Objective: To investigate the clinical efficacy of liver transplantation in the treatment of acute liver in children with NBAS gene deficiency disease and their outcome. Methods: This retrospective study enrolled children with NBAS gene deficiency who were admitted to the Children's Hospital of Fudan University for liver transplantation from January 2013 to June 2022. The clinical data were collected and analyzed. Medical literature published before June 2022 was searched with the keywords of "NBAS" "neuroblastoma amplified sequence recurrent" "acute liver failure" "SOPH syndrome" "short stature with optic nerve atrophy" "Pelger-Huët anomaly" in PubMed, China National Knowledge Infrastructure and Wanfang database. Results: Liver transplantation was performed in 3 patients (2 males and 1 female) with NBAS deficiency. All patients presented with fever-triggered recurrent acute liver failure. The genetic detection found compound heterozygous NBAS gene pathogenic variants in them. The total episodes of acute liver failure before liver transplantation were 11, 2, and 4 respectively, and the age at liver transplantation was 3.5, 2.3, and 2.0 years respectively. During liver transplantation, patient 1 was in the convalescent phase of acute liver failure, patient 2 was in the acute phase, presenting with hepatic encephalopathy (grade V) and respiratory failure, and patient 3 was considered to be in the acute phase. After liver transplantation, patient 1 recovered normal liver function within 1 month and had no liver transplantation-related complications. Patient 2 had secondary epilepsy, intellectual disability, movement disorder, and transiently elevated transaminases. Patient 3 died of severe infection within 1 month. There was no literature in Chinese, 6 in English, 8 NBAS-deficient patients who were treated with liver transplantation. Total 11 patients presented with fever-triggered recurrent acute liver failure. Their age at liver transplantation ranged from 0.9 to 5.0 years. Postoperative complications occurred in 3 patients. Until the last visit, they were followed up for 0.7 to 14.0 years. Total 2 patients died and the 9 surviving patients did not develop acute liver failure. Conclusions: Liver transplantation is effective for the treatment of acute liver failure associated with NBAS gene disease. However, postoperative complications of liver transplantation may occur. The timing of liver transplantation still needs further research.
Child ; Male ; Humans ; Female ; Infant ; Child, Preschool ; Retrospective Studies ; Neoplasm Proteins/genetics* ; Optic Atrophy/genetics* ; Pelger-Huet Anomaly/genetics* ; Liver Failure, Acute/complications*

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

Objective To study the influence of recombinant bovine basic fibroblast growth factor as an adjuvant therapy on scar alleviation and inflammatory cytokines in patients with atrophic acne scar. Methods The random number table was employed to randomly assign 120 patients with atrophic acne scar into a test group and a control group.Both groups of patients were treated with CO₂ lattice laser.After the operation,the control group was routinely smeared with erythromycin ointment and the test group was coated with recombinant bovine basic fibroblast growth factor gel.The clinical efficacy,clinical indicators,scar alleviation,and inflammatory cytokine levels before and after treatment were compared,and adverse reactions were counted. Results The test group had higher total effective rate(P=0.040) and lower total incidence of adverse reactions(P=0.028) than the control group.Compared with the control group,the test group showcased short erythema duration after treatment(P=0.025),early scab forming(P=0.002),and early edema regression(P<0.001).After treatment,the proportion of grade 1 scars graded by Goodman and Baron's acne scar grading system in the test group and control group increased(P=0.001,P=0.027),and the proportion of grade 4 scars decreased(P<0.001,P=0.034).Moreover,the proportion of grade 1 scars in the test group was higher than that in the control group(P=0.031) after treatment,and the proportion of grade 4 scars presented an opposite trend(P=0.031).After treatment,the levels of tumor necrosis factor-α(TNF-α) and interleukin-1β(IL-1β) in both groups declined(all P<0.001),and the test group had lower TNF-α and IL-1β levels than the control group(all P<0.001). Conclusion The recombinant bovine basic fibroblast growth factor gel as an adjuvant therapy of CO₂ lattice laser can effectively alleviate the atrophic acne scar,relieve local inflammatory reaction,and has good curative effect and less adverse reactions.
Acne Vulgaris/drug therapy* ; Animals ; Atrophy/complications* ; Carbon Dioxide ; Cattle ; Cicatrix/pathology* ; Fibroblast Growth Factor 2/therapeutic use* ; Humans ; Treatment Outcome ; Tumor Necrosis Factor-alpha

