Phakomatosis pigmentovascularis (PPV) is a rare disease characterized by capillary malformation and melanocytic lesions. Clinical findings may be solely cutaneous or multisystem in nature. Due to the rare clinical situation, doctors are in lack of knowledge of PPV. But with the development of gene detection and medical technology, the researches on PPV have been further deepened in recent years. This review summarizes the research progress of PPV in the area of etiology, pathogenesis, clinical manifestations, diagnosis and treatment to provide references for the diagnosis and treatment of these diseases.

Phakomatosis pigmentovascularis (PPV) is a rare disease characterized by capillary malformation and melanocytic lesions. Clinical findings may be solely cutaneous or multisystem in nature. Due to the rare clinical situation, doctors are in lack of knowledge of PPV. But with the development of gene detection and medical technology, the researches on PPV have been further deepened in recent years. This review summarizes the research progress of PPV in the area of etiology, pathogenesis, clinical manifestations, diagnosis and treatment to provide references for the diagnosis and treatment of these diseases.

Objective:To explore the characteristics of eye tracking movement on circumscribed interests in preschool children with autism spectrum disorder (ASD), providing some reference for behavior correction and rehabilitation training.Methods:Fifty ASD children and fifty-two age-matched typically developing children(TDC) were investigated by the childhood autism rating scale(CARS), the autism diagnostic observation schedule(ADOS), the autism diagnostic interview-revised (ADI-R) and Gesell Developmental Schedule, (GDS). Eye movement during the visual search task was captured by the Tobii Pro X3-120 eye tracker.All data were analyzed by the IBM SPSS Statistics 20.0.Eye movement patterns were compared between TDC and ASD children using the independent-sample t test, and the correlations were then analyzed between abnormal eye movement characteristics and their core syndrome. Results:The total scores of CARS, ADOS and ADI-R in ASD group were 34.13±4.59, 14.44±2.59 and 39.91±12.11 respectively.During passive viewing of complex non-social picture arrays, ASD and TDC group explored total number of images were 9.28±2.72 and 12.67±2.45.The fixation time per image explored in ASD and TDC group were (0.67±0.37)ms and (0.54±0.15)ms.Moreover, the number of discrete fixations per image explored in ASD and TDC group was 2.80±1.00 and 2.48±0.48.Compared with the TDC group, ASD children demonstrated circumscribed attention ( t=6.610, P<0.01) with more perseveration ( t=-2.363, P=0.021) and detail-orientation ( t=-2.360, P=0.021). Exploration was negatively correlated with the total score of ADOS ( r=-0.480, P<0.01), CARS ( r=-0.487, P<0.01), communication score of ADOS( r=-0.290, P=0.041), social score of ADOS( r=-0.491, P<0.01), game score of ADOS( r=-0.397, P=0.004)and communication score of ADI-R( r=-0.331, P=0.025)in the ASD group. Conclusion:Compared with TDC, the eye movement pattern shows the circumscribed interests of ASD children, who not only explore fewer objects but also demonstrate circumscribed attention with more perseveration and detail-orientation.Moreover, the more severe the symptoms of ASD children, the fewer objects the children explore and the more stereotyped the circumscribed interest.

Objective:To investigate the diagnostic method and genetic basis of capillary malformation-arteriovenous malformation 2(CM-AVM2).Methods:A retrospective analysis of clinical data of CM-AVM2. The patients who came to the Department of Plastic and Reconstructive Surgery of Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine from January 2019 to January 2020. Literature related to CM-AVM was searched through PubMed database, CNKI, and SinoMed, and the clinical manifestations and diagnostic methods of CM-AVM2 were analyzed based on the collected case data and literature.Results:2 patients with systemic sporadic atypical erythema also with the mutation of EPHB4, and none of them were associated with high-flow vascular malformation. A total of 3 literatures on CM-AVM2 were retrieved and screened. Combined with the literature and 2 cases, it is concluded that CM-AVM2 is often manifested as atypical erythema similar to CM-AVM, which can be combined with high-flow vascular malformation, and the genetic test of EPHB4 gene mutation can be clearly diagnosed of CM-AVM2. Conclusions:Clinical manifestations, family history and genetic test are effective diagnostic method for CM-AVM. Moreover, the abnormal sprouting angiogenesis cause by EPHB4 mutation may be the mechanism of CM-AVM2.

