OpenMed/multicare-articles huggingface dataset:
Case report: Diagnosis of hereditary hemorrhagic telangiectasia (Osler Weber Rendu Syndrome) in a 23-year-old male presented with anemia and thrombocytopenia and its response to bevacizumab
Authors: Hamza Yunus, Said Amin, Furqan Ul Haq, Waqar Ali, Tanveer Hamid, Wajid Ali, Basharat Ullah, Payal Bai
Journal: Front Med (Lausanne) (2022)
Keywords: osler weber rendu syndrome, bevacizumab, case report, diagnosis, gastrointestinal bleeding, hereditary hemorrhagic telangiectasia, management, refractory anemia
MeSH terms: Case Reports

Osler Weber Rendu Syndrome (OWS) is characterized by the development of abnormally dilated blood vessels, which manifest as arteriovenous shunts (pulmonary, gastrointestinal, hepatic, and cerebral) and mucocutaneous telangiectasias (lips, tongue, and fingertips). It is an autosomal dominant disease with a defect in transforming growth factor beta superfamily genes. This defect results in increased angiogenesis and disruption of vessel wall integrity. The disease remains underreported, with occasional history of recurrent epistaxis, iron deficiency anemia, and gastrointestinal bleeding in moderate to severe cases. Diagnosis is based on clinical presentation and confirmed by genetic testing. Various local (nasal saline, air humidification, laser ablation, and electric cauterization for epistaxis and endoscopic Argon Plasma Coagulation-APC for active GI bleeding), surgical, and systemic (tranexamic acid and antiangiogenic agents like bevacizumab and thalidomide) treatment options are used depending upon disease severity. Here, we present a case with recurrent gastrointestinal bleeding refractory to endoscopic APC ablation and thalidomide and severe symptomatic anemia requiring multiple packed red cell transfusions. The patient was ultimately started on bevacizumab, to which he had a good response and has remained in remission for 8 months as of now. This case emphasizes the need to have a low threshold of suspicion to diagnose HHT and start targeted therapy like bevacizumab early on in moderate to severe cases of HHT rather than just relying on temporizing palliative measures like ablation, cauterization, and tranexamic acid.
Surgical Treatment of Upward Fixation of the Patella in a Multiparous Borana Breed Cow
Authors: Cheru Telila, Jiregna Dugassa
Journal: Case Rep Vet Med (2022)
MeSH terms: Case Reports

A 6-year-old multiparous Borana breed cow, which has been suffering from difficulty walking for 6 months, was presented to veterinary teaching hospital. As her previous history indicated, the lameness started during the second gestation, especially in the early morning, and subsides after a few hours of sunrise. She was completely cured after giving her second birth and a similar condition reappeared from the 5th month of the third gestation until she gave birth. However, unexpectedly the disease aggravated after 2 days of parturition, and she was unable to walk and forced to stay indoors due to complete extension of the stifle joint. As a result, she was unable to lay down and maintained a permanent standing position for 2 months of aggravation. Clinical findings showed difficult mobilization of the right hind leg, which was locked in extension at the stifle joint, and the hoof was dragging on the floor. Based on history and clinical findings, upper fixation of the patella was diagnosed, and it was treated with median patellar desmotomy under local anesthetic infiltration. Finally, after the complete severing of the medial ligament and skin closure, the animal was able to walk normally, and the wound was healed uneventfully.
Polypoid arteriovenous malformation of the rectum: A case report
Authors: Dimitri Krizzuk, Maria Cotesta, Giampaolo Galiffa, Ilaria Peluso, Francesco Falbo, Andrea Biancucci, Sara Puscio, Chiara Michelotto, Carolina Pasecinic, Gioacchino Maria Montalto, Francesco Sammartino
Journal: Front Surg (2022)
Keywords: intestinal arteriovenous malformation, laparoscopic rectal resection, polypoid arteriovenous malformation of the rectum, rectal bleeding, rectal polyp
MeSH terms: Case Reports

