Isolated growth hormone deficiency(IGHD) type Ⅳ is associated with genetic mutations in the growth hormone releasing hormone receptor(GHRHR) gene. This report presents a case of IGHD type Ⅳ with undetectable growth hormone level and an absent response to the insulin-induced hypoglycemia test, indicating complete growth hormone deficiency. Next-generation sequencing identified a novel homozygous missense mutation, c. 680T>C(p.Leu227Pro*), in the GHRHR gene in the patient and her sister. Protein functional analysis suggests that this mutation disrupts the structure and stability of the GHRHR protein, impairing its function. Genetic and clinical evaluation confirms that the c. 680T>C(p.Leu227Pro*) mutation is pathogenic and inherited in an autosomal recessive pattern. A literature review of IGHD type Ⅳ mutation hotspots is included to support clinical diagnosis and management.

Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.

Objective To explore the clinical value of high-frequency ultrasound-guided labial gland biopsy in patients with suspected Sj?gren's syndrome(SS).Methods Totally 126 patients with clinically suspected SS and salivary gland involvement who underwent labial gland biopsy in Department of Ultrasound and Department of Rheumatology and Immunology,Shuguang Hospital Affiliated to Shanghai University of Traditional Chinese Medicine from Sep.2022 to Dec.2024 were enrolled.The patients who underwent traditional excision labial gland biopsy from Sep.2022 to Feb.2023 were selected as control group(n=53),and the patients who received high-frequency ultrasound-guided labial gland biopsy from Mar.2023 to Dec.2024 were selected as ultrasound-guided group(n=73).The success rate of sampling,the number of salivary lobes,wound healing time,and adverse reaction incidence were analyzed in the 2 groups.Results The success rate of sampling in the ultrasound-guided group(100.00％,73/73)was significantly higher than that in the control group(92.45％,49/53),the number of salivary lobes(6[6,7])was significantly greater than that in the control group(6[5,6]),and the wound healing time was significantly shorter than that in the control group(4[4,5]d vs 5[5,6]d)(all P＜0.05).One(1.37％)patient of the ultrasound-guided group had postoperative adverse reactions,and 5(9.43％)patients of the control group had adverse reactions,with no significant difference(P＞0.05).Conclusion High-frequency ultrasound can clearly locate labial gland,improve the success rate of sampling and shorten the wound healing time,and it is worthy of clinical promotion and application.

Isolated growth hormone deficiency(IGHD) type Ⅳ is associated with genetic mutations in the growth hormone releasing hormone receptor(GHRHR) gene. This report presents a case of IGHD type Ⅳ with undetectable growth hormone level and an absent response to the insulin-induced hypoglycemia test, indicating complete growth hormone deficiency. Next-generation sequencing identified a novel homozygous missense mutation, c. 680T>C(p.Leu227Pro*), in the GHRHR gene in the patient and her sister. Protein functional analysis suggests that this mutation disrupts the structure and stability of the GHRHR protein, impairing its function. Genetic and clinical evaluation confirms that the c. 680T>C(p.Leu227Pro*) mutation is pathogenic and inherited in an autosomal recessive pattern. A literature review of IGHD type Ⅳ mutation hotspots is included to support clinical diagnosis and management.

Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.

Objective To investigate the value of serum aquaporin 1(AQP1)level combined with extra-vascular lung water index(EVLWI)in assessing the severity and prognosis of sepsis causing acute respiratory distress syndrome(ARDS).Methods 268 patients with sepsis-induced ARDS(ARDS group)and 55 patients with sepsis alone(sepsis alone group)admitted to our hospital from January 2020 to December 2023 were selected.Patients with sepsis-induced ARDS were divided into 89 mild,109 moderate,and 70 severe groups according to the oxygenation index(OI),and 104 deaths and 164 survivors according to the 28 d prognosis.Detection of serum AQP1 levels and calculation of EVLWI.Using Spearman's method,the correlation between serum AQP1 level,EVLWI and OI in patients with sepsis-induced ARDS;the establishment of a logistic regression model to determine the factors of sepsis-induced mortality in patients with ARDS;and the plotting of ROC curves to evaluate the value of serum AQP1 level in combination with EVLWI for its assessment.Results Compared with the simple sepsis group,serum AQP1 level was reduced and EVLWI was increased in the ARDS group(P<0.05).AQP1 levels were sequentially lower and EVLWI sequentially higher in the mild,moderate,and severe groups(P<0.05).Serum AQP1 levels were positively correlated with OI in patients with sepsis-induced ARDS,and EVLWI was negatively correlated with OI in patients with sepsis-induced ARDS(P<0.05).The 28 d mortality rate in 268 patients with ARDS due to sepsis was 38.81%(104/268).The independent protective factors for death in ARDS patients with sepsis were elevated OI(OR=0.984,95%CI:0.976～0.992)and elevated AQP1(OR=0.761,95%CI:0.677～0.854),and the independent risk factors were increased SOFA score(OR=1.367,95%CI:1.142～1.636)and elevated blood lactate(OR=2.515,95%CI:1.689～3.745),and elevated EVLWI(OR=1.559,95%CI:1.290～1.885)(P<0.05).The AUC predicted by serum AQP1 level combined with EVLWI was 0.887(95%CI:0.843～0.923),which was greater than the AUC predicted by serum AQP1 level,and EVLWI alone,which was 0.792(95%CI:0.738～0.839),and 0.807(95%CI:0.754～0.852)(P<0.05).Conclusion Decreased serum AQP1 levels and elevated EVLWI were associated with increased severity and poor prognosis in patients with sepsis-induced ARDS,and serum AQP1 levels in combination with EVLWI were of high value in assessing the prognosis of patients with sepsis-induced ARDS.

