Objective To analyse and explore the situation and causes of misdiagnosed primary hyperparathyroidism(PHPT),so as to develop some strategies for preventing and reducing misdiagnosis.Methods Clinical data of 94 misdiagnosed patients with PHPT treated in Beijing Jishuitan Hospital from November 1992 to April 2009 were collected and analyzed retrospectively.Results All cases were confirmed by operation and pathology.Among the 94 cases,90 cases were of parathyroid adenoma,and 4 cases of parathyroid carcinoma.The rate of misdiagnosis was 97.9%(94/96).The length of time of misdiagnosis was 2 months to 20 years;

Objective To investigate the prevalence of nutritional risk and malnutrition,and the application of nutrition support in hospitalized patients with surgically treated gynecologic malignant tumors.Methods 237 hospitalized patients with malignant tumors receiving surgery in Department of Gynecology of Beijing Hospital from January 1 to December 31,2013 were continuously sampled.Nutritional Risk Screening 2002 (NRS 2002) was performed in the morning the day after admission.NRS 2002 score ≥ 3 was considered indicating nutritional risk.Malnutrition was judged in accordance with NRS 2002.The application of postoperative nutrition support was recorded.Results The nutritional risk screening was applicable in all the patients (100％).The prevalence of malnutrition was 5.1％ (12/237) in the whole study population,9.2％ in the elderly (≥65 years),significantly higher than that in the patients ＜ 65 years (2.7％) (P =0.034).The nutritional risk rate was 21.1％ (50/237),which was 29.9％ in the patients ≥ 65 years and significantly lower in the patients ＜ 65 years (16.0％) (P =0.014).The nutritional risk rate in the patients with ovarian and endometrial cancers was higher the rate in those patients with vaginal and vulvar cancer was lower.47 patients (19.8％)received postoperative nutrition support,all being parenteral nutrition,including total parenteral nutrition in 13 patients (5.5％) and single transfusion (providing two or more than two amongs glucose,fat emulsion,andi amino acids) in 34 (14.3％).Tube feeding was not applied in all the patients.33 cases (66％) in the 50 patients with nutritional risk were supported by parenteral nutrition,while 14 cases (7.5％) in the 187 patients without nutritional risk were supported by parenteral nutrition.Conclusions There is nutritional risk in the patients with gynecology malignant tumors,the rate of which is higher in elderly patents (≥ 65 years) than in the patients of other age groups.Therefore,attention must be paid to ensure adequate postoperative nutrition support in the elderly patients.

OBJECTIVE: To investigate the genetic characteristics and cause of death for an infant with alveolar capillary dysplasia and pulmonary vein misalignment (ACD/MPV). METHODS: An infant with ACD/MPV diagnosed at the Affiliated Maternity and Child Health Care Hospital of Nantong University in September 2022 was selected as the study subject. Clinical data of the infant were collected. Whole exome sequencing (WES) was carried out to detect genetic variants in the skin tissue, and Sanger sequencing was performed for verifying the candidate variants in the parents. Droplet digital PCR (ddPCR) was used to determine the mosaicism ratio of the variant in different germ layer-derived samples from the father. RESULTS: The infant had died within 2 days after birth due to hypoxemia and respiratory distress. WES revealed that she has harbored a c.433C>T nonsense variant in exon 1 of the FOXF1 gene, which was unreported previously. Sanger sequencing has verified the variant in the infant, with her mother's locus being the wild-type and a minor variant peak noted in her father. ddPCR indicated that the mosaic ratio of the c.433C>T variant in the father's sperm was 27.18%, with the mosaic ratios of the variant in tissues originating from the three germ layers ranging from 11% to 28%. CONCLUSION The c.433C>T variant derived from the paternal germline and somatic mosaicism of the FOXF1 gene had probably predisposed to the neonatal death of this infant. ddPCR is an effective method for detecting mosaic variants.
Female ; Humans ; Pregnancy ; Child ; Infant ; Infant, Newborn ; Male ; Semen ; Infant Death ; Exons ; Mosaicism ; Forkhead Transcription Factors/genetics*

