OpenMed/multicare-articles huggingface dataset:
Invasive breast cancer following bilateral subcutaneous mastectomy in a BRCA2 mutation carrier: a case report and review of the literature
Authors: Lidia Kasprzak, Benoit Mesurolle, Francine Tremblay, Maria Galvez, Fawaz Halwani, William D Foulkes
Journal: World J Surg Oncol (2005)

Background:
Primary prevention of breast cancer through prophylactic mastectomy can reduce the risk of malignancy in high-risk individuals. No type of mastectomy completely removes all breast tissue, but a subcutaneous mastectomy leaves more tissue in situ than does a simple mastectomy.
Case presentation:
We report a case of invasive breast cancer in a BRCA2-positive woman 33 years after bilateral subcutaneous mastectomy. To our knowledge, only one case of primary breast cancer after prophylactic mastectomy in a BRCA1-positive patient has been reported in the literature and none in BRCA2-positive individuals.
Conclusion:
Careful documentation and long follow-up is essential to fully assess the benefits and risks of preventive surgical procedures in BRCA1 and BRCA2 mutation carriers.
Acute kidney injury induced by thrombotic microangiopathy in a patient with hemophagocytic lymphohistiocytosis
Authors: Myoung Nam Bae, Dae Hun Kwak, Se Jun Park, Bum Soon Choi, Cheol Whee Park, Yeong Jin Choi, Jong Wook Lee, Chul Woo Yang, Yong-Soo Kim, Byung Ha Chung
Journal: BMC Nephrol (2016)
MeSH terms: Acute Kidney Injury / etiology, Kidney Tubules / pathology, Lymphohistiocytosis, Hemophagocytic / complications, Thrombotic Microangiopathies / complications, Case Reports, Female, Humans, Middle Aged, Necrosis / etiology

Background:
Hemophagocytic lymphohistiocytosis (HLH) is a fatal clinical syndrome characterized by excessive immune activation and inflammation. It is frequently complicated by acute kidney injury (AKI) that often develops as acute tubular necrosis (ATN). Meanwhile, renal thrombotic microangiopathy (TMA) is a rare pathologic finding that mostly occurs in hemolytic uremic syndrome or thrombotic thrombocytopenic purpura. There are only few reports on TMA developing in patients with HLH. We present here a rare case of TMA associated HLH.
Case presentation:
A 60-year-old woman was admitted for a fever of unknown origin that had persisted for several weeks. She presented with AKI and pancytopenia. Clinical, laboratory and bone marrow biopsy findings met the criteria of HLH. Kidney biopsy showed TMA and minimal ATN, which suggested that the primary cause of AKI was TMA in this case. Because of sustained oliguria, we initiated hemodialysis (HD) and also decided to use chemotherapy composed of dexamethasone, etoposide and cyclosporine for treatment of HLH. Six months after the initiation of chemotherapy, pancytopenia was completely resolved, indicating the resolution of HLH. At the same time, serum creatinine decreased to a normal range without the need for HD, suggesting the resolution of TMA.
Conclusion:
We report a case of renal TMA associated HLH. This case suggests that renal TMA should be considered as a primary cause of AKI in patients with underlying HLH.
Advanced mucinous colorectal carcinoma in a 14-year old male child: A case report and review of the literature
Authors: Alex Mremi, James J Yahaya
Journal: Int J Surg Case Rep (2020)
Keywords: child, mucinous colorectal cancer, poor prognosis
MeSH terms: Case Reports

