OpenMed/multicare-articles huggingface dataset:
Autoimmune polyglandular syndrome type 3c with ectodermal dysplasia, immune deficiency and hemolytic-uremic syndrome
Authors: Mithat Büyükçelik, Mehmet Keskin, Özlem Keskin, Ali Bay, Beltinge Demircioğlu Kılıç, Yılmaz Kor, M Arda Kılınç, Ayşe Balat
Journal: J Clin Res Pediatr Endocrinol (2014)
MeSH terms: Ectodermal Dysplasia / pathology, Hemolytic-Uremic Syndrome / pathology, Immunologic Deficiency Syndromes / pathology, Polyendocrinopathies, Autoimmune / pathology, Case Reports, Child, Ectodermal Dysplasia / immunology, Female, Hemolytic-Uremic Syndrome / immunology, Humans, Immunologic Deficiency Syndromes / immunology, Polyendocrinopathies, Autoimmune / immunology, Prognosis, Immune Deficiency Disease

Autoimmune polyglandular syndrome (APS) is a disorder which is associated with multiple endocrine gland insufficiency and also with non-endocrine manifestations. The pathophysiology of APS is poorly understood, but the hallmark evidence of APS is development of autoantibodies against multiple endocrine and non-endocrine organs. These autoantibodies are responsible for the dysfunction of the affected organs and sometimes may also cause non-endocrine organ dysfunction. The hemolytic-uremic syndrome (HUS) is a serious and life-threatening disease which develops due to many etiological factors including autoimmune disorders. Here, we present an unusual case of APS. Ectodermal dysplasia with immune deficiency and HUS occurred concomitantly in the same patient with APS type 3c. Once the autoantibody generation was initiated in the human body, development of multiple disorders due to organ dysfunction and also autoantibody-related diseases may have occurred.
SpyGlass-Guided Photodynamic Therapy for Unresectable Cholangiocarcinoma: A Case Report and Review of the Literature
Authors: Jiangjiao Zhou, Li Xiong, Wei Liu, Chun Liu, Chao He, Heng Zou, Yu Wen, Liangwu Lin
Journal: Front Oncol (2022)
Keywords: case report, ercp, spyglass, cholangiocarcinoma, photodynamic therapy
MeSH terms: Case Reports

Endoscopic retrograde cholangiopancreatography (ERCP) and biliary stent placement are standard palliative care procedures for patients with unresectable cholangiocarcinoma. However, the bile duct mucosa cannot be observed directly during the placement of a light diffuser in photodynamic therapy (PDT) and biopsy. SpyGlass can solve the above two problems. In this paper, we report the case of a patient who presented with obstructive jaundice and underwent endobiliary stenting placement several times. However, cholangiocarcinoma hyperplasia still led to stent blockage. We applied SpyGlass to guide the accurate placement of a light diffuser and evaluated the tumor necrosis after PDT. Results revealed the good application effect of this device.
Full-mouth rehabilitation of an acromegaly disease patient with removable prostheses: a clinical case report
Authors: Sana Bekri, Wijdène Trifi, Amel Labidi, Chaima Bizani, Lamia Mansour
Journal: Pan Afr Med J (2019)
Keywords: acromegaly, rehabilitation, removable prosthodontics
MeSH terms: Acromegaly / complications, Dental Prosthesis, Mouth Rehabilitation / methods, Case Reports, Humans, Male, Middle Aged

Acromegaly is a rare disease that can have serious consequences. This disease is not widely known by stomatologists, although cranio-facial manifestations are important and rapid changes in the oral cavity are frequent and sometimes dramatic. The prosthetic management of patients with acromegaly is not easy because it is necessary to wait for the stabilization of the disease. If this is not the case, the bone changes prevent the stability of prostheses over time. Moreover, because of bone remodeling, some treatments are contra-indicated, which limits our therapeutic choices. Through this clinical case, we will focus on the oral manifestations of patients with acromegaly and the method of prosthetic management.
An Atypical Presentation of Hemophagocytic Lymphohistiocytosis (HLH) Secondary to Occult Hodgkin Lymphoma
Authors: Justin Komisarof, Kevin McGann, Alissa Huston, Hani Katerji, Mary Anne Morgan
Journal: Case Rep Hematol (2021)
MeSH terms: Case Reports

Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening syndrome of immune system dysregulation characterized by the phagocytosis of various cells by histiocytes in the bone marrow. HLH can present in one of the two ways: primary HLH, which is caused by mutations in genes essential to T and NK-cell function, and secondary HLH, typically caused by Epstein-Barr virus (EBV) infection or malignancy. Because of the rapid progression and high mortality of this disease, prompt diagnosis is essential to good outcomes. Here, we report the 2-month clinical course of a patient who presented with altered mental status and recurrent fever of unknown origin. Initially, he did not meet diagnostic criteria for HLH and had a negative bone marrow biopsy; however, he eventually progressed to full-blown HLH secondary to occult Hodgkin lymphoma. This case is unusual for the slow and smoldering course of the patient's disease and highlights the importance of aggressively searching for potential malignancies to ensure the initiation of definitive therapy as soon as possible.
Preterm Parturient with Polyhydramnios and Pancreatitis: Primary Presentation of Hyperparathyroidism
Authors: Esther S Han, Katherine Fritton, Phoebe Bacon, Martin K Slodzinski, Cynthia Argani
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Objective:
To report a case of severe hypercalcemia secondary to primary hyperparathyroidism in a late-preterm pregnant patient and review medical and surgical treatments as well as obstetric and neonatal outcomes.
Background:
Diagnosis of parathyroid disease during pregnancy can be difficult due to nonspecific presentation. Management decisions are complex and require multidisciplinary collaboration.
Case:
A 29-year-old G2P1001 woman at 35 weeks and 3 days' gestation presented with preterm contractions, polyhydramnios, pancreatitis, and severe hypercalcemia. Work-up revealed primary hyperparathyroidism with multiple thyroid nodules. Patient history, presentation, and biopsy were suspicious for parathyroid carcinoma. Despite severe hypercalcemia, both patient and fetus remained stable and medical management was pursued in an attempt to optimize mother and fetus prior to delivery. Due to recalcitrant hypercalcemia, surgical resection was ultimately required. She was subsequently delivered in the setting of preterm labor. Final pathology revealed parathyroid adenoma with atypia and occult papillary thyroid carcinoma.
Conclusion:
Symptoms of hypercalcemia can mimic those of a normal third trimester pregnancy and can have serious maternal and fetal effects if left untreated. A coordinated, multidisciplinary approach to these patients is necessary.
18F-FDG Positron Emission Tomography - An Innovative Technique for the Diagnosis of a Canine Lameness
Authors: Kelly Mann, Juliette Hart, Felix Duerr
Journal: Front Vet Sci (2016)
Keywords: canine, computed tomography, fluorodeoxyglucose, lameness, positron emission tomography
MeSH terms: Case Reports

Introduction:
Positron emission tomography (PET) imaging with fluorine-18-fluorodeoxyglucose (18F-FDG) is widely known for its use in the diagnosis and tracking of primary and metastatic tumors via uptake and retention of the radiopharmaceutical by hypermetabolic cells. 18F-FDG is also used to study the normal physiology of glucose uptake, metabolism, and muscle activity during and after exercise.
Background:
A pilot study adding PET imaging to the diagnostic evaluation of canine patients undergoing computed tomography (CT) for mild or intermittent thoracic and pelvic limb lameness is ongoing. Dogs with an observable (grade 1-2/5) lameness that have undergone routine radiography and complete physical examination by board-certified veterinary surgeons and sports medicine and rehabilitation specialists are enrolled. Each patient undergoes leash walking for 15 min prior to premedication and induction of general anesthesia for the PET-CT examination. 18F-FDG is injected intravenously, and a whole-body PET examination is conducted after 1 h of radiopharmaceutical uptake time. Standard algorithm, whole-body pre- and post-contrast CT examinations, and focused, standard, and bone algorithm CT scans of the thoracic or pelvic limb areas of interest are obtained concurrently. Abnormal PET-CT findings are further investigated with additional diagnostic imaging or at surgery (e.g., ultrasound, MRI, and arthroscopy).
Discussion:
This case report uses a canine patient referred for thoracic limb lameness to illustrate the role of advanced imaging in a diagnostic plan and to discuss a recommended PET-CT procedure for lameness evaluation. The PET-CT imaging protocol recommended in this report was designed to significantly enhance a routine thoracic limb CT examination and to identify areas of muscle, tendon, or ligament overuse, inflammation, or injury for further diagnostic procedures or definitive treatment.
Concluding remarks:
18F-FDG PET-CT adds valuable physiologic and anatomic information to the diagnostic evaluation of patients presenting with indistinct or intermittent clinical signs of musculoskeletal inflammation or injury. In addition, tailoring the PET acquisition and radiopharmaceutical parameters allows for detailed information gathering to more closely assess normal and abnormal physiology, unlocking a new frontier in the study of canine athletic injury and optimal performance.
Intestinal obstruction due to idiopathic mesenteric phlebosclerosis colitis: A case report
Authors: Jiaqi Shan, Fangci Chen, Panpan Yu
Journal: Front Surg (2022)
Keywords: chinese herbal medicine, idiopathic mesenteric phlebosclerosis colitis, intestinal obstruction, phlebosclerotic colitis, surgical procedure
MeSH terms: Case Reports

