OpenMed/multicare-articles huggingface dataset:
Functional Quadriplegia as an Initial Presentation of Severe Rheumatoid Arthritis
Authors: Nadia G Obaed, Mohamed Elsheshtawi, Can Jones, Vivek Kothari, Tabitha Estica, Kristina Menchaca, Shaun Isaac
Journal: Cureus (2023)
Keywords: atypical presentation, diagnostic delay, economic burden of healthcare, financial impact, functional quadriplegia, limb edema, progressive weakness, rheumatoid arthritis
MeSH terms: Case Reports

Rheumatoid arthritis is a chronic inflammatory condition with many manifestations primarily presenting in older female patients with joint stiffness. Quadriplegia associated with rheumatoid arthritis is common and can occur secondary to spinal cord compression from atlantoaxial dislocation. In contrast, functional quadriplegia is rare and has not been previously reported as an initial manifestation of rheumatoid arthritis. We report the case of a 56-year-old male with a past medical history of carotid artery stenosis, hypertension, and tobacco and alcohol misuse who presented to the emergency department with a five-month history of progressive bilateral shoulder pain and weakness resulting in functional quadriplegia. The patient required inpatient hospital admission for further evaluation of his functional quadriplegia and associated symptoms. His workup was significant for rheumatoid arthritis, and he was successfully treated with high-dose steroids and received physical and occupational therapy during admission. Prior to discharge, the patient was initiated on methotrexate therapy and appointed a follow-up with primary care and rheumatology. The purpose of this study is to facilitate early clinical recognition of a common disease with unique and underreported symptomatology.
Posterior epidural migration of lumbar intervertebral fragment: case report
Authors: Soueilem Mohamed Bouya, Ben Ousmanou Djoubairou, Naama Okacha, Miloudi Gazzaz, Brahim El Mostarchid
Journal: Pan Afr Med J (2015)
Keywords: posterior epidural disk fragment, magnetic resonance imaging, surgery
MeSH terms: Epidural Space / pathology, Intervertebral Disc / pathology, Lumbar Vertebrae / pathology, Radiculopathy / etiology, Case Reports, Humans, Intervertebral Disc / surgery, Laminectomy / methods, Magnetic Resonance Imaging, Male, Middle Aged

Disc fragments are well known to migrate to superior, inferior, or lateral sites in the anterior epidural space, posterior epidural migrated lumbar disc fragments is an extremely rare disorder. Posterior epidural migrated lumbar disc fragments are often confused with other posterior epidural space-occupying lesions (cysts, abscesses, tumors, and hematomas). We reported the case of a 52- year-old man presented with progressive not systematizes bilateral radiculopathy complicated one week before admission a difficulty dorsiflexion prevents the start, and the stared to use crutches. Clinical examination revealed steppage gait and a strength score of 3/5 on dorsiflexion of feet. MR imaging of lumbar spine showed right posterolateral epidural mass that compressed the dural sac at the L3-4 level. Patient underwent surgery using posterior approach, an L3 laminectomy was performed, the extruded disk fragment was gently removed and L3-L4 interspace was explored. Histopathology confirmed the (PEMLIF). Postoperative course was uneventful.
A de novo complex chromosome rearrangement associated with multisystematic abnormalities, a case report
Authors: Chan Tian, Dan Li, Ping Liu, Liping Jiao, Xuefeng Gao, Jie Qiao
Journal: Mol Cytogenet (2017)
Keywords: aid, ccr, fish, microdeletion, rearrangement, snp-array
MeSH terms: Case Reports

Background:
Complex chromosomal rearrangements (CCRs) are constitutional structural rearrangements that involve three or more chromosomes or that have more than two breakpoints.
Case presentation:
Here, we describe a four-way CCR involving chromosomes 4, 5, 6 and 8. The patient had mild multisystematic abnormalities during his development, including defects in his eyes and teeth, exomphalos and asthenozoospermia. His wife had two spontaneous abortions during the first trimester. The translocations in 4q27, 5q22, 6q22.3, and 8p11.2 were diagnosed by conventional cytogenetic analysis and confirmed by fluorescence in situ hybridization(FISH). After analysis using a SNP array, we defined three microdeletions, including 0.89 Mb on chromosome 4, 5.39 Mb on chromosome 5 and 0.43 Mb on chromosome 8. His mother had a chimera karyotype of 47, XXX[5]/45, X[4]/46, XX[91]; the other chromosomes were normal. After one cycle of in vitro fertility (IVF) treatment followed by preimplantation genetic diagnosis (PGD), they obtained two embryos, but neither was balanced.
Conclusions:
The patient's phenotype resulted from the CCR and microdeletion of chromosomes 4, 5 and 8. The couple decided to use artificial insemination by donor (AID) technology.
Paranasal sinus neuroendocrine carcinoma: a case report and review of the literature
Authors: Nagesh T Sirsath, K Govind Babu, Umesh Das, C S Premlatha
Journal: Case Rep Oncol Med (2013)

