OpenMed/multicare-articles huggingface dataset:
Case Report: Surgery and genetic analysis of a complete androgen insensitivity syndrome family with testicular malignant tumors
Authors: Lu Jiang, Peng Jia, Baofeng Duan, Yan Zhang
Journal: Front Genet (2023)
Keywords: ar gene, case report, complete androgen insensitivity syndrome, seminoma, whole exome sequencing
MeSH terms: Case Reports

Introduction: Complete androgen insensitivity syndrome (CAIS) is a rare sex development disorder that results from X-linked androgen receptor gene mutations. Malignant transformation of the gonads is the most feared complication in postpubertal patients. Methods: In the current report, primary amenorrhea, infertility, and groin mass were symptoms described by a 58-year-old woman and his younger sister. Their two aunts, who shared the same clinical traits, passed away for an unknown reason. Results: After gonadectomy, both patients were diagnosed with seminoma and an extratesticular benign tumor, and the elder sister suffered from breast cancer about a year after the operation. The diagnosis of CAIS was verified by whole-exome sequencing (WES), in which an uncommon mutation (c.2197G>A) in the AR gene was identified. Discussion: This is the first family report of CAIS with germ cell tumors. The identified AR gene mutation based on WES can expand the understanding of CAIS.
A "Light Bulb Moment" in Understanding Public Health for Undergraduate Students: Evaluation of the Experiential "This Is Public Health" Photo Essay Task
Authors: Kate Joanne Dundas, Vibeke Hansen, Suzanne Outram, Erica L James
Journal: Front Public Health (2017)
Keywords: assessment, curriculum, experiential learning, public health, teaching, undergraduate

A lack of understanding of the importance of public health both within the community and in the tertiary education setting is a significant impediment to improvement in population health. The international campaign "This is Public Health" (TIPH) has been promoted widely as a strategy to increase community awareness and attract and inspire the next generation of public health professionals. This paper describes and evaluates student perceptions of a TIPH photo essay and reflective task in order to explore the pedagogical and learning outcomes related to undergraduate students' public health knowledge. The aim of the analysis was to understand (1) if the task led to increased awareness of public health, and if so, the process of how an understanding of public health develops, and (2) how the interactive nature of the experiential TIPH task leads to depth of understanding.
Methods:
This study was undertaken at the University of Newcastle (UON), NSW, Australia. A qualitative study design using a descriptive case study methodology was employed. One-hundred and thirty-nine undergraduate students taking part in a semester-long, introductory public health course provided informed consent and completed a TIPH photo essay and reflective task as a compulsory assessment. Analysis of the student reflections was performed using a general inductive approach to qualitative thematic analysis.
Results and discussion:
Analysis of the reflections indicated that completion of the photo essay and reflective task revealed two strong thematic clusters each with a number of subthemes. The most important findings were the six strong data clusters around students' new and deeper understanding of Public Health. Additionally, four separate data clusters around the pedagogy of the task were revealed. The task also impacted beyond knowledge improvement and academic performance. Students alluded to an increased appreciation of their own health, a new recognition of the importance of preventative health measures, and an improved analytical awareness of health determinants and the measures in place to protect health.
Conclusion:
The TIPH photo essay and reflective task was successful in providing undergraduate students with an experiential activity that resulted in increased knowledge and understanding of public health strategies. The task was a valuable pedagogical experience.
Hepatic epithelioid hemangioendothelioma: A great mimicker
Authors: Antoni Llueca, Dolors Piquer, Yasmine Maazouzi, Carmen Medina, Katty Delgado, Anna Serra, Javier Escrig
Journal: Int J Surg Case Rep (2018)
Keywords: adnexal mass, advanced ovarian cancer, epithelioid hemangioendothelioma, fibroid, hepatic lesion, liver