Introduction:
ColorectaI carcinoma is extremely rare in children and presents with a poor prognosis.
Presentation of case:
The present report describes the case of a 14-year old male child who presented with complaints of general weakness and recurrent abdominal pain, caused by a mucinous adenocarcinoma of the transverse colon (Dukes stage which was inoperable.
Discussion:
Mucinous histopathological type is the most common type with increased ability to invade the adjacent stromal tissue. This biological behaviour has been reported to be attributable to its aggressive behaviour. Additionally, delay of diagnosis of colorectal carcinoma in children accounts for the advanced disease at diagnosis.
Conclusion:
Colorectal carcinoma occurring in both children and adolescents usually have poor prognosis because of not having specific symptoms which contributes to delay of diagnosis. Mimicking of its symptoms with other non-malignant conditions such as intestinal obstruction and acute appendicitis also has been found to contribute to delay of diagnosis as it was in our present case.
Severe Liver Injury Secondary to COVID-19-Induced Rhabdomyolysis in McArdle Disease
Authors: Ana P Urena Neme, Carol Fernandez Hazim, Gustavo Duarte, Michael Victoria Guerrero, Miguel A Rodriguez Guerra
Journal: Cureus (2023)
Keywords: acute liver failure (alf), aki outcome, covid 19, glycogen storage disorder, mcardle disease, rhabdomyolysis, sars covid-19
MeSH terms: Case Reports

Severe liver injury is an uncommon condition caused by non-traumatic rhabdomyolysis. This rare correlation is more commonly seen in the aspartate aminotransferase (AST) than in the alanine transaminase (ALT) level elevation. We report a case of a 27-year-old male with a history of McArdle disease who presented with generalized muscle aches associated with dark urine. His workup showed SARS-CoV-2 positive, severe rhabdomyolysis (creatinine kinase [CK] > 40000 U/L) and acute kidney injury (AKI) followed by severe liver injury (AST/ALT: 2122/383 U/L). He was started on aggressive intravenous hydration. After multiple boluses, he became overloaded, fluids were re-adjusted and continued, his renal function, CK, and liver enzymes improved, and the patient was discharged; during his visit at the post-discharge, the patient was asymptomatic and no clinical or laboratory abnormalities were found. The glycogen storage diseases are challenging, but prompt and accurate assessment is determinant in recognizing potential life-threatening complications of SARS-CoV-2. The failure to identify complicated rhabdomyolysis could lead to the patient's rapid deterioration, ending in multiorgan failure.
Diagnostic Difficulties in Pathological Laboratories in Developing Countries: A Case Report of Differentiated Squamous Cell Carcinoma in a Young Togolese Woman
Authors: Tchin Darré, Lantam Sonhaye, Mazamaesso Tchaou, Abdoul-Samadou Aboubakari, Bingo K M'Bortche, Kofi Amégbor, Gado Napo-Koura
Journal: Case Rep Pathol (2016)

We report a case of poorly differentiated squamous cell carcinoma of the vulva induced by human papillomavirus in a 23-year-old woman, in whom we experienced diagnostic difficulties.
Perivascular epithelioid cell tumor outgrowth from the liver
Authors: Mahir Kirnap, Gonca Ozgun, Gokhan Moray, Mehmet Haberal
Journal: Int J Surg Case Rep (2018)
Keywords: liver, mesenchymal neoplasia, pecoma, surgery

Introduction:
Perivascular epithelioid celltumor (PEComa) is a rare mesenchymal neoplasia and can be found in various body sites. On the other hand, hepatic PEComa is very rare, with only a few studies having reported hepatic malignant PEComa. There is no gold standard regarding the use of diagnostic imaging studies. The diagnosis of hepatic PEComa is made by a positive immunohistochemical staining for HMB45 and Melan A. Herein, we discussed the therapeutic and follow-up process of a symptomatic hepatic PEComa case.
Presentation of case:
A 22-year-old woman presented with a palpable mass in abdomen. A computerized tomographic examination showed a giant hepatic mass of left lobe origin, which was excised surgically. The pathology result was reported as a PEComa.
Discussion:
The diagnostic approach, treatment modalities, and follow-up procedures are not standard. The main treatment modality for PEComa is surgical excision with adequate surgical margin.
Conclusion:
A longer follow-up is required for patients with hepatic PEComa because the nature of the disease is not entirely clear.
A Case Report of Prilocaine-Induced Methemoglobinemia after Liposuction Procedure
Authors: Birdal Yildirim, Ulku Karagoz, Ethem Acar, Halil Beydilli, Emine Nese Yeniceri, Ozgur Tanriverdi, Omer Dogan Alatas, Şükrü Kasap
Journal: Case Rep Emerg Med (2015)

