Overall Survival of Primary Single Intracranial Atypical Meningioma with Different Surgical and Postoperative Treatment Options: Evidence from the SEER Database.

Objective: The aim of this study is to evaluate the impact of different surgical and postoperative treatment options on the long-term overall survival (OS) in patients with primary single intracranial atypical meningioma. Methods: In this retrospective study, participants were drawn from the Surveillance, Epidemiology, and End Results (SEER) database. Inclusion criteria comprised patients who underwent either gross total resection (GTR) or subtotal resection (STR). The inverse probability weighting (IPW) method using generalized boosted models was used to achieve balance in variables across various treatment groups. Subsequent to IPW, multivariate Cox analysis and Kaplan-Meier analysis were conducted, with OS as the endpoint. Results: GTR was conducted on 1650 patients, while STR was conducted on 1109 patients. Among these, 432 patients who underwent GTR and 401 patients who underwent STR received postoperative radiotherapy (PORT). In the case of patients who were under 60 years old, PORT emerged as a significant protective factor for OS in those who underwent STR (HR 0.44; 95% CI 0.23-0.84; p = 0.013). Survival curves demonstrated that patients who underwent STR with PORT exhibited comparable OS to those who underwent GTR without PORT (p = 0.546). Conversely, for patients aged 60 years or older, PORT emerged as an independent risk factor for both GTR (HR 1.42; 95% CI 1.00-2.00; p = 0.048) and STR (HR 1.81; 95% CI 1.26-2.60; p = 0.001). Conclusion: PORT may contribute to improving OS in primary single atypical meningioma patients under 60 years old who receive STR. However, in older patients who underwent either GTR or STR, the administration of PORT may be associated with a potential risk of OS. Therefore, age should be taken into account in applying PORT therapy, and the optimal treatment strategy for PORT in patients with atypical meningiomas needs to be further explored and validated.

A Unique Case of Moraxella catarrhalis Meningitis Following Neurosurgical Intervention.

We present a rare case of Moraxella catarrhalis meningitis in a 51-year-old immunocompetent woman after surgical resection of a fourth ventricle ganglioma. Notably, the patient had no history of sinusitis or otitis media, which are typical predisposing factors for Moraxella infection. She developed symptoms including headache, altered mental status, and neurological deficits three days post discharge, leading to her diagnosis confirmed by cerebrospinal fluid culture. This case highlights the diagnostic challenges and management complexities of atypical meningitis post neurosurgery. The occurrence emphasizes the necessity of considering Moraxella catarrhalis in differential diagnoses, particularly following neurosurgical procedures. This instance contributes to the scarce documentation of such infections in immunocompetent adults, underscoring the importance of vigilant microbiological evaluation and tailored antimicrobial therapy in postoperative settings.

46,XX Differences of Sex Development outside congenital adrenal hyperplasia: pathogenesis, clinical aspects, puberty, sex hormone replacement therapy and fertility outcomes.

The term 'differences of sex development' (DSD) refers to a group of congenital conditions that are associated with atypical development of chromosomal, gonadal, and/or anatomical sex. DSD in individuals with a 46,XX karyotype can occur due to fetal or postnatal exposure to elevated amount of androgens or maldevelopment of internal genitalia. Clinical phenotype could be quite variable and for this reason these conditions could be diagnosed at birth, in newborns with atypical genitalia, but also even later in life, due to progressive virilization during adolescence, or pubertal delay. Understand the physiological development and the molecular bases of gonadal and adrenal structures is crucial to determine the diagnosis and best management and treatment for these patients. The most common cause of DSD in 46,XX newborns is congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, determining primary adrenal insufficiency and androgen excess. In this review we will focus on the other rare causes of 46,XX DSD, outside CAH, summarizing the most relevant data on genetic, clinical aspects, puberty and fertility outcomes of these rare diseases.

Hemorrhagic and Ecthymatous Varicella in Immunosuppressed Adults: Report of Two Cases.

