1.Research progress of genetic research on POIKTMP syndrome.
Hui YANG ; Rong XIANG ; Liangliang FAN
Chinese Journal of Medical Genetics 2026;43(3):228-233
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a rare autosomal dominant genetic disorder. It may also involve many other organ systems, leading to complications such as exocrine pancreatic insufficiency, liver dysfunction, lymphedema, and developmental delay. The FAM111B has been determined as the pathogenic gene associated with POIKTMP syndrome, whose protein product plays a critical role in regulating essential cellular processes including DNA repair and replication, cell cycle progression, apoptosis, nuclear transport, and telomere length maintenance. This article has provided a comprehensive review for the genetic basis of POIKTMP syndrome and its correlation with various phenotypes, which may offer insights for basic research and clinical diagnosis of this disease.
Humans
;
Pulmonary Fibrosis/genetics*
;
Skin Diseases, Genetic/genetics*
2.Mechanism of tannins from Galla chinensis cream in promoting skin wound healing in rats based on FAK/PI3K/Akt/mTOR signaling pathway.
Wen YI ; Zi-Yi YAN ; Meng-Qiong SHI ; Ying ZHANG ; Jie LIU ; Qian YI ; Hai-Ming TANG ; Yi-Wen LIU
China Journal of Chinese Materia Medica 2025;50(2):480-497
This study investigated the effects and action mechanism of tannins from Galla chinensis cream(TGCC) on the skin wound of rat tail. Male Sprague Dawley(SD) rats were randomly divided into a control group, model group, model+low-dose TGCC(50 mg per rat) group, model+high-dose TGCC group(100 mg per rat), and model+TGC+FAK inhibitor(Y15) cream(100 mg+10 mg per rat) group, with 10 rats in each group. After the rat tail skin injury model was successfully constructed, in the treatment group, corresponding drugs were applied to the wound surface, while in the control and model groups, the same amount of cream base as the TGCC group was applied by the same method. Then, sterile gauze was wrapped around the wound edge, and these operations were performed three times a day for 28 consecutive days. The wound healing status at the third, seventh, eleventh, fourteenth, twenty-first, and twenty-eighth days was recorded, and the wound healing rate and healing time were calculated. On the day after the last dose of medication, rat serum and tail skin wound tissue were collected for analyzing the activities of serum alanine aminotransferase(ALT), aspartate aminotransferase(AST), creatinine(CREA), urea, reactive oxygen species(ROS), interferon gamma(IFN-γ), interleukin(IL)-1β, IL-6, IL-4, IL-10, tumor necrosis factor(TNF)-α, as well as catalase(CAT), glutathione(GSH), lactate dehydrogenase(LDH), malondialdehyde(MDA), myeloperoxidase(MPO), superoxide dismutase(SOD), total antioxidant capacity(T-AOC), platelet endothelial cell adhesion molecule-1(CD31), and leukocyte differentiation antigen 34(CD34) in the wound tissue of rat tail skin. Hematoxylin-eosin, Masson, and sirius red staining were used to observe the morphological changes in the wound tissue of rat tail skin. The thickness of the epidermis, the number of fibroblasts and blood vessels, and the contents of collagen fibers, typeⅠ collagen(COLⅠ), and COLⅢ were calculated. The mRNA expressions of keratin 10(KRT10), KRT14, vascular endothelial growth factor(VEGF), fibroblast growth factor(FGF), epidermal growth factor(EGF), CD31, CD34, matrix metallopeptidase-2(MMP-2), MMP-9, COLⅠ, COLⅢ, desmin, fibroblast specific protein 1(FSP1), IFN-γ, IL-1β, TNF-α, IL-4, IL-6, and IL-10 in skin wound tissue were determined by quantitative real-time polymerase chain reaction(PCR). Western blot was utilized to detect the protein expressions of KRT10, KRT14, VEGF, FGF, EGF, MMP-2, MMP-9, COLⅠ, COLⅢ, desmin, FSP1, focal adhesion kinase(FAK), phosphorylated focal adhesion kinase(p-FAK), phosphatidylin-ositol-3-kinase(PI3K), phosphorylated phosphatidylin-ositol-3-kinase(p-PI3K), protein kinase B(Akt), phosphorylated protein kinase B(p-Akt), mammalian target of rapamycin(mTOR), and