Large Case Series Research Articles

Endoscopic transsphenoidal surgery for infradiaphragmatic craniopharyngiomas and impact of diaphragm sellae competence on hypothalamic injury

Investigate the impact of diaphragm sellae competence on surgical outcomes and risk factors for postoperative hypothalamic injury (HI) in patients undergoing endoscopic transsphenoidal surgery (ETS) for infradiaphragmatic craniopharyngiomas (ICs). A retrospective analysis of 54 consecutive patients (2016–2023) with ICs treated by ETS was conducted. All tumors originated from the sellar region inferior to the diaphragm sellae and were classified into two subtypes in terms of diaphragm sellae competence: IC with competent diaphragm sellae (IC-CDS) and IC with incompetent diaphragm sellae (IC-IDS). Clinical features, intraoperative findings, and follow-up data were compared between subtypes. Postoperative HI was assessed using an magnetic resonance imaging-based scoring system. Fifty-four patients (29 males, 25 females) were included in this study, with 12 (22.2%) under 18 years old. Overall, 35 cases were IC-CDS, while 19 were IC-IDS. Compared with IC-CDS, patients with IC-IDS tended to have hormone hypofunction before surgery (p = 0.03). Tumor volume in IC-IDS group (9.0 ± 8.6 cm3) was also higher than that in IC-CDS group (3.3 ± 3.4 cm3, p = 0.011). Thirty-seven patients underwent standard endoscopic transsphenoidal approach (SEA) and 17 underwent an extended endoscopic transsphenoidal approach (EEA). Gross total resection (GTR) was achieved in 50 cases (92.6%). Postoperative CSF leak was observed in four patients (7.4%). Permanent diabetes insipidus (DI) occurred in 13 patients (27.7%), six in IC-CDS and seven in IC-IDS. Postoperative HI occurred in 38.9% of patients. Univariate analysis revealed that large tumor size (p = 0.014), prior hypopituitarism(p = 0.048) and IC-IDS (p < 0.001) were significantly associated with postoperative HI. Multivariate analysis revealed that IC- IDS was the sole predictor of postoperative HI. To our knowledge, this is the largest case series in the literature to describe IC resected by endoscopic surgery in a single institution. Classification based on diaphragm sellae competence highlights distinct clinical features and surgical outcomes between IC-CDS and IC-IDS subtypes. Notably, IC-IDS is an independent risk factor for postoperative HI. Preoperative identification of subtype can guide surgical strategy and potentially minimize complications.

Progressive Multifocal Leukoencephalopathy Associated with Sphingosine-1-Phosphate Receptor Modulators: A Large Case Series

Risk factors for progressive multifocal leukoencephalopathy (PML) associated with sphingosine-1-phosphate receptor (S1PR) modulators are not as well-characterized as for natalizumab. We characterized S1PR modulator-associated PML cases and risk factors for PML using spontaneous adverse event reports. We reviewed case reports from the FDA Adverse Event Reporting System database and the medical literature. We identified 57 PML cases encompassing all marketed S1PR modulators approved for multiple sclerosis, the majority (n = 53) associated with fingolimod. Ten cases reported a fatal outcome. Length of S1PR modulator exposure (≥18 months) appears to be a robust risk factor for PML. Patient age ≥50 years was identified as a potential risk factor, although this may be the result of several biases. We propose that prior immunosuppressant exposure should be considered as a potential risk factor for further validation. No conclusions could be drawn regarding JC virus serology and lymphopenia severity. Spontaneous adverse event reports support the observation that extended S1PR modulator exposure appears to be a robust PML risk factor. As a result, the U.S. Prescribing Information for each product in the S1PR modulator class was updated. Validation of other potential risk factors would support efforts to stratify and mitigate the risk of S1PR modulator-associated PML.

