Search Results (1,519)

Background: Community-acquired pneumonia (CAP) in children may be complicated by necrotizing pneumonia (NP), complicated parapneumonic effusion (CPPE), and lung abscess. These complications prolong hospitalization and require medical and surgical intervention. Objectives. To describe clinical course, diagnostic workup, and management of cCAP (complicated CAP) in children admitted to the Women’s and Children’s Health Department, Padua University Hospital, between January 2022 and September 2024. To identify factors associated with disease severity and evaluate outcomes. Methods: All children hospitalized for cCAP during the study period were included. Data collected comprised clinical features, laboratory and imaging findings, medical and surgical management, and outcomes. Results: Forty patients (mean age 4.4 y; 13.15% of pneumonia admission) were included: 67.5% had NP with CPPE, 22.5% isolated effusion, 10% NP without effusion. All patients were febrile at onset, 62.2% had cough, 32.5% abdominal pain, 30% rhinitis. NP was confirmed by contrast-enhanced chest CT. Thirty patients (75%) had positive microbiological testing, mainly Streptococcus pneumoniae and Streptococcus pyogenes. 77.5% required oxygen therapy (five invasive ventilation and one with ECMO). Median fever duration 18 days (IQR 15–27) with elevated CRP (median peak 300 mg/L). Pleural drainage was performed in 66.7%, fibrinolytics in 17.5%, thoracoscopic decortication in 12.5%, and lobectomy in one patient. Radiological resolution occurred at a median of 31 days post-discharge, with normal pulmonary function at a median of 15 months. Conclusions: Despite pediatric cCAP severity, short- and long-term outcomes are favorable. Early recognition and integrated management are crucial, and further prospective studies are warranted to optimize care and identify severity predictors. Full article

In addition to standardized lateral cephalometric radiographs, comprehensive assessment using dental cone-beam computed tomography (CBCT) and CT has become commonplace in the diagnosis and treatment of jaw deformities. Simulation based on cephalometric and CT data is particularly useful in the management of jaw deformities, both for evaluation and prognostic prediction. As such imaging examinations cover a wide anatomical region, it is not uncommon for various incidental pathologies to be discovered. This review emphasizes the necessity of evaluating the entire imaged area in addition to the chief complaint. Furthermore, it outlines the essential anatomical structures that should be assessed during diagnostic imaging performed prior to representative surgical procedures for jaw deformities (e.g., sagittal split ramus osteotomy and Le Fort I osteotomy). This review paper is descriptive in nature, incorporating our facility’s empirical aspects, and presents representative cases in a narrative format; it is not a systematic review. In other word, as the evidence-based literature does not cover all aspects of pretreatment evaluation, these criteria are based on the past experience of the authors. Full article

Background and Objectives: Appendectomy is the most frequent non-obstetric emergency operation in pregnancy, yet its relationship with preterm birth (PTB) remains uncertain. We systematically reviewed studies assessing PTB after appendectomy during pregnancy, focusing on surgical approach and histopathology. Methods: Following a PRISMA-guided protocol, we searched PubMed, Scopus, and Web of Science to 1 October 2025 for studies reporting gestational-age outcomes after appendectomy in pregnancy. Eligible designs were cohort or case–control studies and case series ≥ 5 pregnancies. Data on technique, timing, pathology, and PTB were extracted and synthesized narratively; meta-analysis was not performed because of heterogeneity. Results: Six studies including over one thousand pregnancies with appendectomy and over one million comparators were identified. In the largest registry study, appendectomy was associated with increased PTB risk (adjusted hazard ratio [aHR] 1.73, 95% CI 1.42–2.09), with a stronger association for planned than spontaneous PTB. A matched cohort reported PTB in 11.9% of operated women versus 5.4% of controls and a higher PTB rate after negative appendectomy (20.5% vs. 9.2% with inflamed appendices). In a single-center series, PTB occurred in 24.4% after open but 0% after laparoscopic appendectomy. Across studies, crude PTB rates after appendectomy ranged from 4.5% to 24.4%. Three of five studies reporting effect estimates found significantly elevated PTB risk, whereas two smaller cohorts showed null or imprecise associations. Conclusions: Current evidence suggests that appendectomy in pregnancy is associated with increased PTB risk, particularly after negative or late-gestation open procedures, supporting careful diagnostic work-up, preference for laparoscopy when feasible, and close obstetric follow-up. Full article

