OpenMed/multicare-articles huggingface dataset:
Case report: Late middle-aged features of FAM111A variant, Kenny-Caffey syndrome type 2-suggestive symptoms during a long follow-up
Authors: Yuka Ohmachi, Shin Urai, Hironori Bando, Jun Yokoi, Masaaki Yamamoto, Keitaro Kanie, Yuma Motomura, Yasutaka Tsujimoto, Yuriko Sasaki, Yuka Oi, Naoki Yamamoto, Masaki Suzuki, Hiroki Shichi, Genzo Iguchi, Natsumi Uehara, Hidenori Fukuoka, Wataru Ogawa
Journal: Front Endocrinol (Lausanne) (2023)
Keywords: fam111a, kenny-caffey syndrome type 2, hypoparathyroidism, sensorineural hearing loss, short stature
MeSH terms: Dwarfism, Hyperostosis, Cortical, Congenital / genetics, Hypoparathyroidism, Review, Case Reports, Child, Female, Follow-Up Studies, Humans, Middle Aged, Receptors, Virus / genetics, FAM111A protein, human, Receptors, Virus, Kenny-Caffey syndrome, type 2

Kenny-Caffey syndrome type 2 (KCS2) is an extremely rare skeletal disorder involving hypoparathyroidism and short stature. It has an autosomal dominant pattern of inheritance and is caused by variants in the FAM111 trypsin-like peptidase A (FAM111A) gene. This disease is often difficult to diagnose due to a wide range of more common diseases manifesting hypoparathyroidism and short stature. Herein, we present the case of a 56-year-old female patient with idiopathic hypoparathyroidism and a short stature. The patient was treated for these conditions during childhood. Upon re-evaluating the etiology of KCS2, we suspected that the patient had the disorder because of clinical manifestations, such as cortical thickening and medullary stenosis of the bones, and lack of intellectual abnormalities. Genetic testing identified a heterozygous missense variant in the FAM111A gene (p.R569H). Interestingly, the patient also had bilateral sensorineural hearing loss and vestibular dysfunction, which have been rarely described in previous reports of pediatric cases. In KCS2, inner ear dysfunction due to Eustachian tube dysfunction may progress in middle age or later. However, this disease is now being reported in younger patients. Nevertheless, our case may be instructive of how such cases emerge chronically after middle age. Herein, we also provide a literature review of KCS2.
A case of masked toxic adenoma in a patient with non-thyroidal illness
Authors: Eun Ae Cho, Jee Hee Yoon, Hee Kyung Kim, Ho-Cheol Kang
Journal: BMC Endocr Disord (2014)

Background:
Non-thyroidal illness (NTI) refers to changes in thyroid hormone levels in critically ill patients in the absence of primary hypothalamic-pituitary-thyroid dysfunction, and these abnormalities usually resolve after clinical recovery. However, NTI can be accompanied by primary thyroid dysfunction. We report herein a case of a woman with NTI accompanied by primary hyperthyroidism.
Case presentation:
A 52-year-old female was admitted to the intensive care unit with heart failure and atrial fibrillation. She had a longstanding thyroid nodule, and a thyroid function test revealed low levels of triiodothyronine and free thyroxine as well as undetectable thyroid stimulating hormone (TSH). She was diagnosed with NTI, and her TSH level began to recover but not completely at discharge. The thyroid function test was repeated after 42 months to reveal primary hyperthyroidism, and a thyroid scan confirmed a toxic nodule.
Conclusion:
This case suggests that although NTI was diagnosed, primary hyperthyroidism should be considered as another possible diagnosis if TSH is undetectable. Thyroid function tests should be repeated after clinical recovery from acute illness.
Stomach metastasis in a patient with prostate cancer 4 years after the initial diagnosis: a case report and a literature review
Authors: Ahmet Bilici, Mustafa Dikilitas, Ozlem Ton Eryilmaz, Bekir Selim Bagli, Fatih Selcukbiricik
Journal: Case Rep Oncol Med (2012)

