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Objective:To summarize the clinical characteristics, diagnosis and treatment of caspase recruitment domain-containing protein 9 (CARD9) gene deficiency associated invasive candidiasis, and report a novel mutation in CARD9 gene.Methods:The clinical characteristics, laboratory tests, treatment and the outcome of follow-up in a boy with invasive candidiasis were described. The boy′s main clinical manifestations were central nervous system infection and retroperitoneal mass. Whole-exome sequencing was performed and Sanger sequencing was verified to identify the CARD9 gene mutations in the patient and his parents. A literature search for “CARD9”and “invasive candidiasis”was conducted in PubMed, Wanfang and CNKI databases from their establishment to May 2020.Results:A 10-year-old boy suffered onset symptom of chronic diarrhea, which lasted for two months. The symptom was followed by progressive neurological symptoms such as headache, vomiting, seizures and disorder of consciousness. His unusual medical history was absent. Candida albicans were cultured several times in cerebrospinal fluid and blood, and yeast-like fungi were found in the stool high power field of vision. Cerebral magnetic resonance imaging indicated obstructive hydrocephalus and abdominal CT scan showed retroperitoneal mass and thickening of the intestinal wall. The whole-exome sequencing analyses of blood samples from the boy and his parents were performed. The results showed that there was a homozygous mutation of c.952-12_956delinsAG in the CARD9 gene, which was an unreported pathogenic mutation. This was confirmed by Sanger sequencing. There was no significant relief from intravenous combined antifungal medications. After lateral ventricular drainage surgery and injection of amphotericin B into the lateral ventricle, improvement of clinical symptoms and cerebral spinal fluid abnormalities was observed after nine weeks, and the retroperitoneal mass shrank. At follow-up after four-month oral combined antifungal medications, the child had no complaint except fatigue. However, cerebral spinal fluid analysis showed increased protein level and decreased glucose. Persistent hydrocephalus and periventricular white matter abnormal signals were revealed on the brain magnetic resonance imaging and the smaller retroperitoneal mass than before on the abdominal CT scan. In addition to this case, totally 21 cases with CARD9 gene deficiency associated invasive candidiasis have been reported worldwide, most of which featured central nervous system infections.Conclusions:CARD9 gene deficiency is an autosomal recessive primary immunodeficiency that confers human susceptibility to fungal disease. The associated invasive candidiasis often affects the central nervous system and makes the patient severely ill. Adequate systemic antifungal therapies should be given, and patients with hydrocephalus need surgical treatment. A novel mutation is reported that expands the variant diversity of CARD9 gene. For patients with unexplained invasive candidiasis, including those without a history of previous recurrent infection, genetic testing is recommended for primary immunodeficiency including CARD9 gene deficiency.
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Objective:To explore the application value of B-mode ultrasound combined with real-time color doppler ultrasound in percutaneous nephrolithotomy and provide guidance for clinical application.Methods:A total of 150 patients underwent percutaneous nephrolithotomy from December 2015 to December 2017 in the People's Hospital of Lishui were selected.According to different ultrasound guidance methods, the patients were divided into two groups.The single group(70 cases) received B-guided puncture.In the combined group(80 cases), B-ultrasound combined with real-time color doppler ultrasound-guided puncture was applied.The incidence of complications and the success rate of lithotomy were compared between the two groups.The changes in renal artery blood flow parameters[end diastolic velocity(EDV), peak systolic velocity(PSV) and resistance index(RI)] before and after surgery in the combined group were observed.Results:The incidence of complications in the combined group was 2.50%(2/80), which was lower than that in the single group[14.29%(10/70)](χ 2=7.046, P<0.05). The success rate of stone extraction in the combined group was 98.75%(79/80), which was higher than that in the single group[85.71%(60/70)](χ 2=9.336, P<0.01). The EDV and PSV of the renal interlobar arteries of the combined group before and after surgery had statistically significant differences ( t=3.794, 5.385, all P<0.05), but the RI had no statistically significant difference ( P>0.05). The EDV and PSV of renal segment arteries in the combined group before and after surgery had statistically significant differences ( t=4.535, 4.884, all P<0.05), while the RI had no statistically significant difference ( P>0.05). The EDV and PSV of renal aorta of the combined group before and after surgery showed no statistically significant differences (all P>0.05), while the RI showed statistically significant difference ( t=4.360, P<0.05). Conclusion:B-mode ultrasound combined with real-time color doppler ultrasound guidance for percutaneous nephrolithotomy can help reduce the incidence of complications and improve the success rate of stone extraction to a certain extent.
