Reports

11 pages, 2960 KiB

Open AccessCase Report

Diffuse Large B-Cell Lymphoma with t(1;22)(q21;q11.2) and t(6;18)(p25;q21): A Case Report

by Toshiaki Nagaie, Yasushi Kubota, Ichiro Hanamura, Sivasundaram Karnan, Rika Tomimasu, Michiaki Akashi, Shiho Tsuruda, Akiyoshi Takami, Shinya Kimura and Masaharu Miyahara

Reports 2025, 8(1), 5; https://doi.org/10.3390/reports8010005 - 5 Jan 2025

Abstract

Background and Clinical Significance: This should include a brief introduction about the general medical condition or relevant symptoms that will be discussed in the case report and should succinctly summarize the critical essential clinical information of the case report and emphasize its [...] Read more.

Background and Clinical Significance: This should include a brief introduction about the general medical condition or relevant symptoms that will be discussed in the case report and should succinctly summarize the critical essential clinical information of the case report and emphasize its new and vital aspects. Case Presentation: A 72-year-old man diagnosed with DLBCL involving chromosomal translocations t(1;22)(q21;q11.2) and t(6;18)(p25;q21) showed primary refractory disease after the fourth cycle of R-CHOP. The patient ultimately experienced cardiac involvement due to the lymphoma and received salvage chemotherapy. He passed away about 15 months after the diagnosis of DLBCL. We conducted fluorescence in situ hybridization (FISH) for further analysis of the chromosomal translocations. The breakpoint of chromosome 1q21 was located at a distance of around 151 Mb from the telomeric end of chromosome 1p. The breakpoint in chromosome 22q11 contains the immunoglobulin lambda locus. Furthermore, the breakpoint of chromosome 6p was in the telomeric region of chromosome 6p21. The breakpoint of chromosome 18q21 contains BCL2. Conclusions: This case report presents the first documented co-occurrence of chromosomal translocations t(1;22)(q21;q11.2) and t(6;18)(p25;q21) in a patient with DLBCL. These chromosomal translocations may indicate a worse clinical outcome. Full article

(This article belongs to the Section Haematology)

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7 pages, 450 KiB

Open AccessCase Report

A Novel Mutation Related to Aceruloplasminemia with Mild Clinical Findings: A Case Report

by Alexandros Giannakis, Tsamis Konstantinos, Maria Argyropoulou, Georgia Xiromerisiou and Spiridon Konitsiotis

Reports 2025, 8(1), 4; https://doi.org/10.3390/reports8010004 - 31 Dec 2024

Abstract

Background and Clinical Significance: Aceruloplasminemia (ACP), a member of the neurodegeneration with brain iron accumulation (NBIA) spectrum of disorders, is a rare disorder caused by mutations in the ceruloplasmin (CP) gene. Iron accumulation in various organs, including the brain, liver, eyes, and [...] Read more.

Background and Clinical Significance: Aceruloplasminemia (ACP), a member of the neurodegeneration with brain iron accumulation (NBIA) spectrum of disorders, is a rare disorder caused by mutations in the ceruloplasmin (CP) gene. Iron accumulation in various organs, including the brain, liver, eyes, and heart, can lead to a broad clinical spectrum. Here, we report the first case of ACP in Greece. Case Presentation: Our patient was a 53-year-old male who was referred to our movement disorders center for a 6-month history of mild, unspecific, episodic dizziness and postural instability, and attention and memory deficits. Brain MRI revealed significant iron accumulation in multiple brain regions, including the dentate nuclei, cerebellar cortex, basal ganglia, thalamus, brainstem nuclei, and hypothalamus. These findings were particularly evident in susceptibility-weighted images. Fundoscopy revealed a normal retina, optic nerve, and macula. Whole-exome sequencing revealed a novel homozygous frameshift mutation in the CP gene [NM_000096.3:p.Thr3232fs (c.9695delC)]. This mutation has not been previously reported and is predicted to result in premature protein termination, supporting its pathogenic nature. Laboratory tests showed no anemia but revealed significantly elevated serum ferritin and low serum iron. Subsequent testing revealed extremely low serum CP and low serum copper. Despite less involvement of the myocardium, our patient succumbed to cardiac arrest. Conclusions: ACP should be considered in cases with minor neurological signs and symptoms. Brain MRI plays a significant role in early diagnosis. Close cardiac monitoring is also important. Full article

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10 pages, 9521 KiB

Open AccessCase Report

Intraoral Immature Malignant Teratoma with No Evidence of Other Sites of Involvement in a 6-Year-Old Patient: A Case Report

by Vasileios Zisis, Christina Charisi, Konstantinos Poulopoulos, Petros Papadopoulos and Athanasios Poulopoulos

Reports 2025, 8(1), 3; https://doi.org/10.3390/reports8010003 - 27 Dec 2024

Abstract

Background and Clinical Significance: Head and neck teratomas are embryonal tumors that develop when totipotent germ cells escape the developmental control of primary organizers and form a more-or-less organoid mass in which tissues from all three germ layers (ectoderm, endoderm, and mesoderm) [...] Read more.