Introduction:
Idiopathic mesenteric phlebosclerosis colitis (IMP) is a rare condition that impairs colonic venous blood return owing to mesenteric venous sclerosis and fibrosis. At present, many studies have suggested that long-term intake of Chinese herbal medicines is associated with its pathogenesis. IMP has no characteristic clinical manifestations, and most patients with IMP present with acute intestinal obstruction. As a rare disease, the etiology, pathogenesis, pathophysiology, and treatment of IMP are being explored and studied.
Case description:
A 60-year-old Chinese male patient with IMP was admitted to our hospital for acute intestinal obstruction, received subtotal colectomy and ileostomy after 10 days of ineffective conservative treatment, and was discharged after postoperative supportive treatment for 1 month.
Conclusion:
There are many causes of intestinal obstruction, and we report a relatively rare one. After failure of conservative treatment, it is necessary to surgically resect part of the diseased bowel.
The ampulla of Vater: A potential target for metastatic melanoma?
Authors: David Armany, Preet Gosal, Stuart Adams
Journal: J Surg Case Rep (2023)
Keywords: acute pancreatitis, ampulla of vater, melanoma, metastatic, obstructive jaundice
MeSH terms: Case Reports

Malignant melanomas are aggressive cancers that can prove to be fatal, with Australia harbouring the highest incidence of skin cancers worldwide. Surprisingly, as little as 13.4% of patients undergoing surgical resection of high-risk melanomas remain disease-free after 2 years, with 31.6% showing evidence of distant spread. Although rare, secondary tumours of the ampulla of Vater have been documented, with the most common primaries involving breast, renal and melanoma cancers. We report the case of a malignant melanoma of the ampulla of Vater occurring in a patient 4-year post-surgical resection of a Stage II melanoma manifesting as acute pancreatitis with obstructive jaundice. Given the rarity of secondary ampullary tumours, metastatic melanoma should always be considered in patients with obstructive jaundice and a history of melanoma resection. In the absence of distant disease, surgery may be considered after consensus at multidisciplinary team meetings and after consideration of the patient preference.
An unusual case of Scedosporium apiospermum fungaemia in an immunocompetent patient with a left ventricular assist device and an implantable cardiac device
Authors: Shireen Yan Ling Tan, Shimin Jasmine Chung, Teing Ee Tan, Louis Teo, Ban Hock Tan, Yen Ee Tan
Journal: Access Microbiol (2020)
Keywords: scedosporium apiospermum, blood, cardiac device, fungaemia, immunocompetent, ventricular assist device
MeSH terms: Case Reports

Left ventricular assist device (LVAD)-related infections are a leading cause of morbidity and mortality, with fungal infections being particularly difficult to manage. We report a case of an immunocompetent 39-year-old male with an LVAD and an implantable cardiac device (ICD) who developed fatal Scedosporium apiospermum fungaemia. To the best of our knowledge, this is the first reported case of LVAD-related S. apiospermum fungaemia.
Should they stay or should they go? A case study on international students in Germany
Authors: Sascha Krannich, Uwe Hunger
Journal: Comp Migr Stud (2022)
Keywords: development, germany, global south, international student migration, scholarship programs, transnationalism

