OpenMed/multicare-articles huggingface dataset:
Pancreatic Cancer and Primary Sjögren's Syndrome: A Case Report
Authors: Daniela Oliveira, Vanessa Chaves, José Carlos Martins, Carlos Vaz, Miguel Bernardes, Jorge Almeida
Journal: Case Rep Rheumatol (2021)
MeSH terms: Case Reports

Primary Sjögren syndrome (SS) is a chronic inflammatory systemic autoimmune disease with a high risk of malignancy development, namely, lymphoproliferative neoplasms. Few studies also reported a high risk of solid cancers; however, the coexistence of primary SS and pancreatic cancer has been rarely described. In this paper, we aim to describe a case of a 59-year-old woman who was an active smoker with sicca symptoms and symmetrical polyarthritis and was diagnosed with primary SS two years before the development of metastatic pancreatic adenocarcinoma. Despite institution of chemotherapy, the patient succumbed to the malignancy. Besides that, we explore the link between primary SS and solid cancers including the main predictors of malignancy and the role of primary SS as a paraneoplastic syndrome. Patients with primary SS should be closely monitored for malignancy, not only for hematological cancer, but also for solid tumors. Further research is necessary to understand which are the predictors of cancer proliferation in primary SS patients.
Endo-Perio Lesion and Uncontrolled Diabetes
Authors: Sara Dhoum, Kaoutar Laslami, Fatimazahraa Rouggani, Amal El Ouazzani, Mouna Jabri
Journal: Case Rep Dent (2018)
MeSH terms: Case Reports

This work is to discuss the management of an endo-perio lesion, which represents a challenge to clinicians when it comes to diagnosis and prognosis of the involved teeth and especially with an altered general condition. A 50-year-old female patient with uncontrolled diabetes type 2 is suffering from a purulent discharge coming from the upper right canine. Endodontic and periodontal treatments were realized with 36 months radiological and clinical follow-up with the collaboration of her internist doctor.
Fulminant giant cell myocarditis and cardiogenic shock: an unusual presentation of malignant thymoma
Authors: Deepak Koul, Manreet Kanwar, Dane Jefic, Anuradha Kolluru, Tejwant Singh, Sunil Dhar, Preetham Kumar, Gerald Cohen
Journal: Cardiol Res Pract (2010)
MeSH terms: Case Reports

Malignant thymoma is rarely associated with giant cell myocarditis. We present a case study that illustrates this association and cardiogenic shock with underlying tamponade. The dramatic presentation of this scenario has not been previously described.
Active Moderate-to-Severe Graves' Orbitopathy in a Patient With Type 2 Diabetes Mellitus and Vascular Complications
Authors: Francesca Urselli, Gilda Pontieri, Livia Peschi, Alessia Liccardi, Anna Rita Ruggiero, Bernadette Biondi
Journal: Front Endocrinol (Lausanne) (2019)
Keywords: graves' orbitopathy, diabetes mellitus, glucocorticoids, hyperthyroidism, methotrexate, radiotherapy, tocilizumab
MeSH terms: Case Reports

Background: Graves' orbitopathy (GO) is the main extrathyroidal manifestation of Graves' disease (GD). Diabetes mellitus (DM) has been reported to be a risk factor in patients with GO. Moreover, GO can be more frequent and severe in type 2 diabetes patients. High doses of intravenous glucocorticoids represent the first line treatment of moderate-to-severe and active GO according to the international guidelines. However, this therapy is contraindicated in uncontrolled diabetes and in patients with increased cardiovascular risk. Some anti-diabetic drugs can exacerbate GO. We reported the clinical case of an active and moderate-to-severe GO in a patient with uncontrolled type 2 DM and vascular complications. Case Report: A 61-years-old patient came to our ambulatory for a recurrence of GD and a moderate-to-severe bilateral GO. The patient had uncontrolled type 2 DM during insulin therapy and a history of micro and macrovascular complications. At the physical examination, the clinical activity score was 5 and the severity of GO was moderate-to-severe. A blood sample showed overt hyperthyroidism and the persistence of anti-TSH receptor antibodies (TRAb) during treatment with methimazole. A computed tomography scan showed a moderate-to-severe bilateral exophthalmos. We discuss the benefit/risk of treatment of GO in our patient. Conclusion: The available guidelines do not focus on the treatment of diabetic patients with uncontrolled diabetes and severe vascular complications, therefore our patient represents a difficult therapeutic challenge. The screening of thyroid function and the evaluation of GO could be useful in diabetic patients with autoimmune thyroid disease to perform a correct treatment of these disorders.
Robotic Ventral Transabdominal Preperitoneal Repair of Uncomplicated Spigelian Hernia
Authors: Boluwatito T Abraham, Hussein Sheikhaden, Jae Woo Lee, John T Williams
Journal: Cureus (2023)
Keywords: hernia, hybrid mesh, periumbilical hernia, robotic hernia repair, robotic intraperitoneal onlay mesh (r-ipom), robotic ventral transabdominal preperitoneal (r-vtapp), spigelian hernia, transabdominal preperitoneal (tapp)
MeSH terms: Case Reports

