Reports, Volume 7, Issue 2 (June 2024) – 28 articles

Pineal-region tumors are a histologically heterogeneous group of tumors and represent a rare occurrence, accounting for less than 1% of all adult intracranial tumors. Among these, primary pineal malignant melanomas (PPM) represent an even rarer entity, with only twenty-five cases being reported in the literature to date. We present the case of a 65-year-old patient who presented in our department for progressive headache, gait disturbance and memory impairment. Magnetic resonance imaging (MRI) of the brain revealed a solid mass in pineal region, measuring 2.2 × 1.2 × 2.0 cm and causing obstructive hydrocephalus. He underwent a third ventriculostomy, but we failed to obtain a sample for diagnostic purposes. The intraoperative surprise was the presence, at the level of the third ventricle, of multiple melanin deposits, which were not picked up by the MRI. Although the biopsy could not be performed and had to be obtained by stereotactic biopsy in a second intervention, the endoscopy findings allowed for the correct staging of the intracranial disease and appropriate treatment management. Full article

Background: Congenital absence of pericardium is a rare cardiac disorder with a reported incidence of less than 1 in 10,000. Although most of the cases are of little clinical significance, some of them are associated with serious complications, including risk of herniation and strangulation or coronary artery compression. Detailed Case Description: We report a case of a 36-year-old male referred for routine cardiovascular examination. He had a medical history of a heart murmur since childhood. Electrocardiogram (ECG) revealed sinus rhythm, normal axis, poor R-wave progression in the precordial leads and repolarization abnormalities with negative T waves in leads V1–V4. On 2D transthoracic echocardiography (TTE), an unusual heart position was noted with poor image quality from the standard acoustic windows. The parasternal long axis view gave the impression of right ventricular dilatation. The findings raised the suspicion of left to right shunt and possible atrial septal defect. For further evaluation, the patient was referred for cardiac magnetic resonance which demonstrated complete left-sided absence of the pericardium. Discussion: Due to indistinct and atypical symptoms and lack of clinical awareness, pericardial congenital absence is frequently misdiagnosed. Patients may complain of atypical chest pain. Patient’s history and physical examination are often nonspecific. In cases with complete pericardial absence, ECG findings may include right axis deviation, right bundle block and sinus bradycardia. Echocardiography findings are also not characteristic, but some may raise the clinical suspicion of this diagnosis. The imaging modalities of choice are computed tomography and cardiac magnetic resonance. Treatment depends on the type of defect and clinical symptoms. Full article

Background: Airway management in Duchenne patients can be challenging. We present a case of an anticipated difficult airway in a 24-year-old Duchenne patient that was managed by planning different suitable strategies based on the unanticipated difficult airway algorithm of the Difficult Airway Society (DAS). Case presentation: The patient initially presented with appendicitis, requiring a laparoscopic appendectomy within 6 h. Due to the underlying condition and a known difficult airway, we anticipated potential airway problems and successfully managed the “can ventilate but cannot intubate” situation using the algorithm. The difficult airway was attributed to reduced mandibular mobility, limited inclination or reclination, a large tongue, prominent incisors, and a posteriorly positioned epiglottis. Despite thorough preparation and team briefing, we experienced three failed intubation attempts. Considering limited nighttime resources, the urgency of the surgery, the need for a tube for laparoscopy, and the risk of exacerbating airway issues, we made the decision to awaken the patient and wait for a second attempt after the epiglottis swelling had subsided. We used reversible, short-acting agents for induction, enabling us to continue with the algorithm within the allotted timeframe. In a second stage, we successfully performed fiberoptic-guided intubation via a supraglottic airway device using the Aintree intubation catheter, utilizing more favorable resources. Conclusions: For a patient with Duchenne muscular dystrophy and a difficult airway, advanced expertise is critical. Detailed anesthesia planning, clear team communication, and the use of reversible, short-acting agents are crucial. Adherence to the Difficult Airway Society guidelines is essential for safe airway management. Full article

