OBJECTIVE: To explore the genetic etiology of four fetuses with Uniparental disomy (UPD), and analyze their causes. METHODS: Four fetuses undergoing prenatal diagnosis at Wenzhou Central Hospital between November 2021 and July 2024 were selected as the study subjects. Genetic testing and diagnosis were carried out through G-banded chromosomal karyotyping, single nucleotide polymorphism array (SNP-array) and methylation multiplex ligation-dependent probe amplification (MS-MLPA). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: L2024-11-028). RESULTS: The four cases of pathogenic UPD had involved chromosomes 2, 11, 15 and 16, respectively, of which 2 cases were accompanied by fetal ultrasound abnormalities, One fetus was shown a high risk by serological screening, while another showed a high risk by non-invasive DNA testing. The karyotype of fetus 1 was 45,X?,rob(13;15)(q10;q10), and its parents had both carried a Robertsonian translocation involving chromosomes 13 and 15, whilst the karyotypes of other three fetuses were all normal. Pedigree analysis indicated that the UPDs in three cases were paternally derived, and the remaining one was unknown. The causes of the four cases included imprinting syndrome in two cases, autosomal recessive disorder in one case, and cryptic mosaic trisomy in one case. CONCLUSION The clinical phenotypes of UPD are diverse, and the mechanisms are complex. Combined chromosomal karyotyping, SNP-array, MS-MLPA and other technologies are required to make a clear diagnosis for prenatal genetic counseling and postnatal management.
Humans ; Uniparental Disomy/diagnosis* ; Female ; Pregnancy ; Prenatal Diagnosis/methods* ; Polymorphism, Single Nucleotide/genetics* ; Karyotyping ; Adult ; Genetic Testing ; Male ; Fetus

Objective: To explore the costs and other information of two different treatment plans for pediatric acute promyelocytic leukemia (APL): one is the traditional intravenous drip arsenic (arsenic trioxide) combined with chemotherapy treatment, and the other is a medication family treatment program based on oral arsenic (Realgar-Indigo naturalis formula), in order to provide a reference for the promotion of pediatric APL family treatment mode and the formulation of medical insurance policies. Methods: The medical record homepage data and drug using of pediatric APL from 2010 to 2018 in Institute of Hematology & Blood Diseases Hospital of Chinese Academy of Medical Sciences & Peking Union Medical College were retrospectively analyzed, and the newly diagnosed pediatric patients (≤14 years old) with APL were included. The hospitalization expenses and hospitalization time of two treatment options were compared. One treatment option was Chinese children APL treatment plan 2010 (CCAPL 2010), which was based on intravenous drip arsenic trioxide. The other was Chinese Children Cancer Group APL treatment plan 2017 (CCCG-APL 2017), which was based on oral Realgar-Indigo naturalis formula. Results: A total of 79 pediatric APL patients were included and grouped according to the treatment plans, 56 patients were treated with CCAPL 2010 plan, and 23 patients were treated with CCCG-APL 2017 plan. The median costs of one single pediatric APL patient in CCAPL 2010 plan was 167 700 yuan (95 800-386 600 yuan), and the median hospital stay time of one single pediatric APL patient was 102 days (14-157 days). The median costs of one single pediatric APL patient in CCCG-APL 2017 plan group was 118 700 yuan(50 800-270 600 yuan), and the median hospital stay time of one single pediatric APL patient was 37 days(5-96 days). The costs and hospital stay time of one single pediatric APL patient with CCCG-APL 2017 plan were remarkably less than those of one single pediatric APL patient with CCAPL 2010 plan (U = 178, P < 0.01; U = 66, P < 0.01). Conclusions The CCCG-APL 2017 plan simplifies the treatment plan compared with the CCAPL 2010 plan and significantly reduces the patient's medical expenses and shortens the hospitalization days. The CCCG-APL 2017 plan is suitable for family therapy and has good social and economic benefits, which is worthy of clinical promotion.

OBJECTIVETo evaluate the clinical effects on incomplete intestinal obstruction treated with the adjuvant therapy of acupuncture and moxibustion.

METHODSUsing the retrospective analysis, 80 patients of incomplete intestinal obstruction were divided into an observation group and a control group, 40 cases in each one. In the control group, the routine treatment was given, such as fasting, gastrointestinal decompression, parenteral nutrition, infection prevention with antibiotics and enema laxative. In the observation group, on the basis of the treatment as the control group, acupuncture was applied at bilateral Zusanli (ST 36), Shangjuxu (ST 37) and Xiajuxu (ST 39); moxibustion was used at left Yangchi (TE 4), Zhongwan (CV 12), Qihai (CV 6) and Guanyuan (CV 4). The treatment was given once a day, 30 min each time. The average days of treatment, the surgical transfer rate, the time to first flatus, the recovery time of defecation and the time of solid food intake were observed in the patients of the two groups.

RESULTSThe average days of treatment in the observation group was obviously less than that in the control group (<0.05). The surgical transfer rate in the observation group was obviously lower than that in the control group (<0.05). The time to first flatus, the recovery time of defecation and the time of solid food intake were all obviously earlier than those in the control group (all <0.05).

CONCLUSIONThe adjuvant therapy of acupuncture and moxibustion achieves the significant therapeutic effects on incomplete intestinal obstruction, shortens the treatment duration and reduces the surgical transfer rate and the patient's economic burden.