Introduction:
Epithelioid hemangioendothelioma is a malignant mesenchymal tumor of unknown etiology. They tend to be asymptomatic or with non-specific symptoms. The lesion is usually multiple and variable size.
Presentation of case:
We describe a clinical case of a 23-years-old patient diagnosed with a pelvic mass, a possible uterine fibroid or adnexal mass, and multiple liver lesions that seemed an advanced ovarian cancer presentation and after liver biopsy turned out to be a hepatic epithelioid hemangioendothelioma.
Discussion:
It may be confused with a metastatic process in diagnostic imaging. There have been described some possible risk factors but the etiology remains unknown. The prognosis is usually lethal in 50% of cases. The surgical removal of the lesion and liver transplant appear to be the only hope for these patients.
Conclusion:
Epithelioid hemangioendothelioma must be part of our differential diagnosis when we find a liver tumour, especially in young women. Treatment is excision of the tumour in limited disease. In the case of unresectable disease are candidates for liver transplantation.
Acute nontraumatic torticollis in a patient with right lower quadrant pain: case report
Authors: Faik Yaylak, Sezgin Zeren, Zülfü Bayhan, Refik Bademci, Cigdem Devir
Journal: Pan Afr Med J (2015)
Keywords: right lower quadrant pain, acute appendicitis, preoperative evaluation, torticollis
MeSH terms: Abdominal Pain / etiology, Metoclopramide / administration & dosage, Torticollis / diagnosis, Case Reports, Acute Disease, Adolescent, Humans, Male, Metoclopramide

Right lower quadrant pain is one of the most common symptoms of the emergency patients. For accurate diagnosis and treatment; the patients must be questioned and examined very well. Also accompanying conditions due to right lower quadrant pain may be noticed. In this case presentation, we discussed a patient who was presented with right lower quadrant pain and cervical dystonia. By limiting the usage of metoclopramide the patient was followed seamlessly. In this case presentation we want to accentuate that a patient who with abdominal pain may be presented with rare symptoms such of dystonia. In such conditions a detailed anamnesis and physical examination are the first steps of the evaluation to prevent potential hazardous outcomes. In particular, a surgeon must be always carefully while taking history and examining the patient.
A PAX-8-Positive Female Urethral Adenocarcinoma, Intestinal-Type: A Case Report with Diagnostic Challenges and a Review of the Literature
Authors: Mary M Torrez, Frances M Alba, Jain Zhou
Journal: Case Rep Pathol (2023)
MeSH terms: Case Reports

Female urethral adenocarcinoma (FUA) is extremely rare. It is an aggressive malignancy, and clear cell and columnar/mucinous ("intestinal") represent the two primary histologic subtypes. Diagnosis is often delayed in patients because of their vague symptomatology; hence, they present with an advanced disease and a poor prognosis. The rarity of FUA brings challenges when determining treatment and management, and treatment guidelines for various stages are lacking. We report an intestinal-type FUA that developed from inflammation-related metaplasia in urethral diverticulum with positive paired box 8 (PAX-8) staining. In addition to intestinal-type FUA being extremely rare, this particular entity exhibiting PAX-8 positivity has not been previously described, to the author's best knowledge. The present report highlights the importance of clinical and radiological assessment as well as histomorphologic and immunophenotypic features for an accurate diagnosis of this rare and aggressive malignancy.
Case Report: Bullous Pemphigoid Associated With Morphea and Lichen Sclerosus: Coincidental Diseases or Pathogenetic Association?
Authors: Roberto Maglie, Maria Efenesia Baffa, Francesca Montefusco, Carlo Pipitò, Stefano Senatore, Marco Capassoni, Vincenza Maio, Marco Matucci Cerinic, Emiliano Antiga, Serena Guiducci
Journal: Front Immunol (2022)
Keywords: bp180, autoantigen, bullous pemphigoid, lichen sclerosus, morphea
MeSH terms: Autoimmune Diseases / complications, Lichen Sclerosus et Atrophicus / complications, Pemphigoid, Bullous / complications, Scleroderma, Localized / complications, Case Reports, Review, Autoantibodies, Female, Humans, Immunoglobulin G, Autoantibodies, Immunoglobulin G

