OpenMed/multicare-articles huggingface dataset:
A C126R de novo Mutation in CYBB Leads to X-linked Chronic Granulomatous Disease With Recurrent Pneumonia and BCGitis
Authors: Jose Antonio Tavares de Albuquerque, Edgar Borges de Oliveira Junior, Nuria Bengala Zurro, Paola Vendramini, Edson Kiyotaka Ishizuka, Daniela de Souza Paiva Borgli, Monica Soares de Souza, Antonio Condino-Neto
Journal: Front Pediatr (2018)
Keywords: cybb gene, nadph oxidase, chronic granulomatous disease (cgd), novel mutation, pneumonia
MeSH terms: Case Reports

Chronic granulomatous disease (CGD) is an innate immune deficiency of phagocytic cells caused by mutations that affect components of the NADPH oxidase system, with resulting impairment in reactive oxygen species production. Patients with CGD are susceptible to recurrent infections and hyperinflammatory responses. Mutations in CYBB lead to the X-linked form of CGD and are responsible for ~ 70% of cases. In this study, we report the case of a 2.5-year-old male patient with recurrent pneumonia and Bacillus Calmette-Guérin infection (BCGitis). As his first clinical manifestation, he presented with bullous impetigo at 18 days of age, which was followed by recurrent pneumonia and regional BCGitis. Genetic analysis revealed a de novo mutation in exon 5 of the CYBB gene: a single-nucleotide substitution, c.376T > C, leading to a C126R change.
A Case Report of Non-puerperal Uterine Inversion due to Submucosa Leiomyoma in a Young Virgin Woman
Authors: Faezeh Moshayedi, Hengameh Sadat Seidaei, Amir Mohammad Salehi
Journal: Case Rep Surg (2022)
MeSH terms: Case Reports

The inversion of the uterus is a rare complication of the puerperium and much rarer during the non-puerperal period. The most common cause of non-puerperal inversion is a submucosa leiomyoma; however, identification can be difficult. Herein, we present a case of pedunculated uterine leiomyoma that causes uterus inversion in a 30-year-old virgin woman with a correct diagnosis; a hysterectomy was prevented for the patient.
Temple syndrome diagnosed in an adult patient with clinical autism spectrum disorder
Authors: Takuro Kimura, Masayo Kagami, Keiko Matsubara, Shuichi Yatsuga, Rio Mukasa, Chiho Yatsuga, Takako Matsumoto, Yasutoshi Koga
Journal: Clin Case Rep (2018)
Keywords: temple syndrome (ts14), autistic spectrum disorders, imprinting disease, natural history
MeSH terms: Case Reports

Temple syndrome (TS14) leads to growth failure, precocious puberty, and diabetes mellitus. However, the long-term prognosis, including the development of social behavior in TS14 patients, remains unclarified. We report the clinical course of a male patient with autism spectrum disorder that received a diagnosis of TS14 at 33 years of age.
Immediate Return to Ambulation and Improved Functional Capacity for Rehabilitation in Complex Regional Pain Syndrome following Early Implantation of a Spinal Cord Stimulation System
Authors: Brandon Jesse Goff, Jeremy Wingseng Naber, John Patrick McCallin, Edward Michael Lopez, Kevin Brant Guthmiller, Karl Alan Lautenschlager, Tristan Toll Lai, Dean Harry Hommer, Gonzalez Raul Marin
Journal: Case Rep Anesthesiol (2014)

Complex regional pain syndrome (CRPS) is a neuropathic pain condition that is characterized by vasomotor, sensory, sudomotor, and motor symptoms. Spinal cord stimulation (SCS) has been successfully utilized for the treatment of pain refractory to conventional therapies. We present a case of a previously highly functioning 54-year-old female who developed a rarely reported case of idiopathic CRPS of the right ankle which spontaneously occurred four months after an uncomplicated anterior cervical disc fusion. This condition resulted in severe pain and functional impairment that was unresponsive to pharmacological management. The patient's rehabilitation was severely stymied by her excruciating pain. However, with the initiation of spinal cord stimulation, her pain was adequately controlled allowing for progression to full unassisted ambulation, advancing functional capacity, and improving quality of life. This case report supports the concept that rapid progression to neuromodulation, rather than delays that occur due to attempts at serial sympathetic blocks, may better control symptoms leading allowing for a more meaningful recovery.
Case report: Bullous pemphigoid associated with sintilimab therapy for pMMR/MSS colorectal cancer
Authors: Ting Wang, Qianwen Shao, Chunmei Xiao, Lianke Liu
Journal: Front Oncol (2023)
Keywords: pd-1, bullous pemphigoid, fruquintinib, pmmr/mss mcrc, sintilimab
MeSH terms: Case Reports

