37 research outputs found

    A migraine variant with abdominal colic and Alice in wonderland syndrome: a case report and review

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    <p>Abstract</p> <p>Background</p> <p>Abdominal migraine is a commonly described migraine variant in children and young adults, but associations with Alice in Wonderland syndrome and lilliputian hallucinations are exceptional.</p> <p>Case presentation</p> <p>A 20 years-old male experienced frequent and prolonged attacks of abdominal colic associated with autonomic manifestations started at the age of ten. At the age of 17, he additionally described prolonged attacks (≥ 7 days) of distortions of shape, size or position of objects or subjects. He said "Quite suddenly, objects appear small and distant (teliopsia) or large and close (peliopsia). I feel as I am getting shorter and smaller "shrinking" and also the size of persons are not longer than my index finger (a lilliputian proportion). Sometimes I see the blind in the window or the television getting up and down, or my leg or arm is swinging. I may hear the voices of people quite loud and close or faint and far. Occasionally, I experience attacks of migrainous headache associated with eye redness, flashes of lights and a feeling of giddiness. I am always conscious to the intangible changes in myself and my environment". There is a strong family history of common migraine. Clinical examination, brain-MRI and EEG were normal. Transcranial magnetic stimulation and evoked potentials revealed enhanced cortical excitability in multiple brain regions. Treatment with valproate resulted in marked improvement of all clinical and neurophysiological abnormalities.</p> <p>Conclusions</p> <p>The association between the two migraine variants (abdominal migraine and Alice in Wonderland Syndrome) might have clinical, pathophysiological and management implications. I think this is the first description in the literature.</p

    Methods of measuring rheological properties of interfacial layers (Experimental methods of 2D rheology)

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    Public Health Rep

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    translocation

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    Terminal 14q deletion with unbalanced t(Y;14)(q12;q32) translocation

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    polymorphic markers

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    Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder characterized by multiple neurofibromas, cafe-au-lait spots, and Lisch nodules of iris. The NF1 gene is located on chromosome 17q11.2 and encodes an 11-13 kb mRNA containing 60 exons. The NF1 gene product neurofibromin is a large protein of 2818 amino acids which acts as a negative regulator in the ras signal transduction pathway. The disease has a high mutation rate and a wide range of expression. Because of the size and complexity of the gene, the variety of mutations and the need to identify the specific mutation in each family, indirect diagnosis using linked markers has an important part in genetic counseling. We analyzed 10 Turkish families with a total of 28 affected individuals and 34 non-affected relatives using polymorphic sequences, four intragenic and five flanking markers. Intragenic microsatellite markers were highly informative for all families. As a result, prenatal and presymptomatic diagnoses for familial cases are being made available

    polymorphic markers

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    Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder characterized by multiple neurofibromas, cafe-au-lait spots, and Lisch nodules of iris. The NF1 gene is located on chromosome 17q11.2 and encodes an 11-13 kb mRNA containing 60 exons. The NF1 gene product neurofibromin is a large protein of 2818 amino acids which acts as a negative regulator in the ras signal transduction pathway. The disease has a high mutation rate and a wide range of expression. Because of the size and complexity of the gene, the variety of mutations and the need to identify the specific mutation in each family, indirect diagnosis using linked markers has an important part in genetic counseling. We analyzed 10 Turkish families with a total of 28 affected individuals and 34 non-affected relatives using polymorphic sequences, four intragenic and five flanking markers. Intragenic microsatellite markers were highly informative for all families. As a result, prenatal and presymptomatic diagnoses for familial cases are being made available

    Neonatal goiter caused by expectorant usage

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    A female newborn was admitted with the symptoms of mild respiratory distress, protruding tongue, hypotonicity, cutis marmorata, sclerema, myxedema, abdominal distension, and feeding problems on the first day of life. She had a huge neck mass, a large anterior and posterior fontanel, and hoarse cry. She had no umbilical hernia or jaundice. A history of maternal potassium iodine (expectorant) usage without doctor's advice was obtained; the mother had not attended a clinic throughout the pregnancy. On ultrasonographic examination, the thyroid right lobe was 53x31 mm and the left lobe was 34x31 mm. The results of thyroid hormone tests on the first day were as follows: T-3 20 ng/dl (normal: 32-216 ng/dl), T-4 0.9 mug/dl (11.8-22.6 mug/dl), TSH 120 mIU/l (2.5-13.3 mIU/l). This patient is presented to emphasize the role of hypothyroidism in drug-induced neonatal goiter and to discuss the possibility of a life-threatening effect of congenital goiter, i.e. respiratory tract obstruction

    with Viral Encephalitis

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    Body shipped to Birmingham, AL. Register states the date of death as 9/25/1927.https://stars.library.ucf.edu/cfm-ch-register-vol11/1055/thumbnail.jp
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