18p- syndrome from chromosomal deletion of the short arm of chromosome 18 shows a wide range of clinical manifestations. Mental retardation is the most frequent neurological complication; other neurological deficits are more rarely reported. Only one 18p- patient with focal dystonia at the lower limbs has been reported, while there have been no reported cases of generalized dystonia. We report a 27-year-old male with 18p- de novo complete deletion (karyotype 46,XY,18p-) who was affected by severe generalized dystonia, hypokinesia, mental retardation and dysmorphic features. The 18p- syndrome should be added to the list of genetic causes of secondary dystonia. A karyotype analysis should be considered in secondary dystonias, particularly when there are associated dysmorphic features and mental retardation.
The effects of long-term antiepileptic combined therapy with phenobarbitone (PB) and carbamazepine (CBZ) on the major endocrine functions were evaluated in a selected group of 15 young males with partial epilepsy. The plasma basal levels of triiodothyronine (T3), thyroxine (T4), free thyroxine (FT4), thyrotropin (TSH), cortisol (CO), dehydroepiandrosterone-sulfate (DHEA-S), adrenocorticotropin (ACTH), growth hormone (GH), prolactin (PRL) and testosterone (T) were determined. TSH and PRL were also assessed in response to i.v. injection of thyrotropin releasing hormone (TRH). The results were compared with those found in 37 age-matched male volunteers. The most remarkable changes affected pituitary-thyroid axis and pituitary-adrenal axis, while the hypothalamic-pituitary response was normal. No correlation between hormonal changes and duration of epilepsy and therapy or ADs plasma levels was found. There seems to be considerable individual variability of response to antiepileptic therapy, probably depending on peripheral changes in the hormonal metabolism.
The Foix-Chavany syndrome is a neurological entity characterized by linguo-bucco-facial apraxia almost always caused by disturbed cerebral circulation. Three typical cases of this syndrome are described and the role of the CT scan to obtain a definite diagnosis is emphasized.
The incidence rate of primary intracranial tumors in the Province of Trento from 1977 to 1981 was 7.4 per 100,000 inhabitants per year. The age curve is as reported by other authors, with two peaks, one early and the other, much higher, at 50-59 years. This curve reflects that of malignant tumors in males. The age-adjusted crude rate in males proved to be 7.4 (4.9 for malignant and 2.5 for benign tumors). The corresponding value in females was 7.4 (3.5 and 4.0). The most frequent tumors in males were astrocytomas, grades III and IV (M/F ratio = 1.6), and in females meningiomas (M/F ratio = 0.6). Hypophyseal adenomas, which accounted for 15.4% of all tumors, had an M/F ratio of 0.4. The factors likely to be responsible for the differences in incidence rates reported in the various surveys are discussed.
Background: Stroke is the second leading cause of death in the world and in Brazil. During the Corona Virus pandemic, patients may have been neglecting stroke symptoms, inducing a drop in the search for medical assistance. Objectives: Analyze the prevalence of hospitalizations and deaths due to stroke in Brazil during the COVID-19 pandemic compared to the previous year. Design and setting: Transversal, descriptive Epidemiologic study between the years of 2019 and 2020 in Brazil. Methods: Study realized using data from the Department of Information of the Brazilian Health System (DATASUS). Results: There were 163.120 hospitalizations for stroke in the year of 2019, and in the year of 2020 this number had a decrease of approximately 6%. In 2019, Household deaths due to unspecified Cardiovascular Diseases had 85 records. In 2020, there was an increase of 7% in home deaths due to unspecified Cardiovascular Diseases. Conclusion: There is a decrease in notifications of hospitalizations and deaths in Brazil due to unspecified stroke during the year of the pandemic. It is also noticed, during this period, an increase in home deaths due to unspecified Cardiovascular Diseases, of which stroke is a prominent cause. This fact suggests interference of the pandemic in the search for medical care.
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