phosphorylated mammalian target of rapamycin(p-mTOR). The results manifest that TGCC can dramatically elevate the healing rate of rat tail wounds and shorten wound healing time. Besides, it can reduce serum ROS levels, the contents of MDA, MPO, and LDH in the rat skin wound tissue, as well as the serum IFN-γ, IL-1β, IL-6, and TNF-α levels and the mRNA expression levels of IFN-γ, IL-1β, IL-6, and TNF-α in the skin wound tissue. It can elevate the activities of CAT, GSH, SOD, and T-AOC in wound tissue, the IL-4 and IL-10 contents in serum, and the mRNA expressions of IL-4 and IL-10 in the wound tissue. In addition, TGGC can inhibit inflammatory cell infiltration and increase the epidermal thickness, counts of fibroblasts and blood vessels, and contents of collagen fibers, COLⅠ, and COLⅢ. Besides, TGCC can elevate the mRNA and protein expressions of epidermal differentiation markers(KRT10 and KRT14), endothelial cell markers(CD31 and CD34), angiogenesis and fibroblast proliferation, differentiation markers(VEGF, FGF, EGF, COLⅠ, COLⅢ, desmin, and FSP1), reduce the mRNA and protein expressions of gelatinases(MMP-2 and MMP-9), and increase protein expressions of p-FAK, p-PI3K, p-Akt, p-mTOR, as well as ratios of p-FAK/FAK, p-PI3K/PI3K, p-Akt/Akt, and p-mTOR/mTOR. These results suggest that TGCC can significantly facilitate skin wound healing, and its mechanism may be related to the activation of the FAK/PI3K/Akt/mTOR signaling pathway, inhibition of inflammatory cell infiltration in skin wound tissue, elevation of epidermal thickness, counts of fibroblasts and vessels, and contents of collagen fiber, COLⅠ, and COLⅢ, and reduction of MMP-2 and MMP-9 expressions, thus accelerating wound healing.
Animals
;
Male
;
Wound Healing/drug effects*
;
Rats
;
Rats, Sprague-Dawley
;
Signal Transduction/drug effects*
;
TOR Serine-Threonine Kinases/genetics*
;
Phosphatidylinositol 3-Kinases/genetics*
;
Skin/metabolism*
;
Proto-Oncogene Proteins c-akt/genetics*
;
Tannins/pharmacology*
;
Humans
;
Drugs, Chinese Herbal/administration & dosage*
;
Focal Adhesion Kinase 1/genetics*
4.Perceptions of teledermatology in the COVID-19 era: are patients ready for it?
Dawn Ai Qun OH ; Yi Wei YEO ; Shiu Ming PANG ; Choon Chiat OH ; Haur Yueh LEE ; Karen Jui Lin CHOO
Singapore medical journal 2025;66(12):640-644
INTRODUCTION:
The COVID-19 pandemic has changed care provision models, with a rapid increase in the adoption of telemedicine to reduce in-person visits. Although there are many benefits to teledermatology, there are also factors that hinder its widespread adoption. We aimed to examine patients' perceptions of teledermatology to identify the barriers to its adoption.
METHODS:
A prospective study was conducted from 15 June to 14 August 2020. Patients were invited to complete a questionnaire in an outpatient dermatology clinic via direct approach by clinical staff or posters posted at the door of consultation rooms.
RESULTS:
Out of 2,276 clinic attendances, 997 survey responses (43.8%) were collected over a 3-month period. When asked if they would change their subsequent visit to teledermatology, 294 (29.5%) patients were keen, 166 (16.6%) were unsure and 537 (53.9%) declined. Significant factors for declining teledermatology were lack of prior exposure to videoconferencing ( P < 0.01) and lower educational level ( P = 0.019). Patients also raised concerns regarding the ability of teledermatology to address medical concerns (32.1%) and indicated a preference for face-to-face consultation (29.7%).
CONCLUSION
Factors that influence patients' decision to adopt teledermatology, such as concerns about its ability to address medical issues, lack of IT literacy or experience in teleconferencing, are modifiable. Targeted strategies such as careful patient selection, a dedicated teleconsultation workflow, and the use of a novel 'teledermatology patient journey' (including a clinic walkthrough at the first visit) and an intuitive audio-enabled user interface, may improve patient perceptions and adoption of teleconsultation service.
