OpenMed/multicare-articles huggingface dataset:
Squamous cell carcinoma with apocrine features of the breast: A case report
Authors: Yoshiki Naito, Rin Yamaguchi, Masaya Tanaka, Akihiro Saruwatari, Yoshikuni Torii, Takahisa Tsukamoto, Naoyo Nishida, Koichi Higaki
Journal: Oncol Lett (2014)
Keywords: apocrine carcinoma, breast, breast cancer, squamous cell carcinoma

A rare case of squamous cell carcinoma (SCC) with apocrine features was investigated; the focus was on the histological characteristics of the cancer cells in a 68-year-old female exhibiting an ulcerated lesion of the right breast. Diagnostic imaging methods identified a lobulated solid tumor and indicated multiple enlarged lymph nodes in the left axilla, which confirmed the diagnosis of advanced breast cancer; thus, a mastectomy was performed. Macroscopic investigations identified the tumor as a white, solid lesion measuring 66 × 68 × 47 mm, which exhibited necrosis. Histologically, the tumor was predominantly solid and exhibited nest patterns, in addition to intracellular keratinization. Immunohistochemical staining identified the tumor cells as positive for cytokeratin 5/6, 34βE12 and P63. The lesion was considered to be an SCC demonstrating negative expression for the human epidermal growth factor receptor 2, estrogen receptor and progesterone receptor; therefore, the tumor was a triple-negative breast cancer. Conversely, approximately one-third of the tumor cells indicated abundant eosinophilic cytoplasm and gross cystic disease fluid, which was demonstrated via protein-15 staining; this indicated the presence of apocrine features. In addition, the androgen receptor was expressed in the tumor cells, thus the lesion was diagnosed as an SCC of the breast, exhibiting apocrine features.
A validation of presepsin levels in kidney dysfunction patients: four case reports
Authors: Atsushi Kotera, Katsuyuki Sagishima, Takahiro Tashiro, Daisuke Niimori, Hidenobu Kamohara, Yoshihiro Kinoshita
Journal: J Intensive Care (2014)
Keywords: acute kidney injury, chronic kidney disease, presepsin, sepsis

Here, we measured presepsins (PSPs) in four patients with acute kidney injury (AKI) or chronic kidney disease (CKD) and discuss the relationship between PSP and kidney dysfunction. Case 1: an 83-year-old man was admitted to the ICU to manage postoperative respiratory failure with AKI. He had undergone resection for rectal cancer and ileal conduit replacement. On day 1 in the ICU, Escherichia coli (E. coli) was isolated by urine culture. PSP level (pg/ml) on day 2 was 2,745 without elevation of other conventional biomarkers. On day 6, the patient was diagnosed with severe sepsis, and E. coli was isolated by blood culture. By then, PSP had risen to 3,977, along with elevation of other conventional biomarkers. His kidney function recovered gradually after continuous administration of hemodiafiltration; however, PSP continued to rise up to 6,051, along with high systemic inflammatory response syndrome (SIRS) and Acute Physiology and Chronic Health Evaluation (APACHE) II values. The patient expired on day 13 due to multiple organ failure. Case 2: a 78-year-old woman with CKD on hemodialysis (HD) was admitted to the ICU after cardiovascular surgery. Continuous HD was administered postoperatively, and PSP ranged from 1,473-1,870 without signs of sepsis. Temporary elevation of other conventional biomarkers was observed postoperatively. Case 3: a 74-year-old woman with CKD on HD was admitted to the ICU after neurosurgery. She underwent intermittent HD postoperatively, and PSP ranged from 1,240-1,935 without sepsis symptoms. Temporary elevation of other conventional biomarkers was observed postoperatively. Case 4: a 62-year-old man with CKD was admitted to the ICU to control gastrointestinal bleeding. PSP was 606 without signs of infection or elevation of other conventional biomarkers. In cases 2, 3, and 4, bacteria were not isolated in blood cultures. Patients' clinical prognoses were good, with low or moderate SIRS and APACHE II scores. PSP in kidney dysfunction patients will be high despite non-infectious conditions. Therefore, evaluation of PSP in kidney dysfunction patients will be difficult. Further investigation is needed to clarify the relationship between PSP and kidney dysfunction.
A Phenotype and Genotype Case Report of a Neonate With Congenital Bilateral Coronary Artery Fistulas and Multiple Collateral Arteries
Authors: Shixin Su, Shuliang Xia, Ye He, Jianbin Li, Li Ma, Xinxin Chen, Jia Li
Journal: Front Cardiovasc Med (2022)
Keywords: drc1, congenital heart defect, coronary artery fistula, multiple collateral arteries, whole-exome sequencing
MeSH terms: Case Reports

