1.Diffuse CNS cortical vein malformations with chromosome 17q microduplication: Possible link to SEC14L1
Shiwei HUANG ; William DOBYNS ; Corinne DUNCAN ; David NASCENE
Journal of Cerebrovascular and Endovascular Neurosurgery 2024;26(3):298-303
Partial trisomy of the long arm of chromosome 17 (17q) is a rare but clinically recognized syndrome that involves facial dysmorphisms, skeletal abnormalities, and global developmental delay, as well as various reports of cardiovascular, renal, and central nervous system abnormalities. This report presents a novel neuroradiologic finding of diffuse enlarged, tortuous cortical veins with physiological antegrade flow in a child with a microduplication of the distal end of 17q. To our knowledge, this finding has not been described previously. Although the exact cause for the cortical vascular anomaly is currently unknown, this duplicated region contains genes of interest for future studies that focus on normal and abnormal angiogenesis
2.Diffuse CNS cortical vein malformations with chromosome 17q microduplication: Possible link to SEC14L1
Shiwei HUANG ; William DOBYNS ; Corinne DUNCAN ; David NASCENE
Journal of Cerebrovascular and Endovascular Neurosurgery 2024;26(3):298-303
Partial trisomy of the long arm of chromosome 17 (17q) is a rare but clinically recognized syndrome that involves facial dysmorphisms, skeletal abnormalities, and global developmental delay, as well as various reports of cardiovascular, renal, and central nervous system abnormalities. This report presents a novel neuroradiologic finding of diffuse enlarged, tortuous cortical veins with physiological antegrade flow in a child with a microduplication of the distal end of 17q. To our knowledge, this finding has not been described previously. Although the exact cause for the cortical vascular anomaly is currently unknown, this duplicated region contains genes of interest for future studies that focus on normal and abnormal angiogenesis
3.Diffuse CNS cortical vein malformations with chromosome 17q microduplication: Possible link to SEC14L1
Shiwei HUANG ; William DOBYNS ; Corinne DUNCAN ; David NASCENE
Journal of Cerebrovascular and Endovascular Neurosurgery 2024;26(3):298-303
Partial trisomy of the long arm of chromosome 17 (17q) is a rare but clinically recognized syndrome that involves facial dysmorphisms, skeletal abnormalities, and global developmental delay, as well as various reports of cardiovascular, renal, and central nervous system abnormalities. This report presents a novel neuroradiologic finding of diffuse enlarged, tortuous cortical veins with physiological antegrade flow in a child with a microduplication of the distal end of 17q. To our knowledge, this finding has not been described previously. Although the exact cause for the cortical vascular anomaly is currently unknown, this duplicated region contains genes of interest for future studies that focus on normal and abnormal angiogenesis
4.Diffuse CNS cortical vein malformations with chromosome 17q microduplication: Possible link to SEC14L1
Shiwei HUANG ; William DOBYNS ; Corinne DUNCAN ; David NASCENE
Journal of Cerebrovascular and Endovascular Neurosurgery 2024;26(3):298-303
Partial trisomy of the long arm of chromosome 17 (17q) is a rare but clinically recognized syndrome that involves facial dysmorphisms, skeletal abnormalities, and global developmental delay, as well as various reports of cardiovascular, renal, and central nervous system abnormalities. This report presents a novel neuroradiologic finding of diffuse enlarged, tortuous cortical veins with physiological antegrade flow in a child with a microduplication of the distal end of 17q. To our knowledge, this finding has not been described previously. Although the exact cause for the cortical vascular anomaly is currently unknown, this duplicated region contains genes of interest for future studies that focus on normal and abnormal angiogenesis
6.Concurrent intermediate uveitis and an enhancing intracranial lesion as the initial manifestation of sarcoidosis.
Elaine H Z HUANG ; Kim-Teck YEO ; Wee-Kiak LIM ; Cora Y P CHAU ; William Y K HWANG
Annals of the Academy of Medicine, Singapore 2006;35(4):266-269
INTRODUCTIONPosterior segment involvement has been described to be associated with central nervous system involvement in sarcoidosis as a result of direct sarcoid tissue infiltration or mass effect of a cerebral lesion. However, isolated intermediate uveitis occurring concurrently with central nervous system involvement prior to extensive systemic disease is rare.
CLINICAL PICTUREWe describe a patient with neuro-ophthalmic manifestations of intermediate uveitis and an enhancing basal ganglia lesion at initial presentation, in the absence of extensive systemic disease.
TREATMENTHe was treated with high-dose systemic steroids which was progressively tailed down over 6 months.
OUTCOMEThere was prompt resolution of vitritis with good preservation of visual acuity.