The nasal cavity is a sporadic site for mesiodens, and if it is impacted in the lower nasal floor or localized in the nasal septum, it may cause various nasal symptoms such as nasal obstruction, recurrent rhinitis, and epistaxis. Early diagnosis is made through clinical findings and a cone-beam computed tomography (CBCT) scan, but a definite treatment plan has not yet been developed. This study aims to present a case of a mesiodens in a 27-year-old male, located in the nasal septum, an unusual and rare site, and its surgical removal using an endoscopic nasal approach with subperiosteal intranasal dissection. The result of the study appears significant because this technique led to fewer postoperative complications, and it appears to be safer and more effective than the traditional palatal or transoral approach. Moreover, the nasal endoscopic approach is more natural to the ear, nose, and throat (ENT) surgeons than the transoral approach. Full article

The eruption of a rash along with spiking fever in travelers returning from the tropics may be suspicious of arboviral diseases, and isolation prevent further transmission in non-endemic countries. The case presented here was seen at the Fever Clinic at the Hospital for Tropical Diseases in Bangkok, Thailand. The presenting complaints were fever, headache, myalgia, and a distinctive erythematous blanching rash. Despite a negative dengue NS1 test on the initial day, anti-dengue IgM and IgG were detectable on day five of illness. Dengue, a leading cause of traveler’s fever with rash, is of particular concern, especially during outbreaks like the one in Thailand in 2023, when the number of cases exceeded one hundred thousand over a nine-month period. The influx of 28 million travelers in 2023, many with naive immunity to many arboviruses, raises fear of transmission to temperate regions, including to countries like France, where Aedes albopictus establishment can lead to autochthonous dengue cases and clusters. Enhanced surveillance is crucial, urging the consideration of dengue as a potential diagnosis in travelers with febrile rash, even prior to lab confirmation. Immediate isolation of patients is essential to prevent autochthonous transmission, reduce outbreak risks, and avert public health crises. Full article

Tibial Periprosthetic fractures (PPF) after primary total knee arthroplasty (TKA) are uncommon and mainly occur after trauma. Various management options have been proposed; however, the decision mainly relies on the location of the fracture and the tibial baseplate stability and ranges between conservative (non-operative), fracture fixation, and revision TKA. We report a case of a 79-year-old female patient who presented with atraumatic lateral tibial plateau PPF (Felix type ⅠB) with a loose tibial implant after three weeks of having left primary TKA. The patient was treated successfully by revising the tibial component using a stemmed tibial baseplate and reconstructing the tibial bone defect using two metal wedges. The radiological, functional, and PROM outcomes were satisfactory and accepted both early on (eight weeks) and at the last follow-up (six months). Atraumatic insufficiency Felix type ⅠB PPF of the lateral tibial plateau after primary TKA is uncommon. Reconstructing the tibial bone defect, revising the tibial component, and adding a stem to offload the tibial plateau are the treatments of choice that lead to acceptable outcomes. Full article

While insertion of a central venous catheter (CVC) for intravascular access, diagnosis, and intensive care medical treatment is frequently needed in critically ill patients, retention of the guidewire used for CVC placement with Seldinger’s technique is a very rare complication. In patients treated with extracorporeal membrane oxygenation (ECMO), significant negative pressures in the thoracal and abdominal venous system are generated by the venous ECMO drainage cannula. Therefore, during CVC placement in patients treated with ECMO, special vigilance is required because the significant negative pressures generated by the venous ECMO drainage cannula facilitate venous suction of an unsecured guidewire. Full article

