OpenMed/multicare-articles huggingface dataset:
Rare disease emerging as a global public health priority
Authors: Claudia Ching Yan Chung, Hong Kong Genome Project, Annie Tsz Wai Chu, Brian Hon Yin Chung
Journal: Front Public Health (2022)
Keywords: hong kong genome project, diversity, genomic equity, inclusiveness, public health priority, rare disease
MeSH terms: COVID-19 / epidemiology, Rare Diseases / diagnosis, Rare Diseases / epidemiology, Rare Diseases / genetics, Review, Research Support, Non-U.S. Gov't, Health Priorities, Humans, Public Health, Public Policy

The genomics revolution over the past three decades has led to great strides in rare disease (RD) research, which presents a major shift in global policy landscape. While RDs are individually rare, there are common challenges and unmet medical and social needs experienced by the RD population globally. The various disabilities arising from RDs as well as diagnostic and treatment uncertainty were demonstrated to have detrimental influence on the health, psychosocial, and economic aspects of RD families. Despite the collective large number of patients and families affected by RDs internationally, the general lack of public awareness and expertise constraints have neglected and marginalized the RD population in health systems and in health- and social-care policies. The current Coronavirus Disease of 2019 (COVID-19) pandemic has exposed the long-standing and fundamental challenges of the RD population, and has reminded us of the critical need of addressing the systemic inequalities and widespread disparities across populations and jurisdictions. Owing to the commonality in goals between RD movements and universal health coverage targets, the United Nations (UN) has highlighted the importance of recognizing RDs in policies, and has recently adopted the UN Resolution to promote greater integration of RDs in the UN agenda, advancing UN's commitment in achieving the 2030 Sustainable Development Goals of "leav[ing] no one behind." Governments have also started to launch Genome Projects in their respective jurisdictions, aiming to integrate genomic medicine into mainstream healthcare. In this paper, we review the challenges experienced by the RD population, the establishment and adoption of RD policies, and the state of evidence in addressing these challenges from a global perspective. The Hong Kong Genome Project was illustrated as a case study to highlight the role of Genome Projects in enhancing clinical application of genomic medicine for personalized medicine and in improving equity of access and return in global genomics. Through reviewing what has been achieved to date, this paper will provide future directions as RD emerges as a global public health priority, in hopes of moving a step toward a more equitable and inclusive community for the RD population in times of pandemics and beyond.
Hepatic angiosarcoma presenting as an acute intraabdominal hemorrhage treated with transarterial chemoembolization
Authors: Glenn William Stambo, Michael J Guiney
Journal: Sarcoma (2007)
MeSH terms: Case Reports

Primary malignant neoplasms of the liver are some of the most uncommon malignancies in many parts of the world. They include hepatocellular carcinoma and stromal tumors such as hepatic angiosarcoma. It is a lethal tumor with life expectancy of less than six months. Once discovered, it is often too late for surgical intervention. Like other vascular tumors of the liver and spleen, intraperitoneal hemorrhage is a well-documented finding of angiosarcoma which can be lethal if not diagnosed and treated immediately. As in our case, intraperitoneal hemorrhage from primary tumor rupture was the only clinical presentation of this neoplasm. Approximately 15% of patients present with acute hemoperitoneum from either tumor rupture or peritoneal metastasis. Although several therapeutic options are available, we describe apalliative therapy for hepatic angiosarcoma utilizing transcatheter arterial chemoembolization (TACE) techniques incorporating the newer embolization agent Embospheres to locally target and treat this aggressive tumor.
Treatment of an Unusual Occurrence of a Complex Left Subclavian Artery/Left Internal Mammary Artery Bifurcation Stenosis in the Setting of Coronary Subclavian Steal Syndrome and Ischemic Left Ventricular Systolic Dysfunction
Authors: Michael J Martinelli, Michael B Martinelli
Journal: Case Rep Cardiol (2018)
MeSH terms: Case Reports