Varicella infection in immunosuppressed adults can be severe with atypical presentation of skin lesions. Hemorrhagic and ecthymatous varicella is a rare entity and can be misdiagnosed due to its atypical presentation. In its severe form, individuals with underlying cell-mediated immunodeficiency disorders have a high risk of developing multiple organ involvement associated with varicella-zoster virus infection. Here, we report two cases of primary varicella with hemorrhagic and ecthymatous skin lesions in adults receiving systemic immunosuppressive drugs for autoimmune disorders. There are only a few case reports on hemorrhagic and ecthymatous varicella. Hence, this case report highlights the atypical presentation of varicella in immunosuppressed adults, which necessitates an early diagnosis and prompt treatment as a lifesaving step.

Orbital Apex Metastases From Primary Colorectal Adenocarcinoma: A Rare Cause for Unilateral Vision Loss.

Colorectal cancer is one of the most common causes of cancer-related death in the United States. Although it frequently metastasizes to adjacent structures such as the liver, orbital metastases are exceedingly uncommon. Additionally, the morbidity and mortality associated with colorectal cancer appear to be shifting to a younger population, a phenomenon that is exacerbated in minority populations. We present a case of orbital metastasis from colorectal carcinoma in a young Hispanic male. This uncommon presentation of disease emphasizes the link between healthcare disparity and differential outcomes of colorectal cancer.

Case report of streptococcal infection as a potential precipitating factor in cutaneous polyarteritis nodosa in pediatric patients.

Key Clinical Message: This pediatric case report underscores the importance of maintaining a high clinical suspicion for polyarteritis nodosa (PAN) in patients presenting with atypical features, such as migratory arthritis and subcutaneous nodules. Importantly, it highlights the focus on the potential relationship between streptococcal infection and cutaneous PAN. Early recognition and prompt, aggressive treatment is critical, as PAN can be a life-threatening condition if left unmanaged. This case emphasizes the need for a multidisciplinary approach to effectively identify and manage this rare vasculitis disorder in the pediatric population. Abstract: Polyarteritis nodosa (PAN) is a rare and life-threatening vasculitis with diverse clinical presentations, posing a diagnostic challenge. Early recognition and prompt intervention are crucial to prevent organ damage. We present the case of an 8-year-old boy who exhibited atypical symptoms including migratory arthritis, myalgia, digital discoloration and ischemic changes, and subcutaneous nodules. Initial concerns for septic arthritis were ruled out. A comprehensive evaluation revealed elevated inflammatory markers and a confirmatory skin biopsy demonstrating active leukocytoclastic vasculitis, are highly suggestive of a diagnosis of PAN. Notably, elevated ASO titers suggested a possible concurrent streptococcal infection. The aggressive treatment approach with high-dose aspirin, steroids, methotrexate, and tocilizumab is justified given the severity of the patient's symptoms and the nature of the disease process. This case underscores the importance of considering PAN in the differential diagnosis for children presenting with atypical features. Early diagnosis and prompt intervention, including addressing potential infectious triggers, are crucial for optimal outcomes in pediatric PAN.

Plasma Exchange in Postpartum Hemorrhage (PPH)-Associated Thrombotic Microangiopathy (TMA): A Case Report.

Thrombotic microangiopathy (TMA) is a rare yet potentially life-threatening condition. The diagnosis is difficult as there are other conditions presenting with features akin to TMA during the peripartum period such as eclampsia, preeclampsia, hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome, and antiphospholipid syndrome. A 28-year-old woman with no significant past medical history developed TMA following a massive hemorrhage after an emergency cesarean section at 41 weeks of gestation. This case was finally diagnosed as postpartum hemorrhage (PPH)-associated TMA. The patient fully recovered after plasma exchange therapy. We posit the value of accumulating case reports, given that the documentation on the efficacy of plasma exchange in PPH-associated TMA is limited.

Case report: Myelitis and ganglionitis, an atypical presentation of Hansen's disease.