Objective: Chloroquine (CQ) and hydroxychloroquine (HCQ) were used as off-label treatments for SARS-CoV-2 infection during the first pandemic waves. The urgency of combatting COVID-19 led to the dissemination of medical recommendations with a scarce awareness of possible drug–drug interactions. This issue primarily concerned people already taking multiple medications, such as older individuals. We estimated the prevalence of drug interactions with CQ or HCQ in COVID-19 inpatients during the first pandemic waves and their possible association with hospitalization-related outcomes. Methods: This study considers 487 patients aged ≥60, hospitalized for COVID-19 from March to December 2020, and treated with CQ or HCQ. Data on acute and chronic therapies and hospitalization length and outcomes were derived from medical records. The presence of drugs potentially interacting with CQ and HCQ was identified based on published literature and drug databases. Results: In our sample (mean age 77.1 years, 47.8% females), 255 (52.4%) patients presented with one drug interaction with CQ or HCQ, and 114 (23.4%) had more than two interactions. The most frequent drugs potentially interacting with CQ or HCQ were lopinavir/ritonavir (50.4%), azithromycin (47.2%), tocilizumab (15.4%), levofloxacin (8.7%), clarithromycin (6.0%), amlodipine (3.3%), and trazodone (2.4%). No substantial differences in the duration and outcomes of the hospitalization emerged as a function of the presence of drug–drug interactions. Conclusions: Many older patients prescribed with CQ or HCQ, which have lately proved ineffective against COVID-19, were exposed to the risk of drug–drug interaction. This underlines that medical recommendations should undergo careful peer review before being widely disseminated, even in emergencies like a pandemic. Full article

Background: This study aimed to compare the clinical outcomes of using two different devices to treat upper palatal discrepancies evaluated with a digital intraoral scanner. Methods: A total of 64 patients were enrolled and treated with either an elastodontic expansion device (32 patient test group, 16 females and 16 males, mean age 7.08 ± 0.44) or Haas expander (32 patient control group, 16 females and 16 males, mean age 7.32 ± 0.50). The two groups exhibited similar orthodontic features. The orthodontic criteria were: skeletal class I relationship; molar class I relationship; complete eruption of upper sixths; presence of unilateral or bilateral cross bite. All dental casts were examined and subsequently scanned with an intraoral scanner (I-Tero) pre-treatment (T0) and 12 months after the onset of therapy (T1) to assess the distance between the decidous upper canines (ICW, intercanine width) and the distance between the mesiopalatal cusps of the upper first molars (IMW, intermolar width). For statistical analysis, the t-test for continous variables and the chi-square test for categorical variables were used, respectively. Results: There were no statistically significant differences between the mean and SD of the expansions that resulted from the Haas expander and the elastodontic devices (Haas expander vs. Eptamed: ICW_T1 (Haas) = 42.34 (3.09), ICW_T1 (Eptamed) = 42.69 (2.77); p = 0.743; IMW_T1 (Haas) = 34.22 (2.29), IMW_T1 (Eptamed) = 34.00 (2.56); p = 0.800). The two devices were similarly effective. Conclusions: Elastodontic devices and the Haas expander can successfully help the orthodontist to conduct upper arch expansion treatment. However, elastodontic devices are more comfortable during the resolution of palatal discrepancies compared to palatal expander devices. Full article

Introduction: Descending necrotizing mediastinitis is one of the most lethal forms of acute mediastinitis. It originates from an odontogenic or deep neck infection, which descends to the mediastinum through the fascial planes. It is a rare condition, but mortality rates remain high, especially in the presence of comorbidities or predisposing factors. Delay in diagnosis has been shown to be one of the most important factors for the disease outcome. Therefore, early diagnosis and treatment by a multidisciplinary team are of utmost importance. Case series: Four healthy young males with descending necrotizing mediastinitis were treated at our institution. None of them had any comorbidities, but all of them waited between 3 and 4 days before seeking medical help. Upon their arrival at the hospital, in addition to the presence of a severe neck infection, the presence of mediastinitis was also found. Despite the timely surgical treatment of both the source of the infection and the mediastinitis, three of the four cases had a fatal outcome. Conclusion: We believe that the time factor is of greater importance for the outcome of acute descending mediastinitis than the factors of age and presence of accompanying diseases. Proper and rapid treatment by a multidisciplinary team is essential, even for young and healthy people. Full article

