OBJECTIVE: To summarize the clinical features and management of two brothers affected with X-linked inhibitor of apoptosis protein (XIAP) deficiency. METHODS: This study retrospectively analyzed the clinical presentations, treatment, and follow-up of two brothers with XIAP deficiency diagnosed at Shanghai Children's Hospital in 2020, and summarized similar cases recorded in databases such as PubMed, Wanfang, Chinese Medical Association Journals, and WIP from January 2006 to November 2024. This study was approved by the Medical Ethics Committee of our hospital (Ethics No.: 2025R128-E01). RESULTS: Patient 1 was the younger brother, who presented at 8 years of age with growth retardation, folliculitis, erythema nodosum, and perineal abscess. Sequencing revealed that he has carried a hemizygous c.566T>C (p.Leu189Pro) variant of the XIAP gene, which was inherited from his mother. He was allergic to infliximab treatment and underwent allogeneic stem cell transplantation (HSCT) in January 2021. During a follow-up of 3 years and 10 months post-transplantation, he showed no gastrointestinal symptoms and had a good outcome. Patient 2 was the elder brother, who presented at 10 years and 6 months of age with growth retardation, rash, and anal fistula. Genetic testing revealed the same variant. He was treated with oral azathioprine but did not have regular follow-ups. At 14-years-and-6-months of age, he had developed severe gastrointestinal infection and hemophagocytic lymphohistiocytosis, which was alleviated after treatment with antibiotics, glucocorticoids, immunoglobulin, and rituximab. He is currently being prepared for HSCT. A total of 13 publications were retrieved, which involved 64 patients from 23 families, with 23 different variants identified. The main clinical manifestations included splenomegaly (34 cases, 53.1%), hemophagocytic lymphohistiocytosis (27 cases, 42.2%), and inflammatory bowel disease or colitis (20 cases, 31.8%). There were significant phenotypic differences among patients from the same family. Thirteen patients (20.3%) underwent HSCT, with a survival rate of 61.5%. CONCLUSION For male children with early onset, poor treatment response, especially those with unexplained splenomegaly and IBD-like symptoms, early genetic testing is recommended. HSCT is a safe and effective treatment for XIAP deficiency. For patients with developmental delay, early onset, and severe IBD phenotype, early transplantation is recommended.
Humans ; Male ; X-Linked Inhibitor of Apoptosis Protein/deficiency* ; Child ; Genetic Diseases, X-Linked/therapy* ; Phenotype ; Siblings ; Retrospective Studies ; Hematopoietic Stem Cell Transplantation

Abstract Vitamin D deficiency is a significant health issue, particularly among office workers. This literature review emphasizes the availability of evidence on vitamin D deficiency and its impacts on musculoskeletal health and immune functions, especially amongst office workers. A literature search of PubMed, Scopus, and Web of Science identified relevant studies on the relationship between vitamin D status and musculoskeletal health and infection risks, highlighting the prevalence of vitamin D deficiency in office workers due to limited sunlight exposure and sedentary lifestyles. The risks of osteoporosis, muscle weakness, and musculoskeletal pain, as well as impaired immune system function, are carefully examined. Potential intervention strategies include implementing work schedules allowing for outdoor breaks, providing access to vitamin D-fortified foods or supplements, and routine screening for vitamin D levels. Addressing the low level of vitamin D in office workers is essential for promoting musculoskeletal health, supporting immune functions, and enhancing workforce productivity. This review underscores the need for further research and the implementation of evidence-based interventions to mitigate the impact of vitamin D deficiency in this population.
Vitamin D deficiency ; office workers ; musculoskeletal ; Immunity

