Hereditary tyrosinemia-chronic type in a 38 year old female.
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Abstract:
遺伝性高チロジン血症・慢性型の38才女性の1症例を報告する.いとこ婚両親の第2子で, 2才頃くる病で発症し全身性色素沈着を伴い,思春期に急性間歇性ポルフィリン症様発作を経て骨痛を主訴とした.著明な骨軟化症,多発性尿細管障害(de-Toni-Debre-Fanconi症候群),肝硬変,高チロジン血症,尿中δ-アミノレヴリン酸高値を呈した.尿有機酸分析ではρ-hydroxyphenyllactic acid, p-hydroxyphenylacetic acid, p-hydroxyphenylpyruvic acid, N-acetyltyrosineが異常高値を示し, succinylacetone, succinylacetoacetic acidが検出されfumarylacetoacetase deficiencyが示唆された.ほぼ無治療のまま38才に至る異例な長期経過を辿った.Keywords:
Tyrosinemia
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Seperti pada dewasa, teknik regional anestesi pada pediatrik kini makin popular digunakan oleh ahli anestesikarena keuntungannya. Namun demikian selalu ada risiko dan kemungkinan timbulnya komplikasi dari setiap tindakan yang dilakukan, termasuk tindakan anestesi regional pada pediatrik. Insidensi komplikasi anestesi regional pada pediatrik tidak banyak, dan kalaupun terjadi komplikasi adalah minor. Komplikasi bisa diakibatkan dari identifikasi ruang saraf, alat, obat, teknis tindakan anestesi regionalnya dan komplikasi lainnya.Walaupun tidak banyak kejadian komplikasi regional anestesi yang dilaporkan pada pediatrik, dan bukanlah komplikasi yang fatal, teknik regional anestesi pada pediatrik harus dilakukan dengan lebih hatihati, pertimbangan risiko dan keuntungannya untuk menghindari terjadinya komplikasi, terlebih karena kebanyakan komplikasi dapat dihindari dengan mempelajari teknik yang benar, menggunakan peralatan yang sesuai, dan sangat menerapkan prinsip keamanan pada pasien dengan baik.
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Genentech is partnering with the German cancer company Affimed to develop immunotherapies for multiple kinds of solid and blood cancers. Affimed is developing therapies that engage natural killer cells of the innate immune system to help direct them to attack cancer cells. Genentech will pay Affimed $96 million up front and up to $5 billion more in potential payments.
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The nationally-recognized Susquehanna
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singing that will take you to new
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Spinal Surgery
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In September 1978 phenylketonuria (PKU) screening in the state of Georgia was expanded to include testing for five additional metabolic disorders. Our goal was to begin therapy within the first three weeks of an infant's life. During the first 22 months, 167,458 specimens were received; 151,250 from infants less than or equal to 1 week of age. During this period 157,893 live births were reported. More than 90% of 2,299 infants with abnormal screening results were retested. The number of cases and incidence of each disease detected were hyperphenylalaninemia, five (1/31,579); maple syrup urine disease, 0 (0/151,250); homocystinuria, one (1/151,250); galactosemia, two (1/63,352); transient tyrosinemia (greater than or equal to 12 mg/dl), 50 (1/3,158); primary congenital hypothyroidism, 17 (1/7,453); and thyroid binding globulin deficiency, ten (1/12,670). For eight children with either hyperphenylalaninemia, homocystinuria, or galactosemia, the average time for retrieval between the initial abnormal screening result ad the first follow-up test was 6.2 days (range three to ten days). Therapy was started by 9.9 days of age (range seven to 17). For the 17 children with congenital hypothyroidism, the retrieval time was 11.6 days (range three to 27) and treatment began by 21.3 days of age (range ten to 69 days).
Tyrosinemia
Hyperphenylalaninemia
Homocystinuria
Galactosemia
Congenital hypothyroidism
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