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macroglossia/phosphatase

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AL amyloidosis was diagnosed in a 56-year-old woman with spontaneous purpura, macroglossia and hepatomegaly, a serum IgGk monoclonal gammopathy and a 25% plasma cell bone marrow infiltration. She was started on high-dose treatment consisting of four monthly cycles of VID chemotherapy, then underwent

Localized attachment loss in Pendred syndrome: incidental?

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BACKGROUND Pendred syndrome is a rare, inherited, autosomal recessive disorder with an iodine organification defect of thyroxin produced by the thyroid gland. Its clinical features include sensorineural hearing loss, classically congenital and prelingual, and goiter. METHODS This is the first case

Oral manifestations and histochemical studies of the gingiva in Down syndrome.

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Down syndrome is the most frequent of the aneuploids observed in newborn infants whose major manifestations are mental and growth retardation. The purpose of this work was to study the oral manifestations, histological and histochemical changes in gingiva of Egyptian Down syndrome children and to

Spontaneous acromegaly: a retrospective case control study in German shepherd dogs.

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Acromegaly results from the overproduction of growth hormone in adulthood and is characterised by overgrowth of soft tissue and/or bone as well as insulin resistance. There are few data indicating the risk factors associated with this disease in dogs or its clinicopathological features and sequelae.

Infantile-acute acid maltase deficiency (Pompe's disease): studies of muscle cultures.

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Muscle was cultured from a 7-month-old boy affected by generalized weakness, macroglossia, cardiomegaly, hepatomegaly and increasing dyspnea. Muscle biopsy showed a vacuolar myopathy with glycogen accumulation (Pompe's disease). The muscle was cultured to verify whether the abnormality could be
BACKGROUND Chronic hemodialysis patients experience frequent and varied mucocutaneous manifestations in addition to hair and nail disorders. The aim of this study was to evaluate the prevalence of dermatological changes among patients with end-stage renal disease under hemodialysis in a hemodialysis

Gastrointestinal manifestations of amyloidosis.

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Amyloidosis is characterized by extracellular deposition of abnormal protein. There are six types: primary, secondary, hemodialysis-related, hereditary, senile, and localized. Primary (AL) amyloidosis is associated with monoclonal light chains in serum and/or urine with 15% of patients having
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