OpenMed/multicare-articles huggingface dataset:
Unique case of profound iatrogenic hypercalcemia in a patient with recent orthopedic prosthetic infection
Authors: Yela Jung, Kyaw Moe, Everado Arias Torres, Kamyar Kalantar-Zadeh, Ramy M Hanna
Journal: Clin Nephrol Case Stud (2020)
Keywords: stimulan beads, bisphosphonates, hypercalcemia, normal saline, symptomatic hypercalcemia
MeSH terms: Case Reports

Hypercalcemia is a common electrolyte disorder and is typically caused by parathyroid-dependent and parathyroid-independent causes. The most common parathyroid-independent causes include malignancy, granulomatous diseases, over-supplementation with calcium, and hypervitaminosis D. We present an unusual case of a woman who had Stimulan implanted after an artificial knee joint infection. When a washout was done, the patient's serum calcium started rising, peaking at an astounding 21.2 mg/dL (normal range 8.4 - 10.2 mg/dL) with acute kidney injury. After aggressive hydration and treatment with furosemide, bisphosphonates, and calcitonin, the serum calcium dropped to 10.1 mg/dL. A full hypercalcemia workup did not reveal an alternate cause. On further investigation, it was found that Stimulan is calcium based, and the agitation of these beads during washout was hypothesized to result in the observed profound hypercalcemia.
Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum
Authors: Anne Noreau, Philippe Beauchemin, Alexandre Dionne-Laporte, FORGE Canada, Patrick A Dion, Guy A Rouleau, Nicolas Dupré
Journal: Cerebellum Ataxias (2014)
Keywords: ataxia, cerebellar, mutations, pmm2, whole exome sequencing
MeSH terms: Case Reports

Two affected and one unaffected siblings from a French-Canadian family were evaluated in our neurogenetic clinic. The oldest brother had intentional and postural hand tremor while his youngest sister presented mild ataxia, a similar hand tremor and global developmental delay. Brain MRIs of the two affected family members further revealed a significant cerebellar atrophy. For this study we conducted a whole exome sequencing (WES) investigation using genomic DNA prepared from the affected brother and sister, alongside DNA prepared from their unaffected mother, and identified two mutations previously reported to cause a rare disorder known as Congenital Disorder of Glycosylation, type Ia (CDG1A) (OMIM #212065). This study emphasizes how the diagnosis of patients presenting a mild tremor phenotype associated with cerebellar atrophy may benefit from WES in establishing genetic defects associated with their conditions.
Acute Appendicitis after Liver Transplantation: A Case Report and Review of the Literature
Authors: S E Sheppard, H L Marecki, C M Psoinos, B Movahedi, M J Furman, A Bozorgzadeh, P N Martins
Journal: Int J Organ Transplant Med (2017)
Keywords: abdomen, appendectomy, appendicitis, laparoscopy, liver transplant, acute
MeSH terms: Case Reports

Acute appendicitis is one of the most common etiologies for acute abdomen. However, fewer than 30 cases of acute appendicitis after liver transplantation have so far been reported in the literature. Previous case studies have concluded that acute appendicitis after liver transplantation may present differently than in non-immunosuppressed patients and thus may lead to more complications. Herein, we describe the fourth case of laparoscopic appendectomy in a 40-year-old female presenting with an acute abdomen, 10 years after orthotopic liver transplantation for autoimmune hepatitis. Additionally, we review the literature, and emphasize the importance for laparoscopic, rather than open appendectomy after liver transplantation. Overall, despite the small number of reported cases of appendicitis after orthotopic liver transplantation, we found the incidence and clinical presentation are similar to patients without liver transplantation. The etiologies for appendicitis in patients after liver transplantation may be different than in those not chronically immunosuppressed, with significantly less lymphoid hyperplasia and increased fecalith and cytomegaloviral infections. Preliminary results showed that laparoscopic appendectomy after liver transplantation results in decreased hospital stays and fewer complications.
A case report of pulmonary hepatoid adenocarcinoma: promoting standardized diagnosis and treatment of the rare disease
Authors: Kun Xu, Jin Gao, Lili Feng, Ying Fang, Xiuliang Tang
Journal: Front Immunol (2023)
Keywords: diagnosis and differential diagnosis, genetic testing, immunohistochemistry, lung cancer, pulmonary hepatoid adenocarcinoma
MeSH terms: Adenocarcinoma of Lung / diagnosis, Adenocarcinoma of Lung / therapy, Adenocarcinoma / diagnosis, Adenocarcinoma / genetics, Adenocarcinoma / therapy, Carcinoma, Hepatocellular / diagnosis, Carcinoma, Hepatocellular / pathology, Carcinoma, Hepatocellular / therapy, Liver Neoplasms / diagnosis, Liver Neoplasms / genetics, Liver Neoplasms / therapy, Lung Neoplasms / diagnosis, Lung Neoplasms / genetics, Lung Neoplasms / therapy, Case Reports, Research Support, Non-U.S. Gov't, Aged, Biomarkers, Tumor, Humans, Male, Rare Diseases, Biomarkers, Tumor

