OpenMed/multicare-articles huggingface dataset:
VEGFR Inhibitors for Uterine Metastatic Perivascular Epithelioid Tumors (PEComa) Resistant to mTOR Inhibitors. A Case Report and Review of Literature
Authors: Aikaterini Liapi, Patrice Mathevet, Fernanda G Herrera, Delfyne Hastir, Apostolos Sarivalasis
Journal: Front Oncol (2021)
Keywords: pecoma, vegfr, mtor, second line, soft tissue sarcomas, uterine perivascular epithelioid cell tumor
MeSH terms: Review

Uterine perivascular epithelioid cell tumors (PEComas) are rare neoplasms. PI3K/AKT/mTOR pathway upregulation is critical for their pathogenesis and is often associated with TSC1/TSC2 inactivation. Although first line mTOR inhibitors are an effective treatment, metastatic PEComas eventually progress. A 53-year-old woman presented a 4-month history of post-menopausal vaginal bleeding. Clinical and radiological examination detected a uterine mass and a single S1 bone lesion. The patient underwent a radical hysterectomy and bone biopsy. The anatomopathological evaluation concluded to an oligo-metastatic uterine PEComa. The tumor harbored a heterozygous deletion of 9q34 that contains the TSC1 gene. Concerning the primary lesion, the resection was complete and the single bone metastasis was treated with radiotherapy. Three months later, the patient presented bone, lung and subcutaneous metastatic progression. An everolimus and denosumab treatment was initiated. After 2 years of treatment, a clinically significant bone, lung and subcutaneous progression was detected. Following a literature review of the possible therapeutic options, we initiated a second line treatment by pazopanib. This treatment resulted in regression of the subcutaneous lesions and stability of lung and bone metastases. In this challenging, rare setting, our report suggests single agent, anti-angiogenic, tyrosine kinase inhibitor to be effective as second line treatment of metastatic uterine PEComa progressing on mTOR inhibitors.
A Case Report of Parry-Romberg Syndrome Misdiagnosed as Multiple Sclerosis
Authors: Ling Long, Zhuang Kang, Shaoqiong Chen, Chunping Cui, Xuejiao Men, Wei Qiu
Journal: Front Neurol (2020)
Keywords: mri, parry-romberg syndrome, autoimmune, mechanism, multiple sclerosis
MeSH terms: Case Reports

Background: Parry-Romberg syndrome (PRS) is a rare disease that causes hemiatrophy of the face. The pathophysiological mechanisms involved in its etiology are unknown, but several previous reports suggest the involvement of autoimmune factors. Herein we describe the case of a patient with PRS who was initially misdiagnosed as having multiple sclerosis (MS). The relevant literature is briefly reviewed, and some previous reports suggesting associations between PRS and autoimmunity are discussed. Case Presentation: A 34-year-old man presented with recurrent paroxysmal weakness of the right hand, a 3-years history of unilateral tinnitus, and headache for 6 months. MS was initially diagnosed but the patient was subsequently diagnosed as having PRS on the basis of clinical manifestations and radiological findings. Conclusions: PRS may be associated with autoimmune pathogenesis, but the present case does not support that theory.
Successful Allogeneic Hematopoietic Stem Cell Transplantation of a Patient Suffering from Type II Congenital Dyserythropoietic Anemia A Rare Case Report from Western India
Authors: Gaurang Modi, Sandip Shah, Irappa Madabhavi, Harsha Panchal, Apurva Patel, Urmila Uparkar, Asha Anand, Sonia Parikh, Kinnari Patel, Kamlesh Shah, Swaroop Revannasiddaiah
Journal: Case Rep Hematol (2015)

The most frequent form of congenital dyserythropoiesis (CDA) is congenital dyserythropoietic anemia II (CDA II). CDA II is a rare genetic anemia in humans, inherited in an autosomally recessive mode, characterized by hepatosplenomegaly normocytic anemia and hemolytic jaundice. Patients are usually transfusion-independent except in severe type. We are here reporting a case of severe transfusion-dependent type II congenital dyserythropoietic anemia in a 5-year-old patient who has undergone allogeneic hematopoietic stem cell transplantation (HSCT) at our bone marrow transplantation centre. Patient has had up until now more than 14 mL/kg/month of packed cell volume (PCV), which he required every 15 to 20 days to maintain his hemoglobin of 10 gm/dL and hematocrit of 30%. His pre-HSCT serum ferritin was 1500 ng/mL and he was on iron chelating therapy. Donor was HLA identical sibling (younger brother). The preparative regimen used was busulfan, cyclophosphamide, and antithymocyte globulin (Thymoglobulin). Cyclosporine and short-term methotrexate were used for graft versus host disease (GVHD) prophylaxis. Engraftment of donor cells was quick and the posttransplant course was uneventful. The patient is presently alive and doing well and he has been transfusion-independent for the past 33 months after HSCT.
Sweet Syndrome, Not so Sweet during an Ulcerative Colitis Flare Especially When You Cannot Eat
Authors: Courtney Stead, Shahrad Hakimian, Christina Luffman, Zendee Elaba, Gregory Orlowski, Neil Marya
Journal: Case Rep Gastrointest Med (2021)
MeSH terms: Case Reports