Prilocaine-induced methemoglobinemia is a rarely seen condition. In this paper, a case is presented with methemoglobinemia developed secondary to prilocaine use in a liposuction procedure, and the importance of this rarely seen condition is emphasized. A 20-year-old female patient presented with complaints of prostration, lassitude, shivering, shortness of breath, and cyanosis. It was learned that the patient underwent nearly 1000 mg prilocaine infiltration 8 hours priorly during a liposuction procedure. At admission, her blood pressure (130/80 mmHg), pulse rate (140 bpm), body temperature (36°C), and respiratory rate (40/min) were recorded. The patient had marked acrocyanosis. The arterial blood gas methemoglobin level was measured as 40%. The patient received oxygen therapy with a mask and was administered vitamin C in normal saline (500 mg tid), N-acetylcysteine (300 mg tid), and 50 mg 10% methylene blue in the intensive care unit of the internal medicine department. Methemoglobin level dropped down to 2% after her treatment with methylene blue and she was clinically cured and discharged 2 days later. Emergency service physicians should remember to consider methemoglobinemia when making a differential diagnosis between dyspnea and cyanosis developing after prilocaine infiltration performed for liposuctions in the adult age group.
Bullosis diabeticorum as a differential diagnosis for limb ulcers: case report
Authors: Vinicius Tadeu Ramos da Silva Grillo, Mayra Souza Botelho, Eloana Pasqualin Lange, Murilo Sgarbi Secanho, Paula Angeleli Bueno de Camargo, Hélio Amante Miot
Journal: J Vasc Bras (2022)
Keywords: blister, bullosis diabeticorum, case report, diabetes complications, skin ulcer
MeSH terms: Case Reports

Bullosis diabeticorum (BD) is an uncommon cutaneous manifestation of diabetes that can affect the upper limbs. It is characterized by spontaneous and painless non-inflammatory bloody blisters, which can progress to necrosis, requiring differential diagnosis to rule out other dermatological diseases, such as porphyria cutanea tarda, pseudoporphyria, epidermolysis bullosa acquisita, and pemphigoid, and vascular diseases, such as vasculitis, peripheral arterial disease, and Buerger's disease, among others. In this report, we describe a 77-year-old male patient with poorly controlled diabetes and hypertension who presented with spontaneous onset of lesions on the upper limbs, initially with bullous characteristics, progressing to necrotic ulcers after spontaneous rupture. A biopsy revealed hyaline thickening of the dermal vessels and subcorneal bullae, consistent with a diagnosis of BD. After smoking cessation and optimization of glycemia control combined with topical corticosteroid therapy, the condition improved and lesions began to heal. This presentation of BD involving the upper limbs is rare, requiring differential diagnosis to rule out other cutaneous and vascular lesions.
Delayed retroperitoneal arterial hemorrhage after inferior vena cava filter deployment: A case report
Authors: Yongzheng Wang, Haiyang Chang, Wujie Wang, Wei Wang, Bin Liu, Zheng Li, Yuliang Li
Journal: Medicine (Baltimore) (2018)
MeSH terms: Arteries / injuries, Hemorrhage / etiology, Intraoperative Complications / etiology, Vena Cava Filters / adverse effects, Case Reports, Female, Humans, Middle Aged, Pulmonary Embolism / surgery, Retroperitoneal Space, Time Factors

