巨大静脈奇形（頚部口腔咽頭びまん性病変）

Vascular anomalies, including proliferative vascular tumours and structural malformations, are largely driven by postzygotic somatic mutations that constitutively activate key signalling pathways, mainly the PI3K/AKT/mTOR and RAS/MAPK pathways. This molecular understanding has shifted clinical management from empiric interventions towards precision medicine. In this review, the interactions between somatic mosaicism, germline predispositions (e.g., PTEN hamartoma tumour syndrome), and microenvironmental risk factors in the context of lesional progression are described. We synthesized data on genotype‒phenotype correlations-such as PIK3CA mutations in lymphatic and venous malformations, KRAS/MAP2K1 mutations in arteriovenous malformations, and cerebral cavernous malformation (CCM) complex dysfunctions in cerebral cavernous anomalies-while fundamentally differentiating the mechanistic dependencies of true malformations from those of proliferative tumours. Targeted therapies, including mTOR, PI3Kα, and MEK inhibitors, have exhibited significant clinical efficacy in the treatment of pathway-specific anomalies. Despite these advances, therapeutic resistance and drug dependency persist. Future directions include the development of integrated diagnostic frameworks combining tissue biopsies with longitudinal cell-free DNA (cfDNA) monitoring, optimizing dual-pathway combination strategies, and advancing cellular models to reshape the management of vascular anomalies.

OBJECTIVE: To investigate the short- and mid-term effectiveness and prosthesis survival rate in patients undergoing total knee arthroplasty (TKA) using domestic cementless knee prostheses with three-dimensional (3D)-printed trabecular metal interface. METHODS: A retrospective analysis was performed on the clinical data of 79 patients who underwent primary TKA for end-stage knee disorders, met the selection criteria and were treated between December 2021 and March 2022. There were 39 patients in the cementless group receiving cementless knee prostheses with 3D-printed trabecular metal interface, and 40 patients in the cemented group adopting posterior-stabilized cement-fixed knee prostheses. Baseline data including age, gender, body weight, disease type, disease duration, and preoperative Knee Society Score (KSS) (clinical score and function score) showed no significant differences between the two groups ( P>0.05). Operation time, intraoperative blood loss, and complications were recorded and compared between groups. KSS clinical and function scores before operation and at last follow-up were used to evaluate knee functional recovery. Radiographic assessment was conducted to detect prosthesis loosening, osteolysis, prosthesis subsidence, joint dislocation, and other abnormalities. Prosthesis survival rate was calculated with complete or partial prosthesis removal defined as the endpoint event, and Kaplan-Meier method was adopted to plot prosthesis survival curves. RESULTS: All patients successfully completed surgery. No significant intergroup differences were found in operation time and intraoperative blood loss ( P>0.05). All patients in the cementless group and cemented group were followed up for (28.4±2.4) months and (28.2±2.8) months respectively, without significant difference ( t=-0.274, P=0.785). At last follow-up, both KSS clinical and function scores were significantly higher than preoperative values in both groups ( P<0.05), while no significant intergroup differences were observed in the changes of each score ( P>0.05). X-ray films at last follow-up revealed no prosthesis loosening, osteolysis, prosthesis subsidence, or joint dislocation in any patient. During follow-up, 5 cases of intermuscular venous thrombosis occurred in the cementless group; in the cemented group, there were 6 cases of intermuscular venous thrombosis, 1 case of poor wound healing, 1 case of periprosthetic joint infection, 1 case of periprosthetic fracture, and 1 case of all-cause death. The complication rates of the two groups (12.8% vs 25.0%) were not different ( P>0.05). One revision surgery was performed for periprosthetic joint infection and 1 for periprosthetic fracture in the cemented group, corresponding to a prosthesis survival rate of 95.0%; no endpoint events occurred in the cementless group, with a prosthesis survival rate of 100.0%. Kaplan-Meier survival curve analysis demonstrated no significant difference in prosthesis survival rates between the two groups (Log-rank test: χ 2=2.028, P=0.154). CONCLUSION: TKA performed with domestic cementless knee prostheses featuring 3D-printed trabecular metal interface shows no obvious disadvantages compared with cemented prostheses in terms of postoperative function, complication rate, and prosthesis survival rate, which represents a safe and viable prosthesis option.

Examination of the fetal brain represents a crucial step in the diagnostic assessment of fetal death in utero, particularly in cases of unexplained intrauterine fetal death (IUFD). Prolonged intrauterine retention, advanced autolysis, and the intrinsic structural immaturity of the fetal brain frequently compromise tissue integrity, limiting diagnostic evaluability. We describe a brain extraction technique preserving the dura mater combined with a modified alcohol-formalin-acetic acid fixation protocol aimed at improving morphological preservation and diagnostic yield. Between 2017 and 2019, 295 fetal autopsies were performed at the regional reference center for SIUD-IRCCS Istituto Giannina Gaslini, Genoa, Italy. The method enables en bloc removal of the brain completely enveloped by the intact dura mater, which acts as a protective scaffold during handling and fixation. The brain is suspended in a modified Culling solution (40% buffered formalin at 10%, 40% ethanol at 95%, 20% glacial acetic acid) for approximately 20 days prior to serial sectioning according to the Charcot's technique. This approach appears to reduce mechanical disruption even in severely macerated cases, ensures uniform tissue compaction, shortens fixation times compared with formalin alone, and preserves cortical, ventricular, and brainstem anatomical relationships. It also allows gross exclusion of major abnormalities, including extensive intraventricular and intraparenchymal hemorrhages, and enables systematic inspection and sampling of the dural venous sinuses. Histological and immunohistochemical analyses demonstrated satisfactory preservation quality comparable to conventional methods. This simple and reproducible technique enhances evaluability in fetal autopsies and supports more reliable etiological assessment in cases of IUFD.

Gould syndrome, caused by COL4A1/COL4A2 mutations, is a rare multisystem disorder characterized by basement membrane defects leading to vascular fragility, cerebral small vessel disease, seizures, and renal involvement. While vascular complications are well-described, gastrointestinal bleeding remains exceedingly rare. We describe a four-year-old female with a known diagnosis of Gould syndrome who presented with hemodynamically significant hematochezia. Colonoscopy demonstrated tortuous submucosal vascular lesions consistent with colonic varices in the sigmoid colon, which were treated with bipolar probe electrocautery; an additional non-bleeding varix was noted at the hepatic flexure. Computed tomography (CT) angiography and time-resolved imaging of contrast kinetics magnetic resonance imaging (TRICKS MRI) revealed abnormal venous structures in the mesentery and bowel without evidence of arteriovenous malformation or portal-systemic shunting, congruent with endoscopic findings. There was no clinical or radiographic evidence of portal hypertension. This case expands the phenotypic spectrum of Gould syndrome by providing detailed evidence of gastrointestinal venous abnormalities and highlights gastrointestinal bleeding as a potential underrecognized manifestation of COL4A1/2-related disease.

Congenital portosystemic shunts are rare developmental anomalies that permit portal blood to bypass hepatic filtration. We describe a novel gastrorenal shunt identified during routine cadaveric dissection. A large aberrant vein connecting the left renal vein directly to the left gastroepiploic vein, forming an unusual connection between the systemic and portal circulations. The portal venous system was otherwise intact, with no evidence of hepatic fibrosis or portal hypertension. This configuration does not conform to previously reported portosystemic shunt malformation patterns and is most consistent with a previously unreported variant of a Type II congenital extrahepatic portosystemic shunt.