OBJECTIVE: To observe the clinical efficacy of acupuncture and moxibustion combined with medication in the treatment of functional constipation in elderly with yang deficiency and qi stagnation and its effect on emotional disorder. METHODS: A total of 86 elderly patients with functional constipation of yang deficiency and qi stagnation were randomly divided into an acupuncture and moxibustion group (43 cases, 1 case dropped out, 1 case was eliminated) and a medication group (43 cases, 1 case dropped out). The medication group was treated with lactulose oral solution, once a day；in the acupuncture and moxibustion group, on the basis of the treatment in the medication group, acupuncture at intestinal three points (bilateral Tianshu [ST25], Shangjuxu [ST37] and Guanyuan [CV4] were selected, 30 min each time, once every other day) combined with thunder-fire moxibustion (Shenque [CV8] was selected, 30 min each time, once every other day) was given. Both groups were treated for 4 weeks. Before and after treatment, the patient assessment of constipation symptoms (PAC-SYM) score, defecation situation (defecation interval time, defecation time, defecation frequency) and the scores of TCM syndrome, patient assessment of constipation quality of life (PAC-QOL), Pittsburgh sleep quality index (PSQI), self-rating anxiety scale (SAS), self-rating depression scale (SDS) were observed in the two groups. The clinical efficacy and safety of the two groups were evaluated. RESULTS: Compared before treatment, after treatment, the PAC-SYM scores, defecation interval time, defecation time, TCM syndrome scores, PAC-QOL scores, SAS scores and SDS scores in both groups were decreased (P<0.05), the defecation frequency was increased (P<0.05) in the two groups; the PSQI score in the acupuncture and moxibustion group was decreased (P<0.05). The PAC-SYM score, defecation interval time, defecation time, TCM syndrome score, PAC-QOL score, PSQI score, SAS score and SDS score after treatment in the acupuncture and moxibustion group were lower than those in the medication group (P<0.05), and the defecation frequency in the acupuncture and moxibustion group was higher than that in the medication group (P<0.05). The total effective rate of the acupuncture and moxibustion group was 92.7% (38/41), which was higher than 73.8% (31/42) in the medication group (P<0.05). The incidence of adverse reactions in the acupuncture and moxibustion group was 2.44% (1/41), while that in the medication group was 4.76% (2/42), there was no significant difference between the two groups (P>0.05). CONCLUSION Acupuncture and moxibustion combined with medication could improve the defecation situation, emotional disorder, quality of life in elderly patients with functional constipation of yang deficiency and qi stagnation.
Humans ; Moxibustion ; Constipation/drug therapy* ; Female ; Aged ; Male ; Acupuncture Therapy ; Treatment Outcome ; Qi ; Middle Aged ; Yang Deficiency/drug therapy* ; Aged, 80 and over ; Combined Modality Therapy ; Acupuncture Points

OBJECTIVE: To investigate the clinical therapeutic effect of Rendu Tongtiao acupuncture (acupuncture for regulating and improving the circulation of the conception and governor vessels) on hyperandrogenism (HA) in polycystic ovary syndrome (PCOS) with kidney-yin deficiency induced fire hyperactivity. METHODS: A total of 80 PCOS-HA patients were selected and randomly divided into an observation group and a control group, 40 cases in each group. In the control group, ethinylestradiol and cyproterone acetate tablets were administered orally,2 mg each time, once daily and for 21 consecutive days as one menstrual cycle. In the observation group, Rendu Tongtiao acupuncture was delivered at Qihai (CV6), Zhongwan (CV12), Guanyuan (CV4), Zhongji (CV3), Mingmen (GV4), Yaoyangguan (GV3), etc. once daily till ovulation, which was taken as the treatment session of one menstrual cycle. The treatment was completed after 3 menstrual cycles in each group. Before and after treatment, the serum levels of testosterone (T), dihydrotestosterone (DHT), luteinizing hormone (LH), follicle-stimulating hormone (FSH), prolactin (PRL), sex hormone-binding globulin (SHBG), and the scores of acne and hirsutism were compared in the two groups; besides, menstrual recovery rate, ovulation recovery rate, basic body temperature (BBT) biphasic rate and clinical effect were compared between the two groups. RESULTS: Compared with those before treatment, the levels of T, DHT, LH and PRL, as well as the scores of acne and hirsutism were reduced in the two groups after treatment (P<0.05), and the levels of FSH and SHBG were increased (P<0.05). After treatment, the levels of T, DHT, LH and PRL, as well as the scores of acne and hirsutism in the observation group were lower than those in the control group (P<0.05); and FSH and SHBG were higher (P<0.05). After treatment, the menstrual recovery rate and ovulation recovery rate, as well as BBT biphasic rate in the observation group increased in comparison with the control group (P<0.05). The total effective rate was 97.5% (39/40) in the observation group, which was higher than 82.4% (33/40) of the control group (P<0.05). CONCLUSION Rendu Tongtiao acupuncture can effectively regulate the secretion of hormones, alleviate the clinical symptoms of HA, and accelerate the recovery of menstruation and natural ovulation in patients with PCOS-HA of kidney-yin deficiency induced fire hyperactivity .
Humans ; Female ; Polycystic Ovary Syndrome/complications* ; Acupuncture Therapy ; Adult ; Young Adult ; Hyperandrogenism/blood* ; Yin Deficiency/therapy* ; Kidney/physiopathology* ; Acupuncture Points ; Testosterone/blood* ; Luteinizing Hormone/blood* ; Follicle Stimulating Hormone/blood* ; Adolescent

