1.Bullous presentation of Acrodermatitis Enteropathica in three female siblings: A case series
Katherine Joy B. Sayo-Aguiling ; Abelaine Venida-Tablizo ; Melanie Joy D. Ruiz
Journal of the Philippine Medical Association 2024;102(2):95-104
Acrodermatitis enteropathica is a rare autosomal
recessive disease that results from a defect in zinc
metabolism. It is clinically characterized by a
phenotypic triad of periorificial and acral
dermatitis, diarrhea, and alopecia. Oral zinc
therapy gives a rapid excellent clinical response
and reduces mortality. We report three female
pediatric siblings who presented with periorificial
and acral dermatitis, diffuse alopecia, nail
dystrophy, irritable mood, and stunted growth. A
diagnosis of acrodermatitis enteropathicawas
confirmed with markedly decreased levels of
serum zinc. The patients were successfully treated
with oral zinc sulfate at a dose of 5mg/kg/day for
the first two weeks then maintained on a dose at
2mg/kg/day.
Zinc
;
Blister
2.Divergent chondro/osteogenic transduction laws of fibrocartilage stem cell drive temporomandibular joint osteoarthritis in growing mice.
Ruiye BI ; Qianli LI ; Haohan LI ; Peng WANG ; Han FANG ; Xianni YANG ; Yiru WANG ; Yi HOU ; Binbin YING ; Songsong ZHU
International Journal of Oral Science 2023;15(1):36-36
The anterior disc displacement (ADD) leads to temporomandibular joint osteoarthritis (TMJOA) and mandibular growth retardation in adolescents. To investigate the potential functional role of fibrocartilage stem cells (FCSCs) during the process, a surgical ADD-TMJOA mouse model was established. From 1 week after model generation, ADD mice exhibited aggravated mandibular growth retardation with osteoarthritis (OA)-like joint cartilage degeneration, manifesting with impaired chondrogenic differentiation and loss of subchondral bone homeostasis. Lineage tracing using Gli1-CreER+; Tmfl/-mice and Sox9-CreER+;Tmfl/-mice showed that ADD interfered with the chondrogenic capacity of Gli1+ FCSCs as well as osteogenic differentiation of Sox9+ lineage, mainly in the middle zone of TMJ cartilage. Then, a surgically induced disc reposition (DR) mouse model was generated. The inhibited FCSCs capacity was significantly alleviated by DR treatment in ADD mice. And both the ADD mice and adolescent ADD patients had significantly relieved OA phenotype and improved condylar growth after DR treatment. In conclusion, ADD-TMJOA leads to impaired chondrogenic progenitor capacity and osteogenesis differentiation of FCSCs lineage, resulting in cartilage degeneration and loss of subchondral bone homeostasis, finally causing TMJ growth retardation. DR at an early stage could significantly alleviate cartilage degeneration and restore TMJ cartilage growth potential.
Animals
;
Mice
;
Osteogenesis
;
Zinc Finger Protein GLI1
;
Fibrocartilage
;
Temporomandibular Joint
;
Disease Models, Animal
;
Osteoarthritis
;
Stem Cells
;
Growth Disorders
3.Effect of VIT1/VIT2 overexpression on Fe and Cd accumulation in rice endosperm.
Yiqi HE ; Dong LIU ; Yujiao SHI ; Bao GUO ; Lin ZHOU ; Jinsong LUO ; Zhenhua ZHANG
Chinese Journal of Biotechnology 2023;39(2):713-723
Iron (Fe) deficiency and excess cadmium (Cd) in rice grain are important problems to be solved in agricultural production. Previous studies have shown that OsVIT1 and OsVIT2 are vacuolar iron transporters. In this study, wild-type ZH11 was selected as the background material and OsVIT1 and OsVIT2 were overexpressed in endosperm by using endosperm specific promoter Glb-1. Field experiments were conducted to study the effect of OsVIT1 and OsVIT2 overexpression on Fe and Cd accumulation in different parts of rice. The results showed that OsVIT1 overexpression in endosperm significantly reduced Fe content in grain by about 50%, while significantly increased zinc (Zn) and copper (Cu) contents in straw and Cu content in grain. OsVIT2 overexpression in endosperm significantly decreased Fe and Cd contents in grain by about 50%, and significantly increased Fe content in straw by 45%-120%. Overexpression of OsVIT1 and OsVIT2 in endosperm did not affect the agronomic traits of rice. In conclusion, OsVIT1 and OsVIT2 overexpression in endosperm reduced Fe accumulation in rice grain, which did not achieve the expected effect. OsVIT2 overexpression in endosperm also decreased Cd accumulation in grain and increased Fe accumulation in straw, which provided reference for iron biofortification and cadmium reduction in rice.
