OpenMed/multicare-articles huggingface dataset:
Case Report: DOCK8 Deficiency Without Hyper-IgE in a Child With a Large Deletion
Authors: Edna Venegas-Montoya, Aidé Tamara Staines-Boone, Luz María Sánchez-Sánchez, Jorge Alberto García-Campos, Rubén Antonio Córdova-Gurrola, Yuridia Salazar-Galvez, David Múzquiz-Zermeño, María Edith González-Serrano, Saul O Lugo Reyes
Journal: Front Pediatr (2021)
Keywords: dock8 deficiency, hyper-ige, case report, combined immune deficiency, large deletion, literature review
MeSH terms: Case Reports

Autosomal recessive (AR) DOCK8 deficiency is a well-known actinopathy, a combined primary immune deficiency with impaired actin polymerization that results in altered cell mobility and immune synapse. DOCK8-deficient patients present early in life with eczema, viral cutaneous infections, chronic mucocutaneous candidiasis, bacterial pneumonia, and abscesses, together with eosinophilia, thrombocytosis, lymphopenia, and variable dysgammaglobulinemia that usually includes Hyper-IgE. In fact, before its genetic etiology was known, patients were described as having a form of Hyper-IgE syndrome, a name now deprecated in favor of genetic defects. We describe a school-age male patient with a clinical picture suggestive of DOCK8 deficiency, except for high serum IgE or a family history: early onset, failure to thrive, eczema, warts, condyloma, bronchiolitis, pneumonia, recurrent otitis media, bronchiectasis, candidiasis, leukocytosis, eosinophilia, high IgA, low IgG, and low CD4+ T cells. We were able to confirm the diagnosis through protein expression and whole-exome sequencing. We review the clinical, laboratory, and genetic features of 200 DOCK8-deficient patients; at least 4 other patients have had no elevated IgE, and about 40% do not have Hyper-IgE (above 1,000 IU/mL). Despite this, the constellation of signs, symptoms, and findings allow the suspicion of DOCK8 deficiency and other actinopathies.
Epidemiological Indicators of SARS-CoV-2 (COVID-19) and Vaccination Effectiveness on the Report of Positive Cases in the Colombian Army
Authors: Maria Clara Duque, Camilo A Correa-Cárdenas, Sebastián Londoño-Méndez, Carolina Oliveros, Julie Pérez, Carlos D Daza, Lorena Albarracin, Elizabeth K Márquez, Maria T Alvarado, Frank De Los Santos Ortíz, Yanira Romero, Sergio Gutierrez-Riveros, Claudia Méndez
Journal: Front Med (Lausanne) (2021)
Keywords: colombia, sars-cov-2, attack rate, case fatality rate, epidemiology, military forces, molecular and antigen diagnostic tests, mortality rate

The description of the epidemiological indicators of SARS-CoV-2 (COVID-19), such as the mortality rate (MR), the case fatality rate (CFR), and the attack rate (AR), as well as the geographical distribution and daily case reports, are used to evaluate the impact that this virus has had within the Colombian Army and its health system. As military forces around the world represent the force that defends sovereignty, independence, the integrity of the national territory, and the constitutional order, while maintaining migration controls in blocked border areas during this critical pandemic times, they must carry out strict epidemiological surveillance to control the situation among the servicemen. Up to date, the Colombian Army has faced a very high attack rate (AR = 8.55%) due, among others, to living conditions where active military personnel share bedrooms, bathrooms, and dining facilities, which facilitate the spread of the virus. However, being a mainly young and healthy population, the MR was 1.82 deaths/1,000 ha, while the CFR = 2.13% indexes consistently low if compared with those values reported for the national population. In addition, the effectiveness of vaccination is shown in daily cases of COVID-19, where, for the third peak, the active military population presented a decrease of positive patients compared to the dynamics of national transmission and the total population of the military forces (active, retired, and beneficiaries).
Retained intraabdominal gossypiboma, five years after bilateral orchiopexy
Authors: Mohammad Kazem Moslemi, Mehdi Abedinzadeh
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Introduction. Gossypiboma or textiloma is used to describe a retained surgical swab in the body after an operation. Intraabdominal surgical sponge is an uncommon surgical error. The incidence of gossypiboma has been reported as high as 1 in 1000 to 15,000 intraabdominal operations. Gossypiboma may cause serious morbidity and may lead to mortality. Case presentation. Herein, we report a 24 years-old man who was admitted due to the intraabdominal mass after evaluation of primary infertility. He had a surgical history of bilateral abdominal orchiopexy 5 years previously, performed at another hospital. Hydatid cyst was suspected by abdominal computed tomography. After laparotomy excision, the cyst wall opened incidentally, and draining of a large amount of thick pus with retained surgical gauze within the cyst was found, with final diagnosis of gossypiboma. Conclusion. The policy that prevention is far more important than cure is highly appreciated. Accurate sponge and instrument counts, along with radiologic evaluation when a discrepancy is found, can be helpful. Although human errors cannot be completely avoided, continuous medical training and strict adherence to rules of the operation room should reduce the incidence of gossypiboma to a minimum. Surgical sponges should be counted once at the start and twice at the end of all surgical operations.
Carnitine Deficiency after Long-Term Continuous Renal Replacement Therapy
Authors: Caroline Van de Wyngaert, Joseph P Dewulf, Christine Collienne, Pierre-François Laterre, Philippe Hantson
Journal: Case Rep Crit Care (2022)
MeSH terms: Case Reports

