Objective To identify the pathogenic variants in 110 patients with essential tremor(ET).Methods Clinical data and peripheral blood samples of ET patients were collected from the Department of Neurology of Peking Union Medical College Hospital and then the genomic DNA was extracted.Dynamic mutation detection of NOTCH2NLC was performed in patients with essential tremor by triplet repeat primed PCR(TP-PCR).Since ET is as-sociated with multiple mechanisms of neuro-degeneration,the next generation sequencing(NGS)panel targeting neu-rodegenerative associating genes were performed to check pathogenic variants in additional genes.Results A total of 110 ET patients and 187 matched control individuals were recruited.The age of onset in the current ET group was(36.30±17.64)years,and 74.8%patients had a family history.No abnormal trinucleotide repeat expansion in NOTCH2NLC was identified.The repeat number of(GGC)n lied within normal ranges between 10－47(average 18.6±5.4).Variants burden analysis showed association of ET with PLA2G6.Three rare variants in four patients in PLA2G6 were identified with unknown significance.Conclusions Dynamic mutations of NOTCH2NLC are uncom-mon in ET patients and that suggests need of more researches for further exploring the genetic mechanism of ET.

Objective:To explore the effects of mechanical tension on the formation of hypertrophic scars in rabbit ears and transforming growth factor-β 1 (TGF-β 1)/Smad signaling pathway. Methods:The experimental research method was adopted. Six New Zealand white rabbits, male or female, aged 3-5 months were used and 5 full-thickness skin defect wounds were made on the ventral surface of each rabbit ear. The appearance of all rabbit ear wounds was observed on post surgery day (PSD) 0 (immediately), 7, 14, 21, and 28. On PSD 28, the scar formation rate was calculated. Three mature scars in the left ear of each rabbit were included in tension group and the arch was continuously expanded with a spiral expander. Three mature scars in the right ear of each rabbit were included in sham tension group and only the spiral expander was sutured without expansion. There were 18 scars in each group. After mechanical tension treatment (hereinafter referred to as treatment) for 40 days, the color and texture of scar tissue in the two groups were observed. On treatment day 40, the scar elevation index (SEI) was observed and calculated; the histology was observed after hematoxylin eosin staining, and the collagen morphology was observed after Masson staining; mRNA expressions of TGF-β 1, Smad3, collagen Ⅰ, collagen Ⅲ, and α-smooth muscle actin (α-SMA) in scar tissue were detected by real-time fluorescence quantitative reverse transcription polymerase chain reaction; and the protein expressions of TGF-β 1, collagen Ⅰ, collagen Ⅲ, and α-SMA, and phosphorylation level of Smad3 in scar tissue were detected by Western blotting. The number of samples of each group in the experiments was 3. Data were statistically analyzed with independent sample t test. Results:On PSD 0, 5 fresh wounds were formed on all the rabbit ears; on PSD 7, the wounds were scabbed; on PSD 14, most of the wounds were epithelialized; on PSD 21, all the wounds were epithelialized; on PSD 28, obvious hypertrophic scars were formed. The scar formation rate was 75% (45/60) on PSD 28. On treatment day 40, the scar tissue of rabbit ears in tension group was more prominent than that in sham tension group, the scar tissue was harder and the color was more ruddy; the SEI of the scar tissue of rabbit ears in tension group (2.02±0.08) was significantly higher than 1.70±0.08 in sham tension group ( t=5.07, P<0.01). On treatment day 40, compared with those in sham tension group, the stratum corneum of scar tissue became thicker, and a large number of new capillaries, inflammatory cells, and fibroblasts were observed in the dermis, and collagen was more disordered, with nodular or swirling distribution in the scar tissue of rabbit ears in tension group. On treatment day 40, the mRNA expressions of TGF-β 1, Smad3, collagen Ⅰ, collagen Ⅲ, and α-SMA in the scar tissue of rabbit ears in tension group were respectively 1.81±0.25, 5.71±0.82, 7.86±0.56, 4.35±0.28, and 5.89±0.47, which were significantly higher than 1.00±0.08, 1.00±0.12, 1.00±0.13, 1.00±0.14, and 1.00±0.14 in sham tension group (with t values of 5.36, 9.82, 20.60, 18.26, and 17.13, respectively, all P<0.01); the protein expressions of TGF-β 1, collagen Ⅰ, collagen Ⅲ, and α-SMA, and phosphorylation level of Smad3 in the scar tissue of rabbit ears in tension group were respectively 0.865±0.050, 0.895±0.042, 0.972±0.027, 1.012±0.057, and 0.968±0.087, which were significantly higher than 0.657±0.050, 0.271±0.029, 0.631±0.027, 0.418±0.023, and 0.511±0.035 in sham tension group (with t values of 5.08, 21.27, 15.55, 16.70, and 8.40, respectively, all P<0.01). Conclusions:Mechanical tension can inhibit the regression of hypertrophic scars in rabbit ears through stimulating the hyperplasia of scars, inhibiting the normal arrangement of dermal collagen fibers, and intensifying the deposition of collagen fibers, and the mechanism may be related to the activation of TGF-β 1/Smad signaling pathway by mechanical tension.

