OpenMed/multicare-articles huggingface dataset:
Slow progression of exudative age related macular degeneration associated with hypertrophy of the retinal pigment epithelium
Authors: Jeffrey Stern, David Eveleth, Jennifer Masula, Sally Temple
Journal: F1000Res (2014)
Keywords: macular degeneration, amd, choroidal neovascularization, cnv, retinal pigment epithelium, rpe, amd treatment interval, rpe wound healing

Rationale:
Choroidal neovascular (CNV) lesions in younger patients are often accompanied by the appearance of a surrounding ring of pigment that is associated with disease regression or slowed disease progression. In older patients with age-related macular degeneration (AMD), however, hypertrophy of the retinal pigment epithelium (RPE) is known to occur but has not previously been reported to be associated with CNV regression. This report describes the clinical course of a case series of AMD patients with pigment hypertrophy adjacent to CNV associated with stabilization of the CNV lesion.
Methods:
A retrospective analysis of exudative AMD patients seen by a single retina specialist over a 7-year period.
Results:
Retrospective analysis of 955 exudative AMD patients revealed pigment hypertrophy associated with CNV in 33 patients. A ring of pigment surrounded CNV in 6 of these. Three representative patients are presented to illustrate the decrease in macular edema, reduced fluorescein leakage and slowed CNV progression that was associated with a pigment ring around CNV in AMD. Pigment hypertrophy was associated with blocked fluorescein leakage and exudative AMD patients with a complete pigment ring maintained stable visual acuity, macular edema, fluorescein leakage and CNV lesion size without treatment for intervals of up to 21 months. Conclusion:
We report slowed disease progression in AMD patients who develop pigment around CNV. The slow rate of disease progression in the AMD patient subgroup having a pigment ring is a factor to consider in determining the treatment interval for exudative AMD patients.
Extended distal pancreatectomy with en bloc resection of the celiac axis for locally advanced pancreatic cancer: a case report and review of the literature
Authors: Patrick H Alizai, Andreas H Mahnken, Christian D Klink, Ulf P Neumann, Karsten Junge
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Due to a lack of early symptoms, pancreatic cancers of the body and tail are discovered mostly at advanced stages. These locally advanced cancers often involve the celiac axis or the common hepatic artery and are therefore declared unresectable. The extended distal pancreatectomy with en bloc resection of the celiac artery may offer a chance of complete resection. We present the case of a 48-year-old female with pancreatic body cancer invading the celiac axis. The patient underwent laparoscopy to exclude hepatic and peritoneal metastasis. Subsequently, a selective embolization of the common hepatic artery was performed to enlarge arterial flow to the hepatobiliary system and the stomach via the pancreatoduodenal arcades from the superior mesenteric artery. Fifteen days after embolization, the extended distal pancreatectomy with splenectomy and en bloc resection of the celiac axis was carried out. The postoperative course was uneventful, and complete tumor resection was achieved. This case report and a review of the literature show the feasibility and safety of the extended distal pancreatectomy with en bloc resection of the celiac axis. A preoperative embolization of the celiac axis may avoid ischemia-related complications of the stomach or the liver.
A Case of Clitoral Hypertrophy of Unknown Origin
Authors: Tetsuya Okaneya, Kiyoshi Onishi, Michio Saze, Kei Iwakura, Hiroko Sakuma
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Clitoral hypertrophy is caused by disorders of sex development and it is observed from birth in most cases. We encountered a patient in whom normal morphology at birth may have acquired deformity and hypertrophy. The patient was a 10-year-old girl with a chief complaint of pudendal deformity. The clitoral hood was enlarged and the clitoris size was 8 x 5 mm on the first examination. Various tests were performed. Sex chromosome or hormonal abnormalities and tumorous lesions were not detected, and the ovaries, uterus, and vagina were normal, indicating that disorders of mullerian development were negative. In surgery, reconstruction of the vulva was performed following the Marberger method. The present case may have been a very rare case of acquired hypertrophy of unknown origin.
Severe gastrooesophageal reflux disease associated with foetal alcohol syndrome
Authors: N K Sujay, Matthew Jones, Emma Whittle, Helen Murphy, Marcus K H Auth
Journal: Case Rep Pediatr (2012)