International students are conceived as essential contributors to the development of their countries of origin after they finished their studies abroad. Political decision-makers of the countries of origin therefore take measures that students will eventually return to their home countries and bring back their gained knowledge and consequently contribute to development back home. However, is a return always the best way to contribute to development in the country of origin or can international graduates contribute equally from abroad or through their high mobility between different countries? This article aims to address this question on the basis of an intensive three years mixed-methods-based investigation in six countries - Germany as country of study and Colombia, Georgia, Ghana, Indonesia and Israel/Palestinian territories as countries of origin. We investigated a specific German scholarship program, which gives scholarships to international students from the Global South to study in Germany. Although a return to the country of origin is a precondition for the scholarship, our study indicates that not only return migration, but also remains and circular migration can create beneficial circumstances that former students practice diverse development-related functions and therefore contribute to the development in their country of origin in a specific way. Here, it is important to recognize that scholarship programs do not only offer the opportunity to fund studying abroad, but they can be also designed for the needs of scholars during, before and after their studies, which would also benefit their developmental contributions.
Hemorrhagic shock from post-traumatic rupture of microcystic splenic lymphangioma: A case report and review of the literature
Authors: Giuseppe Evola, Giovanni Mazzone, Antonino Corsaro, Giovanna Brancato, Francesco Roberto Evola, Guido Basile
Journal: Int J Surg Case Rep (2020)
Keywords: case report, cystic lymphangioma, hemorrhagic shock, spleen, splenectomy
MeSH terms: Case Reports

Introduction:
Lymphangioma is an abnormal proliferation of lymphatic vessels. Isolated splenic lymphangioma (SL) is rare; in the last 30 years only 22 cases were reported in the literature. Diagnosis is difficult by the absence of typical symptoms and signs. SL is often asymptomatic and occasionally detected through radiological exams or, after the onset of a life-threatening complication, at surgery or pathological examination. Surgery represents the treatment of choice.
Presentation of case:
A 22-year-old Caucasian male was admitted to the Emergency Department after a car accident, complaining of sudden onset, severe, left upper quadrant abdominal pain. Abdominal examination revealed mild abdominal distention and a severe abdominal pain on superficial and deep palpation of left upper abdominal quadrant with obvious muscle guarding and rebound tenderness. Abdominal computed tomography scan showed splenic rupture with hemoperitoneum. Laboratory tests reported severe anemia. The patient received blood transfusions and was taken emergently to the operating room for exploratory laparotomy, evacuation of hemoperitoneum and splenectomy. The postoperative course was uneventful, the patient was discharged on the 7th post-operative day. Diagnosis of microcystic SL was made at pathological examination.
Discussion:
Post-traumatic splenic rupture may be favored by the presence of a unknown and asymptomatic isolated SL. Although different types of treatment of SL are reported in the literature, splenectomy represents the treatment of choice to avoid complications.
Conclusion:
Isolated SL is difficult to diagnose and suspect because of lack of pathognomonic symptoms and specific diagnostic signs. It can be diagnosed after the onset of a life-threatening complication. Splenectomy is the preferable definitive treatment.
Necrotizing Enterocolitis in a 34-Week Premature Infant with COVID-19
Authors: Mary K Mannix, Danielle Blood, Oscar G Gomez-Duarte, Lauren Davidson
Journal: Case Rep Infect Dis (2021)
MeSH terms: Case Reports

Coronavirus disease 2019 (COVID-19) is a viral respiratory infection caused by the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2). While SARS-CoV-2 is a leading cause of morbidity and mortality in older adults, COVID-19 also affects newborn infants in nurseries and the Neonatal Intensive Care Units (NICUs). The majority of infected neonates are believed to acquire SARS-CoV-2 by horizontal transmission, and most of them have asymptomatic or mild symptomatic infections. In rare cases, infants with COVID-19 may have severe complications resulting in death. We report a case of COVID-19 in a premature neonate born at 34 weeks gestational age who presented with hypothermia and respiratory distress and subsequently developed clinical and radiological signs of necrotizing enterocolitis (NEC). The neonate received medical management, including antibiotics, suspension of gastric feeds, and intensive NICU support. The neonate's clinical condition improved without surgical intervention, and after 10 days of antibiotics and gradual reestablishment of gastric feeds, patient health condition returned to normal, and weeks later, he was discharged home. COVID-19 in infants is frequently asymptomatic or associated with mild disease, and in rare cases, it may be associated with severe gastrointestinal complications including NEC.
Laparoscopic Retroperitoneal Nephron-Sparing Surgery Without Renal Artery Clamping with Preoperative Selective Arterial Embolization for Management of Right Renal Angiomyolipoma of Diameter 10 cm: A Case Report
Authors: Tatsuhiko Hoshii, Shinichi Morita, Yohei Ikeda, Go Hasegawa, Tsutomu Nishiyama
Journal: J Endourol Case Rep (2017)
Keywords: angiomyolipoma, arterial embolization, kidney, laparoscopic surgery, nephron-sparing surgery
MeSH terms: Case Reports