Characterization, management, and outcomes of New Delhi metallo-β-lactamase (NDM)-producing Escherichia coli: A Case Series

BackgroundNew Delhi metallo-β-lactamase (NDM)-producing carbapenem-resistant Enterobacterales (CRE) are a globally growing threat. We sought to describe the microbiology, management, and outcomes of patients with this infection at our facility. MethodsDescriptive case series of patients with NDM-producing Escherichia coli isolated in culture in Detroit between July 2021 and February 2023. Demographics, risk factors, clinical characteristics, management and outcomes were described. ResultsNine patients were included in the study. Most patients were female with a median age of 67 years. Hepatobiliary disease accounted for 90% of underlying conditions. Nearly all patients had prior antibiotic exposure. The most common specimen source was intra-abdominal fluid. Three patients were not treated due to colonization; among those treated, the majority received trimethoprim-sulfamethoxazole. The median treatment duration and length of stay were 7 days and 15.5 days, respectively. Six (67%) patients survived. ConclusionsThis report describes a large case series of NDM-producing E. coli infection. Patients with significant comorbidities remain at high risk for CRE infection. Antibiotic options for the treatment of NDM organisms are very limited; new and effective therapies are urgently needed.

Intracranial angioleiomyoma mimicking meningioma: an uncommon tumor with favorable outcome and frequent GJA4 mutation.

Intracranial angioleiomyoma (IALM) is a rare neoplasm mimicking meningioma. We aimed to explore the clinical and molecular characteristics of IALMs. We included 40 patients with IALMs who had tumor resection at our center from 2009 to 2022. Clinicopathological and radiological characteristics were extracted and analyzed thoroughly. GJA4 mutation status was detected and correlated with clinical characteristics. IALMs accounted for about 10% of all angioleiomyoma and had a significant male predominance compared to extracranial angioleiomyoma (p=0.04). However, there was no age difference between extracranial angioleiomyomas and IALMs. In our IALM cohort, orbital (35%) were the most common tumor location, followed by tentorium (25.0%), cavernous sinuous (17.5%). Vision decrease, diplopia and exophthalmos (40%) were the most common symptom. The radiological characteristics of ILAMs were similar to meningiomas; 20 patients (57.1%) in our cohort were misdiagnosed as meningioma preoperatively. Gross total resection was achieved in all patients. The postoperative pathology showed median Ki-67 index was 1% (range: 0-10%). Vision improvement or exophthalmos relief was achieved in 12 of 16 patients (75.0%). During the long-term follow-up (mean 70.3 months, range 30 - 128 months), no patient experienced tumor recurrence or died of tumor progression, indicating that IALM was clinically benign. GJA4 mutation (p. Gly41Cys) was detected in 17 (42.5%) patients. Of note, the correlations analysis revealed that orbital and cavernous sinus areas (64.7%) were the leading location that harbor GJA4 mutations. Tumors with mutant GJA4 were associated with positive progesterone receptor (PR) expression (p=0.02).This first large case series demonstrated that IALM predominantly affected males, was located in the cavernous sinus and orbital areas, and often manifested visual impairment and diplopia. IALM had favorable outcome. Notably, IALMs frequently exhibited a GJA4 mutation, which was linked to the cavernous sinus and orbital locations, as well as PR expression.

Safety and Efficacy of Dalbavancin in Real Life: Retrospective Analysis of a Large Monocentric Case Series of Patients Treated for Skin/Soft Tissue and Other Difficult-to-Treat Infections.

Background: Dalbavancin is a long-acting lipoglycopeptide, approved for treatment of skin and skin structure infections. Its PK/PD profile and safety allow for short hospital stays even in the case of difficult-to-treat infections requiring long courses of therapy, e.g., osteomyelitis, cardiovascular, and prosthetic infections. Objectives: We aimed to evaluate the safety and efficacy of dalbavancin in real life settings for both in-label and off-label indications. Methods: retrospective evaluation of all consecutive patients treated with dalbavancin at our site between May 2017 and September 2021. Results: A total of 100 patients treated with dalbavancin and followed up for 6 months after treatment (58% male; median age 63.5 years, median Charlson Comorbidity Index CCI = 2.7, 28% inpatients) were included with the following indications: acute bacterial skin and skin structure infections (22%), bone and prosthetic infections (57%), and cardiovascular infections (19%). Infections were caused by MSSA (30%), MRSA (5%), MR-CoNS (20%), and Streptococcus spp. (8%). In 32 cases, no isolate was obtained. The average number of infusions was 5 (s.d. = 3). Neither ensuing alteration of renal function nor neutropenia or thrombocytopenia were observed during treatment and follow-up. Two self-limiting skin rashes occurred. The overall clinical success rate was 84%-91% for registered and 82% for unregistered indications. The prescription of higher loading doses was the only predictor independently associated with better outcomes in multivariate models (OR: 5.2, 95%CI: 1.5-17.9, p < 0.01). Conclusions: Dalbavancin proved to be effective for skin and skin structure infections, as well as for difficult-to-treat infections in highly comorbid patients. Regarding tolerability, our results support the use of dalbavancin for long-lasting treatments of deep-seated infections.

