Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals.

PURPOSE: To explore the frequency and positions of genetic mutations in CYP1B1 and FOXC1 in a Japanese population. STUDY DESIGN: Molecular genetic analysis. METHODS: Genomic DNA was extracted from 31 Japanese patients with childhood glaucoma (CG) from 29 families. We examined the CYP1B, FOXC1, and MYOC genes using Sanger sequencing and whole-exome sequencing (WES). RESULTS: For CYP1B1, we identified 9 families that harbored novel mutations, p.A202T, p.D274E, p.Q340*, and p.V420G; the remaining mutations had been previously reported. When mapped to the CYP1B1 protein structure, all mutations appeared to influence the enzymatic activity of CYP1B1 by provoking structural deformity. Five patients were homozygotes or compound heterozygotes, supporting the recessive inheritance of the CYP1B1 mutations in CG. In contrast, four patients were heterozygous for the CYP1B1 mutation, suggesting the presence of regulatory region mutations or strong modifiers. For the FOXC1 gene, we identified 3 novel mutations, p.Q23fs, p.Q70R, and p.E163*, all of which were identified in a heterozygous state. No mutation was found in the MYOC gene in these CG patients. All individuals with CYP1B1 and FOXC1 mutations were severely affected by early-onset CG. In the CYP1B1-, FOXC1-, and MYOC-negative families, we also searched for variants in the other candidate genes reported for CG through WES, but could not find any mutations in these genes. CONCLUSIONS: Our analyses of 29 CG families revealed 9 families with point mutations in the CYP1B1 gene, and four of those patients appeared to be heterozygotes, suggesting the presence of complex pathogenic mechanisms. FOXC1 appears to be another major causal gene of CG, indicating that panel sequencing of CYP1B1 and FOXC1 will be useful for diagnosis of CG in Japanese individuals.

Combination of reduced post-transplant cyclophosphamide and early tacrolimus initiation increases the incidence of chronic graft-versus-host disease in human leukocyte antigen-haploidentical peripheral blood stem-cell transplantation.

We evaluated the clinical impacts of the concurrent modification of post-transplant cyclophosphamide (PTCy) dose and tacrolimus (Tac)-initiation timing in 61 patients with human leukocyte antigen-haploidentical transplantation. Reduced-dose PTCy (80 mg/kg) was associated with a higher incidence of moderate-to-severe chronic graft-versus-host disease (GVHD) than standard-dose PTCy (100 mg/kg) (35.0% vs. 26.6%, p = 0.053). Notably, early-initiation Tac (day -1) increased moderate-to-severe chronic GVHD than standard-initiation Tac (day 5) in the reduced-dose PTCy group (p = 0.032), whereas Tac-initiation timing did not impact chronic GVHD in the standard-dose PTCy group. These data indicate that the combination of reduced-dose PTCy and early-initiation Tac can amplify chronic GVHD.

Removal of Subinternal Limiting Membrane Hemorrhage Secondary to Valsalva Retinopathy Using a Fovea-Sparing Internal Limiting Membrane Fissure Creation Technique.

Introduction: Valsalva retinopathy can cause submacular hemorrhage (SMH), which may lead to visual disturbances. SMH can extend into the subinternal limiting membrane (ILM) and vitreous spaces, sometimes occurring concomitantly with full-thickness macular holes (FTMHs). Herein, we describe a case in which sub-ILM hemorrhage was removed without peeling the ILM of the central fovea, thus preserving the foveal ILM. Case Presentation: A 48-year-old female patient developed rapid-onset bilateral visual impairment due to SMH secondary to Valsalva retinopathy. The SMH predominantly consisted of sub-ILM hemorrhage. However, detailed observation was challenging due to the dense sub-ILM hemorrhage in the left eye. Initial best-corrected visual acuity (BCVA) in the right and left eyes were 1.2 and 0.03, respectively. Intravitreal tissue plasminogen activator (tPA) and sulfur hexafluoride (SF6) gas injections were initially administered to displace the SMH in the left eye; however, the SMH could not be successfully displaced. A vitrectomy was then performed. Intraoperatively, an ILM fissure beyond the foveal region was created using ILM forceps. The balanced salt solution was sprayed onto the ILM, and the sub-ILM hemorrhage was drained into the vitreous cavity from the ILM fissure. The surgery successfully displaced the sub-ILM hemorrhage while preserving the foveal ILM. No postoperative complications were observed. Visual acuity remained at 1.2 in the right eye and improved to 1.2 in the left eye 6 months postoperatively. Conclusion: Removing foveal sub-ILM hemorrhage without peeling the foveal ILM can be a viable treatment option to preserve the foveal ILM.

