Objective: To analyze the clinical and genetic characteristics of pediatric patients with dual genetic diagnoses (DGD). Methods: Clinical and genetic data of pediatric patients with DGD from January 2021 to February 2022 in Peking University First Hospital were collected and analyzed retrospectively. Results: Among the 9 children, 6 were boys and 3 were girls. The age of last visit or follow-up was 5.0 (2.7,6.8) years. The main clinical manifestations included motor retardation, mental retardation, multiple malformations, and skeletal deformity. Cases 1-4 were all all boys, showed myopathic gait, poor running and jumping, and significantly increased level of serum creatine kinase. Disease-causing variations in Duchenne muscular dystrophy (DMD) gene were confirmed by genetic testing. The 4 children were diagnosed with DMD or Becker muscular dystrophy combined with a second genetic disease, including hypertrophic osteoarthropathy, spinal muscular atrophy, fragile X syndrome, and cerebral cavernous malformations type 3, respectively. Cases 5-9 were clinically and genetically diagnosed as COL9A1 gene-related multiple epiphyseal dysplasia type 6 combined with NF1 gene-related neurofibromatosis type 1, COL6A3 gene-related Bethlem myopathy with WNT1 gene-related osteogenesis imperfecta type XV, Turner syndrome (45, X0/46, XX chimera) with TH gene-related Segawa syndrome, Chromosome 22q11.2 microduplication syndrome with DYNC1H1 gene-related autosomal dominant lower extremity-predominant spinal muscular atrophy-1, and ANKRD11 gene-related KBG syndrome combined with IRF2BPL gene-related neurodevelopmental disorder with regression, abnormal movement, language loss and epilepsy. DMD was the most common, and there were 6 autosomal dominant diseases caused by de novo heterozygous pathogenic variations. Conclusions: Pediatric patients with coexistence of double genetic diagnoses show complex phenotypes. When the clinical manifestations and progression are not fully consistent with the diagnosed rare genetic disease, a second rare genetic disease should be considered, and autosomal dominant diseases caused by de novo heterozygous pathogenic variation should be paid attention to. Trio-based whole-exome sequencing combining a variety of molecular genetic tests would be helpful for precise diagnosis.
Humans ; Abnormalities, Multiple ; Retrospective Studies ; Intellectual Disability/genetics* ; Bone Diseases, Developmental/complications* ; Tooth Abnormalities/complications* ; Facies ; Muscular Dystrophy, Duchenne/complications* ; Muscular Atrophy, Spinal/complications* ; Carrier Proteins ; Nuclear Proteins

"The Expert Group on Tumor Ablation Therapy of Chinese Medical Doctor Association, The Tumor Ablation Committee of Chinese College of Interventionalists, The Society of Tumor Ablation Therapy of Chinese Anti-Cancer Association and The Ablation Expert Committee of the Chinese Society of Clinical Oncology" have organized multidisciplinary experts to formulate the consensus for thermal ablation of pulmonary subsolid nodules or ground-glass nodule (GGN). The expert consensus reviews current literatures and provides clinical practices for thermal ablation of GGN. The main contents include: (1) clinical evaluation of GGN, (2) procedures, indications, contraindications, outcomes evaluation and related complications of thermal ablation for GGN and (3) future development directions.
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Objective To discuss clinical efficacy of patients treated with surgical treatment for posttraumatic elbow stiffness combined with pain.Methods From January 2011 to December 2014,release treatment was performed on 32 cases of posttraumatic contracture of the elbow combined with pain by operation.There were 22 males and 10 females,at average age of 39 years(range from 18 to 65 years).25 cases of these patients with mild-to-moderate pain got a simple elbow release operation.There were 4 cases of severe pain patients complicated with elbow dislocation,after fully release the elbows,reduction was performed under the direct;Both elbow arthrolysis and dermal transplantation interval type elbow arthroplasty were performed in 3 cases of severe pain patients which had severe osteoarthritis.A total of 26 patients were installed hinged external fixator after operation for early functional exercise.Results All patients were followed up for an average time of 14 months(from 12 to 18 months).All patients were significantly improved in the range of elbow and pain symptoms.Postoperative joint function improvement:2 patients with severe stiffness improved to moderate stiffness,19 patients with moderate or severe stiffness improved to mild stiffness,and the remaining of 11 cases without stiffness,The improvement rate was 100％.Postoperative pain:6 cases of moderate or severe pain relieved for mild pain,26 patients pain disappeared,the pain relief rate was 100％.Mayo elbow performance score were evaluated before and after surgery.Preoperative score:the results were good in 6 cases,fair in 14 cases and poorin 12 cases;postoperative score:excellent in 20 cases,good in 8 cases and fair in 4 cases,the good rate is 87.5 ％.The difference between preoperation and postoperation was statistically significant (P＜0.05).Conclusion Elbow arthrolysis combined external fixation is beneficial to early functional rehabilitation and restoring the flexion and extension function of stiff elbow,at the same time,the pain caused by stale dislocation or arthritis of elbow can also get good effect.