IFSO Bariatric Endoscopy Committee Evidence-Based Review and Position Statement on Endoscopic Sleeve Gastroplasty for Obesity Management.

Obesity is a significant global health issue. Metabolic and bariatric surgery (MBS) is the gold standard in the treatment of obesity due to its proven effectiveness and safety in the short and long term. However, MBS is not suitable for all patients. Some individuals are at high surgical risk or refuse surgical treatment, while others do not meet the criteria for MBS despite having obesity-related comorbidities. This gap has driven the development of endoscopic solutions like endoscopic sleeve gastroplasty (ESG), which offers a less invasive alternative that preserves organ function and reduces risks. A recent IFSO International Delphi consensus study highlighted that multidisciplinary experts agree on the utility of ESG for managing obesity in patients with class I and II obesity and for those with class III obesity who do not wish to pursue or qualify for MBS. This IFSO Bariatric Endoscopy Committee position statement aims to augment these consensus statements by providing a comprehensive systematic review of the evidence and delivering an evidence-based position on the value of ESG within the spectrum of obesity management. A comprehensive systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) and Cochrane guidelines. Systematic Review: The systematic review included 44 articles encompassing 15,714 patients receiving ESG. The studies varied from large case series to cohort studies and a randomized controlled trial (RCT). The mean baseline BMI was 37.56kg/m2. The review focused on weight loss outcomes and safety data. Time point Mean %EWL Mean %TBWL 6months 48.04 15.66 12months 53.09 17.56 18months 57.98 16.25 24months 46.57 15.2 36months 53.18 14.07 60months 45.3 15.9 These results demonstrate significant weight loss following ESG. The pooled serious adverse event (SAE) rate was 1.25%. This low rate of SAEs indicates that ESG is a relatively safe procedure. The quality of evidence from the included observational studies was assessed as very low, primarily due to the inherent limitations associated with observational study designs, such as potential biases and lack of randomization. In contrast, the quality of evidence from the single randomized controlled trial was rated as MODERATE, reflecting a more robust study design that provides a higher level of evidence despite some limitations. The IFSO Bariatric Endoscopy Committee, after conducting a comprehensive systematic review and meta-analysis, endorses endoscopic sleeve gastroplasty (ESG) as an effective and valuable treatment for obesity. ESG is particularly beneficial for patients with class I and II obesity, as well as for those with class III obesity who are not suitable candidates for metabolic bariatric surgery. ESG provides significant weight loss outcomes and demonstrates a favorable safety profile with a low rate of serious adverse events. Despite the limitations of the included observational studies, the randomized controlled trial included in the analysis reinforces the efficacy and safety of ESG and provides an evidence-based foundation for the position statement. Thus, the IFSO position statement supports and provides an evidence base for the role of ESG within the broader spectrum of obesity management.

Metastatic tumours to the parotid: A 20-year single institutional experience with an emphasis on 14 unusual presentations

The parotid gland is a rare site for distant metastasis. We aim to provide an overview of metastatic tumours to the parotid over the past 20 years, focusing on clinicopathological analysis of 14 rare diagnoses. To the best of our knowledge, we are the first group to present the most up-to-date and largest case series on unusual metastases to the parotid. A total of 93 metastatic cases were identified from 2004 to 2023, on the pathology information system at North West London Pathology, with squamous cell carcinoma (n = 45, 48.4 %) as the most common primary, followed by malignant melanoma (n = 29, 31.2 %) and Merkel cell carcinoma (n = 4, 4.3 %). We came across 14 rare tumours that had metastasised to the parotid, including metastatic adenocarcinoma from kidney (n = 3, 3.2 %), lung (n = 3, 3.2 %) and breast (n = 1, 1.1 %), olfactory neuroblastoma (n = 3, 3.2 %), soft tissue sarcoma (n = 2, 2.2 %), small cell carcinoma (n = 1, 1,1 %) and hidradenocarcinoma (n = 1, 1.1 %). Half of all secondary neoplastic lesions (50.5 %) were found in intra-parotid nodes, while the other half (49.5 %) were found in parotid parenchyma. Our study offers valuable insights into the various tumour types that can metastasise to the parotid across a wide age range. It underscores the necessity of maintaining a broad differential diagnosis. Keeping an open mind regarding the potential primary sources of the tumour is imperative for accurate diagnosis and effective treatment planning.

