Mutational analysis of HOXD13 and HOXA13 genes in the triphalangeal thumb-brachyectrodactyly syndrome.

The triphalangeal thumb-brachyectrodactyly syndrome is a very rare autosomal dominant disorder of unknown etiology characterized by an unusual pattern of limb malformations: triphalangeal thumbs and brachyectrodactyly in the hands, and ectrodactyly in the feet. In a previous report, we described the clinical and radiographical features of three related subjects with the disease and suggest that due to the unusual combination of limb defects and to its phenotypic similarity with the limb malformative pattern induced by disrupting the Hoxd13 gene in mouse, the triphalangeal thumb-brachyectrodactyly syndrome might be caused by mutations in a HOX gene. After sequencing the entire coding region of HOXD13 and the highly conserved homeodomain encoding region of HOXA13, we do not detect any deleterious mutation in any of the patients excluding that alterations at these sequences are responsible for the disease. Mutations in regulatory regions of these genes or in other genes involved in limb development might be responsible for the disease.     

Pr?senile Demenz bei polyzystischer lipomembran?ser Osteodysplasie

Wir berichten über den ersten Fall von polyzystischer lipomembran?ser Osteodysplasie oder “brain, bone and fat disease” in Deutschland. Die nach dem Erstbeschreibern auch als Morbus J?rvi-Hakola-Nasu bezeichnete Erkrankung ist bisher vor allem in Japan und in Finnland beschrieben worden. Einzelne F?lle wurden aus Schweden, Norwegen, Italien, Südafrika, Belgien und den USA berichtet. Im deutschsprachigen Raum ist bisher ein Fall aus ? ver?ffentlicht worden.     

Erythroleukemia with high fetal hemoglobin after therapy for ovarian carcinoma

The authors report the association of erythroleukemia (FAB M6) and fetal hemoglobin (HbF) level of at least 65% after therapy for ovarian carcinoma. The patient's erythrocytes had many signs of reversion to fetal-like erythropoiesis including: elevated HbF with a fetal G gamma/A gamma (gly/ala) of 3/1, low hemoglobin A2 (HbA2), macrocytosis, and increased i antigen. These data and data from other case reports suggest that elevation of HbF to greater than 25% with reversion to fetal-like erythropoiesis is useful in differentiating erythroleukemia from other preleukemic disorders.     

Efficacy of radiology of the esophagus for evaluation of dysphagia

The efficacy of radiology in evaluating dysphagia was studied in 86 patients by comparison to endoscopic findings. In the 66 patients with endoscopic abnormalities radiology was correct in 54, for a sensitivity of 82%. Sensitivity of radiology improved to 95% if mild esophagitis was excluded. In the 20 patients with normal endoscopy, radiology was normal in 18 (90%). Thus radiology proved to be a reliable means of evaluating the esophagus in patients with dysphagia.     

Ranitidine influences the uptake of oral midazolam.

In a randomised crossover study in volunteers plasma midazolam levels were estimated for 24 h following 15 mg by mouth, either preceded by no medication or following 24 h therapy with ranitidine. Administration of the H2-receptor blocker significantly increased bioavailability of the benzodiazepine and resulted in higher plasma levels for the first 6 h after taking midazolam. This was accompanied by a greater soporific effect.     

Developing a model for clinical and basic science teaching skills

This report describes a model for identifying sets of teaching abilities considered to be effective for medical school teaching staff, based on roles teachers assume and functions they are expected to perform as instructors. The specification of these teaching abilities was the first step in the development of a comprehensive course on Medical Instruction at the Basic Institute of Medical and Agricultural Biology of the State University of Sao Paulo, Botucatu, Brazil, where the senior author is employed. The work was based on the assumption that medical school teachers are expected to assume a variety of teaching roles and that identification and specification of the abilities that define their roles can result in more effective and efficient teaching.     

Neurological dysfunction of the bladder in workers exposed to dimethylaminopropionitrile

Neurogenic bladder dysfunction, characterized by hesitancy, need to strain, decreased stream, and increased duration of urination, developed in 104 (63%) of 166 employees working in the manufacture of polyurethane foam. Highest rates of illness (69%) occurred in production workers, and no illness occurred in office or warehouse workers. Onset of the epidemic coincided with introduction of a catalyst, dimethylaminopropionitrile (DMAPN), and monthly case incidence rates increased as DMAPN use increased. Outbreak ceased abruptly when DMAPN use was stopped. Of eight patients who underwent neurourologic testing during recovery, seven lacked either detrusor reflex or normal sensation of bladder filling; seven had a subclinical sensory abnormality; three had prolonged sacral-evoked responses; and two of these three had limb motor neuropathies. Dimethylaminopropionitrile is unique among known neurotoxins in producing urinary symptoms more frequently than limb nerve symptoms.     

Allergy to laboratory animals: a retrospective and a prospective study.

Twenty four volunteers who had been allergic to laboratory animals for some years were examined by means of a questionnaire paying particular attention to symptoms associated with rats and by serological and skin tests with extracts of rat urine (retrospective study). Nasal and eye symptoms were reported by 21 and 16 individuals respectively: 13 had asthma. Positive skin tests and high levels of specific IgE antibody to rat urine extract were found in 17 of the more severely affected individuals and this group included 12 of those with asthma. Latent periods of work with animals before symptoms appeared varied from 0.5 to 12 years. Also 148 individuals were studied during their first year of work with animals (prospective study). Symptoms developing during the year were reported by 15%, asthma by 2%. IgE antibody levels to rat urine were raised in 40% of affected and 6% of the unaffected individuals but there was no significant correlation between symptoms and either antibody levels or positive skin tests. Allergic symptoms developing during the first year of postemployment were, on the whole, much milder than those seen in the retrospective study. A tentative conclusion is that most individuals who become allergic to laboratory animals develop the condition in a mild form during their first year of employment but it appears probable that atopic individuals, although having an equal chance of developing allergy as compared with non-atopic individuals, may eventually progress to a more severe form of the disease.