Objective: To summarize the effect of propeller flap pedicled with cutaneous branch of digital artery for skin defect at children’s thumb tip. Methods: From December 2012 to October 2015, 12 children with skin defects at thumb tip were treated. The nail matrix was kept in 4 cases, partly injuried in 8 cases. The skin defects size ranged from 1.0 cm×1.0 cm to 1.5 cm×2.0 cm, all more than the size of nail roots. A triangular flap on lateral side of thumb was designed with cutaneous branch of digital artery on thumb ulnar side at wound edge. The defects at donor sites were covered with skin grafts. Results: The flap size ranged from 1.0 cm×1.0 cm to 1.5 cm×2.0 cm. All the flaps and skin grafts survived with primary healing. The children were followed up for 6-12 months(average, 8 months). The flaps had soft texture and good color match and thickness. The cosmeticresult was satisfactory with normal nail growth. According to the standard of the hands of the Chinese Medical Association functional evaluation trial, the hand function was assessed as excellent in 9 cases, good in 3 cases 6 months after operation. Conclusions Propeller flap with cutaneous branch of digital artery is suitable for the skin defect at children’s thumb tip with both satisfactory cosmetic and functionalresult . Themethod is easily performed with reliable venous drainage and less morbidity.

Objective To examine the effect of ultrasonic debridement combined with continuous skin stretching to repair refractory infective wound bed.Methods From January 2016 to July 2016,we treated 15 cases of chronic,refractory infective wound beds using ultrasonic debridement combined with skin stretching technique.Results All the 15 (100％) cases were cured without necrosis of the stretched skin edges.Conclusions Ultrasonic debridement combined with continuous skin stretching is an appropriate technique for repairing the refractory wound bed in the patients who are older,in poor general condition,or poor condition of local skin and soft tissue,or have poor postoperative effect,or surgical contraindication or at higher risk of surgery.

OBJECTIVETo investigate the long-term clinical efficacy and adverse effects of botulinum toxin-A (BTX-A) injection in the treatment of gastrocnemius spasticity in children aged 9-36 months with cerebral palsy.

METHODSEighty children aged 9-36 months with cerebral palsy and gastrocnemius spasticity were selected and randomly divided into a BTX-A injection group and a conventional treatment group (n=40 each). The children in the BTX-A injection group received injections of BTX-A guided by color Doppler ultrasound and 4 courses of rehabilitation training after injection. Those in the conventional treatment group received 4 courses of the same rehabilitation training alone. Before treatment and at 1, 2, 3, and 6 months after treatment, the modified Tardieu scale (MTS) was applied to assess the degree of gastrocnemius spasticity, the values in the passive state measured by surface electromyography (sEMG) were applied to evaluate muscle tension, and the Gross Motor Function Measure (GMFM) was used to evaluate gross motor function.

RESULTSCompared with the conventional treatment group, the BTX-A injection group had significantly greater reductions in MTS score and the values in the passive state measured by sEMG (P<0.05), as well as significantly greater increases in joint angles R1 and R2 in MTS and gross motor score in GMFM (P<0.05). No serious adverse reactions related to BTX-A injection were found.

CONCLUSIONSBTX-A injection is effective and safe in the treatment of gastrocnemius spasticity in children aged 9-36 months with cerebral palsy.

Botulinum Toxins, Type A ; administration & dosage ; Cerebral Palsy ; drug therapy ; physiopathology ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Muscle Spasticity ; drug therapy ; physiopathology ; Muscle, Skeletal ; drug effects ; physiopathology ; Prospective Studies ; Treatment Outcome

BACKGROUNDFractional flow reserve (FFR) is currently considered as the gold standard for evaluating the functional significance of coronary stenosis. However, its potential benefits in real-world practice remain unknown in China. This study aimed to test the hypothesis that the use of FFR is associated with improved outcome and reduced cost in Chinese real-world clinical practice.

METHODSA retrospective cohort study was carried out using the database of Second Affiliated Hospital of Zhejiang University, a tertiary and high-volume center in China. Clinical events were compared using the Cox proportional hazards model during a median follow-up of 13 months.