Hansen's disease, or leprosy, is a disease characterized by dermatological and neurological disorders. A neural form also exists, in which peripheral neuropathy occurs in the absence of skin lesions. However, cases of leprosy that involve the central nervous system and proximal nerves are rare in the literature. We describe the case of an oligosymptomatic patient diagnosed with the neural form of leprosy with involvement of peripheral nerves, dorsal root ganglion, and cervical spinal cord in an atypical presentation of the disease. Through complementary examinations and nerve biopsies, the bacillus was identified, and treatment was subsequently initiated. This case highlights the importance of investigating the suspicion of leprosy, even in cases with atypical manifestations, as early diagnosis and treatment can reduce neurological damage and deformities.

Legionella pneumonia: A Case of Fever Prolonged for 10 Days.

Legionnaires' disease is a potentially severe type of pneumonia most often caused by the organism Legionella pneumophila. Exposure to this bacterial pathogen typically happens in the community but may also occur in the hospital setting. This report describes the case of a patient who presented due to 10 days of fever, shortness of breath, and diarrhea, with initial imaging demonstrating multifocal pneumonia. The patient was appropriately started on empiric antibiotics for community-acquired pneumonia and admitted to the medicine floor. The patient showed no meaningful improvement in his initial hospital course on empiric antibiotics with continued oxygen requirements. Meanwhile, urine Legionella antigen testing returned positive on hospital day four, and after tailoring antibiotics accordingly, the patient's clinical status improved significantly. This case report highlights the efficacy of broad testing in the initial admission and the need for constant re-evaluation in the context of a patient not improving with appropriate therapy.

A rare case report of a primary lung cancer comprising adenocarcinoma and atypical carcinoid tumor, with the carcinoid component harboring EML4-ALK rearrangement.

Background: The occurrence of pulmonary adenocarcinoma coexisting with atypical carcinoid tumors is a rare phenomenon. The presence of EML4-ALK fusion in an atypical carcinoid component of a histologically mixed tumor is even more uncommon. Due to their infrequency, the origin and pathogenesis of these mixed tumors remain largely unknown. The advances of therapy development in such patients are still limited and there is no standard treatment. We present a case of collision tumor in the lung consisting of atypical carcinoid and adenocarcinoma to better understand the clinical characteristics of this disease. Case Description: We report an extremely rare case of EML4-ALK rearrangement in a pulmonary atypical carcinoid tumor that coexisting with adenocarcinoma. A 58-year-old woman, who was asymptomatic, underwent pulmonary lobectomy due to the detection of a gradually enlarging solitary pulmonary nodule in the right upper lung. Histological examination of the resected tumor revealed the presence of both atypical carcinoid (approximately 80%) and adenocarcinoma (approximately 20%) components. Metastases by the carcinoid component were observed in mediastinal lymph nodes (station 2R and 4R) and in the primary tumor. Anaplastic lymphoma kinase (ALK) rearrangement was detected in both the primary and metastatic lesions of the carcinoid tumor. Four cycles of chemotherapy with etoposide and carboplatin were dispensed after surgery. Conclusions: This is the first reported case of coexisting pulmonary adenocarcinoma and atypical carcinoid tumor with an ALK fusion only detected in the carcinoid component. The presence of ALK rearrangement in pulmonary carcinoid tumor is very uncommon, and there is currently no standard treatment for advanced stages. Therefore, comprehensive molecular testing, including ALK rearrangement analysis, should be recommended for mixed tumors exhibiting features of atypical carcinoid. ALK inhibitors could represent a potential treatment strategy for selected patients.

Comprehensive functional characterization of Complement factor I rare variant genotypes identified in the SCOPE Geographic Atrophy cohort.