The use of artificial urinary sphincter (AUS) for the treatment of stress urinary incontinence has become more prevalent, especially in the "prostate-specific antigen (PSA)-era", when more patients are treated for localized prostate cancer. The first widely accepted device was the AMS 800, but since then, other devices have also entered the market. While efficacy has increased with improvements in technology and technique, and patient satisfaction is high, AUS implantation still has inherent risks and complications of any implant surgery, in addition to the unique challenges of urethral complications that may be associated with the cuff. Furthermore, the unique nature of the AUS, with a control pump, reservoir, balloon cuff, and connecting tubing, means that mechanical complications can also arise from these individual parts. This article aims to present and summarize the current literature on the management of complications of AUS, especially urethral atrophy. We conducted a literature search on PubMed from January 1990 to December 2018 on AUS complications and their management. We review the various potential complications and their management. AUS complications are either mechanical or nonmechanical complications. Mechanical complications usually involve malfunction of the AUS. Nonmechanical complications include infection, urethral atrophy, cuff erosion, and stricture. Challenges exist especially in the management of urethral atrophy, with both tandem implants, transcorporal cuffs, and cuff downsizing all postulated as potential remedies. Although complications from AUS implants are not common, knowledge of the management of these issues are crucial to ensure care for patients with these implants. Further studies are needed to further evaluate these techniques.
Atrophy ; Humans ; Postoperative Complications/therapy* ; Prosthesis Failure ; Prosthesis Implantation ; Prosthesis-Related Infections/therapy* ; Urethra/pathology* ; Urethral Diseases/therapy* ; Urethral Stricture/surgery* ; Urinary Incontinence, Stress/surgery* ; Urinary Sphincter, Artificial

OBJECTIVES: To study the forensic features of diffuse brain atrophy after trauma, the relationship between age and interval time of post-traumatic brain atrophy, and the relationship between the degree of craniocerebral injury and that of brain atrophy. METHODS: The forensic features of 25 cases of diffuse brain atrophy after craniocerebral trauma were retrospectively analyzed from aspects of gender, age, craniocerebral injury characteristics, and imaging characteristics of brain atrophy. Pearson correlation analysis was used for statistical analysis. RESULTS: Diffuse brain atrophy after trauma could occur in any age group, dominated by severe brain injury. The Pearson correlation coefficients （r） between the time interval of brain atrophy and age were 0.442 （ P<0.05）, 0.341 （P>0.05）, and 0.904 （ P<0.05） for the overall cases, the group over age 50, and the group under age 50, respectively. The correlation coefficient between the degree of brain injury and that of brain atrophy was 0.579 （ P<0.05）, and that between severe brain injury and brain atrophy was 0.788 （ P<0.05）. CONCLUSIONS The more serious the brain injury, the more severe the brain atrophy. Various degrees of diffuse brain atrophy can occur in severe craniocerebral injury, and diffuse brain atrophy is usually mild and moderate after mild and moderate craniocerebral injury. In the practice of forensic clinical identification, a comprehensive analysis should be conducted with the combination of case materials when the identified person has high risk factors leading to brain atrophy （e.g., hypertension, diabetes, etc.）, plus injury and illness relationship analysis if necessary.
Atrophy ; Brain/pathology* ; Brain Injuries/complications* ; Craniocerebral Trauma ; Humans ; Retrospective Studies

