Objective:To analyze clinical and genetic characteristics of a family with familial generalized lentiginosis, and to identify the causative gene mutation.Methods:Clinical characteristics and inherited pattern were analyzed in a family with familial generalized lentiginosis. Peripheral blood samples were obtained from the proband, his affected father and healthy mother, and genomic DNA was extracted. PCR was performed to amplify all exons and their flanking sequences of the SASH1 gene, followed by DNA sequencing. The proband′s mother and 100 unrelated healthy controls served as controls to determine the mutation site. Previous literature and gene mutation databases were searched to rule out the possibility that the SASH1 gene mutations were single nucleotide polymorphisms, and to determine whether it was a known mutation.Results:A 4-generation family consisting of 17 members was investigated, and there were 9 patients in the family, including 7 males and 2 females. Patients existed in each generation, and the disease was inherited in an autosomal dominant manner in this family. Gene sequencing revealed a heterozygous duplication mutation c.49_54dupCCCGAG in exon 1 of the SASH1 gene in the proband and his father. This mutation was not found in his mother or healthy controls, and had not been reported in previous literature or gene mutation databases.Conclusion:The heterozygous duplication mutation c.49_54dupCCCGAG in the SASH1 gene is a pathogenic mutation for the clinical manifestations of familial generalized lentiginosis in this family.

To report a case of generalized lichen amyloidosis successfully treated with dupilumab in China. A 70-year-old male patient presented with extensive itchy papules on the trunk and extremities for 23 years. Skin examination revealed diffuse millet-to mung bean-sized hemispherical brown plaques on the trunk, right anterior shank, and extensor aspect of both upper arms, with a hard texture on palpation. No abnormalities were observed in the blood eosinophil count or serum IgE level. Histopathological examination of the skin lesion on the lower limb showed epidermal hyperkeratosis and homogeneous red-stained lumpy materials in the papillary dermis. Immunohistochemical study showed positive staining with Congo red. The pruritus numerical rating scale score was 10 points. The diagnosis of generalized lichen amyloidosis was confirmed. The patient received subcutaneous injection of dupilumab at an initial dose of 600 mg, followed by an every-2-week regimen at a dose of 300 mg. At week 2 after the start of treatment, pruritus was markedly relieved; at week 14, the skin lesions began to subside markedly; at week 18, the skin lesions on the chest and abdomen nearly completely subsided, and lesions on the lower back and limbs markedly regressed. No obvious adverse reactions were observed.

ObjectiveTo apply resting-state functional magnetic resonance imaging in acute mild traumatic brain injury. MethodsFrom May, 2019 to May, 2021, 47 cases with acute mild traumatic brain injury in Beijing Bo'ai Hospital were selected as observation group, and 50 healthy people who visited for routine physical examination during the same period were as control group. They were scanned with resting-state functional magnetic resonance imaging to measure amplitude of low-frequency fluctuation (ALFF), and they were assessed with Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment (MoCA) and Rivermead Behavioural Memory Test (RBMT). ResultsCompared with the control group, the scores of MMSE, MoCA and RBMT decreased in the observation group (t > 18.138, P < 0.001); while ALFF decreased in the brain areas of posterior cerebellar lobe, cerebellar tonsils, lower half moon lobules, right superior temporal gyrus, right middle temporal gyrus, right parietal lobe and right central posterior gyrus, etc; and ALFF increased in the brain areas of marginal lobe, cingulate gyrus, precuneus, left cerebellar, right superior temporal gyrus, right middle temporal gyrus, right superior frontal gyrus, right middle frontal gyrus, right inferior frontal gyrus, etc. ConclusionThere are disorders in multiple brain areas for patients after acute mild traumatic brain injury, which may associate to the cognitive impairment.