OBJECTIVE: To observe the clinical efficacy of warming acupuncture combined with western medication for oligoasthenoteratozoospermia of kidney-yang insufficiency and its effects on the levels of interleukin (IL)-6 and IL-10 in seminal plasma. METHODS: A total of 60 patients with oligoasthenoteratozoospermia of kidney-yang insufficiency were randomly divided into a combination group and a medication group, with 30 cases in each group. The medication group was treated with levocarnitine oral solution orally, 10 mL once, 3 times a day. On the basis of the treatment in the medication group, warming acupuncture was applied at Baihui (GV20), Guanyuan (CV4) and Mingmen (GV4) in the combination group, once every other day, 3 times a week. Both groups were treated for 12 weeks. Before and after treatment, the TCM syndrome score was observed, the semen routine indexes (the sperm concentration, progressive [PR] sperm motility, PR + non-progressive [NP] sperm motility and sperm malformation rate), the serum sex hormones indexes (follicle-stimulating hormone [FSH], luteinizing hormone [LH], testosterone [T] and estradiol [E₂]), as well as the IL-6 and IL-10 levels in seminal plasma were detected, and the clinical efficacy was evaluated after treatment in the two groups. RESULTS: After treatment, except for the hyposexuality score in the medication group, the each item scores and total scores of TCM syndrome were decreased compared with those before treatment (P<0.01, P<0.05), the sperm malformation rates, serum FSH and LH levels, IL-6 levels in the seminal plasma were decreased compared with those before treatment (P<0.01, P<0.05), the PR sperm motility, PR + NP sperm motility, serum T levels, IL-10 levels in the seminal plasma were increased compared with those before treatment (P<0.01, P<0.05) in the two groups; the sperm concentration was increased compared with that before treatment in the combination group (P<0.01). After treatment, compared with the medication group, except for the hyposexuality and frequent nocturia scores, the each item scores and total score of TCM syndrome were lower (P<0.01, P<0.05); the sperm concentration, PR sperm motility and PR + NP sperm motility, serum T level, IL-10 level in the seminal plasma were higher (P<0.01, P<0.05); sperm malformation rate, serum FSH and LH levels, IL-6 level in the seminal plasma were lower (P<0.01, P<0.05) in the combination group. The total effective rate was 83.8% (25/30) in the combination group, which was superior to 60.0% (18/30) in the medication group (P<0.05). CONCLUSION Warming acupuncture combined with western medication can effectively treat oligoasthenoteratozoospermia of kidney-yang insufficiency, regulate the levels of sex hormones, and its mechanism may be related to the down-regulation of IL-6 level and the up-regulation of IL-10 level in seminal plasma.
Humans ; Male ; Interleukin-10/genetics* ; Interleukin-6/genetics* ; Adult ; Semen/metabolism* ; Acupuncture Therapy ; Oligospermia/drug therapy* ; Yang Deficiency/physiopathology* ; Kidney/physiopathology* ; Young Adult ; Asthenozoospermia/drug therapy* ; Combined Modality Therapy ; Treatment Outcome