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Objective To explore the application value of B -ultrasound examination in gynecological acute abdomen.Methods From October 2015 to October 2017,150 patients with suspected gynecological acute abdomen were selected in the People's Hospital of Lishui.The effect of B-ultrasound examination in diagnosis of gynecological acute abdomen was analyzed.Results The sensitivity,specificity and total accuracy of abdominal ultrasound in the diagnosis of gynecological acute abdomen were 75.00%( 99／132),44.44%(8／18) and 71.33%(107／150), respectively.The sensitivity,specificity and total accuracy of transvaginal ultrasound in the diagnosis of gynecological acute abdomen were 87.12%(115／132),72.22%(13／18) and 85.33%(128／150),respectively.The sensitivity, specificity and total accuracy of abdominal combined with transvaginal ultrasonography in the diagnosis of gynecological acute abdomen were 98.48%(130／132),94.44%(17／18) and 98.00%(147／150),respectively.The sensitivity, specificity and total accuracy of abdominal combined with transvaginal ultrasound in the diagnosis of gynecological acute abdomen were significantly higher than those of abdominal ultrasound and transvaginal ultrasound (χ2 ＝8.658, 10.699,9.075,all P＜0.05).The diagnosis of acute pelvic inflammation ,ectopic pregnancy ,rupture of luteal cyst and torsion of ovarian cyst by abdominal combined with transvaginal ultrasound was better than abdominal ultrasound (χ2 ＝13.748,5.984,13.524,6.874,all P＜0.05).Conclusion Abdominal ultrasound and transvaginal ultrasound can be used to diagnose gynecological acute abdomen.However,abdominal combined with vaginal ultrasound is more effective in the diagnosis of gynecological acute abdomen ,and it can effectively improve the accuracy of diagnosis.
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Objective@#To explore the application value of B-mode ultrasound combined with real-time color doppler ultrasound in percutaneous nephrolithotomy and provide guidance for clinical application.@*Methods@#A total of 150 patients underwent percutaneous nephrolithotomy from December 2015 to December 2017 in the People's Hospital of Lishui were selected.According to different ultrasound guidance methods, the patients were divided into two groups.The single group(70 cases) received B-guided puncture.In the combined group(80 cases), B-ultrasound combined with real-time color doppler ultrasound-guided puncture was applied.The incidence of complications and the success rate of lithotomy were compared between the two groups.The changes in renal artery blood flow parameters[end diastolic velocity(EDV), peak systolic velocity(PSV) and resistance index(RI)] before and after surgery in the combined group were observed.@*Results@#The incidence of complications in the combined group was 2.50%(2/80), which was lower than that in the single group[14.29%(10/70)](χ2=7.046, P<0.05). The success rate of stone extraction in the combined group was 98.75%(79/80), which was higher than that in the single group[85.71%(60/70)](χ2=9.336, P<0.01). The EDV and PSV of the renal interlobar arteries of the combined group before and after surgery had statistically significant differences (t=3.794, 5.385, all P<0.05), but the RI had no statistically significant difference (P>0.05). The EDV and PSV of renal segment arteries in the combined group before and after surgery had statistically significant differences (t=4.535, 4.884, all P<0.05), while the RI had no statistically significant difference (P>0.05). The EDV and PSV of renal aorta of the combined group before and after surgery showed no statistically significant differences (all P>0.05), while the RI showed statistically significant difference (t=4.360, P<0.05).@*Conclusion@#B-mode ultrasound combined with real-time color doppler ultrasound guidance for percutaneous nephrolithotomy can help reduce the incidence of complications and improve the success rate of stone extraction to a certain extent.
