44 THYMIC HUMORAL FACTOR (THF) THERAPY IN A PATIENT WITH DI GEORGE SYNDROME
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چکیده
منابع مشابه
Down Syndrome and Di George Syndrome: a Case Report
We present a case report of a newborn girl that was admitted at the University Childrens Hospital Braşov Romania, for dehydration and cyanosis. She also presented with the characteristic features of Down syndrome associated to symptomes of Di George syndrome. She presented with persistent hypocalcemia, IgA hypogamaglobulinemia and tymus agenesis that was seen on the radiographic image. Down syn...
متن کاملCataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report
BACKGROUND We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD). CASE PRESENTATION A 26-year-old white woman, born at term by natural delivery presented with a post-natal diagnosis of GSD Ia. Genetic testing by array-comparative genomic hybridization (CGH) for DGS was required becaus...
متن کاملDi-George syndrome presenting with hypocalcaemia in adulthood: two case reports and a review.
This report describes two cases of Di-George syndrome presenting with hypoparathyroidism in adulthood. The first patient presented with profound hypocalcaemia that resulted in a generalised seizure. Routine investigations revealed hypoparathyroidism. The clue to her underlying condition was the postnatal death of her young child. This case shows that Di-George syndrome can present in adulthood ...
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Turner syndrome is a sex-chromosome disorder occurring in one out of 2500 female births and characterized by growth retardation, gonadal dysgenesis and cardiovascular anomalies. The 45, XO karyotype is the most frequent type of this disease. Herein, we report on a 6-year-old girl with Turner syndrome and 45, XO karyotype presenting with short stature. She had dextrocardia and hiatal hernia. To ...
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Objective: Gestational diabetes mellitus (GDM), a common medical complication of pregnancy, is defined as “any degree of glucose intolerance with onset or first recognition during pregnancy.Risk factors for GDM: a previous GDM or Pre diabetes , a family history revealing a first degree relative with type 2 diabetes , maternal age (>35yr), ethnic background , being overweight , a previous pregna...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1979
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197908000-00060