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.Bullous hemorrhagic dermatosis in a 65-year-old Filipino woman secondary to enoxaparin: A case report.
Acta Medica Philippina 2026;60(1):92-95
Bullous hemorrhagic dermatosis (BHD) is a rare cutaneous manifestation characterized by tense hemorrhagic bullae that appear at sites distant from low molecular weight heparin (LMWH) injections, typically within seven days of exposure. As of March 2022, only 94 cases have been reported. It most commonly affects elderly males with predisposing factors for thromboembolism, such as carcinoma, and usually involves the extremities.
This case highlights the importance of maintaining a high index of suspicion for bullous hemorrhagic dermatosis (BHD) in patients receiving low molecular weight heparin, even beyond the typical 7-day window and in demographics not commonly affected. Early recognition and prompt discontinuation of the offending agent, as demonstrated in this atypical presentation involving a Filipino elderly woman with multiple comorbidities and no malignancy, can lead to favorable outcomes. Clinicians should be aware of this rare but reversible complication to avoid misdiagnosis and ensure appropriate management.
Human ; Female ; Aged: 65-79 Yrs Old ; Affect ; Aged ; Blister ; Carcinoma ; Causality ; Demography ; Diagnostic Errors ; Enoxaparin ; Extremities ; Heparin ; Heparin, Low-molecular-weight ; Index ; Injections ; Lead ; Male ; Molecular Weight ; Neoplasms ; Patients ; Research Report ; Skin Diseases ; Thromboembolism ; Women
3.Inefficacy of neck cooling in suppressing core body temperature elevation during exercise in a hot environment: a randomized cross-over trial.
Kotaro ISHIZUKA ; Chikage NAGANO ; Mai TOGAWA ; Kentaro KADO ; Keiichi TAJIMA ; Kimiyo MORI ; Seichi HORIE
Environmental Health and Preventive Medicine 2025;30():60-60
BACKGROUND:
Neck cooling is a practical method for preventing heat-related illness, however, its effectiveness in general workers is not well established. This study aimed to assess the effects of neck cooling on core body temperature and other physiological markers during exercise in a hot environment.
METHODS:
This randomized crossover trial was conducted from November 2023 to April 2024 at the Shared-Use Research Center at UOEH. Fourteen healthy adult males participated in the study under two conditions: with neck cooling (COOL) and without neck cooling (CON). All participants completed both conditions, and the order of condition assignment was determined by a random draw. Participants first rested for 10 minutes in a 28.0 °C, 50% relative humidity environment, followed by a rest in a 35.0 °C, 50% relative humidity environment for another 10 minutes. In the COOL condition, participants wore a neck cooler containing 1,200 g of ice while exercising at 50% Heart Rate Reserve on a bicycle ergometer for 20 minutes. Afterward, they rested for 15 minutes in the hot environment while still wearing the cooler.
MAIN OUTCOME MEASURES:
Core body temperature (rectal and esophageal), forehead skin temperature, and heart rate were continuously monitored and compared using a mixed model. Estimated sweat volume was calculated based on changes in body weight before and after the experiment.
RESULTS:
At the end of the rest period, no significant differences were observed between the COOL and CON conditions in rectal temperature (37.76 ± 0.18 °C versus 37.75 ± 0.24 °C, p = 0.9493), esophageal temperature (37.75 ± 0.30 °C versus 37.76 ± 0.23 °C, p = 0.7325), forehead skin temperature (36.87 ± 0.29 °C versus 36.88 ± 0.27 °C, p = 0.2160), or heart rate (104.18 ± 7.56 bpm versus 107.52 ± 7.40 bpm, p = 0.1035). Estimated sweat loss was similar between conditions (578 ± 175 g for CON versus 572 ± 242 g for COOL, p = 0.5066). While more participants felt cooler in the COOL condition, RPE showed no significant difference.
CONCLUSION
Neck cooling did not significantly affect core temperature or perceived exertion. Maintaining close contact with the skin at sufficiently low temperatures or utilizing cooling methods that prevent excessive negative feedback may be necessary to enhance the effectiveness of neck cooling.
Humans
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Male
;
Cross-Over Studies
;
Exercise/physiology*
;
Adult
;
Neck/physiology*
;
Hot Temperature/adverse effects*
;
Young Adult
;
Body Temperature
;
Heart Rate
;
Skin Temperature
;
Body Temperature Regulation
;
Cold Temperature
4.Comparison of efficacy and safety of oral mucosa grafts and acellular dermal matrix grafts in the treatment of long-segment urethral stricture.
Wenyuan LENG ; Duan GAO ; Xiaoyu LI ; Wei ZUO ; Weimin HU ; Zhenpeng ZHU ; Chunru XU ; Jian LIN ; Xuesong LI
Journal of Peking University(Health Sciences) 2025;57(5):975-979
OBJECTIVE:
To investigate the differential efficacy and safety profiles of oral mucosa (OM) grafts compared with acellular dermal matrix (ADM) grafts in the surgical management of long-segment urethral strictures.