Prostate cancer commonly metastasizes bones and lymph nodes, but it very rarely spreads to the gastrointestinal tract. However, only five cases of prostate cancer metastatic to the stomach have been previously reported in the literature. We report a case of a 69-year-old man with metastatic prostate cancer who presented with upper gastrointestinal bleeding (UGB) 4 years after the diagnosis. Esophagogastroscopy revealed multiple ulcerations in the gastric body and histopathological examination confirmed gastric metastasis that originated from prostate cancer. Chemotherapy could not be given because of patient's refusal. He was treated with LHRH agonist. We suggest that for a man with prostate cancer diagnosed with UGB, stomach metastasis should be considered in the differential diagnosis of UGB.
Case Report: Borderline tumor and primary peritoneal carcinoma - a rare synchronism
Authors: Mariana Rei, Sofia Raposo, Paulo Figueiredo, Rita Sousa, Luís Sá
Journal: F1000Res (2019)
Keywords: borderline tumor, high grade serous carcinoma, low grade serous carcinoma, ovarian neoplasm, peritoneal neoplasm
MeSH terms: Cystadenocarcinoma, Serous / diagnosis, Ovarian Neoplasms / diagnosis, Peritoneal Neoplasms / diagnosis, Case Reports, Female, Humans, Middle Aged

Ovarian borderline serous tumors present with peritoneal involvement in 20% of cases, either as non-invasive or invasive implants, the latter also known as extraovarian low-grade serous carcinoma. The coexistence of high-grade serous carcinoma is rare, suggesting a synchronous neoplasia with a distinct and independent tumor biology and behavior. We aim to describe a case of a synchronous ovary-peritoneum neoplasia: serous borderline tumor and primary peritoneal high-grade serous carcinoma. A discussion and literature review concerning the optimal diagnostic and therapeutic approach is provided.
Primary synovial sarcoma of the mediastinum : a case report
Authors: Gayatri Ravikumar, Shalini Mullick, Anuradha Ananthamurthy, Marjorie Correa
Journal: Case Rep Surg (2011)
MeSH terms: Case Reports

Synovial sarcomas commonly occur in the extremities of young adults. A primary occurrence in the mediastinum is very rare with only a few reported cases in the world literature. This paper is about a 42-year-old male who presented with chest pain and dyspnoea on exertion. Imaging showed an anterior mediastinal mass with adhesions to the lung. Pathological examination of the resected mass showed a biphasic neoplasm with a spindle cell component admixed with gland-like elements. The tumour showed positive staining with cytokeratin, epithelial membrane antigen, and Bcl-2 confirming the diagnosis of a biphasic synovial sarcoma. A wide range of neoplasms, both primary and metastatic, occur in the mediastinum, which pose considerable diagnostic difficulties. A synovial sarcoma should always be considered in the differential diagnosis, and immunohistochemistry is an important adjuvant tool in this situation. This paper highlights the importance of recognizing an unusual presentation of this aggressive neoplasm to aid appropriate clinical management.
Successful Surgical Management of Locally Advanced Renal Cell Carcinoma Invading Spleen and Pancreas
Authors: Mohamed Sharafeldeen, Vahid Mehrnoush, Asmaa Ismail, Ahmed Zakaria, Hazem Elmansy, Walid Shahrour, Owen Prowse, Ahmed Kotb
Journal: J Kidney Cancer VHL (2022)
Keywords: rcc, nephrectomy, pancreatectomy, splenectomy
MeSH terms: Case Reports