Introduction: The health care burden of chronic hepatitis B virus (CHB) infection can be reduced by appropriate workup, treatment, and monitoring. Methods: As a primary objective, we determined whether adequate initial hepatitis B virus (HBV) laboratory workup in CHB patients is associated with improved CHB complications risk. Secondary outcomes assessed included: mortality, hospitalization, emergency department, and liver specialist visits. We conducted a retrospective cohort study from 1 January 2012 to 31 December 2018. Participants were followed from 12 months post index event until outcome occurrence, death, loss of eligibility, or 31 March 2023. Health administrative data from Ontario, Canada was utilized. The study cohort included individuals with at least one positive result of either hepatitis B surface antigen, hepatitis B e antigen, or HBV DNA viral load documented during the study window. The exposure of interest was defined as adequate laboratory workup, defined as having subsequent quantitative HBV DNA, and alanine aminotransferase testing completed within 12 months of the index event. CHB-related complications were assessed using previously validated diagnostic codes. Modified Poisson regression modelling was used to estimate relative risks. Results: The study cohort consisted of 30,794 CHB patients, with a mean age 45.7 years. The majority were male (53.5%) and within the lowest two income quintiles (50.2%). In total, 68.0% underwent adequate workup. Individuals with adequate workup were more likely to be older, male, urban based, and of the highest racialized and newcomer populations quintile. The risk for CHB complications was 1.50 (95% CI 1.36–1.65) times greater among those with adequate workup. By multivariable analysis, adequate workup was associated with a lower risk of mortality (RR 0.78; 95% CI 0.69–0.87), all-cause hospitalizations (RR 0.77; 95% CI 0.74–0.80), all-cause (RR 0.77; 95% CI 0.75–0.78), and liver-related (RR 0.67; 95% CI 0.60–0.75) ED visits. Conclusions: Adequate CHB clinical workup is associated with improved patient outcomes. Our findings advocate for the comprehensive evaluation of CHB patients using key laboratory tests to optimize clinical management and improve long-term health outcomes. We identified gaps in the workup of young adults, females, and those residing in rural settings, which should be addressed to ensure equity of HBV care. Full article

Background: Fetal growth restriction (FGR) is a significant obstetric complication associated with increased perinatal morbidity and long-term developmental risks. Despite advances in prenatal diagnosis, the genetic etiology of isolated FGR remains incompletely characterized, complicating genetic counseling and clinical management. Objective: This study aimed to systematically evaluate the genetic causes of isolated FGR by integrating karyotyping, chromosomal microarray analysis (CMA), and trio-based whole exome sequencing (trio-WES) and to assess the incremental diagnostic yield of this sequential approach. Methods: A retrospective cohort of 153 fetuses with isolated FGR (diagnosed by ultrasound between February 2018 and July 2024) underwent karyotyping and CMA. Cases with normal results from both tests (n = 50) were subsequently analyzed by trio-WES. Results: Karyotyping identified chromosomal abnormalities in three cases (2.0%). CMA detected pathogenic/likely pathogenic copy number variations (CNVs) or uniparental disomy (UPD) in twelve cases (7.8%), including the three karyotypic abnormalities and nine additional cases (5.9% incremental yield). Trio-WES performed on 50 CMA-negative cases identified pathogenic or likely pathogenic variants in 12 cases (24%). Among these, seven cases (14% of the WES subgroup) harbored variants directly causative of FGR, including one case of UPD(6) missed by CMA alone. Additionally, trio-WES revealed seven incidental pathogenic/likely pathogenic variants not directly linked to FGR and identified one case in which FGR was attributed to maternal hyperphenylalaninemia. Conclusions: The sequential application of CMA and trio-WES significantly improves the diagnostic yield for isolated FGR. Trio-WES proved particularly valuable in detecting UPD and single-gene variants missed by CMA alone and in revealing contributory maternal genetic conditions. These findings support the integration of advanced genetic testing into the diagnostic workup for isolated FGR to enhance etiological diagnosis, facilitate comprehensive genetic counseling, and inform multidisciplinary management. Full article

Background: We report an uncommon presentation of Lyme disease and highlight the importance of a detailed history in a patient with new-onset sixth nerve palsy. Methods: Case report and literature review. Results: A 46-year-old man receiving infliximab presented to the ophthalmology emergency department with horizontal binocular diplopia. History revealed a diffuse headache that had begun three weeks earlier. Ophthalmologic examination demonstrated a left sixth cranial nerve palsy. The workup showed positive Borrelia serum IgG, which was interpreted as a likely false-positive result given the limited specificity of serologic testing. At follow-up, the patient reported left-sided peripheral facial palsy, and worsening headache and diplopia. Further history revealed prior erythema migrans treated with doxycycline four months earlier. Considering these new findings, a lumbar puncture was performed and demonstrated intrathecal production of Borrelia antibodies. Neuroborreliosis, a neurologic involvement secondary to systemic infection by the spirochete Borrelia burgdorferi, was diagnosed. The patient was treated with oral doxycycline for 28 days with complete resolution of symptoms. Conclusions: Lyme disease may present with progressive neuro-ophthalmologic symptoms, underscoring the crucial role of ophthalmologists in its diagnosis. Moreover, immunosuppression may delay diagnosis and allow neurological progression, highlighting the need for careful history taking and close follow-up. Full article