A 25-year-old female patient presented with recurrent painful erythema and blisters on the palms and soles as well as in the axillary and inguinal regions for 1 month. Seven years ago, the patient underwent a small-incision sweat gland resection in the bilateral axillae for the treatment of axillary osmidrosis. One month ago, she underwent chemotherapy with pegylated liposomal doxorubicin (PLD) after surgery for stage-ⅡB cervical synovial sarcoma. During the 3 sessions of chemotherapy, she developed painful edematous erythema on the palms, soles, axillae and groins, which gradually worsened along with the increase in the number of chemotherapy sessions. Skin examination showed large areas of edematous erythema with clear boundaries at bilateral palms, soles, and intertriginous sites including axillae and groins, with millet- to soybean-sized blisters and erosions on the surface; the skin lesions showed relatively high temperature and positive Nikolsky's sign with obvious tenderness; there was no skin lesions or tenderness at the site of small-incision surgery for axillary osmidrosis in bilateral axillae. Histopathological examination of the axillary skin lesions showed formation of blisters under the basal layer and necrosis of some sweat glands. The diagnosis of PLD-associated intertrigo-like hand-foot syndrome was confirmed. The history of surgery for axillary osmidrosis and normal skin at the surgical site in this case suggest that the pathogenesis of this disease may be related to toxic skin reactions to the drug excreted through sweat glands.

Objective:To analyze clinical characteristics of ketosis-associated prurigo pigmentosa after ketogenic diet and bariatric surgery.Methods:Clinical data were collected from patients with ketosis-associated prurigo pigmentosa, who were diagnosed and treated in Department of Dermatology, Peking University People′s Hospital from September 2018 to September 2020. The clinical characteristics, sequelae and therapeutic effect of dietary modification were analyzed and summarized.Results:A total of 6 patients with ketosis-associated prurigo pigmentosa were collected, including 5 females who developed prurigo pigmentosa after ketogenic diet, and 1 male who developed prurigo pigmentosa after bariatric surgery. The skin lesions mainly involved the chest, back, waist and abdomen, and rarely involved the eyelids, axillae, elbows and mons pubis. Common skin lesions included urticaria-like erythema, papules and pigmentation arranged in a reticular distribution, and rare skin lesions included mung bean- to soybean-sized blisters, whose walls were liable to break. Among 5 patients undergoing routine urine analysis, 4 were positive (from + to ++++) for ketone bodies in the urine, and 3 were positive for urinary protein (+) . Pathological examination in 2 patients showed epidermal spongiosis, scattered necrotic keratinocytes, basal cell liquefaction, lymphocyte infiltration in the superficial dermis, and erythrocyte extravasation. The 6 patients were advised to eat staple foods. After dietary modification, 5 patients were nearly cured within 1 week; 1 patient, who continued ketogenic diet for weight loss, still received marked improvement after the treatment with minocycline at a dose of 100 mg/d in spite of restriction of carbohydrate intake. The levels of urinary ketone bodies and urinary protein in the 6 patients all returned to normal within 1 week after treatment.Conclusions:Ketosis plays an important role in the occurrence of prurigo pigmentosa. Dietary modification alone or adjuvant medical treatment such as minocycline is effective for the treatment of ketosis-related prurigo pigmentosa.

Purpose: Reduced quality of life after cystectomy has made bladder preservation a popular research topic for muscle-invasive bladder cancer (MIBC). Previous research has indicated significant tumor downstaging after neoadjuvant chemotherapy (NAC). However, maximal transurethral resection of bladder tumor (TURBT) was performed before NAC to define the pathology, impacting the real evaluation of NAC. This research aimed to assess real NAC efficacy without interference from TURBT and apply combined modality therapies guided by NAC efficacy. Materials and Methods: Patients with cT2-4aN0M0 MIBC were confirmed by cystoscopic biopsy and imaging. NAC efficacy was assessed by imaging, urine cytology, and cystoscopy with multidisciplinary team discussion. Definite responders (≤ T1) underwent TURBT plus concurrent chemoradiotherapy. Incomplete responders underwent radical cystectomy or partial cystectomy if feasible. The primary endpoint was the bladder preservation rate. Results: Fifty-nine patients were enrolled, and the median age was 63 years. Patients with cT3-4 accounted for 75%. The median number of NAC cycles was three. Definite responders were 52.5%. The complete response (CR) was 10.2%, and 59.3% of patients received bladder-sparing treatments. With a median follow-up of 44.6 months, the 3-year overall survival (OS) was 72.8%. Three-year OS and relapse-free survival were 88.4% and 60.0% in the bladder-sparing group but only 74.3% and 37.5% in the cystectomy group. The evaluations of preserved bladder function were satisfactory. Conclusion After stratifying MIBC patients by NAC efficacy, definite responders achieved a satisfactory bladder-sparing rate, prognosis, and bladder function. The CR rate reflected the real NAC efficacy for MIBC. This therapy is worth verifying through multicenter research.

