OpenMed/multicare-articles huggingface dataset:
Malignant nodular melanoma of the vulva: a rare and aggressive tumour of the female genital tract (case report)
Authors: Moshawa Calvin Khaba, Matsiane Luciah Lekala, Setheme Daniel Mosehle
Journal: Pan Afr Med J (2021)
Keywords: hiv, case report, malignant, metastasis, nodular melanoma
MeSH terms: HIV Infections / complications, Melanoma / diagnosis, Vulvar Neoplasms / diagnosis, Case Reports, Anti-HIV Agents / administration & dosage, Biopsy, Combined Modality Therapy, Female, HIV Infections / drug therapy, Humans, Melanoma / pathology, Melanoma / surgery, Middle Aged, Vulvar Neoplasms / pathology, Vulvar Neoplasms / surgery, Anti-HIV Agents

Malignant melanoma of the vulva is a rare and aggressive tumour with dismal prognosis. It tends to recur and metastasize early. Surgical excision with or without regional lymph node dissection is still the treatment of choice with adjuvant therapy decided on a case by case. Furthermore, HIV infection has been associated with more aggressive disease. Herein we present a 45-year-old HIV-infected female patient on antiretroviral therapy who presented with vulval ulcer for one year. On examination, she had ulcerated nodule on the labia majora. Radiology showed vulvovaginal tumour without involvement of the adjacent organs. Malignant melanoma was confirmed on both the incisional biopsy and vulvectomy. She responded poorly to radiotherapy. Furthermore, she presented with recurrence and metastatic disease a month after surgery. She was lost to follow-up clinic.
Metastasizing tenosynovial giant cell tumour, diffuse type/pigmented villonodular synovitis
Authors: A Righi, M Gambarotti, M Sbaraglia, T Frisoni, D Donati, D Vanel, A P Dei Tos
Journal: Clin Sarcoma Res (2015)
Keywords: diffuse type, lymph node, metastases, tenosynovial giant cell tumor
MeSH terms: Case Reports

Tenosynovial giant cell tumour, diffuse type, also known under a variety of other terms including diffuse pigmented villonodular synovitis, tends to be locally aggressive and not infrequently can show multiple recurrences. The differential diagnosis with the extremely rare and somewhat controversial malignant variant of tenosynovial giant cell tumour, diffuse type, is challenging due to overlapping radiologic features of these two entities. Malignant tenosynovial giant cell tumour is defined by the presence of overtly malignant sarcomatous areas. We describe a very unusual case of a 63-year-old man affected by tenosynovial giant cell tumour, diffuse type of the knee that, despite absence of morphologic evidence of sarcomatous transformation, developed inguinal lymph node metastases following multiple surgical procedures.
Complete genome sequence of Vibrio vulnificus FORC_017 isolated from a patient with a hemorrhagic rash after consuming raw dotted gizzard shad
Authors: Han Young Chung, You-Tae Kim, Suyeon Kim, Eun Jung Na, Hye-Jin Ku, Keun Hwa Lee, Sang Taek Heo, Sangryeol Ryu, Heebal Kim, Sang Ho Choi, Ju-Hoon Lee
Journal: Gut Pathog (2016)
Keywords: genome sequencing, hemolysin, hybrid assembly, pathogenesis, secretion system, vibrio vulnificus, virulence factor
MeSH terms: Case Reports

Background:
Vibrio vulnificus, a resident in the human gut, is frequently found in seafood, causing food-borne illnesses including gastroenteritis and severe septicemia. While V. vulnificus has been known to be one of the major food-borne pathogens, pathogenicity and virulence factors are not fully understood yet. To extend our understanding of the pathogenesis of V. vulnificus at the genomic level, the genome of V. vulnificus FORC_017 isolated from a female patient experiencing a hemorrhagic rash was completely sequenced and analyzed.
Results:
Three discontinuous contigs were generated from a hybrid assembly using Illumina MiSeq and PacBio platforms, revealing that the genome of the FORC_017 consists of two circular chromosomes and a plasmid. Chromosome I consists of 3,253,417-bp (GC content 46.49 %) containing 2943 predicted open reading frames (ORFs) and chromosome II of 1,905,745-bp (GC content 46.90 %) containing 1638 ORFs. The plasmid pFORC17 consists of 70,069-bp (GC content 43.77 %) containing 84 ORFs. The average nucleotide identity (ANI) value of the FORC_017 and CMCP6 strains was 98.53, suggesting that they are closely related.
Conclusions:
Pathogenesis-associated genes including vvhA, rtx gene cluster, and various hemolysin genes were present in FORC_017. In addition, three complete secretion systems (Type I, II and VI) as well as iron uptake-related genes for virulence of the FORC_017 were detected, suggesting that this strain is pathogenic. Further comparative genome analysis revealed that FORC_017 and CMCP6 share major toxin genes including vvhA and rtx for pathogenesis activities. The genome information of the FORC_017 provides novel insights into pathogenicity and virulence factors of V. vulnificus.
Mental disorder or conscious disturbance in epidermal growth factor receptor-tyrosine kinase inhibitor treatment of advanced lung adenocarcinoma
Authors: Jing Zhu, Rui Zhou, Heng Xiao
Journal: EXCLI J (2020)
Keywords: advanced lung adenocarcinoma, conscious disturbance, epidermal growth factor receptor-tyrosine kinase inhibitor, mental disorder
MeSH terms: Case Reports

