To explore the feasibility of using indocyanine green(ICG) visualizing the deep infiltrating endometriosis (DIE) during robotic surgery.

A patient with DIE in Department of Genecology and Obstetrics, Chinese PLA General Hospital was selected and underwent total hysterectomy with bilateral adnexectomy and endometriosis lesion excision with perfect preoperative examination and no surgical contraindication. Near-infrared fluorescence imaging with indocyanine green was used in the operation to visualize the endometriosis lesions.

The location of the lesions were accurate and the patient discharged from hospital successfully.

Near-infrared fluorescence imaging system with indocyanine green may clearly visualize the deep infiltrating endometriosis during robotic surgery. It is characterized by brief operation, accuracy and real time. With this technique, we can comprehensively evaluate the scope of our surgery.

Pyostomatitis vegetans (PSV) is an uncommon inflammatory disorder of the oral mucosa, frequently associated with inflammatory bowel disease. IgA pemphigus, a rare autoimmune bullous disease, seldom involves mucosal tissues. We present a case of IgA pemphigus initially manifesting as PSV, with subsequent development of pustular lesions on the posterior trunk, neck, back, and perianal region, accompanied by gastrointestinal symptoms and peer reactions. The patient's condition improved following combination therapy with glucocorticoids, thalidomide, and rituximab. The extensive mucosal involvement observed in this case broadens the understanding of the clinical spectrum of IgA pemphigus. This report highlights that PSV may serve as an initial manifestation of IgA pemphigus, which should therefore be considered in the differential diagnosis of such oral lesions. Multidisciplinary management is essential for accurate diagnosis and effective treatment.

The promulgation of the "Regulations on the Clinical Research and Clinical Translation Application of New Biomedical Technologies" (hereinafter referred to as the "Regulations") constitutes a milestone in the history of regulating new biomedical technologies in China, marking the formal entry of this field into a new stage of rule-of-law characterized by "lenient entry, strict exit, and strong supervision". Based on the author's long-term practice experience in the field of clinical research and clinical transformation of stem cells, this article provides a systematic analysis and deep thinking on the legislative background, core framework, and underlying governance logic of the "Regulations". The article points out that the "lenient entry" established by the "Regulations" is, in essence, a dialectical unity of simplified procedural thresholds and strengthened substantive responsibilities. The "strict exit" emphasized by the "Regulations" builds a solid quality and ethical defense line for clinical translation through a national-level "dual-evaluation" mechanism and whole-cycle dynamic supervision. The "strong supervision" it relies on constructs a whole-process, clear-responsibility chain and deterrent system by granting substantive enforcement powers, establishing graded legal liabilities, and implementing a "dual punishment" system for individuals. Particularly importantly, the "Regulations" thoroughly unblock the medical technology pathway within the "dual-track" system for stem cell therapy, and provide clear guidance for technological innovation and translation through the "three stages, dual reviews, dual evaluations" (i.e., "3+2+2") regulatory framework. However, as a framework legislation, the supporting rules and technical guidelines for key links such as the review mechanism, qualification of assessment bodies, clinical application access standards, and the classification criteria of technologies and products in the "Regulations" still need to be clarified, and its implementation still faces challenges from "text" to "practice". Based on this, from the multiple perspectives of medical institutions, enterprises, and regulatory coordination, this article proposes systematic and actionable implementation suggestions, emphasizing that all parties need to plan ahead, consolidate internal capabilities, and collaborate to build together, in order to translate policy opportunities into clinical value, and jointly promote the standardized, safe, and efficient development of China's new biomedical technology industry.

To explore the genetic etiology, clinical characteristics and treatment options of children with megaconial congenital muscular dystrophy (CMD) caused by CHKB gene mutation.

A child (the proband) with megaconial CMD caused by CHKB gene mutation, who was hospitalized twice in June 2014 and August 2021 at the Children′s Medical Center of Sun Yat-sen Memorial Hospital, Sun Yat-sen University was selected as the study subject. A retrospective analysis was conducted on the medical history, clinical manifestations, physical examinations, laboratory tests, muscle biopsy pathology results, treatment, and follow-up outcomes of the proband. During the second hospitalization, whole-exome sequencing (WES) was performed on the proband and her parents, with Sanger sequencing used for validation. Literature on patients with megaconial CMD caused by CHKB gene mutation was retrieved from the CNKI, Wanfang Data Knowledge Service Platform, and PubMed databases using the Chinese keyword " megaconial congenital muscular dystrophy" and English keywords " CHKB gene mutation" " myasthenic" and " megaconial congenital muscular dystrophy". The retrieval time was set from the inception of each database to December 31, 2024. The study protocol was approved by the Medical Ethics Committee of Sun Yat-sen Memorial Hospital, Sun Yat-sen University (Approval No. SYSKY-2024-728-01).