Familial hypercholesterolemia, a genetic disorder marked by elevated low-density lipoprotein cholesterol (LDL-C), poses significant risks for premature atherosclerosis and cardiovascular diseases, particularly during pregnancy. One of the safe methods of treating this condition in pregnancy is with the use of LDL apheresis. We present a 38-year-old primigravida with homozygous Familial Hypercholesterolemia (HoFH), ischemic cardiomyopathy, and angina pectoris. Two years before conception, extremely elevated lipid levels prompted statin therapy and lifestyle changes. Stent placements followed acute myocardial infarction. When planning pregnancy, statins were discontinued, but lipid levels elevated. LDL apheresis was initiated, achieving a 60% reduction. Throughout pregnancy, 16 LDL apheresis sessions were performed every 14 days, maintaining optimal lipid profiles. A cesarean section was performed in the 38th week of gestation, delivering a healthy infant. The patient resumed statin therapy after 8 months of breastfeeding. The patient maintained cardiovascular health, demonstrating the feasibility of controlled HoFH pregnancies. This case highlights the successful management of HoFH during pregnancy using LDL apheresis, ensuring maternal and fetal well-being. Future research on novel treatments and their safety during pregnancy is essential for refining therapeutic approaches in similar cases. Full article

Background and Objectives: Pancreatic pseudocysts often arise as complications of pancreatitis and present unique challenges in clinical management, encompassing considerations for both technical aspects and financial implications. Before the advancements of invasive gastroenterology, pancreatic pseudocysts have been drained surgically for many years. Nowadays, we have less invasive techniques with higher efficiency and lower mortality rates, however, they remain cost-challenging for most countries. Materials and Methods: We present four patients (two males and two females) with pancreatic pseudocysts who underwent endoscopic ultrasound-guided transgastric drainage using plastic stents accompanied by a standard lavage protocol using a nasocystic catheter. Results: All four patients had successful outcomes, and a follow-up at 6 months revealed no traces of the pseudocysts or any significant long-term complications. One acute complication (arterial bleeding) and one late complication (stent migration) were observed. As the study aimed to present a cheaper option for draining pancreatic pseudocysts, we investigated and compared costs for the materials we utilized and those associated with lumen-apposing metal stents. Upon compiling the data, a notable advantage was evident in favour of our method. Conclusions: While EUS-guided drainage of pancreatic pseudocysts using lumen-apposing metal stents (LAMSs) represents a high-end strategy for treating pancreatic pseudocysts, our method demonstrates better cost-effectiveness without compromising efficacy. Full article

Although trophoblast cell surface antigen 2 (Trop2)-targeting drugs are already approved or under investigation in various solid tumors, the significance of Trop2 in lymphoma is unknown. Thus, our objective was to investigate the expression of Trop2 in diffuse large B-cell lymphoma (DLBCL) through a systemic immunohistochemistry screening. We constructed a tissue microarray comprising tissue from 92 DLBCL patients, each diagnosed at the University Medical Center Hamburg-Eppendorf (2020–2022). Trop2-immunohistochemistry was carried out, and positive staining was deemed a specific membranous positivity. Four samples were derived from Epstein-Barr virus (EBV)-positive DLBCL, with one case of EBV-positive DLBCL following angioimmunoblastic T-cell lymphoma (AITL). Strong Trop2 immunostaining was detectable in 1 of 91 analyzable samples, originating from a patient with a composite EBV-positive DLBCL emerging from AITL. Therefore, we performed an additional database search to identify all cases of composite EBV-positive DLBCL emerging from AITL since 2015. Five additional cases were identified and stained for Trop2, revealing two cases with strong B-blast positivity. Our preliminary data imply that Trop2 appears absent in de novo DLBCL, whereas Trop2 is strongly expressed in cases of a rare variant of EBV-positive DLBCL. Further investigations are needed to confirm our results, particularly on the subset of EBV-positive DLBCL emerging from AITL. Full article