Human Papillomaviruses 16 and 18 E6 Oncoprotein Detection Test in Primary Oropharyngeal Carcinomas and Metastatic Lymph Nodes: A Cross-Sectional Study.

Accuracy in the diagnosis of HPV-associated oropharyngeal carcinoma (OPSCC) of a rapid, low-cost lateral flow immunochromatographic assay for detecting E6 oncoprotein of HPV-16 and HPV-18 was previously evaluated in a small pilot study. This cross-sectional study aimed to assess on a large case series the sensitivity and specificity of E6 oncoprotein as a diagnostic marker for HPV-associated carcinogenesis in OPSCC. 137 consecutive patients with histologically confirmed OPSCC were enrolled in two hospitals in Northeast Italy. HPV status was determined by PCR for HPV DNA and p16INK4a immunohistochemistry on primary tumor biopsies. An OPSCC was defined as HPV-associated when double positive for high-risk HPV-DNA and p16INK4a overexpression in primary lesion. Cytological samples from primary tumors and metastatic lymph nodes were obtained and tested for HPV16/18 E6 oncoproteins using the lateral flow immunochromatographic assay, which requires between 90 and 120 min to provide a result. Diagnostic performances were calculated as percentage with confidence intervals (CI). Of the 137 OPSCC cases, 68 (49.6%) were HPV-associated, testing positive for both high-risk HPV-DNA and p16INK4a, with HPV16 predominating (82.4%). An average waiting time of 22 days was observed to obtain the results of p16INK4a and HPV-DNA after primary lesions biopsy. In patients with HPV16/18-associated OPSCC, the HPV16/18 E6 oncoprotein was detected in 59 out of 60 cytological samples from the primary lesion (sensitivity: 98.3%; 95% CI: 91.1-100%) and in 45 out of 51 cytological samples from lymph node metastases (sensitivity: 88.2%; 95% CI: 76.1-95.6%). The E6 oncoprotein assay showed a specificity of 100% in both primary tumors and lymph node metastases. The low-cost lateral flow immunochromatographic assay for detecting HPV16/18 E6 oncoproteins confirmed high accuracy for identifying HPV-associated OPSCC, particularly in primary tumors, suggesting its potential as a valuable diagnostic tool in clinical practice. Its rapid diagnostic capability could significantly accelerate the process of treatment decision-making, enhancing the timely management of patients.

Simultaneous Coronoid Bone Grafting in Ballistic Facial Trauma Patients Undergoing Coronoidectomy.

Ballistic facial trauma can cause complex fractures and overlying soft tissue damage, with a zone of injury that extends beyond the bullet tract. Early skeletal fixation is indicated, and previous large case series describe the use of debrided bone fragments as 'spare part' grafts. This series presents the indications and techniques for simultaneous coronoid bone grafting in 2 patients who sustained a gunshot wound to the right midface and required coronoidectomy. The coronoid process was used as (1) an interposition graft in the lateral buttress of the right maxilla for stability, and (2) an onlay graft on the right inferior orbital rim for contour. Both patients did not have graft infection, extrusion, or malposition at the 1-month clinic follow-up. The coronoid process of the mandible is a viable, safe spare-part option, despite the possible location of the coronoid process within the zone of injury in the reconstruction of complex ballistic facial trauma.

Developmental uterovaginal anomalies and histologic findings in transgender patients receiving gender-affirming hysterectomies: A large case series.

