[Clinical and gene mutation features of cystic fibrosis: an analysis of 8 cases]. / 8ä¾‹å›Šæ€§çº¤ç»´åŒ–æ‚£å„¿ä¸´åºŠåŠåŸºå› çªå˜åˆ†æž.

OBJECTIVES: To study the clinical features and gene mutation sites of children with cystic fibrosis (CF), in order to improve the understanding of CF to reduce misdiagnosis and missed diagnosis. METHODS: A retrospective analysis was performed on the medical records of 8 children with CF who were diagnosed in Hebei Children's Hospital from 2018 to 2021. RESULTS: Among the 8 children with CF, there were 5 boys and 3 girls, with an age of 3-48 months (median 8 months) at diagnosis, and the age of onset ranged from 0 to 24 months (median 2.5 months). Clinical manifestations included recurrent respiratory infection in 7 children, sinusitis in 3 children, bronchiectasis in 4 children, diarrhea in 8 children, fatty diarrhea in 3 children, suspected pancreatic insufficiency in 6 children, pancreatic cystic fibrosis in 1 child, malnutrition in 5 children, and pseudo-Bartter syndrome in 4 children. The most common respiratory pathogens were Pseudomonas aeruginosa (4 children). A total of 16 mutation sites were identified by high-throughput sequencing, multiplex ligation-dependent probe amplification, and Sanger sequencing, including 5 frameshift mutations, 4 nonsense mutations, 4 missense mutations, 2 exon deletions, and 1 splice mutation. CFTR mutations were found in all 8 children. p.G970D was the most common mutation (3 children), and F508del mutation was observed in one child. Four novel mutations were noted: deletion exon15, c.3796_3797dupGA(p.I1267Kfs*12), c.2328dupA(p.V777Sfs*2), and c.2950G>A(p.D984N). CONCLUSIONS: p.G970D is the most common mutation type in children with CF. CF should be considered for children who have recurrent respiratory infection or test positive for Pseudomonas aeruginosa, with or without digestive manifestations or pseudo-Bartter syndrome.

Analysis of Risk Factors of Bronchiolitis Obliterans in Children with Mycoplasma pneumoniae Bronchiolitis.

OBJECTIVE: To investigate the related risk factors for bronchiolitis obliterans (BO) in children with mycoplasma pneumonia (MP) bronchiolitis. METHOD: The clinical data of 227 children with MP bronchiolitis who were admitted to the II Department of Respiratory of Children's Hospital of Hebei Province from January 2018 to June 2020 were retrospectively analyzed. According to the sequelae of BO, they were divided into 32 cases in the BO group and 195 cases in the non-BO group. The univariate analysis was performed on the clinical and laboratory parameters of the two groups, and the multifactor logistic regression was performed further to determine the independent risk factors for the occurrence of BO in MP bronchiolitis, and then, the cut-off value with the maximum diagnostic value of indicators was found through the ROC curve analysis. RESULTS: The results of univariate and multivariate logistic regression analysis showed that the independent risk factors for the occurrence of BO in MP bronchioles were longer duration of moist rales (OR = 1.203, P = 0.003), higher levels of serum lactate dehydrogenase (LDH) (OR = 1.005, P = 0.036), hypoxemia (OR = 7.442, P = 0.035), and pleural effusion (OR = 4.437, P = 0.004). The area under the ROC curve was 78.2%, 72.0%, 68.2%, and 71.0%, respectively (P < 0.001). The cut-off value of duration of moist rales and levels of serum LDH are 7.5 d and 330 U/L, respectively. CONCLUSION: Children with MP bronchiolitis with high serum LDH level (≥330 U/L), combined with hypoxemia, pleural effusion, and lung wet rale duration (≥7.5 d), may be more prone to BO, in which lung wet rale duration prediction value is the largest. Among them, duration of pulmonary moist rales has the highest predictive value.