Background and Clinical Significance: Head and neck teratomas are embryonal tumors that develop when totipotent germ cells escape the developmental control of primary organizers and form a more-or-less organoid mass in which tissues from all three germ layers (ectoderm, endoderm, and mesoderm) can be identified. Mature teratomas may either transit into germ cell or non-germ cell malignancies or remain histologically mature with the possibility of growing, thus inducing certain complications when reaching a large size. This article aims to investigate a very rare case of a 6-year-old child who exhibited a recurrent intraoral mass with multiple conflicting biopsies. Case Presentation: A 6-year-old male patient was referred to the postgraduate clinic of the Department of Oral Medicine/Pathology, Dental School, Faculty of Health Sciences, Aristotle University of Thessaloniki, Greece, because his pediatric dentist noticed an exophytic, intraoral mass, distal to tooth #75 during a routine checkup. The first histopathological examination showed a gingival tumor, classified as a small round blue cell tumor, with greater similarity to adamantinoma-like Ewing sarcoma (ALES) and less to synovial sarcoma. The second pathologist examined the same tissue specimen and suggested the extremely rare presence of an immature malignant teratoma. Following chemotherapy, the rest of the teratoma with the adjacent tooth #75 was removed, and the histopathological examination showed a mature teratoma. Conclusions: This case illustrates the crucial role of the dentist, and in this case of the pediatric dentist, to promptly diagnose the underlying disease. Genetic screening may assist in detecting high-risk populations. In such complex histopathological cases, the importance of cooperating with experienced oral and maxillofacial pathologists is highlighted. We describe a rare case of intraoral malignant teratoma, and an extended literature review revealed that our case is the first ever reported. Full article

(This article belongs to the Section Oncology)

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10 pages, 1569 KiB

Open AccessCase Report

Cardiomyopathy in Non-Ambulatory Patients with Duchenne Muscular Dystrophy: Two Case Reports with Varying Outcomes, Considering Novel Treatments

by Marcello Marcì, Paola Vaccaro, Vincenzo Polizzi and Grazia Crescimanno

Reports 2025, 8(1), 2; https://doi.org/10.3390/reports8010002 - 27 Dec 2024

Abstract

Background and Clinical Significance: Cardiomyopathy is a significant cause of mortality in patients with Duchenne muscular dystrophy (DMD). Key prognostic factors include the age of onset of cardiomyopathy, low body mass index (BMI), and poor respiratory function. Detection of cardiac abnormalities can be [...] Read more.

Background and Clinical Significance: Cardiomyopathy is a significant cause of mortality in patients with Duchenne muscular dystrophy (DMD). Key prognostic factors include the age of onset of cardiomyopathy, low body mass index (BMI), and poor respiratory function. Detection of cardiac abnormalities can be challenging, which complicates timely diagnosis and treatment. Common treatments for heart failure include ACE inhibitors, beta-blockers, and mineralocorticoids. However, their effectiveness can vary, and the progression of cardiomyopathy may differ from one patient to another. Ongoing research aims to identify better therapeutic strategies and biomarkers for early intervention, ultimately improving the quality of life for patients affected by cardiomyopathy. New medications for heart failure, such as sodium/glucose co-transporter 2 inhibitors (SGLT2i) and valsartan/sacubitril (V/S), have been proposed, but their safety and efficacy in DMD patients remain unknown. Case Presentation: We present two cases that illustrate the histories of two patients who experienced different outcomes. The management of the first patient was complicated by several factors, including an early onset of cardiomyopathy, intolerance to ACE inhibitors, and untreated scoliosis, which hindered the implantation of a cardioverter defibrillator (ICD). Unfortunately, he only benefited from dapagliflozin in the later stages of his cardiomyopathy. Neurological complications further exacerbated the advanced state of his disease. In contrast, the second patient adhered to all recommended therapies, including innovative medications, and he currently has compensated heart failure. Conclusions: We concluded that several factors, beyond genetic ones, may have influenced their prognosis, including updated guidelines for cardiomyopathy treatment and the utilization of innovative medications. Full article

(This article belongs to the Section Cardiology/Cardiovascular Medicine)

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14 pages, 4271 KiB

Open AccessCase Report

Extra-Appendiceal Neuroendocrine Expressing Goblet Cell Adenocarcinoma of the Cecum—A Case Report and Brief Review of the Literature

by Alexandra Dinu, Mariana Aşchie, Gabriela Isabela Bălţătescu, Manuela Enciu and Ionuţ Burlacu

Reports 2025, 8(1), 1; https://doi.org/10.3390/reports8010001 - 26 Dec 2024

Abstract

Background and Clinical Significance: Neuroendocrine expressing goblet cell adenocarcinomas (GCAs) are uncommon clinically aggressive tumours of the digestive system, originating almost exclusively in the ileocecal appendix. GCA’s singularity comes from its amphicrine nature, expressing both neuroendocrine and exocrine characteristics. The case report’s [...] Read more.