①The proband was female, aged 4 years 9 months and 11 years 11 months during her first and second hospitalizations, respectively. Her parents were consanguineous and there were no perinatal complications. The disease began in infancy with initial manifestations of hypotonia, delayed language and motor development. She could walk independently at 1 year 8 months but had limb weakness, a waddling gait, was prone to falls, and developed lower limb muscle atrophy after age 5. She experienced two epileptic seizures, and electroencephalogram showed bilateral multiple spike waves. Her physical development lagged behind peers. Her serum creatine kinase (CK) remained abnormally elevated after birth, ranging from 1 118 to 1 884 U/L (normal reference value is 40 to 200 U/L). Multiple cardiac color Doppler ultrasounds showed no significant abnormalities. During the first hospitalized in our hospital, Gesell Developmental Scale assessments in our hospital indicated adaptive behavior 53 points, fine motor 51 points, language 51 points, personal-social 54 points, and gross motor 54 points, suggesting moderate intellectual disability. Muscle biopsy (light microscopy and immunohistochemistry) pathology indicated " myopathic damage consistent with muscular dystrophy" ; electron microscopy was consistent with myogenic ultrastructural damage. During the second hospitalized in our hospital, WES revealed a homozygous frameshift mutation in the CHKB gene on chromosome 22: c. 598delC(p.Gln200Argfs*11) (NM_005198.5), inherited from both parents (each carrying a heterozygous mutation). And based on clinical presentation, auxiliary examinations, and genetic testing, the proband was finally diagnosed with megaconial CMD caused by CHKB gene mutation. After treatment with levocarnitine, fructose sodium diphosphate, inosine tablets, and vitamins B2, B6, and B12, her muscle weakness improved compared with before treatment. Follow-up until March 2022 (age 12 years 6 months) showed that the proband died due to " fulminant myocarditis and cardiogenic shock" despite emergency treatment at another hospital. ② The results of the literature review showed that 50 patients with megaconial CMD (excluding the proband) were included in the study. The results of a comprehensive analysis of genetic etiology and clinical characteristics revealed that the age of onset for megaconial CMD ranged from 2 months to 40 years, and 45 cases were diagnosed in childhood, all with CHKB gene mutations. Main clinical manifestations: muscle weakness in 50 cases (100.0%), motor developmental delay in 50 cases (100.0%), intellectual disability in 48 cases (96.0%), and speech delay in 45 cases (90.0%).

Children with megaconial CMD caused by CHKB gene mutation are rare. The main clinical manifestations are muscle weakness, motor developmental delay, intellectual disability. Muscle tissue biopsy and WES sequencing are effective methods for the diagnosis of the disease. Treatment with levocarnitine fructose sodium diphosphate, inosine tablets, and multivitamins for the proband can improve the muscle weakness symptoms, but cardiac related complications must be prevented and treated.

To investigate the clinical and genetic characteristics of children with immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA).

Two siblings with ISDNA who were evaluated at the Department of Rehabilitation Medicine, Chengdu Women′s and Children′s Central Hospital on May 3, 2017, including the proband (Patient 1) and his brother (Patient 2), were enrolled. Their clinical data were retrospectively reviewed. Whole-genome sequencing (WGS) was performed to identify genetic variants, which were subsequently validated by Sanger sequencing and segregation analysis. A literature search was conducted using the keywords " immunoskeletal dysplasia with neurodevelopmental abnormalities" " ISDNA" " skeletal dysplasia" " immunodeficiency and developmental delay" and " EXTL3" in both Chinese and English in the CNKI, Wanfang, VIP, PubMed, and Sci-Hub databases from inception of each database to November 30, 2024, to summarize the clinical and genetic features of ISDNA. The study was approved by the Ethics Committee of Chengdu Women′s and Children′s Central Hospital [Approval No. 2021(41)], and informed consent was obtained from the guardians.