To describe the incidence of uterovaginal anomalies and histologic findings in transgender and nonbinary (TGNB) patients seeking hysterectomies. All patients receiving gender-affirming hysterectomies between 2013 and 2023 were retrospectively reviewed. Primary outcomes included uterovaginal anomalies and histological findings. Multivariable logistic regressions were performed to evaluate relationships between variables of interest and whether they predict findings of uterovaginal anomalies, inactive endometrium, adenomyosis, leiomyoma, endometriosis, and cervical atrophy. 278 patients received hysterectomies at an average age of 29.2 ± 8.3 years. Seven patients (2.5%) were found to have a developmental anomaly, including two bicornuate uterus (0.7%), two unicornuate uterus (0.7%), one septate uterus (0.4%), and two vaginal septum (0.7%). 60 patients (21.6%) were found to have inactive endometrium and 26 patients (9.4%) had cervical atrophy. Although 262 patients (94.2%) were on testosterone therapy, hormone duration was not a significant predictor of any uterine findings. This study describes uterovaginal anomalies in a large cohort of patients receiving gender-affirming hysterectomies. Although long-term testosterone use is commonly believed to be associated with endometrial and cervical atrophy, this study shows no such association.

Comparison between typical primary and eunatraemic, eukalaemic hypoadrenocorticism: 92 cases

BackgroundNaturally occurring hypoadrenocorticism is an uncommon endocrine disorder in dogs but has significant morbidity and mortality. Some dogs present with apparent glucocorticoid deficiency alone as evidenced by eunatraemia and eukalaemia. Few studies have compared dogs with hypoadrenocorticism with or without electrolyte disturbances and there are no large case series of affected dogs from Ireland.MethodsRetrospective observational study.ResultsNinety-two cases diagnosed with hypoadrenocorticism subdivided into those with supportive electrolyte disturbances (Group 1; n = 72) and those without (Group 2; n = 20). Dogs in Group 1 were significantly (p = 0.001) younger (4.0 (3.0–6.0) years) than dogs in Group 2 (6.0 (4.75–8.25) years). Dogs in Group 1 presented significantly more commonly with vomiting (Group 1: 52/71 (73.2%), Group 2: 6/20 (30.0%); p < 0.001), total hyperproteinaemia (Group 1: 21/71 (29.6%), Group 2: 1/20 (5.0%); p = 0.023), increased urea (Group 1: 52/72 (72.2%), Group 2: 5/20 (25.0%); p < 0.001), increased creatinine (Group 1: 31/72 (43.1%), Group 2: 3/20 (15.0%); p = 0.021) and hyperphosphataemia (Group 1: 40/71 (56.3%), Group 2: 2/20 (10.0%); p < 0.001), and significantly less commonly with reticulocytosis (Group 1: 4/38 (10.5%), Group 2: 5/13 (38.5%), p = 0.023). An undetectable basal aldosterone concentration had a positive predictive value of 94.3% for diagnosing undetectable post-ACTH aldosterone concentration. Of the thirteen dogs in Group 2 that had aldosterone concentrations measured and secondary disease excluded, 7 (53.8%) had or subsequently developed evidence of aldosterone deficiency, although not always with electrolyte abnormalities.ConclusionsDogs with hypoadrenocorticism from Ireland are similar to other reported cases. An undetectable basal aldosterone concentration is highly predictive of mineralocorticoid deficiency. Dogs with apparent glucocorticoid deficiency alone can progress to more typical disease and should be monitored appropriately.

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

De novo variants in cullin-3 ubiquitin ligase (CUL3) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here, we aimed to collect sporadic cases carrying rare variants in CUL3, describe the genotype-phenotype correlation, and investigate the underlying pathogenic mechanism. Genetic data and detailed clinical records were collected via multicenter collaboration. Dysmorphic facial features were analyzed using GestaltMatcher. Variant effects on CUL3 protein stability were assessed using patient-derived T-cells. We assembled a cohort of 37 individuals with heterozygous CUL3 variants presenting a syndromic NDD characterized by intellectual disability with or without autistic features. Of these, 35 have loss-of-function (LoF) and 2 have missense variants. CUL3 LoF variants in patients may affect protein stability leading to perturbations in protein homeostasis, as evidenced by decreased ubiquitin-protein conjugates in vitro. Notably, we show that 4E-BP1 (EIF4EBP1), a prominent substrate of CUL3, fails to be targeted for proteasomal degradation in patient-derived cells. Our study further refines the clinical and mutational spectrum of CUL3-associated NDDs, expands the spectrum of cullin RING E3 ligase-associated neuropsychiatric disorders, and suggests haploinsufficiency via LoF variants is the predominant pathogenic mechanism. ANN NEUROL 2024.

Safety and feasibility of "three arms settings" robot-assisted radical prostatectomy using the Hugo RAS system: surgical set-up in a double-center large case series.