Background and Clinical Significance: Neuroendocrine expressing goblet cell adenocarcinomas (GCAs) are uncommon clinically aggressive tumours of the digestive system, originating almost exclusively in the ileocecal appendix. GCA’s singularity comes from its amphicrine nature, expressing both neuroendocrine and exocrine characteristics. The case report’s objective is to raise awareness of this neoplasia’s possible extra-appendiceal localisation by showcasing a GCA involving the cecum with no detectable appendiceal tumour. Case Presentation: The authors present a case of GCA with neuroendocrine expression in an 82-year-old male patient with severe anaemia and comorbidities who underwent a right colectomy and had no histopathological evidence of appendiceal tumour involvement. Immunohistochemical testing was performed using synaptophysin, chromogranin A, neuronal specific enolase, CD56, CDX-2, CK20, CEA, MUC2 and Ki67, thus establishing the final diagnosis of high-grade extra-appendiceal goblet-cell adenocarcinoma of the cecum, G3. The patient died on postoperative day 26 due to pneumonia and acute renal failure in a chronic renal disease context. Conclusions: Extremely few cases of extra-appendiceal GCA have been reported. Appendiceal evaluation with the exclusion of this possible origin should be mandatory in such cases for a correct classification. These tumours do not benefit from any official management protocols concerning clinical evaluation, and their treatment is commonly based on the tumour’s stage, as in classical adenocarcinoma. Full article

(This article belongs to the Section Oncology)

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6 pages, 679 KiB

Open AccessCase Report

Influenza Virus-Associated Acute Necrotizing Encephalopathy in Two Young Children: Case Report

by Prisca Largo, Olivia C. Arnone, Francesco Sacco, Gaetano Cantalupo and Paolo Biban

Reports 2024, 7(4), 118; https://doi.org/10.3390/reports7040118 - 22 Dec 2024

Abstract

Background and Clinical Significance: Acute necrotizing encephalopathy (ANE) represents a severe complication, mainly described in children, of influenza virus infection. We report the cases of two young girls with ANE associated with influenza virus infection who were diagnosed by MRI cerebral scan. [...] Read more.

Background and Clinical Significance: Acute necrotizing encephalopathy (ANE) represents a severe complication, mainly described in children, of influenza virus infection. We report the cases of two young girls with ANE associated with influenza virus infection who were diagnosed by MRI cerebral scan. Case Presentation: A 7-year-old girl with a history of a previous episode of ANE presented with a worsening drowsy state and seizures. In the second case, an otherwise healthy 5-year-old girl presented with fever, seizures, and marked neurological deterioration. In both cases, nasopharyngeal swab testing was positive for influenza virus A, while cerebral MRI indicated ANE. Despite aggressive treatment with high-dose corticosteroids and a five-day course ofimmunoglobulins, the ultimate prognosis was poor in both patients. ANE is a serious complication of viral infections in children, with a high mortality rate and a broad spectrum of neurological sequelae. To date, the pathophysiology and management of influenza virus-induced ANE remain uncertain. Although ANE is usually sporadic, familial and recurrent cases have been reported, and anRAN-binding protein (RANBP2) mutation has occasionally been associated with its occurrence.Conclusions: Rapid recognition of neurological symptoms and suspicion of a viral trigger, especially in influenza-like illnesses, are both essential for the timely administration of effective therapy. Further research is needed to clarify the pathophysiology of ANE and establish the best therapeutic strategies to fight such a deadly disease. Full article

(This article belongs to the Section Paediatrics)

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9 pages, 4510 KiB

Open AccessCase Report

A Case Report on a Fractured Ceramic Bearing Surface Following Total Hip Replacement and a Short Review on the Mechanisms of Liner Fracture

by Calin Stefan, Cristian Moldovan, Liviu Marsavina, Mihai Hurmuz and Iuliana Stefan

Reports 2024, 7(4), 117; https://doi.org/10.3390/reports7040117 - 19 Dec 2024

Abstract

Background and Clinical Significance: Since their first introduction in the early 1950s, hip prostheses implants are becoming increasingly reliable; nevertheless, failures can still happen. The focus of this paper is to present a case study on a catastrophic fractured hip prosthesis liner that [...] Read more.