CONCLUSIONThe difficulties of the initial diagnosis of sarcoidosis and the indications for initiation of steroid therapy are illustrated. We use this case to emphasise the need for a high clinical suspicion of sarcoidosis in the presence of similar unusual and seemingly unrelated combinations of neurological manifestations so as to facilitate the prompt institution of appropriate treatment when indicated.
Adult ; Angiography ; Basal Ganglia ; diagnostic imaging ; physiopathology ; Brain Ischemia ; complications ; diagnosis ; Comorbidity ; Diagnosis, Differential ; Humans ; Magnetic Resonance Imaging ; Male ; Sarcoidosis ; complications ; diagnosis ; Time Factors ; Tomography, X-Ray Computed ; Uveitis ; complications ; diagnosis
7.The metabolite,alpha-ketoglutarate inhibits non-alcoholic fatty liver disease progression by targeting lipid metabolism
Nagaoka KATSUYA ; Mulla JOUD ; Cao KEVIN ; Cheng ZHIXIANG ; Liu DAN ; Mueller WILLIAM ; Bay AMALIA ; Hildebrand GRACE ; Lu SHAOLEI ; Huang CHIUNG-KUEI
Liver Research 2020;4(2):94-100
Background:Non-alcoholic liver disease is of increased concern and contributing to economic burdens not only in developing countries but in developed countries as well.Identifying the biomarker of early diagnosis and early intervention approaches for non-alcoholic liver disease is unmet and required further investigation.Although the alpha-ketoglutarate(α-KG)is recently proposed to be a potential biomarker in differentiating patients with obesity from those with non-alcoholic liver disease,how α-ketoglutatate is involved in the fatty liver progression is not clear. Methods:A high-fat diet(HFD)feeding animal model,liver functional assays,and molecular approaches were adopted to clarify the impact of α-KG in fatty liver progression. Results:In the current study,it was found that dietary α-KG would inhibit weight gain in male and female mice fed with a normal chew or HFD.HFD feeding caused fatty liver in male mice,but α-KG treatment could substantially inhibit hepatic steatosis progression.Biochemical studies revealed the possible linkage of α-KG protective functions to lipid metabolism.Further analysis identified the important role of peroxisome proliferator-activated receptors in beneficial α-KG-mediated effects on fatty liver progression. Conclusions:The current study demonstrates the therapeutic potential of α-KG and how it may be used,via dietary supplementation,as a preventive intervention for non-alcoholic liver disease in obese patients.
8.A five-year follow-up study on the pathological changes of gastric mucosa after H. pylori eradication.
Liya ZHOU ; Joseph J Y SUNG ; Sanren LIN ; Zhu JIN ; Shigang DING ; Xuebiao HUANG ; Zhiwei XIA ; Huilan GUO ; Jianjun LIU ; William CHAO
Chinese Medical Journal 2003;116(1):11-14
OBJECTIVESTo investigate the relationship between H. pylori infection, gastric cancer and other gastric diseases through the changes in gastric mucosa and the status of different gastric diseases within 5 years after H. pylori eradication in H. pylori-positive subjects in a high incidence region of gastric cancer.
METHODSOne thousand and six adults were selected from the general population in Yantai, Shandong province, a high incidence region for gastric cancer in China. Gastroscopy and Campylobacter-like organism (CLO) testing were performed on all subjects. Biopsy samples from the gastric antrum and body were obtained for histology and assessment of H. pylori infection. All H. pylori-positive subjects were then randomly divided into two groups: treatment group receiving Omeprazole Amoxicillin Clarythromycin (OAC) triple therapy and placebo as controls. These subjects were endoscopically followed up in the second and fifth year. We compared the endoscopic appearance and histology of the biopsy specimens from the same site obtained at the first and last visits.
RESULTSAll 552 H. pylori-positive subjects were randomly and evenly divided into treatment group or control group. During the five-year follow-up, the numbers of patients who continued to be negative or positive for H. pylori were 161 and 198, respectively. Statistical analysis revealed that: (1) At the initial visit, there were no significant differences in the severity and activity of inflammation, atrophy and intestinal metaplasia between the biopsy specimens from the antrum and body respectively in both groups. (2) The severity and activity of inflammation in both the antrum and body were markedly reduced after H. pylori eradication (P = 0.000). (3) Within five years after H. pylori eradication, intestinal metaplasia in the antrum either regressed or had no progression, while the proportion of intestinal metaplasia in the H. pylori-positive group increased significantly (P = 0.032). (4) After H. pylori eradication, the atrophy in both the antrum and body had no significant regression. The P value was 0.223 and 0.402, respectively.