Rationale:
Pulmonary embolization is a life-threatening condition. The deployment of inferior vena cava (IVC) filter is the first choice for preventing embolus from the lower extremity. However, IVC filter complications are rare but not to be neglected. Penetration of the arterial wall may result in catastrophic damages. This case report describes a woman who suffered from retroperitoneal hemorrhage after placement of an IVC filter due to a pulmonary embolization. Her filter was found to have penetrated the right lumbar artery and caused the massive bleeding. She was successfully treated with endovascular coil embolization.
Patient concerns:
A 47-year old woman presenting with pulmonary embolization was admitted to our hospital. An IVC filter was deployed. Twenty days after her operation, she suffered from an intolerable lumbago when bending over. Contrast-enhanced computed tomography at the local hospital showed a massive retroperitoneal hematoma adjacent to the IVC filter.
Diagnoses:
Contrast-enhanced CT at the local hospital showed a massive retroperitoneal hematoma adjacent to the IVC filter. Thereafter, she was transferred to our hospital. Her hemoglobin and INR were 7.1 g/dl and 3.4, respectively. Her systolic blood pressure decreased to 70 mmHg with heart rate increasing to 110 beats/min. The shock index was greater than 1.5.
Interventions:
Angiography of the abdominal aorta showed extravasation of contrast medium from the right third lumbar artery. Embolization of the lumbar arteries was performed with coils.
Outcomes:
Several days later, she recovered with hematoma shrinking in size and was discharged from the hospital with stable condition.
Lessons:
It highlights that appropriate monitoring of patients with IVC filters is an essential part during the long-term management. Endovascular treatment showed a safe and effective way to treat arterial perforation caused by hooks of inferior vena cava filters.
Unusual Presentation with Orbital Mass in a Child with Precursor B-Cell Acute Lymphoblastic Leukemia
Authors: Lalita Sathitsamitphong, Rungrote Natesirinilkul, Worawut Choeyprasert, Pimlak Charoenkwan
Journal: Case Rep Hematol (2019)
MeSH terms: Case Reports

Orbital involvement is one of the extramedullary manifestations in acute leukemia. It is common in acute myeloid leukemia, but rare in acute lymphoblastic leukemia (ALL). We described a 3-year-old girl who presented with progressive proptosis of the right eye and was later diagnosed with precursor B-cell ALL. Initial blood count showed Hb 6.9 g/dL, WBC 42,000/mm3, lymphoblast 50%, and platelet count 185,000/mm3. Bone marrow aspiration revealed 90% lymphoblasts with positivity for CD10, CD19, CD20, CD22, and HLA-DR markers. Computed tomography (CT) scan of the brain and orbit revealed a homogeneous enhancing mass involving the right orbit with intracranial extension. The cytogenetic study showed 46,XX chromosomes. After 4 weeks of induction chemotherapy for very high-risk ALL, although the bone marrow was in remission, the proptosis was partially resolved. CT scan confirmed a decrease in size of the right orbital mass and degree of intracranial extension. Unfortunately, the patient abandoned the treatment after the induction chemotherapy. The actual incidence of orbital involvement in ALL is unknown. Previous case reports describe diverse manifestations of orbital involvement in ALL. The involvement may be unilateral or bilateral, may occur at first diagnosis or at relapse, and may be seen in isolation or with other systemic symptoms. There is no standard treatment protocol. Chemotherapy with or without radiotherapy is generally suggested. The role of upfront hematopoietic stem cell transplantation remains inconclusive. The previously reported prognosis of ALL with orbital involvement is poor.
Targeted treatment in a case series of AR+, HRAS/PIK3CA co-mutated salivary duct carcinoma
Authors: Damian T Rieke, Sebastian Schröder, Philippe Schafhausen, Eric Blanc, Erika Zuljan, Benjamin von der Emde, Dieter Beule, Ulrich Keller, Ulrich Keilholz, Konrad Klinghammer
Journal: Front Oncol (2023)
Keywords: head and neck cancer, molecular tumor board, precision oncology, salivary duct carcinoma, salivary gland cancer, targeted therapy

