[Clinical characteristics and prognosis of 28 cases of infant acute lymphoblastic leukemia].

Objective: To analyze the clinical characteristics and prognosis of patients with infant acute lymphoblastic leukemia (IALL). Methods: A retrospective cohort study.Clinical data, treatment and prognosis of 28 cases of IALL who have been treated at Beijing Children's Hospital, Capital Medical University and Baoding Children's Hospital from October 2013 to May 2023 were analyzed retrospectively. Based on the results of fluorescence in situ hybridization (FISH), all patients were divided into KMT2A gene rearrangement (KMT2A-R) positive group and KMT2A-R negative group. The prognosis of two groups were compared. Kaplan-Meier method and Log-Rank test were used to analyze the survival of the patients. Results: Among 28 cases of IALL, there were 10 males and 18 females, with the onset age of 10.9 (9.4,11.8) months. In terms of immune classification, 25 cases were B-ALL (89%), while the remaining 3 cases were T-ALL (11%). Most infant B-ALL showed pro-B lymphocyte phenotype (16/25,64%). A total of 22 cases (79%) obtained chromosome karyotype results, of which 7 were normal karyotypes, no complex karyotypes and 15 were abnormal karyotypes were found. Among abnormal karyotypes, there were 4 cases of t (9; 11), 2 cases of t (4; 11), 2 cases of t (11; 19), 1 case of t (1; 11) and 6 cases of other abnormal karyotypes. A total of 19 cases (68%) were positive for KMT2A-R detected by FISH. The KMT2A fusion gene was detected by real-time PCR in 16 cases (57%). A total of 24 patients completed standardized induction chemotherapy and were able to undergo efficacy evaluation, 23 cases (96%) achieved complete remission through induction chemotherapy, 4 cases (17%) died of relapse. The 5-year event free survival rate (EFS) was (46±13)%, and the 5-year overall survival rate (OS) was (73±10)%.The survival time was 31.3 (3.3, 62.5) months. There was no significant statistical difference in 5-year EFS ((46±14)% vs. (61±18)%) and 5-year OS ((64±13)% vs. (86±13)%) between the KMT2A-R positive group (15 cases) and the KMT2A-R negative group (9 cases) (χ2=1.88, 1.47, P=0.170, 0.224). Conclusions: Most IALL patients were accompanied by KMT2A-R. They had poor tolerance to traditional chemotherapy, the relapse rate during treatment was high and the prognosis was poor.

[The screening of potential biological markers of seizure onset zone in focal cortical dysplasia based on bioinformatics analysis].

Three patients diagnosed with focal cortical dysplasia (FCD) in the First Hospital of Peking University from September to November 2020 were recruited in the study. Based on stereotactic electroencephalogram (SEEG) or electrocorticogram (ECoG) analysis to localize the seizure onset zone (SOZ), RNA sequencing (RNA-seq) analysis was performed for the SOZ and para-SOZ tissue obtained from surgery. The differentially expressed genes between SOZ and para-SOZ samples were analyzed by performing Go (Gene ontology) analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis."Extracellular matrix"was significantly enriched, which included collagen synthesis genes (e.g., COL1A1)."Ether lipid metabolism"was enriched in the KEGG pathway enrichment analysis. These differences could be the potential biological markers for SOZ localization.

[Comparison of pulse pressure variation, stroke volume variation, and plethysmographic variability index in pediatric patients undergoing craniotomy].

