ABSTRACT
Objective:To explore the clinical and genetic features of Xp21 contiguous gene deletion syndrome, in order to improve clinicians′ understanding of the disease.Methods:The clinical manifestations, diagnosis and treatment process as well as genetic characteristics of 3 brothers from 1 family with Xp21 contiguous gene deletion syndrome were studied.Literatures were retrieved with key words including " Xp21 contiguous gene deletion syndrome" and " complex glycerol kinase deficiency" in CNKI, VIP database, Wanfang database, Biomedicine Literature database (PubMed) and Web of Science from the database establishment to December 2019, and the relevant features were reviewed.Results:The surviving proband was a boy, the fourth child and the fourth birth.He was suspected as congenital adrenal hyperplasia(salt-losing type) because of significant hyperpigmentation and obviously increased plasma adrenocorticotropic hormone (ACTH)in the neonatal period.Serum triglyceride and creatine phosphokinase were elevated, and urine analysis revealed massive glyceroluriam in this patient.But his serum 17-hydroxyprogesterone was normal.5.16 Mbp deletion in Xp21.3p21.1 was detected by single nucleotide polymorphisms, and the diagnosis of Xp21 contiguous gene deletion syndrome was confirmed.After the supplements of hydrocortisone and fludrocortisone, pigmentation was improved, and the serum ACTH became normal.Now, the patient was 3 years and 8 months old, having pseudomuscle hypertrophy, intellectual and language developmental delay, but no the electrolyte disorder.His parents and 18-years-old sister were healthy.While his two elder brothers who were suspected as cerebral palsy and muscular atrophy due to the symptoms of dark skin color and psychomotor development delay after birth died at the age of 1 year and 1.5 years, respectively.Deletions in Xp21.3p21.1 region were found in his mother and elder sister.A total of 22 cases with full and complete clinical data and definite genetic diagnosis were collected from domestic and foreign literature, and 13 cases of them had the onset during the neonatal period.The main symptoms were congenital adrenal insufficiency, muscular dystrophy, hypertriglyceridemia, developmental retardation in most cases, and special facial features in a few cases.Besides, these patients had large fragment deletion in Xp21 region and the major deleted genes included NR0B1, GK and DMD genes, etc. Conclusions:Xp21 contiguous gene deletion syndrome has a complex clinical phenotype and is easy to be misdiagnosed, it can lead to adrenal insufficiency and poor prognosis in the neonatal period.It is necessary to make differential diagnosis by serum biochemical and genetic analysis.
ABSTRACT
Objective To explore the feasibility and guiding value of point-of-care ultrasound (PoCUS) in evaluating gastric residual volume (GRV) in the course of implementing enteral nutrition (EN) in patients with neurological critical illness. Methods Ninety patients with critical neurological diseases necessary for EN were admitted to the Department of Intensive Care Unit (ICU) of Taizhou Hospital of Integrated Traditional Chinese and Western Medicine from March 1, 2017 to September 30, 2018 were selected, and they were randomly divided into a GRV extraction group (control group) and a PoCUS GRV group (study group), 45 patients in each group. Both groups were fed with Ruidai nutrient solution by nasogastric pump at a rate of 18 hours per day to persistently administer the target feeding volume for consecutive 7 days. The differences in tolerance of EN, the incidence of feeding interruption, the daily volume of EN fluid, the ratio of reaching total enteral nutrition (TEN) and the levels of serum albumin (Alb), prealbumin (PA) and prognosis were compared between the two groups. Results The incidences of reflux and wrong aspiration in the study group were significantly lower than those in the control group [8.9% (4/45) vs. 24.4% (11/45) and 4.4% (2/45) vs. 17.8% (8/45), both P < 0.05]. The EN liquid volume, ratio of reaching TEN, Alb and PA levels in the study group were significantly higher than those in the control group [EN liquid volume (mL/d): 944.6±277.1 vs. 783.7±230.5, the ratio of TEN: 86.7% (39/45) vs. 68.9% (31/45), Alb (g/L): 30.6±3.0 vs. 29.4±2.4, PA (g/L): 280.5±31.8 vs. 267.7±28.4, all P < 0.05]. The incidence of diarrhea [15.6% (7/45) vs. 13.3% (6/45)], the incidence of feeding interruption [8.9% (4/45) vs. 13.3% (6/45)], the length of stay in ICU (days: 10.4±6.2 vs. 8.3 ±5.4), the mortality [8.9% (4/45) vs. 13.3% (6/45)] had no significant differences between the two groups (all P > 0.05). Conclusion Evaluating GRV by PoCUS to adjust EN implementation plan can reduce the incidences of reflux and wrong aspiration and increase the EN intake.