Over the last two decades, the treatment of metastatic RCC has changed significantly, and the role of surgery is being debated. A 50-year-old man presented with pain in his left loin. An ultrasound, followed by a CT scan, revealed a 17.5 cm left renal mass invading the left suprarenal gland, spleen, and pancreatic tail. Radical nephrectomy through chevron incision under epidural block with general anesthesia was performed. The entire mass was removed en bloc. The estimated blood loss was 300 mL, and no blood transfusions were performed. The operation took approximately 2 h. Histological examination revealed clear cell renal carcinoma with extension into the spleen, pancreatic tail, and diaphragmatic fibers with negative resection margin. The patient discharged after a 3-day uneventful hospital stay. Aggressive surgical removal of a locally invasive renal cell carcinoma is feasible and should be considered in patients with good performance status and no or minimal distant metastases.
Delayed diagnosis of lymph node tuberculosis: time-honored importance of a thorough clinical examination, Cameroon
Authors: Tanyi John Tanyi, Julius Atashili
Journal: Pan Afr Med J (2015)
Keywords: history taking, diagnosis, lymph node, physical examination, resource-limited settings
MeSH terms: Diagnostic Tests, Routine / methods, Physical Examination / methods, Tuberculosis, Lymph Node / diagnosis, Case Reports, Adult, Cameroon, Cost-Benefit Analysis, Delayed Diagnosis, Diagnostic Tests, Routine / economics, Humans, Male

History taking and physical examination is the cornerstone of medical diagnosis as will lead to correct diagnosis 90% of the time. We report a case of a 30-year-old black African man with lymph node tuberculosis diagnosed one year and six months later after onset of symptoms and signs. Clinicians especially those in resource-limited settings should go in for thorough history taking and complete physical examination which is the basis for correct clinical diagnosis, will provide valuable guide in deciding which tests to order and thus laboratory tests done for confirmatory purposes and also, has a cost-effective benefit for the patient.
Intravascular Large B-Cell Lymphoma in Acute Hypoxic Respiratory Failure
Authors: Kei Yanagisawa, Akiko Kameyama, Hiroshi Miyama, Koutarou Mori, Masao Hattori, Hiroshi Imamura, Kenichi Nitta
Journal: Case Rep Crit Care (2023)
MeSH terms: Case Reports

Intravascular large B-cell lymphoma, an extranodal large B-cell lymphoma, is a rare hematological malignancy with only a few reports of lung involvement. We report a case of intravascular large B-cell lymphoma with acute hypoxic respiratory failure and interstitial lung disease diagnosed via random skin biopsies. A 54-year-old woman presented with fever, cough, and dyspnea. Computed tomography imaging revealed findings concerning interstitial lung disease. The patient's respiratory status worsened despite the treatment with antibiotics and steroids. Generalized edema and thrombocytopenia also developed. Intravascular large B-cell lymphoma was clinically suspected and ultimately diagnosed by skin biopsy, although she had no apparent skin lesions. The patient's condition considerably improved after chemotherapy. Intravascular large B-cell lymphoma should be considered in patients with acute respiratory failure and interstitial lung lesions.
Case Report: Histopathology and Prion Protein Molecular Properties in Inherited Prion Disease With a De Novo Seven-Octapeptide Repeat Insertion
Authors: Ignazio Cali, Laura Cracco, Dario Saracino, Rossana Occhipinti, Cinzia Coppola, Brian Stephen Appleby, Gianfranco Puoti
Journal: Front Cell Neurosci (2020)
Keywords: prion protein (prp), conformation, genetic, histopathology, insertion mutation