Lipodystrophy is a rare group of metabolic disorders characterized by the abnormal distribution of body fat, which can lead to various metabolic complications due to the body’s inability to adequately process carbohydrates and fat. We report the case of a female, aged 53 years, who was admitted as an outpatient for progressive weight loss of the upper part of the body (face, neck, arms, and chest), dyspeptic complaints, fatigue, mild insomnia, and anxious behavior. Her medical history was characterized by the presence of dyslipidemia, hypertension, and a minor stroke episode. However, she denied any family-relevant medical history. Although the clinical perspective suggested a possible late onset of partial acquired lipodystrophy, due to the imaging exam that revealed an enlarged liver with inhomogeneous structure with multiple nodular lesions, scattered over both lobes, a lot of lab work-ups and complementary studies were performed. Eventually, a liver biopsy was performed by a laparoscopic approach during cholecystectomy, the histology consistent with metabolic disease-associated steatohepatitis (MASH). In conclusion, given their heterogeneity and rarity, lipodystrophies may be either overlooked or misdiagnosed for other entities. Barraquer–Simons syndrome (BSS) may be associated with liver disease, including cirrhosis and liver failure. Liver lipodystrophy in BSS may sometimes feature steatosis with a focal, multi-nodular aspect, multiplying the diagnostic burden. Liver lipodystrophy may manifest as asymptomatic fat accumulation but may progress to severe conditions, representing one of the major causes of mortality in BSS, apart from the cardio-vascular comorbidities. Given the potential of severe outcomes, it is mandatory to correctly assess the stage of liver disease since the first diagnosis. Full article

Background: There is an increasing number of synchronous tumor diagnoses, mainly due to new investigative techniques and diagnostic guidelines. While renal and colonic malignancies are common, synchronous cases remain rare. They are usually diagnosed during the staging work-up performed for the primary cancer. Case Presentation: We share our experience with two cases of synchronous colon adenocarcinoma and renal cell carcinoma. The surgical intervention was performed simultaneously and laparoscopically, with good results and prognosis. Reviewing the literature, we found few studies reporting these synchronous tumors, which reflects their low incidence. Renal tumors are often identified during imaging studies performed for staging colonic tumors, and performing surgical treatment during the same operation is widely accepted. We performed a search of the literature to identify similar cases and to look for associations that can lead to synchronous colonic and renal malignancies. We also wanted to highlight the potential for therapeutic management as a single step, thereby avoiding a second surgical procedure. Conclusions: Synchronous renal and colonic malignancies are rare and are generally sporadic. Due to their rarity, there are no established guidelines, and management can be challenging. Presently, the treatment needs to be individualized based on discussions from the tumor board. Full article

Astroviruses are non-enveloped, positive-sense single-stranded RNA viruses known to infect various mammals and birds, including humans, often causing gastrointestinal disorders. In recent years, astroviruses have also been linked to neurological and respiratory diseases across several species, including ruminants, mink, deer, and other mammals. Notably, astrovirus infections in goats have been documented in countries such as Switzerland and China, where novel genotypes have been identified in fecal samples. However, their role in the context of disease remains unclear, and reports focusing solely on goat astrovirus in the United States have not been published. A necropsy case of a Boer goat kid with a history of diarrhea was submitted for investigation following death in January 2025. Fresh tissues were received and used for histopathology and enteric pathogen testing, including parasitic, bacterial, and viral workups. Metagenomic-based next-generation sequencing (mNGS) was also applied for this case. Histological examination revealed severe necrotizing enterocolitis. The small intestine exhibited epithelial ulcerations, villus atrophy, hyperplastic and dilated crypts with necrotic debris, few intraenterocytic coccidian parasites, and increased inflammatory cells in the lamina propria. The large intestine showed similar findings with pleomorphic crypt enterocytes. Standard enteric pathogen tests were negative except for aerobic culture that identified Escherichia.coli and Enterococcus hirae. mNGS and bioinformatic analysis identified a novel astrovirus in the intestinal content that showed the highest nucleotide identity (86%) to the sheep strain Mamastrovirus 13 sheep/HA3 from China based on BLAST analysis. Phylogenetic analysis indicated that the newly identified caprine astrovirus IL90175 clustered with astrovirus strains from small ruminants in Asia and Europe. This research reports the discovery, histopathologic features, and genetic characteristics of a gastrointestinal disease-causing astrovirus in a goat kid, which had not been previously described in the United States. Full article