Background and Clinical Significance: Since their first introduction in the early 1950s, hip prostheses implants are becoming increasingly reliable; nevertheless, failures can still happen. The focus of this paper is to present a case study on a catastrophic fractured hip prosthesis liner that consequently led to revision surgery and the replacement of the destroyed implant. Case Presentation: The patient was diagnosed with Hodgkin’s lymphoma and had Total Hip Arthroplasty on both legs, but only the right side needed revision due to a fracture in the liner. The patient’s symptoms were a squeaking sound, functional impairment, and pain, and an X-ray showed the extent of the damage. We also present a short review on the mechanisms of liner fracture, focusing strictly on the mechanical aspects of failure. Conclusions: Hip prosthesis implants are not immune to failure. This case highlights the importance of an interdisciplinary approach and emphasizes the need for vigilant postoperative monitoring and the development of predictive tools. Full article

(This article belongs to the Section Orthopaedics/Rehabilitation/Physical Therapy)

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10 pages, 21389 KiB

Open AccessCase Report

A Triple Threat: A Case Report Detailing Surgical Management for Hypertrophic Cardiomyopathy, Flail Mitral Valve and Severe Pulmonary Hypertension

by Cass G. G. Sunga, Kai-Chun Yang, Shakirat Oyetunji, Erik R. Swenson and Kavita Khaira

Reports 2024, 7(4), 116; https://doi.org/10.3390/reports7040116 - 17 Dec 2024

Abstract

The combination of hypertrophic cardiomyopathy with outflow tract obstruction, severe pre-capillary and post-capillary pulmonary hypertension, and severe primary mitral regurgitation is rare and presents distinct management challenges. Background and Clinical Significance: Pulmonary hypertension is an independent predictor of all-cause mortality in patients [...] Read more.

The combination of hypertrophic cardiomyopathy with outflow tract obstruction, severe pre-capillary and post-capillary pulmonary hypertension, and severe primary mitral regurgitation is rare and presents distinct management challenges. Background and Clinical Significance: Pulmonary hypertension is an independent predictor of all-cause mortality in patients with hypertrophic cardiomyopathy managed medically and often precludes patients from undergoing cardiopulmonary bypass due to increased surgical morbidity and mortality. In studies specifically evaluating surgical myectomy, however, survival is favorable in patients with moderate-to-severe pulmonary hypertension. Case Presentation: We present a case of a 74-year-old male with six months of dyspnea with minimal exertion. A diagnostic work-up with transthoracic echocardiogram showed asymmetric left ventricular hypertrophy, left ventricular outflow tract obstruction with a peak gradient of 200 mmHg, right ventricular systolic pressure of 99 mmHg, systolic anterior motion of the mitral valve and flail anterior mitral leaflet. The patient was evaluated by a multi-disciplinary team and underwent extended septal myectomy and mitral valve repair with significant improvement in functional capacity post-operatively. Conclusions: While pulmonary hypertension increases the risk of morbidity and mortality during cardiopulmonary bypass, moderate-to-severe pulmonary hypertension in hypertrophic cardiomyopathy with outflow tract obstruction is a unique indication for septal reduction therapy that may not be associated with higher surgical mortality. Full article

(This article belongs to the Section Cardiology/Cardiovascular Medicine)

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6 pages, 1660 KiB

Open AccessCase Report

Difficult Diagnosis of Spontaneous Intracranial Hypotension with Nausea and Lower Abdominal Pain as Main Complaints: A Case Report

by Misaki Yokoi, Tsuneaki Kenzaka, Mari Asano, Ryu Sugimoto and Hogara Nishisaki

Reports 2024, 7(4), 115; https://doi.org/10.3390/reports7040115 - 16 Dec 2024

Abstract

Background and Clinical Significance: Symptoms of spontaneous intracranial hypotension include orthostatic headaches due to decreased cerebrospinal fluid (CSF) levels. Here, we present a 24-year-old female admitted to an obstetrics and gynecology department with primary complaints of lower abdominal pain and dysmenorrhea with [...] Read more.

Background and Clinical Significance: Symptoms of spontaneous intracranial hypotension include orthostatic headaches due to decreased cerebrospinal fluid (CSF) levels. Here, we present a 24-year-old female admitted to an obstetrics and gynecology department with primary complaints of lower abdominal pain and dysmenorrhea with subsequent diagnosis of spontaneous intracranial hypotension (SIH). Case Presentation: The patient had experienced nausea and lower abdominal pain independent of her menstrual cycle 5 days before admission, for which she visited the emergency department 3 days later. On admission, her symptoms were temporarily relieved by administering analgesics; thus, she was discharged. However, later, the symptoms worsened. Consequently, she returned to the emergency department for further evaluation, including blood tests, imaging, and endoscopy, which revealed no nausea- or abdominal pain-related organic abnormalities. On day 10, she developed a headache, aggravated by lying in the supine position and improved by sitting. Additional history revealed a diagnosis of SIH owing to the worsening abdominal pain in the supine position. An ¹¹¹In CSF cavity scintigram showed no spinal fluid leakage; early intrabladder radioisotope (RI) accumulation was observed, and the residual 24 h CSF cavity RI was >30%. At a referral specialist hospital, an epidural saline infusion test was performed, which improved her headache and lower abdominal pain. Blood patch therapy improved her lower abdominal pain, headache, and dysmenorrhea. Conclusions: The final diagnosis was SIH, with symptoms attributed to CSF depletion. The patient also experienced rare paradoxical postural-related headaches and lower abdominal pain, aggravated by lying in the supine position, contributing to the final diagnosis. Full article