Objective:To compare the effects between video-assisted thoracoscopic surgery (VATS) and conventional surgery in internal fixation of multiple rib fractures.Methods:Patients with multiple rib fractures, who were admitted to Emergency Center of Shenzhen People's Hospital from June 2010 to May 2020, were included. Patients were divided into the VATS group (incision positioning with VATS) and the conventional group (incisionpositioning with CT scan). The primary outcome measures was the risk of complications, and the secondary outcome measures included postoperative pain, incision length, operation time, and mechanical ventilation rate. Continuous and categorical variables were compared using LSD- t test and Chi-square test. Repeated measures analysis of variance was performed to assess the trend of postoperative pain over time. A logistic regression analysis was used to explore the association of VATS with postoperative complications. Results:A total of 221 patients, including 128 patients in the VATS group and 93 patitents in the conventional group, were enrolled. Baseline characteristics were identical between the two groups ( P>0.05). In the VATS group, the length of incision, intraoperative blood loss, operation time, mechanical ventilation rate after operation, ventilation time, thoracic tube indwelling time, ICU and total length of stay, and medical costs were better than those in the conventional group (all P<0.05). Repeated measures analysis of variance showed that pain relief was faster and more profoundly in the VATS group than in the conventional group ( F=3 517.808, P<0.01). Logistic regression analysis indicated that VATS was an independent protective factor for reducing postoperative complications ( OR=0.225, 95% CI:0.121-0.416, P<0.01). Conclusions:During internal fixation of multiple rib fractures, VATS is an effective approach to reduce postoperative pain and complications. Moreover, video-assisted technique is associated with a rapid recovery for patients, resulting in shorter length of hospital stay and less medical costs.

OBJECTIVE: The study aimed to evaluate the contributions of levator ani muscle (LAM) injury, vesical neck movement, urethral length and mobility, and urethral sphincter dysfunction observed on magnetic resonance imaging (MRI) towards stress urinary incontinence (SUI) after vaginal delivery. MATERIALS AND METHODS: Fifty primiparous women after 6 months of delivery (15 with SUI and 35 without) and 35 nulliparous as continent controls underwent MRI at rest and Valsalva maneuver. A published levator ani scoring system was used to characterize morphological changes of LAM. The severity of the injury was divided into three categories as none, minor, and major. A series of common parameters including levator plate angle, iliococcygeal angle, and levator hiatus were used to describe the functional conditions of LAM. Urethral mobility was defined based on the rotation of the urethra between Valsalva and rest status. Vesical neck movement was evaluated by its distance to the pubococcygeal line. Urethral sphincter dysfunction was defined as the widening of the proximal urethra and/or funneling at the urethrovesical junction during Valsalva. RESULTS: Primiparous incontinent (PI) women had additional major levator ani defects (33.3% vs. 17.1%) while less minor defects (0.7% vs. 31.4%) than primiparous continent (PC) women. Vesical neck downward movement in PI women was more obvious than PC women (28.5 mm vs. 24.2 mm, p = 0.006). Urethral mobility was more active in primiparous women than in nulliparous continent controls (57.4 vs. 52.4), whereas no difference was observed on urethral mobility in the primiparous group (p = 0.25). Urethral sphincter dysfunction and funneling were present in 80% of PI women versus 22.9% in PC women (p < 0.001). CONCLUSION: The MRI findings revealed that de novo SUI was associated with major LAM injury, vesical neck downward movement as well as urethral sphincter dysfunction. Vesical neck funneling on sagittal images can be treated as a valuable predictor for SUI. The intervention for the PI should focus on the elevation of vesical neck, rehabilitation of LAM as well as recovery of the urethral sphincter muscle.
Female ; Humans ; Magnetic Resonance Imaging* ; Neck ; Pelvic Floor Disorders ; Pelvic Floor* ; Rehabilitation ; Urethra ; Urinary Incontinence* ; Valsalva Maneuver

