OpenMed/multicare-articles huggingface dataset:
Ruptured aneurysm at the fenestration of the middle cerebral artery detected by magnetic resonance angiography in a patient with systemic lupus erythematosus and renal failure: a case report
Authors: Sadaharu Tabuchi, Hiroki Yoshioka
Journal: J Med Case Rep (2014)

Introduction:
A cerebral aneurysm arising at the fenestration of the middle cerebral artery is extremely rare, with one report describing subarachnoid hemorrhage due to this type of lesion. There have been no reports of this type of lesion occurring in a patient with systemic lupus erythematosus.
Case presentation:
A 47-year-old Japanese woman with 23 years' history of systemic lupus erythematosus and chronic renal failure had sudden onset of subarachnoid hemorrhage. We avoided using contrast medium due to her chronic renal failure. Magnetic resonance angiography showed her ruptured aneurysm arising at the site of fenestration of her middle cerebral artery. Successful clipping, perioperative management avoiding the cerebral vasospasm, renal dialysis initiated after the acute phase and placement of a ventriculoperitoneal shunt were performed, and she was discharged home with no complications.
Conclusions:
This is the first report of ruptured aneurysm associated with middle cerebral artery fenestration in a patient with systemic lupus erythematosus as detected by magnetic resonance angiography. The presence and anatomical relationship of fenestration accompanied by aneurysm could be noninvasively and accurately evaluated preoperatively using three-dimensional time-of-flight magnetic resonance angiography with the volume rendering method in a case in which contrast medium was contraindicated.
Multiple Extracranial Metastases from Primary Gliosarcoma in a Patient with Two Previous Different Primary Cancers
Authors: T Capion, J Hauerberg, H Broholm, A Muhic
Journal: Case Rep Oncol Med (2019)
MeSH terms: Case Reports

Gliosarcoma (GS) constitutes a minor fraction of primary glioblastoma (GBM), which is the most frequent malignant brain tumor in adults. Despite the fact that malignant gliomas are highly invasive, extracranial metastases are very rarely seen, and the mechanisms behind extracranial dissemination are still unclarified. We report a case of a 55-year-old male with a prior history of two distinct primary cancer types who, as a third independent type, developed GS with penetrating tumor growth to the skull and subcutaneous soft tissue via explosive spreading through a titanium net as well as extracranial metastases to the lumbar spine, paravertebral musculature, and most likely the right lung. The case illuminates the clinical challenge of diagnosing extracranial metastases from primary GBM and GS as these are still unexpected, especially in cases with possible competing diagnoses.
A Case Report and Review of the Literature of Penile Metastasis From Rectal Cancer
Authors: Azuolas Kaminskas, Ausvydas Patasius, Marius Kincius, Virginijus Sapoka, Rytis Zilevicius, Aušra Garnelytė, Audrius Dulskas
Journal: Front Surg (2022)
Keywords: case report, corpus spongiosum, literature review, penile metastasis, rectal cancer
MeSH terms: Case Reports

Background:
Metastatic involvement of the penis in cases of rectal cancer is exceptionally rare condition. Our clinical case report and review of the literature will contribute in complementing currently limited data on penile metastasis from rectal cancer.
Case report:
We report a case of a 64-year-old male diagnosed with penile metastasis from rectal cancer. The patient was treated with neoadjuvant chemoradiotherapy followed by total mesorectal excision (TME). However, penile metastasis developed 3 years later, clinically presenting as penile pain and solid formations along the entire length of the penis with visible tumor in the head of the penis. The amputation of penis was performed, and adjuvant chemotherapy was prescribed. The patient survived only 6 months.
Conclusion:
Penile metastasis from rectal cancer in most cases is a lethal pathology that indicates wide dissemination of oncological disease and has a very poor prognosis. Aggressive surgical treatment is doubtful in metastatic disease as this will negatively affect the quality of life.
Perinatal Mental Health Care for Women With Severe Mental Illness During the COVID-19 Pandemic in India-Challenges and Potential Solutions Based on Two Case Reports
Authors: Sachin Nagendrappa, Pratibha Vinod, Naveen Manohar Pai, Sundarnag Ganjekar, Geetha Desai, M Thomas Kishore, Harish Thippeswamy, Kimneihat Vaiphei, Prabha S Chandra
Journal: Front Glob Womens Health (2021)
Keywords: covid-19, challenges, perinatal mental health, severe mental illness, virtual care