OBJECTIVE: To observe the clinical efficacy of acupoint magnetotherapy as an adjunctive treatment for mild to moderate hypertension with yin deficiency and yang hyperactivity. METHODS: A total of 66 patients with mild to moderate hypertension of yin deficiency and yang hyperactivity were randomly divided into a magnetotherapy group (33 cases, 3 cases dropped out) and a non-magnetotherapy group (33 cases, 4 cases dropped out). Both groups were given antihypertensive drugs based on their clinical conditions. The magnetotherapy group and the non-magnetotherapy group wore surface magnetic therapy bands with or without magnetic poles, respectively, at unilateral Neiguan (PC6) and Waiguan (TE5). Intervention was administered once daily, 8 h each time, for a continuous period of 4 weeks. Traditional Chinese Medicine (TCM) syndrome score, Du's hypertension quality of life (QOL) scale score, office blood pressure, and 24-hour ambulatory blood pressure were assessed before and after the intervention, and the clinical efficacy was evaluated after intervention. RESULTS: After the intervention, both groups showed reductions in TCM syndrome scores, office systolic blood pressure (SBP), and diastolic blood pressure (DBP) compared with those before intervention (P<0.001), and their Du's QOL scores increased (P<0.001). The magnetotherapy group had lower TCM syndrome score and office SBP and DBP than those in the non-magnetotherapy group (P<0.001), while Du's QOL score was higher (P<0.001). After the intervention, all 24-hour ambulatory blood pressure indexes in the magnetotherapy group were reduced compared with those before intervention (P<0.05); in the non-magnetotherapy group, 24-hour average diastolic blood pressure (24hDBP), nighttime average systolic blood pressure (nSBP), and nighttime average diastolic blood pressure (nDBP) were reduced (P<0.05). The 24-hour average systolic blood pressure (24hSBP), 24hDBP, daytime average systolic blood pressure (dSBP), daytime average diastolic blood pressure (dDBP), and nSBP after intervention in the magnetotherapy group were lower than those in the non-magnetotherapy group (P<0.05). The total effective rate in the magnetotherapy group was 93.3% (28/30), which was higher than 75.9% (22/29) in the non-magnetotherapy group (P<0.05). CONCLUSION Acupoint magnetotherapy as an adjunctive treatment for mild to moderate hypertension with yin deficiency and yang hyperactivity could effectively alleviate clinical symptoms and TCM syndromes, improve quality of life, and reduce blood pressure level.
Humans ; Male ; Female ; Middle Aged ; Acupuncture Points ; Hypertension/physiopathology* ; Adult ; Yin Deficiency/physiopathology* ; Aged ; Blood Pressure ; Magnetic Field Therapy ; Acupuncture Therapy ; Treatment Outcome ; Combined Modality Therapy

Humans ; Dietary Supplements ; Vitamin A Deficiency/epidemiology* ; Vitamin A/therapeutic use* ; China/epidemiology* ; Child, Preschool ; Infant ; Consensus ; Nutritional Status ; Child

This study investigates the reproductive protective effect and potential mechanism of Cistanches Herba extract(CHE) on a rat model of kidney-Yang deficiency induced by adenine. Rats were randomly divided into five groups: normal, model, low-dose CHE(0.6 g·kg~(-1)·d~(-1)), high-dose CHE(1.2 g·kg~(-1)·d~(-1)), and L-carnitine(100 mg·kg~(-1)·d~(-1)). The rats were administered adenine(200 mg·kg~(-1)·d~(-1)) by gavage for the first 14 days to induce kidney-Yang deficiency, while simultaneously receiving drug treatment. After 14 days, the modeling was discontinued, but drug treatment continued to 49 days. The content of components in CHE was analyzed by high-performance liquid chromatography. The adenine-induced kidney-Yang deficiency model was assessed through symptom characterization and measurement of testosterone(T) levels using an enzyme-linked immunosorbent assay kit. Pathological damage to the testis and epididymis was evaluated based on the wet weight and performing hematoxylin-eosin staining. Sperm density and motility were measured using computer-aided sperm analysis, and sperm viability was assessed using live/dead sperm staining kits, and sperm morphology was evaluated using eosin staining, thereby determining rat sperm quality. Metabolomics was used to analyze changes in serum metabolites, enrich related metabolic pathways, and explore the mechanism of CHE in improving reproductive function damage in rats with kidney-Yang deficiency syndrome. Compared to the normal group, the model group exhibited significant kidney-Yang deficiency symptoms, reduced T levels, decreased testicular and epididymal wet weights, and significant pathological damage to the testis and epididymis. The sperm density, motility, and viability decreased, with an increased rate of sperm abnormalities. In contrast, rats treated with CHE showed marked improvements in kidney-Yang deficiency symptoms, restored T levels, alleviated pathological damage to the testis and epididymis, and improved various sperm parameters. Metabolomics results revealed 286 differential metabolites between the normal and model groups(191 upregulated and 95 downregulated). Seventy-five differential metabolites were identified between the model and low-dose CHE groups(21 upregulated and 54 downregulated). A total of 24 common differential metabolites were identified across the three groups, with 22 of these metabolites exhibiting opposite regulation trends between the two comparison groups. These metabolites were primarily involved in linoleic acid metabolism, ether lipid metabolism, and pantothenic acid and coenzyme A biosynthesis, as well as metabolites including 13-hydroperoxylinoleic acid, lysophosphatidylcholine, and pantethine. CHE can improve kidney-Yang deficiency symptoms in rats, alleviate reproductive organ damage, and enhance sperm quality. The regulation of lipid metabolism may be a potential mechanism through which CHE improves reproductive function in rats with kidney-Yang deficiency. The potential bioactive compounds of CHE include echinacoside, verbascoside, salidroside, betaine, and cistanoside A.
Animals ; Male ; Rats ; Yang Deficiency/physiopathology* ; Metabolomics ; Kidney/physiopathology* ; Rats, Sprague-Dawley ; Drugs, Chinese Herbal/administration & dosage* ; Cistanche/chemistry* ; Kidney Diseases/metabolism* ; Testis/metabolism* ; Humans ; Reproduction/drug effects* ; Testosterone/blood*