Spigelian hernias are rare herniations through the Spigelian fascia, with an incidence rate of 0.12-2.0% of all hernias. Diagnosis may be difficult due to a potential lack of symptoms until complications arise. Therefore, imaging with either ultrasound or CT with oral contrast is recommended to confirm the diagnosis if a Spigelian hernia is suspected. Once the diagnosis has been established, it is essential that operative repair be performed as soon as possible because 24% of Spigelian hernias become incarcerated, and 27% of Spigelian hernias lead to strangulation. Management options include open surgery, laparoscopic surgery, and robotic surgery. This case report discusses the management of a 47-year-old man with an uncomplicated Spigelian hernia that was repaired with the robotic ventral transabdominal preperitoneal repair technique.
Primary malignant mixed Müllerian tumor arising from the mesorectum with a synchronous ovarian cancer: a case report and review of the literature
Authors: Chuang-Chi Huang, Cheng-Jen Ma, Wan-Ting Huang, Te-Fu Chan, Jaw-Yuan Wang
Journal: J Med Case Rep (2011)

Introduction:
Extragenital malignant mixed Müllerian tumor is an extremely rare presentation of malignant mixed Müllerian tumor, especially when combined with a synchronous ovarian cancer.
Case presentation:
We report the clinical course and pathologic findings of a case of mesorectal malignant mixed Müllerian tumor with synchronous ovarian cancer, in a 50-year-old, gravida 0, para 0, Han Chinese woman with regular menstruation. This is the sixteenth case in the English literature of extragenital malignant mixed Müllerian tumor combined with synchronous or metachronous malignancy reported.
Conclusion:
Although extragenital malignant mixed Müllerian tumor is very rare and has a poor prognososis, a longer survival time might be achieved with treatment by cytoreductive surgery, radiotherapy and chemotherapy.
Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease
Authors: Fátima Lopes, Gabriela Soares, Miguel Gonçalves-Rocha, Jorge Pinto-Basto, Patrícia Maciel
Journal: Front Genet (2017)
Keywords: 10qter deletion, ebf3, hypotonia, intellectual disability, movement disorder, syndrome
MeSH terms: Case Reports

Mutations in early B cell factor 3 (EBF3) were recently described in patients with a neurodevelopmental disorder (NDD) that includes developmental delay/intellectual disability, ataxia, hypotonia, speech impairment, strabismus, genitourinary abnormalities, and mild facial dysmorphisms. Several large 10q terminal and interstitial deletions affecting many genes and including EBF3 have been described in the literature. However, small deletions (<1 MB) affecting almost exclusively EBF3 are not commonly reported. We performed array comparative genomic hybridization (aCGH) (Agilent 180K) and quantitative PCR analysis in a female patient with intellectual disability. A clinical comparison between our patient and overlapping cases reported in the literature was also made. The patient carries a de novo 600 Kb deletion at 10q26.3 affecting the MGMT, EBF3, and GLRX genes. The patient has severe intellectual disability, language impairment, conductive hearing loss, hypotonia, vision alterations, triangular face, short stature, and behavior problems. This presentation overlaps that reported for patients carrying EBF3 heterozygous point mutations, as well as literature reports of patients carrying large 10qter deletions. Our results and the literature review suggest that EBF3 haploinsufficiency is a key contributor to the common aspects of the phenotype presented by patients bearing point mutations and indels in this gene, given that deletions affecting the entire gene (alone or in addition to other genes) are causative of a similar syndrome, including intellectual disability (ID) with associated neurological symptoms and particular facial dysmorphisms.
Surgical management of periapical lesion with dens in dente
Authors: Mk Jindal, Md Asadullah, Sk Misra
Journal: Int J Clin Pediatr Dent (2009)
Keywords: dens invaginatus, apicoectomy, complex internal anatomy, in folding, root canal
MeSH terms: Case Reports