Prenatal alcohol exposure may have adverse effects on the developing foetus resulting in significant growth restriction, characteristic craniofacial features, and central nervous system dysfunction. The toxic effects of alcohol on the developing brain are well recognised. However, little is known about the effects of alcohol on the developing gastrointestinal tract or their mechanism. There are few case reports showing an association between foetal alcohol syndrome and gastrointestinal neuropathy. We report a rare association between foetal alcohol syndrome and severe gastrooesophageal reflux disease in an infant who ultimately required fundoplication to optimise her growth and nutrition. The child had failed to respond to maximal medical treatment (domperidone and omeprazole), high calorie feeds, PEG feeding, or total parenteral nutrition. The effect of alcohol on the developing foetus is not limited to the central nervous system but also can have varied and devastating effects on the gastrointestinal tract.
Perforated duodenal ulcer in pregnancy-a rare cause of acute abdominal pain in pregnancy: a case report and literature review
Authors: Papa Essilfie, M Hussain, I Bolaji
Journal: Case Rep Obstet Gynecol (2011)
MeSH terms: Case Reports

Medical and surgical disorders in pregnancy can be can be quite challenging for the obstetrician gynaecologist even in resource rich countries. Reaching an accurate diagnosis and admininstering appropriate management can be difficult in the presence of an on-going pregnancy. The importance of involving specialist from other disciplines (multidisciplinary care) cannot be overemphasized. We present an interesting case of perforated duodenal ulcer in a pregnant patient, review the literature ,discuss the differential diagnosis and evaluate the management principles for this rare condition.
Nonspecific Symptoms in a Rare Case of Urethral Adenocarcinoma in a 58-Year-Old Female
Authors: Line Winther Gustafson, Anne Gamst Christiansen, Huda Majeed, Peter Humaidan
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Cancer of the urethra is very rare with an age-adjusted incidence of only 0.6 per million women in Europe. The etiology is multifactorial and the incidence increases with age, with the highest rates in patients 75 years or older. We herein describe a 58-year-old woman referred to our unit due to pollakisuria and repeated lower urinary tract infections. The gynecological examination revealed a suspect area in the anterior wall of vagina. Subsequently, ultrasound examination, MRI, and PET-CT scan followed by vaginal biopsies revealed a urethral adenocarcinoma.
Time-Restricted Ketogenic Diet in Huntington's Disease: A Case Study
Authors: Matthew C L Phillips, Eileen J McManus, Martijn Brinkhuis, Beatriz Romero-Ferrando
Journal: Front Behav Neurosci (2022)
Keywords: huntington's disease, energy metabolism, fasting, ketogenic diet, metabolic strategy, mitochondria dysfunction, neurodegeneration
MeSH terms: Case Reports

Huntington's disease (HD) is a progressive, fatal neurodegenerative disorder with limited treatment options. Substantial evidence implicates mitochondria dysfunction in brain and skeletal muscle in the pathogenesis of HD. Metabolic strategies, such as fasting and ketogenic diets, theoretically enhance brain and muscle metabolism and mitochondria function, which may improve the clinical symptoms of HD. We report the case of a 41-year-old man with progressive, deteriorating HD who pursued a time-restricted ketogenic diet (TRKD) for 48 weeks. Improvements were measured in his motor symptoms (52% improvement from baseline), activities of daily living (28% improvement), composite Unified HD Rating Scale (cUHDRS) score (20% improvement), HD-related behavior problems (apathy, disorientation, anger, and irritability improved by 50-100%), and mood-related quality of life (25% improvement). Cognition did not improve. Weight remained stable and there were no significant adverse effects. This case study is unique in that a patient with progressive, deteriorating HD was managed with a TRKD, with subsequent improvements in his motor symptoms, activities of daily living, cUHDRS score, most major HD-related behavior problems, and quality of life. Our patient remains dedicated to his TRKD, which continues to provide benefit for him and his family.
Intermediate between Idiopathic Hypereosinophilia and Chronic Eosinophilic Leukemia: A Report of Two Hypereosinophilic Cases with Possible Novel Molecular Mutations
Authors: Jui Choudhuri, Mohammad Eskandari, Yang Shi, Yanhua Wang
Journal: Case Rep Hematol (2021)
MeSH terms: Case Reports