Assessment of Obesity as Risk Factor of Lumbar Disc Surgery: Retrospective Analysis of 598 Cases and Simulated Surgery on 3D-Printed Models.

(1) Background: Obesity poses known risks in surgery, including a prolonged operation time and postoperative complications. Given the rising obesity rates and frequent lumbar disc surgeries, understanding these risks is crucial. This study aims to assess the impact of obesity on operation duration and postoperative complications in lumbar disc prolapse surgery. (2) Methods: We retrospectively analyzed 598 patients with monosegmental disc herniation, correlating their body mass index (BMI) as a surrogate parameter for obesity with operation time. Excluding complex cases (multi-segmental herniations or recurrent herniations), complication rates and hospital stays were recorded. Simulated surgeries on 3D-printed models of varying obesity levels examined operation times and instrument suitability. (3) Results: Of these patients, 438 patients had a BMI of <30, and 160 patients had a BMI of ≥30. Complication rates showed no significant differences between groups. Linear regression analysis failed to establish a sole dependency of operation time on BMI, with R2 = 0.039 for the normal-weight group (BMI < 30) and R2 = 0.059 for the obese group (BMI ≥ 30). The simulation operations on the 3D-printed models of varying degrees of obesity showed a significant increase in the simulated operation time with higher levels of obesity. A geometrically inadequate set of surgical instruments was assumed to be a significant factor in the simulated increase in operating time. (4) Conclusions: While various factors influence operation time, obesity alone does not significantly increase it. However, simulated surgeries highlighted the impact of obesity, particularly on instrument limitations. Understanding these complexities is vital for optimizing surgical outcomes in obese patients.

Optimal timing of bridging annuloplasty and patch augmentation for heterotaxy syndrome associated with functional single ventricles.

OBJECTIVE: Although the challenging prognosis of functional single ventricles with common atrioventricular valves due to complex morphology and uncontrollable regurgitation by valvuloplasty has been highlighted, reports on when and how these extremely complicated atrioventricular valves should be repaired are few. This study investigated the timing and risk factors for valve intervention in these patients. METHODS: Between April 2006 and March 2023, 40 patients with heterotaxy syndrome associated with functional single ventricles underwent surgery. Valve intervention was performed in 14 of the 40 patients with moderate or severe atrioventricular valve regurgitation. RESULTS: The timing of the first valve intervention varied, with four, five, three, and two patients undergoing valve intervention before the cavopulmonary shunt, simultaneously with the cavopulmonary shunt, before total cavopulmonary connection, and simultaneously with total cavopulmonary connection, respectively. Mechanical valve replacements were performed in three patients. Among the 14 patients undergoing valve intervention, four died. Three of the four patients underwent valvuloplasty before the cavopulmonary shunt, including two who could undergo the cavopulmonary shunt but died after the procedure. Eight of the fourteen patients completed total cavopulmonary connection. The cumulative survival rate was not significantly different between the 14 patients who underwent and 26 who did not undergo intervention (hazard ratio, 2.52; 95% confidence interval, 0.56-11.24; P = 0.23). CONCLUSION: Our surgical strategies provide a chance for the next staged repair of common atrioventricular valves in patients with both heterotaxy and valvular regurgitation. Including patch augmentation, advanced valve intervention is possible at or after the cavopulmonary shunt.

Extended Long-Term Outcome After Conservative Decompressive Microsurgery and Routine Adjuvant Fractionated Stereotactic Radiotherapy for Symptomatic Cavernous Sinus Meningiomas.

