The Human Phenotype Ontology in 2024: phenotypes around the world.

The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs

Intraperitoneal drain placement and outcomes after elective colorectal surgery: international matched, prospective, cohort study

Despite current guidelines, intraperitoneal drain placement after elective colorectal surgery remains widespread. Drains were not associated with earlier detection of intraperitoneal collections, but were associated with prolonged hospital stay and increased risk of surgical-site infections.Background Many surgeons routinely place intraperitoneal drains after elective colorectal surgery. However, enhanced recovery after surgery guidelines recommend against their routine use owing to a lack of clear clinical benefit. This study aimed to describe international variation in intraperitoneal drain placement and the safety of this practice. Methods COMPASS (COMPlicAted intra-abdominal collectionS after colorectal Surgery) was a prospective, international, cohort study which enrolled consecutive adults undergoing elective colorectal surgery (February to March 2020). The primary outcome was the rate of intraperitoneal drain placement. Secondary outcomes included: rate and time to diagnosis of postoperative intraperitoneal collections; rate of surgical site infections (SSIs); time to discharge; and 30-day major postoperative complications (Clavien-Dindo grade at least III). After propensity score matching, multivariable logistic regression and Cox proportional hazards regression were used to estimate the independent association of the secondary outcomes with drain placement. Results Overall, 1805 patients from 22 countries were included (798 women, 44.2 per cent; median age 67.0 years). The drain insertion rate was 51.9 per cent (937 patients). After matching, drains were not associated with reduced rates (odds ratio (OR) 1.33, 95 per cent c.i. 0.79 to 2.23; P = 0.287) or earlier detection (hazard ratio (HR) 0.87, 0.33 to 2.31; P = 0.780) of collections. Although not associated with worse major postoperative complications (OR 1.09, 0.68 to 1.75; P = 0.709), drains were associated with delayed hospital discharge (HR 0.58, 0.52 to 0.66; P < 0.001) and an increased risk of SSIs (OR 2.47, 1.50 to 4.05; P < 0.001). Conclusion Intraperitoneal drain placement after elective colorectal surgery is not associated with earlier detection of postoperative collections, but prolongs hospital stay and increases SSI risk

Augmentation of occipitocervical contoured rod fixation with C1-C2 transarticular screws

Background context: The technique of occipitocervical fusion using a threaded contoured rod attached with sublaminar wires to the occiput and upper cervical vertebrae is widely used throughout the world and has been clinically proven to provide effective fixation of the destabilized spine. However, this system has some disadvantages in maintaining stability, especially at C1-C2 because of the large amount of axial rotation at this level. In some clinical situations such as fracture of the C1 lamina, C1 laminectomy, and excessively lordotic curvature, it is not always possible to wire C1 directly into the construct. In such cases, combination of other stabilization methods that include C1 indirectly can be used to achieve a reliable posterior internal fixation. Purpose: Primarily, to evaluate whether a contoured rod construct in which C1 is indirectly included using C1-C2 transarticular screws is biomechanically equivalent to a standard, fully wired contoured rod construct. Secondarily, to evaluate the biomechanical benefit of adding C1-C2 transarticular screws to a fully wired contoured rod construct. Study design: Repeated-measures nondestructive in vitro biomechanical testing of destabilized cadaveric human occipitocervical spine specimens. Methods: Six human cadaveric specimens from the occiput to C3 were studied. Angular and linear displacement data were recorded while nonconstraining nondestructive loads were applied. Three methods of fixation were tested: contoured rod incorporating C1 with and without transarticular screws and contoured rod with transarticular screws without incorporating C1. Results: All three constructs reduced motion to well within normal range. In contoured rod constructs with C1 wired, addition of transarticular screws slightly but significantly improved stability. In constructs with transarticular screws, incorporation of C1 into the contoured rod wiring did not improve stability significantly. Conclusions: Adding C1-C2 transarticular screws to a wired contoured rod construct where C1 is included only slightly improves stability. As the absolute reduction in motion from adding transarticular screws is small (\u3c1 degree), it is doubtful whether any enhanced fusion from this additional procedure outweighs the surgical risks. However, transarticular screws provide an effective alternate method to fixate C1 when the posterior arch of C1 is absent or has been fractured. © 2007 Elsevier Inc. All rights reserved

Biomechanics of unilateral compared with bilateral lumbar pedicle screw fixation for stabilization of unilateral vertebral disease: Laboratory investigation