To distinguish a reactive eosinophilia from its malignant counterpart is challenging. Establishing clonality of the eosinophils is crucial and considered the determining factor for establishing a diagnosis. Cases of hypereosinophilia without clear reactive etiologies, no evidence of end-organ damage, normal cytogenetics, and no molecular mutations are termed as "Idiopathic Hypereosinophilia (IHE)." For cases which lie between the spectrum of chronic eosinophilic leukemia (CEL) and IHE, identification of underlying molecular abnormalities might be helpful in better understanding the disease process and prognosis. Here, we report two cases of hypereosinophilia in which five possible novel molecular mutations were identified by targeted next-generation sequencing (NGS) analysis. They were FBXW7, KM2A, TCF3, ERBB4, and MET. With multiple genetic mutations, these cases could be classified as chronic eosinophilic leukemia. Both these young patients responded well to steroid therapy. While targeted NGS is a useful tool in identifying new molecular mutation associated with hypereosinophilia, our cases raise the question of further investigating this entity and if there is a possibility of an intermediate category lying between the spectrum of CEL and IHE. Defining hypereosinophilia with clonal molecular abnormality as a malignant process may need to be revisited. Even though attempts are being made to identify mutations in IHE, it might be more significant clinically to differentiate them based on response to steroid therapy and prognosis.
An Interesting Case of Nonlupus Full-House Nephropathy
Authors: Satyanand Sathi, Alok Sharma, Anil Kumar Garg, Virendra Singh Saini, Manoj Kumar Singh, Devinder Vohra, Arvind Trivedi
Journal: Case Rep Nephrol (2021)
MeSH terms: Case Reports

Full-house immunofluorescence and endothelial tubuloreticular inclusions are known as characteristic features of lupus nephritis. However, both features are not pathognomonic for lupus nephritis. A kidney biopsy specimen showing full-house immunofluorescence pattern in the absence of autoantibodies and classical clinical features of Systemic Lupus Erythematosus (SLE) is now considered as nonlupus full-house nephropathy (FHN). Nonlupus FHN may be idiopathic or due to other disease processes known as secondary nonlupus FHN. Here, we report the case of a 36-year-old female who presented with nephrotic proteinuria with bland urine sediment. Additional analyses revealed normal serum antinuclear antibody (ANA), normal anti-double-stranded DNA (anti-dsDNA) antibodies, and normal serum C3 and C4 levels. A renal biopsy showed a normal-appearing glomerulus without any proliferation or capillary wall thickening and widespread glomerular immune deposits (full-house effect; IgA, IgG, IgM, C3, and C1Q) on direct immunofluorescence. Renal electron microscopy showed diffuse effacement of visceral epithelial cell foot processes and mesangial electron dense deposits. The patient was diagnosed as nonlupus FHN. There is a controversial role of steroids and other immunosuppressive drugs in the treatment of nonlupus FHN patients, but our case patient responded favourably to steroid therapy. The term nonlupus FHN can be used as an umbrella term for patients who do not satisfy the clinical and serological criteria of SLE.
Mucoepidermoid Carcinoma Associated with Osteosarcoma in a True Malignant Mixed Tumor of the Submandibular Region
Authors: Dario Marcotullio, Marco de Vincentiis, Giannicola Iannella, Bruna Cerbelli, Giuseppe Magliulo
Journal: Case Rep Otolaryngol (2015)

Introduction. True malignant mixed tumor, also known as carcinosarcoma, is a rare tumor of the salivary gland composed of both malignant epithelial and malignant mesenchymal elements. Frequently carcinosarcoma arises in the background of a preexisting pleomorphic adenoma; however, if no evidence of benign mixed tumor is present, the lesion is known as carcinosarcoma "de novo." We reported the first case of true malignant mixed tumor of the submandibular gland composed of high grade mucoepidermoid carcinoma associated with osteosarcoma. Case Presentation. A 69-year-old Caucasian male came to our department complaining of the appearance of an asymptomatic left submandibular neoformation progressively increasing in size over 3 months. We opted for surgical treatment. Histological examination confirmed the diagnosis of carcinosarcoma with the coexistence of high grade mucoepidermoid carcinoma and osteosarcoma. Conclusion. To the best of our knowledge, in the true malignant mixed tumor of the submandibular gland, mucoepidermoid carcinoma associated with osteosarcoma has never been previously reported.
Jervell and Lange-Nielsen Syndrome due to a Novel Compound Heterozygous KCNQ1 Mutation in a Chinese Family
Authors: Yue Qiu, Sen Chen, Xia Wu, Wen-Juan Zhang, Wen Xie, Yuan Jin, Le Xie, Kai Xu, Xue Bai, Hui-Min Zhang, Xiao-Zhou Liu, Xiao-Hui Wang, Yu Sun, Wei-Jia Kong
Journal: Neural Plast (2020)
MeSH terms: Jervell-Lange Nielsen Syndrome / genetics, KCNQ1 Potassium Channel / genetics, Mutation, Case Reports, Research Support, Non-U.S. Gov't, Asian People, Child, Preschool, China, DNA Mutational Analysis, Deafness / genetics, Heterozygote, High-Throughput Nucleotide Sequencing, Humans, Jervell-Lange Nielsen Syndrome / physiopathology, Male, Pedigree, KCNQ1 Potassium Channel, KCNQ1 protein, human