Gardasil 4, a human papilloma virus vaccine, has been shown to protect against various cancers, including cervical cancer. Common side effects include injection site pain, fever, headaches, and muscle aches. In some individuals, the severe side effect of postural orthostatic tachycardia syndrome (POTS) has been reported. POTS is characterized by the abnormal response of lightheadedness, blurry vision, and dizziness while transitioning to an upright posture. POTS predominately affects women, with more than eighty-five (85) percent of POTS patients being female. POTS, on average, takes five years and eleven months to receive diagnosis. Additionally, a strong association between POTS and Ehlers–Danlos Syndrome Type III (EDS) exists. Eighty (80) percent of patients with EDS have POTS. This severe side effect indicates that providers need to be aware of this strong association of HPV vaccinations and POTS. In this report, we will present a case of a young women with a past medical history significant for EDS type III who was diagnosed with POTS after receiving Gardasil 4 vaccination. This case demonstrates the need for physicians to be aware of the association of POTS with EDS type III and HPV vaccination. Physician awareness of the associations, signs, and symptoms of POTS and earlier testing at the first presentation of signs and symptoms will limit the negative impact on patient’s quality of life. Full article

Bone tumors often manifest with non-specific symptoms such as pain and swelling, often posing diagnostic challenges. Optimal treatment requires centralized care in specialized centers, emphasizing the need for complete tumor removal and interdisciplinary collaboration. We developed the Bone Tumor Surgery Complexity Score (BT-SCS) based on a retrospective study of 501 patients. The BT-SCS, structured around patient demographics, tumor biology, and surgical parameters, categorizes surgical cases into four groups to comprehensively assess complexity. Application of the BT-SCS resulted in scores ranging from 3 to 33, with an average score of 14 ± 7.2. Patients with malignant tumors had higher scores (19.6 ± 5.2) compared to those with benign (10.0 ± 3.8) or intermediate malignant tumors (14.6 ± 7.1). Patients with pelvic tumors registered the highest scores (16.0), followed by extremities/trunk (14.3) and spinal tumors (13.6). The BT-SCS was validated against the Case Mix Index (CMI), using an independent cohort of bone and soft tissue cases. This validation process, utilizing Loess smoothing, illustrated the BT-SCS’s granular differentiation of surgical complexity, particularly in the lower-to-mid-range of case severities. The BT-SCS represents a significant shift from volume-based to complexity-based assessments in surgical care, aligning with evolving healthcare paradigms. It serves as a tool for strategic patient allocation to treatment centers, aiming to improve outcomes and benchmarking in sarcoma care. The score’s development and application in clinical practice align with the focus on patient-centered and value-based healthcare. Future enhancements, including machine learning integration and outcome data, will refine its categorization process, enhancing clinical utility. Full article

Bing–Neel syndrome (BNS) is a rare condition that may occur in patients with Waldenstrom macroglobulinemia (WM) and is caused by lymphoplasmacytic infiltration into the central nervous system. BNS is an extramedullary manifestation of WM which may present with various neurological signs and symptoms that make the diagnosis difficult to achieve. We present a case of BNS in a 60-year-old patient diagnosed 6 years after recovering from Waldenstrom’s macroglobulinemia. We observed the patient for a secondary generalized focal motor seizure. Unenhanced brain CT revealed slight hyperdensity of left parietal subarachnoid spaces. The MRI of the brain and spinal cord showed leptomeningeal enhancement in both parietal lobes. The presence of monoclonal bands (light chain k and IgM) was found in cerebrospinal fluid, leading to the diagnosis of BNS. The patient started treatment with ibrutinib and remains clinically stable during a 1-year follow-up. However, the MRI showed the appearance of a new subcortical left parietal lesion. BNS is an extremely rare presentation of WM that should be recognized and considered early in the presence of unexplained neurological symptoms in patients with a history of WM, even if the patient appears to have recovered. Full article

Liver transplant patients are frail subjects due to lifelong therapy with immunosuppressants. In these patients, comorbidity and polytherapy increase the risk of adverse drug reactions. In this study, we report the development of hyponatremia, probably related to pantoprazole in a liver transplant patient. Sertraline dismission and treatment with sodium chloride did not improve clinical symptoms and laboratory levels. Pantoprazole dismission induced an improvement in clinical symptoms and the normalization of sodium levels. A five-month follow-up revealed the absence of clinical symptoms and normal serum sodium levels. Full article