We report a unique case of an 18-day-old girl with three coronary artery fistulas to the right atrium and right ventricle, respectively: three collateral arteries arising from the descending aorta and one from the right subclavian artery draining through a sac to the top of the right atrium, patent ductus arteriosus, and atrial septal defect. She presented symptoms of acute congestive heart failure. Cardiac catheterization and surgical interventions were performed to repair the defects. The patient recovered uneventfully and grew up well at 3 years of follow-up. Whole-genome sequencing (WES) in the patient, compared to her parents, showed 17 variants within 11 genes. Among these, only compound heterozygous mutation, c.T470G (p.L157R) and c.A1622G (p.D541G), in the DRC1 gene have been reportedly related to congenital heart disease and are the most likely causative in our patient.
Subepithelial Corneal Deposits Associated with Exemestane
Authors: Annahita Amireskandari, Elena Nguyen, David Hinkle, Thomas Mauger
Journal: Case Rep Ophthalmol Med (2020)
MeSH terms: Case Reports

This is a case report of corneal deposits noted in a 69-year-old female patient taking the aromatase inhibitor, exemestane, after undergoing a mastectomy and chemotherapy for breast cancer. The patient presented to our eye clinic for a new-onset floater in one eye, and bilateral subepithelial opacities were found incidentally on exam. The patient completed a 5-year course of the medication shortly after her initial visit with us and was noted to have a slight improvement in the density of the opacities on a follow-up visit 3 months later. We believe these corneal changes were most likely secondary to exemestane. The effect of aromatase inhibitors on the eye deserves further exploration as an increasing number of patients are prescribed these medications.
Case report: 125I seed implantation for rare malignant solitary fibrous tumor in the pelvic cavity: a case report
Authors: Zhen Gao, Huimin Yu, Xuemin Di, Jinxin Zhao, Yansong Liang, Zezhou Liu, Juan Wang, Hongtao Zhang
Journal: Front Oncol (2022)
Keywords: 125i seeds, msft, brachytherapy, malignant solitary fibrous tumor, recurrence
MeSH terms: Case Reports

Solitary fibrous tumor (SFT) is a rare spindle cell tumor, benign or low-grade malignant, with an extremely low possibility of occurrence of malignant solitary fibrous tumor (MSFT). Surgery is an effective way for treating SFT, but it is often difficult to resect completely due to a large size, with a high recurrence rate and mortality rate after operation. Additionally, SFT is relatively resistant to chemotherapy, and there is a lack of effective systemic drug treatment. These lead to certain difficulties in the treatment of SFT. We report a case of a rare MSFT in the pelvic cavity. With a history of recurrence after two surgeries, this patient underwent surgical removal combined with 125I seed implantation at our hospital in the context that the tumor could not be completely removed because it was large and adhered to surrounding tissues; after up to 43 months of progression-free survival (PFS), the patient underwent 125I seed implantation alone, and achieved a complete remission, with a PFS up to 35 months. 125I seed implantation can be a safe and effective treatment option for unresectable MSFT as well as a potential solution to repeated local recurrence.
Membranoproliferative glomerulonephritis and x-linked agammaglobulinemia: an uncommon association
Authors: Vasco Lavrador, Filipa Correia, Rita Sampaio, Cristina Cândido, Maria Sameiro-Faria, Laura Marques, Conceição Mota
Journal: Case Rep Pediatr (2014)