Jervell and Lange-Nielsen syndrome (JLNS) is a rare but severe autosomal recessive disease characterized by profound congenital deafness and a prolonged QTc interval (greater than 500 milliseconds) in the ECG waveforms. The prevalence of JLNS is about 1/1000000 to 1/200000 around the world. However, exceed 25% of JLNS patients suffered sudden cardiac death with kinds of triggers containing anesthesia. Approximately 90% of JLNS cases are caused by KCNQ1 gene mutations. Here, using next-generation sequencing (NGS), we identified a compound heterozygosity for two mutations c.1741A>T (novel) and c.477+5G>A (known) in KCNQ1 gene as the possible pathogenic cause of JLNS, which suggested a high risk of cardiac events in a deaf child. The hearing of this patient improved significantly with the help of cochlear implantation (CI). But life-threatening arrhythmias occurred with a trigger of anesthesia after the end of the CI surgery. Our findings extend the KCNQ1 gene mutation spectrum and contribute to the management of deaf children diagnosed with JLNS for otolaryngologists (especially cochlear implant teams).
Treatment of nonhealing diabetic lower extremity ulcers with skin graft and autologous platelet gel: a case series
Authors: Yuan-Sheng Tzeng, Shou-Cheng Deng, Chih-Hsing Wang, Jui-Che Tsai, Tim-Mo Chen, Thierry Burnouf
Journal: Biomed Res Int (2013)
MeSH terms: Diabetes Complications / drug therapy, Diabetic Foot / drug therapy, Foot Ulcer / drug therapy, Skin Transplantation, Thrombin / administration & dosage, Case Reports, Research Support, Non-U.S. Gov't, Adult, Aged, Aged, 80 and over, Diabetes Complications / pathology, Diabetic Foot / pathology, Female, Foot Ulcer / pathology, Humans, Lower Extremity / pathology, Male, Middle Aged, Platelet-Rich Plasma, Wound Healing, Thrombin

Lower extremity ulcers in diabetic patients are difficult to treat. Recently, the use of human blood platelet-derived components in this indication has been raising interest. In this study, we have evaluated the safety and efficacy of the combination of autologous platelet gel (PG) and skin graft for treating large size recalcitrant ulcers. Eight consecutive diabetic patients aged 25 to 82 with nine nonhealing lower extremity ulcers (median size of 50 cm(2); range 15-150 cm(2)) were treated. Skin ulcer was debrided, and the wound was sprayed after 7 to 10 days with autologous platelet-rich plasma and thrombin. Thin split-thickness skin graft with multiple slits was then applied on the wound bed and fixed with staples or cat-gut sutures. There were no adverse reactions observed during the study. Eight out of 9 skin grafts took well. The interval between skin graft and complete wound healing ranged from 2 to 3 weeks in the 8 successful cases. No ulcer recurrence was noted in those patients during the follow-up period of 2 to 19 months. In this study, the combination of autologous platelet gel and skin grafting has proven beneficial to heal large-size recalcitrant ulcers.
Children with COVID-19 Who Manifest Febrile Seizure
Authors: Lilia Dewiyanti, Neni Sumarni, Joseph Deni Lie, Zuhriah Hidajati, Harancang Pandih Kahayana, Adriana Lukmasari, Cipta Pramana
Journal: Case Rep Med (2021)
MeSH terms: Case Reports

The COVID-19 pandemic is a challenge for all medical personnel in the world. Various studies have been conducted to gain more knowledge about SARS-CoV-2, but studies in the pediatric population are still very limited. We report a case of a boy aged two years and seven months who came to the hospital with an atypical generalized seizure for less than 5 minutes and immediately regained consciousness after the seizure. Other symptoms included fever, productive cough, rhinorrhea, and shortness of breath. The X-ray showed a well-defined homogeneous consolidation in the upper right lobe and a small spot in both lungs which consistently showed top right lobar pneumonia and bronchopneumonia. From the SARS-CoV-2 nucleic acid test, positive results were obtained on the third day of hospitalization. The patient received antiseizure therapy, antibiotics, and other supportive therapies by Indonesian Pediatrician Association (IDAI) guidelines. During treatment, the patient responded well to the treatment given, with no other seizure episodes. A negative result on the SARS-CoV-2 nucleic acid test was obtained after twelve days of hospitalization as well as improvements of the lungs as seen from the X-ray.
Haloperidol-Induced Dystonia due to Sedation for Upper Gastrointestinal Endoscopy: A Pediatric Case Report
Authors: Kazufumi Yaginuma, Masahiro Watanabe, Kyohei Miyazaki, Atsushi Ono, Hiromichi Murai, Maki Nodera, Yuichi Suzuki, Kazuhide Suyama, Yukihiko Kawasaki, Mitsuaki Hosoya
Journal: Case Rep Emerg Med (2019)
MeSH terms: Case Reports