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5 pages, 2695 KiB

Open AccessCase Report

The Winding Road to Dyspnea: A Case Report of an Unusual Presentation of Anomalous Left Coronary Artery from the Pulmonary Artery

by Allen Fooks, Ranvir Bhatia, Sanjay Sivalokanathan and Neel P Chokshi

Reports 2024, 7(4), 114; https://doi.org/10.3390/reports7040114 - 12 Dec 2024

Abstract

Background and Clinical Significance: Anomalous left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital anomaly. Such patients are unlikely to survive adulthood without a major surgical correction. Case Presentation: We report a 30-year-old female with a lifelong murmur who presented [...] Read more.

Background and Clinical Significance: Anomalous left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital anomaly. Such patients are unlikely to survive adulthood without a major surgical correction. Case Presentation: We report a 30-year-old female with a lifelong murmur who presented to the sports cardiology clinic with progressively reduced exercise tolerance. She was eventually diagnosed with ALCAPA and underwent successful Takeuchi repair. Conclusions: Surgical correction is strongly recommended upon diagnosis to mitigate the associated risks and improve the prognosis for affected individuals. Full article

(This article belongs to the Section Cardiology/Cardiovascular Medicine)

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7 pages, 1469 KiB

Open AccessCase Report

Formwork Technique with Mesh in Elevations of Sinus Floors with Large Perforations of the Schneider Membrane: A Case Pilot

by Erick Rafael Fernández Castellano, Cosimo Galletti and Javier Flores Fraile

Reports 2024, 7(4), 113; https://doi.org/10.3390/reports7040113 - 12 Dec 2024

Abstract

Background and Clinical Significance: Currently, maxillary sinus floor elevation is one of the most common procedures used in implantology practice. Despite its predictability, the technique is not without complications, such as graft material dispersion in the sinus cavity, wound dehiscence, hematoma, fenestrations, [...] Read more.

Background and Clinical Significance: Currently, maxillary sinus floor elevation is one of the most common procedures used in implantology practice. Despite its predictability, the technique is not without complications, such as graft material dispersion in the sinus cavity, wound dehiscence, hematoma, fenestrations, oroantral fistulas, epistaxis, acute sinusitis, and Schneider membrane perforations. The treatment of the latter can be complex, and depending on its extent, surgery deferral may be necessary, leading to increased patient morbidity. Case Presentation: A patient with apical surgery underwent sinus floor elevation with a significant Schneider membrane perforation using a new approach involving titanium mesh, resorbable membrane, and xenograft. This allowed the continuation of surgery, reducing the number of interventions and patient morbidity. Conclusions: Despite limitations due to a small sample size, this case report demonstrates that addressing large Schneider membrane perforations and placing implants is effective and predictable using the technology and approach of mesh formwork with titanium. Full article

(This article belongs to the Special Issue Clinical Research on Oral Diseases)

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9 pages, 452 KiB

Open AccessArticle

Clinical and Epidemiological Characteristics of Chikungunya and Dengue Infections in Provincial Hospitals of Davao de Oro, Philippines

by Nestor Arce, Jr., Kobporn Boonnak, Lee Thunder Bernasor, Christian Joy Salas, Anastasia Putri, Pyae Linn Aung, Hisham Ahmed Imad, Wirongrong Chierakul, Viravarn Luvira, Benjaluck Phonrat, Weerapong Phumratanaprapin and Prakaykaew Charunwatthana

Reports 2024, 7(4), 112; https://doi.org/10.3390/reports7040112 - 11 Dec 2024

Abstract

Background: Mosquito-borne diseases such as dengue and chikungunya are endemic to tropical regions and are common causes of acute febrile illness in both adults and children. The Philippines, home to more than one hundred million residents and visited by several million tourists each [...] Read more.