Introduction. X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by agammaglobulinemia requiring replacement treatment with immunoglobulin. The association of XLA and membranoproliferative glomerulonephritis (MPGN) is unexpected and, to our knowledge, only one case was previously published. Case Report. The authors report the case of a 10-year-old boy with family history and prenatal diagnosis of XLA, treated from birth with intravenous immunoglobulin replacement therapy. He presented with pneumonia, macroscopic hematuria, nephrotic proteinuria, hypoalbuminemia, and hypercholesterolemia with normal renal function and serum complement levels. Renal histology showed immune complex mediated MPGN. He was started on high dose prednisolone and ramipril and switched to weekly subcutaneous immunoglobulin. After a 4-month treatment, hematuria and proteinuria significantly improved and prednisolone was gradually tapered without relapse. Conclusion. The pathogenic process underlying MPGN development in this patient is unknown but residual humoral immunity might play an important role. Thus, this case highlights the risk of autoimmune disorders among patients with XLA.
Traumatic injuries in pregnant women: a case of motor vehicle accident for "Ground Round" discussion
Authors: Alireza Ahmadi, Taravat Fakheri, Javad Amini-Saman, Omid Amanollahi, Mahmoudreza Mordi, Maryam Almasi Nasrabadi, Yousef Gholipour, Reza Dehghani, Shahrzad Bazargan-Hejazi
Journal: J Inj Violence Res (2011)
MeSH terms: Accidents, Traffic, Multiple Trauma / complications, Pregnancy Complications / therapy, Case Reports, Abdominal Injuries / complications, Abdominal Injuries / therapy, Adult, Female, Fibula / injuries, Humans, Multiple Trauma / therapy, Pelvis / injuries, Perineum / injuries, Pregnancy, Tibial Fractures / complications, Tibial Fractures / therapy, Treatment Outcome

The main objective for introducing this case study is to create a platform from which the importance of road traffic related injuries and traumas can be emphasized and discussed within and across various fields of investigation. The long term goal is to entice public campaign around unmet needs for higher road safety measures to reduce primary, secondary, and tertiary risks of injuries and traumas.
Case:
a 28-year-old pregnant woman with a 16-week gestational age fetus was involved in a road car crash resulting in multiple traumas. Evaluation and treatment was initiated in the local Urgent Care Unit and continued in the emergency department and operation room. Patient underwent the following procedures: laparotomy, diverting colostomy, terminating pregnancy, right calcaneal traction and long leg splint, as well as multiple irrigation-debridements. Finally, the wound was left open and the patient was admitted to Intensive Care Unit. We hope that the introduction of this case for a "Ground Round" discussion will stir up a comprehensive discussion regarding the injury and trauma related preventive measures as well as treatment approaches in cases involving pregnant women in car accidents, and will bring about a holistic overview of this issue by the experts in various fields. ‎
Combination of Mustardé cheek advancement flap and paramedian forehead flap as a functional and aesthetic alternative
Authors: Paola Solis-Pazmino, Richard Godoy, Eduardo Pilatuña, Carla Rocha, Cristhian García
Journal: J Surg Case Rep (2023)
MeSH terms: Case Reports

Depending on the size and location, defects resulting from the surgical procedure due to basal cell carcinoma (BCC) may be challenging to reconstruct. A combination of more than one flap type might be necessary for moderate to large-sized defects, especially in face lesions. We present a patient with a large BCC in the nasal region, successfully closed using a combination of rotation and advancement flaps. The patient showed excellent functional and cosmetic outcomes.
Novel microduplication of CHL1 gene in a patient with autism spectrum disorder: a case report and a brief literature review
Authors: Chunyang Li, Chunxue Liu, Bingrui Zhou, Chunchun Hu, Xiu Xu
Journal: Mol Cytogenet (2016)
Keywords: 3p263 microduplication, autism spectrum disorder, chl1 gene, developmental delay
MeSH terms: Case Reports

Background:
The cell adhesion molecule L1-like (CHL1 or CALL) gene is located on chromosome 3p26.3, and it is highly expressed in the central and peripheral nervous systems. The protein encoded by this gene is a member of the L1 family of neural cell adhesion molecules, and it plays a role in nervous system development and synaptic plasticity. Moreover, studies of mice have revealed that CHL1 is a prime candidate gene for a dosage-sensitive autosomal form of mental retardation. To date, four patients with a microdeletion and two with a microduplication of 3p26.3 encompassing only the CHL1 gene have been reported in literature.
Case presentation:
In the present study, we have described a 16-month-old boy with autism spectrum disorder (ASD), developmental delay and minor dysmorphic facial features. This is the first report of a duplication of 3p26.3 including only the CHL1 gene in an ASD patient, and this duplication is the smallest reported to date in this gene. We also reviewed CHL1 gene mutation cases and examined whether this gene has an important role in cognitive function.
Conclusions:
We conclude that both CHL1 deletions and duplications are likely responsible for the patient's impaired cognitive function, and CHL1 may be an intriguing ASD candidate gene.
Case report: Fetal cervical immature teratoma and copy number variations
Authors: Dianjie Li, Hong Gao, Wanting Zheng, Chunzhu Jin, Yuxin Huang, Shilei Pan
Journal: Front Oncol (2022)
Keywords: chromosome microarray, copy number variations, mutation, teratoma, whole exome sequencing
MeSH terms: Case Reports