CONCLUSIONSH. pylori eradication results in remarkable reduction in the severity and activity of chronic gastritis, marked resolution of intestinal metaplasia in the antrum. On the other hand, continuous H. pylori infection leads to progressive aggravation of atrophy and intestinal metaplasia.
Adult ; Aged ; Double-Blind Method ; Follow-Up Studies ; Gastric Mucosa ; pathology ; Gastritis ; etiology ; Helicobacter Infections ; complications ; drug therapy ; pathology ; Helicobacter pylori ; Humans ; Metaplasia ; Middle Aged ; Stomach Neoplasms ; etiology
9.HPV16-specific immune characteristics in HPV vaccinees, patients with cervical precancerous lesions or cervical cancer
Xiaowen HUANG ; Can YUE ; Xingxian SHI ; Yingze ZHAO ; Min MIN ; Liqun YU ; Peipei LIU ; J. William LIU ; Guolan GAO
Chinese Journal of Experimental and Clinical Virology 2021;35(3):246-251
Objective:To comparative investigate the HPV16 virus-specific immune characteristics of HPV vaccinees, cervical precancerous lesions patients and cervical cancer patients.Methods:Six female HPV vaccinees, five patients with cervical precancerous lesions or cervical cancer and 8 healthy female volunteers from Beijing were recruited as subjects. Peripheral anticoagulated blood specimens were collected from these subjects and the peripheral blood mononuclear cells (PBMCs) and plasma were isolated. After culturing in vitro with the stimulation of L1 protein peptide pool derived from HPV16 for 9-10 days, the percentage of CD4 + and CD8 + -T lymphocytes secreting cytokines IFN-γ, IL-2 and TNF-α in the PBMCs were detected by flow cytometry. The level of HPV16 IgG antibody in plasma was determined by ELISA. Results:The IgG levels of vaccinees were significantly higher than those of healthy donors as well as patients with cervical precancerous lesions or cervical cancer. Moreover, the specific CD4 + T cell immune level of vaccinees against HPV16 was significantly higher than that of healthy controls. Furthermore, there was a positive correlation between the level of specific T cell immunity and the level of antibody against HPV16 in all the donors (Pearson, r>0.4, p<0.05). Conclusions:The virus-specific immune responses, i. e. humoral responses as well as cellular immune responses are presenting diversely among different HPV-related subjects. HPV vaccinees possess robust humoral immunity and CD4 + T cell responses.
10.Impact of a nationwide training program for neonatal resuscitation in China.
Tao XU ; Hui-shan WANG ; Hong-mao YE ; Ren-jie YU ; Xing-hua HUANG ; Dan-hua WANG ; Li-xin WANG ; Qi FENG ; Li-min GONG ; Yi MA ; William KEENAN ; Susan NIERMEYER
Chinese Medical Journal 2012;125(8):1448-1456
BACKGROUNDSeventeen million births occur in China each year. Neonatal mortality is the leading cause of under 5-year-old child deaths, and intrapartum-related injury accounts for much of mental retardation in young children. The Chinese Ministry of Health sought to improve infant and child survival through a nationwide initiative to have at least one person trained in neonatal resuscitation at every birth. The aim of the current study was to evaluate the impact of China Neonatal Resuscitation Program (NRP) on policy and infrastructure changes and its effectiveness in decreasing the incidence of mortality among newborn infants.
METHODSThe Chinese NRP incorporated policy change, professional education, and creation of a sustainable health system infrastructure for resuscitation. Multidisciplinary teams from all 31 provinces and municipal states disseminated NRP in a train-the-trainer cascade. The intervention targeted 20 provinces with high neonatal mortality and programs to reduce maternal mortality. Program evaluation data came from 322 representative hospitals in those provinces.
RESULTSChanges in policy permitted midwives to initiate resuscitation and required resuscitation training for licensure. From 2004 through 2009 more than 110,659 professionals received NRP training in the 20 target provinces, with 94% of delivery facilities and 99% of counties reached. Intrapartum-related deaths in the delivery room decreased from 7.5 to 3.4 per 10,000 from 2003 to 2008, and the incidence of Apgar ≤ 7 at 1 minute decreased from 6.3% to 2.9%.
CONCLUSIONSThe Chinese NRP achieved policy changes promoting resuscitation, trained large numbers of professionals, and contributed to reduction in delivery room mortality. Improved adherence to the resuscitation algorithm, extension of training to the township level, and coverage of births now occurring outside health facilities can further increase the number of lives saved.
Asphyxia Neonatorum ; epidemiology ; mortality ; China ; Clinical Competence ; Humans ; Infant Mortality ; Infant, Newborn ; Resuscitation ; education ; instrumentation