OBJECTIVE: To compare well-known preload dynamic parameters intraoperatively including stroke volume variation (SVV), pulse pressure variation (PPV), and plethysmographic variability index (PVI) in children who underwent craniotomy for epileptogenic lesion excision. METHODS: A total of 30 children aged 0 to 14 years undergoing craniotomy for intracranial epileptogenic lesion excision were enrolled. During surgery, we measured PPV, SVV (measured by the Flotrac/Vigileo device), and PVI (measured by the Masimo Radical-7 monitor) simultaneously and continuously. Preload dynamic parameter measurements were collected at predefined steps: after induction of anesthesia, during opening the skull, intraoperative electroencephalogram monitoring, excision of epileptogenic lesion, skull closure, at the end of the operation. After exclusion of outliers, agreement among SVV, PPV, and PVI was assessed using repeated measures of Bland-Altman approach. The 4-quadrant and polar plot techniques were used to assess the trending ability among the changes in the three parameters. RESULTS: The mean SVV, PPV, and PVI were 8%±2%, 10%±3%, and 15%±7%, respectively during surgery. We analyzed a total of 834 paired measurements (3 to 8 data sets for each phase per patient). Repeated measures Bland-Altman analysis identified a bias of -2.3 and 95% confidence intervals between -1.9 and -2.7 (95% limits of agreement between -6.0 and 1.5) between PPV and SVV, showing significant correlation at all periods. The bias between PPV and PVI was -5.0 with 95% limits of agreement between -20.5 and 10.5, and that between SVV and PVI was -7.5 with 95% limits of agreement between -22.7 and 7.8, both not showing significant correlation. Reflected by 4-quadrant plots, the con-cordance rates showing the trending ability between the changes in PPV and SVV, PPV and PVI, SVV and PVI were 88.6%, 50.4%, and 50.1%, respectively. The concordance rate between PPV and SVV was higher (92.7%) in children aged less than 3 years compared with those aged 3 and more than 3 years. The mean angular bias, radial limits of agreement, and angular concordance rate in the polar analysis were not clinically acceptable in the changes between arterial pressure waveform-based parameters and volume-based PVI (PPV vs. PVI: angular mean bias 8.4°, angular concordance rate 29.9%; SVV vs. PVI: angular mean bias 2.4°, angular concordance rate 29.1%). There was a high concordance between the two arterial pressure waveform-based parameters reflected by the polar plot (angular mean bias -0.22°, angular concordance rate 86.6%). CONCLUSION: PPV can be viewed as a surrogate for SVV, especially in children aged less than 3 years. The agreement between arterial pressure waveform-based preload parameters (PPV and SVV) and PVI is poor and these two should not be considered interchangeable. Attempt to combine PVI and PPV for improving the anesthesiologist's ability to monitor cardiac preload in major pediatric surgery is warranted.

[Genotype and phenotype of children with DEPDC5 gene variants related epilepsy].

Objective: To summarize the clinical characteristics and the features of electroencephalograph (EEG) of children with DEPDC5 gene variants related epilepsy. Methods: The clinical data, gene variation, EEG and head magnetic resonance image (MRI) of 20 epileptic children with DEPDC5 gene variants admitted to Department of Pediatrics, Peking University First Hospital from May 2017 to November 2020 were retrospectively analyzed. Results: Twenty patients with heterozygous DEPDC5 gene variants were enrolled, 8 of 20 patients were nonsense variants, 6 were missense variants, 3 were frame-shift variants, 2 were splicing variants, and 1 was large fragment deletion. Sixteen cases had hereditary variation and 4 had de novo variation. Fifteen of variations were novel. Nine were male, while 11 were female. Their latest follow-up age ranged from 10 months to 13 years and one month.The epilepsy onset age ranged from 3 hours to 11 years and 3 months, the median age was 10.5 months. Twelve (60%) patients had developmental delay. Nineteen patients had focal seizures, 7 had epileptic spasms, 1 had multiple seizure types including tonic, atypical absence, dystonic and myoclonic seizures. Epileptic form discharges were observed in 18 patients during the interictal phase, and 11 were focal discharges, 7 were multifocal discharges. Ten (50%) patients had abnormal brain MRI, including focal cortical dysplasia in 5 patients, undefined malformation of cortical development in 4 patients, hemimegalencephaly in 1 patient. Four patients were diagnosed as West syndrome and one patient was diagnosed as Lennox-Gastaut syndrome. Fourteen (70%) patients were diagnosed as drug-resistant epilepsy. Four patients became seizure-free by treatment with anti-epileptic drugs. Three children were treated with surgery, and 2 of them became seizure-free, 1 had more than 75% reduction in seizures. Conclusions: DEPDC5 gene variant epilepsy is inherited with incomplete penetrance and focal seizure is the major seizure type. However, epileptic spasms, generalized seizures can also be observed. Half of the patients brain malformations. Most of the patients are drug-resistant epilepsy. Patients with clear epileptogenic zones can be treated with surgery. Treatment-resistant patients are more likely to be complicated with developmental delay.

[Research on knowledge status and relevant factors of breastfeeding among medical staff in China based on network platform].

From August 1(st) to 7(th), 2017, the breastfeeding knowledge of medical staff were collected from 52 medical health institutions in 29 provinces through a network system. A total of 35 243 questionnaires were included in the study to analyze the current status of breastfeeding knowledge and related factors. The qualified rate of breastfeeding knowledge questionnaires for medical staff in this study was 75.3% (26 546/35 243). Compared with those in the eastern region and those who were mothers, the qualified rate of breastfeeding knowledge of medical staff in the central region or the western region and medical staff who were fathers or expectant parents was lower, with OR (95%CI) values about 0.71 (0.67-0.75), 0.66 (0.61-0.72), 0.63 (0.55-0.72) and 0.87 (0.80-0.95), respectively. Compared with those attaining high school education or below and those with children aged<1 month, the qualified rate of breastfeeding knowledge was higher in medical staff with bachelor's degree, graduate degree or above, and with children aged 1-5, 6-23 and ≥24 months, with OR (95%CI) values about 1.92 (1.80-2.05), 2.16 (1.94-2.42), 2.28 (1.93-2.70), 2.41 (2.06-2.83) and 1.99 (1.72-2.32), respectively.

