Case report of PERCHING syndrome and literature review / 中华实用儿科临床杂志

The clinical data, laboratory testing, genetic testing results, diagnosis and treatment process of a child with PERCHING syndrome diagnosed and treated in the Department of Neonatology, the Third Affiliated Hospital of Zhengzhou University in June 2022 were retrospectively analyzed, and the relevant literatures were reviewed.The proband mainly presented with dyspnea and feeding difficulties after delivery, facial nevus flammeus, protrusion of eyes, small fissure of eyes, wide nasal root, limited opening of mouth, slightly high palatal arch, special posture, cryptorchid, hypospadias, and high muscle tone of limbs.Magnetic resonance imaging of the brain suggested possible agenesis of corpus callosum.Genetic testing showed complex heterozygous variations in the KLHL7 gene, and the two mutation sites have not been previously reported.A case of PERCHING syndrome caused by the KLHL7 gene mutation in China was reported for the first time, which provided new ideas for the diagnosis and treatment of children with PERCHING syndrome and reliable genetic evidence for family reproduction.

Efficacy and safety of Changsulin ? compared with Lantus ? in type 2 diabetes: a phase Ⅲ multicenter, randomized, open-label, parallel, controlled clinical trial / 中华内科杂志

Objective:To compare the efficacy and safety of Changsulin ? with Lantus ? in treating patients with type 2 diabetes mellitus (T2DM). Methods:This was a phase Ⅲ, multicenter, randomized, open-label, parallel-group, active-controlled clinical trial. A total of 578 participants with T2DM inadequately controlled on oral hypoglycemic agents were randomized 3∶1 to Changsulin ? or Lantus ? treatment for 24 weeks. The efficacy measures included changes in glycosylated hemoglobin (HbA1c), fasting plasma glucose (FPG), 2h postprandial plasma glucose (2hPG), 8-point self-monitoring of blood glucose (SMBG) profiles from baseline, and proportions of subjects achieving targets of HbA1c and FPG. The safety outcomes included rates of hypoglycemia, adverse events (AEs) and anti-insulin glargine antibody. Results:After 24 weeks of treatment, mean HbAlc decreased 1.16% and 1.25%, FPG decreased 3.05 mmol/L and 2.90 mmol/L, 2hPG decreased 2.49 mmol/L and 2.38 mmol/L in Changsulin ? and in Lantus ?, respectively. No significant differences could be viewed in above parameters between the two groups (all P>0.05). There were also no significant differences between Changsulin ? and Lantus ? in 8-point SMBG profiles from baseline and proportions of subjects achieving the targets of HbA1c and FPG (all P>0.05). The rates of total hypoglycemia (38.00% and 39.01% for Changsulin ? and Lantus ?, respectively) and nocturnal hypoglycemia (17.25% and 16.31% for Changsulin ? and Lantus ?, respectively) were similar between the two groups (all P>0.05). Most of the hypoglycemia events were asymptomatic, and no severe hypoglycemia were found in both groups. No differences were observed in rates of AEs (61.77% vs.52.48%) and anti-insulin glargine antibody (after 24 weeks of treatment, 6.91% vs.3.65%) between the two groups (all P>0.05). Conclusions:Changsulin ? shows similar efficacy and safety profiles compared with Lantus ? and Changsulin ? treatment was well tolerated in patients with T2DM.

Analysis of 2 cases of diabetic ketoacidosis / 中华内分泌代谢杂志

Diabetic ketoacidosis ( DKA ) is one of the common endocrine emergencies. With the development and applications of new drugs, the inducing causes of DKA become more and more complicated. We as clinicians should quickly and accurately evaluute the severity of DKA, and administrate reasonable rehydration and hypoglycemic treatment. What we should do better is searching the causes of DKA and help patients reasonably avoid its occurrence. In this article, two cases from clinical practice are analyzed.

Congenital pyloric atresia in neonates / 中华普通外科杂志

Objective To investigate the diagnosis,surgical therapy of congenital pyloric atresia in neonates.Method Six congenital pyloric atresia neonates in Children's Hospital of Nanjing Medical University were admitted,including 4 cases of complete atresia with pyloric diaphragm,1 case of incomplete atrsia with a foraminula in the pyloric diaphragm and 1 case of pyloric atresia with solid segment.Three cases were associated with epidermolysis bullosa,multiple intestinal atresia and annular pancreas respectively.Results The main presenting symptoms were nonbilious vomiting,and 5 cases of abdominal X-ray plain film showed a large single gastric air-bubble and no gas distally.Ultrasonography and upper gastrointestinal radiography showed complete gastric outlet obstruction,and in 1 case postbulbar obstruction.Neonates with pyloric diaphragm underwent diaphragm excision and pyloroplasty,and that with solid segment did an extended pyloroplasty.The one complicating intestinal atresia was abandened surgery.Five cases were followed up,and doing well with complete recovery.Conclusion Abdominal X-ray plain film,Doppler ultrasonography and upper gastrointestinal radiography help establish the diagnosis of neonatal congenital pyloric atresia.Surgery is the therapy of choice and the prognosis is very good.