Background: Lung carcinoids—typical and atypical—are rare neuroendocrine tumors (NETs) representing 1–2% of lung cancers. Despite clinicopathological differences, their clinical management often mirrors lung cancer protocols rather than NET-specific recommendations. Objectives: Portray a 12-year real-world experience with lung carcinoids at a Comprehensive Cancer Center, identifying gaps in diagnostic work-up, treatment decision-making, and follow-up. Methods: Retrospective observational cohort study of adult patients with histologically confirmed lung carcinoids diagnosed at IPO Porto between January 2013 and December 2024. Demographic, clinical, imaging, and treatment data were collected from electronic patient records. Analyses were descriptive. Results: Among 179 identified cases, 129 met eligibility criteria. Median age was 62 years (range 18–84); 53.6% were women and 53.5% were non-smokers; 84.5% had ECOG-PS 0–1. The most frequent presentation was respiratory symptoms (34.1%), followed by incidental findings (43.4%, of which ~20% were during staging or surveillance of other cancers). Typical carcinoids accounted for 49.6% and atypical for 43.4%. FDG-PET/CT was requested in 70.9% of cases, including many with typical carcinoid, and SSTR-PET/CT in 64.6% (dual PET in 38.8%). Most patients (65.1%) presented with stage I disease; 17.1% were stage IV. Mean time-to-first treatment was 83 days (range 1–259). Surgery was the first treatment option for 78.3% of patients. Conclusions: This real-world series highlights heterogeneity in diagnostic pathways, excessive FDG-PET use in typical carcinoids, and non-standardized follow-up. Dedicated multidisciplinary lung-NET boards and national reference centers are needed to homogenize and streamline patient management. Full article

The acute phase of pulmonary embolism (PE) may be a severe and potentially life-threatening condition. Moreover, long-term consequences following the acute phase can significantly impact a patient’s daily life. A systematic approach to PE follow-up can identify potential complications following acute PE. Post-PE syndrome (PPES) is a common occurrence among survivors experiencing persistent dyspnea and impaired functional status. While the exact definition is evolving, it encompasses a spectrum of disease phenotypes that may occur following an acute PE, which ranges from dyspnea, functional limitation, or cardiac impairment to chronic thromboembolic disease and chronic thromboembolic pulmonary hypertension. This review will describe the different PPES phenotypes, including their physiological basis, diagnosis and workup, and management following acute PE. Full article

Background/Objectives: To evaluate whether a TSH-receptor antibody (TRAb)-first, one-sample diagnostic strategy improves etiologic classification of overt hyperthyroidism compared with conventional pathways, and to assess its implications for imaging use, diagnostic accuracy, and cost efficiency. Methods: In this multicentre retrospective study, 274 adults with newly diagnosed overt hyperthyroidism underwent TRAb measurement, thyroid ultrasound, and scintigraphy during a single clinical encounter. Scintigraphy served as the functional reference standard. We compared the diagnostic performance of TRAb and ultrasound, modeled TRAb-first diagnostic algorithms, and estimated the potential impact of reflex TRAb testing on diagnostic workflow and resource use. Results: Graves’ disease (GD) accounted for 65% of cases. TRAb showed excellent diagnostic accuracy for GD (sensitivity 92.0%, specificity 96.0%; κ = 0.86) and markedly outperformed ultrasound (sensitivity 66.9%, specificity 62.5%; κ = 0.43). A TRAb-first pathway in which TRAb-positive patients are directly classified as GD and TRAb-negative patients undergo scintigraphy achieved 100% sensitivity, 95.8% specificity, and the lowest overall misclassification rate. Replacing scintigraphy with ultrasound in TRAb-negative patients substantially reduced specificity (~60%) and yielded significant overdiagnosis of GD. Ultrasound identified numerous nodules but detected only one low-risk carcinoma (malignancy rate: 1.2%), suggesting limited oncologic yield. A TRAb-first strategy would have avoided two-thirds of scintigraphies and minimized unnecessary imaging. Conclusions: A TRAb-first diagnostic approach offers the most accurate, efficient, and clinically appropriate pathway for etiologic assessment of overt hyperthyroidism. Scintigraphy should be reserved for TRAb-negative patients, while ultrasound should be used selectively for structural evaluation rather than as part of routine etiologic work-up. Reflex TRAb testing may further streamline care by enabling rapid, one-sample etiologic diagnosis and reducing resource use. Full article