[Application of laparoscopic transection of median hepatic fissure in difficult laparoscopic liver resections].

Objective: The aim was to explore the strategy and clinical value of laparoscopic transection of median hepatic fissure (MHF) in difficult laparoscopic liver resections. Methods: First the MHF was located and marked, then the transection plane of the MHF was set. Next, the laparoscopic Multifuctional Operative Dissector (LPMOD) and the technique of curettage and aspiration were utilized to transect the liver beginning from the middle portion of the gallbladder fossa, in a caudal-to-cranial and anterior-to-posterior direction, until the clear exposure of the anterior surface of the intrahepatic inferior vena cava. Transection of the MHF was accurately achieved. Finally, dissection of the second and third porta hepatis were carefully performed and mobilization of the transected liver was achieved. This technique of laparoscopic transection of MHF was successfully performed in 13 patients in difficult laparoscopic liver resections. Results: Between April 2014 and August 2015, 13 patients received the technique of laparoscopic transection of MHF in difficult laparoscopic liver resections, including 10 cases of laparoscopic right hepatectomy, two cases of laparoscopic left hepatectomy and one case of associating liver partition and portal vein ligation for staged hepatectomy (ALPPS). The maximum size of the transected tumor was 15 centimeter. Duration of surgery was 240-430 min[Mean, 324.4±50.0]; the time for transection of the MHF was 40-118 min[mean, 66.4±22.7]. Blood loss was 200-2 000 ml[583.3±452.9]. The length of postoperative hospital stay was 6-25 days[mean, 13.2±5.2]. Seven patients received intraoperative transfusions. No postoperative intraabdominal bleeding, liver failure or other severe postoperative complications occurred. No perioperative death occurred. Conclusions: Application of laparoscopic transection of the MHF in difficult laparoscopic liver resections can help to clearly expose the second and third porta hepatis, especially in patients who have huge tumors and poor exposure for hepatic dissection. Moreover, precise location and transection of the MHF remains very important strategies of applying this technique.

Relationship between vitamin D receptor (VDR) polymorphisms and the efficacy of recombinant human growth hormone (rhGH) treatment in children with idiopathic short stature.

Polymorphisms in the vitamin D receptor (VDR) gene are associated with idiopathic short stature (ISS) in several countries. This study aimed to identify a possible correlation between polymorphisms in the VDR promoter in Chinese children with ISS and the efficacy of the recombinant human growth hormone (rhGH) treatment. Pre-pubertal children with ISS and healthy age- and gender-matched children (N = 95 each) were enrolled in this study. Two single nucleotide polymorphisms (SNPs) in the VDR promoter (rs11568820 at the Cdx-2-binding site upstream of exon 1e and rs4516035 at -1012 upstream of exon 1a) were typed. The growth velocity, standard deviation score (SDS) of height for chronological age, height SDS for bone age, predicted adult height, and serum insulin-like growth factor 1 (IGF-1) and IGF-binding protein 3 (IGFBP-3) levels of the ISS patients were determined before and 6 months after rhGH treatment. No significant differences were observed in the genotype frequencies between the ISS cases and controls. After rhGH treatment, the growth velocity of the A/G genotype at the Cdx-2-binding site SNP locus was significantly higher than that of the G/G genotype; the IGF-1 and IGFBP-3 levels were also higher in the treated group than the untreated group. However, these changes were independent of the VDR-promoter genotype. Polymorphisms in the VDR promoter may not result in the pathogenesis of ISS in Chinese children. The A/G genotype showed a significantly higher growth velocity than the G/G genotype, and may represent a short-term marker of growth potential.

Usefulness of C-arm angiographic computed tomography for detecting iodized oil retention during transcatheter arterial chemoembolization of hepatocellular carcinoma.

Transcatheter arterial chemoembolization (TACE) with iodized oil and anticancer agents is widely used for hepatocellular carcinoma (HCC) treatment. To assess C-arm angiographic computed tomography (CCT) for detecting iodized oil retention during TACE, CCT images were obtained of 40 tumours (24 HCC patients). The primary CCT images showed complete iodized oil retention patterns (type I) in 29/40 (73%) tumours, at which point embolization was terminated; incomplete iodized oil retention requiring further iodized oil embolization occurred in 11/40 (28%) tumours and, of these, complete iodized oil retention patterns were achieved in eight tumours. Conventional CT scanning employed 1 week later showed the same iodized oil retention patterns as demonstrated in the latest CCT images (37/40 [93%] tumours). In 24 additional HCC patients who underwent TACE but not CCT (control group), conventional CT scans obtained 1 week after TACE showed complete iodized oil retention in 32/42 (76%) tumours. The rate of complete iodized oil retention pattern was significantly higher in patients undergoing CCT. It is concluded that the distribution of iodized oil within HCC lesions can be demonstrated on CCT images during TACE, helping to achieve complete iodized oil filling of tumours and, thereby, improving therapeutic effects.