Objective:To verify the efficacy and safety of daily oral minodronate in postmenopausal women with established osteoporosis.Methods:In this randomized, double-blinded, placebo-controlled trial, 262 postmenopausal women were enrolled. Patients were randomized to receive daily oral minodronate 1 mg with supplements of 500 mg calcium and 200 U vitamin D 3 ( n=130) or placebo ( n=132) with daily supplements of 500 mg calcium and 200 U vitamin D 3, for 48 weeks. The primary endpoint was the average bone mineral density (BMD) change in the lumbar vertebrae 48 weeks post-treatment. Secondary outcome measures was the incidence of vertebral fractures. Safety assessments included the rate of adverse events. Results:At the end of 48 weeks treatment, the average BMD change rate from baseline were: full analysis set results: (3.52±4.82)% in the minodronate group and (2.00±5.74)% in the placebo group; per-protocol set results: (3.99±5.05)% in the minodronate group and (2.07±6.20)% in the placebo group; the differences were all significant (all P<0.05). Vertebral fracture occured in 3 patients (2.3%, 3/132) in the placebo group, and 1 case (0.8%, 1/130) in the minodronate group ( P>0.05). The incidence of adverse events was 71.5% (93/130) in the minodronate group and 78.0% (103/132) in the placebo group ( P>0.05). Conclusion:Minodronate is effective and safe in the treatment of postmenopausal osteoporosis without severe side effects.

Irreversible electroporation (IRE) is an emerging tissue ablation technique. Compared with thermal ablation technique such as radiofrequency, IRE can achieve focal ablation in a shorter time without heat sink effect while sparing the tissue scaffold. IRE has been demonstrated to be a feasible therapeutic modality for the liver, pancreatic, and prostatic cancer. In recent years, several studies regarding of catheter-directed IRE for digestive tract, bronchus, urinary tract, and myocardium have been performed, which preliminarily demonstrated the safety and efficacy of IRE for tissue ablation under endoscopic or interventional technique. This study summarized the research progress of catheter-directed IRE for tissue ablation. The critical technique and future direction of catheter-based IRE are prosp.
Catheter Ablation ; Catheters ; Electroporation ; Endoscopy ; Humans

Objective To strengthen the understanding of granulocytic sarcomas(GS)by investigating the clinical characteristics of GS of spine. Methods The clinical data of 2 GS patients were retrospectively analyzed, and the related literature was reviewed. Results Because of the double lower limbs numbness, the 2 GS patients came to orthopedics department of the 306th Hospital of PLA. Magnetic resonance imaging (MRI) of the 2 patients showed an epidural mass located at the 9th-11th and 2nd-4th thoracic levels. Their histopathological examination and immunohistochemistry revealed GS.For example 1,she was diagnosed with acute promyelocytic leukemia(APL)and has been morphologic complete commission(CR) from 1995 to 2015. Chemotherapy and all-trans retinoic acid (ATRA) were performed after extramedullary relapse in thoracic spine,breast,ovary,sternum bone and lymph nodes.So far,the patient is still in follow-up.For example 2,he was diagnosed as isolated GS by morphology, immune phenotype, chromosome and gene examinations. Because he refused chemotherapy, radiotherapy was performed after surgical intervention. So far, he is loss of follow-up. Conclusions Spinal epidural of GS is rare. Surgery can reduce or remove nerve compression symptoms, and help clear diagnosis. The current recommended treatment regimen in patients presenting with isolated GS or GS presenting concomitantly with AML is conventional AML-type chemotherapeutic protocols. The differences in prognosis of GS patients may be partially attributed to different characteristics of patient.

In this paper,we analyzed one case of primary multifocal extranodal non-Hodgkin's lymphoma and reviewed the related literatures.We investigated the clinical data of this case with primary multifocal extranodal lymphoma and retrospected the related references.The key words,primary extranodal lymphoma and multifocal,were used to search Pubmed and Wanfang Database,and finally only three cases were found.The 68-yea-old woman was confirmatively diagnosed as primary multifocal extranodal B cell non-Hodgkin's lymphoma.The positron emission tomography/computed tomography (PET/CT) scan showed multiple hypermetabolic lesions in the left humerus,both kidneys and ileum.The confirmative diagnosis was based on clinical manifestations and serological tests,imaging features of CT and PET/CT,and especially on the histopathological and immunohistochemical studies.After one cycle chemotherapy (rituximab,Vincristine and prednisone) and another cycle (rituximab,Vincristine,cyclophosphamide and prednisone),a repeat PET/CT scan showed a complete metabolic resolution of the lesions in the kidneys and ileum,and a partial metabolic resolution of the left humerus.After four cycles of chemotherapy,there were new extensive involvements of the right supraclavicular and intrapulmonary lymph nodes,bilateral pleural and pericardium,and the patient gave up chemotherapy.This case demonstrated the imaging findings of an uncommon primary multifocal extranodal lymphoma in left humerus,both kidneys and ileum,and highlighted the usefulness of CT and PET/CT scan in identifying the extent of disease involvement,in guiding a biopsy,and in assessing the treatment response of lymphoma.It is essential to differentiate between primary multifocal extranodal lymphoma and lymphoma extensive metastases.