Immunotherapy has become a very effective treatment for many cancers. It has a unique set of immune system-related adverse effects, collectively known as immune-related adverse events (irAEs). Skin toxicities are the most common irAEs, of which bullous pemphigoid, although rare, is potentially life-threatening and affects patients' survival. In this article, we report the treatment of bullous pemphigoid caused by programmed cell death protein-1 (PD-1) in a case of proficient mismatch repair (pMMR)/microsatellite stable (MSS) colorectal cancer. No significant adverse effects were observed in the patient after methylprednisone was tapered to 4 mg twice a day. No new skin lesions occurred recently in the patient and the original skin lesions healed. In particular, the patient's immunotherapy was not stopped and the best outcome was a partial remission of the disease, lasting for more than 8 months.
Imported scrub typhus: first case in South America and review of the literature
Authors: Thomas Weitzel, Mabel Aylwin, Constanza Martínez-Valdebenito, Ju Jiang, Jose Manuel Munita, Luis Thompson, Katia Abarca, Allen L Richards
Journal: Trop Dis Travel Med Vaccines (2018)
Keywords: arthropod-borne diseases, imported infection, orientia tsutsugamushi, scrub typhus, travel
MeSH terms: Case Reports

Background:
Scrub typhus is a neglected vector-borne zoonosis causing life-threatening illnesses, endemic in the Asian-Pacific region and, as recently discovered, in southern Chile. Scrub typhus is rarely reported in travelers, most probably due to the lack of clinical experience and diagnostic tests in non-endemic countries. We report the first case of imported scrub typhus in South America.
Case presentation:
A 62-year-old tourist from South Korea presented severely ill with fever, rash, and eschar in Santiago, Chile. Laboratory exams showed thrombocytopenia and elevated inflammation parameters, hepatic enzymes, and LDH. With the clinical suspicion of scrub typhus, empirical treatment with doxycycline was initiated and the patient recovered rapidly and without complications. The diagnosis was confirmed by IgM serology and by real-time PCR, which demonstrated infection with Orientia tsutsugamushi (Kawasaki clade).
Conclusions:
Only due to the emerging clinical experience with endemic South American scrub typhus and the recent implementation of appropriate diagnostic techniques in Chile, were we able to firstly identify and adequately manage a severe case of imported scrub typhus in South America. Physicians attending febrile travelers need to be aware of this rickettsiosis, since it requires prompt treatment with doxycycline to avoid complications.
Combined awake craniotomy with endoscopic port surgery for resection of a deep-seated temporal lobe glioma: a case report
Authors: Lance Bodily, Arlan H Mintz, Johnathan Engh
Journal: Case Rep Med (2013)

The authors describe the combination of awake craniotomy and minimally invasive endoscopic port surgery to resect a high-grade glioma located near eloquent structures of the temporal lobe. Combined minimally invasive techniques such as these may facilitate deep tumor resection within eloquent regions of the brain, allowing minimum white matter dissection. Technical aspects of this procedure, a case outcome involving this technique, and the direction of further investigations for the utility of these techniques are discussed.
Rarecare: A policy perspective on the burden of rare diseases on caregivers in Latin America
Authors: Ariadne Guimarães Dias, Antoine Daher, Lucy Barrera Ortiz, Sonia Carreño-Moreno, Sylvia R Hafez H, Angela Marie Jansen, Mariana Rico-Restrepo, Lorena Chaparro-Diaz
Journal: Front Public Health (2023)
Keywords: latin america, caregiver, caregiver burden, legislation supporting caregivers, policy, rare disease caregiver, rare diseases
MeSH terms: Caregivers / psychology, Rare Diseases, Review, Research Support, Non-U.S. Gov't, Emotions, Female, Humans, Latin America, Pain