METHODS:
A retrospective cohort study was conducted involving 27 patients who underwent graft urethroplasty for long-segment urethral strictures in Peking University First Hospital, spanning from May 2010 to September 2023. The patient cohort comprised 14 individuals who received OM grafts and 13 who underwent ADM grafts. The participants were stratified into two groups based on the type of grafts material utilized during surgery. The demographic and clinical baseline characteristics included an average age of (43.3±14.0) years in the OM group and (54.2±15.9) years in the ADM group. The mean body mass index (BMI) for the respective groups were (24.7±4.3) kg/m2 for OM and (25.4±4.8) kg/m2 for ADM. Etiological differences were noted, with idiopathic causes predominantly in the OM cohort and lichen sclerosus in the ADM cohort.
RESULTS:
The surgical interventions were successfully executed for all the patients. The median stricture length was 4.5 (2.5, 9.0) cm for the OM group and 5.0 (2.0, 14.0) cm for the ADM group (P=0.555). The median operative duration was 160 (71, 221) min for the OM group and 134 (112, 274) min for the ADM group (P=0.065). The catheterization durations was 1.5 (1.0, 6.0) months for the OM group and 3.0 (1.0, 3.0) months for the ADM group. The median postoperative follow-up duration was 12.5 (1.0, 170.0) months for the OM group and 59.0 (3.0, 142.0) months for the ADM group. The surgical success rates were 50.00% in the OM group and 53.85% in the ADM group. No statistically significant differences were observed in postoperative quality of life (QoL) or international prostate symptom score (IPSS) at the final follow-up. The stricture-free survival rates did not differ significantly (HR=0.875, 95%CI: 0.507-1.511, P=0.6). In terms of safety, three patients in the OM group experienced sexual dysfunction, and two had oral complications, whereas the ADM group had one case of postoperative infection.
CONCLUSION
The findings suggest that ADM grafts are comparable to OM grafts in terms of efficacy and safety for the treatment of long-segment urethral strictures, including complex cases attributed to lichen sclerosus. However, given the small sample size of this study, the above conclusions may have certain limitations. Larger cohort studies will be needed in the future to further validate these findings.
Humans
;
Urethral Stricture/surgery*
;
Acellular Dermis
;
Mouth Mucosa/transplantation*
;
Retrospective Studies
;
Middle Aged
;
Male
;
Adult
;
Treatment Outcome
;
Skin Transplantation/methods*
;
Aged
5.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
6.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
7.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
8.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
9.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*
10.Salvianolic Acid B Exerts Antiphotoaging Effect on Ultraviolet B-Irradiated Human Keratinocytes by Alleviating Oxidative Stress via SIRT1 Protein.
Qiao-Ju ZHANG ; Xi LUO ; Yu-Wen ZHENG ; Jun-Qiao ZHENG ; Xin-Ying WU ; Shu-Mei WANG ; Jun SHI
Chinese journal of integrative medicine 2025;31(11):1021-1028
OBJECTIVE:
To explore the anti-photoaging properties of salvianolic acid B (Sal B).
METHODS:
The optimal photoaging model of human immortalized keratinocytes (HaCaT cells) were constructed by expose to ultraviolet B (UVB) radiation. The cells were divided into control, model and different concentrations of Sal B groups. Cell viability was measured via cell counting kit-8. Subsequently, the levels of oxidative stress, including reactive oxygen species (ROS), hydroxyproline (Hyp), catalase (CAT), and glutathione peroxidase (GSH-Px) were detected using the relevant kits. Silent information regulator 1 (SIRT1) protein level was detected using Western blot. The binding pattern of Sal B and SIRT1 was determined via molecular docking.
RESULTS:
Sal B significantly increased the viability of UVB-irradiated HaCaT cells (P<0.05 or P<0.01). Sal B effectively scavenged the accumulation of ROS induced by UVB (P<0.05 or P<0.01). In addition, Sal B modulated oxidative stress by increasing the intracellular concentrations of Hyp and CAT and the activity of GSH-Px (P<0.05 or P<0.01). The Western blot results revealed a substantial increase in SIRT1 protein levels following Sal B administration (P<0.05). Moreover, Sal B exhibited good binding affinity toward SIRT1, with a docking energy of -7.5 kCal/mol.
CONCLUSION
Sal B could improve the repair of photodamaged cells by alleviating cellular oxidative stress and regulating the expression of SIRT1 protein.
Humans
;
Sirtuin 1/metabolism*
;
Ultraviolet Rays
;
Oxidative Stress/radiation effects*
;
Keratinocytes/metabolism*
;
Molecular Docking Simulation
;
Benzofurans/pharmacology*
;
Skin Aging/radiation effects*
;
Reactive Oxygen Species/metabolism*
;
Cell Survival/radiation effects*
;
HaCaT Cells
;
Hydroxyproline/metabolism*
;
Glutathione Peroxidase/metabolism*
;
Catalase/metabolism*
;
Depsides


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