Epidermal growth factor receptor-tyrosine kinase inhibitors (EGFR-TKIs) are currently recommended by international guidelines as first-line treatment in patients with advanced EGFR-mutant non-small-cell lung cancer. With the availability of drugs, more and more patients choose EGFR-TKI treatment. However, pharmaceutical drugs used in clinical practice have side effects, such as diarrhea, paronychia, and hepatotoxicity. Mental or conscious disturbance has never been reported before. In our clinical center, we found that several patients with advanced lung adenocarcinoma developed a mental disorder or conscious disturbance after EGFR-TKI treatment. This situation has not previously been reported. We conducted a retrospective study of patients with advanced lung adenocarcinoma treated with EGFR-TKI who showed a mental disorder or conscious disturbance. We reported five cases of lung adenocarcinoma who developed a mental disorder or conscious disturbance after treatment with EGFR-TKI. The main clinical symptoms of these patients were sluggishness, memory deterioration, cognitive disorder, and even hallucination. Brain magnetic resonance imaging showed increased ischemic foci and lacunar infarction, worse encephalatrophy, and demyelination after EGFR-TKI therapy. These psychiatric symptoms did not improve but worsened after taking antipsychotic drugs, suggesting that they were irreversible. The neuropsychiatric symptoms in EGFR-TKI treatment must be considered, and the underlying reason warrants further study.
PET/CT Imaging in Oncology: Exceptions That Prove the Rule
Authors: M Casali, A Froio, C Carbonelli, A Versari
Journal: Case Rep Oncol Med (2013)

(18)F-FDG PET/CT is a diagnostic three-dimensional non-invasive device, routinely employed in neurology, cardiology, and oncology, and which contributes to patient care giving functional informations about glucose metabolism. In particular, staging, restaging, follow-up and response to treatment of tumors are the most common applications in oncologic field. Many neoplasms show increased glucose metabolism and consequent (18)F-FDG uptake. Nevertheless, some relative differentiated cancers, such as clear cell carcinoma of the kidney and bronchioloalveolar adenocarcinoma, show tipically faintly/no uptake resulting in a consequent negative PET/CT scan. This case report represents an extreme case in which three relative well-differentiated cancer forms, all characterized by low glucose metabolism, affect the same patient at the same time while (18)F-FDG PET/CT scan is negative.
Endourologic Diagnosis and Robotic Treatment of a Giant Fibroepithelial Polyp of the Ureter
Authors: Francesco Cattaneo, Fabio Zattoni, Luca Meggiato, Claudio Valotto, Fabrizio Dal Moro, Marina Paola Gardiman, Paolo Beltrami, Filiberto Zattoni
Journal: J Endourol Case Rep (2016)
Keywords: endourology, fibroepithelial polyp, robot-assisted laparoscopy, ureteropelvic junction obstruction
MeSH terms: Case Reports

Background: Fibroepithelial polyps (FEPs) are a rare cause of ureteropelvic junction (UPJ) obstruction. Radiologists and urologists are not always confident with this disease because of its rarity, complex diagnosis, and heterogeneity of the available treatment options. Case Presentation: We present the endourologic diagnosis and the robotic management of a ureteral polyp close to the left UPJ. A 16-year-old woman with a 12 years history of left lumbar pain was referred to our Center. A computed tomography scan detected a left hydronephrosis with no signs of obstructions at MAG-3 scintigraphy. The endourologic evaluation revealed a giant FEP of the left ureter, which was removed surgically with a videolaparoscopic robot-assisted approach. Conclusion: Considering that conventional radiologic imaging techniques can hardly detect a ureteral FEP, an endourologic study of the urinary tract is mandatory to directly observe the polyp. The mini-invasive treatment of ureteral FEPs is feasible and safe, and should be considered as first option in young patients.
A Novel Mutation in the VPS13B Gene in a Cohen Syndrome Patient with Positive Antiphospholipid Antibodies
Authors: Roghayeh Dehghan, Mahdiyeh Behnam, Alireza Moafi, Mansoor Salehi
Journal: Case Reports Immunol (2021)
MeSH terms: Case Reports