Neuroendocrine neoplasms are defined as epithelial neoplasms with predominant neuroendocrine differentiation. They can arise in almost every organ of the body although they are most commonly found in the gastrointestinal tract and respiratory system. Nasal cavity and paranasal sinuses are a rare site for neuroendocrine carcinoma. In contrast to the other regions, neuroendocrine tumours of the sinuses have been reported to be recurrent and locally destructive. Very few cases of paranasal sinus neuroendocrine carcinoma have been reported till date. Difficulty in pathologic diagnosis and rarity of this malignancy have hindered the progress in understanding the clinical course and improving outcomes. We herein report a case of poorly differentiated neuroendocrine tumour of ethmoid and sphenoid sinus with invasion of orbit and intracranial extension. The patient had complete response at the end of chemoradiation and he was disease-free for 9 months duration after which he developed bone metastasis without regional recurrence.
Splenectomy for Solitary Splenic Metastasis in Recurrent Papillary Thyroid Cancer. A Case Report and Literature Review
Authors: Antonio Maffuz-Aziz, Gabriel Garnica, Silvia López-Hernández, Janet Pineda-Diaz, Javier Baquera-Heredia, Patricia López-Jiménez
Journal: Case Rep Oncol Med (2020)
MeSH terms: Case Reports

Thyroid cancer is the most common endocrine malignancy, presenting with 23 500 new cases per year in the United States. About 7-23% of the patients will present recurrent metastases disease during follow-up. The classic variant of papillary carcinoma is less aggressive compared to its other variants like diffuse sclerosing, tall cell or columnar cell, and insular variants, and the sites to which this metastasizes is already well identified. Metastasis to the spleen is an extremely rare manifestation of papillary thyroid cancer. To date, only 3 cases have been reported in the literature. Herein, we present a 52-year-old male, who developed spleen metastases, 2.4 years after total thyroidectomy and central neck dissection followed by radioactive iodine ablation and seven months after treatment with sorafenib for lung metastases. The splenic lesion was detected in surveillance studies. This case highlights that splenic metastasis, although rare, may occur even in a patient with a locoregional and systemic controlled thyroid cancer and that it can be treated safely with surgical resection.
Efficacy of panniculectomy-combined surgery in superobese patients with endometrial cancer: A case report and literature review
Authors: Masayo Okawa, Hiroaki Komatsu, Daiken Osaku, Mayumi Sawada, Akiko Kudoh, Ruri Shimogai, Jun Chikumi, Shinya Sato, Tetsuro Oishi, Tasuku Harada
Journal: Int J Surg Case Rep (2020)
Keywords: endometrial cancer, obesity, panniculectomy
MeSH terms: Case Reports

Introduction:
Panniculectomy is regarded as an effective approach in highly obese patients with endometrial cancer to improve surgical access or space of the surgical field.
Presentation of case:
A 66-year-old nulliparous woman was brought in from another hospital to our institute for newly diagnosed endometrial carcinoma. The patient was 158 cm in height and weighed 135.8 kg during the first visit to our hospital. Her body mass Index (BMI) was 54.4 kg/m2. Unfortunately, the patient developed an umbilical hernia and strangulation before the surgery. Emergency partial ileal resection and simple closure of the umbilical hernia were performed. We were finally able to perform simple hysterectomy, and bilateral salpingo-oophorectomy with panniculectomy. Her weight at the time of surgery was 115.5 kg which had been reduced by 20 kg from the time she was first brought in, and the BMI decreased from 54.4 to 45.3 kg/m2. The patient underwent follow-up without adjuvant therapy since she was in the low-risk group, and showed no signs of recurrence 12 months after surgery.
Discussion:
There are various risks associated with surgery in highly obese patients. Diabetes mellitus, hypertension and smoking are reported to be risk factors of wound complication in panniculectomy, and it was reported that diabetes mellitus was an independent risk factor.
Conclusion:
The combination of panniculectomy was considered as an effective approach to perform safe surgery for obese patients.
Olaparib for metastatic breast cancer in a patient with a germline PALB2 variant
Authors: Sherko Kuemmel, Hakima Harrach, Rita K Schmutzler, Athina Kostara, Katja Ziegler-Löhr, Mark H Dyson, Ouafaa Chiari, Mattea Reinisch
Journal: NPJ Breast Cancer (2020)
Keywords: breast cancer, cancer therapy
MeSH terms: Case Reports