BACKGROUND AND OBJECTIVES: Cavernous sinus meningiomas (CSM) pose one of the most difficult to treat subgroup of skull base meningiomas. The purpose of this study was to evaluate the efficacy of an interdisciplinary treatment approach for symptomatic CSM which incorporated conservative function preserving microsurgery and routine adjuvant fractionated stereotactic radiotherapy (FSRT). METHODS: A homogenous group of patients with symptomatic primary CSM with extracavernous extension was treated between 2005 and 2012. All patients were available for a minimum follow-up of 5 years. Clinical follow-up included detailed examination of oculomotor deficits, visual status, and endocrinologic function. Radiologic follow-up was conducted by tumor volumetry. RESULTS: Overall, 23 patients were included in this study (78.3% women; median age 58 years). Diplopia was the most common presenting symptom, followed by headache and visual disturbances. Surgical morbidity was low (3/23; 13%). FSRT was applied after a median of 2 months after surgery. At a median clinical follow-up of 113 months, 70.45% of the presenting symptoms had improved, 25% remained unchanged, and in 2 cases (4.54%), worsening occurred. Overall tumor regression was evident in 19/21 World Health Organization 1 and in 1/2 of World Health Organization 2 CSM, respectively, at a median radiological follow-up of 103 months. CONCLUSION: Our findings demonstrate the efficacy of an interdisciplinary treatment approach for symptomatic primary CSM with extracavernous extension with decompression of neurovascular elements followed by FSRT. Precise preoperative planning and intraoperative decision making in combination with routine postoperative radiotherapy can achieve excellent tumor control, improve neurologic function, and minimize long-term morbidity.

DISCREPANCY BETWEEN FUNDUS AUTOFLUORESCENCE ABNORMALITY AND VISUAL FIELD LOSS IN BIETTI CRYSTALLINE DYSTROPHY.

PURPOSE: The aim of this study was to explore the potential benefits of retinal pigment epithelium replacement therapy in patients with Bietti crystalline dystrophy (BCD) by assessing the disease pathology with the distinctive relationship between fundus autofluorescence (FAF) abnormality and visual field defect. METHODS: Sixteen eyes from 16 patients with BCD and 16 eyes from 16 patients with RHO-associated retinitis pigmentosa were included. Fundus autofluorescence, optical coherence tomography, and Goldmann perimetry results were retrospectively reviewed and assessed using image analyses. RESULTS: In patients with BCD, the FAF abnormality area was not correlated with the overall visual field defect area and median overall visual field defect area (57.5%) was smaller than FAF abnormality area (98.5%). By contrast, the ellipsoid zone width was significantly correlated with the central visual field area (r = 0.806, P < 0.001). In patients with RHO-associated retinitis pigmentosa, the FAF abnormality area and ellipsoid zone width were significantly correlated with the overall visual field defect area (r = 0.833, P < 0.001) and central visual field area (r = 0.887, P < 0.001), respectively. CONCLUSION: The FAF abnormality shown in patients with BCD involves retinal pigment epithelium degeneration without complete loss of photoreceptors or visual function. These results suggest that patients with BCD are good candidates for retinal pigment epithelium replacement therapy for preservation of residual visual function.

Does 5-ALA Fluorescence Microscopy Improve Complete Resectability in Cerebral/Cerebellar Metastatic Surgery? A Retrospective Data Analysis from a Cranial Center.

(1) Background: In this study, the intraoperative fluorescence behavior of brain metastases after the administration of 5-aminolevulinic acid (5-ALA) was analyzed. The aim was to investigate whether the resection of brain metastases using 5-ALA fluorescence also leads to a more complete resections and thus to a prolongation of survival; (2) Methods: The following variables have been considered: age, sex, number of metastases, localization, involvement of eloquent area, correlation between fluorescence and primary tumor/subtype, resection, and survival time. The influence on the degree of resection was determined with a control MRI within the first three postoperative days; (3) Results: Brain metastases fluoresced in 57.5% of cases. The highest fluorescence rates of 73.3% were found in breast carcinoma metastases and the histologic subtype adenocarcinoma (68.1%). No correlation between fluorescence behavior and localization, primary tumor, or histological subtype was found. Complete resection was detected in 82.5%, of which 56.1% were fluorescence positive. There was a trend towards improved resectability (increase of 12.1%) and a significantly longer survival time (p = 0.009) in the fluorescence-positive group; (4) Conclusions: 5-ALA-assisted extirpation leads to a more complete resection and longer survival and can therefore represent a low-risk addition to modern surgery for brain metastases.