Background:
Intestinal arteriovenous malformation is an abnormal connection between arteries and veins that bypasses the capillary system and may be a cause of significant lower gastrointestinal bleeding. On endoscopy, arteriovenous malformations are usually flat or elevated, bright red lesions. Overall, rectal localization of arteriovenous malformations is rare. The same may be said about polypoid shape arteriovenous malformations. Herein, we present a case of a large rectal polypoid arteriovenous malformations.
Methods:
Clinical, diagnostic, and treatment modalities of the patient were reviewed. Pre- and post-operative parameters were collected and analyzed. The clinical English literature is also reviewed and discussed.
Results:
A 60-year-old female patient was admitted to our emergency department for rectorrhagia and anemia. Rectoscopy revealed a polypoid lesion in the rectum and the biopsy showed fibrosis, necrosis areas, and hyperplastic glands. A total body contrast-enhanced computed tomography (CT) was performed revealing a parietal pseudonodular thickening with concentric growth and contrast enhancement, extending for about 53 mm. The mass wasn't removed endoscopically due to concentric growth, sessile implant, and submucosal nature. The patient underwent an uneventful laparoscopic anterior rectal resection. The postoperative hospitalization was free of complications. Histology showed the presence of a polypoid AVM composed of dilated arteries, veins, capillaries, and lymphatics, engaging the submucosa, muscularis, and subserosa layer.
Conclusion:
After a review of the current English literature, we found only one case of rectal polypoid AVM. The scarcity of documented cases encumbers optimal diagnostic and treatment approaches.
Rare primary bladder mucosa-associated lymphoid tissue lymphoma: A case report and review of literature
Authors: Xi Tu, Xiyao Zhuang, Fen Li, Chaoyou Huang, Youliang Qian
Journal: Front Oncol (2023)
Keywords: malt lymphoma, nhl, bladder, diagnosis, treatment
MeSH terms: Case Reports

Primary bladder mucosa-associated lymphoid tissue (MALT) lymphoma is an extremely rare bladder tumor. Only scarce reports have been reported. We hereby report a case of an 81-year-old female patient with bladder tumor presenting with frequent urination and dysuria, whose pelvic magnetic resonance imaging (MRI) considered bladder cancer. She underwent transurethral resection of the bladder tumor (TURBT), and histopathology confirmed the mass to be bladder MALT lymphoma. The patient refused further treatment, and no disease recurrence one year after surgery. The current data are insufficient to draw conclusions about the long-term efficacy of treatment for this tumor, regular follow-up is necessary. To further understand the clinical features, pathology, treatment and prognosis of this tumor, we have searched the literature from 1990 to the present, analyzing a total of 64 cases of primary MALT lymphoma.
IgE-Mediated allergy to wheat in a child with celiac disease - a case report
Authors: Tiffany Wong, Hin Hin Ko, Edmond S Chan
Journal: Allergy Asthma Clin Immunol (2014)
Keywords: allergy, celiac disease, wheat
MeSH terms: Case Reports

Introduction:
Celiac disease and immediate type hypersensitivity to wheat are immune responses with different pathogenic mechanisms. Both diseases are well known entities but their coexistence in the same patient is rarely reported. This is a unique case presentation of a patient with celiac disease who developed concomitant IgE-mediated wheat allergy and presented with immediate symptoms in two body systems.
Case presentation:
We report the case of a girl with celiac disease who subsequently developed IgE-mediated hypersensitivity to wheat. The patient is a Caucasian female who was diagnosed with celiac disease at 18 months of age after presenting with recurrent vomiting and failure to thrive. Her anti-tTG antibody level was greater than 200 E.U. and biopsy results from endoscopy were consistent with celiac disease. Specific IgE antibody to wheat was negative at 2 years of age. Around seven years of age, she developed immediate symptoms of urticaria, cough and shortness of breath with accidental exposures to wheat. Specific IgE antibody testing was repeated and positive to wheat (42.5 kU/L), as well as rye (33.9 kU/L), barley (53.4 kU/L) and oat (11.3 kU/L). At 9 years of age, skin prick testing was positive to wheat, barley and rye but negative to oat. The patient has subsequently tolerated an open oral food challenge to oat. She continues to avoid wheat, rye and barley and carries an epinephrine autoinjector at all times.
Conclusion:
To our knowledge, this is the first report of a patient with celiac disease and concomitant IgE-mediated allergy to wheat presenting with immediate symptoms in two body systems. Although the pathophysiology of these diseases is different, this case demonstrates that they are not exclusive of one another. In patients who develop unexplained symptoms consistent with IgE-mediated allergy, an allergy assessment should be considered.
Severe Human Granulocytic Anaplasmosis With Significantly Elevated Ferritin Levels in an Immunocompetent Host in Pennsylvania: A Case Report
Authors: Mona L Camacci, Ronaldo Paolo Panganiban, Zachary Pattison, Kamyar Haghayeghi, Alexander Daly, Cindy Ojevwe, Ryan J Munyon
Journal: J Investig Med High Impact Case Rep (2018)
Keywords: hemophagocytic lymphohistiocytosis, human granulocytic anaplasmosis, hyperferritinemia

