OpenMed/multicare-articles huggingface dataset:
Asymptomatic Congenital Hyperinsulinism due to a Glucokinase-Activating Mutation, Treated as Adrenal Insufficiency for Twelve Years
Authors: Kae Morishita, Chika Kyo, Takako Yonemoto, Rieko Kosugi, Tatsuo Ogawa, Tatsuhide Inoue
Journal: Case Rep Endocrinol (2017)
MeSH terms: Case Reports

Congenital hyperinsulinism (CHI) caused by a glucokinase- (GCK-) activating mutation shows autosomal dominant inheritance, and its severity ranges from mild to severe. A 43-year-old female with asymptomatic hypoglycemia (47 mg/dL) was diagnosed as partial adrenal insufficiency and the administration of hydrocortisone (10 mg/day) was initiated. Twelve years later, her 8-month-old grandchild was diagnosed with CHI. Heterozygosity of exon 6 c.590T>C (p.M197T) was identified in a gene analysis of GCK, which was also detected in her son and herself. The identification of GCK-activating mutations in hyperinsulinemic hypoglycemia patients may be useful for a deeper understanding of the pathophysiology involved and preventing unnecessary glucocorticoid therapy.
A novel approach for measuring the burden of uncomplicated Plasmodium falciparum malaria: application to data from Zambia
Authors: Valerie Crowell, Joshua O Yukich, Olivier J T Briët, Amanda Ross, Thomas A Smith
Journal: PLoS One (2013)
MeSH terms: Malaria, Falciparum / parasitology, Research Support, Non-U.S. Gov't, Humans, Malaria, Falciparum / epidemiology, Prevalence, Zambia / epidemiology

Measurement of malaria burden is fraught with complexity, due to the natural history of the disease, delays in seeking treatment or failure of case management. Attempts to establish an appropriate case definition for a malaria episode has often resulted in ambiguities and challenges because of poor information about treatment seeking, patterns of infection, recurrence of fever and asymptomatic infection. While the primary reason for treating malaria is to reduce disease burden, the effects of treatment are generally ignored in estimates of the burden of malaria morbidity, which are usually presented in terms of numbers of clinical cases or episodes, with the main data sources being reports from health facilities and parasite prevalence surveys. The use of burden estimates that do not consider effects of treatment, leads to under-estimation of the impact of improvements in case management. Official estimates of burden very likely massively underestimate the impact of the roll-out of ACT as first-line therapy across Africa. This paper proposes a novel approach for estimating burden of disease based on the point prevalence of malaria attributable disease, or equivalently, the days with malaria fever in unit time. The technique makes use of data available from standard community surveys, analyses of fever patterns in malaria therapy patients, and data on recall bias. Application of this approach to data from Zambia for 2009-2010 gave an estimate of 2.6 (95% credible interval: 1.5-3.7) malaria attributable fever days per child-year. The estimates of recall bias, and of the numbers of days with illness contributing to single illness recalls, could be applied more generally. To obtain valid estimates of the overall malaria burden using these methods, there remains a need for surveys to include the whole range of ages of hosts in the population and for data on seasonality patterns in confirmed case series.
Kawasaki Disease Complicated by Salmonella oranienburg Coinfection
Authors: Zachary Barbara, Savannah P Ellenwood, Emily D Loe, Joon Choi, Kathleen Ryan, Nancy Joseph
Journal: Case Rep Pediatr (2021)
MeSH terms: Case Reports

Kawasaki disease is a medium vessel vasculitis with a multisystem presentation affecting 9-20 per 100,000 children under 5 years of age in the United States. Salmonella coinfection has not been previously described. We present a 12-month-old vaccinated male with Kawasaki disease in the setting of Salmonella bacteremia. Initial intervention for the Kawasaki disease with IVIG was ineffective, prompting adjunctive therapy with anakinra, with eventual full recovery. Concurrent Kawasaki disease and bacteremia may confound diagnosis and necessitate nontraditional treatment approaches.
Is Animal-Assisted Therapy for Minimally Conscious State Beneficial? A Case Study
Authors: Jacqueline P Boitier, Marion Huber, Christian Saleh, Matthew J Kerry, Margret Hund-Georgiadis, Karin Hediger
Journal: Front Psychiatry (2020)
Keywords: animal-assisted therapy, behavior, disorders of consciousness, human-animal interaction, minimally conscious state, neurorehabilitation
MeSH terms: Case Reports