In Latin America (LA), 40-50 million people live with rare diseases (RDs) that require constant monitoring, care, and attention. Caregivers help them with their basic life activities and medication administration, which they would otherwise be unable to perform. Family caregivers complement healthcare and social security systems; however, their unpaid work is often underappreciated and under-protected. Recognizing the need to address these unrecognized and undervalued women, the Americas Health Foundation (AHF) convened a panel of LA experts on caregiving for people with RDs to provide recommendations to support the undervalued family caregivers. A panel of LA experts in caregiving for RDs were given questions to address the challenges faced by family caregivers of people with RDs in LA. During a 3-day conference, the panelists' responses were discussed and edited until the panel agreed on recommendations to address the challenges. The identified challenges for caregivers included physical, emotional, and economical areas. Caregivers, primarily women, experienced physical pain, and social isolation, and were forced to pay substantial out-of-pocket expenses in their caregiving roles. Brazil and Colombia are at the forefront of policies to protect caregivers and their experiences in attempting to provide for this group are outlined as case studies for what is possible in LA. Finally, recognizing that caregivers must be included in formulating, executing, and evaluating care policies for people living with RDs and that the caregivers themselves require social assurances, the panel suggested policy objectives aimed at protecting caregivers of people living with RDs. The recommendations ranged from recognizing the role of the family caregiver as an essential supplement to the formal healthcare system to providing financial assistance, training, and workplace protection, among others. Finally, monitoring and evaluating the impact of policies is necessary to ensure that LA is moving forward in caring for family caregivers for people with RDs.
Delusions of disseminated fungosis
Authors: Ian Gassiep, Paul Matthew Griffin
Journal: Case Rep Infect Dis (2014)

Introduction. Delusional infestation is a rare monosymptomatic hypochondriacal psychosis according to The Diagnostic and Statistical Manual of Mental Disorders (5th ed.; DSM-5; American Psychiatric Association, 2013). It can be a primary disorder or associated with an underlying psychological or physical disorder. It commonly presents as delusional parasitosis, and less than 1% may be fungi related. We present this case as it is a rare presentation of a rare condition. Case Presentation. Our patient is a 60-year-old Caucasian man who presented with a 7-year history of delusional infestation manifested as a disseminated fungal infection. He had previously been reviewed by multiple physicians for the same with no systemic illness diagnosed. After multiple reviews and thorough investigation we diagnosed him with a likely delusional disorder. As is common with this patient cohort he refused psychiatric review or antipsychotic medication. Conclusion. A delusion of a disseminated fungal infestation is a rare condition. It is exceedingly difficult to treat as these patients often refuse to believe the investigation results and diagnosis. Furthermore, they either refuse or are noncompliant with treatment. Multidisciplinary outpatient evaluation may be the best way to allay patient fears and improve treatment compliance.
Case report: Post-streptococcal pustulosis after subcutaneous injection of secukinumab
Authors: Xiaoqing Lang, Hongmei Bi, Yingjie Zhang, Hongzhou Cui, Hongye Liu, Ling Ren, Yao Dang, Shuping Guo
Journal: Front Med (Lausanne) (2023)
Keywords: case report, group a β-hemolytic streptococcus, pustulosisacuta generalisata, secukinumab, skin rash
MeSH terms: Case Reports

An acute diffuse pustular eruption occurred in a patient after secukinumab injection and then the clinical presentation has been related to streptococcus infection after it has been isolated from throat swabs. Pustulosisacuta generalisata was definitively diagnosed. Antibiotic treatment had a poor effect, but the response to glucocorticoids was better.
The effect of bisphosphonate medication on orthodontics and orthognathic surgery in patients with osteogenesis imperfecta
Authors: Reinhard E Friedrich, Hanna A Scheuer, Wolf Höltje
Journal: GMS Interdiscip Plast Reconstr Surg DGPW (2019)
Keywords: bisphosphonate, oral surgery, orthodontics, orthognathic surgery, osteogenesis imperfecta
MeSH terms: Review

