Adams-Oliver syndrome is a rare, inherited disorder of embryologic development that affects multiple systems. Ocular manifestations have been poorly characterized due to the low prevalence and high mortality of the disease when it is associated with internal organ and/or ophthalmic manifestations. We present a case of Adams-Oliver syndrome in a 13-year-old patient whose multimodal retinal imaging findings helped direct management.

Case report reviewing medical records and imaging.

Single patient.

Visual acuity upon presentation was 20/40 in each eye. Ultra-widefield fluorescein angiography revealed peripheral non-perfusion with terminal vascular bulbs, as well as leakage from a temporal fibrovascular complex in the left eye. Fundus autofluorescence imaging showed hyperautofluorescence associated with optic disc drusen and the fibrovascular complex. Treatment with targeted laser photocoagulation was associated with regression of the neovascularization.

Retinal manifestations of Adams-Oliver syndrome as observed with ultra-widefield fundus imaging may resemble those of familial exudative vitreoretinopathy and retinopathy of prematurity. Treatment of avascular retina with panretinal photocoagulation can be considered.

Retinal manifestations of Adams-Oliver syndrome as observed with ultra-widefield fundus imaging may resemble those of familial exudative vitreoretinopathy and retinopathy of prematurity. Treatment of avascular retina with panretinal photocoagulation can be considered.

Double-needle intrascleral haptic fixation (Yamane) technique is a minimally invasive method for posterior chamber intraocular lens (IOL) fixation in the setting of absent or inadequate capsule support. A modified intravitreal needle technique is herein described for the management of three piece IOLs which are dislocated into the vitreous cavity.

In this technique, after completing pars plana vitrectomy, under the non-contact ophthalmomicroscope, the haptic of the dislocated IOL is docked directly in the vitreous cavity into a 27-G needle which is inserted through a transconjunctival tunneled scleral incision 2mm. from the corneal limbus, and externalized from the conjunctiva and fixated sclerally.

The technique is described with a case report. A male patient of 65 years old who underwent a complicated cataract surgery was operated using this technique. No peroperative or postoperative complication was seen.

In this technique, the dislocated IOL is not taken in the anterior segment before the scleral fixation. The haptics are threaded into the 27-G needle directly in the vitreous cavity during the vitrectomy. This is a short cut Yamane technique for posteriorly dislocated three-piece IOLs. This technique may shorten the surgical time, and minimize surgical trauma in cases with posteriorly dislocated three-piece IOL.

In this technique, the dislocated IOL is not taken in the anterior segment before the scleral fixation. The haptics are threaded into the 27-G needle directly in the vitreous cavity during the vitrectomy. This is a short cut Yamane technique for posteriorly dislocated three-piece IOLs. This technique may shorten the surgical time, and minimize surgical trauma in cases with posteriorly dislocated three-piece IOL.Spread Through Air Spaces (STAS) is a form of invasion characterized by neoplastic cell dissemination in the lung parenchyma surrounding the outer edge of the tumor. Its possible artifactual origin is widely debated in the literature. The aim of this study is to investigate the potential impact of gross sampling procedures in causing STAS. A prospective series of 51 surgical lung specimens was collected (35 adenocarcinomas, 68.6%; 13 squamous cell carcinomas, 25.5%; 2 large-cell neuroendocrine carcinomas, 3.9%; 1 atypical carcinoid, 2%). The fresh tissue was sectioned with a new and clean blade for each cut, to obtain a tissue slice comprising the upper lung parenchyma, the tumor, and the lower parenchyma. This slice was cut in half and separately processed. The same procedure was repeated in the residual (specular) specimen after formalin fixation. STAS was identified in 33/51 (64.7%) cases, the predominant pattern being cluster formation (29 cases, 87.9%), the remaining 4 cases having single-cell invasion. Comparing STAS detection in upper and lower lung parenchyma areas (ie, before and after the blade crossed the tumor), no significant preferential STAS distribution was observed, indeed being almost overlapping (60.6% and 63.6% for fresh and 61.3% and 65.6% for fixed tissues, respectively). There was no difference between STAS occurrence in freshly cut and fixed corresponding samples. These findings indicate that STAS is not a pathologist-related artifactual event because of knife transportation of tumor cells during gross specimen handling and support the notion that it is a phenomenon preexisting to surgical tissue processing.Medulloblastomas (MBs) are the most frequent childhood malignant brain tumor. Four histopathologic variants and 4 genetic subgroups have been defined in the World Health Organization (WHO) 2016 Classification and constitute major risk stratification items directly affecting the patient management. Although MB subgroups have been molecularly defined, immunohistochemical surrogates are needed. The aim of our retrospective study was to evaluate the concordance between immunohistochemistry, using 4 antibodies (YAP1, GAB1, OTX2, and β-catenin), and DNA-methylation profiling in MB subgrouping. From a series of 155 MBs, the κ coefficient of concordance was almost perfect (0.90), with only 8/152 discrepant cases (no DNA-methylation analysis was available in 3 cases). Interestingly, the discrepancies mostly concerned (7/8 cases) MBs with divergent differentiations (myogenic, melanotic, and others) with all of those classified into group 3 (n=6) and group 4 (n=1) by DNA-methylation profiling. Another discrepant case concerned a WNT-activated MB (showing only 1% of immunopositive tumor cell nuclei), highlighting the difficulties of determining an appropriate β-catenin immunostaining cutoff. The high concordance of the routine immunohistochemical panel (YAP1, GAB1, OTX2, and β-catenin) and DNA-methylation profiling confirm its utility as a reliable predictive marker of molecular subtype in MBs. We analyzed the accuracy of 10 different IHC combinations for the determination of MB subtype and found that a combination of 2 antibodies (YAP1 and OTX2) allows for the successful characterization of 144 cases of 152 cases. Finally, our series extends the molecular data of the rare morphologic variant of MBs with melanotic/myogenic differentiations.