Humans
;
COVID-19/epidemiology*
;
Dermatology/methods*
;
Telemedicine
;
Male
;
Female
;
Prospective Studies
;
Middle Aged
;
Adult
;
Surveys and Questionnaires
;
SARS-CoV-2
;
Aged
;
Perception
;
Young Adult
;
Pandemics
;
Skin Diseases/diagnosis*
;
Videoconferencing
5.Stuck acupuncture combined with facial acupuncture for 22 cases of facial cosmetology.
Menghan LI ; Yuan ZHANG ; Dawei RAN ; Xinming YANG ; Jingyi LI
Chinese Acupuncture & Moxibustion 2025;45(1):41-44
OBJECTIVE:
To observe the clinical efficacy of stuck acupuncture combined with facial acupuncture for facial cosmetology.
METHODS:
A total of 22 female patients with symptoms of facial aging were treated with stuck acupuncture combined with facial acupuncture. Stuck acupuncture was applied at bilateral Taiyang (EX-HN5) through Xiaguan (ST7), Jiache (ST6) through Daying (ST5) and Yingxiang (LI20),once a week. Facial acupuncture was applied at Yintang (GV24+), ashi points (nasolabial fold) and bilateral Yangbai (GB14), Quanliao (SI18), Sibai (ST2), Xiaguan (ST7), Dicang (ST4), Jiache (ST6), Daying (ST5), Renying (ST9), twice a week. Four weeks were required. The global aesthetic improvement scale (GAIS) score after treatment, wrinkle severity rating scale (WSRS) score before and after treatment were observed. The quantitative analysis of skin characteristics was performed before and after treatment.
RESULTS:
After treatment, of the 22 patients, 3 cases had complete improvement, 15 cases had obvious improvement, 4 cases had partial improvement, 0 case had no improvement. The WSRS score and scores of wrinkles, textures and pores were decreased compared with those before treatment (P<0.01).
CONCLUSION
Stuck acupuncture combined with facial acupuncture could effectively improve the symptoms of facial aging.
Humans
;
Female
;
Acupuncture Therapy
;
Middle Aged
;
Adult
;
Face
;
Acupuncture Points
;
Skin Aging
;
Treatment Outcome
;
Aged
6.Correlation between the skin surface temperature at the related back-shu points and the pulmonary ventilation function in patients with chronic persistent asthma based on the theory of "lung governing the skin and hair".
Shaoqian ZHAO ; Mengyu FU ; Nanxin HUANG ; Jipeng ZHOU ; Jinglin HUANG ; Wei LIU ; Hesheng WANG ; Lanying LIU
Chinese Acupuncture & Moxibustion 2025;45(3):274-279
OBJECTIVE:
To observe the skin surface temperature at the related back-shu points in the patients with the different levels of pulmonary ventilation function in chronic persistent asthma, and to explore the correlation between the skin temperature at the back-shu points and pulmonary ventilation function indexes based on "lung governing the skin and hair".
METHODS:
Sixty-one patients with chronic persistent asthma, based on the level of pulmonary ventilation function, were assigned into a reduced pulmonary ventilation function group (reduced function group, 32 cases) and a normal pulmonary ventilation function group (normal function group, 29 cases). In the two groups, the skin surface temperature was measured in the sites of bilateral Feishu (BL13), Geshu (BL17), Pishu (BL20) and Shenshu (BL23); and the pulmonary ventilation function indexes (the percentage of predicted value of forced vital capacity [FVC%pred], the percentage of predicted value of forced expiratory volume in the first second [FEV1%pred], the percentage of predicted value of FEV1/FVC [FEV1/FVC%pred] and the percentage of predicted value of the peak expiratory flow [PEF%pred]) were recorded. The correlation between the skin surface temperature of acupoints and pulmonary ventilation function was analyzed.
RESULTS:
Compared with the normal function group, the surface skin temperature at the bilateral Feishu (BL13), Geshu (BL17), Pishu (BL20) and Shenshu (BL23) was higher in the reduced function group (P<0.05, P<0.01). Compared with the normal function group, FEV1%pred, FEV1/FVC%pred and PEF%pred were decreased in the reduced function group (P<0.001). There was no significant difference in FVC%pred between the two groups (P>0.05). The skin surface temperature at the bilateral Feishu (BL13), Geshu (BL17), Pishu (BL20) and Shenshu (BL23) was negatively correlated with FVC%pred, FEV1%pred, FEV1/FVC%pred and PEF%pred in 61 patients with chronic persistent asthma (P<0.001, P<0.01, P<0.05).