Introduction: Osteogenesis imperfecta (OI) is a genetic disease that primarily affects bone formation and metabolism. Craniofacial malformations belong to the broad spectrum of the OI phenotype. The introduction of bisphosphonate medications was intended to counteract the significant brittleness of the bones of OI patients. In connection with the application of bisphosphonates, drug-associated osteonecrosis of the jaw has become known as an undesirable effect of the therapeutically intended reduction of osteoclast activity. Originally, the pharmacological inhibition of bone loss was mainly used in oncological therapy. For some time now, osteoporosis has also been treated with substances that inhibit bone resorption. In OI, malposition of the jaws is relatively common, in particular retrognathia of the maxilla and progeny of the mandible. The literature discloses complications of orthognathic surgery in OI patients. Previous literature reviews suggest that bisphosphonate medication has no significant impact on the performance of and healing after oral surgery in OI patients. Material and methods: An essential prerequisite of a therapy adapted to the patient's condition is the knowledge of the patient's medical history. This case report describes the orthodontic-surgical treatment of an OI patient and the treatment experience derived in dealing with the condition. The unusual circumstance of this case is that the patient had concealed both his underlying disease and his medication during the current treatment period. In addition, the relevant literature is evaluated for combining the keywords OI, orthodontic therapy, bisphosphonates, and orthognathic surgery. Results: Based on the literature and our own experience, it is concluded that orthodontic treatment with bisphosphonate medication can also be carried out in OI patients. However, considerably greater forces and longer time intervals should be scheduled for each treatment. Orthognathic surgery with bisphosphonate medication turned out to be uncomplicated in our own case, considering the underlying disease in the planning of surgical procedures. However, there have been very few reports of OI patients in whom orthodontic-surgical treatment of jaw malformation has been performed with bisphosphonate medication. Conclusion: Taking into account the reported experience of severe complications of orthognathic surgery, the multiple documented adjustments to the treatment strategy of OI patients should be taken seriously. The basic condition of therapy adapted to the disease is that the patient informs the practitioner in an appropriate manner about his or her state of health.
Hybrid procedure to treat aortic arch aneurysm combined with aortic arch coarctation and left internal carotid artery aneurysm (Case Report)
Authors: Weimin Zhou, Wei Zhou, Jiehua Qiu, Qingzhong Zeng
Journal: J Cardiothorac Surg (2014)
MeSH terms: Aneurysm / therapy, Aortic Coarctation / therapy, Blood Vessel Prosthesis Implantation / methods, Carotid Artery, Internal, Embolization, Therapeutic / methods, Endovascular Procedures / methods, Stents, Case Reports, Aneurysm / complications, Aneurysm / diagnostic imaging, Angiography, Digital Subtraction, Aortic Aneurysm, Thoracic / complications, Aortic Aneurysm, Thoracic / diagnostic imaging, Aortic Aneurysm, Thoracic / therapy, Aortic Coarctation / complications, Aortic Coarctation / diagnostic imaging, Follow-Up Studies, Humans, Male, Middle Aged, Time Factors, Tomography, X-Ray Computed