The insertion of additional 168 base pair containing seven octapeptide repeats in the prion protein (PrP) gene region spanning residues 51-91 is associated with inherited prion disease. In 2008, we reported the clinical features of a novel de novo seven-octapeptide repeat insertion (7-OPRI) mutation coupled with codon 129 methionine (M) homozygosity in the PrP gene of a 19-year-old man presenting with psychosis and atypical dementia, and 16-year survival. Here, we describe the histopathological and PrP molecular properties in the autopsied brain of this patient. Histopathological examination revealed widespread brain atrophy, focal spongiform degeneration (SD), cortical PrP plaques, and elongated PrP formations in the cerebellum. Overall, these histopathological features resemble those described in a Belgian pedigree with 7-OPRI mutation except for the presence of PrP plaques in our case, which are morphologically different from the multicore plaques described in some OPRI mutations and in Gerstmann-Sträussler-Scheinker (GSS) syndrome. The comparative characterization of the detergent-soluble and detergent-insoluble PrP in our patient and in sporadic Creutzfeldt-Jakob disease (CJD) revealed distinct molecular signatures. Proteinase K digestion of the pathogenic, disease-associated PrP (PrPD) revealed PrPD type 1 in the cerebral cortex and mixed PrPD types 1 and 2 in the cerebellum. Altogether, the present study outlines the importance of assessing the phenotypical and PrP biochemical properties of these rare conditions, thereby widening the spectrum of the phenotypic heterogeneity of the 7-OPRI insertion mutations. Further studies are needed to determine whether distinct conformers of PrPD are associated with two major clinico-histopathological phenotypes in prion disease with 7-OPRI.
Case report: Primary hepatocellular carcinoma with portal vein tumor thrombus characterized by active tumor immune microenvironment achieving a complete response following treatment of combined immunotherapy
Authors: Kaihang Zhong, Yuyan Xu, Yuan Cheng, Yaohong Wen, Lei Cai, Guolin He, Huakun Huang, Shunjun Fu, Xuefeng Zhong, Yating Zheng, Tingting Chen, Mengli Huang, Mingxin Pan
Journal: Front Immunol (2022)
Keywords: combined immunotherapy, hepatocellular carcinoma (hcc), portal vein tumor thrombus (pvtt), tertiary lymphoid structure (tls), tumor immune microenvironment (time)
MeSH terms: Carcinoma, Hepatocellular / complications, Carcinoma, Hepatocellular / pathology, Carcinoma, Hepatocellular / therapy, Liver Neoplasms / complications, Liver Neoplasms / pathology, Liver Neoplasms / therapy, Thrombosis / pathology, Case Reports, Research Support, Non-U.S. Gov't, Humans, Immunotherapy, Middle Aged, Portal Vein / pathology, Sorafenib / therapeutic use, Tumor Microenvironment, Sorafenib

Portal vein tumor thrombus (PVTT) is a frequent complication in hepatocellular carcinoma (HCC). HCC patients with PVTT have the characteristics of less treatment tolerance and poor prognosis. Immunotherapy, especially combined immunotherapy, has been successfully used in advanced HCC. However, there are no recognized universally indicators that can predict response or resistance to immunotherapy for HCC. Herein, we reported a 58-year-old HCC patient with PVTT, cirrhosis and chronic viral hepatitis, who achieved complete response (CR) after combined immunotherapy (camrelizumab combined with sorafenib or regorafenib), according to his high enrichment of tumor-infiltrating immune cells and tertiary lymphoid structure (TLS). In this case, we revealed the characteristics of the baseline tumor immune microenvironment (TIME) in a HCC patient who responded well to combined immunotherapy, suggesting that TIME can be used to assist in clinical decision making of immunotherapy for HCC.
Malignant adenomyoepithelioma of the breast: A case report
Authors: Eisa A Lari, Ali A Lari, Talal Alsaeed
Journal: Int J Surg Case Rep (2020)
Keywords: adenomyoepithilioma, breast, malignant, mastectomy, wide local excision
MeSH terms: Case Reports

Introduction:
Malignant breast adenomyoepithelioma (AME) is a rare subtype of breast cancer. AME is mostly a benign disease that uncommonly undergoes malignant transformation.
Presentation of case:
Here we present a case of a young, previously healthy female who initially presented with a painless breast lump. The patient underwent wide local excision for atypical cells with squamous metaplasia by core biopsy, but final histopathology showed AME with carcinoma. Thus, a mastectomy and a sentinel lymph node biopsy was undertaken. The patient had an uneventful recovery and no recurrence after the second surgery.
Discussion and conclusion:
Malignant transformation of adenomyoepithelioma is reported in a small number of cases. Benign AME may be treated with wide local excision as recurrence is rare locally. Whereas malignant AME tends to be treated with simple mastectomy with or without lymph node biopsy.
Squamous cell carcinoma arising in a mature cystic teratoma
Authors: Suna Avcı, Fatih Selcukbiricik, Ahmet Bilici, Gülkan Ozkan, Ayse Ayşim Ozağarı, Fatih Borlu
Journal: Case Rep Obstet Gynecol (2012)