Human granulocytic anaplasmosis (HGA) is a tick-borne, infectious disease caused by Anaplasma phagocytophilum that generally presents with nonspecific symptoms such as fever, chills, headache, malaise, and myalgia. If not treated immediately, HGA can cause hemophagocytic lymphohistiocytosis (HLH), a well-documented but underrecognized sequela of severe HGA. In this article, we report a case of severe HGA with hyperferritinemia in a 74-year-old male from Central Pennsylvania who initially presented with recurrent fevers, nausea, and malaise to our emergency department and was subsequently discharged home that same day. Ten days later, the patient returned with acute kidney injury, elevated liver transaminases, and profound hyperferritinemia to 5130 ng/mL. Empiric doxycycline was administered for suspected tick-borne disease and serologies eventually came back positive for anti-Anaplasma phagocytophilum antibodies. The patient returned to baseline status 15 days after discharge. Our case shows the challenges in the timely diagnosis of HGA and highlights the role of serum ferritin in aiding this diagnosis. Although our patient did not fulfill the HLH diagnostic criteria, our report demonstrates the importance of recognizing HGA as a reversible cause of HLH.
Ectopic prolactin secretion secondary to an ovarian tumour
Authors: Sowmya Gururaj, K Nisal, Q Davies, S Deen, P G McNally
Journal: Endocrinol Diabetes Metab Case Rep (2013)

Ectopic hormone secretion is a well-recognised phenomenon; however, ectopic prolactin secretion is exceptionally rare. Hoffman and colleagues reported the first ever well-documented case of ectopic prolactin secretion secondary to a gonadoblastoma. We report a lady who presented with galactorrhoea and a large ovarian tumour that was found to secrete high levels of prolactin.
Learning points:
Aim of this case report is to highlight the occurrence of this condition.Lack of awareness can often lead to a diagnostic conundrum.
Basal ganglia stroke due to mild head trauma in pediatric age - clinical and therapeutic management: a case report and 10 year literature review
Authors: Alessandro Landi, Nicola Marotta, Cristina Mancarella, Daniele Marruzzo, Maurizio Salvati, Roberto Delfini
Journal: Ital J Pediatr (2011)
MeSH terms: Basal Ganglia / blood supply, Craniocerebral Trauma / complications, Stroke / etiology, Case Reports, Administration, Oral, Anticoagulants / administration & dosage, Cerebral Angiography, Craniocerebral Trauma / diagnosis, Craniocerebral Trauma / drug therapy, Diagnosis, Differential, Diuretics, Osmotic / administration & dosage, Drug Therapy, Combination, Female, Humans, Infant, Magnetic Resonance Imaging, Risk Factors, Stroke / diagnosis, Stroke / drug therapy, Trauma Severity Indices, Anticoagulants, Diuretics, Osmotic

Ischemia of the basal ganglia as an immediate consequence of minor head injury in children is rare (< 2% of all ischemic stroke in childhood) and is due to vasospasm of the lenticulostriate arteries. The clinical history of these lesions is particularly favourable because they are usually small, and also because the facial-brachial-crural hemiparesis typical of this pathology usually regresses after a period ranging from several weeks to several months, despite the persistence of an ischemic area on MRI. This is due to the well known neuronal plasticity of the CNS, in particular, of the primary motor cortex. The most effective therapeutic approach appears to be the conservative one, although the best treatment regimen is still not well defined.Young patients should be closely monitored and treated conservatively with osmotic diuretics to reduce perilesional edema. At the same time, however, it is very important to exclude, by means of instrumental and laboratory studies, conditions that could favour the onset of ischemia, including emboligen heart disease, thrombophilia and acute traumatic arterial dissections. Generally speaking, the prognosis in these cases is good. The authors describe their experience treating a 10-month old baby girl, with a left lenticular nucleus ischemia and report a literature review.
Slowly progressive interstitial lung disease preceding typical dermatomyositis symptoms in anti-melanoma differentiation-associated gene 5 antibody-positive clinically amyopathic dermatomyositis
Authors: Taisuke Isono, Hiromi Nakajima, Kenji Takano, Yoichi Kobayashi, Yoshinori Kawabata, Yoshihiko Shimizu, Noboru Takayanagi
Journal: Respir Med Case Rep (2021)
Keywords: anca, cytoplasmic autoantibody, anti-melanoma differentiation-associated gene 5, bal, bronchoalveolar lavage, cadm, clinically amyopathic dermatomyositis, cmv, cytomegalovirus, ct, computed tomography, clinically amyopathic dermatomyositis, dm, dermatomyositis, hrct, high-resolution computed tomography, ild, interstitial lung disease, ivcy, intravenous cyclophosphamide, interstitial lung disease, kl-6, krebs von den lungen-6, mda5, anti-melanoma differentiation-associated gene 5, psl, prednisolone, pao2, partial pressure of oxygen, rp-ild, rapidly progressive interstitial lung disease, slb, surgical lung biopsy, slowly progressive, surgical lung biopsy, tblb, transbronchial lung biopsy
MeSH terms: Case Reports