Cadmium
;
Endosperm/chemistry*
;
Oryza/genetics*
;
Iron
;
Zinc
;
Edible Grain
;
Soil Pollutants
4.The toxicity of ZnO and CuO nanoparticles on biological wastewater treatment and its detoxification: a review.
Yuran YANG ; Can ZHANG ; Zhenlun LI
Chinese Journal of Biotechnology 2023;39(3):1026-1039
The wide use of ZnO and CuO nanoparticles in research, medicine, industry, and other fields has raised concerns about their biosafety. It is therefore unavoidable to be discharged into the sewage treatment system. Due to the unique physical and chemical properties of ZnO NPs and CuO NPs, it may be toxic to the members of the microbial community and their growth and metabolism, which in turn affects the stable operation of sewage nitrogen removal. This study summarizes the toxicity mechanism of two typical metal oxide nanoparticles (ZnO NPs and CuO NPs) to nitrogen removal microorganisms in sewage treatment systems. Furthermore, the factors affecting the cytotoxicity of metal oxide nanoparticles (MONPs) are summarized. This review aims to provide a theoretical basis and support for the future mitigating and emergent treatment of the adverse effects of nanoparticles on sewage treatment systems.
Wastewater/toxicity*
;
Sewage/chemistry*
;
Zinc Oxide/chemistry*
;
Waste Disposal, Fluid
;
Nanoparticles/chemistry*
;
Metal Nanoparticles/chemistry*
;
Nitrogen/metabolism*
;
Water Purification
5.Analysis of variant of GLI3 gene in a child featuring autosomal dominant Pallister-Hall syndrome.
Xinwei HOU ; Jianjun WANG ; Yi LU ; Daiyue YU ; Jiaming YANG ; Nan LI ; Huirong YANG ; Kai WU
Chinese Journal of Medical Genetics 2023;40(1):92-95
OBJECTIVE:
To explore the clinical and genetic characteristics of a child with Pallister-Hall syndrome (PHS).
METHODS:
DNA was extracted from peripheral blood sample from the child and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members.
RESULTS:
Genetic testing revealed that the child has harbored a heterozygous c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) variant of the GLI3 gene. Neither parent was found to carry the same variant.
CONCLUSION
The c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) frameshift variant of the GLI3 gene probably underlay the pathogenesis of PHS in this child. Genetic testing should be considered for patients featuring hypothalamic hamartoma and central polydactyly.
Humans
;
Child
;
Pallister-Hall Syndrome/genetics*
;
Kruppel-Like Transcription Factors/genetics*
;
Zinc Finger Protein Gli3/genetics*
;
Polydactyly/genetics*
;
Hamartoma/pathology*
;
Nerve Tissue Proteins/genetics*
6.Clinical and genetic analysis of a child with Culler-Jones syndrome due to variant of GLI2 gene.
Yanshi FAN ; Shuxia DING ; Junhua WU ; Haiyan QIU
Chinese Journal of Medical Genetics 2023;40(2):217-221
OBJECTIVE:
To explore the genetic basis for a child featuring short stature and postaxial polydactyly.
METHODS:
A child who presented at Ningbo Women & Children's Hospital in May 2021 due to the"discovery of growth retardation for more than two years" was selected as the subject. Peripheral blood samples of the child and his parents were collected for the extraction of genomic DNA. Whole exome sequencing was carried out for the child, and candidate variant was verified by Sanger sequencing of his family members.
