Analysis of diagnosis and treatment of Lesch-Nyhan syndrome / 中华泌尿外科杂志

Objective:To explore the etiology, clinical diagnosis and treatment strategy of Lesch Nyhan syndrome.Methods:We retrospectively analyzed 2 patients with severe dyskinesia, mental retardation and complicated renal calculi who were admitted to the first people's Hospital of Zhengzhou in August 2019. Case 1, male, 9 years old, had multiple urinary calculi for 1 year. The patient came to the local hospital because double multiple kidney stones and bladder stonesa year ago. The patient had been treated with transurethral holmium laser lithotripsy for bladder stones. The results of infrared spectrum showed that the bladder stone was anhydrous uric acid stone. A week ago, color Doppler ultrasound showed multiple kidney stones and bladder stones. The patient was underdeveloped, mentally retarded and had a full-term cesarean section. There was no history of hypoxia, asphyxia and rescue of the patient. He had the following clinical manifestations: In the waking state, he was no language response to any stimulation. The nasolabial fold on the right was shallow and the corner of the mouth was oblique to the left. He lost the large movements such as lifting head, sitting alone, standing. The trunk showed torsion spasticity, limb muscle strength 2-3, limbs showing spastic hypertonia, limb joints stiff, hands showing fist-like, no involuntary movement and muscle fasciculation. The biceps reflex and knee tendon reflex were not elicited, and the pathological reflex was positive. Serum uric acid was 517 μmol/L. The Case 2 came from the same family, male, 6 years old, had the similar symptoms to his elder brother case 1. The family members complained on behalf of the child about intermittent fever for more than 2 years. The imaging examination of case 2 revealed kidney stones. Serum uric acid was 373 μmol/L. Whole Exome Sequencing and Sanger Sequencing were used to find the genetic causes of the two siblings. The NCBI-Homologene database was used to find the homologous sequence of the human HPRT1 gene, and the human HPRT1 gene sequence was compared with other species to analyze the protein conservation. The online website PredictProtein (http: //www.predactprotein) was used to predict the two-dimensional structure of the HPRT1 gene. The reported cases were summarized and same with the treatment plan.Results:A De novo mutation [c.571T>G(p.Tyr191Asp)] was found in the HPRT1 gene of the child, which was inherited from the mother. Lesch Nyhan syndrome can be diagnosed by the results of gene examination combined with clinical manifestations. The amino acid Tyr at the 191 position and the amino acids before and after it were highly conserved. Amino acid 191 was involved in the β-strand of the protein. We treated the patients with the lowest dose of allopurinol and children's conventional dose of potassium sodium bicitrate granules, and low purine diet. After 3 months of treatment, the serum uric acid was decreased, and the urinary calculi did not increase significantly.Conclusions:Combining with the clinical manifestations of children, HPRT1 gene might be the cause of pediatric disease and the two siblings could be diagnosed as Lesch-Nyhan syndrome. For such patients, the lowest dose of allopurinol and children's conventional dose of potassium sodium hydrogen citrate granule combined with diet could be more effective.

Application of array comparative genomic hybridization in prenatal diagnosis of a case with 5q35 deletion syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To use combined G-banding and array-comparative genomic hybridization (aCGH) for the prenatal diagnosis of a fetus with 5q35 deletion syndrome.</p><p><b>METHODS</b>Chromosomal karotypes of the fetus and parents were analyzed with G-banding analysis. aCGH was performed to detect minor chromosomal structural abnormalities.</p><p><b>RESULTS</b>The karyotype of the fetus was ascertained as 46, XY, t(5;10)(q35;p13), and the karyotypes of the parents were normal. aCGH has identified a de novo 1.68 Mb deletion at 5q35.2q35.3 and a 1.44 Mb duplication at 10p14p13.</p><p><b>CONCLUSION</b>aCGH has a higher resolution and greater accuracy for mapping chromosomal aberrations and is a useful supplement for G banding karyptyping analysis.</p>