A case of pulmonary tuberculosis that developed during nivolumab and ipilimumab treatment for pulmonary adenocarcinoma that recurred two months after completion of anti-tuberculous treatment.

BACKGROUND: Immune checkpoint inhibitors (ICIs) have become key agents in the treatment of non-small cell lung cancer worldwide. However, immune-related adverse events (irAEs) must be addressed to maximize the efficacy of ICIs. Mycobacterium tuberculosis (Mtb) infection is considered as a type of irAE associated with ICIs, but the underlying mechanism is not completely understood. Here, we present a case of pulmonary tuberculosis (TB) that developed during administration of nivolumab and ipilimumab for pulmonary adenocarcinoma that recurred just 2 months after completion of anti-TB treatment. CASE DESCRIPTION: A 67-year-old man with lung adenocarcinoma was referred to our hospital for chemotherapy. He was a former smoker and had been diagnosed with stage IVA (cT4N1M1a) lung adenocarcinoma. Interferon-gamma release assay (IGRA) yielded positive results at the start of treatment. One month after initiating treatment with nivolumab and ipilimumab, he presented with productive cough and Mtb complex was cultured from sputum samples. Two months after completing anti-TB treatment, recurrence of TB was observed. The series of strains were found to be identical. CONCLUSIONS: This represents the first report of pulmonary TB that developed during nivolumab and ipilimumab treatment, and recurred 2 months after completing anti-TB treatment. Physicians should be mindful of the potential for TB recurrence following the use of ICIs, particularly in patients showing positive results from IGRA.

Acute Noninfectious Anterior Ocular Inflammation Following Ranibizumab Biosimilar Intravitreal Injection in a Patient With Recent COVID-19 Vaccination.

Even in the post-coronavirus disease 2019 (COVID-19) era, it is prudent to exercise caution regarding the timing between intravitreal anti-vascular endothelial growth factor (VEGF) injections and COVID-19 vaccinations, as ocular inflammation can occur following both procedures. However, this perspective has not been sufficiently discussed thus far. Herein, we report a case of acute noninfectious anterior ocular inflammation following an intravitreal injection of ranibizumab biosimilar (RBZ BS, Senju Pharmaceuticals, Japan) in a patient recently vaccinated against COVID-19. A 74-year-old male with myopic choroidal neovascularization (CNV) in the left eye was treated with RBZ BS intravitreal injection. He received his fourth COVID-19 vaccination with messenger ribonucleic acid (mRNA)-1273 (Moderna) two days prior to his second RBZ BS intravitreal injection. He reported no systemic symptoms associated with the fourth COVID-19 vaccination. The second RBZ BS intravitreal injection was safely performed without complications. However, a few hours later, he experienced blurred vision without ocular pain in his left eye, a symptom not observed after the first injection. He visited a local ophthalmologic clinic the following day and was subsequently referred to our hospital due to anterior ocular inflammation in the left eye. His vision in the left eye was 0.3 decimal best-corrected visual acuity. Examination revealed non-granulomatous anterior ocular inflammation with 3+ cells and 2+ flare in the left eye. Anterior vitreous inflammation, keratic precipitates, or conjunctivitis was absent. Fundus examination also showed no signs of posterior inflammation. Both fluorescence angiography and indocyanine green angiography revealed staining corresponding to CNV without retinal vasculature leakage. There is nothing abnormal with the right eye based on the examination. Given that the noninfectious ocular inflammation was likely, based on the acute onset of symptoms within less than 24 hours following the RBZ BS intravitreal injection, and the presence of non-granulomatous inflammation only in the anterior segment without ocular pain, betamethasone eye drops four times daily was initiated in the left eye on the first day following the second RBZ BS intravitreal injection. Then, his ocular inflammation improved to mild by the fourth day post-injection. His eye eventually cleared, with no cells or flare in the anterior chamber at five months. Eventually, given the clinical course of good response to only topical steroid therapy, the diagnosis of noninfectious anterior ocular inflammation following RBZ BS in the case of a recent episode of COVID-19 vaccination was retrospectively confirmed. Although this case represents one of the initial instances of noninfectious ocular inflammation following RBZ BS (Senju Pharmaceuticals) administration, sterile ocular inflammation after other intravitreal anti-VEGF therapy has already been well-reported. In addition, given the recent COVID-19 vaccination, the ocular inflammation might be influenced by the vaccination, synergistically leading to vaccine-associated uveitis with similar signs and symptoms. In conclusion, to prevent such a complex situation, it is advisable to consider an adequate interval between COVID-19 vaccination and intravitreal anti-VEGF injections.

