Spinocerebellar ataxia types 2 and 3 segregating simultaneously in a single family.

Spinocerebellar ataxia (SCA) types 2 and 3 are autosomal-dominant neurodegenerative disorders caused by mutations in two different genes. We identified mutations for SCA2 and SCA3 segregating simultaneously in a single Brazilian family. The index patient had SCA2, whereas her two second-degree cousins had SCA3. Disease was more rapidly progressive in the SCA2 patient, who presented severe brainstem and pancerebellar atrophy, as opposed to the two SCA3 patients, who had only mild cerebellar vermian atrophy. In such situations, molecular confirmation of all patients may avoid misdiagnosis of SCA subtypes and eventual errors in predictive testing of unaffected family members.     

Predictors of gastric emptying in Parkinson''s disease

Predictors of gastric emptying (GE) in patients with idiopathic Parkinson's disease (PD) of a solid and liquid meal are not well defined. For measurement of GE 80 patients with PD were randomly assigned to receive either a solid meal (250 kcal) containing 13C-octanoate (n = 40) or a liquid meal (315 kcal) with 13C-acetate (n = 40). All patient groups were off medication affecting motility and were matched for age, gender, body mass index, disease duration and severity, using Unified Parkinson's Disease Rating Scale (UPDRS). Gastric emptying was compared with a healthy control group (n = 40). Multiple regression analysis was used to determine predictors of gastric emptying. Exactly 88% and 38% of PD patients had delayed GE of solids and liquids respectively. Solid and liquid emptying was similar in women and men. There were no differences in GE in PD patients < 65 years of age when compared with patients > or = 65 years. Multiple regression analysis showed that motor handicaps such as rigour and action tremor are independent predictors of solid GE (r = 0.68, P < 0.001). The severity of motor impairment, but not any other neurological symptom, as assessed by UPDRS is associated with gastroparesis in PD and solid emptying is more likely to be delayed.     

Iron Fortification of Flours in Venezuela

This paper reviews a conference about the impact of the iron fortification program in Venezuela; it was presented at the Pan American Health Organization regional technical meeting: "Iron Fortification: Where Are We in Terms of Iron Compounds," held in Washington January 10–12, 2001. Some of the data presented were published in the American Journal of Clinical Nutrition , including stimulating results about the impact of fortification of precooked corn and white wheat flours, as well as the prevalence of anemia and iron deficiency in the Venezuelan population. This article reports results from three surveys carried out in 1997, 1998, and 1999 on the same age and socioeconomic group that had been evaluated in 1990, 1992, and 1994. This article also shows the impact of iron fortification programs and the influence of other factors on the prevalence of iron deficiency and anemia during the last 7 years.     

Aluminiumoxidkeramik in der rekonstruktiven Nasenchirurgie. Histologische Untersuchungen am Kaninchen

Summary In cases where a reconstruction of defects in the larynx, oral cavity, the pharynx or in the ear region has been performed using skin flaps, a temporary fistula is formed at the point of entry.This fistula can be closed later after the flap has taken and the flap pedicle dissected.We would like to demonstrate with some examples that with the use of deepithelisation it is possible to achieve a primary wound closure. This way no temporary fistula results and additional surgery is avoided in many cases.Furthermore flap deepithelisation offers a way to bring good vascularised tissue under the skin and cover subcutaneous defects, for example those after radiotherapy.

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Die Veröffentlichung des Manuskripts soll in Laryngol Rhinol Otol (Stuttg) erfolgen     

Specific sensitization to common allergens and pulmonary function in the European Community Respiratory Health Survey

BACKGROUND: The role of atopy in the evolution to chronic obstructive disease remains controversial. AIM: We aimed to assess the association between individual sensitization to common allergens and lung function. METHOD: We analysed data from 12,687 subjects aged 20 to 44 years, from 34 centres in 15 countries participating in the European Community Respiratory Health Survey (ECRHS). Participants performed a blood test, lung function test, methacholine challenge, and answered an administered questionnaire. The relationships between specific IgE, FEV1 and FEV1/FVC ratio were assessed for each study centre stratified by sex, followed by random effects meta-analysis. RESULTS: Asthmatics sensitized to house dust mite had a lower FEV1 (-119 mL in women and -112 mL in men) and FEV1/FVC ratio (-1.95%, and -2.48%) than asthmatics without sensitization. Asthmatics sensitized to cat had a lower FEV1 (statistically significant for women only) and a lower FEV1/FVC ratio. Asthmatic women sensitized to grass had a lower FEV1 and a lower ratio, and those sensitized to Cladosporium had a lower FEV1. A weak association was found with sensitization to cat and to Cladosporium among non-asthmatic women, which disappeared after adjusting for BHR. CONCLUSION: We conclude that atopy was related to a lower lung function, which was only apparent among asthmatics. This relationship was explained by specific sensitization to cat and to house dust mite, the latter being homogeneous across areas.     

Platelet 5-hydroxytryptamine increases with platelet age in dogs.

Thrombocytopenia was induced in mongrel dogs by two mechanisms: immunologically, by intravenous injection of heterologous antiplatelet antibody, and non-immunologically, by circulating the blood through glass beads in anesthetized animals. The platelet content of 5-HT was monitored before and during the recovery of the blood platelet counts. This period is associated with the normalization of the mean platelet survival time and with a progressive increase in the mean age of the circulating platelet population. A continuous increment in platelet 5-HT closely followed the increase in platelet counts in both models of thrombocytopenia, and a strong correlation was found between the platelet age and 5-HT content. These findings support the concept that platelets accumulate 5-HT during their physiological aging process, contradicting the notion that a negative balance in 5-HT content results at the end of their physiological lifespan in circulation. These results are not in conflict with the concept that circulating platelets release and re-uptake 5-HT.     

Benign infantile seizures with mild gastroenteritis: Study of 22 patients

PurposeTo analyze the electroclinical features, aetiology and outcome in patients with normal neurological examination and psychomotor development who presented seizures during a mild gastroenteritis (MG).Patients and methodsEvaluation of the clinical charts of 22 patients who were assessed in the Neurology Department, Hospital Nacional de Pediatría Prof. Dr. JP Garrahan between 1999 and 2007.ResultsTwelve patients were boys and 10 were girls, the age of onset ranged from 5 to 26 months, and the median age was 10 months. Rotavirus antigen test in stool was positive in 9 of 18 studied patients. The seizures were brief, focal with secondary generalization in 15 patients (68.5%), apparently generalized in 5 (22.5%) and focal in two (9%). Seven of the patients (35%) had more than one seizure in 24 h. The interictal EEG was normal in all patients. Neuroradiological studies were performed in 19 patients with a normal result. No patient was put on long-term treatment with antiepileptic drugs. Four patients had subsequent mild gastroenteritis and two of them presented convulsions during the disease. After between 12 and 67 months of follow-up, all patients had normal psychomotor development and neurological examination.ConclusionsIn this study we confirmed the association of benign infantile seizures (BIS) and MG with or without rotavirus. The identification of this entity allows avoiding unnecessary complementary studies and treatment with antiepileptic drugs.