RESULTSThe study cohort consisted of 366 consecutive patients referred for coronary revascularization with adjunct FFR and 366 matched controls, from 2010 to 2014. Major adverse cardiac events (MACEs) (death, myocardial infarction, repeated revascularization, or hospitalization for angina) at 4 years were found in 12.0% of angiography-guided patients and 4.9% in the FFR-guided group (P < 0.001). The mean number of implanted stents was significantly lower in FFR treated subjects (0.52 ± 0.82 stents) compared with the angiography-guided group (0.93 ± 0.96 stents) (P < 0.001). No difference in overall costs at initial hospitalization was observed between angiography-guided percutaneous coronary intervention (PCI) compared with FFR-guided PCI (RMB 33,000 Yuan, range: RMB 7393-44,700 Yuan) versus RMB 21,200 Yuan (RMB 19,100-47,100 Yuan) (P = 0.54). However, costs for MACEs during follow-up were significantly reduced in the FFR-guided arm (P < 0.001).

CONCLUSIONSIn the contemporary clinical practice, FFR-guided PCI is associated with decreased use of stents, improved clinical outcome, and reduced costs, compared with angiography-guided PCI.

Aged ; China ; Costs and Cost Analysis ; Female ; Fractional Flow Reserve, Myocardial ; physiology ; Humans ; Male ; Middle Aged ; Percutaneous Coronary Intervention ; economics ; methods ; Retrospective Studies

OBJECTIVES: Characteristic symptoms, including hyperactivity and easy distractibility, in children with attention-deficit hyperactivity disorder (ADHD) suggest that their brain status, even at rest, might differ from that of healthy children. This study was conducted in order to determine whether resting state brain activity is compromised in medication-naive children with ADHD. METHODS: Twenty medication-naive children with ADHD (mean age 10.3+/-2.5) and 28 age- and gender-matched healthy volunteers (mean age 10.3+/-2.0) underwent measurements for resting state brain activity using functional magnetic resonance imaging (fMRI). Among resting state related-independent components (RSICs) extracted from fMRI data using independent component analysis, a significant difference in RSICs was observed between groups, using a mixed Gaussian/gamma model. RESULTS: Except for IQ, which was higher in the healthy control group, no demographic difference was observed between the two groups (p<.001). Significantly less activation of one RSIC, which includes the bilateral precuneus/posterior cingulate cortex, occipito-temporal junction, and anterior cingulate cortex, was observed in the ADHD group, compared with the control group (p<.05). CONCLUSION: An abnormal RSIC, posterior default mode network (DMN), was observed in the medication-naive ADHD group. Results of our study suggest that abnormality of posterior DMN is one of the main pathophysiologies of ADHD.
Brain ; Child ; Gyrus Cinguli ; Humans ; Magnetic Resonance Imaging

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Antigens, CD ; metabolism ; Antigens, Differentiation, Myelomonocytic ; metabolism ; Child ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Histiocytosis, Sinus ; diagnostic imaging ; metabolism ; pathology ; surgery ; Humans ; Male ; Middle Aged ; Nose Diseases ; diagnostic imaging ; metabolism ; pathology ; surgery ; Nose Neoplasms ; metabolism ; pathology ; Plasmacytoma ; metabolism ; pathology ; Recurrence ; Rhinoscleroma ; metabolism ; pathology ; S100 Proteins ; metabolism ; Tomography, X-Ray Computed ; Young Adult

BACKGROUND AND PURPOSE: Alzheimer's disease (AD) is associated with structural alterations in the medial temporal lobe (MTL) and functional alterations in the posterior cortical region, especially in the early stages. However, it is unclear what mechanisms underlie these regional discrepancies or whether the posterior cortical hypometabolism reflects disconnection from the MTL lesion or is the result of local pathology. The precuneus, an area of the posteromedial cortex that is involved in the early stages of AD, has recently received a great deal of attention in functional neuroimaging studies. To assess the relationship between the precuneus and hippocampus in AD, we investigated the volumes of these two areas using a magnetic resonance volumetric method. METHODS: Twenty-three subjects with AD and 14 healthy age-matched controls underwent T1-weighted three-dimensional volumetric brain magnetic resonance imaging. Volumetric measurements were performed in the precuneus and hippocampus. RESULTS: Compared to controls, AD patients exhibited a significant reduction in total precuneal volume, which was more prominent on the right side, and significant bilateral reductions in hippocampal volume. No correlation was found between the total volumes of the precuneus and hippocampus in the AD group. CONCLUSIONS: These results suggest that volumetric measurements of both the precuneus and hippocampus are useful radiological indices for the diagnosis of AD. Furthermore, the lack of correlation is attributable to local pathology rather than being a secondary consequence of MTL pathology.
Alzheimer Disease ; Brain ; Functional Neuroimaging ; Hippocampus ; Humans ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Magnetics ; Magnets ; Temporal Lobe