Robot-assisted laparoscopic radical prostatectomy (RARP) is the most common robotic procedures performed in urologic oncology. The Hugo Robot-Assisted Surgery (RAS) System (Medtronic, USA©) has recently been launched on the market and is characterized by the modularity of four different independent arm carts. The aim of this study is to describe and evaluate safety and feasibility of three-arms setting for RARP using the Hugo RAS™ System in a large case series. Between October 2022 and December 2023, a large case series of patients from two tertiary referral center who underwent RARP through HUGO™ RAS were prospectively enrolled. Informed written consent was obtained before the procedure and a three-arms setting was used in every case. Follow-up was scheduled according to EAU guidelines. A total of 86 patients were included in this study and underwent RARP with Hugo™ RAS System. Median Console time time was 114min (IQR, 75-150), median docking time 4min (IQR, 3-5). Lymphadenectomy was successfully performed when indicated in 19 patients (22.1%). A vesicourethral anastomosis using the modified Van Velthoven technique was successfully achieved in all cases. No post-operative complications > Clavien II up to 30 post-operative days were reported. In all patients, catheter was removed on the 7th postoperative day. We conducted the first large case series of RARP through the novel Hugo™ RAS System using a three-arms configuration. This innovative robotic platform showed an easily accessible docking system, providing excellent perioperative outcomes.

Posterior reversible encephalopathy syndrome (PRES) on the second postpartum day: learning experience from a case report and literature review

BackgroundPosterior reversible encephalopathy syndrome (PRES) is an uncommon neurological disorder which is characterised by variable symptoms. The transient clinical condition may be underestimated and misdiagnosed as other conditions, especially, among pregnant women with severe preeclampsia, eclampsia, and HELLP (hemolysis, elevated liver enzymes, and low platelets) syndrome in the puerperium. We hereby contribute to the literature this rare complication and hightlight the appropriate management of PRES .Presentation caseA pregnant woman (gravida 3, parity 2) had a normal antenatal course. However, she was diagnosed with severe preeclampsia and HELLP syndrome at 29 weeks and 5 days of gestation. Therefore, she was indicated for a medical termination of pregnancy following a patient’s consent at our tertiary referral hospital. Severely, the patient developed rapidly with altered mental health in early puerperium. In result, PRES was diagnosed based on a brain magnetic resonance imaging (MRI) evidence with typical findings. After a strict multidisciplinary management, the clinical condition improved after 5 days of onset and recovered completely after a 4-month follow-up without any sequelae.ConclusionIn summary, despite its rarity, clinicians ought to be knowledgeable and raise an aware of PRES during pregnancy. Importantly, a brain imaging modalities should be taken into account among pregnant women with neurological symptoms subsequent to severe preeclampsia. In addition to early diagnosis, a timely appropriate treatment with multidisciplinary team is strongly indicated. Further studies with a large case series are required for this uncommon entity.

Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series.

LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON-related myopathy (SELENON-RM) are two rare neuromuscular diseases characterized by proximal and axial muscle weakness, scoliosis, spinal rigidity, low bone quality and respiratory impairment. Cardiac involvement has previously been described in retrospective studies and case reports, but large case series and prospective studies in unselected cohorts are lacking. The objective of this study is to conduct prevalence estimations, perform cardiac phenotyping, and provide recommendations for clinical care. In this case series including two time points, we conducted comprehensive assessments with electrocardiography (ECG) and transthoracic echocardiography (TTE). ECGs were systematically assessed for a large subset of variables. TTE included left and right ventricular ejection fraction (LVEF/RVEF) and left ventricular global longitudinal strain (GLS), the latter being a more early and sensitive marker of left ventricular dysfunction. 21 LAMA2-MD (M = 5; 20±14 years) and 10 SELENON-RM patients (M = 7; 18±12 years) were included. In most patients, QRS fragmentation and Q waves, markers of heterogeneous ventricular activation, were present both at baseline and at follow-up. GLS was abnormal (age specific in children, > -18% in adults) in 33% of LAMA2-MD and 43% of SELENON-RM patients at baseline. Reduced LVEF (<52% in males, <54% in females and <55% in pediatric population) was observed in three LAMA2-MD patients at baseline and in none of the SELENON-RM patients. GLS and LVEF did not change between baseline and follow-up. RVEF was normal in all patients. ECG abnormalities and abnormal GLS are prevalent in LAMA2-MD and SELENON-RM, yet abnormal LVEF was only seen in LAMA2-MD patients. One LAMA2-MD patient had a clinically relevant deterioration in LVEF during 1.5-year follow-up. We advise routine screening of all patients with LAMA2-MD or SELENON-RM with ECG and echocardiography at diagnosis, minimally every two years from second decade of life and if new cardiac signs arise.