Dystonia is a movement disorder characterized by sustained muscle tone. Antipsychotic agents sometimes cause acute dystonia that can rapidly worsen within a few hours or days. Because healthy children rarely receive antipsychotic agents, it is unusual to see antipsychotic agent-induced dystonia in pediatric emergency departments. We report a rare case of a 12-year-old healthy boy who presented with acute dystonia after administration of haloperidol for sedation. He was suspected of laryngeal dystonia because stridor and desaturation were present. The symptoms disappeared with the administration of hydroxyzine. Rapid diagnosis was important in this case because laryngeal dystonia is a potential life-threatening complication due to upper airway obstruction. Considering the risk of side effects, doctors who are not accustomed to administering pediatric anesthesia should consult a pediatrician and/or an anesthesiologist prior to administration of anesthetics to pediatric patients.
Acute Spontaneous Coronary Artery Thrombosis as Initial Presentation of HIV Infection in a Young Man
Authors: James Kayima, Wilson Nyakoojo, Damalie Nakanjako, Marco A Costa, Christopher T Longenecker, Daniel I Simon
Journal: Case Rep Cardiol (2015)

Introduction. The presentation of acute coronary syndrome (ACS) in young HIV patients may be atypical with different pathophysiological and clinical features. Acute coronary thrombosis, as a presentation of acute coronary syndrome in young patients with HIV, raises diagnostic and treatment challenges. Case Presentation. We describe a case of a 33-year-old African man, without traditional atherosclerotic risk factors, who presented with chest pain of acute onset. Emergent coronary angiography revealed extensive thrombus in the left anterior descending coronary artery with no evidence of atherosclerosis in this or other coronary vessels. Plaque and/or thrombus prolapse through the stent was noted following percutaneous coronary intervention (PCI). Resolution of chest pain and improvement in ST-segment elevation was noted after the procedure. A diagnosis of HIV infection was made during the workup for HIV infection. Conclusion. In young patients without traditional risk factors, HIV infection is a possible etiological factor for spontaneous coronary artery thrombosis. Percutaneous coronary intervention in patients with this presentation may be compounded with atherothrombotic complications. The likely pathophysiological pathway is superficial endothelial cell denudation as a result of chronic inflammation and immune activation.
Critical Care Management for Novel 2019 SARS-CoV-2 and HCoV-NL63 Coinfection in a Young Immunocompromised Patient: A Chicago Experience
Authors: Alejandro Sanchez-Nadales, Miguel Treminio-Quezada, Hasan Abad, Jessica Navarro-Motta, Pamela Contreras-Chavez, Anil Kachru, Chae Chu
Journal: Case Rep Crit Care (2020)
MeSH terms: Case Reports

Background:
SARS-CoV-2 is a newly emerged virus that has spread rapidly, exhibiting tremendous morbidity and mortality. Some potential pharmaceutical targets have been identified but are still lacking proper validation. Case Presentation. We describe the case of a young, immunosuppressed and critically ill patient with previous Influenza B infection, requiring extracorporeal membrane oxygenation, which was then followed, in the succeeding months, by SARS-CoV-2 infection complicated by severe adult respiratory distress syndrome. Her clinical course exhibited complications, including pulmonary embolism, acute kidney injury, pneumothorax, pneumomediastinum, multiple cardiac arrests, and eventually death.
Conclusion:
Coinfection with other respiratory pathogens and opportunistic infections are possible.
Cerebellar ganglioglioma
Authors: Badr Fedoul, Zouhayr Souirti
Journal: Pan Afr Med J (2012)
Keywords: ganglioglioma, morocco, cerebellar vermis, histology, tumour
MeSH terms: Cerebellar Neoplasms / diagnosis, Cerebellar Neoplasms / surgery, Ganglioglioma / diagnosis, Ganglioglioma / surgery, Case Reports, Review, Adult, Humans, Male

The cerebellar location of ganglioglioma (GG) is exceptional. We report one case of a 27-year-old man who underwent an intracranial hypertension syndrome and a static cerebellar syndrome. Brain magnetic resonance images revealed a cyst image in the vermis. Histological study after surgical removal, revealed a ganglioglioma tumor. Through this case and literature review, the authors discuss some epidemiological, histological, clinical, radiological and management features of this very rare tumor.