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Drug‐induced reactions are complications associated with high mortality and significant morbidity. Stevens–Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN) are examples of these conditions, which are characterized by skin and mucous lesions. Here, we report a case of a 9‐year‐old girl who presented with blisters associated with an extensive vesicular rash and multiple ulcerations on the lips and oral cavity. A drug‐induced hypersensitivity reaction to antibiotics was suspected, and a diagnosis of TEN was made. The patient was managed with withdrawal of the suspected causative agent, and the oral lesions were treated with low‐level laser therapy (LLLT) and oral hygiene. This case highlights that TEN requires interdisciplinary intervention with dental assistance and follow‐up to improve symptoms, nutrition, systemic condition, and quality of life.  相似文献   
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L1 disease is the most common genetic cause of congenital hydrocephalus. Mutations in the L1CAM gene are associated with an overlapping clinical spectrum of four X-linked neurological conditions, characterized by hydrocephalus, mental retardation, lower limb spasticity and adducted thumbs. Brain anomalies are frequently present in L1 disease. We describe these anomalies by reporting a case of a male newborn presenting with congenital hydrocephalus along with corpus callosum agenesis and enlargement of the massa intermedia. These findings, in association with the presence of clasped thumbs, raised the suspicion of L1 disease, which was confirmed by the detection of a mutation in the L1CAM gene. In cases of congenital hydrocephalus, recognition of the brain anomalies associated with L1 disease may contribute to pursuing the genetic analysis needed for the diagnosis and genetic counseling.  相似文献   
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OBJECTIVE: The authors tested the effect of blood sampling (skin versus venous puncture) on some biochemical and hematological blood parameters in athletes to answer whether skin puncture could be used as a substitute for venous puncture. DESIGN: Comparative study of 2 methods of blood samples collection. SETTING: The blood was collected in the same athletes at 3 different moments of the preparatory training phase. PARTICIPANTS: Fourteen male indoor soccer players (22 +/- 1 years old) and 7 female handball players (18 +/- 1 years old) participated. MAIN OUTCOME MEASUREMENT: Blood was collected in heparin and K3EDTA by Vacutainer BD or Microvette Sarstedt system for biochemical and hematological analyses, respectively. RESULTS: There were no significant statistical differences between the 2 methods for the values of creatine kinase, urea, creatinine, lymphocytes, and platelets. The other hematological analyzes and uric acid exhibited significant higher values in skin blood, although they were all within the normal expected range. A high degree of correlation was observed between the 2 techniques for all parameters. CONCLUSIONS: Skin puncture is a reliable, easy, accurate, and less invasive sampling method for assessing hematological and some biochemical parameters in athletes, respecting that blood samples should always be obtained from the same site, especially in follow-up studies.  相似文献   
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Intracellular recordings were obtained from pituicytes in the neural lobe of the isolated rat pituitary. Like other glia, pituicytes lacked action potentials in response to depolarizing current injection, but they tended to have more positive resting membrane potentials and higher input resistances than astrocytes in other preparations. Dye-coupling typical of astrocytes was also demonstrated amongst pituicytes, and their morphologies were similar to those of pituicytes stained for glial fibrillary acidic protein. Action potentials, anode-break spikes or barium spikes were not observed in pituicytes, even under conditions that maximized the elicitation of Ca2+-dependent responses. This suggests that pituicytes either have no or a very low density of Ca2+ channels or Ca2+ currents that are too small to generate action potentials. Dynorphin A (1–13), a kappa-opioid agonist, produced long-lasting increases in pituicyte input resistance with no significant changes in resting membrane potential. Dynorphin's action was concentration-dependent and was blocked by the opioid antagonist naloxone. This is consistent with previous reports demonstrating kappa-opioid receptors on pituicytes in the neurohypophysis. The β-adrenergic agonist isoproterenol (100 μM) reversed the increases in pituicyte input resistance produced by opioid application, with no significant changes in resting membrane potential. The fact that pituicytes responded to neurotransmitters suggests a functional link between pituicytes and neurosecretory nerve fibres.  相似文献   
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The syndrome of Maffucci is characterized by angioma association of the enchondromatose. It is a relatively rare syndrome. The lesions are evolutived. The treatment is surgical. His pronostic is marqued by high percentage of malign degenerescence.  相似文献   
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