Objective:
The goal of this single case study was to qualitatively investigate the effects of animal-assisted therapy in a patient in a minimally conscious state.
Method:
We present a 28-year-old female patient in a minimally conscious state following polytrauma after a sports accident leading to cerebral fat embolism causing multiple CNS ischemic lesions. She received eight animal-assisted therapy sessions and eight paralleled control therapy sessions over 4 weeks. We investigated the reactions of the patient during these sessions via qualitative behavior analysis.
Results:
The patient showed a broader variability and higher quality of behavior during animal-assisted therapy compared to control therapy sessions.
Conclusion:
The observed behavioral changes showed higher arousal and increased awareness in the presence of an animal. The presented case supports the assumption that animal-assisted therapy can be a beneficial treatment approach for patients in a minimally conscious state.
Comprehensive Genomic Characterization of A Case of Granular Cell Tumor of the Posterior Pituitary Gland: A Case Report
Authors: Christopher S Hong, Aladine A Elsamadicy, Adeniyi Fisayo, Silvio E Inzucchi, Pallavi P Gopal, Eugenia M Vining, E Zeynep Erson-Omay, Sacit Bulent Omay
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: pax8, setd2, case report, granular cell, pituitary, sequencing
MeSH terms: Granular Cell Tumor / genetics, Pituitary Gland, Posterior / pathology, Pituitary Neoplasms / genetics, Case Reports, Research Support, Non-U.S. Gov't, Aged, Female, Genomics / methods, Humans, Hypothyroidism / genetics, Pituitary Neoplasms / pathology

Granular cell tumors of the pituitary belong to a rare family of neoplasms, arising from the posterior pituitary gland. Although considered benign, they may cause significant morbidity and residual disease after resection can lead to poor clinical outcomes. Currently, there is no known medical therapy for any posterior pituitary gland tumor, in part due to sparse molecular characterization of these lesions. We report data from whole exome sequencing of a case of granular cell tumor of the pituitary, performed under an institutional review board approved protocol. A 77 year-old female underwent resection of an incidentally diagnosed pituitary mass that was causing radiographic compression of the optic nerves with a subclinical temporal field defect and central hypothyroidism. The pathology of the resected specimen demonstrated a granular cell tumor of the posterior pituitary gland. Whole-exome sequencing revealed mutations predicted to be deleterious in key oncogenes, SETD2 and PAX8, both of which have been described in other cancers and could potentially be amenable to targeted therapies with existing approved drugs, including immune checkpoint inhibitors and histone deacetylase inhibitors, respectively. To our knowledge, this is the first comprehensive genomic characterization of granular cell tumor of the posterior pituitary gland. We report mutations in oncogenes predicted to be deleterious and reported in other cancers with potential for therapeutic targeting with existing pharmacologic agents. These data provide new insights into the molecular pathogenesis of GCT of the pituitary and may warrant further investigation.
Covid-19 mimicking symptoms in emergency gastrointestinal surgery cases during pandemic: A case series
Authors: Adeodatus Yuda Handaya, Joshua Andrew, Ahmad Shafa Hanif, Aditya Rifqi Fauzi
Journal: Int J Surg Case Rep (2020)
Keywords: covid-19 pandemic, covid-19 symptoms, emergency surgery, gastrointestinal emergency case, respiratory symptoms
MeSH terms: Review

Background:
The COVID-19 pandemic has changed patient management in all sectors. All patients need to be examined for COVID-19, including in digestive surgery emergency cases. In this paper, we report four digestive surgery emergency cases with clinical and radiological findings similar to COVID-19.
Case presentation:
We report four digestive surgery emergency cases admitted with fever and cough symptoms. Case 1 is a 75-year-old male with gastric perforation and pneumonia, case 2 is a 32-year-old female with intestinal and pulmonal tuberculosis, case 3 is a 30-year-old female with acute pancreatitis with pleuritis and pleural effusion, and the last case is a 56-year-old female with rectosigmoid cancer with pulmonal metastases. All the patients underwent emergency laparotomy, were hospitalized for therapy, and discharged from the hospital. After 1-month follow-up after surgery, 1 patient had no complaints, 2 patients had surgical site infection, and 1 patient died because of ARDS due to lung metastases.
Discussion:
For all four cases, the surgeries were done with strict COVID-19 protocol which included patient screening, examination, laboratory assessment, rapid test screening, and RT-PCR testing. There were no intrahospital mortalities and all the patients were discharged from the hospital. Three patients were followed-up and recovered well with 2 patients having surgical site infection which recovered within a week. However, 1 patient did not show up for the scheduled follow-up and was reported dead 2 weeks after surgery because of ARDS due to lung metastases.
Conclusions:
Emergency surgery, especially digestive surgery cases, can be done in the COVID-19 pandemic era with strict prior screening and examination, and safety protocol.
Short-Term Isoflavone Intervention in the Treatment of Severe Vasomotor Symptoms after Surgical Menopause: A Case Report and Literature Review
Authors: Supanimit Teekachunhatean, Natnita Mattawanon, Surapan Khunamornpong
Journal: Case Rep Obstet Gynecol (2015)

