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Page 1 de 17 résultats
Rubinstein-Taybi syndrome and familial Mediterranean fever in a single patient: two distinct genetic diseases located on chromosome 16p13.3.
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Rubinstein-Taybi syndrome (RTS) is characterized by typical facies, short stature, mental retardation, broad thumbs and broad great toes. The syndrome is at least in part caused by microdeletions at chromosome 16p13.3 or by mutations in the gene for the CREB binding protein (CBP), which is located
Extrapulmonary Pneumocystis carinii infection in an AIDS patient: a case report.
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BACKGROUND
Extrapulmonary Pneumocystis carinii (EPC) infection is an uncommon condition, regardless of HIV status, and can occur as a complication of P carinii pneumonia (PCP). However, PCP is the most common severe opportunistic infection in patients with AIDS. The incidence of EPC is variable, and
CANDLE syndrome: a recently described autoinflammatory syndrome.
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CANDLE syndrome (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) is a recently described autoinflammatory syndrome characterized by early onset, recurrent fever, skin lesions, and multisystemic inflammatory manifestations. Most of the patients have been shown to
[Wegner's granulomatosis of hypolarynx in a patient with laryngemphraxis: case report and review of literature].
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Summary A patient suffered from progressive dyspnea and even laryngeal obstruction visited our department in May, 2017 and received emergency tracheotomy for assistance in breathing. There was no dysphagia, sore throat, fever, cough, hemoptysis and hematuresis. The pathological signs including
Mowat-Wilson syndrome: neurological and molecular study in seven patients.
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OBJECTIVE
To present a seven-cases serie of Mowat-Wilson syndrome (MWS).
METHODS
All patients with positive mutation for the ZEB2 were evaluated by a geneticist and a neurologist, with clinical and laboratorial characterization.
RESULTS
A peculiar facies and mental retardation were present in all
Severe malaria in children: A descriptive report from Kinshasa, the Democratic Republic of Congo.
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The decline of susceptibility of Plasmodium falciparum to chloroquine and sulfadoxine-pyrimethamine resulted in the change of drug policy. This policy has probably changed the facies of the severe form of malaria. A prospective study was conducted in Kinshasa, the Democratic Republic of Congo. Data
Schwartz-Jampel syndrome: a review of the literature and case report.
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Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive skeletal dysplasia associated with myotonia. The manifestations of SJS include short stature, blepharophimosis, and skeletal anomalies. The combination of skeletal and muscular abnormalities may result in oro-dental manifestations such as
GeneReviews®
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CLINICAL CHARACTERISTICS
STAC3 disorder is characterized by congenital myopathy, musculoskeletal involvement of the trunk and extremities, feeding difficulties, and delayed motor milestones. Most affected individuals have weakness with myopathic facies, scoliosis, kyphosis[Bronchospasm during anesthesia in a patient with Pena-Shokeir syndrome].
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A 3-month-old boy with Pena-Shokeir syndrome underwent tracheotomy under general anesthesia. Patients with this syndrome may present anesthetic problems involving difficulties in tracheal intubation, possibilities of malignant hyperthermia, as well as perioperative respiratory complications related
Cross-sectional evaluation of the Bronchitis Severity Score in Egyptian children: A move to reduce antibiotics.
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BACKGROUND
Despite evidence of limited benefit of antibiotics in acute bronchitis, most paediatric patients are prescribed them.
OBJECTIVE
To assess the validity of the Bronchitis Severity Score (BSS) in assessing the clinical response to treatment of acute bronchitis, and determine whether clinical
Necrotizing fasciitis in association with hyperimmunoglobulin E syndrome.
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A case of necrotizing fasciitis in association with hyperimmunoglobulin E (HIE) syndrome is reported. The patient was a 17-year-old Japanese boy with a clinical history of recurrent skin and pulmonary infections and eczematoid dermatitis, markedly elevated serum levels of IgE, and coarse facies. He
Aminoglutethimide in the treatment of metastatic breast cancer.
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Aminoglutethimide in combination with dexamethasone has been used in 44 patients with metastatic breast cancer who had prior response to hormonal manipulation and/or positive estrogen receptors. Objective tumor response (complete response plus partial response) has been achieved in 19 of 44
Concurrent chronic lymphocytic leukemia cutis and acute myelogenous leukemia cutis in a patient with untreated CLL.
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Patients who have chronic lymphocytic leukemia (CLL) are known to have a high frequency of second malignant neoplasms. However, acute myelogenous leukemia (AML) occurring concurrent with or after a diagnosis of CLL is extremely rare. In this article we report a case of AML developing in a
Impact of phenytoin therapy on the skin and skin disease.
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Phenytoin (diphenylhydantoin; Dilantin), ALZA Corp.) is a highly effective and widely prescribed anticonvulsant agent used in the treatment of focal and tonic clonic generalised seizures. The side effects of phenytoin can occassionally engender significant morbidity. Phenytoin can induce generalised
Phenytoin in cutaneous medicine: its uses, mechanisms and side effects.
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Phenytoin (diphenylhydantoin or Dilantin) is a highly effective and widely prescribed anticonvulsant agent used in the treatment of grand mal and psychomotor epilepsy. In dermatology, phenytoin has been used to treat ulcers, epidermolysis bullosa, and inflammatory conditions. Its mechanism appears
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