Objective:This paper introduces four surgical methods and effects of one-stage repair for defect in nasal wing because of tumor resection and other reasons.Methods:Totally 41 cases of nasal wing defects caused by various reasons admitted to the First Affiliated Hospital of Anhui Medical University from June 2015 to June 2018 were analyzed retrospectively, including 22 male patients and 19 female patients, age ranged from 15 to 93 years, with an average of 45 years. All patients were treated and repaired with the nasolabial horn-shaped perforated pedicle flaps(20 cases), the lateral nasal artery horn-shaped perforated pedicle flaps(10 cases), the nasolabial sulcus island flaps based on nasal basal perforator vessel(6 cases) and the supralabial-nasolabial horn-shaped perforated pedicle flaps(5 cases).Results:All the flaps that were used in 41 patients were transplanted successfully, size ranged from 0.5 cm×1.5 cm-4.0 cm×4.0 cm. The defects on the nasal wing were completely repaired, and the wounds healed in one stage. All patients underwent postoperative follow-up for a period of 4 months to 1 year. Postoperative results indicate that the patients’ alae shapes of the nose were good, the functions were not significantly affected, and no recurrences were found in the cancer cases.Conclusions:The nasolabial horn-shaped perforated pedicle flap can be used for lager defects of the the nasal wing, and the lateral nasal artery horn-shaped perforated pedicle flap can be used for the minor defects. In addition, the nasolabial sulcus island flap based on nasal basal perforator vessel can be used when the facial skin tension is greater. Finally, the supralabial-nasolabial horn-shaped perforated pedicle flap is suitable when the defect is near the nasolabial sulcus. All patients can obtain better aesthetic results when the flap is selected according to the actual situation and reasonably.

Objective:This paper introduces four surgical methods and effects of one-stage repair for defect in nasal wing because of tumor resection and other reasons.Methods:Totally 41 cases of nasal wing defects caused by various reasons admitted to the First Affiliated Hospital of Anhui Medical University from June 2015 to June 2018 were analyzed retrospectively, including 22 male patients and 19 female patients, age ranged from 15 to 93 years, with an average of 45 years. All patients were treated and repaired with the nasolabial horn-shaped perforated pedicle flaps(20 cases), the lateral nasal artery horn-shaped perforated pedicle flaps(10 cases), the nasolabial sulcus island flaps based on nasal basal perforator vessel(6 cases) and the supralabial-nasolabial horn-shaped perforated pedicle flaps(5 cases).Results:All the flaps that were used in 41 patients were transplanted successfully, size ranged from 0.5 cm×1.5 cm-4.0 cm×4.0 cm. The defects on the nasal wing were completely repaired, and the wounds healed in one stage. All patients underwent postoperative follow-up for a period of 4 months to 1 year. Postoperative results indicate that the patients’ alae shapes of the nose were good, the functions were not significantly affected, and no recurrences were found in the cancer cases.Conclusions:The nasolabial horn-shaped perforated pedicle flap can be used for lager defects of the the nasal wing, and the lateral nasal artery horn-shaped perforated pedicle flap can be used for the minor defects. In addition, the nasolabial sulcus island flap based on nasal basal perforator vessel can be used when the facial skin tension is greater. Finally, the supralabial-nasolabial horn-shaped perforated pedicle flap is suitable when the defect is near the nasolabial sulcus. All patients can obtain better aesthetic results when the flap is selected according to the actual situation and reasonably.

Objective To assess the classification and characteristics of headaches using the International Classification of Headache Disorders,3rd edition (beta version) criteria in a headache outpatient clinic.Methods In this prospective cross-sectional study,all consecutive patients presenting with headache to a headache outpatient clinic of Peking Union Medical College Hospital between April 1 st,2014 and February 28th,2015 were included.Results The average age of 593 patients was (42.I ± 15.6) years with female-male ratio 1.89∶ 1.Primary headaches were found in 483 (81.5％) patients,of which migraine and tension-type headache were found in 264 (44.5％) patients and 168 (28.3％) patients respectively.Chronic daily headache and new headache were found in 158 (26.6％) patients and 130 (21.9％) patients,while cough headache and thunderclap headache were found in 9 (1.5 ％) patients and 5 (0.8％) patients respectively.Patients with migraine were more likely complicated with medicationoveruse headache than patients with tension-type headache (x2 =4.21,P =0.032).Patients with tensiontype headache were more likely complicated with chronic daily headache than patients with migraine (x2 =18.92,P =0.000).Conclusions In this headache outpatient clinic,most patients were primary headaches.Chronic daily headache and new headache were common,while cough headache and thunderclap headache were uncommon.These headache syndromes should be paid attention to identify the possible underlying malignant etiologies.