In the present study we explored the different patterns of volumetric atrophy in hippocampal subregions of patients with left and right mesial temporal lobe epilepsy with hippocampal sclerosis (TLE-HS). Meanwhile, the memory impairment patterns in Chinese-speaking TLE-HS patients and potential influencing factors were also determined. TLE-HS patients (21 left and 17 right) and 21 healthy controls were recruited to complete T2-weighted imaging and verbal/nonverbal memory assessment. The results showed that both left and right TLE-HS patients had overall reduced hippocampal subregion volumes on the sclerotic side, and cornu ammonis sectors (CA1) exhibited maximum atrophy. The verbal memory of left TLE-HS patients was significantly impaired (P < 0.001) and was not associated with the volumes of the left hippocampal subregions. Verbal or nonverbal memory impairment was not found in the patients with right TLE-HS. These results suggested that the atrophy of hippocampal subregion volumes cannot account for the verbal memory impairment, which might be related to the functional network.
Adult ; Asian Continental Ancestry Group ; Atrophy ; pathology ; Epilepsy, Temporal Lobe ; complications ; pathology ; Female ; Functional Laterality ; Hippocampus ; pathology ; Humans ; Male ; Memory Disorders ; etiology ; pathology ; Sclerosis ; pathology ; Young Adult

Spinal and bulbar muscular atrophy (SBMA) is a rare X-linked motor neuron disease with significant phenotypic viability. Here, we present a genetically identified SBMA family without bulbar paralysis or androgen insensitivity. All four male patients presented with progressive lower motor neuron paralysis in all limbs, with distal extremities more dominant. None of them had bulbar palsy or androgen insensitivity. A consistently mild elevated blood creatine phosphokinase (CPK) levels were detected in all patients and the EMG showed a chronic neurogenic damage. Muscle biopsy of propositus indicated a typical neurogenic amyotrophy. Genetic testing for SMA of mutation in SMN1 was negative, while for SBMA of androgen receptor showed the increased CAG repeat in exon 1, suggesting that although bulbar symptoms and androgen insensitivity are characteristic symptoms of SBMA, they are not obligatory for the diagnosis. In adult males with a chronic motor neuron syndrome without upper motor neuron signs, even in absence of the classical features of androgen insensitivity or bulbar findings, genetic testing for SBMA should be strongly considered.
Adult ; Bulbo-Spinal Atrophy, X-Linked ; complications ; diagnosis ; genetics ; Creatine Kinase ; blood ; Genetic Testing ; Humans ; Male ; Motor Neurons ; pathology ; Muscular Atrophy ; etiology ; Mutation ; genetics ; Paralysis ; diagnosis ; etiology ; Pedigree ; Receptors, Androgen ; genetics

OBJECTIVETo observe the effect of Shenshuai Yingyang Capsule (SSYYJN) in ameliorating muscle atrophy in rats with chronic renal failure (CRF) and explore the role of Wnt7a-Akt/mTOR signal pathway in mediating this effect.

METHODSMale rats were randomly assigned to 5/6 nephrectomy group and sham-operated group, and the former group was further randomly divided into CRF model group, KA group, and SSYYJN group. The size of anterior tibia muscle was examined microscopically with HE staining. Protein synthesis in the soleus muscle was investigated by (14)C-phenylalanine experiment, and the expression of Wnt7a, frizzled-7, phospho-Akt, phospho-mTOR and GAPDH were detected with Western blotting.

RESULTSThe body weight, the wet and dry weight, cross-sectional area, and muscle protein synthesis of the anterior tibia muscles, and expressions of the proteins in the Wnt7a/Akt signaling pathway all increased significantly in SSYYJN and KA groups as compared with those in the model group.

CONCLUSIONSSYYJN can effectively improve muscle atrophy in the rat model of CRF possibly by reversing the reduction in the expressions of Wnt7a/Akt signaling pathway proteins in the skeletal muscles.