Sweet syndrome is a rare skin condition characterized by painful papules, nodules, or plaques with dense neutrophilic infiltrate in the upper dermis. It has been observed as idiopathic (classical), malignancy-associated, and drug-induced. The pathogenesis is not completely understood, but it is thought to involve hypersensitivity reactions to specific triggers. In some cases the etiology is unclear or may be multifactorial. We present a case of Sweet syndrome secondary to ulcerative colitis flare versus adalimumab re-induction.
Trauma-induced complete pacemaker lead fracture 8 months prior to hospitalization: A case report
Authors: Yi Xu, Xiaoming Chen, Jianyi Feng, Jun Guo, Zicheng Li
Journal: Open Med (Wars) (2021)
Keywords: complication, lead fracture, pacemaker
MeSH terms: Case Reports

Trauma-induced complete lead fracture is a rare complication of pacemaker implantation. Only a few cases have been previously reported. Common treatment included replacement of pacemaker and/or extraction of fractured lead. In this report, however, we describe this unique case of complete traumatic pacemaker lead fracture. The patient had her right-ventricular lead fractured after a bicycle accident and had lived with the fractured lead for 8 months prior to her hospitalization. After examinations, she was treated with a relatively conservative strategy. The pacemaker and fractured lead were left for further observation and follow-up.
Facial Palsy as Initial Symptom in Glycine Receptor Antibody Positive Progressive Encephalomyelitis With Rigidity and Myoclonus: A Case Report
Authors: Li Wang, Rui Zhang, Kai Liu, Yafang Xu, Bo Song, Yuming Xu
Journal: Front Neurol (2022)
Keywords: autoimmune disease, case report, complications, facial palsy, glycine receptor antibody, progressive encephalomyelitis with rigidity and myoclonus
MeSH terms: Case Reports

Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare and disabling syndrome characterized by painful spasms, myoclonic jerks, hyperekplexia, brainstem signs, and dysautonomia, which is considered to be a severe form of stiff person spectrum disorder (SPSD) and is mostly associated with glycine receptor antibodies. The PERM has an acute or subacute course, with complex and varied initial symptoms mainly manifest as stiffness and pain. The authors present the case of a male patient admitted for intractable stiffness and paroxysmal myoclonus of the lower extremities preceded by a 5-day history of facial weakness. After admission, his symptoms deteriorated rapidly. He developed progressive generalized hypertonia and painful spasms, which quickly spread to the upper extremities, and he suffered frequent paroxysmal myoclonus. Serum and cerebrospinal fluid (CSF) were tested by a cell-based assay, and both were positive for glycine receptor antibodies (GlyR-Abs). The patient developed complications, such as crushed teeth, lumbar vertebral compression fractures, and psoas major muscle abscess, during rapid disease progression, although he responded well after being treated with intravenous methylprednisolone and immunoglobulin. This report of PERM, initiated as facial palsy followed by acute progression, helps to expand the clinical spectrum of this rare autoimmune disorder and raise awareness of the prevention of complications.
Myxedema coma: four patients diagnosed at the Internal Medicine Department of the Dr. Negrin University Hospital in Spain
Authors: Noel Lorenzo Villalba, Abrar-Ahmad Zulfiqar, Vanessa Saint-Mezard, Maria Belen Alonso Ortiz, Melek Kechida, Nuria Fuertes Zamorano, Saturnino Suárez Ortega
Journal: Pan Afr Med J (2019)
Keywords: myxedema coma, hormone replacement therapy, hypothyroidism
MeSH terms: Coma / etiology, Hormone Replacement Therapy / methods, Hypothyroidism / complications, Myxedema / etiology, Case Reports, Aged, Aged, 80 and over, Amiodarone / administration & dosage, Coma / drug therapy, Female, Hospitals, University, Humans, Male, Medication Adherence, Myxedema / drug therapy, Spain, Amiodarone