Objective:
To investigate the clinical features, pathological characteristics, immunophenotype, differential diagnosis and prognosis of pulmonary hepatoid adenocarcinoma using a clinical case and literature report.
Methods:
We analyzed the clinical presentation, histological pattern and immunohistochemistry of a case of primary hepatoid adenocarcinoma of the lung in April 2022. We also reviewed literature on hepatoid adenocarcinoma of the lung from PubMed database.
Results:
The patient was a 65-year-old male with smoking history, who was admitted to hospital with an enlarged axillary lymph node. The mass was round, hard, and grayish-white and grayish-yellow in color. Microscopically, it presented hepatocellular carcinoma-like and adenocarcinoma differentiation features, with abundant blood sinuses visible in the interstitium. Immunohistochemistry showed that the tumor cells were positive for hepatocyte markers, including AFP, TTF-1, CK7 and villin, and negative for CK5/6, CD56, GATA3, CEA and vimentin.
Conclusion:
Pulmonary hepatoid adenocarcinoma is a rare epithelial malignancy of primary origin in the lung with poor prognosis. Establishing the diagnosis relies mainly on the detection of hepatocellular structural morphology resembling hepatocellular carcinoma, and on clinicopathological and immunohistochemical testing to exclude diseases such as hepatocellular carcinoma. Combination treatment, mainly surgery, can prolong the survival of early-stage cases of the disease, whereas radiotherapy is mostly used for intermediate and advanced cases. Individualized treatment with molecular-targeted drugs and immunotherapy has shown different therapeutic effects for different patients. Further research is needed to better understand this rare clinical condition for the development and optimization of treatment strategies.
Reversible Fetal Renal Impairment following Angiotensin Receptor Blocking Treatment during Third Trimester of Pregnancy: Case Report and Review of the Literature
Authors: Tal Saar, Lorinne Levitt, Hagai Amsalem
Journal: Case Rep Obstet Gynecol (2016)

Background. Late pregnancy usage of angiotensin converting enzyme inhibitors (ACE-I) and angiotensin II receptor blockers (ARB) may cause severe oligohydramnios due to fetal renal impairment. Affected neonates will often suffer from fatal, renal, and respiratory failure. Case. A 39-year-old multigravida admitted due to anhydramnios secondary to valsartan (ARB) exposure at 30 weeks' gestation. Following secession of treatment amniotic fluid volume returned to normal. Delivery was induced at 34 weeks' gestation following premature rupture of membranes and maternal fever. During the two-year follow-up, no signs of renal insufficiency were noted. Conclusions. This description of reversible fetal renal damage due to ARB intake during pregnancy is the first to show no adverse renal function in a two-year follow-up period. This case may help clinicians counsel patients with pregnancies complicated by exposure to these drugs.
Application of microarray-based comparative genomic hybridization in prenatal and postnatal settings: three case reports
Authors: Jing Liu, Francois Bernier, Julie Lauzon, R Brian Lowry, Judy Chernos
Journal: Genet Res Int (2011)
MeSH terms: Case Reports

Microarray-based comparative genomic hybridization (array CGH) is a newly emerged molecular cytogenetic technique for rapid evaluation of the entire genome with sub-megabase resolution. It allows for the comprehensive investigation of thousands and millions of genomic loci at once and therefore enables the efficient detection of DNA copy number variations (a.k.a, cryptic genomic imbalances). The development and the clinical application of array CGH have revolutionized the diagnostic process in patients and has provided a clue to many unidentified or unexplained diseases which are suspected to have a genetic cause. In this paper, we present three clinical cases in both prenatal and postnatal settings. Among all, array CGH played a major discovery role to reveal the cryptic and/or complex nature of chromosome arrangements. By identifying the genetic causes responsible for the clinical observation in patients, array CGH has provided accurate diagnosis and appropriate clinical management in a timely and efficient manner.
Acute Acalculous Cholecystitis with Empyema due to Salmonellosis
Authors: Georgios D Lianos, Panagiota Drosou, Rizos Souvatzoglou, Anastasia Karampa, Georgios Vangelis, Emmanouil Angelakis, Vassilios Pappas, Epameinontas Lekkas
Journal: Case Rep Gastrointest Med (2019)
MeSH terms: Case Reports