Phenotypic and genetic analysis of a child carrying a 17q11.2 microdeletion / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze a child with facial abnormalities with combined cytogenetic and molecular techniques and delineate its clinical phenotype.</p><p><b>METHODS</b>Neuropsychological profile of the child was analyzed. Color Doppler, CT and MRI were used for detecting the nodules in the body. Conventional peripheral blood karyotypes of the child and his parents were analyzed with G-banding. Array-comparative genomic hybridization (aCGH) was performed to detect minor structural chromosomal abnormalities.</p><p><b>RESULTS</b>The child had mental retardation, maxillofacial dysmorphism on the right side, and irregular solid nodules on the back. The karyotypes of the child and his parents were all normal, while aCGH has identified a de novo constitutive 1.2 Mb deletion at 17q11.2 in the child. The aCGH results of his parents were normal.</p><p><b>CONCLUSION</b>The de novo 17q11.2 microdeletion probably underlies the facial abnormalities and neurofibromatosis in the patient.</p>

Association of SPO11 and GST gene polymorphisms with idiopathic male infertility in ethnic Han Chinese / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the possible roles of polymorphisms of SPO11 and glutathionine S-transferase (GST) genes in idiopathic male infertility in a ethnic Han Chinese population from Henan.</p><p><b>METHODS</b>Multiplex PCR and DNA sequencing were performed to determine the SPO11 c.517C>T(rs28368082) and GST genes (GSTM1, GSTT1, GSTP1) polymorphisms in 216 idiopathic male infertility cases and 198 normal samples.</p><p><b>RESULTS</b>The frequencies of the SPO11 CC and CT genotypes were 87.5% (189/216) and 12.5% (27/216) in the patients, and 97.5% (193/198) and 2.5% (5/198) in the controls, respectively. The frequencies of SPO11 CC and CT genotypes, the A>G transition at nucleotide 313 in the exon 5 of the GSTP1 gene, and the frequencies of combined genotypes GSTM1 (-/-), GSTT1 (+/+), GSTP1 (AA) and SPO11 (CT) were significantly different between the two groups (P<0.05).</p><p><b>CONCLUSION</b>The rs28368082 polymorphism of the SPO11 gene, the A>G transition at nucleotide 313 in the exon 5 of the GSTP1 gene, and the combined genotypes of GSTM1 (-/-), GSTT1 (+/+), GSTP1 (AA) and SPO11 (CT) may be associated with idiopathic male infertility in ethnic Han Chinese.</p>

Effect of compound prescription cortex phellodendri chinensis fluid on postoperative wound anastomosis nail loss in patients with circumcision by disposable circumcision suture device / 中国生化药物杂志

Objective To discuss cause and treatment measures of the postoperative failed to fully automatic nail in patients with circumcision by disposable circumcision suture device, so as to improve the quality of the circumcision.Methods 182 cases received circumcision by disposable circumcision suture device were randomly selected from September 2014 to March 2015 in the hospital and divided into control group ( n =86 ) and treatment group (n=96).All the patients received oral antibiotics for three days conventionally.Patients in control group were dressing with 0.1%iodine after treatment, dressing change every two or three days, while the treatment group soaking with 30 mL to 40 mL compound prescription cortex phellodendri chinensis fluid for 15 min two times per day.The postoperative wound anastomosis nail loss effect in two groups were compared.Results The time of complete nail loss in patients soaking with compound prescription cortex phellodendri chinensis fluid was significantly shorter than that in patients dressing with 0.1% iodine (P<0.05), but there was no significantly difference of the first time to lose nail between two groups.The rate of complete nail loss in treatment group was 94 cases (97.9%), which was significantly higher than 68 cases (79.1%) in control group (χ2 =16.47,P<0.05). The adverse reactions were mild of two groups.Conclusion The compound prescription cortex phellodendri chinensis fluid has exact effect on postoperative wound anastomosis nail loss and recovery in patients’ with circumcision by disposable circumcision suture device.