Myxedema coma is a rare complication of hypothyroidism. Clinical examination may reveal hypotension, bradycardia, and hypothermia. Laboratory tests may show hyponatremia, lipid disorders, and elevations of creatine kinase, liver, and cardiac enzymes. We describe four cases diagnosed in our hospital during the period 1999-2017. The patients were related to amiodarone treatment, noncompliance with hormone replacement therapy, or a new diagnosis of hypothyroidism. Intravenous hormone replacement therapy was effective in three of the cases and one died. The outcome of this disease may be fatal as seen in one of our cases.
Stereotactic body radiotherapy for treatment of squamous cell carcinoma of the tongue associated with human papilloma virus: a case report
Authors: Brian Rodgers, Prakash Neupane, Chris Lominska, Yelizaveta Shnayder
Journal: Front Oncol (2013)
Keywords: hpv, sbrt, oropharyngeal cancer, recurrence, tongue neoplasms

Stereotactic body radiotherapy (SBRT) has emerged as a treatment for recurrent squamous cell carcinoma of the head and neck in the field of prior radiation. We report a case of its use in an human papilloma virus (HPV) positive patient with squamous cell carcinoma of the right base of tongue. The patient had complete response to treatment and modest toxicities were noted. This represents encouraging results that SBRT is also useful for salvage in patients with HPV positive disease.
Massive multinodular head and neck recurrence of parotid gland pleomorphic adenoma: a case report
Authors: Pierre Philouze, Nicolas Sigaux, Anne Frédérique Manichon, Jean-Christian Pignat, Marc Poupart
Journal: Case Rep Otolaryngol (2014)

Introduction. The optimal initial management of parotid pleomorphic adenomas reduces the risk of recurrence and malignant transformation. Surgery of recurrence can be difficult in multinodular disseminated forms. Case Report. A 67-years-old patient was referred for management of a large multifocal recurrence of a pleomorphic adenoma operated on 23 years ago. The clinical and radiological assessment found parapharyngeal, infratemporal, and prestyloid invasion, with nodules in the sternocleidomastoid muscle. Excision by transmandibular approach was performed. The pathologist found a multinodular recurrent pleomorphic adenoma without criteria of malignancy. Postoperative radiotherapy was performed. Discussion. Multinodular forms and incomplete resections are the most important factors that are thought to predispose to recurrence. A precise analysis of the extension by preoperative MRI is essential. Adjuvant radiotherapy can be given in these recurrent multifocal forms.
A Rare Case of Urinary Bladder Exstrophy Presenting With Signet Ring Cell Adenocarcinoma in an Adult
Authors: Gaurav Kumar Malvi, Sujata K Patwardhan, Bhushan Patil, Rajvi Goradia, Abhinav Malvi
Journal: Cureus (2023)
Keywords: cystectomy, ileal conduit, pedicled flap, signet ring cell adenocarcinoma, urinary bladder exstrophy
MeSH terms: Case Reports

Due to the conspicuous morphology of the deformity and the fact that primary reconstruction is typically performed in infancy, untreated bladder exstrophy in adults is infrequent. An adult presenting with bladder exstrophy is quite uncommon. We present a 32-year-old man with a bladder mass that existed since birth. He complained of an unpleasant discharge from the mass upon presentation, and on examination, a mass was seen on the urinary bladder's exposed surface, coupled with penile epispadias, a deformed scrotum, and undersized bilateral testicles. Ultrasonography of the kidneys, ureters and urinary bladder (USG KUB), contrast-enhanced computed tomography (CECT) of the abdomen and pelvis, and mass biopsy were all used to investigate the patient. The patient was found to have signet ring adenocarcinoma of the urinary bladder. A radical cystectomy with an anterolateral thigh flap was performed. The clinical and radiological characteristics, treatments, and results of this uncommon presentation are discussed in this case report.
Case Report: Opposite Effects of BRAF Inhibition on Closely Related Clonal Myeloid Disorders
Authors: Katrin E Hostettler, Elisa Casañas Quintana, Michael Tamm, Spasenija Savic Prince, Gregor Sommer, Wei-Chih Chen, Thierry Michael Nordmann, Pontus Lundberg, Gregor Thomas Stehle, Thomas Daikeler
Journal: Front Oncol (2021)
Keywords: aml—acute myeloid leukemia, braf inhibition, langerhans cell histiocytosis, acute myeloid leukemia, case report, hematopoietic stem cell transplantation
MeSH terms: Case Reports

