Clinical Analysis of Pyocele of Tunica Vaginalis in 56 Newborns.

OBJECTIVE: This study aimed to explore the clinical characteristics, treatment methods, and prognosis of neonatal pyocele of tunica vaginalis and to provide a reference for the clinical treatment. METHODS: A total of 56 newborns with pyocele of tunica vaginalis were admitted to our hospital due to the scrotal emergency from January 2015 to January 2020. Our study retrospectively analyzed these 56 cases. Of the 56 cases, including 32 full-term infants and 24 premature infants, age ranged from 1 to 27 days. Initially, conservative treatment (intravenous antibiotic treatment) was applied to 42 cases, and surgery to 14 cases. Then, 7 underwent surgical exploration during the conservative treatment, and 2 cases with initial surgical treatment experienced orchiectomy because of complete necrosis. For 56 cases, the average follow-up time was 18 months. RESULTS: The clinical recovery time of cases with conservative treatment ranged from 8 to 17 days, with an average of 11.02 ± 2.31 days. The clinical recovery time of cases with surgery ranged from 6 to 15 days, with an average of 9.28 ± 2.78 days. During the follow-up, for 56 cases, except for the 2 cases with orchiectomy, the testicular position and Doppler flow both went back to normal, of the 42 cases with initial conservative treatment, 1 case experienced testicular retardation, of the 14 cases with initial surgical treatment, 2 cases experienced testicular retardation, and hydrocele of 42 cases were self-healed. CONCLUSIONS: Neonatal pyocele of tunica vaginalis is mostly secondary to intra-abdominal infection. Color Doppler ultrasound is helpful for the diagnosis. The percutaneous aspiration is a way of collecting pathogenic bacteria during the conservative treatment. If the color Doppler suggests testicular involvement, surgical exploration should be performed.

Analysis of the ratio of mitchondrial DNA with A1555G mutant to wild type in deaf patients of Fujian province in China by a new method and its relationship with the severity of hearing loss / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>It has been suggested that the ratio of mutant and wild type mitochondrial DNA may be related to its clinical phenotype. In this study, we developed a high sensitive real-time amplification refractory mutation system-quantitative polymerase chain reaction (RT-ARMS-qPCR) assay for quantitation of the mitochondrial DNA (mtDNA) with a mutated 1555 site, and explored the relationship between the ratio of mutated mtDNA and the severity of hearing loss of mitochondrial deafness (MD) patients of Fujian province in China.</p><p><b>METHODS</b>An amplified mtDNA fragment containing the 1555 site was ligated into a vector to construct a plasmid DNA standard. An RT-ARMS-qPCR system was used to measure the mtDNA copy number containing wild-type and mutant sequences in a cohort of 126 MD patients of Fujian province in China. Combined with the clinical data, we explored the relationship between the ratio of mutated mtDNA and the severity of hearing loss of MD.</p><p><b>RESULTS</b>The variation coefficient in the cohort was 1.21%, the interassay variation coefficient was 1.78%, and the linear range was 10(2) - 10(8) copies/µl for detecting a recombinant, wild-type plasmid. The primers amplified only the intended sequences. Mutation copy number correlated with the degree of deafness in sporadic cases with heteroplasmic mutations of mtDNA A1555G (R = 0.811, P = 0.003), but not in sporadic cases with homoplasmic mutations (R = 0.007, P = 0.989). The copy number of homoplasmic or heteroplasmic mutations of mtDNA A1555G in familial cases correlated with degree of deafness (R = 0.352, P = 0.023 and R = 0.90, P = 0.012, respectively).</p><p><b>CONCLUSIONS</b>The RT-ARMS-qPCR system is suitable for determining the copy number of mtDNA fragments containing the A1555G mutation. The ratio of mutated mtDNA correlates with the severity of hearing loss of MD.</p>

[Modified tubularized incised plate technique for hypospadias: a report of 169 cases].

OBJECTIVE: To explore the clinical application of the tubularized incised plate (TIP) in the surgical treatment of hypospadias. METHODS: This study included 169 cases of hypospadias treated by TIP surgery from January 2007 to April 2009. The patients ranged in age from 1.5 to 12 years (mean 3.68 yr). The TIP technique was modified based on that described by Snodgrass, with the urethral plate longitudinally incised and a urethral stent kept in place. The patients were hospitalized for 10 days postoperatively, and followed up for an average of 2 years, ranging from 6 months to 3 years. RESULTS: Complications developed in 18 (10.6%) of the patients, most frequently meatal stenosis (9 cases, 5.3%) and urethrocutaneous fistula (8 cases, 4.7%). CONCLUSION: The TIP technique, as a surgical method, can be applied to most hypospadias cases. The accumulation of clinical experience and skills may help raise the success rate and reduce the complications of TIP surgery.

Quantification of Mitochondrial DNA with the A1555G Mutation in Deaf Patients Using Real-Time Amplification Refractory Mutation System-Quantitative PCR.