Treatment of rotational tibial malunion after minimal invasive plate osteosynthesis (MIPO): Corrective osteotomy with original plate retention (PR-Osteotomy)

Background and purposeResidual axial and rotational deformities in tibial shaft fracture, after minimally invasive osteosynthesis (MIO) treatment, are widely described in literature. Nevertheless, there is still a lack of evidence about the malunion treatment strategies and results. The aim of our study is to present an innovative technique for tibial shaft malunion: a derotational proximal tibial osteotomy without removing the original plate (Plate-Retaining-Osteotomy: PR-Osteotomy). Materials and methodsWe present the results of two consecutive patients’ treatment, affected by tibial shaft fracture malunion, as sequelae of MIO treatment. The two patients, male 60 years old and female 39 years old, underwent previous surgical treatment with an average of 9 months span time before surgical revision. The affected limb showed significant external torsional defect associated with gait impairment, pain and limping. The amount of rotational deformity and the bone healing condition is assessed through a methodical preoperative planning, including weight bearing lower limbs Xray and bilateral computed tomography (CT) scan of the lower limbs. The surgical technique involves a monoplanar tibial osteotomy, in a perpendicular fashion to the tibial axis, at a level that would allow at least 3 proximal screw-holes to become available for subsequent fixation. Proximal to the osteotomy line the screws are removed, while the distal ones, if stable after testing, are left in place. The amount of torsional correction, planned on CT, is reproduced intraoperatively with the assistance of graduated templates. A fibular osteotomy may be performed if required. After temporary stabilization, the correct functional reduction is checked with the aid of fluoroscopy and empirical rod measurement, using the contralateral limb alignment as a reference. Once the desired correction is achieved, absolute stability is applied to the osteotomy site. Postoperative rehabilitation protocol involves partial weight bearing for 6–8 weeks with progression to full weight bearing by 10–12 weeks. ResultsBoth patients showed complete osteotomy healing at the 13th and 16th week respectively, with no complications and full recovery of normal gait and daily life activities. ConclusionsTo our knowledge, this is the first description of such surgical technique. Less invasiveness, fast recovery time and cost reductions are the foremost proposed benefits. Further larger case series with longer follow up are needed to assess the advantages of the proposed treatment strategy.

The Optimal Approach to Surgical Management of Goblet Cell Carcinoid of the Appendix: A Systematic Review.

Goblet cell carcinoid (GCC) is a rare and poorly understood appendiceal neoplasm, exhibiting mixed histological and aggressive clinical features. Current guidelines recommend right hemicolectomy in all cases, although there is conflicting evidence that appendicectomy alone may be sufficient. This review aims to identify the optimal surgical management for appendiceal GCC. A systematic review was performed by searching MEDLINE, Embase, Scopus and the Cochrane Register of Controlled Trials. Randomised controlled trials, cohort studies or large case series (>5 patients) reporting clinical outcomes for patients undergoing surgical management of GCC of the appendix were included. Outcomes extracted included participant and tumour characteristics, type of surgery and survival data. A total of 1341 studies were retrieved. After duplicate removal, 796 titles were screened for relevance prior to abstract and full text review. A total of six studies were included for analysis, comprising 3177 patients-1629 females and 1548 males. The median age ranged from 51 to 72 years. A total of 2329 patients underwent right hemicolectomy, while 824 were treated with appendicectomy only. Overall, the included studies report increased survival in patients undergoing right hemicolectomy compared to appendicectomy alone. A meta-analysis was not possible due to insufficient data reported in the published literature to date. There is no consensus regarding the optimal surgical management of appendiceal GCC, as outcomes-based data comparing surgical interventions are lacking. It is possible that some patients with favourable features are overtreated. The absence of robust evidence to support a more conservative approach means that right hemicolectomy remains the standard of care for all patients, in keeping with current international guidelines. The rarity of this condition and limited data in the published studies remain barriers to evidence-based best clinical practice.