The management of one case of dens in Dente (Dens invaginatus) in maxillary lateral incisor with history of trauma to maxillary central incisor with periradicular lesion is reported. The patient presented with pain and fracture of anterior tooth. Despite of complex anatomy and diagnosis of dens invaginatus, surgical root canal (Apicoectomy) was performed successfully. Further more essential clinical considerations and treatment options are suggested. Early diagnosis and management are important to avoid complications.
Retroperitoneal Abscess Formation Extending to the Lumbar Area After Extracorporeal Shock Wave Lithotripsy
Authors: Michael Nomikos, Anastasios Tsalavoutas, Angelika Kalpaxi, George Athanasopoulos
Journal: J Endourol Case Rep (2018)
Keywords: nephrectomy, retroperitoneal abscess, shock wave lithotripsy
MeSH terms: Case Reports

Background: Renal rupture and retroperitoneal abscess formation after extracorporeal shock wave lithotripsy (SWL) is a rare and potentially life-threatening complication if left untreated with a high morbidity rate. In this study, we present a rare case of renal rupture after SWL, with formation of an extensive retroperitoneal abscess extending to the left abdominal and lumbar area. Case Presentation: A 48-year-old Caucasian woman presented to the outpatient department with left abdominal and lumbar redness and swelling caused by renal rupture and massive perinephric abscess formation, 10 days after SWL treatment of her left renal pelvic stones. She was treated first with drainage of the retroperitoneal abscess and simultaneous Double-J stent placement in her left kidney. A left open nephrectomy was subsequently performed because of persistence of kidney infection. Conclusion: Retroperitoneal abscess formation after SWL is a serious and highly morbid complication, which should be early diagnosed and timely treated.
Atypical Late-Onset Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome with Intractable Diarrhea: A Case Report
Authors: Ting Ge, Yizhong Wang, Yanran Che, Yongmei Xiao, Ting Zhang
Journal: Front Pediatr (2017)
Keywords: x-linked, diarrhea, enteropathy, forkhead box protein 3, hematopoietic stem cell transplantation, immune dysregulation, late-onset, polyendocrinopathy
MeSH terms: Case Reports

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare life threatening congenital autoimmune disorder caused by mutations in the forkhead box protein 3 (FOXP3) gene. The main typical clinical manifestations of IPEX are enteropathy, type 1 diabetes mellitus, and skin diseases, which usually appear in the first months of life and cause death without treatment. Here, we report a 6-year-old boy with late-onset IPEX syndrome due to a c.1190G>A (p. R397Q) mutation in exon 11 of the FOXP3 gene. The boy had intractable diarrhea, abdominal pain, recurrent infections, and failure to thrive. However, diabetes and skin diseases were not observed in the patient. The patient was received metronidazole, teicoplanin, fluconazole, mycamine, ceftriaxone, azithromycin, and fecal microbiota transplantation for treating infections, methylprednisolone and infliximab for suspicion of Crohn's disease after admission. Finally, the boy was diagnosed as IPEX syndrome by genetic test and received hematopoietic stem cell transplantation (HSCT). Our findings suggests that IPEX should be considered in cases of late-onset, mild forms, and less typical clinical manifestations to avoid diagnostic delay.
Systemic lupus erythematosus, antiphospholipid syndrome and Hashimoto thyroiditis occurring in a patient with Niemann-Pick disease: a second case
Authors: Wafa Baya, Fatma Ben Fredj, Imen Ben Hassine, Jihed Anoun, Anis Mzabi, Monia Karmani, Amel Rezgui, Mohamed Adnane Laatiri, Chedia Laouani Kechrid
Journal: Pan Afr Med J (2020)
Keywords: hashimoto thyroiditis, niemann-pick disease, antiphospholipid syndrome, systemic lupus erythematous
MeSH terms: Antiphospholipid Syndrome / diagnosis, Hashimoto Disease / diagnosis, Lupus Erythematosus, Systemic / diagnosis, Niemann-Pick Diseases / diagnosis, Case Reports, Adult, Antiphospholipid Syndrome / drug therapy, Dyspnea / etiology, Female, Hashimoto Disease / drug therapy, Humans, Lupus Erythematosus, Systemic / drug therapy, Niemann-Pick Diseases / drug therapy, Pulmonary Embolism / diagnosis, Tomography, X-Ray Computed