A 38-year-old female without the tuberous sclerosis complex was diagnosed with right renal angiomyolipoma of 10 cm in diameter. She underwent laparoscopic retroperitoneal nephron-sparing surgery without renal artery clamping with preoperative selective arterial embolization to avoid a significant risk of hemorrhage and the damage of the renal function during nephron-sparing surgery. The tumor was resected completely. The time taken to complete the procedure was 4 hours 11 minutes and blood loss was 780 mL. She was transfused 400 mL of autologous blood.
Case report: Complete and durable response to larotrectinib (TRK inhibitor) in an infant diagnosed with angiosarcoma harbouring a KHDRBS1-NTRK3 fusion gene
Authors: Catherine Cervi, Zoltán Sápi, Gábor Bedics, Erik Zajta, Lajos Hegyi, Judit Pápay, Katalin Dezső, Edit Varga, Katalin Mudra, Csaba Bödör, Monika Csóka
Journal: Front Oncol (2023)
Keywords: ntrk fusion gene, angiosarcoma, comprehensive genomic profiling (cgp), larotrectinib, neurotrophic tyrosine receptor kinase (ntrk), next-generation sequencing (ngs), paediatric soft tissue sarcoma, precision oncology
MeSH terms: Case Reports

Significant improvements in the survival rates of paediatric cancer have been achieved over the past decade owing to recent advances in therapeutic and diagnostic strategies. However, disease progression and relapse remain a major challenge for the clinical management of paediatric angiosarcoma. Comprehensive genomic profiling of these rare tumours using high-throughput sequencing technologies may improve patient stratification and identify actionable biomarkers for therapeutic intervention. Here, we describe the clinical, histopathological, immunohistochemical and molecular profile of a novel and precision medicine-informed case where a KHDRBS1-NTRK3 fusion determined by next-generation sequencing-based comprehensive genomic profiling led to complete and sustained remission (clinical and radiological response) in an otherwise incurable disease. Our patient represents the first paediatric angiosarcoma harbouring a targetable NTRK3 fusion in the literature and demonstrates the first example of targeting this alteration in angiosarcoma using larotrectinib, an NTRK inhibitor. Clinical and radiological remission was achieved in under two months of therapy, and the patient is currently in complete remission, 4 month after stopping larotrectinib therapy, which was given over 17 months with only mild side effects reported. Therefore, this remarkable case exemplifies the true essence of precision-based care by incorporating conventional pathology with the why, when, and how to test for rare oncogenic drivers and agnostic biomarkers in paediatric angiosarcoma.
Colon mucinous adenocarcinoma in childhood: a case report with emphasis on image findings
Authors: Antonio Muccillo, Edson Marchiori, Cláudia Renata Penna, Regina Rodrigues Guimarães, Gláucia Zanetti, Guilherme Abdalla, Nina Ventura, Carolina Lamas Constantino, Mariana Leite Pereira, Viviane Brandão, Pedro Martins, Rodrigo Canellas, Romulo Varella de Oliveira
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Colorectal cancer is extremely rare in children. We report a case of a 12-year-old boy who presented with a five-month history of weight loss and anorexia, associated with vomiting episodes, dizziness, fatigue, and dyspnea. On physical examination, a palpable abdominal mass was noticed on the right hypochondrium and flank. An imaging study was performed, which showed a solid mass on the right colon. The patient underwent incisional surgical biopsy, and subsequent histopathologic analysis revealed a colon mucinous adenocarcinoma.
Complete biochemical response after pulmonary metastasectomy in prostate adenocarcinoma
Authors: Jonathan Rush, Reet Pai, Rahul A Parikh
Journal: Exp Hematol Oncol (2017)
Keywords: metastasectomy, prostate adenocarcinoma, pulmonary metastasis
MeSH terms: Case Reports

Background:
Prostate cancer most commonly metastasizes to bones or lymph nodes, and metastatic prostate cancer is suggestive of disseminated disease. Metastatic disease is usually not amenable to surgery.
Case presentation:
The current report presents a unique case of in which the excision of a solitary pulmonary metastasis resulted in undetectable prostate-specific antigen.
Conclusion:
This case and others suggest metastasectomy could be considered in cases with solitary metastasis, and physicians should have a careful discussion regarding risks and possible benefits from surgical excision.