Empyema of acalculous gallbladder in the setting of salmonellosis represents an extremely rare and life-threatening clinical condition in adults. In this unique case report, we deal with a previously healthy patient who developed acalculous cholecystitis and empyema due to infection by Salmonella. He underwent explorative laparotomy in emergency setting, and cholecystectomy was performed due to his toxic clinical condition. Empyema of gallbladder was revealed and cultures were collected. A combination of antibiotics (ciprofloxacin and metronidazole) was set, and the patient was discharged 8 days after the surgical operation in good condition. It has to be highlighted that acalculous cholecystitis is a rare entity, mostly at critically ill patients, and treatment options depend on clinical condition, risk factors, and etiology. To our knowledge, this is the first case report dealing with acalculous cholecystitis with empyema due to salmonellosis up to date. Although it is extremely rare, high index of suspicion is needed by the operating surgeon in order to avoid unfavorable outcomes.
Case Report: IgG multiple myeloma and chronic myeloid leukemia in a single patient
Authors: Neeraja Swaminathan, Sorab Gupta, Claudia Dourado
Journal: F1000Res (2020)
Keywords: cml, mgus, chronic myeloid leukemia, multiple myeloma
MeSH terms: Leukemia, Myelogenous, Chronic, BCR-ABL Positive / drug therapy, Monoclonal Gammopathy of Undetermined Significance, Multiple Myeloma / drug therapy, Case Reports, Bortezomib / therapeutic use, Dexamethasone / therapeutic use, Humans, Imatinib Mesylate / therapeutic use, Immunoglobulin G, Male, Middle Aged, Thalidomide / therapeutic use, Immunoglobulin G, Thalidomide, Bortezomib, Dexamethasone, Imatinib Mesylate

A 58-year-old man presented with recurrence of chronic myeloid leukemia (CML) after complete molecular remission in the setting of non-compliance with imatinib. He was restarted on imatinib and was also noted to have IgG kappa monoclonal gammopathy of undetermined significance (MGUS). The patient re-achieved molecular remission after resumption of imatinib, but his MGUS progressed to smoldering myeloma and he was eventually diagnosed with multiple myeloma (MM) and initiated on treatment for MM with thalidomide, bortezomib and dexamethasone. He has responded well to treatment of the myeloma and continues concurrent maintenance imatinib treatment for CML and is being evaluated for bone marrow transplant. The association of two concurrent hematological malignancies, CML and MM, is very rare and has been infrequently reported in literature. The pathophysiology of this has not yet been fully understood. This case report reviews the various theories to explain this and discusses the potential challenges of simultaneous treatment of MM and CML.
Nasopharyngeal leiomyomatous hamartoma: case report
Authors: Takanori Nishiyama, Yasumasa Kato, Yuh Baba
Journal: BMC Ear Nose Throat Disord (2014)
Keywords: hamartoma, nasopharynx, otolaryngologic tumor
MeSH terms: Case Reports

Background:
Fibroma, neurofibroma, and papilloma are the most commonly encountered benign lesions in the nasopharynx. Hamartomas are non-neoplastic overgrowth of mature/differentiated tissue indigenous to the specific part of the body in which they develop. Most hamartomas are located in the liver, spleen, lungs, and pancreas. However, nasopharyngeal hamartoma is rare.
Case presentation:
We describe here a 77-year-old Japanese woman who presented with a mass arising from the left lateral wall of the nasopharynx. Computed tomography (CT) revealed a soft tissue mass without bony erosion, suggesting that the mass was a benign tumor such as a fibroma. Pathological examination showed that the mass was a leiomyomatous hamartoma.
Conclusion:
To our knowledge, this is the first report of a leiomyomatous hamartoma in the nasopharynx. Although leiomyomatous hamartoma in the nasopharynx is extremely rare, it should be kept in mind during differential diagnosis.
Serratia marcescens Endocarditis with Perivalvular Abscess Presenting as Atrioventricular Block
Authors: Aaron Richardson, Andres Martinez, Shreya Ghetiya, Emil Missov, Robert Percy, Srinivasan Sattiraju
Journal: Case Rep Infect Dis (2020)
MeSH terms: Case Reports