Background: Mosquito-borne diseases such as dengue and chikungunya are endemic to tropical regions and are common causes of acute febrile illness in both adults and children. The Philippines, home to more than one hundred million residents and visited by several million tourists each year, is one such region where the risk of these diseases is endemic. Objective and Methods: To better understand the detailed situation, we estimated the proportion of these diseases in the community by conducting a prospective observational study in four provincial hospitals of Davao de Oro, Philippines, from February 2019 to February 2020. Sera from 382 study participants were used for laboratory confirmation of dengue or chikungunya by serology. Results: Dengue was diagnosed in 57.1%, chikungunya in 7.07%, and coinfection with both dengue and chikungunya in 7.3%, while the etiology was undetermined in 35.9% of the study participants. Common clinical symptoms included fever, headache, and a rash, which were overlapping symptoms that were clinically indistinguishable at the presentation to the hospital, necessitating laboratory diagnostics. Conclusions: The identification of the presence of chikungunya in Davao de Oro calls for increased awareness, improved diagnostics, and integrated disease control measures to manage outbreaks that can occur in dengue-endemic regions. Full article

(This article belongs to the Section Epidemiology/Public Health)

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8 pages, 4947 KiB

Open AccessCase Report

Subcapital Femoral Neck Fracture in a Professionally Active Patient Undergoing Palliative Treatment for Endothelial Cell-Derived Epithelioid Haemangioendothelioma (EHE)

by Paulina Kluszczyk, Aleksandra Tobiasz, Dawid Szumilas, Mateusz Winder, Jacek Pająk, Robert Kwiatkowski and Jerzy Chudek

Reports 2024, 7(4), 111; https://doi.org/10.3390/reports7040111 - 9 Dec 2024

Abstract

Background and Clinical Significance: Femoral neck fracture frequently occurs in the elderly population but may also present in patients diagnosed with primary cancer or bone metastases. A pathological, oligosymptomatic fracture associated with epithelioid haemangioendothelioma (EHE), a rare endothelial cell-derived sarcoma, is uncommon. Case [...] Read more.

Background and Clinical Significance: Femoral neck fracture frequently occurs in the elderly population but may also present in patients diagnosed with primary cancer or bone metastases. A pathological, oligosymptomatic fracture associated with epithelioid haemangioendothelioma (EHE), a rare endothelial cell-derived sarcoma, is uncommon. Case Presentation: A 44-year-old patient underwent biopsy procedures three times (2010, 2012, 2013) for a focal lesion of the left ischium, none confirming its malignant nature. The last biopsy revealed a neoplastic tissue with features of discrete dysplasia. The lesion did not undergo medical follow-up for seven consecutive years. In August 2020, the patient presented with right lower limb pain. A CT scan, PET/CT scan, and biopsy confirmed EHE with spindle/sarcomatous features. In November 2020, chemotherapy (5xADIC) started (PET/CT confirmed a partial response). After its completion in July 2021, bone progression occurred and sirolimus-based therapy was started. After 3 months, a small liver metastasis was visualized on PET/CT, which did not result in the termination of treatment. In December 2021, pamidronate-based antiresorptive therapy was started. Liver metastasis remained stable in follow-up CT scans. Due to pelvic and spinal lesions, the patient was assisted by elbow crutches and underwent radiotherapy, remaining professionally active. The patient did not report any trauma, but in August 2023, a subsequent CT scan revealed a subcapital fracture of the left femoral neck in the fusion phase. Due to pelvic changes and the stable nature of the fracture, surgical treatment was abandoned. Conclusions: An oligosymptomatic femoral neck fracture, not requiring medical intervention is considered a rare complication of bone cancer. Full article

(This article belongs to the Section Oncology)

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6 pages, 1349 KiB

Open AccessCase Report

Usefulness of Point-Of-Care Ultrasound in Diagnosing and Managing Pediatric Multidistrict Chylous Effusion

by Tommaso Bellini, Marta Bustaffa, Marco Crocco, Federica Casabona, Giorgia Iovinella, Federica Malerba, Matteo D’Alessandro and Emanuela Piccotti

Reports 2024, 7(4), 110; https://doi.org/10.3390/reports7040110 - 5 Dec 2024

Abstract

Background and Clinical Significance: The use of point-of-care ultrasound (POCUS) in emergency departments is rapidly growing due to its ability to provide immediate and accurate diagnostic information at the bedside. Furthermore, it can provide precise and rapid information on the location of [...] Read more.

Background and Clinical Significance: The use of point-of-care ultrasound (POCUS) in emergency departments is rapidly growing due to its ability to provide immediate and accurate diagnostic information at the bedside. Furthermore, it can provide precise and rapid information on the location of multidistrict effusions in patients with suspected lymphatic decompensation. Case Presentation: This unique clinical case report describes a patient who presented with massive, multidistrict chylous effusion secondary to acute lymphatic insufficiency, a rare and challenging condition. Due to a recent diagnosis of celiac disease, the patient had started a gluten-free diet ten days before the onset of symptoms, suggesting a possible causal link. Through comprehensive thoracoabdominal POCUS, the diagnosis was made promptly, avoiding delays in treatment and enabling timely decision-making. Conclusions: This case emphasizes the critical role of POCUS not only in expediting diagnosis but also in guiding invasive procedures, such as thoracentesis, by visualizing fluid accumulation and anatomical structures in real-time. Moreover, POCUS provides an invaluable tool for ongoing clinical ultrasound follow-up, facilitating continuous monitoring without exposing the patient to the risks of radiation, thus optimizing patient care and resource utilization. Full article