Langerhans cell histiocytosis (LCH) commonly co-occurs with additional myeloid malignancies. The introduction of targeted therapies, blocking "driver" mutations (e.g., BRAF V600E), enabled long-term remission in patients with LCH. The effect of BRAF inhibition on the course and the prognosis of co-existing clonal hematopoiesis is poorly understood. We report on a 61-year-old patient with systemic BRAF V600E positive LCH and concomitant BRAF wild-type (wt) clonal cytopenia of unknown significance (CCUS) with unfavorable somatic mutations including loss of function (LOF) of NF1. While manifestations of LCH improved after blocking BRAF by dabrafenib treatment, the BRAF wt CCUS progressed to acute myeloid leukemia (AML). The patient eventually underwent successful allogeneic hematopoietic stem cell transplantation (HSCT). We performed an in-depth analyzes of the clonal relationship of CCUS and the tissue affected by LCH by using next-generation sequencing (NGS). The findings suggest activation of the mitogen-activated protein (MAP) kinase pathway in the CCUS clone due to the presence of the RAS deregulating NF1 mutations and wt BRAF, which is reportedly associated with paradoxical activation of CRAF and hence MEK. Patients with LCH should be carefully screened for potential additional clonal hematological diseases. NGS can help predict outcome of the latter in case of BRAF inhibition. Blocking the MAP kinase pathway further downstream (e.g., by using MEK inhibitors) or allogeneic HSCT may be options for patients at risk.
Case report: Phenotype expansion and analysis of TRIO and CNKSR2 variations
Authors: Yuefang Liu, Zhe Liang, Weili Cai, Qixiang Shao, Qiong Pan
Journal: Front Neurol (2022)
Keywords: cnksr2, rac1, trio, case report, neurodevelopmental disorders
MeSH terms: Case Reports

Introduction:
TRIO and CNKSR2 have been demonstrated as the important regulators of RAC1. TRIO is a guanine exchange factor (GEF) and promotes RAC1 activity by accelerating the GDP to GTP exchange. CNKSR2 is a scaffold and adaptor protein and helps to maintain Rac1 GTP/GDP levels at a concentration conducive for dendritic spines formation. Dysregulated RAC1 activity causes synaptic function defects leading to neurodevelopmental disorders (NDDs), which manifest as intellectual disability, learning difficulties, and language disorders.
Case presentation:
Here, we reported two cases with TRIO variation from one family and three cases with CNKSR2 variation from another family. The family with TRIO variation carries a novel heterozygous frameshift variant c.3506delG (p. Gly1169AlafsTer11), where a prenatal case and an apparently asymptomatic carrier mother with only enlarged left lateral ventricles were firstly reported. On the other hand, the CNKSR2 family carries a novel hemizygous non-sense variant c.1282C>T (p. Arg428*). Concurrently, we identified a novel phenotype never reported in known pathogenic CNKSR2 variants, that hydrocephalus and widening lateral ventricle in a 6-year-old male of this family. Furthermore, the genotype-phenotype relationship for TRIO, CNKSR2, and RAC1 was explored through a literature review.
Conclusion:
The novel variants and unique clinical features of these two pedigrees will help expand our understanding of the genetic and phenotypic profile of TRIO- and CNKSR2-related diseases.
Transvesical removal of huge seminal vesicle cystadenoma
Authors: Mojtaba Ameli, Naser Yousefzadeh
Journal: Pan Afr Med J (2017)
MeSH terms: Cystadenoma / surgery, Genital Neoplasms, Male / surgery, Seminal Vesicles / surgery, Case Reports, Cystadenoma / diagnosis, Cystadenoma / pathology, Genital Neoplasms, Male / diagnosis, Genital Neoplasms, Male / pathology, Humans, Lower Urinary Tract Symptoms / etiology, Male, Middle Aged, Seminal Vesicles / pathology

Benign tumors of the Seminal vesicle that occur more commonly then malignant tumors. Cystadenoma is an extremely rare benign tumor of the seminal vesicle. Management of these tumors remains debatable due to the limited data in the literature. We present a cystadenoma of the seminal vesicle was resected using an open transvesical approach. A Sonography reported enlarged prostate with volume of 560 ml with multiple cystic area inside it. CT scan and abdomen and pelvic MRI with and without Gadolinium also performed and huge (120 * 100 * 100mm) heterogeneous mass in anatomic site of prostate reported. Patient underwent pelvic mass resection by retro vesical abdominal approach. Final pathology report is consistent with cystadenoma/epithelial stromal tumor of the seminal vesicle with no suggestion for malignancy. After recovery from surgery patient was symptom free and totally continent with preserved erectile function. Surgical intervention may be considered when a cystadenoma of the seminal vesicle is diagnosed and symptoms or tumor growth occurs transvesical removal of seminal vesicle mass is an effective surgical procedure for seminal vesicle disease.
A Rare Case of Extremely Severe Heterotopic Ossification after Primary Total Hip Arthroplasty due to Persistent Mild Periprosthetic Joint Infection
Authors: Yutaka Kinoshita, Shunji Nakano, Shinji Yoshioka, Masaru Nakamura, Tomohiro Goto, Daisuke Hamada, Koichi Sairyo
Journal: Case Rep Orthop (2021)
MeSH terms: Case Reports