Cohen syndrome is an autosomal recessive disorder with the primary symptoms of mental deficiency, progressive retinopathy, hypotonia, microcephaly, obesity of midchildhood onset, intermittent neutropenia, and dysmorphic facial features. The syndrome has high phenotypic heterogeneity and is caused by loss-of-function mutations in the VPS13B gene. Here, we introduce a novel homozygous nonsense mutation (c.8698G > T, p.E2900X) in the VPS13B gene in an 11-year-old Iranian boy with major symptoms of Cohen syndrome. He also had mild anemia accompanied by positive antiphospholipid antibodies, the latter has never been previously reported in Cohen syndrome.
A Putative Case of Methotrexate-Related Lymphoma: Clinical Course and PET/CT Findings
Authors: Rachel C Jankowitz, James Ganon, Todd Blodgett, Christine Garcia, Samuel Jacobs
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

Patients with autoimmune conditions develop lymphoproliferative disorders (LPDs) at a higher frequency than normal both in association with and independent of Methotrexate (MTX). We describe a case of MTX-associated lymphoma in a patient with psoriasis on long-standing MTX. The case is notable for the initial tumor burden, the dramatic disappearance of the PET-CT findings on discontinuation of MTX, and the subsequent early regrowth of disease. Our case report is illustrative of an MTX-related NHL in an autoimmune patient. Conclusion. Withdrawal of MTX in a patient with lymphoma is reasonable before initiating chemotherapy, but observation for early regrowth of disease is necessary.
Postcoital internal carotid artery dissection presenting as isolated painful horner syndrome: a case report
Authors: Eren Gozke, Hilal Tastekin Toz, Pınar Kahraman Koytak, Funda Alparslan
Journal: Case Rep Neurol Med (2013)

Postcoital artery dissection is a rare condition. Here we report a 40-year-old male patient with painful Horner syndrome related to postcoital internal carotid artery (ICA) dissection. In neurologic examination of the patient, semiptosis, enophthalmus, and myosis were observed on the left side. There were no carotid bruits. On T1-weighted and fat-suppressed cranial MRI, hyperintensity consistent with intramural hematoma was observed within cervical and temporal petrous segments of left ICA. On cervical and cranial MRA, marked decrease in the calibration of C1 and C2 segments of the left ICA was remarkable. The patient was diagnosed as left ICA dissection and anticoagulant therapy was initiated. A prominent improvement was noted in clinical findings during two months of followup period.
Comparison of Human Oocyte Activation Between Round-Headed Sperm Injection Followed by Calcium Ionophore Treatment and Normal Sperm Injection in a Patient With Globozoospermia
Authors: Xiangli Niu, Qiuyan Ruan, Craig A Witz, Weihua Wang
Journal: Front Endocrinol (Lausanne) (2020)
Keywords: artificial oocyte activation, calcium ionophore, globozoospermia, human, oocyte
MeSH terms: Calcium Ionophores / pharmacology, In Vitro Oocyte Maturation Techniques / methods, Infertility, Male / therapy, Oocytes / drug effects, Sperm Injections, Intracytoplasmic / methods, Teratozoospermia / therapy, Case Reports, Adult, Calcium Ionophores / therapeutic use, Cells, Cultured, Family Characteristics, Female, Humans, Infant, Newborn, Infertility, Male / pathology, Male, Oocytes / cytology, Oocytes / physiology, Oogenesis / drug effects, Oogenesis / physiology, Pregnancy, Spermatozoa / pathology, Teratozoospermia / pathology, Tissue Donors, Treatment Outcome, Calcium Ionophores