A 73-year-old woman who visited our hospital complaining of dry cough for three months was refractory to antimicrobial therapy. Chest computed tomography revealed subpleural consolidation. Specimens obtained from surgical lung biopsy revealed subpleural perilobular airspace organization and fibrosis. After the biopsy, mechanic's hand and Gottron's papules appeared, and anti-melanoma differentiation-associated gene 5 (MDA5) antibody was found to be positive. Subsequently, anti-MDA5 antibody measured in cryopreserved serum from her first admission proved to be positive. It is difficult to suspect the presence of anti-MDA-5 antibody in patients with interstitial lung disease without typical dermatomyositis symptoms or slow disease progression.
Missed Capitellar Fracture Caused by Avoidance of Radiological Evaluation in Pregnancy
Authors: Barış Polat, Ramadan Özmanevra, Deniz Aydın, Enes Sarı, Mehmet Yalçınozan
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

In this paper, we report a pregnant woman with a missed capitellar fracture of the elbow, who was treated successfully with open reduction and internal fixation using two headless screws. A 29-year-old 6-month pregnant woman presented to the emergency department due to a history of falling on her outstretched hand. A long-arm splint was applied without radiological evaluation due to pregnancy. She came to the orthopaedics and traumatology outpatient clinic 6 weeks after trauma and her examination after splint removal revealed pain and restriction in the elbow joint movements. Radiography was taken by using a lead shield in order to protect the fetus. Radiographs showed a displaced osteochondral capitellar fracture. Using the posterolateral approach as described by Kocher, the fracture was fixed using headless canulated compression screws. The follow-up examination showed excellent functional and radiological results. Radiological evaluation should not be avoided in case of obvious fracture findings after trauma even in case of pregnancy. It is also highlighted that good results in terms of union and functional recovery can be achieved with open reduction and headless compression screw fixation followed by early rehabilitation even in delayed treatment of capitellum fractures.
Hairy cell leukemia in kidney transplantation: lesson from a rare disorder
Authors: Fabrizio Vinante, Paola Tomei, Gianluigi Zaza, Alberto Zamò, Antonio Lupo
Journal: Exp Hematol Oncol (2013)
Keywords: braf, calcineurin inhibitors, hairy cell leukemia, immunosuppression, kidney transplantation, post-transplant cancer, post-transplant lymphoproliferative disease, treatment, v600e braf
MeSH terms: Case Reports

We report here on the diagnosis and successful treatment of a case of hairy cell leukemia (HCL) that arose 15 years after kidney transplantation in a 51-year-old patient. As soon as the diagnosis was made, HCL was treated with 2-CDA, obtaining complete hematological remission. Immunosuppression with the calcineurin inhibitor cyclosporin was maintained, and the graft was preserved. In kidney transplant recipients supported with immunosuppressive drugs, post-transplant lymphoproliferative diseases (PTLDs) are frequent and typically related to immunosuppression via a loss of control of infectious/EBV-related proliferative stimuli. To date, HCL has not been considered among PTLDs. Recently, however, the oncogenic mutation V600E of the BRAF protein kinase has been found to be a hallmark of HCL, and calcineurin inhibitors have been shown to interfere with signaling downstream of V600E BRAF early on by counteracting senescence-associated mechanisms that protect against the oncogenic potential of the mutated kinase. Such a biochemical link between the oncogene-dependent signaling and calcineurin inhibitor activities suggests that HCL in transplanted patients might be a peculiar type of PTLD based on the presence of a specific mutation. This mechanism might also be involved in other neoplasias bearing the same or similar mutations, such as melanoma and non-melanoma skin cancer.
NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms
Authors: Vanessa Zanette, Daniel do Valle, Bruno Augusto Telles, Alan J Robinson, Vaneisse Monteiro, Mara Lucia S F Santos, Ricardo Lehtonen R Souza, Cristiane Benincá
Journal: Genet Mol Biol (2021)