Periprosthetic joint infection (PJI) caused by coagulase-negative staphylococci (CNS) can be a mild, persisting infection. Although heterotopic ossification (HO) is common following total hip arthroplasty (THA), the etiology of severe HO remains unclear. Herein, we describe a rare case of extremely severe HO after a PJI associated with a Staphylococcus caprae infection in a 78-year-old male patient. The patient had poorly controlled diabetes mellitus with no diabetic complications. The patient had no previous history of hip surgery, hip injury, or systemic bacterial infection. Immediately after the initial THA, he developed intermittent low-grade fever (37°C), which persisted for 3 months; consequently, he also reported mild hip pain during walking. He experienced a gradual decrease in hip range of motion within 5 years after the surgery, with progressive gait impairment. Two revision surgeries were required for the successful treatment of this difficult case. The patient's hip function improved, and the PJI was controlled following the second revision surgery. Based on the clinical course, CNS-caused PJI may lead to severe HO. This possibility warrants verification from an accumulated number of cases.
Calculating intraocular lens power in anterior megalophthalmos: A case report
Authors: Jiancheng Mu, Yu Yang, Tianxu Xiong, Wei Fan
Journal: Front Med (Lausanne) (2022)
Keywords: iol power calculation, anterior megalophthalmos, cataract, intraocular lens, surgical technique
MeSH terms: Case Reports

Introduction:
We report a case of a man with cataract and anterior megalophthalmos (AM), in which some myopia was retained when calculating intraocular lens (IOL) power using the Haigis formula to avoid postoperative farsightedness.
Case description:
A 59-year-old Chinese man was referred to our clinic for cataract surgery in his right eye. He had strong bilateral megalocornea, and his left eye had undergone surgery four times. After complete preoperative examinations and repeated biometry, the Haigis formula was used, and a 3-piece IOL was implanted with a target power of -1.97 D. At 1-year follow-up, the patient showed the best-corrected distance vision of 20/20 with the refraction of -1.50 DC × 160°, and the IOL was stable.
Conclusion:
Our patient with anterior megalophthalmos showed postoperative hyperopia drift even though the Haigis formula was used as suggested in previous studies. To prevent farsightedness after surgery, some myopia should be retained when calculating IOL power. The Kane, Holladay II with AL adjustment, and Barrett Universal II formulas may be more accurate for calculating IOL power in such patients.
Fat Embolization Syndrome Secondary to Steroid Treatment in a Case of Sickle Cell Vaso-Occlusive Crisis
Authors: Ram Prakash Thirugnanasambandam, Farish Mohamed Maraikayar, Marie Liu, Khalid Elbashir, John Muthu
Journal: Case Rep Hematol (2023)
MeSH terms: Case Reports

Fat embolization syndrome (FES) is often seen as a complication of fractures and has been known to cause respiratory failure, rashes of the skin, thrombocytopenia, and neurological damage. Nontraumatic FES is uncommon and occurs due to bone marrow necrosis. Vaso-occlusive crisis in sickle cell patients secondary to steroid therapy is a rare entity and not widely acknowledged. We report a case of FES secondary to steroid therapy administered for a patient with intractable migraine. FES is an uncommon yet serious complication that occurs due to bone marrow necrosis and is usually associated with increased mortality or damaging neurologic sequelae for the surviving patient. Our patient was initially admitted for intractable migraine and worked up to rule out any acute emergency conditions. She was then given steroids for her migraine which did not subside with the initial treatment. Her condition worsened, and she developed respiratory failure along with altered mental status requiring care in the intensive care unit (ICU). Imaging studies showed microhemorrhages throughout the cerebral hemispheres, brainstem, and cerebellum. The imaging of her lungs confirmed severe acute chest syndrome. The patient also had hepatocellular and renal injuries indicative of multiorgan failure. The patient was treated with a red cell exchange transfusion (RBCx) leading to an almost complete recovery in a few days. The patient, however, had residual neurological sequelae with the presence of numb chin syndrome (NCS). This report thus highlights the need to recognize potential multiorgan failure secondary to steroid treatment and the importance of initiating treatment with red cell exchange transfusions to decrease the risk of such complications secondary to steroids.