Objective:To investigate the clinical and gene variant characteristics of PCDH19 gene related epilepsy, and improve the ability of clinicians in early disease identification. Methods:The clinical data of 3 PCDH19 gene related epilepsy patients admitted to Children′s Hospital Affiliated to Zhengzhou University from October 2018 to August 2023 diagnosed by gene detection were reviewed and analyzed. Results:All the patients are female, and the onset age of seizure ranged in their infancy. Seizures in clusters and fever sensitivity were observed in all patients, and were very hard to control by single-drug treatment. Proband 1 was seizure-free after 2 kinds of anti-epileptic drug treatment, but with mild degree of intellectual disability. Proband 2 had refractory epilepsy with severe degree of intellectual disability. Proband 3 was seizure-free after 2 kinds of anti-epileptic drug treatment and without intellectual disability. In the first family, the proband carried heterozygous c.369C>G variant in the PCDH19 gene which was identified as de novo after parental validation. In the second family, the proband carried c.1652T>A variant inherited from her mother. In the third family, the proband carried c.278G>A variant inherited from her father. The 3 mutations had not been reported in the Human Gene Mutation Database. Conclusions:PCDH19 gene related epilepsy is one special kind of X-linked inherited epilepsy syndrome characterized by seizures in clusters and sensitivity to fever. And gene detection can help with early diagnosis and make rational clinical strategies in time. The variants c.369C>G, c.1652T>A and c.278G>A have enriched the gene variant spectrum of PCDH19.

Objective:To investigate the clinical effect of free posterior tibial artery perforator flap in repair of forefoot soft tissue defect.Methods:From January 2017 to January 2021, a retrospective study was conducted on 13 patients with forefoot soft tissue defect, metatarsal head exposed, and forefoot transverse arch integrity, including 9 males and 4 females. The age was (40.0±13.0) years old. Cause of injury: 8 cases of traffic accident injury, 5 cases of heavy object smashing injury. Seven cases had forefoot skin defect and toe damage, and 6 cases had forefoot skin avulsion injury, open toe fracture with tendon, blood vessel and nerve injury. The wound area was 4.5 cm×3.0 cm-8.0 cm×6.0 cm. VSD treatment was performed in the first stage, and free posterior tibial artery perforator flap was used for the second stage. The flap area was 5.5 cm×4.0 cm-9.0 cm×7.0 cm. Outpatient reviews scheduled at 1, 2, 3, and 6 months after surgery, through outpatient clinic, telephone or WeChat. The flaps were evaluated according to appearance, texture, sensory recovery, and the American Orthopaedic Foot and Ankle Society (AOFAS) ankle-hind foot function scoring system.Results:All 13 flaps survived. The follow-up lasted for 6 to 24 months. The feet were in good shape, walking with weight beries, and the flaps had satisfactory appearance without wear and tear. Five cases were S 3, 6 were S 2, and 2 were S 1. According to AOFAS ankle-hindfoot function score, 4 had excellent scores, 7 were in good, and 2 in fair. Conclusion:The free posterior tibial artery perforator flap has relatively constant perforators, and the pedicle of the middle and upper perforators is longer, and the flap can build part of the sensation. Posterior artery perforator flap is a good flat for repairing the soft tissue defects of the metatarsal head of the forefoot.

Objective:To summarise the clinical experience in replantation of the severed auricle distal to helix with microsurgical technique.Methods:From December 2018 to October 2021, a total of 5 patients with severed auricle injury were treated in the Department of Hand and Foot Surgery of The Affiliated Hospital of Qingdao University. They were 4 males and 1 female with 23-62 years old. After complete debridement of the auricular pinna, the retrograde replantation method was used. For arteries: a dorsal vein of the foot was used to bridge the posterior auricular artery. For veins: 2 patients had the veins directly anastomosed, 2 had the arteriovenous bridging to the posterior ear vein with dorsal foot veins, and the veins in 1 case were not anastomosed. Among the patients, 2 developed venous occlusions after severed auricle, and were treated with bloodletting through small incision at the skin margin. Two patients who received the arteriovenous of the severed auriclse achieved good blood supply. All the patients underwent treatments including anti-freezing, anti-spasm and anti-infection after the emergency surgery. The follow-ups were conducted regularly by telephone and by display photos via WeChat after surgery.Results:All 5 severed auricles were successfully replanted and survived. Postoperative follow-up ranged from 3 months to 2 years, with an average of 10 months. In the 2 cases with venous crisis, the auricles had mild atrophy. All auricles had no obvious pigmentation, and had the sensation recovery back to normal in 1 year after surgery.Conclusion:The pre-judgment of blood vessel quality and high-quality microsurgery skills are the necessary pre-conditions for auricle replantation. For replantation of severed auricle, it is the key to prevent vascular crisis by having the injured blood vessels thoroughly removed.