Fetal cervical teratoma is a rare congenital neck tumor. Here, we report a case of a fetus with an anterior solid neck tumor that was confirmed to have an immature teratoma by histology. A duplication was found at chromosome 14q24.1-q24.3 of the fetus in chromosome microarray (CMA) and whole exome sequencing (WES), which was a copy number variation (CNV) and a probably new-onset. Ultrasound coupled with magnetic resonance imaging (MRI) can be considered to be a relatively reliable diagnostic tool, whereas ex-utero intrapartum therapy or resection of the tumor mass on placental support may improve the chances of the newborn's survival. Strangely, the same duplication occurred on her next fetus that was found with complex congenital heart malformations. CNV at chromosome 14q24.1-q24.3 needs to be paid more attention.
Bilateral Neurofibromas of the Nipple-Areolar Complex: A Case Report and Approach to Diagnosis
Authors: Emily Hero, Martyn Carey, Isabelle Hero, Abeer M Shaaban
Journal: Case Rep Pathol (2018)
MeSH terms: Case Reports

Neurofibromatosis type 1 is an autosomal dominant condition which can manifest as multiple neurofibromas within subcutaneous tissue. Neurofibromas of the breast are rare and most often encountered on the nipple-areolar complexes. A 33-year-old woman presented with large, bilateral, fleshy, skin tags of the nipple-areolar complexes. She underwent bilateral diagnostic excision of the lesions and macroscopically, both nipple specimens displaying polypoid lesions. Histological examination showed bilateral neurofibromas comprising skin with underlying dermal proliferation of bland spindle shaped cells with wavy nuclei. Immunohistochemistry confirmed the spindle cell proliferation to be neural in origin; positive for S100 and neurofilament and negative for cytokeratins. This was associated with florid smooth muscle proliferation. This case demonstrates a rare presentation of nipple-areolar neurofibroma occurring within the skin and nipple parenchyma. Our report considers the differential diagnoses of spindle cell proliferation within the dermis and subcutis of the breast and also other deeper breast spindle cell lesions that may involve the nipple. It aims to provide an approach to diagnosing these lesions examining the literature surrounding breast neurofibromas.
Excited Catatonia in Autism Spectrum Disorder: A Case Series
Authors: Nora Kathleen Burns, Kathleen Grissett, Marc Macaluso, Mohsin Raza, Barbara Gracious
Journal: Front Psychiatry (2021)
Keywords: ect, autism spectrum disorder, catatonia, excited catatonia, pediatric
MeSH terms: Case Reports

Introduction: Autistic catatonia is an under-recognized debilitating syndrome with long-lasting negative effects for families, healthcare workers, and high-cost to the healthcare system. In this report, we describe two cases of excited catatonia in young men diagnosed with autism. Both endured a delay to diagnosis and difficulty to obtain appropriate treatment. Main concern: Each patient had a change in behavior from their baseline but with differences in severity and onset. The diagnosis in the first patient was made after only 3 months as the change was dramatic and sudden. Yet, despite a confirmed diagnosis, it was difficult to treat as the importance of M-ECT was not recognized by the clinicians. The second patient had been suffering for more than 5 years with a slow progression of worsening aggressive symptoms. The aggression was so uncontrollable that the patient required sedation, intubation and daily ECT. Both suffered from agitation, unprovoked aggression, urinary incontinence, stereotypic, and OCD behaviors and compulsive masturbation. Primary Diagnosis, intervention/outcomes: Both patients were diagnosed with autism, one high-functioning, attending high school and working a part-time job, the second low-functioning, nearly non-verbal, isolated to home and ABA school. The first patient's diagnosis of catatonia was only suspected after five psychiatric admissions and more than 20 medication trials. Lorazepam challenge was effective, he was treated with a short series of ECT but each time the treatments were tapered, the aggression returned. Ultimately, stabilized on weekly ECT. The second patient's behavior was escalating over a 5 month period, to the point, the aggression was uncontrollable. He presented to the ED under involuntary hold and the behavior could not be stabilized to the point that emergent ECT was initiated. Conclusion: Two cases of autistic catatonia diagnosed and treated within a year time span at a small community hospital indicates that this diagnosis is more common than previously recognized. We propose screening all patients with neurodevelopmental disorders with the Bush-Francis and Kanner scales to diagnose and treat them appropriately.
CASE REPORT An Unusual Case of Abdominal Compartment Syndrome Following Resection of Extensive Posttraumatic Mesenteric Ossification
Authors: William M Nabulyato, Hebah Alsahiem, Nigel R Hall, Charles M Malata
Journal: Eplasty (2013)