(This article belongs to the Section Paediatrics)

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14 pages, 9066 KiB

Open AccessCase Report

Diode Laser with Scaling and Root Planing for Treating Generalized Periodontitis: Case Report and Analysis of the Relevant Literature

by Teodora Tene, Anca Maria Fratila, Vasile Calin Arcas, Mihai Sava and Corina Roman-Filip

Reports 2024, 7(4), 109; https://doi.org/10.3390/reports7040109 - 5 Dec 2024

Abstract

This study evaluates the effectiveness of diode laser therapy, specifically the Biolase Epic X at 940 nm and 0.8–1 W, in conjunction with scaling and root planing (SRP) for treating generalized periodontitis. Background and Clinical Significance: A 32-year-old man underwent full-mouth disinfection [...] Read more.

This study evaluates the effectiveness of diode laser therapy, specifically the Biolase Epic X at 940 nm and 0.8–1 W, in conjunction with scaling and root planing (SRP) for treating generalized periodontitis. Background and Clinical Significance: A 32-year-old man underwent full-mouth disinfection and laser-assisted periodontal therapy, with follow-up at six months. Case Presentation: Significant improvements were observed, including reductions in bleeding on probing from 20% to 5%, in mean probing depth from 2.3 mm to 2.1 mm, and in clinical attachment level from −2.8 mm to −2.2 mm. Radiographic analysis showed a stabilization of bone loss and an 80% improvement in pathological sites. Conclusions: These findings indicate that diode laser therapy is an effective adjunct to SRP, enhancing periodontal health outcomes with minimal post-operative complications. Full article

(This article belongs to the Special Issue Clinical Research on Oral Diseases)

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6 pages, 1055 KiB

Open AccessCase Report

Tumor Lysis Syndrome with Venetoclax/Carfilzomib/Dexamethasone for Relapsed/Refractory Multiple Myeloma: A Case Report

by Reilly Fankhauser, Alan Lu, Adetola Kassim and Eden Biltibo

Reports 2024, 7(4), 108; https://doi.org/10.3390/reports7040108 - 29 Nov 2024

Abstract

Background and Clinical Significance: Tumor lysis syndrome (TLS) is a rare occurrence in patients treated with venetoclax mono- or combination therapy, and clear protocols guiding TLS prophylaxis are lacking. Case Presentation: We present a 53-year-old male with a history of relapsed refractory multiple [...] Read more.

Background and Clinical Significance: Tumor lysis syndrome (TLS) is a rare occurrence in patients treated with venetoclax mono- or combination therapy, and clear protocols guiding TLS prophylaxis are lacking. Case Presentation: We present a 53-year-old male with a history of relapsed refractory multiple myeloma (RRMM) with t(11;14) treated with venetoclax, carfilzomib and dexamethasone (VenKd), resulting in TLS with subsequent renal failure. Repeat marrow biopsy showed no monoclonal plasma cells but extensive fibrosis. Venetoclax was reintroduced after two months with marrow recovery. Venetoclax was titrated from 200 to 400 mg daily alongside IV fluids and allopurinol without TLS recurrence. Conclusions: Here, we highlight the importance of risk stratification, dose titration, and TLS prophylaxis with venetoclax use in RRMM. Full article

(This article belongs to the Section Haematology)

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6 pages, 1371 KiB

Open AccessCase Report

Salmonella Brain Abscess in Sickle Cell Disease Patient: Case Report

by Felipe M. R. Monteiro, Ryan P. O’Boyle, Ruby R. Taylor, Danny L. John, Guilherme S. Piedade and Joacir G. Cordeiro

Reports 2024, 7(4), 107; https://doi.org/10.3390/reports7040107 - 27 Nov 2024

Abstract

Background and Clinical Significance: A brain abscess, defined as a localized intracranial infection that evolves into a purulent collection encased by a vascularized capsule, has higher prevalence among immunocompromised populations. Patients with sickle cell disease (SCD) are particularly vulnerable to bacterial infections [...] Read more.