Application of bowel plication combined with early enteral nutrition in the enhanced recovery after surgery for neonates with jejunal atresia / 中华胃肠外科杂志

<p><b>OBJECTIVE</b>To evaluate the efficacy of bowel plication combined with early enteral nutrition (EEN) in the enhanced recovery after surgery(ERAS) of jejunal atresia (JA) neonates.</p><p><b>METHODS</b>Between January 2005 and January 2014, 58 neonates with JA underwent surgical treatment in Children's Hospital of Nanjing Medical University. Their clinical data, including operation procedures, ages, birth weight, concomitant diseases, age at surgery, hospital stay, total parenteral nutrition (TPN), postoperative intestinal function recovery (the time to the first oral feeding and the time to oral feeding volume reaching 150 ml·kg·d), complications and reoperation, were retrospectively analyzed.</p><p><b>RESULTS</b>According to the surgical procedures, the 58 neonates were divided into three groups: control group(18 cases, undergoing atretic segments resection and primary anastomosis), bowel plication group(19 cases, undergoing bowel plication after atretic segments resection and primary anastomosis) and bowel plication combined with EEN group (21 cases, undergoing bowel plication combined with EEN). No significant differences of ages, birth weight, age at operation, and concomitant diseases were found among 3 groups (all P>0.05). The time of hospital stay, the time to the first oral feeding, the time to oral feeding volume reaching 150 ml·kg·d, and the time of TPN in bowel plication group were significantly shorter than those of control group [(19.3±4.4) d vs. (22.7±3.1) d, t=2.696, P=0.011; (9.8±3.3) d vs. (12.5±3.0) d, t=2.630, P=0.013; (18.5±4.1) d vs. (21.5±2.5) d, t=2.726, P=0.011; (13.1±2.9) d vs. (15.0±2.3) d, t=2.219, P=0.033]. However, above parameters of bowel plication combined with EEN group were significantly shorter than those of bowel plication group [(15.3±3.5) d vs. (19.3±4.4), t=4.120, P=0.003; (7.7±2.2) d vs. (9.8±3.3) d, t=2.428, P=0.020; (14.8±2.5) d vs. (18.5±4.1) d, t=3.752, P=0.001; (9.5±3.0) vs. (13.1±2.9) d, t=4.370, P=0.000].</p><p><b>CONCLUSION</b>The bowel plication combined with EEN contributes to the early use of intestinal function, shorten the time to the first oral feeding, and reduces the use of TPN, which can improve the recovery of jejunal atresia neonates.</p>

Efficacy of parathyroid hormone (1-34) and elcatonin in postmenopausal women with osteoporosis：A randomized and controlled trial for 18 months / 中华内分泌代谢杂志

Objective Recombinant human parathyroid hormone(1-34) [ rhPTH(1-34)] is the unique anabolic substance acting on the skeleton. The efficacy and safety of long-term administration of rhPTH(1-34) in Chinese postmenopausal women have not been evaluated. This study compared the clinical efficacy and safety of rhPTH(1-34) with elcatonin for treating postmenopausal women with osteoporosis in 11 urban areas of China. Methods A total of453 postmenopausal women with osteoporosis were enrolled in an 18-month, multi-center, randomized, controlled study. They were randomized to receive either rhPTH(1-34) 20 μg(200 U) daily for 18 months, or elcatonin 20 U weekly for 12 months. Lumbar spine ( L1-4) and femoral neck bone mineral density (BMD), fracture rate, back pain as well as biochemical markers of bone turnover ( serum bone-specific alkaline phosphatase was measured by radioimmunoassay; C-telopeptide/ creatinine ( CTX/ Cr) measured by quantitative sandwich enzyme-linked immunosorbent assay) at 6, 12, and 18 months. Adverse events were recorded. Results rhPTH(1-34) increased lumbar BMD more significantly than that did by elcatonin at 6 months( M6), 12 months (M12), and 18 months(M18; 4. 3% vs 1. 94% , 6. 8% vs 2. 72% , 9. 51% vs 2. 86% , P<0. 01). There was only a small but significant increase of femoral neck BMD at M18(2. 64% , P<0. 01) in rhPTH(1-34) groups. There were greater increases in bone turnover markers in the rhPTH(1-34) group than in the elcatonin group at M6, M12, and M18[serum bone-specific alkaline phosphatase(BSAP) 93. 67% vs -3. 56% , 117. 78% vs -4. 12% , 49. 24% vs-5. 81% , P<0. 01; urinary CTX/ Cr 250% vs -29. 5% , 330% vs -41. 4% , 273 % vs -10. 6% , P<0. 01]. rhPTH (1-34) showed similar effect of pain relief as elcatonin. The incidence of clinical fractures was 5. 36% (6 / 112) in elcatonin group and 3. 23% ( 11 / 341 ) in rhPTH ( 1-34 ) group ( P = 0. 303 ). Both treatments were well tolerated. Hypercaluria(9. 38% ) and hypercalcemia(7. 04% ) in rhPTH(1-34) group was transient and caused no clinical symptoms. Pruritus(8. 21% vs 2. 68, P=0. 044) and redness of injection site(4. 40% vs 0, P=0. 024) were more frequent in rhPTH(1-34). Nausea / vomiting(16. 07% vs 6. 16% , P = 0. 001) and hot flushes(7. 14% vs 0. 59% , P<0. 001) were more common in elcatonin group. Conclusion rhPTH(1-34) treatment was associated with greater increases in lumbar spine BMD and bone formation markers. It could increase femoral BMD after 18 months treatment. rhPTH(1-34) could ameliorate back pain effectively. The results of the present study indicate that rhPTH(1-34) is an effective, and safe agent in treating postmenopausal women with osteoporosis.