Introduction. Malignant transformation in a mature cystic teratoma of the ovary is a rare complication. Squamous cell carcinoma is the most common transformation. We describe a new case of squamous cell carcinoma arising in a mature cystic teratoma. Case Report. A premenopausal 52-year-old female patient is diagnosed with vaginal bleeding. According to examination made on the women and the pelvic scanning, 7 cm mass is found on the right adnexa of the patient. Total abdominal hysterectomy, bilateral salpingo-oophorectomy, omentectomy, pelvic lymph node dissection, and debulking were the treatments completed on the patient. According to histopathological diagnosis, squamous cell carcinoma arising in a mature cystic teratoma is diagnosed as a reason for the mass in the right adnexa of the patient. Conclusion. The prognosis of the malign transformation of MCT depends on surgery stage; however it is extremely poor. The patient should receive chemotherapy regardless of stage. We have decided to administer second cycle carboplatin and paclitaxel treatments on the patient.
Rhino-Orbital Cerebral Mucormycosis in a Patient With Diabetic Ketoacidosis: A Case Report and Literature Review
Authors: Nan Dong, Ashly E Jordan, Xiaozhu Shen, Xuan Wu, Xianghong Guo, Hongru Zhao, Yajuan Wang, Dapeng Wang, Qi Fang
Journal: Front Neurol (2022)
Keywords: diabetes, ketoacidosis, metagenomics cell-free dna next-generation sequencing, orbital apex syndrome, rhino-orbital cerebral mucormycosis
MeSH terms: Case Reports

Background:
Rhino-orbital cerebral mucormycosis (ROCM) is a rare, invasive, and fatal fungal disease. Due to the lack of specific clinical manifestations and adequate auxiliary examinations, patients are easily misdiagnosed in the early stage. Early diagnosis and timely therapy are essential for successful treatment.
Case report:
We report a 68-year-old man with diabetic ketoacidosis, presented with orbital apex syndrome (OAS), fever, and pansinusitis, which progressively worsened to death only 4 days after admission. It was finally confirmed as a fungal Rhizopus arrhizus infection by metagenomics cell-free DNA next-generation sequencing (mNGS) testing.
Conclusion:
Orbital apex syndrome could be the initial presentation for mucormycosis. Thus, it is necessary to evaluate the presence of mucormycosis in patients with OAS, especially in diabetic or immunosuppressed hosts, and mNGS testing and timely antifungal therapy should be strongly recommended in highly suspected cases.
Ogilvie syndrome: peculiar manifestation of acquired immunodeficiency syndrome in non-institutionalized middle age female in Tanzania
Authors: Ahmed Mussa Jusabani, Mubashir Alavi Jusabani, Dhanji Karsan Patel, Dilipkumar Anant Pradhan, Kaushik Laxmidas Ramaiya, Salim Ramzan Surani
Journal: Pan Afr Med J (2020)
Keywords: ogilvie syndrome, acquired immunodeficiency syndrome, acute colonic, case report, pseudo-obstruction
MeSH terms: Abdomen, Acute / diagnosis, Acquired Immunodeficiency Syndrome / complications, Colonic Pseudo-Obstruction / diagnosis, Case Reports, Abdomen, Acute / etiology, Adult, Colonic Pseudo-Obstruction / etiology, Colonoscopy, Female, Humans, Tanzania, Tomography, X-Ray Computed

