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9 resultaten
Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis.
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We report on 3 consecutive sib fetuses, presenting at 13, 12, and 13 weeks of gestation, respectively, with fetal hydrops, limb contractures, and akinesia. Autopsy of the first fetus showed subcutaneous fluid collections and severe degeneration of skeletal muscle. Histologic studies demonstrated
Meningeal alveolar soft part sarcoma confirmed by characteristic ASPCR1-TFE3 fusion.
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Sarcoma metastatic to the brain is uncommon and rarely occurs as the initial manifestation of tumor. Alveolar soft part sarcoma (ASPS) is a rare but well-studied subtype of sarcoma. A 39-year-old man presented with seizures due to a left temporal meningeal-enhancing lesion with striking brain edema
Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings.
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Glycogenosis type IV is an autosomal recessive disease, exceptionally diagnosed at birth: only very few reports of the fatal perinatal neuromuscular form have been described. We report on two sibling male newborns who died at 10 and 4 weeks of age with clinical signs of a systemic storage disease.
Histopathological, Ultrastructural and Apoptotic Changes in Diabetic Rat Placenta.
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BACKGROUND
The exchange of substances between mother and fetus via the placenta plays a vital role during development. A number of developmental disorders in the fetus and placenta are observed during diabetic pregnancies. Diabetes, together with placental apoptosis, can lead to developmental and
Secretory meningioma: a diagnostic pitfall.
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BACKGROUND
Secretory meningioma is a rare subtype of meningiomas, displaying epithelial and secretory differentiation of meningothelial cells. It has unique radiological, morphological, and immunohistochemical features, but runs a benign course. Radiological picture because of the variable degrees
Morphological, histochemical, and immunocytochemical study of CO2 and Er:YAG laser effect on oral soft tissues.
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OBJECTIVE
The purpose of this study was to investigate the morphological, histochemical, and immunocytochemical changes of the oral mucosa after CO(2) or Er:YAG laser irradiation.
BACKGROUND
There have been no comparative reports on CO(2) and Er:YAG laser effects on human oral soft
Alpha1-antitrypsin deficiency and toxic shock: a Japanese autopsy case.
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A 74-year-old Japanese female presented with the sudden appearance of hemorrhagic purpuric ecchymoses on her lower extremities and with fever and chills, and died on the fifth day of hospitalization. A diagnosis of alpha1-antitrypsin (AT) deficiency was made postmortem. The liver weighed 1260 g.
A case of achondrogenesis type IA with an occipital encephalocele.
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We report on a case of achondrogenesis type IA (Houston-Harris) with an occipital encephalocele. Prenatal sonograms revealed polyhydramnios, subgaleal edema, microcephaly, a narrow thorax, pericardial effusion, and a severe short-limbed dwarfism with unossified tubular bones and vertebral bodies.
Polyglucosan Bodies in Placental Extravillious Trophoblast for the Diagnosis of Fatal Perinatal Neuromuscular Type Glycogen Storage Disease Type IV.
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The fatal infantile neuromuscular type is the most severe form of glycogen storage disease type IV (GSD IV). We report a case of a 22-day-old female neonate born at 34 weeks gestation with polyhyramnios, fetal hydrops, and severe hypotonia. Placental examination revealed numerous periodic acid
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