Aim and background: Periapical lesions, which occur due to the infection and necrosis of dental pulp, are a significant dental pathology that poses risks to oral and systemic health. These lesions often require interventions such as root canal treatment or periapical surgery. Recent research has focused on the effectiveness of biocompatible materials, including mineral trioxide aggregate, bioceramics, and leukocyte-platelet-rich fibrin (L’PRF), in improving healing outcomes. This report presents the application of leukocyte-platelet-rich fibrin (L’PRF) derived from the patient’s autologous blood to enhance bone healing. Case description: A 61-year-old woman with well-controlled hypertension and good oral hygiene visited the dental clinic due to a painless swelling near her upper left central incisor. After examination, it was determined that she had a periapical granuloma. The patient underwent successful root canal retreatment and apical surgery, during which leukocyte-platelet-rich fibrin was applied. After 30 months, she experienced significant improvement with no symptoms and substantial bone regeneration. Conclusion: Clinical evidence and this case study indicate that leukocyte-platelet-rich fibrin (L’PRF) may enhance healing post periapical surgery. Further research, including more extensive and longer-term randomized trials, must confirm L’PRF’s effectiveness and refine treatment protocols. Clinical significance: L’PRF enhances bone healing post periapical surgery. Clinicians should consider integrating L’PRF in periapical surgeries, ensure diligent follow-up, and inform patients of its long-term advantages. Further randomized trials are needed to refine L’PRF clinical guidelines. Full article

Background: Resistant bacteria causing urinary tract infections (UTI) are becoming increasingly common worldwide. Patients suffering from such UTIs are often elderly, with complex medical backgrounds, and require prolonged hospital stays due to the frequent need for intravenous antibiotics. The alternative hospital-at-home (HAH) option for such patients should, therefore, be explored. Methods. We present our experience in the treatment of patients with extended-spectrum beta-lactamase (ESBL) infections treated through our HAH service. Results: Eleven such patients were included in our HAH service between February 2022 and December 2023 (median age: 79 years; 64% females; 57% had diabetes mellitus in their background). Of these patients, 27.2% had urinary instrumentations and 81.8% had a history of previous UTIs, of which 77.7% had resistant bacteria. The most common pathogen (7 out of 9 patients) was Escherichia coli. All eleven pathogens were resistant to ceftriaxone and ciprofloxacin. The mean length of hospitalization was 5 ± 2 days. Eight patients (72.7%) did not experience recurrent UTIs. Only two patients (18.2%) experienced acute kidney injury, which resolved during their HAH stay. Two patients died during a 30-day follow up from causes unrelated to their UTI. Conclusions: Treatment of patients presenting with urinary tract infections with resistant ESBL pathogens in the setting of a telemedicine-assisted, hospital-at-home setting is both effective and safe. Full article

Background: Lung cancer, particularly small-cell lung carcinoma (SCLC), often presents with respiratory symptoms. However, atypical manifestations including jaundice and abdominal pain can obscure the diagnosis, leading to challenges in early detection and treatment. Case Presentation: A 49-year-old male, with a history of smoking and diagnosed with Chronic Obstructive Pulmonary Disease (COPD), presented to the emergency department with a 3-day history of jaundice and a 3-week duration of mild abdominal pain. Initial investigations, including blood tests, showed hyperbilirubinemia and elevated lipase and amylase levels. An abdominal ultrasound was performed and revealed a hypoechoic, inhomogeneous mass in the head of the pancreas and multiple liver masses, suggesting a cephalo-pancreatic formation with liver metastasis. Further diagnostic procedures, including upper endoscopy and ERCP, followed by a TAP CT scan, identified a large mediastinal-pulmonary mass with invasion into major vessels and extensive metastasis. The immunohistochemical analysis of a duodenal ulcer biopsy confirmed a diagnosis of duodenal metastasis from a small-cell neuroendocrine lung carcinoma. Conclusion: Our case highlights that while rare, the possibility of metastatic spread should be included in the differential diagnosis when obstructive jaundice occurs in the context of high-risk factors for lung cancer. Full article