Analysis of Clinical Manifestations, Imaging Features, and Gene Mutation Characteristics of 6 Children with Cystic Fibrosis in China.

OBJECTIVE: To explore the clinical manifestations, imaging features, and gene mutation characteristics of 6 children with cystic fibrosis (CF) so as to improve the understanding and diagnosis awareness of CF in children and reduce the missed diagnosis and misdiagnosis. METHODS: The clinical manifestations, imaging, and gene mutation data of six children with CF were collected and retrospectively analyzed. RESULTS: Among the 6 cases of CF, there were 4 males and 2 females. Among the 6 children with CF, 5 cases presented with recurrent respiratory tract infection. Etiology suggested 3 cases of Pseudomonas aeruginosa and 2 cases of Staphylococcus aureus. 3 cases had pancreatic exocrine dysfunction, manifested as diarrhea and aliphatic diarrhea, of which 1 case had high lipase in blood examination, and pancreatic ultrasound showed rough and enhanced pancreatic echo, considering pancreatic cystic fibrosis. 2 cases of CF combined with pseudo-Bartter syndrome (PBS); 1 case involved only the biliary tract and started with cholestasis without other systemic involvement. In 2 cases of sweat test, sweat chloride ions were all >60 mmol/L. 3 cases underwent fiberoptic bronchoscopy, and a large number of sticky secretions were visible under the bronchoscopy. CT of the chest revealed thickening of the bronchial wall (3 cases), bronchiectasis (1 case), atelectasis (1 case), and thin bronchial lumen (2 cases). 1 patient was found to have small airway lesions and mosaic perfusion during follow-up. All 6 children with CF underwent genetic testing. A total of 12 CF transmembrane conductance regulator (CFTR) gene mutations were found, of which 4 mutations were not reported in the literature. CONCLUSION: CF is a disease caused by CFTR mutation. The incidence of this disease in China is low, and the clinical manifestations have great differences. The main symptoms are respiratory symptoms. Some children have gastrointestinal symptoms and/or PBS, and some children only show a single systemic lesion.

Concomitant Laparoscopic Perisplenic Artery Ligation Facilitates Surgery for Hepatobiliary Disease Coexisting with Portal Hypertension.

BACKGROUND: Although liver cirrhosis with portal hypertension (PH) contributes significantly to morbidity and mortality in abdominal surgery, many authors still consider this disease as an indication for surgery. In many reports, however, numerous treatment modalities focus on hypersplenism secondary to PH, irrespective of splenomegaly and PH. The proven benefits of laparoscopy seem especially applicable to patients with this complex disease. This study evaluates the safety and efficacy of laparoscopic perisplenic artery ligation (SAL) in patients with hepatobiliary disease and PH. METHODS: From July 2004 to May 2012, the medical records of all patients with hepatobiliary disease in the context of PH at the authors' institutes, including patient demography, operative outcomes, and change of liver function, were retrospectively reviewed. RESULTS: A total of 101 patients were included in the series: 85 patients with cirrhotic Child A, B class, who underwent no intervention (Control group n = 22), splenectomy (SP group n = 29), laparoscopic SAL (SAL-1 group, n = 34) for splenomegaly, and 16 patients with cirrhotic Child C class, who only underwent laparoscopic SAL (SAL-2 group, n = 16). Among these patients, both laparoscopic SAL and open SP for splenomegaly were available to decrease morbidity rate, loss of bleeding, and improve liver function, whereas laparoscopic SAL had a lower rate of surgical-related complications. CONCLUSIONS: Although technically challenging in patients with hepatobiliary disease coexisting with PH, the present series demonstrated the safety and feasibility of laparoscopic SAL, even facilitating simultaneous surgery for hepatobiliary diseases, with a clear advantage over SP and no intervention.

Modified hepatic vascular occlusion facilitates hepatectomy for malignant hepatic tumor in laparoscopy.