CONCLUSION
The skin surface temperature at back-shu points is elevated in line with the the decline of pulmonary ventilation function in the patients with chronic persistent asthma, presenting a negative correlation with pulmonary ventilation function indexes. It is preliminarily verified that back-shu point is characterized by reflecting the visceral disorders.
Humans
;
Female
;
Male
;
Asthma/therapy*
;
Middle Aged
;
Adult
;
Skin Temperature
;
Lung/physiopathology*
;
Acupuncture Points
;
Pulmonary Ventilation
;
Aged
;
Chronic Disease/therapy*
;
Young Adult
;
Hair
7.Exploring the approach of acupuncture treatment for facial aging based on the theory of five-body constituents.
Menghan LI ; Jingyi LI ; Yang GUO ; Dawei RAN ; Xinming YANG ; Jiangwei SHI
Chinese Acupuncture & Moxibustion 2025;45(6):766-769
Based on the theory of the five-body constituents from Huangdi Neijing (Yellow Emperor's Internal Classic), the approach and methods of acupuncture for facial aging are explored. Acupuncture for facial aging can be guided by the concept of the five-body constituents, targeting the facial "skin, flesh, vessels, tendons, and bones", and utilizing five different types of needles-facial needles, needle knives, filiform needles, retaining needles, and elongated needles and filiform needles-to maximize their respective advantages in treating facial aging. Facial needles are applied to the "skin" by selecting facial acupoints or local ashi points (at wrinkle or pigmentation sites). Needle knives are used for the "flesh" to perform longitudinal dredging and transverse dissection of the facial muscle layers. Filiform needles target the "vessels" with needling at Renying (ST9) to improve facial complexion. Retaining needles act on the "tendons" with needling from Taiyang (EX-HN5) to Xiaguan (ST7), and Jiache (ST6) to Daying (ST5), using clockwise twisting to generate a retaining needle sensation and lifting to achieve an overall facial lifting effect.
Humans
;
Acupuncture Therapy/methods*
;
Face
;
Skin Aging
;
Acupuncture Points
;
Aging
8.Case of stiff skin syndrome treated with acupuncture and cupping therapy.
Chinese Acupuncture & Moxibustion 2025;45(7):982-984
Stiff skin syndrome is a very rare non-inflammatory reactive skin disease, characterized by skin sclerosis and limited joint mobility. The paper reports one case of child with stiff skin syndrome and treated with combined therapy of acupuncture and cupping. Acupuncture was used at the lateral line 1 of vertex (MS8) on the right side, Jiaji (EX-B2) of L2 to L4, Huantiao (GB30), ashi point, Juliao (GB29), Fengshi (GB31), Weizhong (BL40), and etc. on the left side. After deqi, the electrodes of KWD-808Ⅰimpulse electronic therapeutic device were attached to Jiaji (EX-B2) of L4 and Huantiao (GB30), Fengshi (GB31) and Yanglingquan (GB34) on the left side respectively, at disperse-dense wave, a frequency of 2 Hz/100 Hz, and a current of 2 mA. The needles were retained for 20 min. Acupuncture was operated once every 2 days, 3 interventions a week. When acupuncture was completed in each intervention, moving cupping was followed till the skin turned to be red, along the distribution of the governor vessel, foot-shaoyang gallbladder meridian and foot-taiyang bladder meridian on the left side, of the lumbar region and leg. Moving cupping was delivered once every 2 days, 3 times a week. Once a week, after moving cupping, the cups were retained on the areas with skin stiffness for 8 min to 10 min. One course of the combined therapy of acupuncture and cupping was composed of 6 treatments. After 2 courses of treatment, the skin stiffness on the left buttock region and the lateral side of the lower limb was ameliorated, the swelling on the left lower limb relieved and the walking improved; and the patient could walk continuously for 2 000 m. The combined therapy of acupuncture and cupping provides a new idea for the clinical treatment of stiff skin syndrome.
Child
;
Humans
;
Acupuncture Points
;
Acupuncture Therapy
;
Contracture/therapy*
;
Cupping Therapy
;
Skin Diseases, Genetic/therapy*
9.Regulatory effects of moxibustion at "Guanyuan" (CV4) on extragonadal estrogen and estrogen receptors in ovariectomized rats.
