Objective To identify mutations in the OSMR gene in a pedigree with familial primary cutaneous amyloidosis (FPCA).Methods Clinical data were collected from a pedigree with FPCA.Peripheral blood samples were obtained from the proband,his 19 relatives,and 50 unrelated healthy human controls.Genomic DNA was extracted from these blood samples,and subjected to PCR for the amplification of 18 encoding exons and their flanking sequences of the OSMR gene followed by DNA sequencing.Results A heterozygous missense mutation c.2081C ＞ T,which leads to the substitution of proline by threonine at position 694,was detected in the OSMR gene of the proband and his affected relatives,but not in unaffected relatives or healthy controls.Conclusion The heterozygous mutation p.P694L in the OSMR gene may cause the clinical phenotype of FPCA in this family.

Objective To explore the mechanism underlying the poor prognosis in cerebral infarction (CI) patients with low T3 syndrome by comparing the NIHSS scores in these patients with or without low T3 syndrome.Methods One hundred and sixty-two patients with CI,admitted to our hospital from January 2010 to December 2012,were chosen in our study; the levels of thyroid hormones,including triiodothyronine (T3),four iodine thyronine (T4),thyroid stimulating hormone (TSH),free Triiodothyronine (iT3) and free four iodine thyronine (fT4),were measured by radioimmunoassay.CI lesions and TOAST distribution were determined by cranial MRI,magnetic resonance angiography (MRA) or CT angiography (CTA),and carotid ultrasonography.NIHSS scores at the worst in cerebral infarction inpatients were detected.Results In the 162 patients with CI,29 patients (17.90％) were combined with low T3 symptom and 20 had fT3 level lower than the lowest normal level (2.63 pmol/L); and T4,fT4 and TSH levels were within normal limits.T3,fr3 and TSH levels in patients with low T3 symptom were significantly lower than those of patients without low T3 symptom (P＜0.05).The distribution of TOAST showed no significant difference between patients with low T3 symptom and patients without low T3 symptom (P＞0.05).In patients with large artery atherosclerosis-internal carotid artery,the NIHSS scores at the worst in patients with low T3 level were significantly higher as compared with those in patients with normal T3 levels (P＜0.05).Conclusion The neurologic impairment is more severe in large artery atherosclerosis-intemal carotid artery patients with low T3 level than those without low T3 level,which might be responsible for the poor prognosis of the illness with low T3 syndrome.

Objective To investigate the effectiveness and safety of argatroban combined with an-tiplatelet therapy in patients with acute mild-to-moderate atherosclerotic cerebral infarction within 72 hours after symptom onset.Methods A total of 452 patients with large atherosclerotic cerebral infarc-tion were enrolled and divided into two groups.The combined therapy group(n=286)received ar-gatroban combined with antiplatelet therapy,while the control group(n=166)received antiplatelet therapy alone.The National Institutes of Health Stroke Scale(NIHSS)score,modified Rankin Scale(mRS)score,early neurological deterioration(END),and occurrence of bleeding events were com-pared between the two groups using a Logistic regression model.Results Statistically significant differences were observed in age,smoking history,time from stroke onset to admission,low-density lipo-protein,and estimated glomerular filtration rate(eGFR)levels between the two groups(P＜0.05).No significant differences were found in infarction location,responsible artery,and atherosclerotic subtype between the combined therapy and control groups(P＞0.05).Among patients with atheroscleroticcerebral infarction,the proportion of patients with an mRS score of 0 to 2 at 90 days after combined therapy of argatrobanwas 85.3％,and was 74.5％in the control group(P＜0.05).In patients with an NIHSS score ≥3,the proportion of patients with an mRS score of 0 to 2 at 90 days in the combined therapy group was 19.3％,which was significantly lower than 60.8％in the control group(P＜0.05).For anterior circulation responsible artery occlusion,the proportion of patients with an mRS score of 0 to 2 at 90 days in the combined therapy group was 82.1％,and 67.2％in the control group(P＜0.05).Among atherosclerotic subtypes,the proportion of patients with penetrating ar-tery occlusion and an mRS score of 0 to 2 at 90 days was significantly higher in the combined therapy group compared to the control group(P＜0.05).Conclusion Argatroban combined with anti-platelet therapy can improve neurological outcomes in patients with acute mild-to-moderate athero-sclerotic ischemic stroke without increasing the risk of bleeding.The combined therapy offers more pronounced benefits in patients with anterior circulation ischemia and penetrating artery occlusion.