This case will illustrate the clinical and unique technical challenges, not previously reported, in a patient with a history of progressive left ventricular (LV) systolic dysfunction, congestive heart failure (CHF), myocardial infarction (MI), and a complex bifurcation lesion of the left subclavian artery (SA) involving the left internal mammary artery (LIMA) in the setting of coronary subclavian steal syndrome (CSSS). The approach to this lesion is complicated by significant LIMA involvement requiring intervention directed toward both the SA and the LIMA in the presence of severe LV systolic dysfunction. This clinical scenario necessitates a careful technique, utilizing bifurcation methods similar to those used in coronary intervention.
Prostate Cancer Presenting as Huge Mediastinal and Retroperitoneal Masses: Case Report and Review of the Literature
Authors: Safa Alshaikh, Zainab Harb
Journal: Case Rep Pathol (2017)
MeSH terms: Case Reports

Mediastinum and retroperitoneum are exceedingly rare sites for metastatic prostate cancer to occur. Here, we present the case of a 67-year-old male patient with incidental findings of mediastinal and retroperitoneal masses which were found to be due to metastatic prostate adenocarcinoma based on histopathology and immunohistochemical studies and later on supported by the significantly elevated Prostate Specific Antigen (PSA) levels. Prostate cancer should always be considered in the differential diagnosis of elderly men presenting with metastatic epithelial tumors even in unusual sites.
A Rare Cause of Massive Upper Gastrointestinal Hemorrhage in Immunocompromised Host
Authors: Obai Abdullah, Nicole A Pele, Yumei Fu, Imran Ashraf, Murtaza Arif, Matthew L Bechtold, Ajitinder Grewal, Hazem T Hammad
Journal: Gastroenterology Res (2012)
Keywords: gastrointestinal bleed, invasive mucurmycosis
MeSH terms: Case Reports

Mucormycosis is an invasive and aggressive opportunistic fungal infection that usually presents with rhinocerebral or pulmonary involvement and rarely involves the gastrointestinal tract. The disease is acute with mortality rate up to 100%. A 68-year-old male was undergoing treatment at a local hospital for COPD exacerbation with IV steroids and antibiotics. Two weeks into his treatment he suddenly developed massive upper GI bleeding and hemodynamic instability that necessitated transfer to our tertiary care hospital for further treatment and management. An urgent upper endoscopy revealed multiple large and deep gastric and duodenal bulb ulcers with stigmata of recent bleeding. The ulcers were treated endoscopically. Biopsies showed fibrinopurulent debris with fungal organisms. Stains highlighted slightly irregular hyphae with rare septa and yeast suspicious for Candida. The patient was subsequently placed on fluconazole. Unfortunately, the patient's general condition continued to worsen and he developed multiorgan failure and died. Autopsy revealed disseminated systemic mucormycosis. Most of the cases of gastrointestinal mucormycosis were reported from the tropics and few were reported in the United States. The disease occurs most frequently in immunocompromised individuals. The rare incidence of GI involvement, acute nature, severity and the problematic identification of the organisms on biopsies make antemortem diagnosis challenging. Treatment includes parenteral antifungals and debridement of the infected tissues. Gastroenterologists should be aware of this rare cause of gastrointestinal bleeding and understand the importance of communication with the reviewing pathologist so that appropriate, and often lifesaving, therapies can be administered in a timely manner.
A quarter pound of acetaminophen with propylene glycol on the side: A case report
Authors: Daniel Murphy, Abrar Khan, Christine Borscheid, Samy Riad
Journal: Clin Nephrol Case Stud (2020)
Keywords: acetaminophen, hemodialysis, overdose
MeSH terms: Case Reports

Particularly large acetaminophen overdoses, termed massive, create a therapeutic challenge given the standardized, N-acetylcysteine-based treatment. One consideration in addition to N-acetylcysteine is the initiation of hemodialysis due to the dialyzable nature of acetaminophen, though encumbered by the concurrent removal of the antidote, N-acetylcysteine. Such cases of large acetaminophen overdose, along with possible concomitant ingestions of other drugs or inactive ingredients, can be complicated by challenging-to-interpret clinical signs and laboratory findings. We describe a case of a 46-year-old man for whom we were consulted regarding consideration of dialysis treatment 7 hours after ingestion of 125 g of acetaminophen. The patient developed multiple early signs and laboratory findings consistent with a significant acetaminophen overdose. He also developed a rarely described, likely acetaminophen-interference-induced laboratory abnormality. Finally, he possibly had toxicity from an "inactive" ingredient. He was treated with a single session of prolonged hemodialysis (9.5 hours) and increased dosing of N-acetylcysteine with a positive outcome. Herein, we discuss the decision making and interpretation of clinical data pertaining to dialysis treatment and other therapies after a massive acetaminophen overdose.
Press discourses on ecological crises in the UK, Israel, and Hungary
Authors: Nira Yuval-Davis, Isabel Meier, Rolly Rosen, Viktor Varjú
Journal: Front Sociol (2023)
Keywords: climate justice, eco-relationalities, ecological crisis, politics of belonging, press discourses, spatialities, temporalities