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Objective@#To explore the application value of B-ultrasound examination in gynecological acute abdomen.@*Methods@#From October 2015 to October 2017, 150 patients with suspected gynecological acute abdomen were selected in the People's Hospital of Lishui.The effect of B-ultrasound examination in diagnosis of gynecological acute abdomen was analyzed.@*Results@#The sensitivity, specificity and total accuracy of abdominal ultrasound in the diagnosis of gynecological acute abdomen were 75.00%(99/132), 44.44%(8/18) and 71.33%(107/150), respectively.The sensitivity, specificity and total accuracy of transvaginal ultrasound in the diagnosis of gynecological acute abdomen were 87.12%(115/132), 72.22%(13/18) and 85.33%(128/150), respectively.The sensitivity, specificity and total accuracy of abdominal combined with transvaginal ultrasonography in the diagnosis of gynecological acute abdomen were 98.48%(130/132), 94.44%(17/18) and 98.00%(147/150), respectively.The sensitivity, specificity and total accuracy of abdominal combined with transvaginal ultrasound in the diagnosis of gynecological acute abdomen were significantly higher than those of abdominal ultrasound and transvaginal ultrasound(χ2=8.658, 10.699, 9.075, all P<0.05). The diagnosis of acute pelvic inflammation, ectopic pregnancy, rupture of luteal cyst and torsion of ovarian cyst by abdominal combined with transvaginal ultrasound was better than abdominal ultrasound(χ2=13.748, 5.984, 13.524, 6.874, all P<0.05).@*Conclusion@#Abdominal ultrasound and transvaginal ultrasound can be used to diagnose gynecological acute abdomen.However, abdominal combined with vaginal ultrasound is more effective in the diagnosis of gynecological acute abdomen, and it can effectively improve the accuracy of diagnosis.
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Objective To evaluate the effect of transitional care on the quality of life in patients with maintenance hemodialysis (MHD).Methods 101 MHD patients with symptoms of kidney ＜ 80 points were assigned into the interventional group (47 of 51 cases completed the study) and the control group (45 of 50 cases completed the study) by random number table method.The patients in the interventional group received transitional care for 6 months,while control group received routine care.The effects on function index,satisfaction index and clinical index were evaluated at the 3rd month and 6th month after intervention.Results 6 months after intervention,the scores of physical composite,mental composite,burden of kidney disease,symptoms/problems list,effects of kidney disease in the interventional group were 51.78±5.91,55.32±5.36,29.79±17.64,79.39±6.73,68.02±11.38,while the scores of the control group were 38.22±9.46,42.03±8.32,19.58±17.25,69.49±10.10,52.09±16.78,and the difference between the two groups was statistically significant (t=5.308-9.063,Z=-3.07,P ＜ 0.01).The scores of self-management behavior,health locus of control in the interventional group were 71.30-±5.42,25.74±2.42,while the scores of the control group were 65.0±8.74,22.47±3.97 (t=4.132,4.759,P ＜ 0.01).The nursing satisfaction in the interventional group scored 91.06±7.29,which was significantly higher than the control group scored 86.22±10.72 (Z=-2.45,P＜ 0.05).The level of serum phosphorus (PO4),Ca × PO4 products,parathormone (PTH) in the interventional group were (1.76±0.35) mmol/L,(51.02±10.04) mg2/dl2,464.56 ng/L,which were significanlty lower than (2.01±0.54) mmol/L,(57.41±17.38) mg2/dl2,625.78 ng/L in the control group (t=-2.691,-2.167,-2.000 in tum,P ＜ 0.01 or 0.05).Conclusions Transitional care achieves good effectiveness on the quality of life in patients with MHD.