Qingchen ZHOU ; Xinyan GAO ; Kun LIU ; Bing ZHU
Chinese Acupuncture & Moxibustion 2025;45(12):1770-1776
OBJECTIVE:
To observe the regulatory effects of moxibustion at "Guanyuan" (CV4) on the synthesis of extragonadal estradiol (E2) and the expression of estrogen receptor (ER) in ovariectomized rats, aiming to explore the mechanism of moxibustion treatment for perimenopausal syndrome.
METHODS:
Forty-eight SD female rats of SPF grade were randomly divided into a sham-operation group, a model group and a moxibustion group, with 16 rats in each group. The model group and the moxibustion group underwent bilateral ovariectomy by the back incision method. Ten days after surgery, moxibustion was applied at "Guanyuan" (CV4) in the moxibustion group, 30 min each time, once a day for 10 days. After intervention, in the 3 groups, the body mass and uterus weight were measured; the serum levels of follicle stimulating hormone (FSH), luteinizing hormone (LH) and E2, as well as the skin and hypothalamus levels of E2 were detected by ELISA; the mRNA expression of aromatase (P450arom) in the skin and hypothalamus was detected by real-time PCR; the expression of ERα and ERβ in the hypothalamus, skin, and uterus was observed by immunofluorescence staining, and the density of positive cells was calculated using the Aipathwell digital pathology image analysis software.
RESULTS:
Compared with the sham-operation group, the body mass was increased (P<0.01) and the uterus weight was decreased (P<0.001) in the model group. Compared with the model group, the body mass was decreased in the moxibustion group (P<0.01). Compared with the sham-operation group, in the model group, the serum, hypothalamus and skin levels of E2 were decreased (P<0.01, P<0.05), while the serum levels of FSH and LH were increased (P<0.01); the expression of ERα and ERβ in the skin, hypothalamus and uterus was decreased (P<0.05, P<0.001). Compared with the model group, in the moxibustion group, the serum levels of E2 and LH, as well as the hypothalamus and skin levels of E2 were increased (P<0.05, P<0.01); the mRNA expression of P450arom, as well as the expression of ERα and ERβ in the skin and hypothalamus were increased (P<0.05).
CONCLUSION
Moxibustion at "Guanyuan" (CV4) reduces the body mass of ovariectomized rats by enhancing the synthesis of extragonadal E2 and increasing the expression of ER in the skin and hypothalamus, yet it does not alleviate uterine atrophy.
Animals
;
Female
;
Moxibustion
;
Rats
;
Ovariectomy
;
Acupuncture Points
;
Rats, Sprague-Dawley
;
Humans
;
Receptors, Estrogen/genetics*
;
Estrogens/metabolism*
;
Estradiol/metabolism*
;
Hypothalamus/metabolism*
;
Follicle Stimulating Hormone/blood*
;
Aromatase/genetics*
;
Luteinizing Hormone/blood*
;
Skin/metabolism*
10.Tapping with plum-blossom needle combined with sulfur ointment and local irradiation for primary cutaneous amyloidosis: a case report.
Fasen DENG ; Xiao CHEN ; Weijuan ZHENG ; Ziyang HE ; Xinsheng CHEN
Chinese Acupuncture & Moxibustion 2025;45(12):1800-1802
The paper reports one case of primary cutaneous amyloidosis (PCA) treated by tapping with plum-blossom needle combined with sulfur ointment and local irradiation. PCA in this case was manifested as generalized erythema, papules, plaques, lichenification, and severe pruritus. In treatment, tapping with plum-blossom needle was delivered at typical lesions to induce local congestion, redness, and minimal bleeding. After cleaned with sterile gauze for 10 s, 25% sulfur ointment was evenly applied, followed by local irradiation with a TDP lamp for 15 min. This session was repeated twice a week. In 1 month of treatment, the lesions turned flat and the skin was soft as the normal, with pigmentation and mild pruritus left. In 3 months of follow-up, no papules recurred, and mild pruritus presented occasionally.
Humans
;
Ointments/administration & dosage*
;
Sulfur/administration & dosage*
;
Skin Diseases, Genetic/radiotherapy*
;
Middle Aged
;
Amyloidosis, Familial/radiotherapy*
;
Male
;
Acupuncture Therapy/instrumentation*
;
Female
;
Combined Modality Therapy


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