Efficacy and Safety of Upadacitinib Plus Intensive Granulocyte and Monocyte Adsorptive Apheresis as Induction for Intractable Ulcerative Colitis.

Monotherapy with a selective Janus kinase (JAK) inhibitor or intensive granulocyte and monocyte adsorptive apheresis (GMA) has been limited to patients with intractable ulcerative colitis (UC). No previous reports have described the efficacy including histopathological evaluations and the safety of combination therapy with upadacitinib (UPA) plus intensive GMA (two sessions per week) for intractable UC showing resistance to conventional agents and adalimumab. This retrospective study evaluated the 10-week clinical and histopathological efficacy of induction combination therapy with UPA plus intensive GMA in patients with intractable UC. Among eight patients (moderate UC, n = 1; severe UC, n = 7) who received combination therapy with UPA plus intensive GMA, 50.0% had achieved clinical remission by 10 weeks. Percentages of patients with histological-endoscopic mucosal improvement and mucosal healing at 10 weeks were 62.5% and 12.5%, respectively. After excluding one patient who discontinued treatment by week 10 because of intolerance for UPA, mean full Mayo score, endoscopic subscore and C-reactive protein concentration at baseline were 11.43 ± 0.37, 3 ± 0 and 1.29 ± 0.70 mg/dL, respectively. Corresponding values at 10 weeks were 2.28 ± 0.77 (P < 0.03), 1.14 ± 0.34 (P < 0.03) and 0.03 ± 0.008 mg/dL (P < 0.05), respectively. Adverse events of herpes zoster, temporary increase in creatinine phosphokinase and anemia were observed in one patient each. One patient discontinued combination therapy at week 4 because of temporary taste abnormality due to UPA. Combination comprising UPA plus intensive GMA appears likely to achieve satisfactory induction of clinical remission and histopathological improvement for patients with intractable UC for whom conventional agents and anti-tumor necrosis factor-α antibody have failed.

Association between mean airway pressure during high-frequency oscillatory ventilation and pulmonary air leak in extremely preterm infants during the first week of life.

Background: While positive pressure ventilation has been considered an important contributing factor associated with pulmonary air leaks, studies examining the association between specific ventilatory settings during acute-phase high-frequency oscillatory ventilation (HFOV) and pulmonary air leaks among extremely preterm infants are limited. Methods: This was a single-center retrospective cohort study conducted at an institution that primarily used HFOV after intubation in extremely preterm infants. We analyzed data from extremely preterm infants born between 2010 and 2021. The primary outcome was pulmonary air leakage during the first 7 days of life. The exposure variable was the maximum mean airway pressure (MAP) on HFOV during the first 7 days of life or before the onset of pulmonary air leaks. Maximum MAP was categorized into three groups: low (7-10 cmH2O), moderate (11-12 cmH2O), and high (13-15 cmH2O) MAP categories. We conducted robust Poisson regression analyses after adjustment for perinatal confounders, using the low MAP category as the reference. Results: The cohort included 171 infants (low MAP, 123; moderate MAP, 27; and high MAP, 21). The median (interquartile range) gestational age and birth weight were 25.7 (24.3-26.7), 25.7 (24.9-26.9), and 25.3 (24.3-26.6) weeks and 760 (612-878), 756 (648-962), and 734 (578-922) g for infants in the low, moderate, and high MAP categories, respectively. Compared to infants in the low MAP category, those in the high MAP category had a higher incidence of pulmonary air leaks (4.1% vs. 33.3%; adjusted risk ratio, 5.4; 95% confidence interval, 1.6-18.5). In contrast, there was no clear difference in the risk of pulmonary air leaks between the moderate and low MAP categories (3.7% vs. 4.1%; adjusted risk ratio, 0.9; 95% confidence interval, 0.1-6.1). Conclusion: Extremely preterm infants requiring high MAP (≥13 cmH2O) in acute-phase HFOV had a higher risk of pulmonary air leak during the first 7 days of life.