When plastic surgery meets the era of genetics and genetics-based precision medicine, how will we plastic surgeons face it ? As an example, this article systematically reviewed the identification of serum biomarkers, risk factors, specific genes such as GNAQ, RASA1, TEK and their influences on the diagnosis and treatment of vascular anomalies with the preliminary result found in genetics of hemangiomas and vascular malformations for precision medicine. In addition, a new disease classification system and a treatment breakthrough for complicated vascular malformation based on the innovative genetic evidence, the PIK3CA gene, were briefly summarized. With gene sequencing, bioinformatics and big data, in the hand of China’s huge medical research scale, genetics and precision medicine will provide an inexhaustible driving force for the sustainable development of plastic surgery in the future.

Objective:To investigate the diagnostic method and genetic basis of capillary malformation-arteriovenous malformation 2(CM-AVM2).Methods:A retrospective analysis of clinical data of CM-AVM2. The patients who came to the Department of Plastic and Reconstructive Surgery of Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine from January 2019 to January 2020. Literature related to CM-AVM was searched through PubMed database, CNKI, and SinoMed, and the clinical manifestations and diagnostic methods of CM-AVM2 were analyzed based on the collected case data and literature.Results:2 patients with systemic sporadic atypical erythema also with the mutation of EPHB4, and none of them were associated with high-flow vascular malformation. A total of 3 literatures on CM-AVM2 were retrieved and screened. Combined with the literature and 2 cases, it is concluded that CM-AVM2 is often manifested as atypical erythema similar to CM-AVM, which can be combined with high-flow vascular malformation, and the genetic test of EPHB4 gene mutation can be clearly diagnosed of CM-AVM2. Conclusions:Clinical manifestations, family history and genetic test are effective diagnostic method for CM-AVM. Moreover, the abnormal sprouting angiogenesis cause by EPHB4 mutation may be the mechanism of CM-AVM2.

When plastic surgery meets the era of genetics and genetics-based precision medicine, how will we plastic surgeons face it ? As an example, this article systematically reviewed the identification of serum biomarkers, risk factors, specific genes such as GNAQ, RASA1, TEK and their influences on the diagnosis and treatment of vascular anomalies with the preliminary result found in genetics of hemangiomas and vascular malformations for precision medicine. In addition, a new disease classification system and a treatment breakthrough for complicated vascular malformation based on the innovative genetic evidence, the PIK3CA gene, were briefly summarized. With gene sequencing, bioinformatics and big data, in the hand of China’s huge medical research scale, genetics and precision medicine will provide an inexhaustible driving force for the sustainable development of plastic surgery in the future.

The knee osteoarthritis(KOA)is a kind of degenerative disease, which is more common in the elderly.In recent years, according to the Knee Uneven Settlement Theory, a new treatment method for the knee osteoarthritis by using the proximal fibula osteotomy is popularized in many hospitals.In this article, we reported 1 case undergoing the total knee arthroplasty after the proximal fibula osteotomy for the treatment of knee osteoarthritis and reviewed the relevant literatures.

Intralesional injection is a common method among various therapeutic choices for the treatment of Infantile Hemangiomas. This article reviews the clinical application of intralesional injections for infantile hemangiomas, discusses indications for intralesional injection treatment and evaluates the safety and efficacy of different injected drugs.

To evaluate the feasibility and accuracy of contrast-enhanced ultrasonography (CEUS) for the measurement of hemodialysis access recirculation (AR) and access flow rate (Qa), a two pump system was used to simulate access and dialyzer flow. AR and Qa under different conditions, such as reversal connection of dialysis lines and the needle orientation, were compared with each other. The value of access flow and recirculation flow were calculated based on the formulas introduced in this paper, and the correlation and consistency between true flow rate and calculated values were analyzed. The measured R correlated well with true value of flow rate (r = 0.57, P = 0.038, Qa > Qb; r = 0.95, P = 0.001, Qa < Qb). The Bland-altman test showed good agreement between the calculated value based on CEUS and true values. The CEUS can be used as a new advanced technology for AR and Qa measurement.
Arteriovenous Shunt, Surgical ; Blood Flow Velocity ; Computer Simulation ; Contrast Media ; Humans ; Kidney Failure, Chronic ; blood ; therapy ; Models, Biological ; Monitoring, Physiologic ; instrumentation ; Regional Blood Flow ; Renal Dialysis ; methods ; Ultrasonography