Bullous pemphigoid (BP) represents the most common autoimmune bullous disease and is characterized by IgG autoantibodies targeting collagen XVII (BP180). BP has reportedly been occurred in association with other inflammatory skin diseases. Here, we describe the unusual occurrence of BP in a female patient with a concomitant history of generalized morphea (localized scleroderma, LoS) and cutaneous and genital lichen sclerosus (LiS). The occurrence of BP was associated with elevated serum levels of anti-BP180 IgG autoantibodies, which decreased upon clinical remission. Autoimmune bullous diseases and sclerosing dermatitis are immunologically distinct entities, whose association has been rarely described. In this study, we provide a literature review on cases of BP developed in patients with either LoS or LiS. Further, we discussed immunological mechanisms which may have favored the emergence of BP in our patient.
Whole genome and whole transcriptome genomic profiling of a metastatic eccrine porocarcinoma
Authors: My Linh Thibodeau, Melika Bonakdar, Eric Zhao, Karen L Mungall, Caralyn Reisle, Wei Zhang, Morgan H Bye, Nina Thiessen, Dustin Bleile, Andrew J Mungall, Yussanne P Ma, Martin R Jones, Daniel J Renouf, Howard J Lim, Stephen Yip, Tony Ng, Cheryl Ho, Janessa Laskin, Marco A Marra, Kasmintan A Schrader, Steven J M Jones
Journal: NPJ Precis Oncol (2018)
MeSH terms: Case Reports

Eccrine porocarcinomas (EPs) are rare malignant tumours of the intraepidermic sweat gland duct and most often arise from benign eccrine poromas. Some recurrent somatic genomic events have been identified in these malignancies, but very little is known about the complexity of their molecular pathophysiology. We describe the whole genome and whole transcriptome genomic profiling of a metastatic EP in a 66-year-old male patient with a previous history of localized porocarcinoma of the scalp. Whole genome and whole transcriptome genomic profiling was performed on the metastatic EP. Whole genome sequencing was performed on blood-derived DNA in order to allow a comparison between germline and somatic events. We found somatic copy losses of several tumour suppressor genes including APC, PTEN and CDKN2A, CDKN2B and CDKN1A. We identified a somatic hemizygous CDKN2A pathogenic splice site variant. De novo transcriptome assembly revealed abnormal splicing of CDKN2A p14ARF and p16INK4a. Elevated expression of oncogenes EGFR and NOTCH1 was noted and no somatic mutations were found in these genes. Wnt pathway somatic alterations were also observed. In conclusion, our results suggest that the molecular pathophysiology of malignant EP features high complexity and subtle interactions of multiple key genes. Cell cycle dysregulation and CDKN2A loss of function was found to be a new potential driver in EP tumourigenesis. Moreover, the combination of somatic copy number variants and abnormal gene expression perhaps partly related to epigenetic mechanisms, all likely contribute to the development of this rare malignancy in our patient.
R Inguinal/R Scrotum Extramammary Paget's Disease with Diffuse Spine Metastasis Complicated by Microangiopathic Hemolytic Anemia
Authors: Alay Mansurov, Eric Christenson
Journal: Case Rep Hematol (2018)
MeSH terms: Case Reports

A 47-year-old male presented with a groin lesion in 2011. Initial treatment with antifungals and vinegar was unsuccessful. In 2016, biopsy of this lesion was pursued with diagnosis of extramammary Paget's disease (EMPD). Prior to the scheduled excision, he developed constant lower back pain with radiation to his lower extremities. MRI confirmed vertebral metastasis. Despite surgical and radiation therapy, his back pain progressed, and repeat imaging showed epidural spread of tumor in the thoracic spine. Later, the patient was admitted to the hospital due to severe anemia and thrombocytopenia. Further work-up confirmed the diagnosis of microangiopathic hemolytic anemia (MAHA). As we know, there are only few reports of spinal metastases in patients with EMPD. To the best of our knowledge, this is the first case report of EMPD complicated by MAHA.
Primary myxoid chondrosarcoma of the breast
Authors: A Farahat, N Magdy, A Elaffandi
Journal: Ann R Coll Surg Engl (2014)
MeSH terms: Bone Neoplasms / pathology, Breast Neoplasms / pathology, Chondrosarcoma / pathology, Case Reports, Adult, Bone Neoplasms / surgery, Breast Neoplasms / surgery, Chondrosarcoma / surgery, Diagnosis, Differential, Female, Humans, Phyllodes Tumor / pathology

Primary breast chondrosarcoma has been rarely reported in the literature. Conservative breast surgery has never been part of the management of previously reported cases. Surgery remains the mainstay management of such a disease as it is resistant to chemotherapy and radiotherapy. In this report, we present a case of rare primary myxoid chondrosarcoma of the breast that was managed successfully with a conservative approach.
Abnormalities of Thyroid Hormone Metabolism during Systemic Illness: The Low T3 Syndrome in Different Clinical Settings
Authors: Arnaldo Moura Neto, Denise Engelbrecht Zantut-Wittmann
Journal: Int J Endocrinol (2016)
MeSH terms: Review