Isoflavones are soy phytoestrogens that potentially exert various favorable effects in postmenopausal women, for example, alleviating vasomotor episodes, attenuating bone loss, and stimulating vaginal epithelial maturation. There has, however, been lack of consensus regarding those therapeutic effects. Most clinical studies of isoflavones have been conducted with women who had undergone natural menopause, but not those who had undergone surgical menopause. This study reports on a 51-year-old woman who presented with severe vasomotor episodes after undergoing a hysterectomy and a bilateral oophorectomy due to hypermenorrhea secondary to myoma uteri. She refused hormone therapy due to fear of adverse drug reactions so was treated with oral soy isoflavones (two capsules twice daily, equivalent to at least 100 mg daily dose) for 8 weeks. The number and severity of hot flushes and her menopause-specific quality of life dramatically improved from baseline values. The serum bone resorption marker (beta C-telopeptide) decreased markedly, while vaginal epithelial maturation improved slightly, suggesting the potential of isoflavones in attenuating bone loss and stimulating vaginal maturation. The intervention did not adversely affect the hormonal profile (FSH, LH, and estradiol) and liver or renal functions. Thus, isoflavones could be an option for women experiencing severe vasomotor episodes after surgical menopause.
Diagnosis of Evans syndrome
Authors: Andreas Angelopoulos, George Kirkilesis, Kiriaki Kakavia, Paraskevi Papanikolaou
Journal: Pan Afr Med J (2021)
Keywords: evans syndrome, anemia, hemolysis, thrombocytopenia
MeSH terms: Anemia, Hemolytic, Autoimmune / diagnosis, Thrombocytopenia / diagnosis, Case Reports, Aged, 80 and over, Anemia, Hemolytic, Autoimmune / physiopathology, Anemia, Hemolytic, Autoimmune / therapy, Blood Transfusion / methods, Diagnosis, Differential, Female, Glucocorticoids / administration & dosage, Humans, Thrombocytopenia / physiopathology, Thrombocytopenia / therapy, Glucocorticoids, Evans Syndrome

This manuscript concerns the case of a patient hospitalized and diagnosed with Evans syndrome. She was hospitalized with signs of thrombocytopenia induced purpura, petechiae, ecchymosis and anemia. She was successfully treated with corticoids and blood transfusions. Our purpose is to explain her clinical presentation and the exams, we used in order to make the diagnosis of Evans syndrome, which requires great suspicion. Moreover, other diseases causing hemolytic anemia and thrombocytopenia must be excluded. We used laboratory tests (blood samples, Coombs examination and virologic test). Bone marrow examination took place twice. Evans syndrome is an autoimmune disease which is characterized by the coexistence of hemolytic anemia and immune-mediated thrombocytopenia. There is no typical clinical presentation. Its etiology is unknown and its therapy is generally poor. Diagnosis of Evans syndrome is very difficult and requires the exclusion of other diseases causing anemia and thrombocytopenia.
Alsin related disorders: literature review and case study with novel mutations
Authors: Filipa Flor-de-Lima, Mafalda Sampaio, Nahid Nahavandi, Susana Fernandes, Miguel Leão
Journal: Case Rep Genet (2014)

Mutations in the ALS2 gene cause three distinct disorders: infantile ascending hereditary spastic paraplegia, juvenile primary lateral sclerosis, and autosomal recessive juvenile amyotrophic lateral sclerosis. We present a review of the literature and the case of a 16-year-old boy who is, to the best of our knowledge, the first Portuguese case with infantile ascending hereditary spastic paraplegia. Clinical investigations included sequencing analysis of the ALS2 gene, which revealed a heterozygous mutation in exon 5 (c.1425_1428del p.G477Afs*19) and a heterozygous and previously unreported variant in exon 3 (c.145G>A p.G49R). We also examined 42 reported cases on the clinical characteristics and neurophysiological and imaging studies of patients with known ALS2 gene mutations sourced from PubMed. This showed that an overlap of phenotypic manifestations can exist in patients with infantile ascending hereditary spastic paraplegia, juvenile primary lateral sclerosis, and juvenile amyotrophic lateral sclerosis.
Hepatitis B associated monoclonal gammopathy that resolved after successful liver transplant
Authors: P Sreenivasan, S Nair
Journal: J Transplant (2009)
MeSH terms: Case Reports