This article explores the relationships between political projects of belonging and approaches to environmental and climate ecological crises via comparing centre-right and centre-left newspapers in the UK, Israel and Hungary. Our theoretical framework draws on Nira Yuval-Davis's work on the politics of belonging as a way of understanding and framing the different political projects that accompany reporting on ecological issues. Focusing on selected national and international case studies on these issues at the centre of public debate during the last two decades, the paper explores and compares these relationships by examining the eco-relational, spatial, temporal and normative framing dimensions of the political projects of belonging as expressed in these articles. The findings of the analysis show that, despite different cultural and historical contexts, the most significant dividing line is not among countries but between the different political projects of belonging of the newspapers. This can be seen even when dealing with country-specific, rather than international, case studies. Overall, centre-right newspapers tend to focus on narrow nationalist interests concerning the climate crisis and do not produce discourses of urgency to resolve the crisis except when reporting on major international political agendas. They are also more inclined to focus on the economic aspects of such efforts and how they would affect the "people". The centre-left press, on the other hand, tends to prioritise ecological issues much more; it has wider global and planetary interdependent constructions of belonging and engages in the production of discourses of urgency in an attempt to solve the crisis and avoid future catastrophes. However, even in the centre-left press, especially in the UK, a tendency to remain within a western-centric perspective was observed.
Simultaneous periprosthetic acetabular fracture and contralateral B-type compression injury of the pelvic ring: a case report of a rare injury combination
Authors: Sven Märdian, Klaus-Dieter Schaser, Florian Wichlas, Philipp Schwabe
Journal: Case Rep Orthop (2013)

The periprosthetic fracture of the acetabulum is a rare injury, and its management is only sporadically reported in the literature. A few case reports are available which mainly focus on periprosthetic acetabular fractures in the elderly population. In our case, a 32-year-old patient suffered from a periprosthetic acetabular fracture in combination with a pelvic ring injury following a high velocity accident. The fracture morphology allowed a salvage of the prosthesis with an open reduction and internal fixation with a good radiographic and functional outcome one year after trauma.
Isoflurane Induced Malignant Hyperthermia in a Patient with Glucose 6-Phosphate Dehydrogenase Deficiency and Growth Hormone Abuse
Authors: Hojatolah Ravaei, Mohammad Javad Yavari Barhaghtalab, Vahid Salehi, Hossein Hejr
Journal: Case Rep Anesthesiol (2020)
MeSH terms: Case Reports

Malignant hyperthermia is a pharmacogenetic disorder in the regulation of calcium in skeletal muscles which is related to an uninhibited muscle hypermetabolic reaction to potent inhalation agents, the depolarizing muscle relaxant succinylcholine, and to stressors such as vigorous exercise and heat. MH is diagnosed by the clinical presentation of the disease and laboratory testing. There are a few previous studies working on if there is an association between the occurrence of malignant hyperthermia and the existence of glucose 6-phosphate dehydrogenase (G6PD) deficiency, and there was no report on growth hormone doping in the literature. So, our main goal was to show this rare case of malignant hyperthermia seen in a G6PD patient with growth hormone abuse who underwent surgery and to find if there is an association between G6PD deficiency, growth hormone abuse, and malignant hyperthermia. Our patient was a 17-year-old boy with right lower quadrant abdominal pain and tenderness who underwent appendectomy. At the end of the operation, the patient developed with an increased heart rate (sinus tachycardia), increased body temperature and end-tidal carbon dioxide (ETCO2) level, masseter muscle rigidity, and then, generalized body rigidity, so the malignant hyperthermia susceptibility was considered. The patient was managed by cooling down the patient and the administration of dantrolene. We could hypothesize that malignant hyperthermia might be associated with G6PD deficiency as a triggering factor, but has no association with recombinant human growth hormone (rhGH) abuse. Another main lesson which this study tells us is to make a careful and proper history taking before going on an operation for preoperative evaluation and identification of patients with any form of suspicious drug abuse in order not to receive volatile inhalational agents and, also, performing some preventive measures including avoidance of heat extremes and restricting athletic activity in a patient with a history of malignant hyperthermia, and if the malignant hyperthermia susceptibility is suspected, urgent management should be carried out. As the association between G6PD deficiency, human growth hormone abuse, and malignant hyperthermia has remained unclear up-to-date, further potent studies are seriously needed in the future.
Primary Cardiac Epithelioid Angiosarcoma in a Latin American Patient: Case Report and Literature Review
Authors: Dan Morgenstern-Kaplan, Carlos Manuel Aboitiz-Rivera, Ruben Blachman-Braun, María Eugenia Vázquez-Manríquez, Benito Sarabia-Ortega, Mario Enrique Baltazares-Lipp
Journal: Case Rep Oncol Med (2019)
MeSH terms: Case Reports