Background and purpose:
A subgroup of salivary duct carcinoma (SDC) harbor overexpression of the androgen receptor (AR), and co-occurring mutations in the HRAS- and PIK3CA-genes. The impact of genomic complexity on targeted treatment strategies in advanced cancer is unknown.
Materials and methods:
We analyzed molecular and clinical data from an institutional molecular tumor board (MTB) to identify AR+, HRAS/PIK3CA co-mutated SDC. Follow-up was performed within the MTB registrational study or retrospective chart review after approval by the local ethics committee. Response was assessed by the investigator. A systematic literature search was performed in MEDLINE to identify additional clinically annotated cases.
Results:
4 patients with AR+ HRAS/PIK3CA co-mutated SDC and clinical follow-up data were identified from the MTB. An additional 9 patients with clinical follow-up were identified from the literature. In addition to AR overexpression and HRAS and PIK3CA-alterations, PD-L1 expression and Tumor Mutational Burden > 10 Mutations per Megabase were identified as additional potentially targetable alterations. Among evaluable patients, androgen deprivation therapy (ADT) was initiated in 7 patients (1 Partial Response (PR), 2 Stable Disease (SD), 3 Progressive Disease (PD), 2 not evaluable), tipifarnib was initiated in 6 patients (1 PR, 4 SD, 1 PD). One patient each was treated with immune checkpoint inhibition (Mixed Response) and combination therapies of tipifarnib and ADT (SD) and alpelisib and ADT (PR).
Conclusion:
Available data further support comprehensive molecular profiling of SDC. Combination therapies, PI3K-inhibitors and immune therapy warrant further investigation, ideally in clinical trials. Future research should consider this rare subgroup of SDC.
Cryptococcal osteomyelitis in the ribs
Authors: Somika Sethi
Journal: J Glob Infect Dis (2010)
Keywords: cryptococcus, immunocompetent, osteomyelitis
MeSH terms: Case Reports

Isolated cryptococcal osteomyelitis, in an immunocompetent, is rare and only a few cases have been reported in literature. We present the case of a 30-year-old man presented with pain on the left side of chest with fever and gradually increasing swelling in left lateral lower aspect of chest. Investigation revealed a lytic lesion in the anterior end of left 6(th) rib with normal CD4 count. He was tested negative for HIV antigen. Excision of the sixth rib, morphologically revealed cryptococcal osteomyelitis and the patient was given anti-fungal treatment for six months.
A Paratesticular Angiolipoma: A Case Report of a Rare Benign Scrotal Mass and Review of Literature
Authors: Mohamed Ali Nouioui, Tarek Taktak, Seif Mokadem, Faten Gargouri, Houssem Mediouni, Ramzi Khiari, Samir Ghozzi
Journal: Case Rep Urol (2019)
MeSH terms: Case Reports

We report a rare case of paratesticular angiolipoma in a young male. The patient is a 21-year-old male who presented with a palpable firm right intrascrotal mass of 21 mm. Ultrasound findings demonstrated that it is a solid mass. Under the diagnosis of an intrascrotal solid mass, a right inguinal radical orchiectomy was performed. Histopathological examination concluded to a paratesticular angiolipoma. Angiolipoma is a rare benign form of paratesticular tumour and its diagnosis is based on histological findings of the surgical specimen with no recurrence risk. This mesenchymal tumour should be distinguished from liposarcoma, which has malignant or aggressive clinical course.
Novel HYDIN variants associated with male infertility in two Chinese families
Authors: Hui Yu, Xiao Shi, Zhongmei Shao, Hao Geng, Senzhao Guo, Kuokuo Li, Meng Gu, Chuan Xu, Yang Gao, Qing Tan, Zongliu Duan, Huan Wu, Rong Hua, Rui Guo, Zhaolian Wei, Ping Zhou, Yunxia Cao, Xiaojin He, Liang Li, Xiaoping Zhang, Mingrong Lv
Journal: Front Endocrinol (Lausanne) (2023)
Keywords: hydin, icsi, acrosome, asthenoteratozoospermia, male infertility, whole-exome sequencing
MeSH terms: Asthenozoospermia / genetics, Infertility, Male / genetics, Case Reports, Research Support, Non-U.S. Gov't, East Asian People, Female, Humans, Male, Pregnancy, Proteins, Semen, Spermatozoa, Proteins

