This paper reported a case of fetal congenital chloride diarrhea (CCD) indicated by prenatal ultrasound and confirmed by whole-exome sequencing. At 26 weeks and two days of gestation, a routine prenatal ultrasound revealed fetal bowel dilation and numerous floating echogenic particles in the amniotic fluid, suggesting the possibility of CCD. Multiple follow-up ultrasounds in late pregnancy showed persistent bowel dilation, polyhydramnios with numerous floating echogenic particles, and fetal development larger than the gestational age. Whole-exome sequencing and Sanger validation revealed two compound heterozygous mutations in the fetal SLC26A3 gene: c.2006C>A (p.S669*) inherited from the mother and c.1355T>A (p.L452Q) inherited from the father, leading to a diagnosis of CCD. Postnatally, the infant exhibited persistent watery diarrhea. Based on prenatal ultrasound and diagnostic results, the infant was immediately given intravenous and oral electrolyte supplementation after birth, preventing severe electrolyte imbalance. As of June 2024, the infant was five months old, with follow-up showing good growth and development.

This paper reported a case of fetal congenital chloride diarrhea (CCD) indicated by prenatal ultrasound and confirmed by whole-exome sequencing. At 26 weeks and two days of gestation, a routine prenatal ultrasound revealed fetal bowel dilation and numerous floating echogenic particles in the amniotic fluid, suggesting the possibility of CCD. Multiple follow-up ultrasounds in late pregnancy showed persistent bowel dilation, polyhydramnios with numerous floating echogenic particles, and fetal development larger than the gestational age. Whole-exome sequencing and Sanger validation revealed two compound heterozygous mutations in the fetal SLC26A3 gene: c.2006C>A (p.S669*) inherited from the mother and c.1355T>A (p.L452Q) inherited from the father, leading to a diagnosis of CCD. Postnatally, the infant exhibited persistent watery diarrhea. Based on prenatal ultrasound and diagnostic results, the infant was immediately given intravenous and oral electrolyte supplementation after birth, preventing severe electrolyte imbalance. As of June 2024, the infant was five months old, with follow-up showing good growth and development.

OBJECTIVE： To investigate and evaluate perioperative medication in elective surgery elderly patients， and to provide reference for perioperative medication management of clinical pharmacists for elderly patients. METHODS： Totally 210 elective surgery elderly patients were selected from Beijing Tsinghua Chang Gung Hospital during Oct. 2015 to Oct. 2016. Pharmacists carried out drug reconstitution， obtained information about their diseases and medication， analyzed and evaluated perioperative medication （indication， usage and dosage， interaction， drug selection， if these drugs should be stopped before surgery） according to Optimal Guidelines for Preoperative Evaluation of Elderly Patients so as to put forward related medication suggestions. RESULTS： Among 210 patients， there were 132 males （62.86％） and 78 females （37.14％） with an average age of （69.96±7.67） years； 43.81％ of patients had more than 3 kinds of diseases， and 13.33％ of patients suffered from more than 5 kinds of diseases； 31.43％ of patients took more than 5 kinds of drug for long term before surgery； 38.10％ patients had more than 2 drug-induced risks； The preoperative medication of 110 patients （52.38％） included drugs that should be avoided before surgery （such as antiplatelet aggregation agents）， 23 patients （10.95％） had potentially inappropriate medication （such as proton pump inhibitors）， 12 patients （5.71％） should use drugs （such as aspirin） cautiously， 35 patients （16.67％） should use drugs （β receptor blocker） continuously during perioperative period. The pharmacists provided 177 times of medication suggestions such as stopping some medications for patients and physicians through medication reconciliation and preoperative medication evaluation （71 times for patients， 106 times for physicians）； the final adoption rates were 100％ and 95.28％， respectively. CONCLUSIONS： The elderly patients have many preoperative complications， various risk factors， multiple medications， so it is vital for their preoperative medication management. The medication reconciliation is an effective way to evaluate preoperative medication in elderly patients， preoperative medication evaluation and analysis in elderly patients is of great significance to ensure the safety of clinical medication.