Cardiac angiosarcoma is a rare and clinically challenging pathology. It is a high-grade primary malignant tumor of the heart tissue that has many variants, of which the epithelioid variant is rarely present in the heart or the great vessels. As with many other cardiac tumors, it is mainly a diagnosis of exclusion and the initial diagnostic test is an echocardiogram followed by a biopsy with immunohistochemistry analysis to ascertain the type of tumor. The differential diagnosis of cardiac tumors is challenging due to the overlapping clinical manifestations with different cardiac tumors and systemic diseases. Cardiac angiosarcomas are often aggressive with a poor prognosis even with treatment. Herein, we present a case of the epithelioid variant of a cardiac angiosarcoma in addition to a thorough review of the recent literature on the clinical manifestation, diagnosis, and treatment of this type of tumors.
Relapse of Human Chorionic Gonadotropin-Induced Hyperthyroidism and Severe Hyperemesis Gravidarum Secondary to Twin-Twin Transfusion Syndrome, With Rapid Recovery Following Fetoscopic Laser Coagulation: Case Report
Authors: Faiza Lamine, Chiara Camponovo, David Baud, Dominique Werner, Laura Marino, Gerasimos P Sykiotis
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: fetoscopic laser coagulation of placental anastomoses, human chorionic gonadotropin, hyperemesis gravidarum, hyperthyroidism, twin-twin transfusion syndrome
MeSH terms: Chorionic Gonadotropin / adverse effects, Fetofetal Transfusion / complications, Hyperemesis Gravidarum / therapy, Hyperthyroidism / therapy, Laser Coagulation / methods, Case Reports, Research Support, Non-U.S. Gov't, Adult, Female, Fetoscopy / methods, Humans, Hyperemesis Gravidarum / etiology, Hyperemesis Gravidarum / pathology, Hyperthyroidism / etiology, Hyperthyroidism / pathology, Pregnancy, Pregnancy, Twin, Prognosis, Chorionic Gonadotropin

Background:
Limited data have shown that, compared to uncomplicated twin pregnancies, pregnancies complicated by twin-twin transfusion syndrome (TTTS), a life-threatening condition, are associated with higher maternal serum levels of both human chorionic gonadotropin (hCG) and thyroid hormones. With the continuing expansion of assisted reproductive technologies, the rate of twin pregnancies, including those complicated by TTTS and associated hyperemesis gravidarum, is expected to increase further. Therefore, detailed descriptions of the maternal and fetal clinical outcomes of maternal thyrotoxicosis linked to TTTS can be useful for timely diagnosis and management. However, such descriptions are currently lacking in the literature.
Case presentation:
We report the case of a 30-year-old woman carrying a monochorionic twin pregnancy complicated by TTTS that induced a relapse of severe hyperemesis gravidarum with overt non-autoimmune hyperthyroidism at 17 weeks of gestation. Following fetoscopic laser coagulation (FLC), both hyperemesis and hyperthyroidism improved within 1 week.
Conclusions:
The present experience contributes to the knowledge base on maternal thyrotoxicosis linked to TTTS and can be useful in the diagnosis and treatment of future cases; it also emphasizes the need for a high degree of clinical suspicion and for close collaboration between endocrinologists and obstetricians. Another key point is that TTTS-associated hyperemesis gravidarum and maternal hyperthyroidism should be considered in the differential diagnosis of refractory or relapsing hyperemesis gravidarum in women with monochorionic twin pregnancy, because this condition may require more stringent supportive treatment before and during the FLC procedure when the mother is overtly hyperthyroid.
Ciprofloxacin treatment failure in typhoid fever case, Pakistan
Authors: Tariq Butt, Rifat Nadeem Ahmad, Abid Mahmood, Sabeen Zaidi
Journal: Emerg Infect Dis (2003)
MeSH terms: Anti-Infective Agents / therapeutic use, Ciprofloxacin / therapeutic use, Salmonella typhi / growth & development, Typhoid Fever / drug therapy, Case Reports, Adolescent, Humans, Male, Pakistan, Salmonella typhi / metabolism, Treatment Failure, Anti-Infective Agents, Ciprofloxacin

