Pak J Med Sci
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To report on six independent and isolated cases demonstrating thumb aplasia as an essentially limb-specific phenotype. ⋯ Thumb aplasia markedly impairs the normal function of affected hand. Surgical procedures like pollicisation of the index finger should be employed to improve the quality of life of these subjects. There is so far no specific genetic factor known for isolated thumb aplasia, compromising an accurate genetic counseling. Collection of patients with similar phenotypic presentations could be useful in further molecular genetic investigations.
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A 92-year-old woman visited the hospital with edema of both lower extremities. Computed tomography revealed her inferior vena cava (IVC) was compressed by a massive hepatic cyst. ⋯ IVC thrombosis and PTE disappeared after 6 months of anticoagulation therapy. To the best of our knowledge, this is the first study in the English literature to report IVC thrombosis caused by congenital hepatic cysts that was treated without vascular intervention.
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We aimed to detect whether maternal serum free β-hCG and PAPP-A levels and NT measurements vary between normal pregnancies and those that subsequently develop pre-eclampsia and to evaluate the role of these screening serum analytes in the prediction of pre-eclampsia. ⋯ Measuring PAPP-A in the first trimester may be useful in the prediction of pre-eclampsia.
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The aim of this pilot study was to determine clinical and laboratory factors that predict amputation surgery and to evaluate the predictive value of soluble CD14 (sCD14), interleukin-6 (IL-6), and procalcitonin (PCT) in patients with diabetic foot ulcers (DFUs). ⋯ We have shown for the first time that IL-6 may have predictive value for lower extremity amputation in patients with DFU. Further studies are needed to confirm its predictive value in this patient group.
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The aim of this study was to evaluate neurological and neurophysiological features of leprosy. ⋯ Peripheral nervous system dysfunction is accompanied by autonomic nervous system dysfunction in leprosy patients. Sympathetic involvement may predominate over parasympathetic involvement.