Introduction: Gallstone disease, also known as gallbladder stones or GBS, is almost always asymptomatic but can result in a number of problems, including ascending cholangitis and obstructive jaundice. The frequency o...Introduction: Gallstone disease, also known as gallbladder stones or GBS, is almost always asymptomatic but can result in a number of problems, including ascending cholangitis and obstructive jaundice. The frequency of gallbladder stones among patients who were sent for abdominal ultrasound at Mogadishu Somali Turkey Training and Research Hospital, Mogadishu, Somalia, during the period between January 2018 and June 2022 was assessed in this study. Methods: This is a record-based study that was carried out at the radiology department of Mogadishu Somali Turkey Training and Research Hospital on patients who were chosen for abdominal ultrasounds during the months of January 2018 and January 2022. The study focused on cases that occurred within those periods. Reports of abdominal ultrasounds served as the source of the collected data. Results: Records from 2352 patients are included in this study. They were divided into 451 (19.1%) males and 1901 (80.8%) females. Patients with GBS were present in 76.4 percent of cases. 73.2 percent of patients had big stones larger than 5 mm, while 53.4 percent of patients had several stones. GBS 1474 (77.5%) was substantially more common in females than in males (71.6%: 323/451) (P 0.008). The presence of small stones (less than 5 mm) was also shown to be significantly different between males and females (P = 0.015). Furthermore, compared with men, females had a considerably higher frequency of big GBS (5 mm) (P 0.015). Conclusion: In this study, it was discovered that females were significantly more likely than males to have GBS. Small stones were found much more frequently in the males. When compared to men, females had a considerably higher frequency of large GBS.展开更多
BACKGROUND The aim of the present study was to enhance understanding of the diagnosis and treatment of atypical hereditary spherocytosis(HS),and to broaden the diagnostic thoughts of physicians for patients with jaund...BACKGROUND The aim of the present study was to enhance understanding of the diagnosis and treatment of atypical hereditary spherocytosis(HS),and to broaden the diagnostic thoughts of physicians for patients with jaundice.CASE SUMMARY A 28-year-old male presented with jaundice,bile duct stone,and splenomegaly,but without anemia.Other causes of jaundice were excluded,and gene se-quencing revealed a novel heterozygous variant of c.1801C>T(p.Q601X)in exon 14 of the SPTB(NM_01355436)gene on chromosome 14(chr14:65260580)in the patient’s blood;the biological parents and child of the patient did not have similar variants.A splenectomy was performed on the patient and his bilirubin levels returned to normal after surgery.Thus,a novel gene variant causing HS was identified.This variant may result in the truncation ofβ-hemoglobin in the erythrocyte membrane,leading to loss of normal function,jaundice,and hemolytic anemia.The clinical manifestations of the patient were hyperjaundice and an absence of typical hemolysis during the course of the disease,which caused challenges for diagnosis by the clinicians.CONCLUSION Following a definitive diagnosis,genetic testing and response to treatment identified a gene variant site for a novel hemolytic anemia.展开更多
文摘Introduction: Gallstone disease, also known as gallbladder stones or GBS, is almost always asymptomatic but can result in a number of problems, including ascending cholangitis and obstructive jaundice. The frequency of gallbladder stones among patients who were sent for abdominal ultrasound at Mogadishu Somali Turkey Training and Research Hospital, Mogadishu, Somalia, during the period between January 2018 and June 2022 was assessed in this study. Methods: This is a record-based study that was carried out at the radiology department of Mogadishu Somali Turkey Training and Research Hospital on patients who were chosen for abdominal ultrasounds during the months of January 2018 and January 2022. The study focused on cases that occurred within those periods. Reports of abdominal ultrasounds served as the source of the collected data. Results: Records from 2352 patients are included in this study. They were divided into 451 (19.1%) males and 1901 (80.8%) females. Patients with GBS were present in 76.4 percent of cases. 73.2 percent of patients had big stones larger than 5 mm, while 53.4 percent of patients had several stones. GBS 1474 (77.5%) was substantially more common in females than in males (71.6%: 323/451) (P 0.008). The presence of small stones (less than 5 mm) was also shown to be significantly different between males and females (P = 0.015). Furthermore, compared with men, females had a considerably higher frequency of big GBS (5 mm) (P 0.015). Conclusion: In this study, it was discovered that females were significantly more likely than males to have GBS. Small stones were found much more frequently in the males. When compared to men, females had a considerably higher frequency of large GBS.
基金Supported by Natural Science Foundation of Gansu Province,No. 21JR1RA070Construction of Clinical Medical Research Center,No. 21JR7RA392
文摘BACKGROUND The aim of the present study was to enhance understanding of the diagnosis and treatment of atypical hereditary spherocytosis(HS),and to broaden the diagnostic thoughts of physicians for patients with jaundice.CASE SUMMARY A 28-year-old male presented with jaundice,bile duct stone,and splenomegaly,but without anemia.Other causes of jaundice were excluded,and gene se-quencing revealed a novel heterozygous variant of c.1801C>T(p.Q601X)in exon 14 of the SPTB(NM_01355436)gene on chromosome 14(chr14:65260580)in the patient’s blood;the biological parents and child of the patient did not have similar variants.A splenectomy was performed on the patient and his bilirubin levels returned to normal after surgery.Thus,a novel gene variant causing HS was identified.This variant may result in the truncation ofβ-hemoglobin in the erythrocyte membrane,leading to loss of normal function,jaundice,and hemolytic anemia.The clinical manifestations of the patient were hyperjaundice and an absence of typical hemolysis during the course of the disease,which caused challenges for diagnosis by the clinicians.CONCLUSION Following a definitive diagnosis,genetic testing and response to treatment identified a gene variant site for a novel hemolytic anemia.