In 2009, the World Health Organization (WHO) published the WHO Surgical Safety Checklist, and 3 years later, the Swiss Patient Safety Foundation adapted it for Switzerland. Several meta-analyses and systematic reviews showed ambiguous results on the effectiveness of surgical checklists. Most of them assume that the study checklists are almost identical, but in fact they are quite heterogeneous due to adaptations to local settings. This study aims to investigate the extent to which the checklists currently used in Switzerland differ and to discuss the consequences of local adaptations.

For the analysis, 24 checklists used in 18 Swiss hospitals are analyzed. First, general checklist characteristics are examined. Second, the checklist items are compared with the checklist items of the WHO and the Swiss Patient Safety Foundation.

The checklists contain a median of 34.5 items (range, 15-76). Compared with the checklists of WHO and Patient Safety Switzerland, which contain 12 and 21 process checks and 10 and iveness.

Malpractice litigation causes extreme stress. We examine the psychological impact of malpractice claims on physicians’ well-being and the consequences on patient care.

A confidential telephone survey, administered to physicians with both open and closed claims from the previous year, explored symptoms, well-being changes, needs, impairments, and practice changes.

Of the 282 respondents, more than half (56.38%) reported a notable psychological reaction to the malpractice claim, with no differences between the open and closed claims (P = 0.2477) or between closed claims with and without a payout (P = 1). Physicians facing criminal proceedings were more likely to experience a notable psychological impact (P = 0.0206). Almost half of the respondents (45.39%) acknowledged practice changes viewing patients as potential plaintiffs (45.39%), paying more attention to recordkeeping (42.19%), obtaining medicolegal training (37.94%), ordering more tests (36.17%), and avoiding specific kinds of patients (21.63%) or quality. Timely mental health referral paths could help mitigate the psychological impact and avoid the pernicious effects of negative practice changes.

Serious adverse events at out-of-hours services in primary care (OHS-PC) are rare, and the most often concern is missed acute coronary syndrome (ACS). Previous studies on serious adverse events mainly concern root cause analyses, which highlighted errors in the telephone triage process but are hampered by hindsight bias. This study compared the recorded triage calls of patients with chest discomfort contacting the OHS-PC in whom an ACS was missed (cases), with triage calls involving matched controls with chest discomfort but without a missed ACS (controls), with the aim to assess the predictors of missed ACS.

A case-control study with data from 2013 to 2017 of 9 OHS-PC in the Netherlands. The cases were matched 18 with controls based on age and sex. Clinical, patient, and call characteristics were univariably assessed, and general practitioner experts evaluated the triage while blinded to the final diagnosis or the case-control status.

Fifteen missed ACS calls and 120 matched control calls were included. Cases used less cardiovascular medication (38.5% versus 64.1%, P = 0.05) and more often experienced pain other than retrosternal chest pain (63.3% versus 24.7%, P = 0.02) compared with controls. Consultation of the supervising general practitioner (86.7% versus 49.2%, P = 0.02) occurred more often in cases than in controls. Experts rated the triage of cases more often as „poor” (33.3% versus 10.9%, P = 0.001) and „unsafe” (73.3% versus 22.5%, P < 0.001) compared with controls.

To facilitate learning from serious adverse events in the future, these should also be bundled and carefully assessed without hindsight bias and within the context of „normal” clinical practice.

To facilitate learning from serious adverse events in the future, these should also be bundled and carefully assessed without hindsight bias and within the context of „normal” clinical practice.Small-fiber neuropathy (SFN), characterized by distal unmyelinated/thinly-myelinated fiber loss, produces a combination of sensory dysfunction and neuropathic pain. Gain-of-function variants in the sodium channel Nav1.7 that produce DRG neuron hyperexcitability are present in 5-10% of patients with idiopathic painful SFN. We created two independent knock-in mouse-lines carrying the Nav1.7-I228M gain-of-function variant, found in idiopathic SFN. Whole-cell patch-clamp and multi-electrode-array recordings show that Nav1.7-I228M knock-in DRG neurons are hyperexcitable compared to wild-type littermate-control neurons, but in spite of this, Nav1.7-I228M mice do not display mechanical or thermal-hyperalgesia or intraepidermal nerve-fiber loss in vivo. Therefore, while these two Nav1.7-I228M knock-in mouse lines recapitulate the DRG neuron hyperexcitability associated with gain-of function mutations in Nav1.7, they do not recapitulate the pain or neuropathy phenotypes seen in patients. We suggest that the relationship between hyper-excitability in sensory neurons and the pain experienced by these patients may be more complex than previously appreciated and highlights the challenges in modelling channelopathy pain disorders in mice.