Objective To investigate the effectiveness and safety of argatroban combined with an-tiplatelet therapy in patients with acute mild-to-moderate atherosclerotic cerebral infarction within 72 hours after symptom onset.Methods A total of 452 patients with large atherosclerotic cerebral infarc-tion were enrolled and divided into two groups.The combined therapy group(n=286)received ar-gatroban combined with antiplatelet therapy,while the control group(n=166)received antiplatelet therapy alone.The National Institutes of Health Stroke Scale(NIHSS)score,modified Rankin Scale(mRS)score,early neurological deterioration(END),and occurrence of bleeding events were com-pared between the two groups using a Logistic regression model.Results Statistically significant differences were observed in age,smoking history,time from stroke onset to admission,low-density lipo-protein,and estimated glomerular filtration rate(eGFR)levels between the two groups(P＜0.05).No significant differences were found in infarction location,responsible artery,and atherosclerotic subtype between the combined therapy and control groups(P＞0.05).Among patients with atheroscleroticcerebral infarction,the proportion of patients with an mRS score of 0 to 2 at 90 days after combined therapy of argatrobanwas 85.3％,and was 74.5％in the control group(P＜0.05).In patients with an NIHSS score ≥3,the proportion of patients with an mRS score of 0 to 2 at 90 days in the combined therapy group was 19.3％,which was significantly lower than 60.8％in the control group(P＜0.05).For anterior circulation responsible artery occlusion,the proportion of patients with an mRS score of 0 to 2 at 90 days in the combined therapy group was 82.1％,and 67.2％in the control group(P＜0.05).Among atherosclerotic subtypes,the proportion of patients with penetrating ar-tery occlusion and an mRS score of 0 to 2 at 90 days was significantly higher in the combined therapy group compared to the control group(P＜0.05).Conclusion Argatroban combined with anti-platelet therapy can improve neurological outcomes in patients with acute mild-to-moderate athero-sclerotic ischemic stroke without increasing the risk of bleeding.The combined therapy offers more pronounced benefits in patients with anterior circulation ischemia and penetrating artery occlusion.

OBJECTIVETo review the application of thoracoscopic repair for treatment of congenital diaphragmatic hernia in neonates, so as to improve the cure rate.

METHODSClinical data of 47 neonates with congenital diaphragmatic hernia receiving thoracoscopic repair from June 2012 to June 2017 were reviewed. The admission age, gestational age, birth weight, timing of diagnosis, hernia location, clinical manifestation, surgical timing, surgical method, operation time, postoperative mechanical ventilation time of patients were analyzed.

RESULTSThere were 42 cases of left diaphragmatic hernia and 5 cases of right diaphragmatic hernia. Thirteen cases were diagnosed prenatally. Primary diaphragmatic repair was successfully accomplished under thoracoscope in 45 neonates without perioperative complications, while 2 patients were converted to open surgery. The average operation time was (63±13) min (42-150 min), the average blood loss was (3.0±1.7) mL (1.0-9.0 mL), and the average postoperative mechanical ventilation time was (3.9±1.4) d (2.0-11.0 d). Two patients died and the treatment was withdrawn in 3 patients with an overall cure rate of 89.4% (42/47).

CONCLUSIONSThoracoscopic repair is effective and can be used as first-choice treatment of diaphragmatic hernia in neonates.

Ischemic stroke is a severe disorder resulting from acute cerebral thrombosis. Here we demonstrated that post-ischemic treatment with ciclopirox olamine (CPX), a potent antifungal clinical drug, alleviated brain infarction, neurological deficits and brain edema in a classic rat model of ischemic stroke. Single dose post-ischemic administration of CPX provided a long-lasting neuroprotective effect, which can be further enhanced by multiple doses administration of CPX. CPX also effectively reversed ischemia-induced neuronal loss, glial activation as well as blood-brain barrier (BBB) damage. Employing quantitative phosphoproteomic analysis, 130 phosphosites in 122 proteins were identified to be significantly regulated by CPX treatment in oxygen glucose deprivation (OGD)-exposed SH-SY5Y cells, which revealed that phosphokinases and cell cycle-related phosphoproteins were largely influenced. Subsequently, we demonstrated that CPX markedly enhanced the AKT (protein kinase B, PKB/AKT) and GSK3 (glycogen synthase kinase 3) phosphorylation in OGD-exposed SH-SY5Y cells, and regulated the cell cycle progression and nitric oxide (NO) release in lipopolysaccharide (LPS)-induced BV-2 cells, which may contribute to its ameliorative effects against ischemia-associated neuronal death and microglial inflammation. Our study suggests that CPX could be a promising compound to reduce multiple ischemic injuries; however, further studies will be needed to clarify the molecular mechanisms involved.