The ongoing COVID-19 pandemic in India has created several challenges in the care of women with perinatal mental illness. Access to healthcare has been disrupted by lockdowns, travel restrictions, and the unavailability of outpatient services. This report aims to discuss the challenges faced by women with severe mental illnesses during the perinatal period with the help of two case reports. Accordingly, we have highlighted the role of COVID-19 infection as a traumatic event during childbirth and its role in triggering a psychotic episode in women with vulnerabilities; difficulties faced by women with postpartum psychosis in accessing perinatal psychiatry services; and the challenges of admission into an inpatient Mother-Baby Unit (MBU). Further, we have discussed potential solutions from the perspectives of Lower and Middle-income (LAMI) countries that need to be extended beyond the pandemic. They include offering video consultations, reviewing hospital policies, and evolving strategies to mitigate traumatic experiences for pregnant and postpartum women with severe mental illnesses in both obstetric and psychiatric care.
Case report: Rare isolated cystic hepatic metastasis of a patient with squamous cell lung carcinoma history and the prognosis
Authors: Chunbao Liu, Xiaomin Chen, Hang Su, Liang Xia, Diyu Lu
Journal: Front Oncol (2022)
Keywords: 18f-fdg, pet/ct, cystic metastasis, immunotherapy, squamous cell lung carcinoma
MeSH terms: Case Reports

Cystic hepatic metastasis of squamous cell carcinoma usually develops from necrosis due to insufficient blood supply, yet metastasis initially resembling simple liver cyst is rare. Here, we present a case of a patient with squamous cell lung carcinoma history who found an isolated cystic mass in the liver. Historical MR studies indicated that the mass did not exist 12 months ago and emerged as a small cystic lesion 7 months ago. Radiological findings and tumor markers level suggested metastasis, while 18F-Fluorodeoxyglucose (18F-FDG) PET/CT showed moderate tracer uptakes in solid parts of the mass. Pathological study after surgery confirmed metastatic squamous cell carcinoma. Chemotherapy plus recombinant human endostatin and sintilimab therapy was employed after surgery; however, the patient developed remote metastasis of osteolytic lesions in the humerus bone and thoracic vertebra. Our case indicates that metastasis should be taken into consideration in emerging cystic hepatic lesion with malignant history.
Review of Cases of E-Cigarette or Vaping Product Use-Associated Lung Injury (EVALI) and Brief Review of the Literature
Authors: Amr Essa, Jeffrey Macaraeg, Nikhil Jagan, Daniel Kwon, Saboor Randhawa, Matthew Kruse, Stanley Thomas, Manasa Velagapudi, John Horne, Shraddha Narechania, Michael Kaster, Carrie Valenta, Venketraman Sahasranaman, Douglas Moore
Journal: Case Rep Pulmonol (2020)
MeSH terms: Case Reports

Since the appearance of the E-Cigarette in the early 2000s, its industry, popularity, and prevalence have risen dramatically. In the past, E-Cigarette use with the vaping of nicotine or cannabis products had been associated with a few reported cases of lung injury. However, in 2019, thousands of cases of E-Cigarette or vaping product use-associated lung injury (EVALI) were reported in the United States. Evidence linked this outbreak with vaping of tetrahydrocannabinol (THC). We report two confirmed cases of EVALI and their associated clinical, radiologic, and pathologic features. This report supports the growing body of information regarding EVALI. It also discusses various substances, particularly vitamin E acetate, which has been suggested as a causative agent.
Renal Carcinoma and Kartagener Syndrome: An Unusual Association
Authors: Hamza Dergamoun, Abdelilah El Alaoui, Imad Boualaoui, Hachem Sayegh, Lounis Benslimane, Yassine Nouini
Journal: Case Rep Urol (2020)
MeSH terms: Case Reports