Objective:To compare the efficacy of oral sulfate solution (OSS) and polyethylene glycol (PEG) electrolyte powder for colonoscopy bowel preparation.Methods:A total of 283 randomized patients from 9 centers in China taking OSS ( n=143) or PEG ( n=140) using two-day split bowel preparation regimen received colonoscopy and assessment. The primary index was the bowel preparation success rate [global Boston bowel preparation scale (BBPS)≥ 6 by independent assessment center]. Secondary indices included BBPS global and segmental scores, investigator satisfaction (5-point Likert scale) with the quality of bowel preparation, patient satisfaction assessed by questionnaires, and patient tolerance assessed by Sharma scale. Compliance and safety were compared between the two groups. Results:The bowel preparation success rates were 100.0% for OSS and 99.3% for PEG [adjusted difference 0.7% (95% CI: -5.3% - 6.7%), P<0.001 for non-inferiority]. The BBPS global score in OSS group was significantly higher than that in PEG group (8.1 VS 7.7, P<0.001). The segment BBPS scores were also higher in OSS group than those in PEG group for all 3 segments (right colon: 2.4 VS 2.3, P=0.002; transverse colon: 2.8 VS 2.7, P=0.018; left colon: 2.8 VS 2.7, P=0.007). Investigator Likert score in the OSS group was significantly higher than that in the PEG group (2.6 VS 2.3, P<0.001). There was no significant difference in compliance between OSS and PEG, except for the second dose (90.9% VS 82.6%, P=0.039). There was no significant difference in patient satisfaction, Sharma score or proportion of patients with tolerance-related symptoms between the two groups. Safety was comparable between the two groups, and all adverse events were mild to moderate. Conclusion:OSS has comparable efficacy with PEG, with higher BBPS scores in all segments, better investigator satisfaction, better compliance in split dose, and comparable patient tolerance and safety.

OBJECTIVETo compare the outcomes of adult patients with acute lymphoblastic leukemia (ALL) who underwent autologous hematopoietic stem cell transplantation (auto-HSCT) and allogeneic hematopoietic stem cell transplantation (allo-HSCT).

METHODSFrom Jan 2007 to Dec 2010, 106 adult ALL patients were retrospectively divided into two groups, 50 in auto-HSCT group and 56 in allo-HSCT group. Auto-HSCT group included 21 patients with high-risk, 46 patients in CR1 and 4 cases in CR2. All the 50 patients had negative minimal residual disease (MRD) prior to HSCT. Allo-HSCT group included 44 patients with high risk, 51 patients in CR1 and 5 cases in CR2, 15 patients with positive MRD before allo-HSCT. response, regulatory T cells (Treg), cytokines levels and treatment-related adverse effects were observed.

RESULTSOf the total 106 patients, 29 patients relapsed at a medium follow-up of 22.9(0.8-63.3) months. The 3-year cumulative relapse rate (RR) was (29.9±8.0) % in auto-HSCT group and (32.7±6.8) % in allo-HSCT group. There were no significant differences in RR and overall survival (OS) between auto-HSCT and allo-HSCT groups, even of stratified risk groups. In standard risk group, 3-year OS was (77.1±13.2) % in auto-HSCT group and (90.9±8.7) % in allo-HSCT group (P=0.739). In high-risk group, 3-year OS was (68.7±10.8) % after auto-HSCT and (45.2±8.5) % after allo-HSCT (P=0.094).

CONCLUSIONDue to acceptable RR and OS, adult ALL patients with no MRD before HSCT showed favorable survival. Auto-HSCT may be a considerable choice for adult ALL patients with negative MRD when lacking of donors for allo-HSCT.

Adult ; Allografts ; Hematopoietic Stem Cell Transplantation ; Humans ; Neoplasm, Residual ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Recurrence ; Retrospective Studies ; Transplantation, Homologous