Rare variants (RVs) in the gene encoding the regulatory enzyme complement factor I (CFI; FI) that reduce protein function or levels increase age-related macular degeneration (AMD) risk. A total of 3357 subjects underwent screening in the SCOPE natural history study for Geographic Atrophy (GA) secondary to AMD, including CFI sequencing followed by serum FI measurement. Eleven CFI RV genotypes that were challenging to categorise as Type I (low serum level) or Type II (normal serum level but reduced enzymatic function) were characterized in the context of pure FI protein in C3b and C4b fluid phase cleavage assays and a novel bead-based functional assay (BBFA) of surface-bound C3b cleavage. A further 4 variants predicted or previously characterized as benign, were analysed using the BBFA to add confidence to their classification. In all, 3 variants [W51S, C67R, I370T] resulted in low expression. A further 4 variants [P64L, R339Q, G527V and P528T] were identified as being highly deleterious with IC50s for C3b breakdown >1 log increased vs the WT protein, while 2 variants [K476E and R474Q] were ∼1 log reduced in function. Meanwhile, 6 variants [P50A, T203I, K441R, E548Q, P553S, S570T] had IC50s similar to wild-type (WT). Odds ratios (ORs) and BBFA IC50s were positively correlated (r=0.76, P<0.01), whilst ORs vs combined annotation dependent depletion (CADD) scores were not (r=0.43, P=0.16). Overall, 15 CFI RVs were functionally characterized which may aid future patient stratification approaches for complement-targeted therapies. Pure protein in vitro analysis remains the gold standard for determining the functional consequence of CFI RVs.

Clinical polymorphism of zoonotic cutaneous leishmaniasis: combination of the clinical and the parasitological diagnosis.

Zoonotic cutaneous leishmaniasis (ZCL) is a neglected tropical disease caused by Leishmania (L.) major. This zoonosis is characterized by a broad-spectrum clinical polymorphism and may be underestimated and poorly treated since it is a simulator of various dermatoses. The aim of our study was to analyze the clinical polymorphism of patients with ZCL. A total of 142 patients with confirmed CL based on the microscopic examination of skin lesion biopsies were included in this study. Molecular typing of Leishmania species revealed that all patients were infected with L. major. In total, 14 clinical forms were observed. Six were typical and eight were atypical. The typical ZCL forms are grouped as follows: papular (26.76%), ulcero-crusted (26.05%), ulcerated (13.38%), impetiginous (9.86%), nodular (9.15%), and papulo-nodular (5.63%) lesions. In atypical ZCL forms, we described erythematous (2.81%), erysipeloid (1.4%), sporotrichoid, (1.4%), keratotic (0.7%) lupoid (0.7%), lichenoid (0.7%), psoriasiform (0.7%), and zosteriform (0.7%) lesions. Here, the lichenoid and the keratotic forms caused by L. major were reported for the first time in Tunisia. These findings will help physicians to be aware of the unusual lesions of ZCL that could be confused with other dermatological diseases. For this reason, it will be necessary to improve the diagnosis of CL especially in endemic areas. Such large clinical polymorphism caused by L. major may be the result of a complex association between the vector microbiota, the parasite, and the host immune state, and further studies should be carried out in order to reveal the mechanisms involved in clinical polymorphism of ZCL.

Multiparameter MRI-based radiomics nomogram for preoperative prediction of brain invasion in atypical meningioma:a multicentre study.

OBJECTIVE: To develop a nomogram based on tumor and peritumoral edema (PE) radiomics features extracted from preoperative multiparameter MRI for predicting brain invasion (BI) in atypical meningioma (AM). METHODS: In this retrospective study, according to the 2021 WHO classification criteria, a total of 469 patients with pathologically confirmed AM from three medical centres were enrolled and divided into training (n = 273), internal validation (n = 117) and external validation (n = 79) cohorts. BI was diagnosed based on the histopathological examination. Preoperative contrast-enhanced T1-weighted MR images (T1C) and T2-weighted MR images (T2) for extracting meningioma features and T2-fluid attenuated inversion recovery (FLAIR) sequences for extracting meningioma and PE features were obtained. The multiple logistic regression was applied to develop separate multiparameter radiomics models for comparison. A nomogram was developed by combining radiomics features and clinical risk factors, and the clinical usefulness of the nomogram was verified using decision curve analysis. RESULTS: Among the clinical factors, PE volume and PE/tumor volume ratio are the risk of BI in AM. The combined nomogram based on multiparameter MRI radiomics features of meningioma and PE and clinical indicators achieved the best performance in predicting BI in AM, with area under the curve values of 0.862 (95% CI, 0.819-0.905) in the training cohort, 0.834 (95% CI, 0.780-0.908) in the internal validation cohort and 0.867 (95% CI, 0.785-0.950) in the external validation cohort, respectively. CONCLUSIONS: The nomogram based on tumor and PE radiomics features extracted from preoperative multiparameter MRI and clinical factors can predict the risk of BI in patients with AM.