Object. An in vitro flexibility experiment was performed to compare the biomechanical stability of asymmetrical lumbar pedicle screw fixation (longer hardware attached ipsilaterally to a 1-sided lesion), short and long fixation, and fixation with and without interconnection to the involved vertebra. Methods. Seven human cadaveric specimens (T12-S1) were studied intact; after simulated unilateral lesions were created at L2-3 and L3-4, the segments were stabilized by 1) L2-4 unilateral fixation (L-3 excluded), 2) L2-4 bilateral fixation (L-3 included contralaterally), 3) L2-5 unilateral fixation (L-3 excluded), 4) L2-5 fixation ipsilateral (L-3 excluded) and L2-4 fixation contralateral (L-3 included), 5) L2-5 bilateral fixation (L-3 included contralaterally), and 6) L2-5 bilateral fixation (L-3 excluded). The testing order varied among specimens. Angular range of motion (ROM) and lax zone were recorded optically while loading to 6.0 Nm was created with nonconstraining pure moments. Results. Unilateral short fixation provided significantly worse stabilization than any other construct tested in all loading modes (p \u3c 0.05, repeated-measures analysis of variance). There was a mean 56% reduction in ROM across the lesion after adding 1 additional level rostrally and caudally. Asymmetrical long/short stabilization provided similar stability to symmetrical long stabilization. Minimal additional stability was gained by including L-3 in the long bilateral fixation construct. Conclusions. Unilateral fixation is inadequate for stabilizing a 2-level unilateral lesion. Bilateral fixation, whether symmetrical or asymmetrical, provides good stabilization for this injury. It is not important for stability to include the level of the lesion within the long construct contralaterally

Occipitocervical vertical distraction injuries: Anatomical biomechanical, and 3-tesla magnetic resonance imaging investigation

Study Design.: Biomechanical load-to-failure findings correlated with anatomic dissection measurements and intact (prefailure) 3-Tesla (3-T) magnetic resonance images (MRI). Objective.: To better understand why the same distractive force to the head can result in occipitoatlantal dislocation (OAD) in some individuals and atlantoaxial dislocation (AAD) in others. Summary of background data.: Distraction injuries to the cranio-vertebral junction have been studied biomechanically but have not been studied relative to ligamentous anatomic variations. We theorized that morphologic variations in the ligaments should influence the injury pattern during axial distraction. Methods.: After obtaining 3-T MRI scans, 10 occiput-C2 specimens were loaded to failure under axial tension. Direct anatomic measurements were also obtained from the distracted and injured specimens. Results.: AAD was observed in 7 specimens (mean force ± standard deviation 1229 ± 181 N) at a significantly higher magnitude than OAD, which was observed in 3 specimens (823 ± 127 N; P = 0.009, nonpaired t test). In OAD specimens, the superior cruciate ligament (SCL), which was smaller than the inferior cruciate ligament (ICL), failed. The apical ligament was unidentifiable in these 3 specimens. In 5 of the 7 AAD specimens, the ICL ruptured and was smaller than the SCL. In the remaining 2 specimens, both SCL and ICL ruptured. The apical ligament, which ruptured, was identifiable in all 7 specimens. Conclusion.: Axial distraction across the cranio-vertebral junction can produce either OAD or AAD. The SCL and ICL dimensions, alar ligament orientations, and apical ligament presence may affect the injury site. Visualization with 3-T MRI allows better understanding of the injury mechanism and location, which is important clinically in selecting single- or multilevel fixation. © 2008, Lippincott Williams & Wilkins

Pullout resistance of thoracic extrapedicular screws used as a salvage procedure

Background context: Extrapedicular screws are placed more laterally than intrapedicular screws and pass through the transverse process or rib head before entering the vertebral body. These screws are sometimes placed to salvage failed pedicle screws, but the change in pullout resistance of extrapedicular screws after salvage has not been quantified. Purpose: To quantify the pullout resistance of thoracic extrapedicular screws compared with intrapedicular screws and the pullout resistance of newly inserted screws compared with extrapedicular screws used as salvage for failed intrapedicular screws. Study design: In vitro paired comparison of screw pullout resistance in isolated thoracic vertebrae. Methods: Tapered monoaxial pedicle screws were inserted in the left or right pedicle of 11 human cadaveric thoracic vertebrae. An extrapedicular screw was inserted on the contralateral side. Both screws were pulled out axially at 0.5 mm/s using a servohydraulic test frame while applied load was recorded. Then a fresh extrapedicular screw was inserted as a salvage screw on the intrapedicular screw side and pulled out. Results: In uncompromised vertebrae, the pullout strength of extrapedicular screws was 80±32% of that of intrapedicular screws (p=.073, repeated-measures one-way analysis of variance/Tukey). Salvage screws restored pullout strength to 65±30% of that of intrapedicular screws (p=.003). Conclusions: Extrapedicular screws provided comparable but slightly lower pullout resistance to intrapedicular screws in uncompromised vertebrae. They are therefore a feasible salvage technique when a compromised pedicle precludes reinsertion of an intrapedicular screw, but the salvage screw is significantly weaker than the original screw. © 2007 Elsevier Inc. All rights reserved