Thyroid hormone abnormalities are common in critically ill patients. For over three decades, a mild form of these abnormalities has been described in patients with several diseases under outpatient care. These alterations in thyroid hormone economy are a part of the nonthyroidal illness and keep an important relationship with prognosis in most cases. The main feature of this syndrome is a fall in free triiodothyronine (T3) levels with normal thyrotropin (TSH). Free thyroxin (T4) and reverse T3 levels vary according to the underlying disease. The importance of recognizing this condition in such patients is evident to physicians practicing in a variety of specialties, especially general medicine, to avoid misdiagnosing the much more common primary thyroid dysfunctions and indicating treatments that are often not beneficial. This review focuses on the most common chronic diseases already known to present with alterations in serum thyroid hormone levels. A short review of the common pathophysiology of the nonthyroidal illness is followed by the clinical and laboratorial presentation in each condition. Finally, a clinical case vignette and a brief summary on the evidence about treatment of the nonthyroidal illness and on the future research topics to be addressed are presented.
Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager
Authors: Siqi Cheng, Weihong Chen, Mingmin Zhao, Xing Xing, Lei Zhao, Bowen Ren, Na Li
Journal: Front Genet (2022)
Keywords: cblc defect, mmachc, case report, depression, genotype–phenotype correlation
MeSH terms: Case Reports

Background: The cobalamin C (cblC) defect, a common inborn disorder of cobalamin metabolism due to a genetic mutation in MMACHC, can cause combined methylmalonic acid and homocysteine accumulation in blood, urine, or both. In this article, a late-onset case was reported, and the patient first presented with depression identified with the MMACHC gene. We summarized the clinical features of the cblC defect, the relationship between genotype and phenotype, and the clinical experience concerning the diagnosis and treatment of the cblC defect. Case presentation: Initially presented with depression, the 16-year-old female patient showed progressive abnormal gait and bilateral lower limb weakness after 3 months. Blood routine examination suggested severe hyperhomocysteinemia, and screening for urine organic acids found elevated methylmalonic acid. Family gene sequencing showed mutations detected in MMACHC. She had a compound heterozygous mutation, while the c.271dupA (p.R91Kfs∗14) was only detected in her father and the c.482 G>A (p.R161Q) was only detected in her mother. Hence, she was diagnosed with a cblC defect and treated with B vitamin supplements. The muscle strength of both lower limbs improved notably. Conclusion: This case indicated that depression could be a presenting sign of cblC-type methylmalonic aciduria and homocysteinemia, and enhanced the genotype-phenotype relationship of the cblC defect, which will contribute to further understanding of this emerging disease.
Uterine torsion in twin pregnancy with complete bicorporeal uterus, double cervix, longitudinal non-obstructing vaginal septum - a case report
Authors: Qianqian Gao, Jinqiu Xiong, Yuchun Zhu
Journal: Front Surg (2023)
Keywords: case report, complete bicorporeal uterus, surgery, twin pregnancy, uterine torsion
MeSH terms: Case Reports

Even though uterine torsion is a rare obstetric complication in humans, it has been linked to severe complications like placental abruption, uterine rupture, foetal bradycardia, or even death. Here, we present a rare case of maternal shortening and prolonged foetal bradycardia. The patient suffered from congenital malformations of the female genital tract, which were classified as a complete bicorporeal uterus, a double "normal" cervix, and a longitudinal non-obstructing vaginal septum (U3b/C2/V1). The patient had an emergency caesarean section due to suspected placental abruption. Uterine torsion was found during the surgery, and the postoperative recovery was good. Obstetricians should be aware of the possibility of uterine torsion as a complication of pregnancy to avoid a delayed diagnosis of uterine torsion, especially in patients with genital malformations. During the surgery, there could be serious damage to blood vessels and tissues around the uterus due to an unclear surgical field, and difficulties in exposing the uterine body should be considered.
An Adult with a Remnant Urachus Anomaly Diagnosed in the Emergency Department
Authors: Alan Lucerna, James Lee, James Espinosa, Risha Hertz, Victor Scali
Journal: Case Rep Emerg Med (2018)
MeSH terms: Case Reports

