Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1.

The 18q12.3 region contains the SET binding protein 1 (SETBP1) gene. SETBP1 mutations or deletions are associated with Schinzel-Giedion syndrome or intellectual developmental disorder, autosomal dominant 29.

Vitamin AD Drops are More Effective than Intramuscular Injection of Thymosin in Reducing the Rate of Growth Retardation in Children.

Objective: To explore the effect of vitamin AD drops on growth retardation in children.

Methods: From February 2020 to February 2021, 100 children with constipation and recurrent respiratory infections treated in our hospital were assigned to a vitamin AD drops group and intramuscular thymosin group, with 50 cases in each group. Outcome measures included mean height, body mass index (BMI), frequency of respiratory infections, increase in height and BMI, growth retardation, clinical effectiveness, immune function, medication compliance, and adverse responses.

The Efficacy of Calcium Carbonate-Vitamin D3 in Pregnant Women for the Prevention of Hypertensive Disorders in Pregnancy.

Objective: To evaluate the efficacy of calcium carbonate-vitamin D3 in pregnant women for the prevention of hypertensive disorders in pregnancy.

Methods: Between April 2020 and June 2021, 60 pregnant women undergoing prenatal examinations in our hospital were recruited and assigned via the random number table method at a ratio of 1 : 1 to receive conventional pregnancy care (observation group) or conventional pregnancy care plus calcium carbonate-vitamin D3 administration (experimental group). Outcome measures included blood pressure, blood calcium, the occurrence of hypertensive disorders, and adverse events.

Effect of Calcium Carbonate Preparation on Malnutrition in Preschool Children.

Objective: To analyze the effect of calcium carbonate preparations on malnutrition in preschool children.

Methods: A total of 100 preschool malnourished children treated in our hospital from February 2020 to February 2021 were recruited and assigned to a calcium carbonate preparation group or calcium lactate preparation group via the random number table method, with 50 cases in each group. Outcome measures included bone content, malnutrition symptom scores, nutritional indices, urine calcium, patient compliance, and treatment satisfaction.

Ultrasound Comparative Analysis of Coronary Arteries before and after Immune Blocking Therapy with Gamma Globulin in Children with Kawasaki Disease.

Objective: To investigate the ultrasound characteristics and clinical efficacy of coronary arteries before and after immune blocking therapy with gamma globulin in children with Kawasaki disease.

Methods: A total of 64 children with Kawasaki disease who were treated in our hospital from January 2018 to October 2021 were selected. All the children were given immune blocking therapy with gamma globulin on the basis of conventional treatment.

Associations of exposure to multiple metals with blood pressure and hypertension: A cross-sectional study in Chinese preschool children.

Exposure to metals might be a risk factor for hypertension, which contributes largely to the global burden of disease and mortality. However, relevant epidemiological studies of associations between metals exposure with hypertension among preschoolers are limited. This study aimed to explore the associations of urine metals with blood pressure and hypertension among Chinese preschoolers.

Efficacy and Satisfaction Evaluation of Rapid Rehabilitation Nursing Intervention in Patients with Laparoscopic Myomectomy.

Objective: To evaluate the efficacy and satisfaction of rapid rehabilitation nursing in patients with laparoscopic myomectomy.

Methods: In this retrospective study, a total of 60 patients scheduled for a laparoscopic myomectomy in our hospital from January 2019 to February 2022 were enrolled and assigned at a ratio of 1 : 1 to receive either routine nursing (routine group) or rapid rehabilitation nursing (study group) according to different nursing methods. Outcome measures included nursing efficiency and nursing satisfaction.

Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family.

Background: Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints (BP) for 15q rearrangements. 15q11.2 microdeletion has been previously associated with developmental delay, mental retardation, epilepsy, autism, schizophrenia and congenital heart defects.

Value of Intensive Nursing Detail Management in Intensive Care Unit Nursing.

Objective: To evaluate the value of intensive nursing detail management in intensive care unit (ICU) nursing.

Methods: In this prospective study, 100 ICU patients in Shiyan Maternal and Child Health Hospital between January 2019 and March 2020 were assessed for eligibility and recruited. They were concurrently randomly assigned (1 : 1) to receive either conventional nursing (control group) or intensive nursing detail management (study group).

The Effectiveness and Safety of Ropivacaine and Medium-Dose Dexmedetomidine in Cesarean Section.

: To study the effects of epidural anesthesia with different doses of dexmedetomidine and ropivacaine on postoperative hemodynamics and neonatal outcome of cesarean section parturients. . A total of 90 parturients who underwent cesarean section admitted to our hospital from January 2019 to January 2020 were selected as the research objects and were divided into groups A, B, and C according to different dosages of dexmedetomidine, with 30 cases in each group.

Prenatal diagnosis of a novel 7q31.31q31.33 microduplication with a favorable outcome.

Background: Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. Especially CNVs identified in prenatal cases need careful considerations and correct interpretation if those are harmless or harmful variants from the norm.

Case Presentation: Herein, we reported a paternally inherited duplication of 7.

Aminophylline in combination with caffeine citrate in neurodevelopmental treatment and follow-up of high-risk preterm infants using GMs assessment.

To explore the application effect of aminophylline combined with caffeine citrate and GMs in the evaluation of neurodevelopmental treatment and follow-up in high-risk preterm infants. A retrospective analysis of 66 high-risk preterm infants admitted to Hengshui People's Hospital from January 2020 to June 2021 was conducted. The children who received only conventional treatment were set as the control group, while those who received aminophylline and caffeine citrate on the basis of conventional treatment were set as the experimental group, 33 cases each group; GMs were used to evaluate the neurodevelopmental function of the children, and the treatment effect was analyzed.

Correlation between serum vitamin D expression and changes of immune indexes in children with pneumonia of different degrees.

To explore the correlation between serum vitamin D expression and changes in immune indicators in children with different degrees of pneumonia. From January 2019 to January 2020, 60 children with pneumonia admitted to our hospital and 30 healthy children who came to our hospital for physical examination were selected as the research subjects, and divided into the severe group (severe pneumonia) and the mild group (mild pneumonia), each 30 cases, and 30 healthy children were set as control group. The serum vitamin D level was observed and detected, and its correlation with humoral and cellular immune indicators were analyzed.

Study on effects of care bundles on patients with severe pneumonia complicated with respiratory failure.

Objective: This study was designed to determine the effects of care bundles on patients with severe pneumonia complicated with respiratory failure and to discuss the adverse reaction rate in prognosis.

Methods: A total of 64 patients with both severe pneumonia and respiratory failure admitted to the intensive care unit (ICU) of our hospital from January 2019 to December 2020 were enrolled as research objects. These patients were equally divided into a control group and an experimental group in a random manner.

17β-Estradiol activates Cl channels via the estrogen receptor α pathway in human thyroid cells.

Estradiol regulates thyroid function, and chloride channels are involved in the regulation of thyroid function. However, little is known about the role of chloride channels in the regulation of thyroid functions by estrogen. In this study, the effects of estrogen on chloride channel activities in human thyroid Nthy-ori3-1 cells were therefore investigated using the whole cell patch-clamp technique.

IDENTIFICATION OF A NOVEL MUTATION IN THE MMAA GENE IN A CHINESE BOY WITH ISOLATED METHYLMALONIC ACIDEMIA.

Background: Isolated methylmalonic acidemia refers to a group of inborn errors of metabolism characterized by elevated methylmalonic acid concentrations in the blood and urine. It occurs in approximately one to three out of every 100 thousand Chinese newborns. Mutations in the MMAA gene cause isolated methylmalonic acidemia.