Late-onset Rupture of the Intrahepatic Pseudoaneurysm Developed by Endoscopic Ultrasonography-guided Hepaticogastrostomy: A Case Report and Literature Review.

Endoscopic ultrasonography-guided hepaticogastrostomy (EUS-HGS) has emerged as an alternative drainage technique for patients with malignant biliary obstruction. However, few reports have discussed the occurrence of late-onset rupture of hepatic artery pseudoaneurysms following EUS-HGS. A recently available drill dilator equipped with a long screw segment was used in the dilation step of EUS-HGS. We highlight the potential concern that this long screw segment may increase the risk of damage to the hepatic artery, leading to late-onset life-threatening rupture of a pseudoaneurysm.

Ergonomic benefit using heads-up display compared to conventional surgical microscope in Japanese ophthalmologists.

PURPOSE: Occupational musculoskeletal disorders are prevalent in ophthalmic surgeons and can impact surgeons' well-being and productivity. Heads-up displays may reduce ergonomic stress compared to conventional microscopes. This cross-sectional, non-interventional study compared ergonomic experience between heads-up display and conventional ocular microscopes. METHODS: The study protocol was approved by the independent ethics committee and nonprofit organization MINS Institutional Review Board. An online questionnaire was distributed to a sample of ophthalmic surgeons in Japan with experience operating with heads-up display. The questionnaire captured surgeon-specific variables, the standardized Nordic Musculoskeletal Questionnaire, and custom questions to compare heads-up display and conventional microscope and understand long-term impacts of musculoskeletal disorders. RESULTS: Analysis was conducted on responses from 67 surgeons with a mean 25 years of practice and 2.7 years using heads-up display. Many surgeons agreed or strongly agreed that heads-up display reduced the severity (40%) and frequency (40%) of pain and discomfort, improved posture (61%), and improved overall comfort (61%). Of respondents who experienced asthenopia (n = 59) or pain/discomfort during operation (n = 61), 54% reported improvement in asthenopia and 72% reported feeling less pain/discomfort since using heads-up display. Overall, 69% reported preference for heads-up display. CONCLUSION: This study provides novel data on musculoskeletal disorders and the long-term impacts of ergonomic strain reported by ophthalmologists building on existing literature demonstrating ergonomic and other advantages of heads-up display. Future studies with objective ergonomic assessment are warranted to validate these findings.

Does salivary pH affect postoperative sore throat in the head-down position of general anesthesia?

BACKGROUND: Tracheal intubation sometimes causes postoperative sore throat (POST) due to laryngeal damage. However, clinical observations suggest that the environment of the oral cavity may also affect POST. OBJECTIVE: The purpose of this study was to investigate whether salivary pH in the oral cavity affects POST. METHODS: After obtaining ethical approval, informed consent was obtained from all patients. Patients who underwent surgery in the supine position were enrolled as the control group. Patients who underwent laparoscopic surgery in the head-down position were enrolled as the intervention group. Immediately before both groups of patients were anaesthetised, expelled saliva was collected, and salivary pH was measured. Immediately postoperatively, the same measurement was carried out before the patient regained consciousness. The primary outcome was the change in salivary pH. The secondary outcome was POST. In our study, POST was defined as pharyngeal and swallowing pain in the glossopharyngeal and superior laryngeal nerves. The normal distribution of pH was tested using the Shapiro-Wilk test followed by analysis using repeated-measurements and one-way analysis of variance. Statistical significance was set at p < .05. RESULTS: A total of 62 patients were enrolled, of whom two were excluded based on the exclusion criteria. Salivary pH in the intervention group was significantly lower than that in the control group. Five patients had POST in the intervention group, whereas none had POST in the control group had POST. CONCLUSION: Acidotic-shifted saliva is considered one of the causes of POST.