① Both patients presented with varying degrees of growth retardation, neurodevelopmental abnormalities, and immune dysfunction. The proband (Patient 1) additionally exhibited multiple skeletal anomalies, hypotonia, and a single transverse palmar crease, whereas his brother (Patient 2) mainly manifested with epilepsy, developmental delay, and immune abnormalities. ② WGS revealed two heterozygous variants in the EXTL3 gene (NM_001440.4) of the proband and Patient 2: a missense variant c. 1849A>G in exon 3 and a nonsense variant c. 2572C>T in exon 7, inherited from the mother and father, respectively, consistent with a compound heterozygous pattern. Both variants were novel and were classified as variants of uncertain significance (VUS) according to the ACMG guidelines. ③The literature review identified 9 publications involving 20 patients with ISDNA; together with the present 2 cases, a total of 22 patients were analyzed. The most common clinical features were immune abnormalities (77.3%), characteristic facial features (72.7%), and spinal/pelvic abnormalities and developmental delay (68.2%). Eleven distinct EXTL3 variants were identified, of which homozygous variants accounted for 81.8% (18/22) and compound heterozygous variants for 18.2% (4/22).

ISDNA is a rare autosomal recessive disorder characterized by heterogeneous clinical manifestations and a poor prognosis. Patients may die from severe immunodeficiency or suffer from significant disability. Molecular genetic testing currently represents the only definitive method for confirming the diagnosis.

To explore the effectiveness of severe case-based discussions and problem-based learning (PBL) methods in cultivating clinical abilities of medical treatment teams.

A total of 120 visiting trainees (including both physicians and therapists) from the spring and autumn intakes of 2023-2024 at West China Hospital of Sichuan University were enrolled and randomly assigned to either an experimental group or a control group, with 60 participants in each group. Each group consisted of 30 visiting physicians and 30 visiting therapists. The experimental group received a teaching intervention combining complex case discussions in critical care rehabilitation with PBL, while the control group participated only in routine clinical activities. Both groups underwent theoretical examinations before and after the training period. Following the training, all participants completed a survey questionnaire covering five domains: teaching content, teaching quality, instructional innovativeness, perceived effectiveness in developing clinical competencies, and overall teaching effectiveness. Responses were collected using a 5-point Likert scale. Subgroup analyses were performed separately for visiting physicians and therapists across these five dimensions.

The theoretical assessment scores of the trainees in the experimental group were higher one week before the end of the refresher course compared to before the course, and those in the experimental group were also higher than those in the control group, with statistically significant differences (P<0.05). There were statistically significant differences between the two groups in the survey evaluations across all measured domains: teaching content, teaching quality, instructional innovativeness, perceived enhancement of clinical competencies, and overall teaching effectiveness (P<0.05). In the subgroup analysis, there were statistically significant differences between the two groups of rehabilitation physicians and therapists in terms of teaching content, teaching quality, teaching novelty, and the effect on clinical ability development and teaching effectiveness after participation in the learning (P<0.05).

The integration of complex case discussions with PBL in critical care rehabilitation training enhances the clinical competencies of the rehabilitation team, effectively motivates the active engagement of trainees, improves instructional outcomes, and strengthens interprofessional collaboration.

In this report, a 63-year-old male patient was admitted due to "dull pain in the right upper abdomen for 2 months". Imaging and pathological examination confirmed the diagnosis of synchronous hepatocellular carcinoma (CNLC Ⅰa stage) and duodenal papillary carcinoma (moderately-poorly differentiated adenocarcinoma complicated with signet ring cell carcinoma). The patient had a history of chronic hepatitis B. After Multidisciplinary team (MDT) consultation, laparoscopic local resection of segment 5 of the liver combined with pancreatoduodenectomy were performed to achieve R0 resection. Liver metastasis occurred 2 months after operation, and it was completely relieved after TACE, tirelizumab immunotherapy and FOLFOX4 chemotherapy. Postoperative survival time has exceeded 16 months. This case of synchronous double primary carcinoma of the liver and duodenal papilla is extremely rare, and it is likely to miss the diagnosis in clinical practice, suggesting that after the diagnosis of one type of malignant tumor, comprehensive evaluation is still needed to exclude other primary lesions. PET-CT shows important value in the early identification of such multiple primary cancers. Through multi-mode strategy of individualized comprehensive treatment and whole-course management, this patient achieved favorable tumor control effect, providing reference for clinical diagnosis and treatment of such rare cases.