RESULTS:
The child was found to harbor a heterozygous c.3670C>T (p.Q1224) variant of the GLI2 gene, which may lead to premature termination of protein translation. The variant was not detected in either parent.
CONCLUSION
The child was diagnosed with Culler-Jones syndrome. The c.3670C>T (p.Q1224*) variant of the GLI2 gene probably underlay the disease in this child.
Child
;
Female
;
Humans
;
Fingers
;
Mutation
;
Nuclear Proteins/genetics*
;
Polydactyly/genetics*
;
Toes
;
Zinc Finger Protein Gli2/genetics*
7.J-shaped association between dietary zinc intake and new-onset hypertension: a nationwide cohort study in China.
Panpan HE ; Huan LI ; Mengyi LIU ; Zhuxian ZHANG ; Yuanyuan ZHANG ; Chun ZHOU ; Ziliang YE ; Qimeng WU ; Min LIANG ; Jianping JIANG ; Guobao WANG ; Jing NIE ; Fan Fan HOU ; Chengzhang LIU ; Xianhui QIN
Frontiers of Medicine 2023;17(1):156-164
We aimed to investigate the relationship of dietary zinc intake with new-onset hypertension among Chinese adults. A total of 12,177 participants who were free of hypertension at baseline from the China Health and Nutrition Survey were included. Dietary intake was assessed by three consecutive 24-h dietary recalls combined with a household food inventory. Participants with systolic blood pressure ≽ 140 mmHg or diastolic blood pressure ≽ 90 mmHg or diagnosed by a physician or under antihypertensive treatment during the follow-up were defined as having new-onset hypertension. During a median follow-up duration of 6.1 years, 4269 participants developed new-onset hypertension. Overall, the association between dietary zinc intake and new-onset hypertension followed a J-shape (P for non-linearity < 0.001). The risk of new-onset hypertension significantly decreased with the increment of dietary zinc intake (per mg/day: hazard ratio (HR) 0.93; 95% confidence interval (CI) 0.88-0.98) in participants with zinc intake < 10.9 mg/day, and increased with the increment of zinc intake (per mg/day: HR 1.14; 95% CI 1.11-1.16) in participants with zinc intake ≽ 10.9 mg/day. In conclusion, there was a J-shaped association between dietary zinc intake and new-onset hypertension in general Chinese adults, with an inflection point at about 10.9 mg/day.
Adult
;
Humans
;
Cohort Studies
;
Zinc
;
Diet
;
Hypertension/epidemiology*
;
Eating
;
China/epidemiology*
8.Preparation, properties and antibacterial applications of medical nano-metals and their oxides: a review.
Jiasheng ZUO ; Ying QIN ; Zuzhen ZHAO ; Lu XING ; Tian LIU ; Song WANG ; Weiqiang LIU
Chinese Journal of Biotechnology 2023;39(4):1462-1476
Antibiotics are playing an increasingly important role in clinical antibacterial applications. However, their abuse has also brought toxic and side effects, drug-resistant pathogens, decreased immunity and other problems. New antibacterial schemes in clinic are urgently needed. In recent years, nano-metals and their oxides have attracted wide attention due to their broad-spectrum antibacterial activity. Nano-silver, nano-copper, nano-zinc and their oxides are gradually applied in biomedical field. In this study, the classification and basic properties of nano-metallic materials such as conductivity, superplasticity, catalysis, and antibacterial activities were firstly introduced. Secondly, the common preparation techniques, including physical, chemical and biological methods, were summarized. Subsequently, four main antibacterial mechanisms, such as cell membrane, oxidative stress, DNA destruction and cell respiration reduction, were summarized. Finally, the effect of size, shape, concentration and surface chemical characteristics of nano-metals and their oxides on antibacterial effectiveness and the research status of biological safety such as cytotoxicity, genotoxicity and reproductive toxicity were reviewed. At present, although nano-metals and their oxides have been applied in medical antibacterial, cancer treatment and other clinical fields, some issues such as the development of green preparation technology, the understanding of antibacterial mechanism, the improvement of biosafety, and the expansion of application fields, require further exploration.