Lysosomial diseases and autoimmune diseases are systemic disorders. Their clinical manifestations can overlap with the broad spectrum of one another. Their association has been rarely reported. We report a new case of systemic lupus erythematous (SLE) associated to antiphospholipid syndrome (APS) and Hashimoto thyroiditis occurring in Niemann-Pick disease (NPD) type B patient. A 42-year-old woman with a familial history of NPD was diagnosed with a NPD type B at the age of ten. Twenty years later (2008), she complained of inflammatory arthralgia with acute dyspnea. She was diagnosed with SLE (according to ACR criteria) and Hashimoto disease with positive IgG anti-cardiolipin and IgA anti-beta2 glycoprotein. In 2018, she presented a left segmental pulmonary embolism. Antiphospholipid syndrome was retained. She was treated with steroids, hydroxychloroquine, anticoagulation therapy and levothyroxine. Her SLE treatment was re-enforced by cyclophosphamide because of corticosteroid dependence and recurrent hemolytic crises.
Isolated pancreatic tuberculosis mimicking as carcinoma: a case report and review of the literature
Authors: Sudeep Khaniya, Rabin Koirala, Vikal Chandra Shakya, Shailesh Adhikary, Rajendra Regmi, Sagar Raj Pandey, Chandra Shekhar Agrawal
Journal: Cases J (2010)

Introduction:
Pancreatic tuberculosis is a rare disease even in endemic countries for tuberculosis. Here, we report a case of pancreatic tuberculosis from tuberculosis endemic zone presenting as obstructive jaundice mimicking pancreatic cancer.
Case presentation:
A 41-year-old male presented with features of malignant obstructive jaundice. Ultrasonography and computed tomography scan showed mass in the pancreatic head and uncinate process. He underwent a pancreatoduodencetomy. Histological examination showed typical features of tuberculosis. Antitubercular drugs were started and he remains well six months after surgery.
Conclusion:
Tuberculosis should be considered as a differential diagnosis to an obscure pancreatic mass in younger or middle aged patient residing in tuberculosis endemic zone.
Neurocysticercosis presenting with oculomotor nerve palsy: Case report and literature review
Authors: Almurtada Razok, Maisa Ali, Abdullah Shams, Muhammad Zahid
Journal: IDCases (2023)
Keywords: neurocysticercosis, oculomotor nerve, ptosis, qatar, taenia solium
MeSH terms: Case Reports

Neurocysticercosis (NCC), a central nervous system infection caused by the cystic larvae of Taenia Solium, is endemic in many low-to-middle income countries. NCC is known to have a variety of presentations depending on the size and site of involvement including chronic headaches, seizures, hydrocephalus, and ischemic insults. NCC has also been rarely associated with cranial nerve palsies. We report the case of a 26-year-old Nepalese lady who presented with isolated left-sided oculomotor nerve palsy and was found to have midbrain NCC. She was treated with anthelminthic agents and corticosteroids which led to clinical improvement. NCC can present with a variety of focal neurological syndromes. To the best of our knowledge, this is the first case report of NCC presenting with third cranial nerve palsy in the state of Qatar and the middle east. We also review the literature for other cases of NCC which presented with isolated oculomotor nerve palsy.
Why Asplenic Patients Should Not Take Care of the Neighbour's Dog? A Fatal Course of Capnocytophaga canimorsus Sepsis
Authors: Patrick Langguth, Lothar Leissner, Günther Zick, Arno Fischer, Christiane Stuhlmann-Laiesz, Mona Salehi Ravesh, Friederike Austein, Olav Jansen, Marcus Both
Journal: Case Rep Infect Dis (2018)
MeSH terms: Case Reports

Capnocytophaga canimorsus (CC) belongs to the family Flavobacteriaceae which physiologically occurs in the natural flora of the oral mucosa of dogs and cats. In patients with a compromised immune system, CC can induce a systemic infection with a fulminant course of disease. Infections with CC are rare, and the diagnosis is often complicated and prolonged. We describe a patient with a medical history of prior splenectomy who presented with an acute sepsis and disseminated intravascular coagulation (DIC) and was initially treated on Waterhouse-Friderichsen syndrome (WFS). After the patient had died despite forced treatment in the intermediate care unit, the differential diagnosis of CC was confirmed by culture of blood smears. Later on, a retrospective third-party anamnesis revealed that the patient had contact to his neighbour's dog a few days before disease onset. In conclusion, patients with CC infection can mimic WFS and therefore must be included in the differential diagnosis, especially in patients with a corresponding medical history of dog or cat bites, scratches, licks, or simple exposure.
Whole-genome mate-pair sequencing of apparently balanced chromosome rearrangements reveals complex structural variations: two case studies
Authors: Ya-Qi Tan, Yue-Qiu Tan, De-Hua Cheng
Journal: Mol Cytogenet (2020)
Keywords: apparently balanced chromosome rearrangement, complex chromosomal rearrangement, cryptic breakpoint, reproductive risk, whole-genome mate pair sequencing
MeSH terms: Case Reports