Background and Clinical Significance: A brain abscess, defined as a localized intracranial infection that evolves into a purulent collection encased by a vascularized capsule, has higher prevalence among immunocompromised populations. Patients with sickle cell disease (SCD) are particularly vulnerable to bacterial infections due to their compromised immune systems, increasing their susceptibility to pathogens like Salmonella. While Salmonella is typically associated with gastroenteritis, osteomyelitis, and septicemia, its involvement in brain abscesses is exceedingly rare. There are few documented cases of Salmonella brain abscesses in the general population, and among patients with SCD, only one such case has been reported to date. In this report, we describe the second known case of a brain abscess caused by Salmonella infection in a patient with sickle cell disease, contributing to the limited literature on this rare and life-threatening condition. Case Presentation: A 32-year-old African American woman with sickle cell disease presented to the ER after a generalized seizure, reporting two weeks of worsening headaches, fevers, and left upper extremity weakness. Imaging revealed a right frontoparietal brain abscess, which was surgically drained, and cultures identified Salmonella enterica. After antibiotic treatment and a 23-day hospital stay, she was discharged. Four months later, she returned with another seizure during a sickle cell crisis, but follow-up MRI showed only minor scarring, and she was discharged on anticonvulsant therapy. Conclusions: This case emphasizes that Salmonella infections, though typically linked to osteomyelitis and sepsis, can also cause brain abscesses in immunocompromised patients like those with sickle cell disease. It highlights the need to consider infections alongside vascular causes in acute neurological cases and underscores the value of a multidisciplinary approach in managing such complex conditions. Full article

(This article belongs to the Section Infectious Diseases)

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7 pages, 3347 KiB

Open AccessCase Report

Arterial Embolization with n-Butyl-Cyanoacrylate for a Large Gluteal Intramuscular Hemangioma: A Case Report

by Nicolas Papalexis, Michela Carta, Giuliano Peta, Simone Quarchioni, Maddalena Di Carlo, Marco Miceli and Giancarlo Facchini

Reports 2024, 7(4), 106; https://doi.org/10.3390/reports7040106 - 26 Nov 2024

Abstract

Background and Clinical Significance: We wished to review the use of arterial embolization with n-butyl-cyanoacrylate (NBCA) to treat large high-flow vascular malformations due to its rapid polymerization and ability to permanently occlude large and small vessels. Case Presentation: A 52-year-old male [...] Read more.

Background and Clinical Significance: We wished to review the use of arterial embolization with n-butyl-cyanoacrylate (NBCA) to treat large high-flow vascular malformations due to its rapid polymerization and ability to permanently occlude large and small vessels. Case Presentation: A 52-year-old male presented with a two-year history of progressively worsening pain and swelling in the right gluteal area. Imaging techniques (color Doppler ultrasonography, CT, DSA, and MRI) were utilized for the diagnosis of a large high-flow intramuscular hemangioma. The mass displaced the surrounding tissues but showed no signs of lymphadenopathy or distant metastasis. The treatment involved targeting different arterial feeders over several sessions. Each procedure used NBCA–Lipiodol under fluoroscopic guidance, progressively reducing the malformation’s size and alleviating his symptoms. After the final embolization, the patient showed significant pain relief and a reduction in the size of the malformation, confirmed by follow-up imaging, demonstrating NBCA embolization’s effectiveness. The protocol’s safety and efficacy in this context are discussed. Conclusions: Arterial embolization with NBCA is a promising treatment for large high-flow vascular malformations, providing symptom relief and reductions in lesion size. While this case report highlights the procedure’s efficacy, further research is needed for a broader understanding of its long-term outcomes and potential complications. Full article

(This article belongs to the Section Oncology)

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7 pages, 367 KiB

Open AccessCase Report

“Crocus Flower”: Voriconazole-Induced Hallucinations and Visual Disturbances in a Patient with Recurrent Severe Vulvovaginitis—A Case Report on Irrational Drug Use

by Svetoslav Stoev and Hristina Lebanova

Reports 2024, 7(4), 105; https://doi.org/10.3390/reports7040105 - 22 Nov 2024

Abstract

Background and Clinical Significance: Voriconazole is a commonly prescribed second-generation azole used for the prevention and treatment of fungal infections. This report seeks to elucidate the relationship between certain intravenous infusion parameters and the causality and severity of potential visual adverse events associated [...] Read more.

Background and Clinical Significance: Voriconazole is a commonly prescribed second-generation azole used for the prevention and treatment of fungal infections. This report seeks to elucidate the relationship between certain intravenous infusion parameters and the causality and severity of potential visual adverse events associated with voriconazole administration, despite existing reports of visual disturbances such as hallucinations and altered visual perception, the underlying causes of which remain inadequately understood. Case Presentation: This case report describes a 32-year-old female patient who experienced sudden hallucinations and visual impairments after receiving an initial dose of intravenous voriconazole for the treatment of recurrent severe vulvovaginitis caused by Candida glabrata. The symptoms quickly disappeared when the dosage and infusion rate were reduced as per the recommendations of the clinical pharmacist. Conclusions: This example emphasizes the possible negative drug responses linked to voriconazole, especially those provoked by its irrational use described as an inappropriate infusion rate, and the crucial role of clinical pharmacists in recognizing and handling these reactions. Full article

(This article belongs to the Section Obstetrics/Gynaecology)

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