Cardiac fibrosis(CF) is a cardiac pathological process characterized by excessive deposition of extracellular matrix(ECM). When the heart is damaged by adverse stimuli, cardiac fibroblasts are activated and secrete a large amount of ECM, leading to changes in cardiac fibrosis, myocardial stiffness, and cardiac function declines and accelerating the development of heart failure. There is a close relationship between heart yin deficiency and cardiac fibrosis, which have similar pathogenic mechanisms. Heart Yin deficiency, characterized by insufficient Yin fluids, causes the heart to lose its nourishing function, which acts as the initiating factor for myocardial dystrophy. The deficiency of body fluids leads to stagnation of blood flow, resulting in blood stasis and water retention. Blood stasis and water retention accumulate in the heart, which aligns with the pathological manifestation of excessive deposition of ECM, as a tangible pathogenic factor. This is an inevitable stage of the disease process. The lingering of blood stasis combined with water retention eventually leads to the generation of heat and toxins, triggering inflammatory responses similar to heat toxins, which continuously stimulate the heart and cause the ultimate outcome of CF. Considering the syndrome of heart Yin deficiency, traditional Chinese medicine capable of nourishing Yin, activating blood, and promoting urination can reduce myocardial cell apoptosis, inhibit fibroblast activation, and lower the inflammation level, showing significant advantages in combating CF.
Humans ; Fibrosis/drug therapy* ; Animals ; Yin Deficiency/metabolism* ; Myocardium/metabolism* ; Medicine, Chinese Traditional ; Drugs, Chinese Herbal/therapeutic use*

Kidney-Yang deficiency syndrome is a common geriatric disease that underlies chronic conditions such as diabetic nephropathy, chronic kidney disease, and osteoporosis. As age progresses, the kidney-Yang deficiency syndrome showcases increasingly pronounced manifestations, emerging as a key factor in the comorbidities experienced by elderly patients and affecting their quality of life and overall health status. Traditional Chinese medicine(TCM) has been extensively utilized in the treatment of kidney-Yang deficiency syndrome, with Epimedii Folium, Cinnamomi Cortex, and Lycii Fructus widely used in clinical settings. Despite the complexity of the molecular mechanisms involved in treating kidney-Yang deficiency syndrome, the potential therapeutic value of TCM remains compelling. Delving into the mechanisms of TCM treatment of kidney-Yang deficiency syndrome by regulating the neuro-endocrine-immune system can provide a scientific basis for targeted treatments of this syndrome and lay a foundation for the modernization of TCM. The pathophysiology of kidney-Yang deficiency syndrome involves multiple systems, including the interaction of the neuro-endocrine-immune system, the decline in renal function, the intensification of oxidative stress responses, and energy metabolism disorders. Understanding these mechanisms and their interrelationships can help untangle the etiology of kidney-Yang deficiency syndrome, aiding clinicians in making more precise diagnoses and treatments. Furthermore, the research on the specific applications of TCM in research on these pathological mechanisms can enhance the international recognition and status of TCM, enabling it to exert a greater global influence.
Humans ; Yang Deficiency/physiopathology* ; Drugs, Chinese Herbal/therapeutic use* ; Medicine, Chinese Traditional ; Kidney Diseases/physiopathology* ; Neurosecretory Systems/physiopathology* ; Animals ; Kidney/physiopathology* ; Endocrine System/physiopathology* ; Immune System/physiopathology*