Obstructive sleep apnea (OSA) may be linked to various factors that narrow the upper airways, such as obesity, adenotonsillar hypertrophy and craniofacial abnormalities. Hypothyroidism has also been described as a risk factor for OSA. However, the implication of goiter independently of thyroid function in the occurrence of OSA remains unclear. We present the case of a 66-year-old woman with a large compressive multinodular goiter for whom total thyroidectomy was indicated. During the preoperative assessment, the patient had a body mass index (BMI) of 37.8 kg/m² with symptoms of OSA. Respiratory polygraphy confirmed the diagnosis of severe OSA (apnea–hypopnea index (AHI) = 32), and treatment with continuous positive airway pressure (CPAP) was initiated prior to thyroid surgery. Surprisingly, after total thyroidectomy, OSA symptoms disappeared, and the patient abandoned CPAP therapy. Subsequent respiratory polygraphy after thyroidectomy showed a decrease in AHI to a normal value (AHI < 5). Interestingly, there was no change in BMI or other factors explaining the resolution of OSA, except for thyroidectomy. This case report suggests that goiter can be considered a risk factor for OSA. However, prospective studies are needed to accurately assess the effects of goiter on the occurrence of OSA according to its dimensions and local extension. Full article

Atypical teratoid/rhabdoid tumors (AT/RT) are highly aggressive tumors of the central nervous system (CNS), accounting for 1–3% of all pediatric CNS tumors. In general, AT/RTs are associated with biallelic inactivation of SMARCB1, resulting in the loss of expression of the integrase interactor 1 (INI1) protein. In this report, we describe the clinical course of an infant patient who presented with fatigue, postprandial vomiting, and disability of left side movement. Histological examination revealed classical features indicative of rhabdoid tumors, yet an atypical immunohistochemical profile with preserved INI1 expression was observed. Molecular diagnostics further elucidated the presence of a heterozygous frameshift variant, SMARCA4 c.2693del, p.(Asn898Thrfs*12), underscoring the distinctive genetic foundations of the case. Surgical resection of the tumor was administered with subsequent chemotherapy to the patient, but the condition worsened dynamically, and a decision was made to give the patient palliative therapy. We report on a patient with AT/RT caused by a rare mutation of the SMARCA4 gene and an aggressive course of disease to provide more information and characteristics of these tumors. Full article

Facial nerve palsy is most commonly idiopathic, but it can also result from infections, inflammatory and cerebrovascular disorders, tumors, and trauma. We report the case of a 68-year-old patient who developed iatrogenic facial nerve palsy subsequent to dermatological cryosurgery on the right cheek. Remarkably, a full recovery occurred within 8 weeks. Drawing upon the promising outcome of this case and the existing literature on neuropathies linked with cold application in sports injuries, we propose neurapraxia as the probable pathomechanism underlying cryotherapy-induced nerve damage. Full article

Background and objective: Lung cancer is increasingly common, and accurate diagnosis is important for personalized treatment. Ultrasound-guided percutaneous fine-needle aspiration (FNA) is a useful method to obtain a specimen for a histological diagnosis of peripheral lung lesions. The aim of this study is to evaluate the diagnostic accuracy and complication rate of the procedure performed by pulmonologists. The result is compared with that of ultrasound-guided core needle biopsy performed by radiologists. Methods: We retrospectively evaluated the diagnostic accuracy and complication rates of pulmonologist-performed ultrasound-guided FNAs of lung lesions in the period of 1 August 2019 to 30 June 2021 (pulmonologist group) and radiologist-performed ultrasound-guided core needle biopsies (CNBs) of lung lesions in the period of 1 January 2010 to 31 December 2014 (radiologist group). A logistic regression analysis was used to identify independent influence factors associated with diagnostic accuracy in the pulmonologist group and in the combination of both groups. Results: In a 23-month period, pulmonologists in a tertiary center performed 113 episodes of ultrasound-guided fine-needle aspiration for peripheral lung lesions. The diagnostic accuracy and complication rates were 80.4% and 5.3%, respectively, compared to 86.8% and 7.4% in a historical cohort consisting of 68 episodes of ultrasound-guided core needle biopsies performed by radiologists in the same hospital. Lung lesions located in the upper lobe were predictive of successful diagnoses. Conclusions: An ultrasound-guided fine-needle aspiration by a pulmonologist is an easily accessible and reliable method to obtain specimens for histological diagnoses. Full article