Plasmodium falciparum neonatal malaria with atypical presentation: a case series from southwestern Ethiopia.

BACKGROUND: Neonatal malaria is defined as the detection of asexual stages of Plasmodium species in the cord blood within the first 28 days of life. It can be congenital or acquired through mosquito bites or blood transfusions. Neonates are generally considered to be relatively protected due to the multiple innate and acquired physiological protective effects present in neonates. However, in areas where malaria is endemic, the prevalence of malaria in neonates is high. The predominant clinical feature of malaria in neonates is fever. Other clinical manifestations of neonatal malaria include respiratory distress, pallor and anaemia, hepatomegaly, refusal to feed, jaundice and diarrhoea. Atypical presentations without fever can lead to inaccurate diagnosis and contribute to neonatal morbidity and mortality. Neonates from endemic areas with any of the above symptoms should be screened for malaria. CASE PRESENTATION: We present a series of three cases of neonatal Plasmodium falciparum malaria that presented atypically without febrile episodes and were diagnosed and managed at Mizan-Tepi University Teaching Hospital between July and September 2023. The first patient presented with vomiting, refusal to feed, pallor, severe anaemia, and splenomegaly. The second patient presented with an inconsolable cry, failure to pass feces, abdominal distention, and anaemia. The third patient presented with vomiting and anaemia. All patients received a 7-day course of intravenous artesunate; the first patient also received a blood transfusion. All patients recovered and were discharged. CONCLUSIONS: Partial immunity resulting from repeated malaria infections in endemic regions may result in the transfer of high levels of maternal Immunoglobulin G (IgG) antibodies through the placenta and can produce different atypical clinical presentations. In malaria-endemic areas, neonates presenting with any of the presenting signs and symptoms of malaria, including afebrile presentation, require malaria screening to avoid delays in diagnosis.

Lepra Reactions: Mimickers and Mirror to Unmask Complex Cases of Leprosy.

Leprosy is a silent disease with protean manifestations, especially during lepra reactions (LRs). Cases with atypical leprosy or LR simulate a number of conditions misdiagnosed frequently. Here, three classical cases of leprosy are reported for their complex presentation. Leprosy was hidden in Case 1 due to co-existing diabetes. COVID vaccination induced LR unmasked all leprosy lesions, which were extensive, large, bizarre and spreading to various immune zones. Case 2 presented with high-grade fever, tachycardia, generalized erythema and body aches. A detailed workup unveiled his leprosy with a rare presentation of Type 1 lepra reaction (T1LR) with erythroderma and severe systemic symptoms. Case 3 mimicked sarcoidosis and lupus erythematosus (LE) on routine workup. She had facial lesions in the malar area, photosensitivity, joint pains, raised angiotensin-converting enzyme (ACE) levels and positive anti-nuclear antibodies. Peri-appendageal granulomas on histopathology and therapeutic response to multidrug therapy helped in the early diagnosis of leprosy.

Myxoma Involving the Pulmonary Valve - A Case Report of an Atypical Cardiac Tumor, Treated Using an Unusual Approach.