Comparative Anatomic Analysis of Neuronavigated Transmastoid-Infralabyrinthine Approaches for Jugular Fossa Pathologies: Short Anterior Rerouting Versus Nonrerouting and Tailored Nonrerouting Techniques.

BACKGROUND AND OBJECTIVES: Access to the jugular fossa pathologies (JFPs) via the transmastoid infralabyrinthine approach (TI-A) using the nonrerouting technique (removing the bone anterior and posterior to the facial nerve while leaving the nerve protected within the fallopian canal) or with the short-rerouting technique (rerouting the mastoid segment of the facial nerve anteriorly) has been described in previous studies. The objective of this study is to compare the access to Fisch class C lesions (JFPs extending or destroying the infralabyrinthine and apical compartment of the temporal bone with or without involving the carotid canal) between the nonrerouting and the short-rerouting techniques. Also, some tailored steps to the nonrerouting technique (NR-T) were outlined to enhance access to the jugular fossa (JF) as an alternative to the short-rerouting technique. METHODS: Neuronavigated TI-A was performed using the nonrerouting, tailored nonrerouting, and short-rerouting techniques on both sides of 10 human head specimens. Exposed area, horizontal distance, surgical freedom, and horizontal angle were calculated using vector coordinates for nonrerouting and short-rerouting techniques. RESULTS: The short-rerouting technique had significantly higher values than the NR-T ( P < .01) for the exposed area (169.1 ± SD 11.5 mm 2 vs 151.0 ± SD 12.4 mm 2 ), horizontal distance (15.9 ± SD 0.6 mm vs 10.6 ± SD 0.5 mm 2 ), surgical freedom (19 650.2 ± SD 722.5 mm 2 vs 17 233.8 ± SD 631.7 mm 2 ), and horizontal angle (75.2 ± SD 5.1° vs 61.7 ± SD 4.6°). However, adding some tailored steps to the NR-T permitted comparable access to the JF. CONCLUSION: Neuronavigated TI-A with the short-rerouting technique permits wider access to the JF compared with the NR-T. However, the tailored NR-T provides comparable access to the JF and may be a better option for class C1 and selected class C2 and C3 JFPs.

Changes in repair pathways of radiation-induced DNA double-strand breaks at the midblastula transition in Xenopus embryo.

Ionizing radiation (IR) causes DNA damage, particularly DNA double-strand breaks (DSBs), which have significant implications for genome stability. The major pathways of repairing DSBs are homologous recombination (HR) and nonhomologous end joining (NHEJ). However, the repair mechanism of IR-induced DSBs in embryos is not well understood, despite extensive research in somatic cells. The externally developing aquatic organism, Xenopus tropicalis, serves as a valuable model for studying embryo development. A significant increase in zygotic transcription occurs at the midblastula transition (MBT), resulting in a longer cell cycle and asynchronous cell divisions. This study examines the impact of X-ray irradiation on Xenopus embryos before and after the MBT. The findings reveal a heightened X-ray sensitivity in embryos prior to the MBT, indicating a distinct shift in the DNA repair pathway during embryo development. Importantly, we show a transition in the dominant DSB repair pathway from NHEJ to HR before and after the MBT. These results suggest that the MBT plays a crucial role in altering DSB repair mechanisms, thereby influencing the IR sensitivity of developing embryos.

Extranodal natural killer/T-cell lymphoma coexisting with peripheral T-cell lymphoma, not otherwise specified.