Background:
Apparently balanced chromosome rearrangements (ABCRs) in non-affected individuals are well-known to possess high reproductive risks such as infertility, abnormal offspring, and pregnancy loss. However, caution should be exercised in genetic counseling and reproductive intervention because cryptic unbalanced defects and genome structural variations beyond the resolution of routine cytogenetics may not be detected.
Case presentation:
Here, we studied two familial cases of ABCRs were recruited in this study. In family 1, the couple suffered two abortions pregnancies and underwent labor induction. Single nucleotide polymorphism (SNP) array analysis of the aborted sample from the second pregnancy revealed a 10.8 Mb heterozygous deletion at 10q26.13q26.3 and a 5.5 Mb duplication at 19q13.41-q13.43. The non-affected father was identified as a carrier of three-way complex chromosomal rearrangement [t (6;10;19)(p22;q26;q13)] by karyotyping. Whole-genome mate-pair sequencing revealed a cryptic breakpoint on the derivative chromosome 19 (der19), indicating that the karyotype was a more complex structural rearrangement comprising four breakpoints. Three genes, FAM24B, CACNG8, and KIAA0556, were disrupted without causing any abnormal phenotype in the carrier. In family 2, the couple suffered from a spontaneous miscarriage. This family had an affected child with multiple congenital deformities and an unbalanced karyotype, 46,XY,der (11) t (6;11)(q13;p11.2). The female partner was identified as a balanced translocation carrier with the karyotype 46,XX,t (6;11)(q13;p11.2) dn. Further SNP array and fluorescent in situ hybridization (FISH) indicated a cryptic insertion between chromosome 6 and chromosome 11. Finally, whole-genome mate-pair sequencing revealed an extremely complex genomic structural variation, including a cryptic deletion and 12 breakpoints on chromosome 11, and 1 breakpoint on chromosome 6 .
Conclusions:
Our study investigated two rare cases of ABCRs and demonstrated the efficacy of whole-genome mate-pair sequencing in analyzing the genome complex structural variation. In case of ABCRs detected by conventional cytogenetic techniques, whole genome sequencing (WGS) based approaches should be considered for accurate diagnosis, effective genetic counseling, and correct reproductive intervention to avoid recurrence risks.
Agency over a phantom limb and electromyographic activity on the stump depend on visuomotor synchrony: a case study
Authors: Shu Imaizumi, Tomohisa Asai, Noriaki Kanayama, Mitsuru Kawamura, Shinichi Koyama
Journal: Front Hum Neurosci (2014)
Keywords: delayed visual feedback, mirror therapy, motor sensation, phantom limb, sense of agency

Most patients, post-amputation, report the experience of a phantom limb. Some even sense voluntary movements when viewing a mirror image of the intact limb superimposed onto the phantom limb. While delayed visual feedback of an action is known to reduce a sense of agency, the effect of delayed visual feedback on phantom motor sensation (i.e., sense of controlling a phantom limb) has not been examined. Using a video-projection system, we examined the effect of delayed visual feedback on phantom motor sensation in an upper-limb amputee (male; left upper-limb amputation). He was instructed to view mirrored video images of his intact hand clasping and unclasping during a phantom limb movement. He then rated the intensity of the phantom motor sensation. Three types of hand movement images were presented as follows: synchronous, asynchronous with a 250-ms delay, and asynchronous with a 500-ms delay. Results showed that phantom motor sensation decreased when the image was delayed by 250 and 500 ms. However, when we instructed the patient to adjust the phase of phantom limb movement to that of the image with a 500-ms delay, phantom motor sensation increased. There was also a positive correlation between intensity of phantom motor sensation and electromyographic (EMG) activity on deltoids at the patient's stump. These results suggest that phantom motor sensation and EMG activity on the stump depend on visuomotor synchrony and top-down effects.