Background:
The association of renal cell carcinoma and Kartagener's syndrome is unusual, and only eleven cases have been reported in the literature. The purpose of this work is to analyze this unusual association of Kartagener's syndrome and renal cell tumor and to study the main diagnostic and therapeutic aspects through our observation and review of the literature. Case Presentation. We report the case of a 50-year-old patient, with a history of recurrent respiratory infections, in whom a renal tumor was simultaneously diagnosed with Kartagener's syndrome, represented by situs inversus, bronchiectasia, and chronic sinusitis. The patient was treated by partial nephrectomy, and the histological examination showed a clear cell carcinoma. Through this observation and a review of the literature, we try to analyze this association as well as the main diagnostic and therapeutic aspects.
Conclusion:
The association of situs inversus and renal cell carcinoma is very rare-preoperative assessment and anatomy knowledge are crucial for a better adaptation of the surgical technique.
Traumatic Atrial Septal Defect Repair via Primary Endovascular Suture Method: Case Report and Operative Technique
Authors: Sandor Toledo, Christopher Wang, Megan Satyadi, Papus Keita, Anthony Nobles, Timothy Misselbeck, Bryan Kluck
Journal: Cureus (2023)
Keywords: atrial septal defects, interventional cardiologist, intracadiac echocardiogram, septal defect primary repair, traumatic septal defects
MeSH terms: Case Reports

We report a case of a 20-year-old male with no prior medical history who was found to have an atrial septal defect on echocardiography following a motor vehicle accident (MVA). The patient underwent primary percutaneous defect closure using the NobleStitch EL (Heartstitch, Fountain Valley, California) cardiovascular suturing system with intra-operative Doppler echocardiogram showing no residual shunt or color flow. There were no operative complications. At five months follow-up, the patient reported no symptoms from the procedure. In the case of traumatic atrial septal defect repair, the NobleStitch EL system may be utilized as an alternative to open heart surgery.
A 40-Year-Old Male Presenting with Hereditary Multiple Exostosis: Management and Considerations
Authors: Matthew Wells, Zackary Birchard
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

Hereditary multiple exostosis is a rare condition in which numerous benign osteochondromas form throughout the body, typically in areas of high bone turnover such as the metaphyseal plates of long bones. While many of these lesions remain clinically asymptomatic, other growth locations can lead to excruciating pain, limit a joint's range of motion, and compromise neurovascular structures. These patients undergo multiple surgeries throughout their lifetime in order to remove symptomatic osteochondromas. Due to deformities and changes in bone structure, these patients also suffer from significant arthritis which may also require surgery. It is important that a skilled orthopedic surgeon follow these patients in order to help them make informed decisions and limit the number of surgeries within their lifetime. The purpose of this case report is to discuss one instance in which a patient's significant arthritis was operatively managed in the setting of hereditary multiple exostosis.
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis
Authors: Chiara Chiereghin, Michela Robusto, Antonio Mastrangelo, Pierangela Castorina, Giovanni Montini, Marisa Giani, Stefano Duga, Rosanna Asselta, Giulia Soldà
Journal: PLoS One (2017)
MeSH terms: Exome, Mutation, Nephritis, Hereditary / genetics, Sequence Analysis / methods, Case Reports, Adult, Female, HEK293 Cells, Humans, Male, Middle Aged, Pedigree, RNA Splicing, Young Adult

Alport syndrome (AS) is an inherited progressive renal disease caused by mutations in COL4A3, COL4A4, and COL4A5 genes. Despite simultaneous screening of these genes being widely available, mutation detection still remains incomplete in a non-marginal portion of patients. Here, we applied whole-exome sequencing (WES) in 3 Italian families negative after candidate-gene analyses. In Family 1, we identified a novel heterozygous intronic variant (c.2245-40A>G) -outside the conventionally screened candidate region for diagnosis- potentially disrupting COL4A5 exon29 splicing. Using a minigene-based approach in HEK293 cells we demonstrated that this variant abolishes exon29 branch site, causing exon skipping. Moreover, skewed X-inactivation of the c.2245-40A>G allele correlated with disease severity in heterozygous females. In Family 2, WES highlighted a novel COL4A5 hemizygous missense mutation (p.Gly491Asp), which segregates with the phenotype and impacts on a highly-conserved residue. Finally, in Family 3, we detected a homozygous 24-bp in-frame deletion in COL4A3 exon1 (NM_000091.4:c.30_53del:p.Val11_Leu18del or c.40_63del24:p.Leu14_Leu21del), which is ambiguously annotated in databases, although it corresponds to a recurrent AS mutation. Functional analyses showed that this deletion disrupts COL4A3 signal peptide, possibly altering protein secretion. In conclusion, WES -together with functional studies- was fundamental for molecular diagnosis in 3 AS families, highlighting pathogenic variants that escaped previous screenings.
Obstructive Giant Inflammatory Polyposis: Is It Related to the Severity or the Duration of the Inflammatory Bowel Disease? Two Case Reports
Authors: Antoine Abou Rached, Jowana Saba, Leila El Masri, Mary Nakhoul, Carla Razzouk
Journal: Case Rep Gastrointest Med (2018)
MeSH terms: Case Reports