Objective:To analyze clinical characteristics of cutaneous delayed-type hypersensitivity caused by injection of equine tetanus antitoxin (TAT) or equine anti-tetanus immunoglobulin F (ab′) 2. Methods:Clinical data were collected from 181 outpatients or inpatients with cutaneous delayed-type hypersensitivity caused by injection of equine TAT or anti-tetanus immunoglobulin from 2008 to 2020, and retrospectively analyzed.Results:Before the injection of equine TAT or anti-tetanus immunoglobulin, skin test was negative in 171 (94.47%) of the 181 patients, and the 10 (5.53%) patients with positive skin test responses received desensitization injection. Among the 181 patients, there were 118 males and 63 females aged from 11 to 68 years, with the disease duration of 1 to 7 days and alatency period of 4 to 14 days. There was no significant difference in the clinical manifestations between the patients receiving injection of TAT (130 cases) and those receiving injection of equine anti-tetanus immunoglobulin (51 cases) . Urticaria-like rashes were the main clinical manifestation, and infiltrative erythema occurred at the injection site in 12 patients, of whom 10 developed generalized urticaria all over the body. Of the 181 patients, 163 (90.06%) presented with generalized skin rashes, and 56 (30.94%) had systemic symptoms such as chest tightness, fever, etc, of whom 15 (26.79%) had a history of allergies and 6 with severe symptoms had no history of allergies. Thirty-four (18.78%) patients had single or multiple laboratory abnormalities, such as increased white blood cell counts, elevated C-reactive protein level and urinary glucose, and presence of occult blood in urine. All cases responded well to the treatment with antihistamines and glucocorticoids. The treatment duration ranged from 3 to 10 days, and the outcome was good.Conclusion:TAT-or anti-tetanus immunoglobulin-induced cutaneous delayed-type hypersensitivity may still occur in patients with a negative skin test or after desensitization treatment, and mainly manifests as urticaria-like rashes.

To report a case of completely amputated ear beyond the anthelix with a severe cross section contusion. After the inspection and exclusion of coronavirus disease (COVID-19) as per prevention and control procedure, an ear replantation surgery was performed under strict protective measures. At 2 week of followed-up, the replanted auricle survived well and the left ear showed a good appearance.

To share the clinical experience of thoracoscopic unidirectional posterolateral basal segmentectomy via inferior pulmonary ligament. Methods    All the patients were in the healthy lateral position, with endoscopy holes in the 8th intercostal space of the middle axillary line and 2-3 cm operation holes in the 5th intercostal space of the front axillary line. Anatomical segmentectomy of the posterolateral basal vein, bronchus and artery was performed through the inferior pulmonary ligament upward in turn. The clinical data of this group were analyzed retrospectively. Results    From December 2015 to October 2018, 32 patients underwent thoracoscopic unidirectional posterolateral basal segmentectomy, including 8 males and 24 females, aged 13-71 (52.6±13.7) years. All patients successfully completed the operation, including 9 patients of left lower pulmonary posterolateral basal segmentectomy, 23 patients of right lower pulmonary posterolateral basal segmentectomy. The operation time was 80-295 (133.4 ±40.5) minutes, intraoperative bleeding volume was 20-300 (52.6±33.8) mL, drainage time was 2-14 (4.2±2.3) days, hospitalization time was 4-15 (6.9 ±2.4) days. No death occurred during hospitalization. Postoperative complications included atelectasis in 1 patient and persistent pulmonary leakage over 3 days (4 or 6 days respectively) in 2 patients , chylothorax in 1 patient. All of them recovered smoothly after non-operative treatments. Postoperative pathology showed that 29 patients of primary adenocarcinoma or atypical adenomatoid hyperplasia, including 5 patients of adenocarcinoma in situ, 9 patients of micro-invasive adenocarcinoma, 12 patients of invasive adenocarcinoma, 3 patients of atypical adenomatoid hyperplasia. One patient was of intestinal metastatic adenocarcinoma, 1 patient of inflammatory lesion and 1 patient of bronchiectasis. 3-21(9.6±4.6) lymph nodes were resected in the patients with primary pulmonary malignant tumors. And no metastasis was found. Conclusion    The operation of thoracoscopic unidirectional posterolateral basal segmentectomy via inferior pulmonary ligament is easy. There is no need to open intersegmental tissue. It can protect lung tissue better. The operative method is worthy of clinical promotion.

Related substances in pharmaceutical formulations are associated with their safety, efficacy and stability. However, there is no overall study already published on the assessment of related substances in the Compound Ketoconazole and Clobetasol Propionate Cream. In this work, a reliable HPLC-TOF-MS qua-litative method was developed for the analysis of related substances in this preparation with a quick and easy extraction procedure. Besides the active pharmaceutical ingredients, two compounds named ke-toconazole impurity B′ optical isomer and ketoconazole impurity E were identified. Furthermore, a new HPLC method for qualitative and quantitative assessment on related substances and degradation pro-ducts, which were found in the stability test, was established and validated. The single standard to determine multi-components method was applied in the quantitative analysis, which was an effective way for reducing cost and improving accuracy. This study can provide a creative idea for routine analysis of quality control of the Compound Ketoconazole and Clobetasol Propionate Cream.