Background: Atypical myxoma has been reported in various locations in the heart, however, myxoma involving the pulmonary valve is rare. Here we present a case of pulmonic valve myxoma which was resected via a percutaneous approach. Case Report: A 66-year-old female with known metastatic adenocarcinoma of the lung, and chronic obstructive pulmonary disease presented with acute onset shortness of breath for two days. The patient experienced respiratory arrest en-route to the hospital and required intubation. Computed tomography angiography (CTA) of the chest revealed a new 1.4 × 1.6 cm intracardiac mass along the pulmonary valve. Further evaluation with cardiac magnetic resonance imaging revealed it to be a large vascular tumor on the ventricular side of the pulmonary valve, attached with a narrow stalk. Due to high surgical risk, the patient underwent transesophageal echocardiographic guided percutaneous removal of the mass. Pathology confirmed the mass to be a myxoma. Conclusion: Atypical myxoma should be considered in the differential diagnosis of valvular masses. Percutaneous resection of valvular masses may be feasible in high-risk surgical patients. LEARNING POINTS: Pulmonary valve myxoma is a rare condition and the literature on the characteristics and treatment options for pulmonary valve myxoma is limited.Our patient was treated with a minimally invasive treatment approach: removal of a tumor with intra operative transesophageal echocardiographic guidance using AngioVac and Flow Triever catheters.Percutaneous resection of valvular masses may be feasible in high surgical risk patients.

Contrast-enhanced ultrasound (CEUS) characteristics of atypical-enhanced papillary thyroid carcinoma (PTC).

OBJECTIVE: To investigate the diagnostic value of CEUS in atypical-enhanced PTC. METHODS: The clinical data, qualitative and quantitative parameters of CEUS in 177 Iso/hyper-enhanced thyroid nodules with definite pathological results were retrospectively analyzed in the Lanzhou University Second Hospital from June 2019 to January 2021. And the clinical value of CEUS in the diagnosis of atypical-enhanced PTC was assessed using univariate and multivariate analysis. RESULTS: Among the 177 thyroid nodules, 59 were benign and 118 were PTC. There were significant differences in age, enhancement border, ring enhancement, speed of wash in, speed of wash out, enhancement pattern, capsule interruption, time to peak, time to wash out, RT, TPH, and TTP (P < 0.05). Multivariate analysis showed unclear enhancement border and concentric enhancement were independent risk factors for the diagnosis of atypical-enhanced PTC by CEUS. The sensitivity, specificity, PPV, NPV, and accuracy of the model in diagnosing atypical-enhanced PTC were 88.1%, 71.2%, 86.0%, 75.0%, and 82.5%, respectively. The area under the curve (AUC) of the receiver operating characteristic (ROC) curve was 0.910. CONCLUSION: The diagnosis of atypical-enhanced PTC can be better performed by enhancement characteristics and time intensity curve (TIC) of CEUS, which have a good clinical application value.

Atypical suicide by single incising cut to the throat without hesitation marks: Case report and review of the literature.

Several studies have been performed to recognize the main features in homicide and suicide sharp wound-related death, revealing that a single cutting wound to the neck is an infrequent event in suicide cases, and several hesitation marks near the fatal injury are usually present. We report a case of an atypical self-inflicted cutthroat injury without tentative marks involving a 79-year-old female. The weapon used, a kitchen knife, was found at the crime scene. The wound had clean margins, and no other incisions were found. Scene circumstances, namely the absence of signs of a break-in, the victim found on the bed, the knife located near the body, the vital wound in an accessible site, and the absence of defense injuries, collectively support a likely suicide. A literature review was also performed to compare forensic data of the case presented with the other 6 cases reported regarding atypical suicide characterized by a single incising cut to the throat without hesitation marks. Given the few cases reported and the lack of gross descriptions and histopathological data available in the literature, additional knowledge of such a case may help forensic pathologists in the identification of suicidal events when a single neck injury is observed. In this frame, suicide by a unique single incising cut to the throat without hesitation marks near the lethal injury may be observed as an atypical presentation, and the crime scene investigation, together with additional background information of the deceased, aid in the identification of the manner of the death.