INTRODUCTION Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome, also called Barakat syndrome, is an autosomal dominant genetic disease caused by haploinsufficiency of the GATA-binding pr...INTRODUCTION Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome, also called Barakat syndrome, is an autosomal dominant genetic disease caused by haploinsufficiency of the GATA-binding protein 3 (GATA3) gene located on the 10pl 5 chromosome.展开更多
To the Editor: In 2016, a 35-year-old Chinese man was admitted to our hospital who had experienced multiple thromboses for 9 years, severe fatigue, and oliguria for a total of 3 weeks. The patient had been diagnosed ...To the Editor: In 2016, a 35-year-old Chinese man was admitted to our hospital who had experienced multiple thromboses for 9 years, severe fatigue, and oliguria for a total of 3 weeks. The patient had been diagnosed with pulmonary embolism and multiple deep vein thromboses at a local hospital 9 years ago. The patient was prescribed warfarin, and the international normalized ratio (INR) was maintained between 2.42 and 3.18. While laboratory findings revealed a prolonged case (77.8 s) of activated partial thromboplastin time (APTT) at that time, no further investigations were carried out and anticoagulation therapy for the patient was terminated alter 3 months.展开更多
文摘INTRODUCTION Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome, also called Barakat syndrome, is an autosomal dominant genetic disease caused by haploinsufficiency of the GATA-binding protein 3 (GATA3) gene located on the 10pl 5 chromosome.
文摘To the Editor: In 2016, a 35-year-old Chinese man was admitted to our hospital who had experienced multiple thromboses for 9 years, severe fatigue, and oliguria for a total of 3 weeks. The patient had been diagnosed with pulmonary embolism and multiple deep vein thromboses at a local hospital 9 years ago. The patient was prescribed warfarin, and the international normalized ratio (INR) was maintained between 2.42 and 3.18. While laboratory findings revealed a prolonged case (77.8 s) of activated partial thromboplastin time (APTT) at that time, no further investigations were carried out and anticoagulation therapy for the patient was terminated alter 3 months.