PURPOSE: The parenchymal transection and bleeding are important problems in laparoscopic hepatectomy (LH). The study aimed to evaluate the feasibility and safety of LH for a malignant hepatic tumor (MHT) with hepatic vascular occlusion (HVO) only using a monopolar electrocautery. METHODS: A total of 31 patients' profiles, operative data, clinical outcomes, pathologic findings, and follow-up information were collected who underwent LH with HVO. RESULTS: The median operative time was 176 minutes and the median postoperative hospital stay was 9 days. The median estimated blood loss was 310 mL. The median tumor size was 4.6 cm and the median surgical margin was 12 mm.The ischemia injury to the liver in patients subjected to selective HVO was less than that in patients subjected to the Pringle maneuver. CONCLUSIONS: HVO facilitates LH in transecting liver parenchyma and reduces bleeding, making LH safe and feasible only using monopolar electrocautery in selected patients with malignancies. Moreover, the selective HVO have more advantages over the Pringle maneuver in decreasing ischemic injury.

Stapleless laparoscopic splenectomy with individual vessel dissection in patients with splenomegaly.

BACKGROUND: Mechanical stapling devices have been established as a mainstay in laparoscopic splenectomy (LS), but limited data are available regarding stapleless LS for splenomegaly with individual vessel dissection (IVD). This study aimed to investigate the feasibility of stapleless LS for splenomegaly and its potential advantage over staple-based LS. METHODS: A total of 51 patients with splenomegaly underwent stapleless LS and were subsequently reviewed. The data collected include the patients' demographics, operative outcomes, and the rates of conversion to open surgery, complications, and mortality. Multiple linear and logistic regression analyses were used to assess the impact of the primary diagnosis, body mass index (BMI), and massive splenomegaly on the perioperative conversion rate. RESULTS: There were no deaths. The mean for various parameters are as follows: spleen length 21.6 cm; spleen weight 1,184 g, operating time 148 min, hospital stay 5.2 days, estimated blood loss 245 ml. The total conversion rate was 9.8 % (including one reoperation for bleeding). The presence of a BMI >30 % and hematologic malignancy-cofactors of portal hypertension (PH)-and a spleen weight >1,000 g were independent predictors of conversion to open surgery. CONCLUSIONS: Stapleless LS for splenomegaly is feasible and safe in selected patients. It has advantages over traditional procedures using staples, at least in patients with benign splenomegaly. Patients with hematologic malignancy, BMI >30 %, coexistence of PH, and spleen weight >1,000 g are susceptible to bleeding during dissection of the splenic hilum, with use of IVD being relatively limited.

Laparoscopic approach for simultaneous treatment of rectal cancer and synchronous liver metastases:indications and initial experience.

BACKGROUND/AIMS: Lapraoscopic era provided a new alternative for rectal cancer and synchronous liver metastases (RCLM). However, there is no established consensus for laparoscopy "first" for patients with RCLM, whose metastasis is confined to the liver. This study aimed to evaluate its indications for one-stage surgery in laparoscopy. METHODOLOGY: Sixteen patients with RCLM, who had undergone laparoscopic colorectal resection and simultaneous treatment for liver metastasis, were retrospectively reviewed. RESULTS: With concomitant laparoscopic colorectal resection, 6 patients received liver resection simultaneously; 10 patients underwent all sorts of down-staging managing including local ablation, right hepatic portal vein ligation and chemotherapy pumps implanted into hepatic artery for liver metastases. The colo-anal/rectal anastomoses were performed with a stapler or "pull-through" mode through the anus. Three patients underwent two-stage liver resection following tumor down-staging. Median survival time was 22.3 months. CONCLUSIONS: Laparoscopy approach first for rectal cancer and synchronous liver metastasis is feasible in selected patients, and can provide curative resection or benefit "down-staging" treatment. Colon "pull-through" anastomosis is a potential method to avoid abdominal incision and decrease the risk of anastomotic leakage. It is worth investigating its advantages over traditional approaches with a prospective randomized controlled study.