Serratia marcescens is an aerobic, Gram-negative bacillus first identified in 1819 (Yeung et al. 2018). S. marcescens infective endocarditis is extremely rare accounting for only 0.14% of all cases (Phadke and Jacob 2016, Hadano et al. 2012, Nikolakopoulos et al. 2019). We present the case of a 33-year-old male with a past medical history of Hodgkin lymphoma, nonischemic cardiomyopathy ejection fraction of 25-30%, severe aortic stenosis, hepatitis C, and active intravenous (IV) drug abuse who was admitted following a motor vehicle accident. Approximately 10 days into his admission, he developed a 39.5 degree Celsius fever, which prompted collection of blood cultures. These cultures were positive (2 out of 2) for S. marcescens for which he was treated with intravenous cefepime. Soon after this diagnosis, patient developed a complete AV block. Given the instability of the patient, he required emergent placement of a temporary pacing wire. Transesophageal echocardiogram was ordered and revealed an aortic root abscess. Given the comorbidities and active IV drug use, conservative management was pursued. Although rare, trends suggest that this pathogen may be on the rise. Further research is needed to better understand how to effectively manage this pathogen.
Observation of Voriconazole in the Treatment of Liver Failure Complicated With Invasive Pulmonary Fungal Infection Induced by Chinese Patent Medicine in Teenagers: 2 Case Reports
Authors: Qian Su, Jinjin Pan, Li Zhang, Lingling Xia, Yufeng Gao, Jiabin Li
Journal: Front Pharmacol (2022)
Keywords: chinese patent medicine, invasive pulmonary fungal infections (ipfi), autoimmune-like phenomena, case report, drug-induced liver failure, voriconazole (vcz)
MeSH terms: Case Reports

Background: Drug-induced liver injury (DILI) caused by Chinese patent medicines is increasing in China. The incidence of invasive fungal infections (IFIs) is increasing due to the suppression of the immune function in greater numbers of patients. Invasive procedures such as deep vein catheterization and the use of glucocorticoids are also predisposing factors to IFIs. The clinical presentation of IFI in teenagers is often atypical, challenging to diagnose, difficult to treat, and associated with a high fatality rate. Case presentation: Herein, we report 2 teenagers with liver failure after receiving oral Chinese patent medicines. Case 1 was a 14-year-old boy who presented with subacute liver failure who had been administered a Chinese patent medicine that included acetaminophen. Administration of glucocorticoids and non-bioartificial liver treatment improved his condition. Subsequently, invasive pulmonary Aspergillus (IPA) was diagnosed and was successfully treated with voriconazole for 85 days. Case 2 was a 17-year-old girl who presented with acute liver failure after taking the Chinese patent medicine QubaiBabuqi tablets for vitiligo. Chest computed tomography (CT) revealed multiple pulmonary nodules with an intermittent low-grade fever, and she was diagnosed with IPA. She was initially treated with caspofungin (23 days) and then voriconazole (406 days) for 429 days. Her liver function returned to normal, and lung lesions were absorbed in 2 patients. At the same time, two to three histopathological examinations of the liver biopsy showed that the drug-induced autoimmune-like phenomena could be improved by glucocorticoid therapy. Conclusion: To the best of our knowledge, this is the first report of the successful treatment of 2 cases of liver failure (Child-Pugh class C) caused by Chinese patent medicines complicated with IPA in teenagers. Drug-induced autoimmune-like phenomena could be improved by glucocorticoid therapy.
Paracentral Acute Middle Maculopathy and Nonischemic Central Retinal Vein Obstruction in a Young Patient with Protein C Deficiency
Authors: Mojtaba Abrishami, Seyedeh Maryam Hosseini, Nasser Shoeibi, Hamid Reza Heidarzadeh
Journal: Case Rep Ophthalmol Med (2022)
MeSH terms: Case Reports

