A registration form for orthopedics in-plant metal materials is designed to improve their management.The standardized operation process resulting from the registration form makes medical disputes due to quality problems of in-plant metal materials decreased greatly.Applied in 637 cases of orthopedics operations,the registration form is satisfactory.

The weakness of the boiler high pressure steam sterilizer is put forward.The development process and actual application value of the hot steam electrical generator is mainly introduced.

Objective To investigate the clinical and genetic characteristics in a male patient with 21hydroxylase deficiency combined with adrenal and testicular tumors.Methods Clinical features and laboratory data were collected from the patient.Testicular biopsy was performed.The CYP21 gene was sequenced for mutations.Results The patient presented left adrenal and testicular enlargements.The laboratory examinations showed that plasma ACTH,androstenedione,testosterone,progesterone,and 17-hydroxyprogesterone were markedly elevated.CT scan revealed that the right adrenal gland being resected and the left adrenal with nodular enlargement.Furthermore,testicular biopsy showed a prominent peritubular fibrosis with increased number of peritubular fibroblasts,tubular hyalinisation,and calcification.Sequencing analysis showed a A>G homozygous mutation at intron 2.Conclusion Patients with untreated 21-hydroxylage deficiency may.have adrenal adenomas and(or)testicular adrenal rest tumor simultaneously.

The clinical and genetic characteristics in a patient with 46,XY complete gonadal dysgenesis was investigated. Clinical features and laboratory data were collected from the patient and the family. The exon of SRY gene was amplified by PCR and sequenced. The patient presented with primary amenorrhea, nonambiguous female external genitalia, slight breast development, and no axillary hair or pubic hair. The female internal reproductive organs consisted of uterus and streaks of ovarian tissue. Howerver, the chromosome karyotype was 46,XY. A missense mutation of A66T in SRY gene was identified, which was not previously reported. The novel SRY mutation caused the sex reversal in this 46,XY female patient.

Objective To investigate the clinical and genetic characteristics in two patients with androgen insensitivity syndrome. Methods Clinical features and laboratory data were collected from the patients and their families. All exons of the androgen receptor gene were amplified by PCR and PCR products were sequenced. Results Patient 1 presented with unambiguous female external genitalia, unilateral gynecomastia and primary amenorrhea. He did not have axillary hairs or pubic hairs. Patient 2 presented with undervirilization including scanty body hairs, gynecomastia and hypospadias. A missense mutation of

Objective21 -hydroxylase deficiency ( 21-OHD) patients are at high risk of developing metabolic syndrome.Low dose of glucocorticoid is crucial in the treatment.This study is to investigate the effect of glucocorticoid therapy on potential metabolic disorders.Methods Thirty-two treated and 31 untreated 21-OHD patients were recruited.The components of metabolic syndrome were investigated in both groups.Results Serum testosterone [ (0.61 ±0.12 vs 4.10±0.66) ng/ml,P＜0.01 ],17-(OH) progesterone[ 17-OHP,( 14.83±3.48 vs 48.52±4.72 )ng/ml,P＜0.01 ],dehydroepiandrosterone sulfate[ DHEAS,(55.7±23.6 vs 405.2±65.7 ) μg/dl,P＜0.01 ],and ACTH[ ( 105.8±44.7 vs 617.4± 163.3 ) pg/ml,P＜0.01 ] levels were significantly reduced,whereas body mass index [ ( 23.2±0.9 vs 21.1 ±0.5 ) kg/mz,P＜0.05 ],systolic blood pressure [ ( 120.5 ± 1.3 vs 115.5 ± 1.8 ) mm Hg,P＜0.05,1 mm Hg =0.133 kPa ],serum triglyceride [ ( 1.8±0.2 vs 1.1 ±0.1 ) mmol/L,P＜0.05 ],and homeostasis model assessment for insulin resistance [ HOMA-IR,( 2.07 ± 0.27 vs 1.16 ± 0.12 ),P ＜ 0.01 ] were markedly increased in glucocorticoid treated group.Multivariates regression analysis showed that body mass index was the most important risk factor for HOMA-IR.The correlation of glucocorticoid replacement and HOMA-IR was not observed after adjustment of age and body mass index.ConclusionGlucocorticoid treatment increases body weights,which leads to insulin resistance and metabolic disorders for 21-OHD patients.More attention should be paid to control BMI and metabolic disturbances in 21-OHD patients.

