Journal of internal medicine
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We herein report a case of a 40-year-old Japanese woman (patient IT) with a history of recurrent aggravation of hypertriglyceridaemia, pancreatitis and miscarriages in three previous pregnancies. However, strict dietary intervention was applied during a fourth pregnancy. As a result, acute pancreatitis was avoided, and the patient gave birth to a healthy infant. ⋯ She was homozygous for LPL deficiency due to a nonsense mutation (TGG1401 --> TGA/Trp382 --> Stop) in exon 8 of the LPL gene, which resulted in the absence of LPL activity and immunoreactive LPL mass. Our findings indicate that, in LPL deficiency, pregnancy seriously exacerbates hypertriglyceridaemia and increases the risk of acute pancreatitis, which endangers both the mother and fetus. Early diagnosis of LPL deficiency and appropriate management thereof are essential for normal childbirth.
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Case Reports
Lethal pulmonary hypertension in a young woman caused by unrecognized haemangiosis carcinomatosa.
A 38-year-old female is described, who was admitted with increasing respiratory distress, cough and visible blood stasis in the jugular veins. The most likely diagnosis in this young women taking oral contraceptives was pulmonary embolism, however, a ventilation-perfusion lung scan was normal. ⋯ Post-mortem examination revealed diffuse adenocarcinoma of the stomach (linitis plastica) with metastasis to local lymphnodes, lymphangiosis carcinomatosa of the liver, pancreas and spleen and tumour cell masses within the lumen of small pulmonary arteries leading to variable occlusions of the vessels. Fibrocellular intimal proliferation was found, leading to further obstruction and increased resistance to flow through the pulmonary vascular bed and to subacute cor pulmonale.
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To measure QT interval and QT dispersion, and to evaluate possible relationships between these measurements, heart rate variability parameters, and early myocardial involvement in patients with systemic sclerosis (SSc). ⋯ Patients with SSc have increased QTc interval, QT dispersion, and QTc dispersion. The role of autonomic nervous system and myocardial involvement on ventricular repolarization in patients with SSc needs further investigation.
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We deal with the second reported case of chronic meningococcaemia in which the culture of skin biopsy led to the diagnosis. A 46-year-old man presented a history of recurrent fever and rash. Laboratory studies revealed an inflammatory syndrome. ⋯ The histological examination of skin lesions revealed a perivascular infiltrate in the dermis without any picture of leukocytoclastic vasculitis. A culture of skin specimen tested positive for Neisseria meningitidis (N. meningitidis). After a week of antibiotic treatment, the patient recovered with no recurrence of either fever or rash over a two year period.
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To test the predictive power of comorbidity and of the interaction between age and comorbidity in geriatric patients with acute medical illness. ⋯ Death was independently predicted by clinical diagnosis of malnutrition (odds ratio = 1.87, confidence limits CL = 1.20-2.86), age-comorbidity index > 7 (odds ratio = 1.77, CL = 1.15-2.72), preadmission impairment in activities of daily living (odds ratio = 1.74, CL = 1.13-2.69), lymphocytopenia (odds ratio = 1.74, CL = 1.15-2.61). A weaker predictive model was obtained by substituting the comorbidity index for the index of age-comorbidity. Excluding comorbidity from the logistic regression greatly weakened the predictive model.