We report the case of a 52-year-old male who presented to our hospital with cervical lymphadenopathy. Lymph node biopsy revealed small atypical lymphoid cells positive for CD3 and CD5 and negative for CD56 and Epstein-Barr virus (EBV)-encoded small RNA (EBER) by in situ hybridization. CD4-positive cells and CD8-positive cells were mixed in almost equal numbers. He was diagnosed with peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS). The patient received one cycle of chemotherapy, resulting in severe sepsis. While undergoing treatment in the intensive care unit with an antimicrobial agent and prednisone, ascitic fluid appeared. Abdominal aspiration revealed neutrophil-predominant ascites and microbiological studies revealed Candida albicans. However, ascites did not improve when treated with micafungin for Candida peritonitis. Abdominal aspiration was re-performed, and atypical lymphoid cells that were positive for CD3 and CD56 were detected. EBV-DNA levels in whole blood were significantly elevated. Atypical lymphoid cells were positive for EBER by in situ hybridization and Southern blot analysis showed EBV terminal repeat monoclonal patterns. Bone marrow examination revealed the same atypical lymphoid cells. Therefore, the patient was diagnosed with extranodal natural killer/T-cell lymphoma (ENKTL) with bone marrow involvement 3 months after the diagnosis of PTCL-NOS. Complications associated with PTCL-NOS and ENKTL are rare. PTCL-NOS, chemotherapy, sepsis, and prednisone might have led to immunodeficiency and reactivation of EBV, which might be one of the pathophysiologies for developing ENKTL. Our case indicates that measuring EBV-DNA in the blood is a simple and prompt examination to detect complications of EBV-associated lymphoma.

Assessing the feasibility of the transmastoid infralabyrinthine approach without decompression of the jugular bulb to the extradural part of the petrous apex and petroclival junction prior to surgery.

BACKGROUND AND OBJECTIVE: This study aims to define specific measurements on cranial high-resolution computed tomography (HRCT) images prior to surgery to prove the feasibility of the navigated transmastoid infralabyrinthine approach (TI-A) without rerouting of the facial nerve (FN) and decompression of the jugular bulb (JB) in accessing the extradural-intrapetrous part of petrous bone lesions located at the petrous apex and petroclival junction. MATERIALS AND METHODS: Vertical and horizontal distances of the infralabyrinthine space were measured on cranial HRCT images prior to dissection. Subsequently, the area of access was measured on dissected human cadaveric specimens. Infralabyrinthine access to the extradural part of the petrous apex and petroclival junction was evaluated on dissected specimens by two independent raters. Finally, the vertical and horizontal distances were correlated with the area of access. RESULTS: Fourteen human cadaveric specimens were dissected bilaterally. In 54% of cases, the two independent raters determined appropriate access to the petrous apex and petroclival junction. A highly significant positive correlation (r = 0.99) was observed between the areas of access and the vertical distances. Vertical distances above 5.2 mm were considered to permit suitable infralabyrinthine access to the extradural area of the petrous apex and petroclival junction. CONCLUSIONS: Prior to surgery, vertical infralabyrinthine distances on HRCT images above 5.2 mm provide suitable infralabyrinthine access to lesions located extradurally at the petrous apex and petroclival junction via the TI-A without rerouting of the FN and without decompression of the JB.

Relationship between residual visual field and full-field stimulus testing in patients with late-stage retinal degenerative diseases.

This study aimed to investigate how the extent and central/peripheral location of the residual visual field (VF) in patients with late-stage inherited retinal diseases (IRDs) are related to retinal sensitivity detected using full-field stimulus testing (FST). We reviewed the results of Goldmann perimetry and FST from the medical records of patients with IRDs whose VF represents central (within 10°) and/or peripheral islands, or undetectable. In total, 19 patients (19 eyes) were analyzed in this study. The median value of residual VF area was 1.38%. The median values of rod and cone sensitivities were - 14.9 dB and 7.4 dB, respectively. Patients with only the peripheral island (- 33.9 dB) had better median rod sensitivity than other groups (only central, - 18.9 dB; both, - 3.6 dB). VF area significantly correlated with rod sensitivity (r = - 0.943, p = 0.005) in patients with only peripheral island, but not with cone sensitivity. Peripheral VF islands were significant contributors to FST results, especially rod sensitivity. With reduced or loss of central vision, the extent of residual peripheral VF significantly affected rod sensitivity, suggesting that FST can be useful in quantitatively estimating the overall remaining vision in patients with late-stage IRD.