We report two cases of giant inflammatory polyposis (GIP) with totally different presentation and evolution. The first patient had two giant pseudopolyps after one year of the diagnosis of UC. The second patient had one obstructive giant pseudopolyp secondary to CD at the level of the transverse colon, being totally asymptomatic years before the presentation. GIP is a rare complication of inflammatory bowel disease (IBD). It consists of numerous filiform polyps that look like a "mass of worms" or a "fungating" mass. Surgical resection is inevitable when GIP presents with obstructive symptoms.
Dystonic Movement Disorder as Symptom of Catatonia in Autism Spectrum Disorder
Authors: Maria Pia Riccio, Rosamaria Siracusano, Ilaria d'Alessandro, Maria Marino, Carmela Bravaccio
Journal: Case Rep Psychiatry (2020)
MeSH terms: Case Reports

Background:
Catatonia is increasingly recognized as a comorbid psychiatric condition in autism spectrum disorder (ASD), but the overlap of behavioral characteristics between these disorders raises many diagnostic challenges. Moreover, recognizing symptoms in ASD patients with medium-low functioning might be difficult. Literature on this argument is poor, especially for children. Case presentation. We report the case of an ASD patient with low cognitive functioning, who presented a complex symptomatology, characterized by progressive regression with loss of autonomy and involuntary movements that assume "dystonic" features. Organic pathology was excluded, and catatonia, with peculiar dystonic characteristics, was diagnosed. An intervention based on elimination of stressful factors, resumption of routines, and support for parents led to the resolution of catatonic symptoms.
Conclusions:
The case describes the presence among the catatonic symptoms in ASD of involuntary "dystonic" movements; so far, little reported in literature; it highlights that the catatonia may present with a broad spectrum of motor abnormalities. There is still little evidence for treatment of catatonia and ASD. Our case highlights how it is equally important to take into account triggering factors when implementing a nonpharmacological treatment. So, it represents an example of diagnostic and therapeutic challenges of catatonia in ASD, especially in low functioning forms.
Corneal perforation after corneal foreign body - Case Report
Authors: Sorin Simion Macarie, Fodor Vlad, Daniela Mariana Macarie
Journal: Rom J Ophthalmol (2023)
Keywords: corneal anaesthesia, corneal foreign body, corneal melting, corneal perforation, neurotrophic keratitis
MeSH terms: Corneal Perforation / diagnosis, Corneal Perforation / etiology, Corneal Ulcer / drug therapy, Eye Foreign Bodies / complications, Eye Foreign Bodies / diagnosis, Eye Foreign Bodies / surgery, Case Reports, Anti-Bacterial Agents / therapeutic use, Anti-Inflammatory Agents, Anti-Inflammatory Agents, Non-Steroidal / therapeutic use, Cornea / surgery, Humans, Anti-Inflammatory Agents, Non-Steroidal, Anti-Inflammatory Agents, Anti-Bacterial Agents

Purpose: To present the case of a patient with a history of trauma and corneal foreign body in the right eye, followed by decreased visual acuity in the right eye, corneal perforation with good recovery after surgical treatment. Material and method: We report a case of a patient who presented to our clinic with a sudden decrease of visual acuity in the right eye, two months after an incident resulting in a corneal foreign body in the right eye. In the case presented, the patient applied a local medical self-treatment, an antibiotic and a topical corticosteroid. After a few weeks, the patient presented to the ophthalmologist, a foreign body was extracted from the cornea of the right eye and a topical treatment with a non-steroidal anti-inflammatory drug, a cycloplegic and an antibiotic were indicated. However, corneal perforation occurred and the patient was urgently sent to our service, where a corneal anaesthesia was also found. Results: Corneal perforation healed with a minor paracentral opacification. Discussions: Corneal perforation in our patient was due to corneal melting because of topical steroid anti-inflammatory autotherapy, late corneal foreign body extraction and topical treatment with non-steroidal anti-inflammatory drugs. Corneal anesthesia is also an important factor that enhances corneal melting and perforation. The surgical intervention performed healed the corneal perforation. Conclusions: Corneal anaesthesia and topical anti-inflammatory administration led to corneal perforation. Corneal sensitivity should be tested in patients with corneal foreign body. Corneal patching proved to be an adequate solution in this patient.
A Patient with Non-Hodgkin Lymphoma and Nonspecific Interstitial Pneumonia during Ibrutinib Therapy
Authors: Sven Jungmann, Wolf-Dieter Ludwig, Nicolas Schönfeld, Torsten-Gerriet Blum, Claudia Großwendt, Christian Boch, Beate Rehbock, Sergej Griff, Alexander Schmittel, Torsten T Bauer
Journal: Case Rep Oncol Med (2017)
MeSH terms: Case Reports