[Diagnosis and treatment of one hundred and eighty-nine patients with chronic pancreatitis].

OBJECTIVE: To summarize the experience of the diagnosis and therapy of chronic pancreatitis (CP). METHODS: 189 patients with chronic pancreatitis confirmed surgically from 1983 to Aug 1999 admitted in our hospital were retrospectively studied. RESULTS: Of all 189 patients, the average age was forty-eight years old. The ratio of male to female is 2.1:1. The proportion of confirmed diagnosis to CP is 51.3% within one year and 80.4% within the first five years. The positive rate for diagnosis was 71.9% by CT and 76.9% by ERCP respectively. The positive rate of PABA was 69.7%. While 136(72%) patients received operations, the rate of complication was low. One patient died of infection after pancreatic fistula at the seventh day after surgery, and 97.8% of patients suffered less pain. CONCLUSIONS: The early diagnosis of CP is difficult. As a delicate operation program set at appropriate time is of vital importance for modifying the course of the disease and improving patients' life quality.

Nonfunctioning pancreatic endocrine tumors. An immunohistochemical and electron microscopic analysis of 26 cases.

Twenty-six patients with non-functioning pancreatic endocrine tumor (NFPET) were operated on during a 22-year period (1968-1990) at PUMC Hospital, Beijing. Of these, 19 were female and 7 were male with a mean age of 33 years. All these tumors, including 12 malignant and 14 benign, were solitary, and most of them were well-encapsulated. Immunohistochemical staining showed 23 (88.5%) containing 1-4 kinds of peptide hormone and 18 (69.2%) being multihormonal. In 7 of the 9 tumors subjected to electron microscopic study, various amounts of neurosecretory granules were found. Tumors of this series were clinically silent, but they contained some immunoreactive peptides, although the amount of the peptides varied from tumor to tumor.

Insulinoma: 31 years of tumor localization and excision.

This report is based on 31 years of experience with 116 cases of hyperinsulinism. Six cases had hypertrophy of the islets of Langerhans, 3 had widespead metastasis from malignant insulinomas, and 107 were benign adenoma cases. An immunoreactive insulin to glucose ratio of 0.3 of the peripheral venous blood before operation is of great value in diagnosing hyperinsulinism. Intraoperatively, immunoreactive insulin assay of the portal blood (IRI) is very valuable in determining if an insulinoma remains. The dividing line is 100 microU.ml-1. In localizing the tumor, "differential" PTPC is important before operation. During the operation, fine needle aspiration cytology may assist in ascertaining if the palpable tumor is an insulinoma. Multiple fine needle aspiration cytology examinations can sometimes reveal an insulinoma in an indurated pancreas. Portal vein blood IRI and blood sugar assays may serve to confirm if removal of the insulinoma is complete. Removal of the insulinoma controls hypoglycemia satisfactorily, but the brain damage incurred by prolonged hypoglycemia cannot be significantly altered. Removal of the tumor should be by enucleation, and the raw surface of the pancreas should be drained not sutured.

Watery diarrhea syndrome caused by multihormonal malignant pancreatic islet cell tumor secreting somatostatin, vasoactive intestinal peptide, serotonin, and prostaglandin E--a clinicopathological, biochemical, immunohistochemical, and ultrastructural study.

The pathophysiological, biochemical, histological, ultrastructural, and immunohistochemical characters of a case of malignant pancreatic islet cell tumor with watery diarrhea syndrome were carefully investigated. Four hormones or mediators--somatostatin (SST), vasoactive intestinal peptide (VIP), serotonin, and prostaglandin E--were markedly elevated in the circulation. The diagnosis was further confirmed by exploratory laparotomy and autopsy. The contents of SST and VIP in tumor tissues were very high. Gel chromatography of tumor extract revealed single peaks for both SST and VIP. Immunohistochemical studies of tumor tissues showed numerous immunoreactive cells to anti-SST, moderate amount of VIP-positive cells, and a few hCG-, insulin-, and glucagon-positive cells. In conclusion, this is an unusual case of Verner-Morrison syndrome in which three kinds of bioactive hormones or mediators were simultaneously secreted; peptides, amine, and prostaglandin.