Purpose:
To report a case of protein C deficiency with paracentral acute middle maculopathy (PAMM) and nonischemic central retinal vein obstruction (NI-CRVO). Case Report. A previously healthy twenty-one-year-old male was referred with sudden-onset, painless, unilateral paracentral scotomata in the right eye for a week. His uncorrected visual acuity was 20/20 in both eyes. In fundus examination of the right eye, mild venous tortuosity, retinal hemorrhages, and a gray-white opacity in the papillomacular bundle were observed. In the macular spectral-domain optical coherence tomography images, a hyperreflective band was noticed at the level of the inner nuclear layer, indicating PAMM. Fundus appearance and fluorescein angiography findings indicated NI-CRVO diagnosis made. The systemic and laboratory evaluations disclosed a protein C deficiency.
Conclusion:
In this report, in a healthy young male, combined PAMM and NI-CRVO showed to be the cause of blurred vision in the setting of protein C deficiency.
Case report: Glucose 6-phosphate-isomerase deficiency combine with avascular necrosis of bilateral femoral head
Authors: Zhenqi Song, Kongjian Wang, Djandan Tadum Arthur, Zhongwen Tang, Feng Xiang, Jie Wen, Sheng Xiao
Journal: Front Pediatr (2022)
Keywords: abnormal gait, avascular necrosis, femoral head, glucose phosphate isomerase deficiency, hemolytic disease
MeSH terms: Case Reports

Background:
Glucose 6-phosphate-isomerase deficiency (GPI) is an uncommon autosomal recessive genetic disorder characterized by chronic asphoric hemolytic anemia, jaundice, and hepatospleenomegaly of varying degrees. Avascular necrosis of the femoral head in children may be caused by Legg-calve-perthes disease or hematological diseases. However, to date, there is no literature reporting on femoral head avascular necrosis as a complication of GPI.
Case presentation:
Herein we report a 6-year-old child admitted with no pain and abnormal gait in both lower extremities for 3 years, the patient received a genetic inspection and radiology test. Full-exon detection and Sanger sequencing verification were performed on the children and their parents C. 553T>A homozygous missense mutation (NM_ 001289790, F 185 I) was found in exon 6 of the GPI gene, which was inherited from parents. The radiology test showed avascular necrosis of the bilateral femoral head. The patient received traction and wore a spica splint every night and non-weight bearing hip joint rehabilitation every day for 12 months, after which, the gait of the femoral head of this patient improved significantly, and follow up radiation results showed the area of avascular necrosis of the femoral head had decreased.
Conclusion:
Careful investigation of GPI children with abnormal gait is recommended to avoid misdiagnosis, GPI combined with avascular necrosis of the femoral head should be considered as a differential diagnosis in GPI children with abnormal gait.
Anogenital Verrucous Carcinoma-A case report
Authors: Hannah Trøstrup, Steen H Matzen
Journal: Int J Surg Case Rep (2019)
Keywords: anogenital verrucous carcinoma, case report, squamous cell cancer variant

Introduction:
Verrucous carcinoma is an uncommon variant of low-grade squamous cell malignancy with a low malignant potential but a high risk of recurrence.
Presentation of case:
We report a case of a Human Papilloma Virus negative local verrucous carcinoma in the perianal area of a 45-year old otherwise healthy female. The tumor presented clinically as a persistent genital wart not responding to usual dermatologic local therapy. The patient was referred to the Department of Plastic Surgery and Breast Surgery after primary excision in a private practice setting of a general surgeon. Three months later, further excision revealed local lichen sclerosus inflammatory changes in close proximity to the excision scar.
Discussion:
Due to the low occurrence of verrucous carcinoma in the perianal area, no guidelines are available for the management of this disease. Conflicting reports on the ethiology and the nomenclature and classifications of verrucous carcinomas exist.
Conclusion:
Avoid pitfalls in the diagnosis of a rare variant of squamous cell cancer with a high recurrence ratio: Common genital warts not responding to ordinary local antimitotic Podophyllotoxin treatment require biopsy to exclude verrucous carcinoma. Follow-up is recommended at a 3-6 months interval due to the relative high risk of relapse.
Ciliated foregut cyst of the gallbladder: report of a case and review of literature
Authors: Asiye Şafak Bulut, Kaan Karayalçın
Journal: Patholog Res Int (2010)
MeSH terms: Case Reports

Cystic lesions of the gallbladder are very rare and they are generally lined by single columnar or mucinous epithelium. A ciliated cyst of foregut origin is extremely rare in gallbladder. To our knowledge, only five cases have been reported so far. Here, we present the sixth case found incidentally in ultrasonographic examination in a 41-year-old woman suffering from chronic right upper quadrant pain. Laparoscopic cholecystectomy was performed for the gallstones and a benign appearing cyst in ultrasonography. Macroscopically, a submucosal unilocular cyst was located in the neck of the gallbladder. There was no communication with the lumen. Histologically, the cyst was lined by pseudostratified ciliated epithelium containing goblet cells and had a muscular wall. The postoperative course was uneventful. Patient was discharged on the second day of the operation and was well after 2 months.