Monoclonal gammopathy of undetermined significance (MGUS) has been most commonly associated with diseases like multiple myeloma, Waldenstrom's macroglobulinemia, primary systemic amyloidosis, HIV, and other lymphoproliferative disorders. There has been an isolated report of MGUS in patients coinfected with HIV and Hepatitis B, as the work by Amara et al. in 2006. Here, we report a case of IgA-kappa light chain gammopathy secondary to Hepatitis B infection, which resolved after liver transplantation. To our knowledge, this is the first reported case of M protein spike seen in the context of Hepatitis B infection only.
Integration of HIV/AIDS services into African primary health care: lessons learned for health system strengthening in Mozambique - a case study
Authors: James Pfeiffer, Pablo Montoya, Alberto J Baptista, Marina Karagianis, Marilia de Morais Pugas, Mark Micek, Wendy Johnson, Kenneth Sherr, Sarah Gimbel, Shelagh Baird, Barrot Lambdin, Stephen Gloyd
Journal: J Int AIDS Soc (2010)
MeSH terms: Acquired Immunodeficiency Syndrome / drug therapy, Anti-HIV Agents / therapeutic use, HIV Infections / drug therapy, Primary Health Care, Research Support, Non-U.S. Gov't, Delivery of Health Care, Humans, Mozambique, Anti-HIV Agents

Introduction:
In 2004, Mozambique, supported by large increases in international disease-specific funding, initiated a national rapid scale-up of antiretroviral treatment (ART) and HIV care through a vertical "Day Hospital" approach. Though this model showed substantial increases in people receiving treatment, it diverted scarce resources away from the primary health care (PHC) system. In 2005, the Ministry of Health (MOH) began an effort to use HIV/AIDS treatment and care resources as a means to strengthen their PHC system. The MOH worked closely with a number of NGOs to integrate HIV programs more effectively into existing public-sector PHC services.
Case description:
In 2005, the Ministry of Health and Health Alliance International initiated an effort in two provinces to integrate ART into the existing primary health care system through health units distributed across 23 districts. Integration included: a) placing ART services in existing units; b) retraining existing workers; c) strengthening laboratories, testing, and referral linkages; e) expanding testing in TB wards; f) integrating HIV and antenatal services; and g) improving district-level management.
Discussion:
By 2008, treatment was available in nearly 67 health facilities in 23 districts. Nearly 30,000 adults were on ART. Over 80,000 enrolled in the HIV/AIDS program. Loss to follow-up from antenatal and TB testing to ART services has declined from 70% to less than 10% in many integrated sites. Average time from HIV testing to ART initiation is significantly faster and adherence to ART is better in smaller peripheral clinics than in vertical day hospitals. Integration has also improved other non-HIV aspects of primary health care.
Conclusion:
The integration approach enables the public sector PHC system to test more patients for HIV, place more patients on ART more quickly and efficiently, reduce loss-to-follow-up, and achieve greater geographic HIV care coverage compared to the vertical model. Through the integration process, HIV resources have been used to rehabilitate PHC infrastructure (including laboratories and pharmacies), strengthen supervision, fill workforce gaps, and improve patient flow between services and facilities in ways that can benefit all programs. Using aid resources to integrate and better link HIV care with existing services can strengthen wider PHC systems.
Case report: Composite mantle cell lymphoma and classical Hodgkin lymphoma
Authors: Hongyu Wang, Liqun Yang, Qiuyao Li, Haiyun Song, Hong Ji
Journal: Pathol Oncol Res (2023)
Keywords: classical hodgkin lymphoma, composite lymphoma, histogenesis, mantle cell lymphoma, next-generation sequencing
MeSH terms: Hodgkin Disease / genetics, Hodgkin Disease / pathology, Lymphoma, Mantle-Cell / genetics, Lymphoma, Mantle-Cell / pathology, Review, Case Reports, Adult, Humans, In Situ Hybridization, Fluorescence, Mutation