OBJECTIVETo explore the value of multiplex ligation-dependent probe amplification (MLPA) for the detection of chromosome abnormalities in miscarriage tissues, and to correlate the result with ultrasound findings.

METHODSA total of 421 cases of spontaneous abortions and fetal deaths were detected with the MLPA method.

RESULTSAmong the 421 samples, 232 (55.11%) had an abnormal MLPA result. For the 286 cases derived from < 13 weeks pregnancy, 206 (72.03%) were abnormal. For the 49 cases from 14-19 weeks pregnancy, 14 (28.57%) were abnormal. For the 86 cases derived after 20 weeks pregnancy, 12 (13.95%) were abnormal. Among the 117 cases with abnormal ultrasound findings, 33 cases (28.21%) had an abnormal MLPA result, 28 out of the 33 cases were numerical chromosome abnormality, 4 cases were chromosome microdeletion and/or micro duplication, 1 case had both numerical abnormality and microduplication. For those with abnormal ultrasound findings for the neck region, fetal edematous syndrome, multiple malformations and digestive system, the detection rates for MLPA were 71.4%, 58.8%, 37.8%, and 9.1%, respectively. For those with abnormal finding of cardiac system, nervous system, face, skeletal system and urinary system, none was found with positive results of MLPA.

CONCLUSIONNumerical chromosomal abnormalities account for the majority of cases with spontaneous abortion. With the increase of gestational age, the occurrence of chromosomal abnormalities gradually declines. Combined ultrasound and MLPA assay can improve the detection rate and accuracy for chromosomal abormalities.

Abortion, Spontaneous ; diagnostic imaging ; genetics ; Chromosome Deletion ; Chromosome Disorders ; diagnostic imaging ; genetics ; Chromosome Duplication ; DNA ; analysis ; Female ; Fetal Diseases ; diagnostic imaging ; genetics ; Gestational Age ; Humans ; Multiplex Polymerase Chain Reaction ; methods ; Pregnancy ; Reproducibility of Results ; Sensitivity and Specificity ; Telomere ; genetics ; Ultrasonography, Prenatal ; methods

OBJECTIVE: To carry out carrier screening for Spinal muscular atrophy (SMA) in reproductive-aged individuals from Dongguan region and determine the carrier frequency of SMN1 gene mutations. METHODS: Reproductive-aged individuals who underwent SMN1 genetic screening at the Dongguan Maternal and Child Health Care Hospital from March 2020 to August 2022 were selected as the study subjects. Deletions of exon 7 and 8 (E7/E8) of the SMN1 gene were detected by real-time fluorescence quantitative PCR (qPCR), and prenatal diagnosis was provided for carrier couples by multiple ligation-dependent probe amplification (MLPA). RESULTS: Among the 35 145 subjects, 635 were found to be carriers of SMN1 E7 deletion (586 with heterozygous E7/E8 deletion, 2 with heterozygous E7 deletion and homozygous E8 deletion, and 47 with sole heterozygous E7 deletion). The carrier frequency was 1.81% (635/35 145), with 1.59% (29/1 821) in males and 1.82% (606/33 324) in females. There was no significant difference between the two genders (χ² = 0.497, P = 0.481). A 29-year-old woman was found to harbor homozygous deletion of SMN1 E7/E8, and was verified to have a SMN1∶SMN2 ratio of [0∶4], none of her three family members with a [0∶4] genotype had clinical symptoms. Eleven carrier couples had accepted prenatal diagnosis, and one fetus was found to have a [0∶4] genotype, and the pregnancy was terminated. CONCLUSION This study has determined the SMA carrier frequency in Dongguan region for the first time and provided prenatal diagnosis for carrier couples. The data can provide a reference for genetic counseling and prenatal diagnosis, which has important clinical implications for the prevention and control of birth defects associated with SMA.
Humans ; Child ; Pregnancy ; Male ; Female ; Adult ; Homozygote ; Sequence Deletion ; Prenatal Diagnosis ; Genetic Testing ; Muscular Atrophy, Spinal/genetics* ; Survival of Motor Neuron 1 Protein/genetics* ; Genetic Carrier Screening