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Halaman 1 dari 16 hasil
The genetic risk of acute seizures in African children with falciparum malaria.
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OBJECTIVE
It is unclear why some children with falciparum malaria develop acute seizures and what determines the phenotype of seizures. We sought to determine if polymorphisms of malaria candidate genes are associated with acute seizures.
METHODS
Logistic regression was used to investigate genetic
Close association between pulmonary disease manifestation in Mycoplasma pneumoniae infection and enhanced local production of interleukin-18 in the lung, independent of gamma interferon.
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To investigate pathophysiologies of Mycoplasma pneumoniae infection from an immunological point of view, we measured the levels of interleukin-18 (IL-18) (originally designated gamma interferon [IFN-gamma]-inducing factor) in 19 serum samples from 10 patients with pneumonia without pleural effusion
Amniotic fluid embolism: a cause of sudden maternal death and police inquest.
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Amniotic fluid embolism (AFE) is a rare, unforeseeable, unpreventable, and dreadful complication of pregnancy. Histological diagnosis is still the criterion standard for its detection because of the lack of any reliable clinical laboratory tests. The diagnosis of AFE has a close association with
[Monoclonal immunoglobulin (M-Ig) and skin diseases from the group of mucinoses--scleredema adultorum Buschke and scleromyxedema. Description of four cases and an overview of therapies].
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BACKGROUND
The mucinoses of the type of scleredema and scleromyxedema are diseases marked by excessive production of mucin deposits in the skin and subcutaneous tissue, which causes skin hardening. The skin and subcutaneous deposits hamper the movement of limbs, the thorax as well as mouth. The same
Unusual case of frontal mucocele presenting with forehead ulcer.
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Paranasal mucoceles are benign slow-growing paranasal sinus lesions, which usually develop following the obstruction of the sinus ostiu. They most frequently occur in the frontal sinus. Frontal mucoceles are expansive lesions usually causing visual clinical signs and symptoms such as diminution of
Monoclonal Gammopathy of Undetermined Significance-associated Scleromyxoedema.
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Scleromyxoedema is a rare generalized cutaneous mucinosis, which in absence of thyroid disease, occurs almost invariably in patients with monoclonal gammopathies. A 54-year-old female patient presented with complaint of tightening of skin on the extremities, abdomen, forehead, gradually progressive
Cortical ependymoma with unusual histologic features.
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Cortical ependymomas are rare gliomas with classic ependymal features but are unusual in primarily involving the cerebral cortex. Here, we present a 19-year old woman with new-onset seizures who was found to have a large, cortically based non-enhancing lesion with scalloping of the overlying
Two sporadic cases of adult-onset progressive mucinous histiocytosis.
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Progressive mucinous histiocytosis is a rare, benign, non-Langerhans' cell histiocytosis limited to the skin. Ten cases--all women--in four families and one sporadic case have been described in the literature. The disorder usually begins in childhood and progresses slowly. We report two sporadic
Occipital Intraparenchymal Myxopapillary Ependymoma: Case Report and Literature Review.
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Myxopapillary ependymoma (MPE) is a histological variant of ependymoma found in the conus medullaris or filum terminale region. Intracranial occurrence of the tumor is a rarity. The most characteristic histological feature of myxopapillary tumors is the abundance of intercellular and perivascular
Does dermatoneuro syndrome have a viral aetiology?
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Scleromyxoedema is a rare disease characterized by a generalized papular and sclerodermoid cutaneous eruption. It is associated with fibroblast proliferation and mucin deposition in the dermis. Most patients have a monoclonal gammopathy, defined by the presence of IgG. Treatment of scleromyxoedema
Adult Variant of Self-healing Cutaneous Mucinosis in a Patient with Epilepsy.
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A 52-year-old woman was admitted with a 3 weeks history of periorbital edema and lips swelling. She developed several subcutaneous firm erythematous papules and nodules on the face, scalp and two indurated plaques on the upper back and left forearm. These lesions grew rapidly. The patient had a
Scleromyxedema and the dermato-neuro syndrome: case report and review of the literature.
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Scleromyxedema is a generalized form of lichen myxedematosus which is characterized by a papular and sclerodermoid skin eruption resulting from dermal fibroblast proliferation and mucin deposition. The majority of patients with scleromyxedema have a monoclonal gammopathy, and other systemic
Scleromyxedema: a case report and review of the literature.
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Scleromyxedema (SM) is a sclerotic variant of lichen or papular mucinosis in which lichenoid papules and scleroderma-like features are both present. It is a rare deposition disorder characterized by generalized papular and sclerodermoid eruptions, mucin deposition, increased fibroblast
Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transport.
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OBJECTIVE
To identify the underlying genetic defect in a patient with intellectual disability, seizures, ataxia, macrothrombocytopenia, renal and cardiac involvement, and abnormal protein glycosylation.
METHODS
Genetic studies involved homozygosity mapping by 250K single nucleotide polymorphism
Structural and functional characterization of gastric mucosa and central nervous system in histamine H2 receptor-null mice.
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To examine the physiological role of the histamine H(2) receptor, histamine H(2) receptor-null mice were generated by homologous recombination. Histamine H(2) receptor-null mice, which developed normally and were fertile and healthy into adulthood, exhibited markedly enlarged stomachs and marked
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