Composite mantle cell lymphoma and classical Hodgkin lymphoma is very rare and the actual origin of it is still unclear. Here we reported a new case of composite mantle cell lymphoma and classical Hodgkin lymphoma and analyzed its molecular changes. Eight mutations were identified in its Hodgkin component through next-generation sequencing. In addition, we reviewed the published cases of composite mantle cell lymphoma and classical Hodgkin lymphoma and summarized the molecular changes of reported cases as well as the current case to explore the possible pathway of histogenesis.
Managing complex trauma injuries in the elderly: a case report of a free flap and circular frame in a 95-year old patient with an open IIIB tibial fracture
Authors: Charlotte Hammonds, Philippa C Jackson, Patrick Foster, Jonathan D Wiper
Journal: Eur J Plast Surg (2018)
Keywords: circular frame, elderly, free flap, trauma

In an ageing population, increasing numbers of patients over the age of 70 are sustaining severe trauma. These patients require careful multidisciplinary team (MDT) management with careful consideration of existing co-morbidities, as such their treatment should be individually tailored. We present the case of a patient believed to be the oldest documented patient treated in a trauma setting with free flap and circular frame fixation to an open tibial fracture. A 95-year-old male presented to the Level 1 Major Trauma Centre (MTC) with multiple injuries after a pedestrian vs car incident. His injury severity score (ISS) was 22. For treatment of his open tibial fracture, he required soft tissue coverage with a free anterolateral thigh (ALT) flap, and circular frame application. Microsurgery was performed after consultation with the MDT and was uneventful. The circular frame was removed after 10 months and the patient went on to regain pre-injury mobility. Use of free tissue transfer in elderly patients is well documented in the elective setting, but less so in trauma. This case demonstrates that careful patient selection, attention to detail and MDT working can result in an excellent outcome for the patient. The challenges faced in treating this patient will be described in detail.
Level of evidence:
Level V, therapeutic study.
Myocarditis and myositis/myasthenia gravis overlap syndrome induced by immune checkpoint inhibitor followed by esophageal hiatal hernia: A case report and review of the literature
Authors: Beibei Yin, Junjuan Xiao, Xuan Wang, Xingyu Li, Yaping Guan, Jinghua Chen, Pengxi Han, Kun Li, Jun Wang
Journal: Front Med (Lausanne) (2022)
Keywords: pd-1 inhibitor, esophageal hiatal hernia, immune-related adverse event, myasthenia, myocarditis, myositis
MeSH terms: Case Reports

Immunotherapy with programmed death 1 (PD-1) inhibitor has shown activity as first- or second-line treatment for various metastatic human malignancies. Immune-related adverse events (irAEs) are now well-described, and most organ sites are potentially influenced, but the prevalence of myocarditis and myositis/myasthenia gravis (MG) overlap syndrome following esophageal hiatal hernia induced by immunotherapy is rarely reported. Here, we describe a 71-year-old woman with a progressed unresectable extrahepatic cholangiocarcinoma and biliary obstruction. She had no prior history of muscle weakness and neuromuscular disease with a normal body mass index. She was treated with sintilimab as a rescue regimen of immunotherapy. After the first cycle of treatment, she experienced a grade 4 myopathy including simultaneous myositis, myalgia, and myocarditis due to multiple injuries in her cardiac, skeletal, and ocular muscles. She had elevated levels of creatine kinase (CK), cardiac troponin I, and myoglobin (MYO), but MG and myositis-specific and myositis-related antibodies were negative. Immunotherapy was discontinued and pulse high-dose methylprednisolone with a slow tapering and intravenous immunoglobulin (IVIG) was initiated. Two weeks later, the patient's clinical presentation improved significantly. A subsequent cardiac magnetic resonance (MR) examination revealed an old myocardial injury that may be a result of immune-related cardiac toxicity. In the third month following the PD-1 inhibitor therapy, she restarted systemic chemotherapy in combination with an anti-angiogenic agent but without immunotherapy. Half a year later, she complained of repeated abdominal distension and radiographic examinations and endoscopy showed a clinically confirmed diagnosis of sliding hiatal hernia of the esophagus and gastroesophageal reflux disease. Due to mild symptoms associated with gastroesophageal reflux, she was suggested close monitoring with acid secretion blockade rather than immediate surgical intervention. The severity for patients with myositis and myocarditis accompanied without MG is similar to those with MG. Considering the use of PD-1 inhibitors is increasing in cancer patients, physicians should therefore pay more attention to immunotherapy-induced myocarditis with myositis/MG overlap syndrome. Since we hypothesize diaphragmatic hiatal hernia as a potential consequence of immunotherapy-induced myositis, reports on hiatal hernias subsequent to immunotherapy-induced myositis are needed.