There is a strong biologic rationale that poly(adenosine diphosphate-ribose) polymerase (PARP) inhibitors may benefit a broader range of metastatic breast cancer (MBC) patients than covered by current approvals, which require a germline BRCA1/2 sequence variant affecting function. We report a patient with germline/somatic BRCA1/2 wild-type MBC, who had a dramatic response to the PARP inhibitor olaparib of at least 8 months' duration. The patient is a 37-year-old woman with recurrent, hormone receptor-positive, HER2-negative MBC that had progressed despite hormonal therapy and palbociclib. Sensitivity to olaparib was likely conferred by a germline sequence variant affecting function in PALB2 (exon 1, c.18G>T, p.(=)). This case documenting activity of olaparib monotherapy in germline/somatic BRCA1/2 wild-type MBC illustrates that the clinical potential of PARP inhibition in MBC extends beyond currently approved indications to additional patients whose tumors have (epi)genetic changes affecting homologous recombination repair.
Genomic evolution of the SARS-CoV-2 Variants of Concern: COVID-19 pandemic waves in India
Authors: Pooja Bhardwaj, Shailendra Kumar Mishra, Sthita Pragnya Behera, Kamran Zaman, Rajni Kant, Rajeev Singh
Journal: EXCLI J (2023)
Keywords: covid-19, india, sars-cov-2, spike protein, variant of concern
MeSH terms: Review

SARS-CoV-2 has mutated rapidly since its first case report in Wuhan, China, leading to the emergence of an indefinite number of variants. India has witnessed three waves of the COVID-19 pandemic. The country saw its first wave of SARS-CoV-2 illness from late January 2020 to February 2021. With a peak surge of cases in mid-September 2020, India recorded more than 11 million cases and a death toll of more than 0.165 million at this time. India faced a brutal second wave driven by the emergence of highly infectious SARS-CoV-2 variants B.1.617.2 (Delta variant) and the third wave with the leading cause of BA.2 (Omicron variant), which has led to an unprecedented rise in COVID-19 cases in the country. On September 14, 2022, India recorded a cumulative 44.51 million cases of COVID-19 with more than 0.528 million deaths. The discovery of common circulating mutants is facilitated by genome sequencing. The changes in the Spike surface glycoprotein recombinant binding domains served as the critical alterations, resulting in enhanced infectivity and transmissibility, with severe clinical effects. Further, the predominant mutation in the SARS-CoV-2 spike protein; the D614G strains served as a model for vaccine development. The mutation of the Wuhan strain to the Variant of Concern led to a significant increase in SARS-CoV-2 infections. In addition, there was a shift in the age group affected by SARS-CoV-2 variant infection. The current review summarized the COVID-19 pandemic's Variant of Concern and the advent of SARS-CoV-2 in India.
Non-Hodgkin lymphoma with relapses in the lacrimal glands
Authors: Rita Couceiro, Helena Proença, Filomena Pinto, Ana Fonseca, Manuel Monteiro-Grillo
Journal: GMS Ophthalmol Cases (2015)
Keywords: lacrimal gland, non-hodgkin lymphoma relapse, ocular ultrasound, orbit
MeSH terms: Case Reports

Objective:
To report an unusual case of systemic non-Hodgkin lymphoma (NHL) with repeated relapse in the lacrimal glands, in spite of complete remission for several years after treatment.
Methods:
A 78-year-old male with small lymphocytic B cell NHL, stage IV disease (lung invasion), was submitted to surgery and chemotherapy in 2001, with complete remission of the disease. In 2003 he developed a nodular lesion in the right lacrimal fossa. Pathology results revealed a local relapse of NHL. Radiation and chemotherapy were initiated and complete remission was again achieved. In 2012 the patient developed a new nodular lesion located in the left lacrimal fossa, resulting in diplopia, ptosis and proptosis of the left eye. Orbital computerized tomography (CT), ocular ultrasound and incisional biopsy were performed.
Results:
Orbital CT revealed a lesion infiltrating the left lacrimal gland and encircling the globe. Biopsy results confirmed a local relapse of B cell NHL. The patient was submitted to local radiation therapy with progressive resolution of ptosis, proptosis and diplopia. Response to treatment was monitored with ocular ultrasound.
Conclusions:
Patients with NHL diagnosis should be immediately investigated if ophthalmic or orbital symptoms develop. NHL extension to the orbit and adnexa is infrequent (5% of NHL cases) but may occur at any stage of the disease, including as a relapse site. In such cases, radiation and chemotherapy achieve good results, inducing long periods of remission.
Acute HIV Presenting With Unilateral Facial Nerve Paralysis: A Case Report
Authors: Omar Kandah, Shuo Liu, Peter Montesano
Journal: Cureus (2023)
Keywords: bell's palsy, bell’s palsy association, facial nerve paralysis, hiv, hiv aids
MeSH terms: Case Reports