BACKGROUND: An increasing number of publications are drawing attention to the associations between six common polymorphisms in HOX transcript anti-sense RNA (HOTAIR) and the risk of cancers, while these results have been controversial and inconsistent. We conducted an up-to-date meta-analysis to pool eligible studies and to further explore the possible relationships between HOTAIR polymorphisms (rs920778, rs7958904, rs12826786, 4,759,314, rs874945, and rs1899663) and cancer risk. METHODS: A systematic retrieval was conducted up to 1 July 2017 in the PubMed, Web of Science, and CNKI databases. Eighteen eligible publications including 45 case-control studies with 58,601subjects were enrolled for assessing the associations between the 6 polymorphisms in HOTAIR and cancer risk. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were analyzed to reveal the polymorphisms and susceptibility to cancer. All the statistical analyses were performed using STATA 11.0 software. RESULTS: The pooled analyses detected significant associations between the rs920778 polymorphism and increased susceptibility to cancer in recessive, dominant, allelic, homozygous, and heterozygous models. For the rs7958904 polymorphism, we obtained the polymorphism significantly decreased susceptibility to overall cancer risk among five genetic models rather than recessive and homozygous models. For the rs12826786 polymorphism, we identified it significantly increased susceptibility to cancer risk in all genetic models rather than heterozygous models. However, no significant association was found between the rs1899663, rs874945, and rs4759314 polymorphisms and susceptibility of cancer. CONCLUSION These findings of the meta-analysis suggest that HOTAIR polymorphism may contribute to cancer susceptibility.
Genetic Predisposition to Disease ; epidemiology ; Genotype ; Humans ; Neoplasms ; epidemiology ; genetics ; Odds Ratio ; Polymorphism, Single Nucleotide ; RNA, Long Noncoding ; genetics ; metabolism ; Risk Factors

OBJECTIVE: To retrospectively evaluate the short-term outcomes and safety of computed tomography (CT)-guided percutaneous microwave ablation (MWA) of solitary adrenal metastasis from lung cancer. MATERIALS AND METHODS: From May 2010 to April 2014, 31 patients with unilateral adrenal metastasis from lung cancer who were treated with CT-guided percutaneous MWA were enrolled. This study was conducted with approval from local Institutional Review Board. Clinical outcomes and complications of MWA were assessed. RESULTS: Their tumors ranged from 1.5 to 5.4 cm in diameter. After a median follow-up period of 11.1 months, primary efficacy rate was 90.3% (28/31). Local tumor progression was detected in 7 (22.6%) of 31 cases. Their median overall survival time was 12 months. The 1-year overall survival rate was 44.3%. Median local tumor progression-free survival time was 9 months. Local tumor progression-free survival rate was 77.4%. Of 36 MWA sessions, two (5.6%) had major complications (hypertensive crisis). CONCLUSION: CT-guided percutaneous MWA may be fairly safe and effective for treating solitary adrenal metastasis from lung cancer.
Disease-Free Survival ; Ethics Committees, Research ; Follow-Up Studies ; Humans ; Lung Neoplasms* ; Lung* ; Microwaves* ; Neoplasm Metastasis* ; Retrospective Studies* ; Survival Rate

Objective To explore the growth and developmental parameters and behavioral characteristics of rhesus monkeys during the first year of birth and to establish the background data.Methods A total of 18 (♂=11,♀=7 ) infant rhesus monkeys born from individually caged mothers and with known genetic background and postnatal days were monitored monthly for body weight, body height, head circumference, chest circumference, forelimb length, hind limb length, crown-rump length, tail length and anal-genital distance from postnatal day ( PND) 1 to 360, while hematology, blood chemistry and lymphocyte subsets were examined on PND 28, 175 and 360, and finger maze test was carried out on PND 208.Results The body weight showed linear growth with no significant difference between genders (P>0.05). Except for the anal-genital distance of male infants was significantly greater than that of female infants ( P<0.01 ) , no significant differences were observed between sexes in other morphological parameters.No significant differences of hematology were seen between genders (P >0.05).Compared with that at PND28, TP and BUN were significantly increased (P<0.01) while ALP decreased with no significant difference (P>0.05) at PND 175 and 360.Compared with that at PND28, CD4 +and CD4 +/CD8 +were significantly decreased ( P<0.01) while CD8+significantly increased ( P<0.01) at PND175 and 360.The number of sessions to solve task 2 in learning test was significantly greater than other tasks with females significantly less than males ( P<0.05) .The females had higher correct rate than males in the 2-day random memory test (P<0.05).Conclusions Body weight and morphological parameters show a linear growth.The PND.The RBC, HGB, LYMPH, TP, BUN, ALP, CD4 +, CD8 +and CD4 +/CD8+in hematology, blood chemistry and lymphocyte subsets show relevant changes to the growth and development of organs and systems in infants, which should be highly concerned in drug evaluation.The finger maze test indicates that female infants have better reversal learning and long-term memory than male infants.Background data and behavioral characteristics of infant rhesus monkeys during the first 12 months of birth are established in this study, which provide useful reference and support the evaluation of developmental and reproductive toxicity of drugs in rhesus monkeys.