Fertilization failure is common in patients with round-headed sperm, a form of globozoospermia. Artificial oocyte activation is able to assist oocyte fertilization after sperm injection in these patients. Comparisons between oocyte fertilization with or without calcium ionophore have been reported in patients with round-headed sperm. However, no comparison has been reported between round-headed sperm injection followed by calcium ionophone activation and normal sperm injection. In this case report, half of oocytes from a patient were injected with her partner's round-headed sperm followed by calcium ionophore activation, and the other half of oocytes were injected with a donor sperm without calcium ionophore activation. The injected oocytes were cultured to examine fertilization, embryo development, and embryonic aneuploidies in the resulting blastocysts. The fertilization rate was lower in round-headed sperm injected oocytes (3/6) than that in donor sperm injected oocytes (5/6), but rates of blastocyst and aneuploidies were similar in the resulting embryos between the two groups. A euploid blastocyst resulted from round-headed sperm injection was transferred, and a healthy baby was delivered. These results indicate that calcium ionophore treatment can assist oocyte activation in patients with round-headed sperm, but its efficiency to activate oocytes is lower than that induced by a normal sperm injection. However, embryo development and chromosome integrity may not be affected by calcium ionophore treatment.
Can Vitamin D Therapy Contribute to the Conservative Resolution of Osteolytic Lesions of the Jaws?
Authors: Kamis Gaballah, Sami Kenz, Raeefa Anis, Omar Kujan
Journal: Case Rep Dent (2021)
MeSH terms: Case Reports

Osteolytic lesions of the jaw are not uncommon. Such lesions usually arise from local pathologies, but some have systemic backgrounds. We describe a 12-year-old girl who presented with an asymptomatic left mandibular swelling. The bony swelling was corresponding to a radiolucent lesion in the left premolar/molar region. This lesion could have represented an inflammatory and developmental odontogenic jaw cyst, giant cell lesion, and odontogenic tumor. However, the workup investigations revealed secondary hyperparathyroidism due to vitamin D deficiency. A vitamin D replacement was initiated with a single I.M. injection of 300,000 I.U followed by 10,000 I.U orally, weekly. Six weeks later, her Vitamin D and parathyroid hormone were normalized, and she showed significant clinical and radiological improvement of the jaw lesion. At 18 months, follow-up the panoramic image revealed complete resolution of the radiolucency and stable normal parathyroid hormone and vitamin D levels. In conclusion, Jaw bone lesions can develop secondary to hyperparathyroidism due to vitamin D deficiency, and this should be ruled out before any surgical intervention. Treatment of such lesions lies in the correction of parathyroid excess with a careful and systematic approach. This may prevent unnecessary surgical intervention in such patients.
Intranodal Palisaded Myofibroblastoma in a Submandibular Lymph Node
Authors: Leila Bouhajja, Raja Jouini, Olfa Khayat, Wafa Koubâa, Chiraz Mbarek, Ehsen Ben Brahim, Achraf Chedly-Debbiche
Journal: Case Rep Otolaryngol (2017)
MeSH terms: Case Reports

Intranodal palisaded myofibroblastoma (IPM), also known as "intranodal hemorrhagic spindle cell tumor with amianthoid fibers," is a rare benign mesenchymal tumor originating from smooth muscle cells and myofibroblasts, often with the presence of amianthoid fibers. Usually IPM affects inguinal lymph nodes, but three cases have been described in the submandibular and cervical lymph nodes. We report a new case of a 44-year-old women with submandibular mass. Cervical ultrasound showed a suspect right submandibular adenomegaly. The patient underwent an excision of the submandibular mass. Histological features of the tumor include an encapsulated fusocellular proliferation, with nuclear palisading, amianthoid fibers, hemosiderin pigment, and extravasated erythrocytes. In the light of these results, we made the diagnosis of IPM. No recurrence was found 5 years after surgery.
Fertility Preservation for Adolescent and Young Adult Transmen: A Case Series and Insights on Oocyte Cryopreservation
Authors: Francesca Barrett, Jacquelyn Shaw, Jennifer K Blakemore, Mary Elizabeth Fino
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: adolescent and young adult (aya), adolescent reproductive health, fertility, fertility preservation, oocyte cryopreservation, transgender
MeSH terms: Fertility Preservation / methods, Adolescent, Cryopreservation / methods, Humans, Oocyte Retrieval / methods, Oocytes, Testosterone, Young Adult, Testosterone