Cranial nerve VII palsy is one of the most common cranial nerve pathologies seen in clinical practice. In the vast majority of cases, the cause is thought to be idiopathic and is also referred to as Bell's palsy. These cases are normally self-limiting and often treated with a short course of corticosteroids for symptom management. However, prompt work-up and diagnosis are crucial, as non-idiopathic causes can often be life-altering and necessitate prompt intervention. Here, we report a unique case of a 43-year-old immigrant male who presented to the emergency department with a three-day history of worsening facial droop and slurred speech, with associated facial pain, headaches, and dizziness for the previous week. On exam, there was stark right facial weakness involving both the upper and lower portions of the face with no sensory deficits. The patient's right eye was erythematous and painful, with no ability to fully open or close the right eyelid. The initial workup showed minor transaminitis with pancytopenia. A thorough workup was initiated, and all testing and serology were normal, with the exception of initial HIV screening. This was then followed by polymerase chain reaction (PCR) and viral load testing, which confirmed a new diagnosis of acute HIV infection presenting with unilateral CN VII palsy. In this report, we discuss the etiology, clinical features, differentials, and treatment options for facial nerve paralysis, along with the subtle connection to acute HIV infection.
An Unexpected Etiology of Pancreatic Panniculitis: A Case Report
Authors: A C Evans, A D Singhi, H J Zeh Rd, N Bahary, R E Brand
Journal: J Pancreat Cancer (2017)
Keywords: acinar cell cancer, pancreatic panniculitis, pancreatic portal fistula
MeSH terms: Case Reports

Background:
Pancreatic panniculitis is a rare cause of subcutaneous fat necrosis secondary to elevated serum levels of pancreatic enzymes. It is most often associated with pancreatic acinar cell carcinoma, but has also been seen in patients with pancreatitis.
Case report:
We present a case of a 64 year old Caucasian man without symptoms of pancreatitis who presents with pancreatic panniculitis manifesting in multiple subcutaneous ulcerating nodules of the bilateral lower extremities, discovered to have a previously unreported etiology for this condition. He had no evidence of pancreatitis or malignancy, but instead a pancreatic-portal fistula resulting in panniculitis.
Conclusion:
Peripancreatic vascular lesions must also be considered in the differential diagnosis of pancreatic panniculitis. The diagnosis, pathology, and treatment of pancreatic panniculitis are reviewed herein.
Chordoma: clinical characteristics, management and prognosis of a case series of 25 patients
Authors: Virginia Ferraresi, Carmen Nuzzo, Carmine Zoccali, Ferdinando Marandino, Antonello Vidiri, Nicola Salducca, Massimo Zeuli, Diana Giannarelli, Francesco Cognetti, Roberto Biagini
Journal: BMC Cancer (2010)
MeSH terms: Chordoma / diagnosis, Chordoma / pathology, Adult, Aged, Bone Neoplasms / diagnosis, Bone Neoplasms / pathology, Disease-Free Survival, Female, Humans, Male, Middle Aged, Neoplasm Metastasis, Positron-Emission Tomography, Prognosis, Receptors, Platelet-Derived Growth Factor / metabolism, Spine / pathology, Treatment Outcome, Receptors, Platelet-Derived Growth Factor