We present a 74-year-old male with nonspecific interstitial pneumonia (NSIP) during treatment with ibrutinib for mantle cell lymphoma. Previously, the patient had received six cycles of bendamustine and rituximab and six cycles of R-CHOP, followed by rituximab maintenance therapy. Respiratory tract complications of ibrutinib other than infectious pneumonia have not been mentioned in larger trials, but individual case reports hinted to a possible association with the development of pneumonitis. In our patient, the onset of alveolitis that progressed towards NSIP together with the onset of ibrutinib treatment suggests causality. One week after ibrutinib was discontinued, nasal symptoms resolved first. A follow-up CT showed a reduction in the reticular hyperdensities and ground-glass opacities, suggestive of restitution of the lung disease. To our knowledge, this is the first case showing a strong link between ibrutinib and interstitial lung disease, strengthening a previous report on subacute pneumonitis. Our findings have clinical implications because pulmonary side effects were reversible at this early stage. We, therefore, suggest close monitoring for respiratory side effects in patients receiving ibrutinib.
Case Report: A rare case of gastric-type adenocarcinoma of stumps of duplicated cervices in a 49-year-old woman: A case with hidden focus confused us a lot
Authors: Xiaolin You, Li He, Yonghong Lin, Lu Huang, Xihao Wang, Zhigang Wang
Journal: Front Oncol (2023)
Keywords: cervical stump carcinoma, didelphic uterus, duplicated cervices, endocervical adenocarcinoma, gastric-type, human papilloma virus
MeSH terms: Case Reports

Gastric-type endocervical adenocarcinoma (G-EAC) is a rare special type of cervical mucinous adenocarcinomas, and it is reported the incidence is unrelated to human papilloma virus infection. We report a rare case of G-EAC in stumps of duplicated cervices in a 49-year-old female patient. The woman complained of post-coital bleeding. She had a didelphic uterus with a duplex cervix, and had undergone subtotal hysterectomy 16 years ago. Gynecological examination revealed a normal-appearing right cervix, but the non-dominant side of the left cervix, which was buried and covered by the side wall of the left vagina, was difficult to view. After exposing, the left side cervix presented a mature appearance which was smaller than a normal cervix. Her serum carbohydrate antigen-19-9 levels was 112.59 U/ml. The right cervix's cytology was normal, whereas the left cervix had unusual glandular epithelial cells. HPV testing on both cervical smears was negative. Adenocarcinoma was identified at 3, 6, 12 o'clock at the right cervix in a colposcopy-directed punch biopsy, while no abnormality was found in the biopsy of the left cervix, nor in the curettage of the double cervices. Pelvic magnetic resonance imaging (MRI) revealed two cervical canals, with a 1.9cm×1.6cm mass inside the left cervix, and the left wall of the right cervix may be involved by the tumor of the left cervix. After much deliberation, we considered that the patient had adenocarcinoma of the left cervix stage IB1. Then, the patient underwent radical cervical resection with bilateral salpingo-oophorectomy and bilateral pelvic lymphadenectomy. Her final histopathology indicated G-EAC of the duplicated cervices. After surgery, she received concurrent chemoradiation. Currently, 29 months after the final chemotherapy was administered, the patient remains healthy. Because G-EAC with duplicated cervices is an uncommon cunning tumor with a bad prognosis, early identification and therapy are recommended to enhance the prognosis. The comprehensive evaluation of symptoms and gynecological examination with cervical cytology, colposcopy-directed punch biopsy, endocervical curettage and MRI examine together may assist in determining an accurate preoperative diagnosis.