Background:
The opportunity for fertility preservation in adolescent and young adult (AYA) transmen is growing. Many AYA transmen desire future biologic children and are interested in ways to preserve fertility through oocyte cryopreservation prior to full gender affirmation, yet utilization of oocyte cryopreservation remains low. Additionally, standard practice guidelines currently do not exist for the provision of oocyte cryopreservation to AYA transmen. Our objective was to review our experience with oocyte cryopreservation in adolescent and young adult transmen in order to synthesize lessons regarding referral patterns, utilization, and oocyte cryopreservation outcomes as well as best practices to establish treatment guidance.
Methods:
This is a case series of all AYA transmen (aged 10 to 25 years) who contacted, consulted or underwent oocyte cryopreservation at a single high volume New York City based academic fertility center between 2009 and 2021.
Results:
Forty-four adolescent and young adult transmen made contact to the fertility center over the study period. Eighty percent (35/44) had a consultation with a Reproductive and Endocrinology specialist, with a median age of 16 years (range 10 to 24 years) at consultation. The majority were testosterone-naive (71%, 25/35), and had not pursued gender affirming surgery (86%, 30/35). Expedited initiation of testosterone remained the most commonly cited goal (86%, 30/35). Fifty-seven percent (20/35) pursued oocyte cryopreservation. Ninety-five percent (19/20) underwent successful transvaginal oocyte aspiration, with a median of 22 oocytes retrieved and 15 mature oocytes cryopreserved. There were no significant adverse events. At time of review, no patient has returned to utilize their cryopreserved oocytes.
Conclusions:
Oocyte cryopreservation is a safe fertility preservation option in AYA transmen and is an important aspect of providing comprehensive transgender care. Insights from referral patterns, utilization, and oocyte cryopreservation outcomes from a single center's experience with adolescent and young adult transmen can be integrated to identify lessons learned with the goal of providing transparency surrounding the oocyte cryopreservation process, improving the education and comfort of patients and providers with fertility preservation, and easing the decision to pursue an oocyte cryopreservation cycle in parallel to gender-affirmatory care.
Dramatic response to neoadjuvant savolitinib in marginally resectable lung adenocarcinoma with MET exon 14 skipping mutation: A case report and literature review
Authors: Jiangfang Tian, Zhen Lin, Yueyun Chen, Yang Fu, Zhenyu Ding
Journal: Front Oncol (2022)
Keywords: met exon 14 skipping mutation (metex14), nsclc, case report, major pathological response, neoadjuvant therapy, savolitinib
MeSH terms: Case Reports

Mesenchymal-epithelial transition (MET) exon 14 skipping mutation (METex14) is a low-frequency driver mutation in metastatic non-small cell lung cancer (NSCLC) (3%-4%) and is associated with a poor prognosis. With the advent of selective MET inhibitors such as capmatinib, tepotinib, and savolitinib, the outcome for these patients was significantly improved. Here, we report a 76-year-old male patient with marginally resectable stage IIIB lung adenocarcinoma harboring METex14 who was successfully treated with savolitinib for neoadjuvant therapy. An 82% shrinkage of the primary tumor was observed, and only 5% of the tumor was viable by pathology in the following radical surgery. A dozen of studies tested the efficiency of neoadjuvant immunotherapy or immunochemotherapy, but for NSCLC with driver mutations, neoadjuvant targeted therapy might be more appropriate. We advocated the neoadjuvant MET TKI treatment for NSCLC.
Spontaneous Remission in Paroxysmal Nocturnal Hemoglobinuria-Return to Health or Transition Into Malignancy?
Authors: Eva-Stina Korkama, Anna-Elina Armstrong, Hanna Jarva, Seppo Meri
Journal: Front Immunol (2018)
Keywords: aplastic anemia, leukemia, paroxysmal nocturnal hemoglobinuria, spontaneous remission
MeSH terms: Hemoglobinuria, Paroxysmal / complications, Hemoglobinuria, Paroxysmal / physiopathology, Leukemia / etiology, Case Reports, Research Support, Non-U.S. Gov't, Adult, Anemia, Aplastic / complications, Bone Marrow / physiopathology, CD59 Antigens / deficiency, Clone Cells / metabolism, Cohort Studies, Fatal Outcome, Female, Finland, Flow Cytometry, Follow-Up Studies, Hemoglobinuria, Paroxysmal / immunology, Hospitals, University, Humans, Male, Middle Aged, Remission, Spontaneous, Young Adult, CD59 Antigens, CD59 protein, human

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired syndrome characterized by intravascular hemolysis, thrombosis, and bone marrow failure. The disease is caused by a mutation in the PIG-A gene that leads to the lack of glycosylphosphatidylinositol-anchored complement regulatory molecules CD55 and CD59 on affected blood cell surfaces. In previous studies, spontaneous clinical remissions have been described. The disease manifestations are very heterogeneous, and we wanted to examine if true remissions and disappearance of the clone occur. In a follow-up of a nation-wide cohort of 106 Finnish patients with a PNH clone, we found six cases, where the clone disappeared or was clearly diminished. Two of the patients subsequently developed leukemia, while the other four are healthy and in clinical remission. According to our data, spontaneous remissions are not as frequent as described earlier. Since the disappearance of the PNH cell clone may indicate either a favorable or a poor outcome-remission or malignancy-careful clinical monitoring in PNH is mandatory. Nevertheless, true remissions occur, and further studies are needed to understand the immunological background of this phenomenon and to obtain a better understanding of the natural history of the disease.