Introduction:
Infertility is a major disease affecting human life and health, among which male factors account for about half. Asthenoteratozoospermia accounts for the majority of male infertility. High-throughput sequencing techniques have identified numerous variants in genes responsible for asthenoteratozoospermia; however, its etiology still needs to be studied.
Method:
In this study, we performed whole-exome sequencing on samples from 375 patients with asthenoteratozoospermia and identified two HYDIN compound heterozygous variants, a primary ciliary dyskinesia (PCD)-associated gene, in two unrelated subjects. H&E staining, SEM were employed to analyze the varies on sperm of patients, further, TEM was employed to determine the ultrastructure defects. And westernblot and immunostaining were chose to evaluate the variation of structural protein. ICSI was applied to assist the mutational patient to achieve offspring.
Result:
We identified two HYDIN compound heterozygous variants. Patient AY078 had novel compound heterozygous splice variants (c.5969-2A>G, c.6316+1G>A), altering the consensus splice acceptor site of HYDIN. He was diagnosed with male infertility and PCD, presenting with decreased sperm progressive motility and morphological abnormalities, and bronchial dilatation in the inferior lobe. Compared to the fertile control, HYDIN levels, acrosome and centrosome markers (ACTL7A, ACROSIN, PLCζ1, and Centrin1), and flagella components (TOMM20, SEPT4, SPEF2, SPAG6, and RSPHs) were significantly reduced in HYDIN-deficient patients. Using intracytoplasmic sperm injection (ICSI), the patient successfully achieved clinical pregnancy. AY079 had deleterious compound heterozygous missense variants, c.9507C>G (p. Asn3169Lys) and c.14081G>A (p. Arg4694His), presenting with infertility; however, semen samples and PCD examination were unavailable.
Discussion:
Our findings provide the first evidence that the loss of HYDIN function causes asthenoteratozoospermia presenting with various defects in the flagella structure and the disassembly of the acrosome and neck. Additionally, ICSI could rescue this failure of insemination caused by immobile and malformed sperm induced by HYDIN deficiency.
A rare malignant thyroid carcinosarcoma with aggressive behavior and DICER1 gene mutation: a case report with literature review
Authors: Jing Yang, Carmen Sarita-Reyes, David Kindelberger, Qing Zhao
Journal: Thyroid Res (2018)
Keywords: biphasic tumor, carcinosarcoma, dicer1 mutation, lung metastasis, thyroid
MeSH terms: Case Reports

Background:
Malignant biphasic tumor also known as carcinosarcoma is an uncommon neoplasm that is composed of both malignant epithelial and mesenchymal components. Most reported cases of carcinosarcoma affect the female genital tract; however, other sites including head and neck, lung, and breast have been described. Carcinosarcoma of the thyroid is an extremely rare and aggressive malignancy with an ominous clinical course similar to anaplastic carcinoma.
Case presentation:
We report a case of a 45-year-old female who was found to have a biphasic thyroid carcinosarcoma. Her clinical course declined significantly shortly after she underwent a total thyroidectomy and she developed distant metastases to the lungs. Histopathological features of the primary and metastatic tumor were identical. The tumor is composed of an intimately intermixed epithelial component of poorly differentiated follicular thyroid carcinoma and a spindle cell sarcoma with rhabdomyosarcoma differentiation. Molecular analysis using a next-generation sequencing based assay revealed a DICER1 (E1705K) point mutation in neoplastic cells.
Conclusion:
To our knowledge, the E1705K point mutation within the DICER1 gene is the first reported mutation in carcinosarcoma of the thyroid. A comprehensive review of the relevant literature is also included for discussion.