Mitochondrial complex I (CI) deficiency is the most common oxidative phosphorylation disorder described. It shows a wide range of phenotypes with poor correlation within genotypes. Herein we expand the clinics and genetics of CI deficiency in the brazilian population by reporting three patients with pathogenic (c.640G>A, c.1268C>T, c.1207dupG) and likely pathogenic (c.766C>T) variants in the NDUFV1 gene. We show the mutation c.766C>T associated with a childhood onset phenotype of hypotonia, muscle weakness, psychomotor regression, lethargy, dysphagia, and strabismus. Additionally, this mutation was found to be associated with headaches and exercise intolerance in adulthood. We also review reported pathogenic variants in NDUFV1 highlighting the wide phenotypic heterogeneity in CI deficiency.
Case report: A unique quadruple coexisting anomaly-scimitar syndrome, atrial septal defect, vascular ring, and pulmonary sequestration
Authors: Marcin Gładki, Paweł R Bednarek, Wojciech Owecki
Journal: Front Pediatr (2023)
Keywords: atrial septal defect, pediatric cardiac surgery, pulmonary sequestration, scimitar syndrome, vascular ring
MeSH terms: Case Reports

The article describes a successful clinical outcome in the case of a 5-month old female with a diagnosis of incomplete vascular ring of aberrant right subclavian artery and ostium secundum atrial septal defect associated with partial anomalous pulmonary venous return of scimitar syndrome type, coexisting with right pulmonary sequestration. During hospitalization, surgical correction of the heart defect and resection of the lung sequestration were performed. To the best of our knowledge, described constellation of defects is a unique phenomenon, posing a challenge for complex treatment and disease management.
Cystic Lymphangioma: Are Triglycerides Always Measurable?
Authors: Silke François, Manuella Martin, Olivier Costa, Daniel Urbain, Fazia Mana
Journal: Case Rep Gastrointest Med (2018)
MeSH terms: Case Reports

The presence of chylous fluid with high triglycerides levels on endoscopic ultrasound- (EUS-) guided fine needle aspiration (FNA) is very pathognomonic for the diagnosis of cystic lymphangiomas of the pancreas. In our case report the puncture of the pancreatic cyst showed a typical milky fluid though measurable triglyceride concentrations were absent in the laboratory. Two possible explanations were found. First of all grossly lipemic samples show a slower rate of color development than do clear serums which can produce a false negative result if the sample is insufficiently diluted. Secondly, high lipase levels can divide triglycerides in glycerol and fatty acids, making the concentration of triglycerides undetectable.
Case Report: Effective and Safe Treatment With Certolizumab Pegol in Pregnant Patients With Cogan's Syndrome: A Report of Three Pregnancies in Two Patients
Authors: Nils Venhoff, Jens Thiel, Markus A Schramm, Ilona Jandova, Reinhard E Voll, Cornelia Glaser
Journal: Front Immunol (2021)
Keywords: certolizumab pegol, cogan’s syndrome, tnf-α inhibitor, pregnancy, vasculitis
MeSH terms: Certolizumab Pegol / therapeutic use, Cogan Syndrome / drug therapy, Immunosuppressive Agents / therapeutic use, Pregnancy Complications / drug therapy, Case Reports, Adult, Female, Humans, Pregnancy, Immunosuppressive Agents, Certolizumab Pegol

Cogan's syndrome is a rare autoimmune disease characterized by ocular inflammation and audiovestibular manifestations. Treatment consists of systemic glucocorticoids and other immunosuppressive agents including methotrexate, cyclophosphamide and TNF-α-inhibitors. Due to potential ovarian or fetal toxicity immunosuppressive treatment options are limited during pregnancies. Thus far there is a paucity of reports on pregnancies in Cogan's syndrome. With minimal transplacental transfer, Certolizumab pegol is considered to be safe for the use in pregnant patients with underlying inflammatory diseases. However, there is no literature on the use of this TNF-α-inhibitor in Cogan's syndrome in general and especially during gestation. Here we report three pregnancies in two Cogan's Syndrome-patients treated with Certolizumab pegol. Treatment with Certolizumab pegol was effective and well tolerated in patients with Cogan's syndrome and seems to be a safe treatment option during pregnancy.