We report a case of ciprofloxacin treatment failure in a typhoid fever patient at a tertiary care hospital in Rawalpindi, Pakistan. This case shows not only the emergence of fluoroquinolone resistance in typhoid salmonellae but also the inadequacy of the current laboratory guidelines for detection of this resistance.
Versatility of the O-Z flap for back reconstruction after giant basal cell carcinoma resection: A case report and review of the literature
Authors: Matteo Torresetti, Matteo Gioacchini, Alessandro Scalise, Giovanni Di Benedetto
Journal: Int J Surg Case Rep (2019)
Keywords: back reconstruction, flap, giant basal cell carcinoma, o-z flap

Introduction:
Giant basal cell carcinomas are rare and potentially aggressive skin malignancies that are infrequently reported in the Literature, and they usually require aggressive surgical resection and immediate soft tissue reconstruction with skin grafts or flaps. The large size of GBCCs has relevant implications not only for the metastatic potential, but even for the reconstructive challenging due to the possible limited availability of tissues for flap coverage.
Presentation of case:
We report the peculiar case of an old patient who underwent to GBCC resection of the back measuring 16 × 13 cm, and immediate reconstruction with a large O to Z flap harvested from the back; one-year follow-up examination revealed a satisfactory result and no recurrence of the disease was observed.
Discussion:
The review of the Literature showed that reconstructive options are mainly determined by the site and extent of the defect, exposed structures and patient characteristics and comorbidities, and previous series reported the use of skin grafts only, pedicled myocutaneous or perforator flaps, exclusively free flaps and a combination of techniques. Therefore, in this scenario local flaps such as O-Z flaps are less invasive procedures, that usually have lower rate of postoperative complications and shorter hospitalization compared to more complex procedures.
Conclusions:
Despite the use of O-Z flap is quite unusual for back reconstruction, we believe that this flap represents a valid and safe alternative in selected cases, particularly in the elderly and medically compromised patients with multiple comorbidities.
Occult solitary submucosal jejunal metastasis from esophageal carcinoma
Authors: Joerg Lindenmann, Franz Gollowitsch, Veronika Matzi, Christian Porubsky, Alfred Maier, Freyja Maria Smolle-Juettner
Journal: World J Surg Oncol (2005)

Background:
Metastatic tumors of the intestinal tract from extra-abdominal sites are rare. In esophageal cancer, the liver, lung and the bones are the most common sites of metastases. Metastasis to intestines are very rare.
Case presentation:
A 54-year old male was admitted with esophageal squamous cell carcinoma (SCC) associated with dysphagia II-III and weight loss of 20 kg. Preoperative routine staging failed to detect any metastases. A transthoracic esophagectomy and orthotopic gastric pull-up with collar esophago-gastrostomy, associated with 2-field lymphadenectomy was performed. During the digital placement of the naso-jejunal feeding catheter a submucosal jejunal nodule with a diameter of 1 cm, about 40 cm distal to the duodeno-jejunal fold was detected which was completely resected by jejunotomy. Histopathology of jejunal nodule showed metastasis from esophageal squamous cell carcinoma.
Conclusion:
Because of the extensive esophageal lymphatic system, an occult widespread dissemination of the tumor cells into the abdominal cavity is possible. Additional intraoperative evaluation of the small intestine and the complete abdominal cavity should be performed in every operation of esophageal carcinoma to detect possible occult intraabdominal metastases.