Oxides/chemistry*
;
Metal Nanoparticles/chemistry*
;
Anti-Bacterial Agents/chemistry*
;
Zinc
;
Copper
9.Research status and development of biodegradable zinc alloy as orthopedics implant.
Tianwei ZHANG ; Yuchen LIU ; Weidan WANG ; Dewei ZHAO
Journal of Biomedical Engineering 2023;40(3):589-594
Znic (Zn) alloys with good cytocompatibility and suitable degradation rate have been a kind of biodegradable metal with great potential for clinical applications. This paper summarizes the biological role of degradable Zn alloy as bone implant materials, discusses the mechanical properties of different Zn alloys and their advantages and disadvantages as bone implant materials, and analyzes the influence of different processing strategies (such as alloying and additive manufacturing) on the mechanical properties of Zn alloys. This paper provides systematic design approaches for biodegradable Zn alloys as bone implant materials in terms of the material selection, product processing, structural topology optimization, and assesses their application prospects with a view to better serve the clinic.
Orthopedics
;
Zinc
;
Alloys
;
Dental Materials
;
Prostheses and Implants
10.Relationship between trace elements in synovial fluid and cartilage and severity of knee osteoarthritis.
Yongshi LI ; Hong CHEN ; Ping MOU ; Bangjie SUN ; Yi ZENG ; Jing YANG
Chinese Journal of Reparative and Reconstructive Surgery 2023;37(5):584-588
OBJECTIVE:
To investigate the relationship between trace elements in synovial fluid and cartilage and severity of knee osteoarthritis (KOA).
METHODS:
Patients with KOA who underwent knee arthrocentesis or total knee arthroplasty (TKA) were recruited based on inclusion criteria between June 2021 and December 2021. Synovial fluid samples were obtained during knee arthrocentesis and TKA, and participants were divided into the mild group (grading Ⅰ/Ⅱ) and the severe group (grading Ⅲ/Ⅳ) according to the Kellgren-Lawrence grading (K-L grading). Cartilage samples with different degrees of wear were collected during the TKA from the same patient and were divided into mild wear (0-1 point) and severe wear (2-4 points) groups based on the Pelletier score. The contents of copper (Cu), zinc (Zn), and manganese (Mn) in synovial fluid and cartilage were evaluated by inductively coupled plasma mass spectrometry, and the differences between groups were compared.
RESULTS:
A total of 33 synovial fluid samples were collected, including 19 specimens from 14 patients who underwent knee arthrocentesis of mild group, with 5 bilateral sides knee arthrocentesis in them, and 14 specimens from 14 TKA patients of severe group. The patients were significantly younger in the mild group than in the severe group ( P<0.05), but there was no significant difference in gender or body mass index between the two groups ( P>0.05). Nineteen pairs of cartilage samples with mild and severe wear were collected from severe KOA patients (K-L grading Ⅲ and Ⅳ), including 9 males and 10 females, with an average age of 70.4 years (range, 58-80 years). The body mass index ranged from 21.2 to 30.7 kg/m 2, with an average of 25.6 kg/m 2. The content of Zn in synovial fluid and cartilage from KOA patients was the highest, followed by Cu, and Mn was the lowest. The Cu content in synovial fluid was significantly higher in the severe group than in the mild group ( P<0.05), and in the severe wear group than in the mild wear group ( P<0.05). There was no significant difference in Zn and Mn content between the two groups ( P>0.05).
CONCLUSION
The Cu content increases with the severity of cartilage wear in patients with KOA.
Male
;
Female
;
Humans
;
Aged
;
Osteoarthritis, Knee/surgery*
;
Synovial Fluid
;
Trace Elements
;
Knee Joint/surgery*
;
Cartilage, Articular
;
Zinc


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