São Paulo medical journal = Revista paulista de medicina
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Review Case Reports
Leber's hereditary optic neuropathy--case report and literature review.
Leber's hereditary optic neuropathy is an important cause of progressive painless visual loss among young male patients. ⋯ We describe a 17-year-old male with progressive bilateral visual loss. Two maternal uncles had had similar patterns of visual loss. The patient had a history of smoking and alcohol abuse. Neuro-ophthalmological examination revealed visual acuity of 20/800 in both eyes, with decreased direct and consensual pupillary light reflexes. Fundus examination demonstrated pale optic discs. The visual evoked potential test showed signs of conduction disturbances in both optic nerves and campimetric study showed complete visual loss in all fields of both eyes. A diagnosis of bilateral optic neuropathy with a clinical suspicion of Leber's hereditary optic neuropathy was made. A blood sample was submitted to genetic analysis in relation to the principal mutations of this disorder, and homoplasmic mutation in 11778 was detected, thereby confirming the diagnosis of Leber's hereditary optic neuropathy.
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Comparative Study
Insight into schizophrenia: a comparative study between patients and family members.
Despite the recognition of the role that sociocultural factors play in the process of acquiring insight, recent research on this issue is scarce. ⋯ Different dimensions of insight are not equally influenced by disease and sociocultural factors. The recognition of illness is more strongly influenced by sociocultural factors than the ability to relabel psychotic phenomena as abnormal.
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Case Reports
Acquired hemoglobin H disease in a patient with aplastic anemia evolving into acute myeloid leukemia.
The prognosis of severe aplastic anemia has improved since the introduction of bone marrow transplantation and treatment with antithymocyte globulin. In contrast to the success of these protocols, studies with long term follow-up have shown the occurrence of clonal diseases such as paroxysmal nocturnal hemoglobinuria, myelodysplastic syndrome and acute leukemia in aplastic anemia. ⋯ We report the first case of a Brazilian patient with aplastic anemia who developed myelodysplastic syndrome and acute myeloid leukemia showing acquired hemoglobin H and increased fetal hemoglobin.
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During the first year of life, the growth process is highly vulnerable to several impairing factors that need to be understood. ⋯ Socioeconomic conditions, clinical/obstetric events and newborn diseases during the hospital stay had repercussions on these children's progress during their first year of life. Their growth profile was found to be very far from the reference standard, thus indicating a need for constant, differentiated assessment.
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In São Paulo, pneumonia is the main infectious cause of death among children. Parapneumonic pleural effusion is a possible complication and has to be treated surgically when the patient does not respond to antibiotics. ⋯ The bacteriological profile in our series of complicated pneumonia cases was similar to what has been described for non-complicated pneumonia cases. Future studies will be necessary to determine why these children presented a worse outcome.