Background:
Adequate surgery still remains the only curative treatment of chordoma. Interesting clinical data on advanced disease with molecularly targeted therapies were reported.
Methods:
We described the clinical outcome of a series of chordoma patients followed at Regina Elena National Cancer Centre of Rome from 2004 to 2008.
Results:
Twenty-five consecutive patients with sacral (11 patients), spine (13 patients), and skull base (1 patient) chordoma went to our observation. Six patients (24%) had primary disease, 14(56%) a recurrent disease, and 5(20%) a metastatic spreading. Surgery was the primary option for treatment in 22 out of 25 patients. Surgical margins were wide in 5 (23%) and intralesional in 17(77%) patients; 3 out of 4 in-house treated patients obtained wide margins. After first surgery, radiotherapy (protons or high-energy photons) were delivered to 3 patients. One out of the 5 patients with wide margins is still without evidence of disease at 20 months from surgery; 2 patients died without evidence of disease after 3 and 36 months from surgery. Sixteen out of 17 (94%) patients with intralesional margins underwent local progression at a median time of 18 months with a 2-year local progression-free survival of 47%. The 5-year metastasis-free survival rate was 78.3%. Seventeen patients with locally advanced and/or metastatic disease expressing platelet-derived growth factor receptor (PDGFR) beta were treated with imatinib mesylate. A RECIST stabilization of the disease was the best response observed in all treated cases. Pain relief with reduction in analgesics use was obtained in 6 out of 11 (54%) symptomatic patients. The 5- and 10-year survival rates of the entire series of patients were 76.7 and 59.7%, respectively.
Conclusions:
Despite progress of surgical techniques and the results obtained with targeted therapy, more effort is needed for better disease control. Specific experience of the multi-disciplinary therapeutic team is, however, essential to succeed in improving patients' outcome.
Holoprosencephaly in Patau Syndrome
Authors: Amanda de Souza Schlosser, Giovani José Coury Costa, Henrique Salmazo da Silva, Juan Luca Menezes de Mello, Lucy de Oliveira Gomes, Marina Michalski Oliveira Onoyama, Tatiana Martins Coury Costa
Journal: Rev Paul Pediatr (2023)
MeSH terms: Holoprosencephaly / diagnosis, Holoprosencephaly / diagnostic imaging, Polydactyly / complications, Polydactyly / diagnosis, Polydactyly / genetics, Case Reports, Chromosomes, Human, Pair 13, Female, Humans, Infant, Infant, Newborn, Mutation, Pregnancy, Trisomy, Trisomy 13 Syndrome / complications, Trisomy 13 Syndrome / diagnosis

Objective:
To evaluate radiological (gestational and perinatal) and neonatal signs of patients with Patau syndrome and semilobar holoprosencephaly, as well as to report the association of both pathologies.
Case description:
This case report is about a female infant, born at term with trisomy of the chromosome 13 and semilobar holoprosencephaly, with thalamic fusion and a single cerebral ventricle, in addition to several other changes that worsened the patient's prognosis.
Comments:
Chromosome 13 trisomy is a genetic alteration that leads to the symptoms that determines Patau syndrome. In this syndrome, cardiovascular, urogenital, central nervous system, facial structure and intellectual impairment are common, in addition to problems in limb formation, such as decreased humerus and femur length, polydactyly, hypotelorism and low ear implantation. It is estimated, however, that holoprosencephaly is present in only 24 to 45% of the patients with trisomy 13.
A Case with Severe Endometriosis, Ovarian Hyperstimulation Syndrome, and Isolated Unilateral Pleural Effusion after IVF
Authors: Negjyp Sopa, Elisabeth Clare Larsen, Anders Nyboe Andersen
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

We present a very rare case of right-sided isolated pleural effusion in a patient with severe endometriosis who, in relation to in vitro fertilization (IVF), developed ovarian hyperstimulation syndrome (OHSS). Earlier laparotomy showed grade IV endometriosis including endometriotic implants of the diaphragm. The patient had no known risk factors for OHSS and only a moderate number of oocytes aspirated. She received, however, repeated hCG injections for luteal support. The patient did not achieve pregnancy but was hospitalized due to pain in the right side of the chest and dyspnoea. A chest computed tomography (CT) showed a pleural effusion on the right side. Total of 1000 ml of pleural fluid was drained after a single thoracentesis. After three days, the symptoms and fluid production ceased. Ascites is a common finding in OHSS, but pleural effusions are rare. Further, isolated pleural effusions have not previously been described in a patient with endometriosis. We suggest that the repeated hCG injections induced effusions from the endometriotic lesions at the diaphragm and as a consequence this patient developed isolated hydrothorax.
May-Thurner Syndrome-a Rare Cause of Extensive Pelvic DVT, but Is there More to Know?
Authors: Vikash Kumar, Michelle Koifman, Bhavyakumar Vachhani, Dhir Gala, Sumeet Bahl
Journal: Case Rep Vasc Med (2022)
MeSH terms: Case Reports

May-Thurner Syndrome (MTS) is a rare anatomical variant characterized by the compression of the left common iliac artery by the right common iliac artery against the fifth lumbar vertebrae. It can present as acute or chronic deep vein thrombosis (DVT), leg pain, varicosities, skin ulceration, and hyperpigmentation. In this case report, we present an interesting case of a young male with no obvious risk factors, who presented with back and left lower extremity pain later diagnosed with MTS on computed tomography angiography (CTA) and venogram. The patient was treated with venoplasty and pharmacomechanical thrombolysis and was discharged on apixaban.