A rise in fungal infections has been observed worldwide among patients with extended hospital stays because of the severe infection caused by the new coronavirus pandemic. A 62-year-old female patient was admitted with a severe form of Coronavirus disease 2019 (COVID-19) and spent four weeks in the intensive care unit (ICU) requiring mechanical ventilation support before being moved to a tertiary hospital for further testing. Aspergillus fumigatus filamentous fungus, Candida spp., and positive bacteriology for multidrug-resistant Klebsiella pneumoniae and Proteus mirabilis were identified by bronchial aspirate cultures. The patient’s progress was gradually encouraging while receiving oral antifungal and broad-spectrum antibiotic therapy along with respiratory physical therapy; but ultimately, thoracic surgery was necessary. Long-lasting tissue damage and severe, persistent inflammatory syndrome were the two main pathophysiological mechanisms that led to significant outcomes regarding lung lesions that were rapidly colonized by fungi and resistant flora, cardiac damage with sinus tachycardia at the slightest effort, and chronic inflammatory syndrome, which was characterized by marked asthenia, myalgias, and exercise intolerance. Full article

The amnion rupture sequence is a rare condition occurring early in pregnancy, resulting in complex fetal anomalies by disrupting normal embryonic development. The prevalence of amnion rupture sequence is reported to be 1.16 in 10,000 live births. This article explores the uncommon case of early amnion rupture leading to fetal encephalocele, suspected in the first trimester. Despite the variable and intricate nature of anomalies associated with this condition, cranio-facial and abdominal defects are frequently observed. Genetic testing was conducted, with normal results supporting our theory of amnion rupture. The patient decided to terminate the pregnancy, and the anatomopathological results confirmed the findings. This article discusses the diagnostic challenges, emphasizing the importance of timely identification through advanced imaging techniques. Full article

West Nile Virus (WNV) is an arbovirus endemic to many countries and has caused over 56,000 cases, with 2776 deaths in the U.S. from 1999 to 2022. WNV occurs most often in the fall, typically affecting elderly populations in states like Nebraska and Arizona. Currently, supportive care is the only management for WNV. Our case is a female patient in her mid-70s in an intermountain state who presented in the fall with WNV meningoencephalitis and experienced a delay in care due to the unique clinical presentation. This demonstrates the importance of early inclusion of WNV in the differential for altered mental status, especially with WNV risk factors, and expedition of supportive care. Doing so could potentially reduce antibiotic duration and hospital costs. Full article

This case report provides us with insight on how blood glycemia affects refraction, vergence and accommodation in a single diabetic patient. A 21-year-old type I diabetic woman was the subject studied in this report. Refraction, near and far fusional vergence ranges, near point of convergence, monocular accommodative facility, amplitude of accommodation, lag of accommodation, and near and far phoria, were measured before and after controlled caloric intake and insulin injection. Measurements were taken a total of 10 times, once a week for 10 consecutive weeks. Blood glycemia levels were provided by a measuring device that was attached to the patient’s body at all times. Statistically significant differences were found in the glucose levels before and after lunch, p = 0.041, sphere refraction of the right eye, p = 0.016, but not in the left eye, p = 0.051. Accommodative facility in both right and left eyes, p = 0.019, p = 0.028, respectively, and amplitude of accommodation, p = 0.016, p = 0.019, right and left eyes, respectively were statistically different before and after insulin injection. In a 21-year-old subject with type I diabetes, a diminution in blood glucose levels influences refractive myopic state, and is associated with a decrease in accommodative facility and in amplitude of accommodation. Full article