Since it was first documented in 1948 by Sir William Heneage Ogilvie, numerous cases of Ogilvie syndrome have been described in literature due to various medical and surgical causes. Nonetheless, only a handful of cases only have been documented due to underlying Acquired Immunodeficiency Syndrome (AIDS). A 41-year-old female was admitted with an acute abdomen secondary to partial mechanical intestinal obstruction or paralytic ileus based on signs and symptoms and Abdominal X-Ray (AXR). She was known to be HIV/AIDS WHO clinical stage II on treatment. On diagnostic imaging studies she had distended large bowels without features of mechanical intestinal obstruction and the diagnosis of Ogilvie syndrome was suspected after other differentials were excluded. Early recognition and appropriate management are essential, because if left untreated the bowel distension may progress to caecal perforation and fatal peritonitis. Medical imaging with Computer Tomography (CT) scan and colonoscopy has helped in achieving an accurate diagnosis and avoiding unnecessary laparotomies. Although an uncommon disorder, for earlier and accurate diagnosis a high index of suspicion is required by clinicians and radiologists who are treating patients with underlying HIV/AIDS. Ogilvie's syndrome is a rare condition and if missed can be fatal. In patients with HIV/AIDS, the symptoms may be directly due to HIV infection, secondary to opportunistic infections or possible neurotoxic effects of HIV treatment or lack of vitamin and minerals. It is important to exclude Ogilvie syndrome in patients from surgical causes of the acute abdomen to avoid unnecessary surgical procedures.
Systematic Evaluation and Meta-Analysis of Randomized Controlled Trials of Fire Needle Combined Phototherapy for the Treatment of Vitiligo
Authors: Huishan Jiang, Xiaohuan Long, Yan Chen, Weiliang Wang
Journal: Biomed Res Int (2022)
MeSH terms: Ultraviolet Therapy / methods, Vitiligo / therapy, Meta-Analysis, Combined Modality Therapy, Humans, Phototherapy, Randomized Controlled Trials as Topic, Skin / pathology, Treatment Outcome

This study investigated the fire needle and phototherapy combination for treating vitiligo through a meta-analysis of the published literature. Indeed, vitiligo is a common chronic skin condition characterized by the appearance of white patches. It is the most prevalent disorder, affecting approximately 1% of the global population. There is no known cure or clinical recommendation for treating vitiligo. The majority of medical guidelines suggest vitiligo treatment with the use of fire needles. Here, vitiligo was treated with a novel mechanism combining a fire needle with phototherapy. The handheld phototherapy devices include a fire needle option for disease treatment. Miniature lesions that could be used to detect and treat vitiligo at an early stage could be managed by hybrid-capable devices. The real-time study included more than 3,435 patients. The dosages were altered to control the adverse effects. Following treatment, granulation tissues developed on the injured skin, diminishing the shallow area and wound surface. The case studies demonstrate that combining phototherapy and fire needle therapy is more practical than the other methods.
Mycoplasma pneumonia with severe cold agglutinin hemolysis, thrombocytosis, leukemoid reaction and acute renal failure
Authors: Johan Widén, Göran Jönsson, Ulf Karlsson
Journal: IDCases (2023)
Keywords: acute kidney failure, cold-agglutinin hemolysis, corticosteroids, leukemoid reaction, mycoplasma pneumoniae
MeSH terms: Case Reports

Mycoplasma pneumoniae (M. pneumoniae) is a common cause of community acquired pneumonia and although most cases are mild, complications sometimes occur. Cold agglutinin hemolysis is a known complication of M. pneumoniae infection, and usually presents as a mild and transient hemolysis. Here we present a case of infection with M. pneumoniae in a 64-year-old male that caused life threatening hemolysis that required multiple blood transfusions. The patient also presented with acute kidney failure and a marked leukemoid reaction and thrombocytosis. This is a very rare combination of symptoms that could have led the clinicians to suspect a more virulent etiology than M. pneumoniae, thereby delaying adequate antibiotic treatment.