Introduction:
Heterotopic mesenteric ossification is an extremely rare condition, which often follows trauma and is frequently symptomatic. To date, there are no reports in the literature of abdominal compartment syndrome occurring after surgical resection of mesenteric calcification. The present report documents an unusual case of compartment syndrome complicating resection of extensive mesenteric calcification despite abdominal closure with the components-separation technique.
Method:
A 48-year-old man undergoing components-separation technique for posttraumatic laparostomy hernia repair (ileostomy reversal and sigmoid stricture correction) was found to have extensive heterotopic mesenteric calcification, which needed resection.
Results:
Resection of the mesenteric calcification was complicated by intraoperative hemorrhage and unplanned small bowel resection. Later the patient developed secondary hemorrhage leading to an abdominal compartment syndrome, which was successfully treated by decompression, hemostasis, and Permacol-assisted laparotomy wound closure. The patient remains symptom-free more than 2 years after surgery.
Discussion:
The case herein reported gives an account of the rare occurrence of abdominal compartment syndrome following resection of posttraumatic ectopic mesenteric ossifications. It is highly unusual in that it occurred because of "secondary hemorrhage" and despite abdominal closure with the components-separation technique, which had been undertaken precisely to prevent compartment syndrome with direct closure. It therefore highlights the need for continued clinical vigilance in complex posttraumatic cases.
Acute Hemorrhagic Leukoencephalitis: A Case and Systematic Review of the Literature
Authors: Pascale Grzonka, Marleen C Scholz, Gian Marco De Marchis, Kai Tisljar, Stephan Rüegg, Stephan Marsch, Joachim Fladt, Raoul Sutter
Journal: Front Neurol (2020)
Keywords: immunosuppressive therapy, leukoencephalitis, mortality, outcome, parainfectious disease
MeSH terms: Systematic Review

Objectives: To present a patient with acute hemorrhagic leukoencephalitis (AHLE) and a systematic review of the literature analyzing diagnostic procedures, treatment, and outcomes of AHLE. Methods: PubMed and Cochrane databases were screened. Papers published since 01/01/2000 describing adult patients are reported according to the PRISMA-guidelines. Results: A 59-year old male with rapidly developing coma and cerebral biopsy changes compatible with AHLE is presented followed by 43 case reports from the literature including males in 67% and a mean age of 38 years. Mortality was 47%. Infectious pathogens were reported in 35%, preexisting autoimmune diseases were identified in 12%. Neuroimaging revealed uni- or bihemispheric lesions in 65% and isolated lesions of the cerebellum, pons, medulla oblongata or the spinal cord without concomitant hemispheric involvement in 16%. Analysis of the cerebrospinal fluid showed an increased protein level in 87%, elevated white blood cells in 65%, and erythrocytes in 39%. Histology (reported in 58%) supported the diagnosis of AHLE in all cases. Glucocorticoids were used most commonly (97%), followed by plasmapheresis (26%), and intravenous immunoglobulins (12%), without a clear temporal relationship between treatment and the patients' clinical course. Conclusions: Although mortality was lower than previously reported, AHLE remains a life-threatening neurologic emergency with high mortality. Diagnosis is challenging as the level of evidence regarding the diagnostic yield of clinical, neuroimaging and laboratory characteristics remains low. Hence, clinicians are urged to heighten their awareness and to prompt cerebral biopsies in the context of rapidly progressive neurologic decline of unknown origin with the concurrence of the compiled characteristics. Future studies need to focus on treatment characteristics and their effects on course and outcome.