Objective To explore the impact of different angles between blood vessels and acoustic axis in the target area on pulse high intensity focused ultrasound (PHIFU) peripheral ablation.Methods Thirty New Zealand rabbits were selected,and the thoracic aortas were obtained.Models of tissue mimicking material were used via embedding the rabbit thoracic aorta into the center of the target barrier area.Then the models were divided into 0°,45° and 90° groups according to the angles with the acoustic axis,and the control group was set up as well (each n =10).Under B-ultrasound monitoring,PHIFU peripheral ablation was performed with the same parameters in each group.The temperature was measured during ablation.After ablation,the models were cut step by step for macroscopic and ultrasound observation.The total volumes (V) were calculated and compared,and the target blood vessels were sampled for pathological examination.Results The peripheral region in control group showed strong echo on ultrasound image,while in 0°,45° and 90° group the blood vessels showed low echo accordingly.The maximal temperatures in control group,0°,45° and 90° group was (98.60 ± 5.76) ℃,(98.90 ± 7.09) ℃,(71.10 ± 13.85) ℃ and (70.20 ± 9.14) ℃,respectively.Statisticaldifference was found between control group and 45°,90° group (all P＜0.05).The total volume in control group,0°,45° and 90° group was (40 709.70 ± 3 193.31) mm3,(40 029.02 ± 3 580.17) mm3,(34 562.59 ± 3 883.26) mm3 and (36 737.01± 3 278.68)mm3,respectively,while no statistical difference was found between control group and 0° group (P＞0.05).Pathological examination showed that the elastic fibers fractured partly,and disruption of cell nucleus were observed in 45° and 90° group.Conclusion When the angle between the blood vessel and acoustic axis is 0°,its impact on energy deposition is minimally,while the destruction of the vascular wall becomes stronger when the angle is 45°and 90°.

Objective To discusse the influence of permeating perfluoropentane drops-encapsulated mesoporous silica nanocapsules (MSNC-PFP) on HIFU surface ablation in vitro bovine liver.Methods Fifity bovine liver tissues were divided into 5 groups:Control group,0.25 mg/ml group,0.50 mg/ml group,1.00 mg/ml group,2.00 mg/ml group according to the concentration of MSNC-PFP.The synergistic agent was injected along the ablation line path under the guiding of ultrasound.The surface ablation model was structured by 6 coagulation necrosis side by using HIFU linear scanning,inner region without melting,and the ultrasonographic changes were observed in the melt area.The coagulation necrosis range was assessed by TTC staining,and necrosis degree was observed by HE staining.The coagulation necrosis volume was measured,the coverage index (CI),external volume index (EI),energy efficiency factor (EEF) were used to evaluate the ablation effect in each group.Results The MSNC-PFP more than 1.00 mg/ml was shown as strong echo in ultrasonic image,fade after 3-5 min.The grey value was changed in HIFU ablation area related to the concentration of MSNC-PFP.The total ablation volume of 0.50 mg/ml group,1.00 mg/ml group,2.00 mg/ml group were more than control group,the EEF was lower than that of the control group (all P＜0.01).The CI and EI of 1.00 mg/ml group and 2.00 mg/ml group were higher than those of the other group (all P＜0.01).The coagulation necrosis became complete when the concentration of MSNC-PFP above 0.50 mg/ml.Conclusion MSNC-PFP can increase the volume of coagulation necrosis,decrease the EEF and increase the efficiency of HIFU surface ablation of bovine liver in vitro.