Animals ; Capsules ; Drugs, Chinese Herbal ; pharmacology ; Kidney Failure, Chronic ; complications ; Male ; Muscle Proteins ; biosynthesis ; Muscle, Skeletal ; drug effects ; Muscular Atrophy ; drug therapy ; Nephrectomy ; Proto-Oncogene Proteins ; metabolism ; Rats ; Signal Transduction ; TOR Serine-Threonine Kinases ; metabolism ; Wnt Proteins ; metabolism

We compared the predictive ability of the various neuroimaging tools and determined the most cost-effective, non-invasive Alzheimer's disease (AD) prediction model in mild cognitive impairment (MCI) individuals. Thirty-two MCI subjects were evaluated at baseline with [18F]-fluorodeoxyglucose positron emission tomography (FDG-PET), MRI, diffusion tensor imaging (DTI), and neuropsychological tests, and then followed up for 2 yr. After a follow up period, 12 MCI subjects converted to AD (MCIc) and 20 did not (MCInc). Of the voxel-based statistical comparisons of baseline neuroimaging data, the MCIc showed reduced cerebral glucose metabolism (CMgl) in the temporo-parietal, posterior cingulate, precuneus, and frontal regions, and gray matter (GM) density in multiple cortical areas including the frontal, temporal and parietal regions compared to the MCInc, whereas regional fractional anisotropy derived from DTI were not significantly different between the two groups. The MCIc also had lower Mini-Mental State Examination (MMSE) score than the MCInc. Through a series of model selection steps, the MMSE combined with CMgl model was selected as a final model (classification accuracy 93.8%). In conclusion, the combination of MMSE with regional CMgl measurement based on FDG-PET is probably the most efficient, non-invasive method to predict AD in MCI individuals after a two-year follow-up period.
Aged ; Alzheimer Disease/complications/*diagnosis ; Atrophy/pathology ; Biomarkers/blood ; Brain/*pathology ; Diffusion Tensor Imaging/methods ; Female ; Glucose/*metabolism ; Gray Matter/*pathology ; Humans ; Male ; Mild Cognitive Impairment/*diagnosis/etiology ; Neuroimaging/methods ; Positron-Emission Tomography/methods ; Reproducibility of Results ; Sensitivity and Specificity ; Severity of Illness Index ; White Matter/*pathology

PURPOSE: To seek for mechanisms to prevent fixed dilated pupil including Urrets-Zavalia syndrome after intraocular surgery by analyzing and classifying the causes of such cases. METHODS: Medical records and anterior segment photographic images of patients with fixed dilated pupil who underwent penetrating keratoplasty, lamellar keratoplasty, or cataract surgery were analyzed in a retrospective manner from April, 1984 to February, 2014. RESULTS: Among 15 cases of postoperative fixed dilated pupil, 8 eyes of keratoconus eyes had received penetrating keratoplasty done and 7 eyes with ocular disorders other than keratoconus underwent intraocular surgeries. In cases 1 and case 2, which received penetrating keratoplasty for keratoconus, dilated pupil with regular pupil border, iris atrophy, and secondary glaucoma occurred; these cases were classified as group 1 and diagnosed as Urrets-Zavalia syndrome. Cases from 3 to 8 which also received penetrating keratoplasties due to keratoconus, irregularly dilated pupil, severe iris atrophy, posterior synechiae after moderate to severe inflammation in the anterior chamber, and fibrotic membrane on the anterior capsule occurred; these cases were classified as group 2. Finally, cases 9 to 15, which had mild inflammation, no fibrotic membrane, and regularly fixed dilated pupil after receiving other intraocular surgeries were classified as group 3. CONCLUSIONS: Differences exist between definite Urrets-Zavalia syndrome and postoperative fixed dilated pupil with regards to regularity of pupillary margin, degree of iris atrophy, posterior synechiae, fibrotic membrane, and posterior subcapsular opacity. Therefore, a new classification of fixed dilated pupil after intraocular surgery which addresses these characteristics is required and various trials to prevent the adverse postoperative complications of fixed dilated pupil should be performed. Preventive measures may include careful control of intraocular pressure, restricting atropine use, completely removing of viscoelastics, and minimal air or gas injection.
Anterior Chamber ; Atrophy ; Atropine ; Cataract ; Classification* ; Corneal Transplantation ; Glaucoma ; Humans ; Inflammation ; Intraocular Pressure ; Iris ; Keratoconus ; Keratoplasty, Penetrating ; Medical Records ; Membranes ; Postoperative Complications ; Pupil* ; Retrospective Studies