Short-Term Outcomes of Tonsillectomy in Large Paediatric Case Series.

Tonsillectomy is a commonly performed procedure in pediatric ENT departments worldwide. To comprehensively evaluate the morbidity associated with tonsillectomy techniques and potential factors that impact outcomes The present study examined the entirety of pediatric patients who underwent tonsillectomy or adenotonsillectomy at CUCH during the years 2021 and 2022. Comprehensive scrutiny was conducted on admissions and readmission data, which encompassed hospital episode statistics, operative notes, patient questionnaires, and electronic records. A total of 690 procedures were identified in our records, with 399 males and 291 females ranging in age from 1 to 13 years. The main indications for surgery included sleep-disordered breathing and recurrent tonsillitis. Among the patients, 233 underwent the surgery as a day case. Coblation intracapsular technique was used in 52% of cases, dissection method in 37%, and coblation extracapsular method in 10%. The incidence of post tonsillectomy bleeding (&infection) was 8.19%( 1.75%),14.89%(2.08%), 1.65%(1.65%) for dissection, coblation extracapsular and coblation intracapsular techniques respectively. Coblation intracapsular tonsillectomy has shown the lowest rate of postoperative hemorrhage compared to other techniques. Senior surgeons (consultants) had the lowest rate of post-tonsillectomy hemorrhage; however, this difference did not reach statistical significance.

Infantile Hemangioma with Minimal or Arrested Growth (IHMAG): A Retrospective Analysis of Clinical and Dermoscopic Diagnostic Clues.

Infantile hemangioma with minimal or arrested growth (IHMAG) is an unusual subset of infantile hemangioma, difficult to recognize because they are often mistaken for capillary malformation or other entities. Dermoscopic features of IHMAG have been described only in small case series so far. The aim of our study was to evaluate epidemiological, clinical, and dermoscopic features in 79 cases of IHMAG with a specific focus on neonates and toddlers with segmental complicated IHMAG and to provide a remarkable dermoscopic criterion to achieve diagnosis. This case series collected all the cases of IHMAG recorded in our Clinical Registry from January 2012 to March 2022. A total of 79 cases of IHMAG were identified in our study; 53 (67.1%) were localized and 26 (32.9 %) were segmental. Patients showed some complications during follow-up such as ulceration and soft tissue anomalies. One PHACE syndrome and two LUMBAR syndromes were included. Our study highlights the main dermoscopic features differentiating IHMAG from infantile hemangiomas and capillary malformations in neonatal patients, highlighting the presence of enlarged unfocused telangiectatic vessels as remarkable clues. This is a large case series described in the literature about this rare entity. We emphasize that segmental IHMAG may be associated with structural abnormalities and may pose a diagnostic challenge especially in its rare facial segmental localization. The use of dermoscopy allowed us to find typical signs for IHMAG, thus avoiding the execution of invasive methods and ensuring the prompt suspicion of a syndrome in segmental neonatal cases.

Eagle syndrome presentation and outcomes in a large surgical case series.

The purpose of this study is to describe both the common and uncommon symptoms associated with Eagle syndrome and share our experience treating a large group of patients with surgical intervention, primarily intraoral excision of the calcified stylohyoid ligament. This retrospective case series included 56 patients at least 18 years of age or older with a diagnosis of Eagle syndrome. All operations were conducted by a single surgeon at a tertiary medical center from 2015 to 2022. Charts were reviewed for demographics, prior medical/surgical history, symptoms, imaging results, operative details, and follow-up history. A phone survey inquired about presenting symptoms and symptom resolution following surgery. The most common areas of pain were the ear (64.3%), underneath the angle of the mandible (50%), throat (46.4%), and neck (30.4%). Over 70% of patients reported tinnitus, dysphagia, and pain that were exacerbated by head rotation. Fifty-one of the 56 patients underwent surgical treatment, 92.2% via intraoral and 7.8% via cervical approaches. All patients (100%) reached in a phone survey stated that their symptoms resolved or improved after surgery. Eagle syndrome typically presents with common symptoms. However, healthcare providers must also be vigilant for less common manifestations, such as seizures or episodes of dizziness/fainting. These may be caused by calcification of the stylohyoid ligament. Intraoral surgical resection of the calcified ligament is a safe and effective treatment for most patients. Level 4.