Fast track surgery combined with laparoscopy in the treatment of infant Hirschsprung disease / 中华胃肠外科杂志

<p><b>OBJECTIVE</b>To evaluate the safety and efficacy of fast track surgery (FTS) combined with laparoscopy in the treatment of infant Hirschsprung disease.</p><p><b>METHODS</b>Clinical data of 72 infants with Hirschsprung disease undergoing elective pull-through surgery from June 2010 to June 2013 were retrospectively summarized. The patients were divided into two groups: fast track surgery combined with laparoscopy group (FTS group, n=33) and laparoscopic surgery with traditional management perioperatively (control group, n=39). Postoperative intestinal function recovery, hospital stay, cost of hospitalization, complications were compared and postoperative recovery was followed-up for four weeks.</p><p><b>RESULTS</b>There were no significant differences in intraoperative blood loss and operative time between FTS and control group (both P>0.05). The recovery of bowel movement was earlier in the FTS group but the difference was not statistically significant (P=0.078). The hospital stay was shorter [(10 ± 2) d vs. (14 ± 4) d] and cost of hospitalization was lower [(15 316 ± 2273) Yuan vs. (18 641 ± 3082) Yuan] in FTS group than those in control group(P<0.01). Postoperative complications and recovery conditions during 4 weeks follow-up were similar between the two groups.</p><p><b>CONCLUSION</b>Fast track surgery combined with laparoscopy in the treatment of infant Hirschsprung disease is safe and effective.</p>

Relationship between blood glucose fluctuations and the prognosis of thrombolytic therapy in patients with acute cerebral infarction and type 2 diabetes mellitus / 中国脑血管病杂志

Objective To study the effect of blood glucose fluctuations on the prognosis of thrombolytic therapy in patients with acute cerebral infarction. Methods A total of 83 consecutive patients with acute cerebral infarction admitted to the Department of Neurology,General Hospital of Beijing Military Command ( the Affiliated 81st Brain Hospital ) from January to November 2013 were enrolled retrospectively. They were divided into cerebral infarction with type 2 diabetes mellitus group (DMCI group,n=47) and cerebral infarction without type 2 diabetes mellitus group (NDMCI group,n=36) according to whether they had diabetes mellitus or not and the results of oral glucose tolerance test at day 7 after admission. Continuous glucose monitoring system ( CGMS) was used to monitor glucose for 72 hours at day 7 after admission. The mean blood glucose, standard deviation of blood glucose level, mean blood glucose fluctuation,and hemorrhagic transformation during the follow-up period,as well as vascular recanalization were observed and compared. At day 90,the modified Rankin scale (mRS) score was used to evaluate the prognosis of the patients. Results ( 1 ) Comparing the dynamic glucose parameters of the patients with acute cerebral infarction in both groups,the mean blood glucose,standard deviation of blood glucose level,mean blood glucose fluctuations at 24 hours in patients of the DMCI group were higher than those of the NDMCI group ( 8 . 3 ± 2 . 6 mmol/L vs. 5 . 8 ± 1 . 3 mmol/L,2. 1 ± 0. 4 mmol/L vs. 1. 6 ± 0. 6 mmol/L,4. 3 ± 0. 8 mmol/L vs. 3. 6 ± 0. 5 mmol/L). There were significant differences (t=31. 419, 15.537,and 15. 372,respectively;all P<0. 01). (2) Four patients (8.5%) in the DMCI group had hemorrhagic transformation during the follow-up period,17 cases (36. 2%) had good recanalization,and 15 cases (31.9%) had good prognosis (the mRS score < 2 at day 90);1 patient (2.8%) in the NDMCI group had hemorrhagic transformation,21 patients (58. 3%) had good recanalization,and 21 cases (58. 3%) had good prognosis. There was significant difference between the recanalization after thrombolysis and the prognosis in patients of both groups (P<0. 05). Conclusion The great fluctuations of blood glucose in acute cerebral infarction patients with type 2 diabetes mellitus may be an important factor of affecting its prognosis of thrombolytic therapy.