Aortic arch aneurysm is a rare condition but carries a high risk of rupture. We report one case of aortic arch aneurysm combined with aortic arch coarctation and left internal carotid artery aneurysm, which is extremely rare. Left internal carotid artery aneurysm resection and revascularization, carotid and carotid graft bypass combined with endovascular stent graft and embolization with coils were successfully performed. There were no any complaints and complications at 8 months follow-up. The follow-up CTA demonstrated thrombus formation in the aneurysm lumen, no endoleak and the aortic arch and bypass graft were all patent. We feel that hybrid procedure may be a valuable therapeutic alternative when treating this type of lesion. However, long-term clinical efficacy and safety have yet to be confirmed.
Normal coronary artery patient presenting with left ventricular aneurysm
Authors: Hakan Altay, Cihan Altin, Ali Coner, Haldun Muderrisoglu
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Left ventricular aneurysm (LVA) is one of the most important complications of myocardial infarction LVA is strictly defined as a distinct area of abnormal left ventricular diastolic contour with systolic dyskinesia or paradoxical bulging. LVA usually results from myocardial infarction. Other rare aetiologies of LVA include hypertrophic cardiomyopathy, Chagas' disease, sarcoidosis, congenital LVA, and idiopathic However, LVA formation in patients with idiopathic dilated cardiomyopathy is rarely reported, and the incidence, clinical features, and pathogenesis of LVA formation in patients with idiopathic dilated cardiomyopathy is not well understood. Here, we present a 45 years old, idiopathic dilated cardiomyopathy patient with LVA and normal coronary arteries The pathogenesis of LVA formation in patients with idiopathic dilated cardiomyopathy is not clear. One acceptable hypothesis is that coronary artery emboli originate from mural thrombi, present in some patients with idiopathic dilated cardiomyopathy, which develop due to local wall infarction and fibrosis. The local myocardial perfusion differences could be seen in idiopathic dilated cardiomyopathy and predominantly found in the anteroposterior axis of the left ventricle. Local fibrosis occurs more frequently on the anterior wall or posterior wall, and less frequently on the lateral or septal wall. In our patient, LVA existed in the septal segments.We could not define the exact mechanism of the septal aneurysm in our patient but we decided to present this abnormal case, which is different from cases thus far reported in the literature.
Primary orbital mesenchymal chondrosarcoma: case report and review of the literature
Authors: Angel Herrera, Cesar Ortega, Gervith Reyes, Miguel Angel Alvarez, Daniela Tellez
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Orbital mesenchymal chondrosarcoma is a very uncommon lesion of the bone and extraskeletal tissue. To our knowledge, approximately 30 cases have been described. We present the case of a 52-year-old male who presented with a history of progressive proptosis and chemosis of the right eye caused by an orbital tumor. He underwent exenteration of the right orbit, and the histological examination revealed a mesenchymal orbital chondrosarcoma. This paper attempts to describe a rare entity that should be considered in the differential diagnosis of calcified orbital lesions, especially in young adults. Complete removal of the tumor is the mainstay of treatment, but adjuvant radiation therapy and chemotherapy should be considered.
Case report: Peroral endoscopic myotomy for acute pandysautonomia-associated distal esophageal spasm in a child
Authors: Hanhua Zhang, Biyun Chi, Fengfan Wang, Pei Shao, Huanyu Liu, Ying Fang
Journal: Front Pediatr (2023)
Keywords: poem, acute pandysautonomia, children, distal esophageal spasm, rare case
MeSH terms: Case Reports

Acute pandysautonomia-associated distal esophageal spasm is a rare disease with an unclear etiology. Here, we describe a 12-year-old boy with an acute pandysautonomia-associated distal esophageal spasm who was treated using a peroral endoscopic myotomy (POEM). The patient's clinical features included recurrent dysphagia, nausea, vomiting, growth retardation, and signs of autonomic nerve dysfunction (e.g., a decreased production of tears and sweat, and an increased production of saliva). Signs of the distal esophageal spasm were visible in upper gastrointestinal radiography, endoscopy, and high-resolution esophageal manometry. After the POEM, the patient exhibited improvements in nausea and vomiting, and his dysphagia symptoms were relieved by the 6-month follow-up visit. However, the patient's neurological problems persisted. The satisfactory short-term clinical responses in our patient suggest that POEM is feasible, safe, and effective for the treatment of acute pandysautonomia-associated distal esophageal spasms in children.
Two Atypical Cases of Hantavirus Infections from Sri Lanka
Authors: N D B Ehelepola, B M L S Basnayake, S M B Y Sathkumara, K L R Kaluphana
Journal: Case Rep Infect Dis (2018)
MeSH terms: Case Reports

There are two categories of hantaviruses resulting in two distinct illnesses. The Old World (Asia and Europe) viruses give rise to hemorrhagic fever with renal syndrome (HFRS), and the New World (Americas) viruses cause hantavirus pulmonary syndrome (HPS). Hantavirus infections have very similar clinical pictures and epidemiology to leptospirosis. Here, we present two cases of hantavirus infections from Sri Lanka (in South Asia) initially misdiagnosed as leptospirosis and later further investigated and diagnosed as hantavirus infections with serological confirmation of the diagnosis. They had clinical pictures of a combination of both HFRS and HPS as well as the involvement of the central nervous system. Hantavirus infections are rarely diagnosed in South Asia. Reports on such atypical clinical pictures of hantavirus infections are extremely rare. Having arrived at the correct diagnosis late/retrospectively, both these patients recovered notwithstanding being seriously ill, indicating adequate supportive therapy can save lives in such cases. The emergence of the hantavirus, an infection seriously affecting multiple organ systems with a high case fatality rate that is spread by aerosol and other routes, could become a serious public health issue in Sri Lanka.