Background: Iatrogenic cerebral amyloid angiopathy (iCAA) is a rare form of CAA occurring decades after neurosurgical procedures involving cadaveric dural grafts. While typically associated with recurrent lobar intracerebral hemorrhages, recent reports suggest a possible overlap with CAA-related inflammation (CAAri). We report a case of iCAA with features indicative of active neuroinflammation that demonstrated a positive response to immunosuppressive therapy. Methods: Over a 12-year natural history, the patient underwent a comprehensive work-up, including serial clinical assessments, brain MRIs, core CSF biomarker analysis, amyloid PET imaging, and next-generation sequencing panel testing. Results: Previous clinical charts confirmed the use of cadaveric graft (Lyodura) in a neurosurgical intervention thirty years before. During hospitalization for seizures, brain MRI revealed, along with a severe form of CAA, an area of vasogenic edema. Given the suspicion of an active inflammatory process, corticosteroid and subsequent methotrexate maintenance therapy were introduced, leading to clinical and radiological improvement. Over 30 months of follow-up, the patient has remained clinically and radiologically stable, with no new hemorrhagic or inflammatory events. Conclusions: This case highlights the potential interplay between iCAA and neuroinflammation. The absence of new hemorrhages following immunosuppression suggests a possible disease-modifying effect, warranting further investigation into the role of neuroinflammation in iCAA and its therapeutic implications. Full article

Background and clinical significance: Idiopathic hypertrophic pachymeningitis (IHPM) is a rare inflammatory disorder characterized by diffuse or focal dural thickening and heterogeneous presentations. We report a corticosteroid-responsive IHPM with elevated anti-thyroglobulin (anti-Tg) antibodies despite oncologic control after thyroidectomy. This case suggests that systematic assessment for autoimmunity should be a standard component of the IHPM work-up. Case presentation: A 77-year-old woman presented with recurrent vertigo, imbalance, and headaches. Brain MRI showed diffuse pachymeningeal thickening with mild heterogeneous enhancement, radiologically stable over >2 years. Extensive evaluation excluded infectious, neoplastic (including paraneoplastic), cerebrospinal fluid hypotension and systemic autoimmune causes; findings did not support IgG4-related disease. Thyroid work-up revealed hypothyroidism with multinodular goiter; total thyroidectomy was performed, and there was no indication for adjuvant radioiodine therapy. Despite oncologic control, anti-Tg antibodies remained markedly elevated, while anti-thyroid peroxidase antibodies (anti-TPO) declined. Symptoms repeatedly improved with oral methylprednisolone and recurred on taper; adverse effects were mild and manageable. The patient remains under clinical and oncologic surveillance with symptom-guided steroid re-challenge. Conclusions: IHPM may exhibit a dissociation between clinical response and radiologic course. Persistently elevated anti-Tg after thyroidectomy can coexist with IHPM and may signal ongoing autoimmunity rather than active cancer. Full article

Background/Objectives: Combined chromosome 7 gain and chromosome 10 loss (+7/−10) is the most frequent cytogenetic alteration and a defining diagnostic criterion for isocitrate dehydrogenase wild-type (IDHwt) glioblastoma. Despite the association with poor prognosis, its clinical and therapeutic significance remains unclear. We aim to systematically review its clinical significance, focusing on prevalence, prognostic value, and potential association with therapeutic resistance in adult patients. Methods: PubMed, Embase, CENTRAL, Scopus, EBSCOhost, and Web of Science were searched from inception to April 2025, using controlled vocabulary and free-text terms. Eligible studies included adult glioblastoma with molecular confirmation of combined chromosome 7 gain and chromosome 10 loss and reported survival or treatment response. Quality was assessed qualitatively, and findings were synthesized descriptively. Results: Of 3249 records, 5 observational studies (523 patients) were included. The signature was present in 60% to 70% of glioblastoma cases and frequently co-occurred with epidermal growth factor receptor amplification and telomerase reverse transcriptase promoter mutations. This alteration was consistently associated with shorter survival (mean, 8–70 weeks) compared with tumors lacking the alteration (19–170 weeks). In one study, the signature was more common in radioresistant tumors (9/20 vs. 1/10). Molecular evidence suggests that this alteration arises early in tumorigenesis. Conclusions: The +7/−10 cytogenetic alteration, common in glioblastoma, is frequently associated with aggressive clinical behavior. While exploratory data suggest a possible association with radiotherapy response, current evidence is insufficient to establish a predictive or therapeutic role. Its principal clinical value lies in diagnosis, molecular classification, and risk stratification. Incorporating cytogenetic testing for this alteration into routine glioblastoma workup may improve risk stratification and guide individualized management. Full article