The urachus is a midline tubular structure that stretches from the apex of the bladder and connects to the umbilicus. Urachal remnants result from incomplete regression of the fetal urachus in infancy. We report the case of a 21-year-old male who presented to the emergency department with purulent drainage from his umbilicus in association with a chronic intermittent "pulling sensation" in the umbilicus and suprapubic areas. An infected urachal remnant was diagnosed and was treated with an oral antibiotic and ultimately with outpatient excision of the remnant. Such cases are rare but have the potential to progress to sepsis. In addition, chronic inflammation can lead to neoplastic transformation (adenocarcinoma). Urachal remnant infections can be considered in adults with umbilical purulent drainage. We propose that the "pulling sensation" described may be a clue to the diagnosis in some patients in which the urachal remnant is attached to the bladder and that the sensation was due to the mechanical connection between the bladder and the umbilicus. The sensation resolved postremoval status of the remnant. This does not appear to have been previously proposed in the literature.
Case report: Creutzfeldt-Jakob disease presenting with anxiety symptoms in a COVID-19 post-infection patient
Authors: Christl S K Yong, Ethan Jian-Hui Maniam, Cheryl W L Chang, Jonathan Yexian Lai, Cyrus Su Hui Ho
Journal: Front Neurol (2023)
Keywords: covid-19, creutzfeldt-jakob disease, anxiety, case report, inflammation
MeSH terms: Case Reports

Creutzfeldt-Jakob Disease (CJD) is a rare, rapidly progressive, and fatal neurodegenerative disorder. We describe a man whose initial manifestations of CJD occurred shortly after contracting Coronavirus disease 2019 (COVID-19). He first developed anxiety and short-term memory loss a few weeks after a mild COVID-19 infection. He subsequently developed parkinsonism, eventually progressed to akinetic mutism, and passed away 5 months after symptom onset. This case highlights a potential temporal relationship between COVID-19 infection and the onset of neurodegenerative symptoms. Microglia and astrocytes in the central nervous system (CNS) and 'S1' spike proteins on SARS-CoV-2 are potential mediators in neuroinflammation and neurodegeneration.
Application of the oblique lateral interbody fusion technique in salvage surgery: technical note and case series
Authors: Jialuo Han, Shuo Han, Shengwei Meng, Xiaodan Zhao, Hao Zhang, Jianwei Guo, Derong Xu, Houchen Liu, Mingrui Chen, Xuexiao Ma, Yan Wang
Journal: Front Surg (2023)
Keywords: olif25, olif51, adjacent vertebral disease, failed posterior interbody fusion surgery, oblique lateral interbody fusion, salvage surgery, technical note

Objective:
The oblique lateral interbody fusion (OLIF) technique is a promising interbody fusion technique. This study summarizes the technical aspects of OLIF as a salvage surgery and the preliminary outcomes of a series of cases.
Patients and methods:
A retrospective review of patients with leg or back pain induced by pseudoarthrosis or adjacent segment disease after posterior lumbar interbody fusion/transforaminal lumbar interbody fusion was done. These patients underwent salvage OLIF surgeries in our institution from January 2021 to March 2022. Variables such as the demographic, clinical, surgical, and radiological characteristics of the enrolled patients were recorded and analyzed.
Results:
Eight patients (five females and three males; mean age 69.1 ± 5.7 years, range 63-80 years) were enrolled in this study. The mean operative time was 286.25 min (range: 230-440 min), and the estimated blood loss was 90 ml (range: 50-150 ml). Only one of the eight patients experienced a complication of lower limb motor weakness, which disappeared within 5 days after surgery. The latest data showed that the mean intervertebral space height increased from 8.36 mm preoperatively to 12.70 mm and the mean segmentary lordosis increased from 8.92° preoperatively to 15.05°. Bone fusion was achieved in all but one patient, who was followed up for only 3 months. The JOA scores Japanese Orthopaedic Association (JOA) Scores for low back pain of all patients significantly improved at the final follow-up.
Conclusion:
OLIF provides a safe and effective salvage strategy for patients with failed posterior intervertebral fusion surgery. Patients effectively recovered intervertebral and foraminal height with no additional posterior direct decompression.