Medicine
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Multicenter Study
Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome.
The hyperimmunoglobulinemia D and periodic fever syndrome (HIDS), one of the autoinflammatory syndromes, is caused by mutations in the gene coding for mevalonate kinase (MVK). We conducted the current study to assess the genetic, laboratory, and clinical features as well as the complications and course of disease in patients with genetically confirmed HIDS. In addition, we studied the quality of life and course of life in a selection of patients. ⋯ In conclusion, HIDS is an early-onset disease that is accompanied by an array of inflammatory symptoms. Although the frequency of attacks decreases during the patient's life, many patients continue to have frequent attacks. HIDS impairs several aspects of quality of life.
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Little is known about the long-term sequelae of community-acquired pneumonia (CAP). Therefore, we describe the long-term morbidity and mortality of patients after pneumonia requiring hospitalization. We specifically hypothesized that the Pneumonia Severity Index (PSI), designed to predict 30-day pneumonia-related mortality, would also be associated with longer-term all-cause mortality. ⋯ Of 2950 patients who survived the initial CAP hospitalization, 72% were hospitalized again (median, 2 admissions over follow-up) and 16% were re-hospitalized with pneumonia. In conclusion, long-term morbidity and mortality are high following hospitalization for pneumonia and are strongly correlated with initial PSI class. This suggests that patients with pneumonia, especially those with PSI class IV and V at admission, might need better attention paid to preventive strategies and much closer follow-up due to their elevated risk of subsequent adverse events and increased health resource utilization.
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With growing awareness of medical fallibility, researchers need to develop tools to identify and study medical mistakes. We examined the utility of hospital readmissions for this purpose in a prospective case-control study in a large academic medical center in Israel. All patients with nonelective readmissions to 2 departments of medicine within 30 days of discharge were interviewed, and their medical records were carefully examined with emphasis on the index admission. ⋯ In a third of readmitted patients a QOC problem can be identified, and these problems are preventable. Thus, readmission may be used as a screening tool for potential QOC problems in the department of medicine. Routine monitoring of all readmissions may provide a simple cost-effective means of identifying and addressing medical mistakes.
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Since many children with X-linked agammaglobulinemia (XLA) can now be expected to reach adulthood, knowledge of the status of adults with XLA would be of importance to the patients, their families, and the physicians caring for these patients. We performed the current study in adults with XLA to examine the impact of XLA on their daily lives and quality of life, their educational and socioeconomic status, their knowledge of the inheritance of their disorder, and their reproductive attitudes. Physicians who had entered adult patients with XLA in a national registry were asked to pass on a survey instrument to their patients. ⋯ Their knowledge of the inheritance of their disease was excellent. Sixty percent of them would not exercise any reproductive planning options as a result of their disease. The results of the current study suggest that although the disease impacts the daily lives of adults with XLA, they still become productive members of society and excel in many areas.
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Comparative Study
Pulmonary veno-occlusive disease: clinical, functional, radiologic, and hemodynamic characteristics and outcome of 24 cases confirmed by histology.
Pulmonary veno-occlusive disease (PVOD) is defined by specific pathologic changes of the pulmonary veins. A definite diagnosis of PVOD thus requires a lung biopsy or pathologic examination of pulmonary explants or postmortem lung samples. However, lung biopsy is hazardous in patients with severe pulmonary hypertension, and there is a need for noninvasive diagnostic tools in this patient population. ⋯ Among the 16 PVOD patients who received PAH-specific therapy, 7 (43.8%) developed pulmonary edema (mostly with continuous intravenous epoprostenol, but also with oral bosentan and oral calcium channel blockers) at a median of 9 days after treatment initiation. Acute vasodilator testing with nitric oxide and clinical, functional, or hemodynamic characteristics were not predictive of the subsequent occurrence of pulmonary edema on treatment. Clinical outcomes of PVOD patients were worse than those of PAH patients.