Objective To summarize the clinical and radiological features of DYT6 dystonia with mutations based on the data of our patient cohort as well as the report by others.Methods Clinical data of the 11 patients with DYT6 dystonia in Peking Union Medical College Hospital from June 2009 to May 2012 were retrospectively reviewed and analyzed.Clinical data included gender,onset age,initiative symptom of onset,the sites of involvemet,family history,etc.All patients were examined for brain MRI scan,6 patients were examined for DTI.Results Of the eleven gene-confirmed DYT6 dystonia patients,7 were male and 4 were female,with an onset-age ranged from 5 years to 36 years,the mean age of onset was 19.4years.Eight patients had a family history.There were 10 patients with early onset dystonia and only 1 patient with late onset dystonia.The most common site of onset was the neck (7/11),and the next was the right arm,1-5 body areas were affected at the time of neurological assessment,the average amount was 2.8,and the most frequently affected anatomical site was the neck (10/11),next came lower face,jaw and tongue.Among all the patients,6 patients presented with segmental dystonia,4 patients presented with focal dystonia,only 1 patient presented with generalized dystonia.All the patients with thanatos-associated protein domain-containing apoptosis-associated protein (THAP) domain affected had a family history,but the patients with the same mutant gene varied with clinical manifestation.Only 1 patients with non-THAP domain affected had a family history,but in most families,there were adult asymptomatic mutant gene carriers.Mutations within the THAP domain were associated with an earlier age of onset than non-THAP domain (17.3 and 21.8 years old).Routine MRI of all patients were normal and DTI of 6 patients showed that fractional anisotropy values in the bilateral sensorimotor area in DYT6 dystonia were reduced.A detailed description of a patient with TOR1A and THAP1 gene mutations was given.Conclusions Early onset dystonia is the main manifestation in patients with DYT6 dystonia in China.The most common site of onset is the neck,and the next is the right arm.The most frequently affected anatomical site is the neck,next come lower face,jaw and tongue.Laryngeal dystonia is absent.The patients with same mutant gene show high heterogeneity in the clinical manifestations,mutations within the THAP domain of THAP1 tend to manifest at an earlier age and higher penetration than mutations localized to non-THAP domain.Reduction of fractional anisotropy values indicates that the axonal integrity and coherence in the region of sensorimotor area is damaged in DYT6 dystonia.

Objective To evaluate clinical risk factors for Meropenem resistant Pseudomonas aeruginosa (MRPA) infection in surgical intensive care unit. Methods Retrospective case-control study was designed. Resultant MRPA and Meropenem sensitive Pseudomonas aeruginosa ( MSPA) cases were paired with respective control group. Candidate clinical factors including gender, malignancy, duration of ICU stay, length of operation, volume of blood loss, transfusion, kind of incision ( clean/contaminated/ infected) , and previous antibiotics history were examined by bivariates and multivariate regression. Results Risk factors for MRPA infection included duration of ICU stay before infection (odds ratio [ OR] = 2. 234, 95% confidence interval [ CI] = 1. 710 - 2. 918), administration of third generation cephalosporins (OR = 2. 885, 95% CI = 1. 133 - 7. 345) and Imipenem ( OR = 1. 238, 95% CI = 1. 469 - 35. 659). A long ICU stay (OR = 2. 284, 95% CI = 1. 772 - 2. 945), malignancy (OR =4.796, 95%CI = 2.001 -11.491), previous medication of quinolones ( OR = 3.563, 95% CI = 1.499 - 8.468) and third generation cephalosporins (OR = 3. 796, 95% CI = 1. 543 - 9. 343) were associated with MSPA infection. Conclusion MRPA infection was affected by multiple clinical factors. Short ICU stay, restrict use of third generation cephalosporins and Imipenem may help to prevent MRPA infection.

Objective:Express the recombinant human FGFR1 in order to screen the FGFs.Methods:A cDNA fragment encoding human fibroblast growth factor receptor 1(FGFR1) was isolated by RT PCR from human lung fibroblasts,and then cloned into pCR TM II plasmid and pFastBac1 donor plasmid.Through transposition,recombinant bacmid FGFR1 DNA was formed and was then transfected into Sf9 insect cells to produce recombinant Baculovirus.Sf9 insect cell were infected with recombinant Baculovirus.The harvested culture supernatant was subjected to Western Blot and ELISA analysis.Results:The size of FGFR1 cDNA fragment is 2 100 bp.The MW of expressed recombinant FGFR1 was 78 kD.ELISA showed that human recombinant FGFR1 was expressed on the membrane of insect cell Sf9.Conclusion:The recombinant human FGFR1 can be expressed on the membrane of insect cell Sf9 effectively.