limbus, measuring from 2.5 x 3.0 to 4 x 4 mm or 3 x 3 mm. The deep block of scleral tissue with trabeculum (from 0.5 x 1.0 to 2.5 x 3.0 mm) was excised, the superficial cauterisation and the peripheral iridectomy were performed in every case. The scleral flap and conjunctiva were sutured with 10/0 Ethilon, 8/0 Vicryl or 6/0 Mersilk. RESULTS: The patients were divided into 3 groups depending on observation period: I--up to 4 years, II--from 5 to 8 years, III--over 8 years. We confirmed the normalisation of IOP in 80%, 73%, 90% and the successful control of visual field (no progress) in 82%, 77%, 70% of adequate groups. In the first and second group 45-50% of patients could resist from topical treatment, but after 8 years as many as 80% required additional pharmacological treatment. CONCLUSION: The trabeculectomy is the effective surgery in most patients with open angle glaucoma. The effectiveness of trabeculectomy can be controlled by the size of extracted deep scleral flap with trabeculum. For the stability of visual field it is necessary to keep the intraocular pressure at 13-18 mm Hg level.     

Norms of the Rorschach Test for Indian Subjects

Background

The clinical utility of the Rorschach test in Indians is hampered by the absence of reliable normative data. Method : The Rorschach by Dlopfer''s method was administrated to 1256 subjects consisting of 300 normal army personnel, 300 normal civilians, 250 schizophrenics, 300 neurotics and 106 patients with organic disorders.

Results

The Rorschach protocols of normal Indian army personnel and normal civilians showed significant differences from one another and also from the western norms. These differences are culturally determined and are not indicative of low intelligence or psychopathology. Patients with schizophrenia, neurosis, head injury and epilepsy show significant differences from the records of normal subjects. The protocols of army schizophrenics show significant deviations from those of normal army personnel and these changes revert to normal with clinical recovery.

Conclusion

The Rorschach test is not a culture fee test as claimed earlier. In view of the differences from Western norms, Rorschach protocols of Indians should be interpreted using the norms for Indians. In the case of army personnel the norms for army personnel should be used. While the use of the Rorschach to study the personality patterns of normal individuals and as an aid to clinical diagnosis was strongly supported, the findings of the study indicate that the test can also be employed to assess therapeutic response of patients with schizophrenia.Key Words: Rorschach test, norms, schizophrenia, neurosis     

Quality of life in patients suffering from choroideremia

PURPOSE: To direct attention on every-day problems in choroideremia, which are not a barrier in patients occupation. MATERIAL AND METHODS: Two cases of patients with choroideremia which was diagnosed when they were 30 and 54 are described. In spite of widespread visual field changes patients with good visual acuity did not have to change their lifestyles or their jobs (miner and mechanic). Visual acuity, visual field, mesoptometry, adaptometry, electroretinography, electrooculography were done. The mother of the younger patient was also examined. Her fundus of the eye showed typical changes for carriers. In the older patient's family among 41 family members 7 men were affected in 3 generations. Follow-up was 6 years. RESULTS: In ERG rod activity was very low or abolished and cone activity was reduced, more in older patient. In the younger patient visual acuity and mesoptometry were normal, rod adaptation was very low. The patient was able to work as a miner due to good mesopic vision. In follow-up no significant progression of the disease was observed. The older patient had previously been treated for retinitis pigmentosa for a few years. Diagnosis of choroideremia was made when visual acuity of the patient declined. It was impossible to perform mesoptometry and adaptometry because of advanced night blindness. In the dark room the patient found it very difficult to move. In follow-up lowering of the visual acuity, progression of visual field as well as electroretinographic changes occurred. CONCLUSIONS: Patients with choroideremia may be professionally engaged despite of every-day problems connected with widespread scotomas in visual field and nyctalopia. They should not become pensioners too early. The disease progression is faster in older than in younger patients.