The objective of this study was to develop a real-time amplification refractory mutation system-quantitative PCR (RT-ARMS-qPCR) assay for quantitation of mitochondrial DNA (mtDNA) with a mutated 1555 site and to explore the relationship between the degree of mtDNA1555 mutation and the clinical phenotype of mitochondrial deafness. An amplified mtDNA fragment containing the 1555 site was ligated into a vector to construct a plasmid DNA standard. An RT-ARMS-qPCR system was then used to measure the mtDNA copy number containing wild-type and mutant sequences in a cohort of 96 deaf patients. The variation coefficient in the cohort was 1.34%; the interassay variation coefficient was 1.96%; and the linear range was 10(2) to 10(8) copies/mul for detecting a recombinant, wild-type plasmid. The primers amplified only the intended sequences. Mutation copy number correlated with the degree of deafness in sporadic cases with heteroplasmic mutations of mtDNA A1555G (r = 0.771, P = 0.003), but not in sporadic cases with homoplasmic mutations (r = 0.001, P = 0.997). Furthermore, the copy number of homoplasmic or heteroplasmic mutations of mtDNA A1555G in familial cases correlated with degree of deafness (r = 0.341, P = 0.022 and r = 0.85, P = 0.015, respectively). The RT-ARMS-qPCR system was therefore suitable for determining the copy number of mtDNA fragments containing the A1555G mutation, and mtDNA A1555G copy number correlates with severity of hearing loss.

Mitochondrial DNA A1555G mutation of seven families with nonsyndromic hearing loss / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study mitochondrial DNA (mtDNA) A1555G mutation in seven families with nonsyndromic hearing loss (NSHL).</p><p><b>METHODS</b>Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and real time-amplification refractory mutation system-quantitative PCR (ARMS-qPCR) were applied to detect mtDNA A1555G mutation in seven NSHL families. Related clinical data were also collected and analyzed.</p><p><b>RESULTS</b>The mtDNA A1555G mutation was detected in members from the maternal side, including heteroplasmy and homozygosis, others were negative for this mutation. The copy number of homoplasmic or heteroplasmic mutations of mtDNA A1555G correlated well with the degree of deafness (R = 0.341, P = 0.022 and R = 0.85, P = 0.015, respectively).</p><p><b>CONCLUSION</b>The mutation rate of the mtDNA A1555G is high in the NSHL patients, the mutation type include heteroplasmy and homozygosis. There is significant correlation between the mtDNA A1555G copy number and the severity of hearing loss.</p>

Novel mutation and polymorphism of PRSS1 gene in the Chinese patients with hereditary pancreatitis and chronic pancreatitis / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Mutations in the cationic trypsinogen gene (PRSS1) have been detected in patients with hereditary pancreatitis (HP). This study investigated the prevalence of the R122H (c.365 G > A), A121T (c.361 G > A) and D162D (c.488 C > T) mutations or polymorphisms in the common, non-hereditary forms of chronic pancreatitis and in an HP family.</p><p><b>METHODS</b>DNA was prepared from blood samples of 54 patients with chronic pancreatitis (35 alcoholic, 17 idiopathic and 2 hereditary) and 120 normal controls. The PRSS1 genes were amplified by polymerase chain reaction (PCR) and their products were analyzed by sequencing and related clinical data were also collected.</p><p><b>RESULTS</b>A new polymorphism (c.488 C > T) of PRSS1 was found in 25 patients with chronic pancreatitis (including one affected member of the HP family) and six members of the normal controls. The C/T genotype was significantly increased in chronic pancreatitis (OR: 16.379, 95% CI: 5.7522 - 52.3663), the frequency of c.488 C > T change was in according with the Hardy-Weinberg equilibrium, but it doesn't affect the clinical phenotype. The commonly reported change of R122H (c.365 G > A) was not detected in any of the study subjects. c.361 G > A was found in 2 affected members and one unaffected carrier in an HP family. One of the affected members of an HP family had c.361 G > A mutation and polymorphism (c.488 C > T) in the PRSS1 gene at the same time. The patient's clinical values (C3, C4, CA19-9 and HbA1c) were higher than those of the other patients with chronic pancreatitis. The two patients with HP developed diabetes mellitus and their father died with pancreatic cancer.</p><p><b>CONCLUSION</b>A new polymorphism (c.488 C > T) in the PRSS1 gene is associated with chronic pancreatitis, but it did not affect the clinical phenotype while the A121T (c.361 G > A) mutation in the gene shows a significant correlation in the patients with HP.</p>

Study of mitochondrial DNA A1555G mutation among nonsyndromic hearing impairment in Chinese population / 中华检验医学杂志

Objective To study the prevalence of the mtDNA A1555G gene mutation in Chinese population with nonsyndromic hearing impairment.Methods PCR-RFLP,directional sequencing of PCR products were applied in 325 patients with nonsyndromic hearing impairment and 50 normal controls.Results The mutation rate of the mtDNA A1555G was 14.5% (47/325),28 of 47 cases were homozygosis,19 of 47 cases were heterozygosis.The same mutation was not detected in the control subjects.Conclusion The mutation rate of the mtDNA A1555G is relatively high in the Chinese NSHI patients,the mutation type includes both heterozygosis and homozygosis.