Trajectory Analysis and Pullout Strength of Self-Centering Lumbar Pedicle Screws: Laboratory Investigation

Object. An experiment was performed to study the limits of the ability of screws designed to center themselves in the pedicle during insertion, and to study whether straight-ahead versus inward screw insertion trajectories differ in their resistance to pullout. Methods. Forty-nine human cadaveric lumbar vertebrae were studied. Pedicle screws were inserted in trajectories starting 0°, 10°, 20°, or 30° from the optimal trajectory, either medially or laterally misdirected. The surgeon then inserted the screw with forward thrust but without resisting the screw\u27s tendency to reorient its own trajectory during insertion. On the opposite pedicle, a control screw was inserted with the more standard inward-angled anatomical trajectory and insertion point. Cortical wall violation during insertion was recorded. Screws were then pulled out at a constant displacement rate while ultimate strength was recorded. Results. Lateral misdirection as small as 10° was likely to lead to cortical wall violation (3 of 7 violations). Conversely, medial misdirection usually resulted in safe screw insertion (1 of 21 violations for 10°, 20°, or 30° medial misdirection). The resistance to pullout of screws inserted in a straight-ahead trajectory did not differ significantly from that of screws inserted along an inward trajectory (p = 0.68). Conclusions. Self-tapping, self-drilling pedicle screws can redirect themselves to a much greater extent during medial than during lateral misdirection. The cortical wall is more likely to be violated laterally than medially. The strength of straight-ahead and inward trajectories was equivalent

Biomechanical comparison of occipitoatlantal screw fixation techniques: Laboratory investigation

Object. The stability provided by 3 occipitoatlantal fixation techniques (occiput [Oc]-C1 transarticular screws, occipital keel screws rigidly interconnected with C-1 lateral mass screws, and suboccipital/sublaminar wired contoured rod) were compared. Methods. Seven human cadaveric specimens received transarticular screws and 7 received occipital keel-C1 lateral mass screws. All specimens later underwent contoured rod fixation. All conditions were studied with and without placement of a structural graft wired between the skull base and C-1 lamina. Specimens were loaded quasistatically using pure moments to induce flexion, extension, lateral bending, and axial rotation while recording segmental motion optoelectronically. Flexibility was measured immediately postoperatively and after 10,000 cycles of fatigue. Results. Application of Oc-C1 transarticular screws, with a wired graft, reduced the mean range of motion (ROM) to 3% of normal. Occipital keel-C1 lateral mass screws (also with graft) offered less stability than transarticular screws during extension and lateral bending (p \u3c 0.02), reducing ROM to 17% of normal. The wired contoured rod reduced motion to 31% of normal, providing significantly less stability than either screw fixation technique. Fatigue increased motion in constructs fitted with transarticular screws, keel screws/lateral mass screw constructs, and contoured wired rods, by means of 19, 5, and 26%, respectively. In all constructs, adding a structural graft significantly improved stability, but the extent depended on the loading direction. Conclusions. Assuming the presence of mild C1-2 instability, Oc-C1 transarticular screws and occipital keel-C1 lateral mass screws are approximately equivalent in performance for occipitoatlantal stabilization in promoting fusion. A posteriorly wired contoured rod is less likely to provide a good fusion environment because of less stabilizing potential and a greater likelihood of loosening with fatigue

In vitro biomechanical analysis of a new lumbar low-profile locking screw-plate construct versus a standard top-loading cantilevered pedicle screw-rod construct: Technical report

Objective: A standard top-loading lumbar pedicle screw-rod system is compared with a pedicle screw-plate system with smaller-diameter screws, more medial entry, and lower profile to assess the relative stability, strength, and resistance to fatigue of the 2 systems. Methods: Seven human cadaveric specimens were studied with each surgical construct. Nondestructive, nonconstraining pure moments were applied to specimens to induce flexion, extension, lateral bending, and axial rotation while recording L5-S1 motion optoelectronically. After initial tests, specimens were fatigued for 10 000 cycles and retested to assess early postoperative loosening. Specimens were then loaded to failure in hyperextension. Results: The standard screw-rod construct reduced range of motion to a mean of 20% of normal, whereas the screw-plate construct reduced range of motion to 13% of normal. Differences between systems were not significant in any loading mode (P \u3e 0.06). The 14% loosening of the screw-rod system with fatigue was not significantly different from the 10% loosening observed with the screw-plate system (P \u3e 0.15). Mean failure loads of 30 Nm for screw-rod and 37 Nm for screw-plate were also not significantly different (P = 0.38). Conclusion: Posterior fixation at L5-S1 using the low-profile screw-plate system offers stability, resistance to fatigue, and resistance to failure equivalent to fixation using a standard cantilevered pedicle screw-rod system. Copyright © 2010 by the Congress of Neurological Surgeons