A 60-year-old man was admitted in the intensive care unit (ICU) for a rapidly progressive respiratory failure due to SARS-CoV-2 infection. He developed numerous complications including acute kidney injury (AKI) requiring prolonged continuous renal replacement therapy (CRRT). Enteral feeding was initiated on day 8. Despite nutritional management, there was a remarkable amyotrophy and weight loss. On day 85 in the ICU, the patient became progressively unresponsive. An extensive metabolic workup was performed, and blood results showed hyperammoniemia and hypertriglyceridemia. Plasma free carnitine level was low, as was also copper. After carnitine supplementation, the neurological condition rapidly improved, and metabolic perturbations regressed. Prolonged CRRT may be complicated by clinically significant deficiency in micronutrients and trace elements.
Case report: skeletal muscle metastasis from follicular thyroid carcinoma presenting as synovial sarcoma
Authors: Anastasia Stergioula, Evaggelos Pantelis, Theodoros Kormas, Georgios Agrogiannis
Journal: Front Oncol (2023)
Keywords: case report, follicular thyroid carcinoma, skeletal muscle metastasis, soft tissue mass, synovial sarcoma
MeSH terms: Case Reports

Differentiated thyroid carcinomas tend to remain localized and usually are of slow progression with excellent long-term survival. The major sites of distant metastases are cervical lymph nodes, lungs and bones and the minor sites include the brain, liver, pericardium, skin, kidney, pleura and muscle. Skeletal muscle metastases from differentiated thyroid carcinoma, are exceedingly rare. In this report, a 42-year-old woman with follicular thyroid cancer that had had a total thyroidectomy and radioiodine ablation nine years ago was presented with a painful right thigh mass and negative PET/CT scan. The patient had also lung metastases during the follow-up period which were treated with surgery, chemotherapy and radiation therapy. An MRI scan of the right thigh showed a deep-seated lobulated mass with cystic regions, bleeding elements and strong heterogeneous post contrast administration enhancement. Due to the similarities in clinical manifestations and imaging features between soft tissue tumors and skeletal muscle metastases, the case was initially misdiagnosed in favor of synovial sarcoma. Histopathological, immunohistochemistry and molecular analysis of the soft tissue mass confirmed to be a thyroid metastasis and, as a result, a final diagnosis of skeletal muscle metastasis was provided. Even though the probability of a skeletal muscle metastasis from thyroid cancer approaches zero, this study aims to raise the awareness to the medical community that these events do in fact occur in the clinical setting and should be considered in the differential diagnosis of patients with thyroid carcinomas.
IgG4-related Disease: a diagnostic challenge
Authors: Rodrigo Díaz Olmos, Marcelo Arlindo Vasconcelos Miranda Rodrigues, Cristiane Rúbia Ferreira, Rita de Cássia Franco Etrusco, Carla Romagnolli
Journal: Autops Case Rep (2021)
Keywords: immunoglobulin g, immunoglobulin g4-related disease, lymph node excision
MeSH terms: Case Reports

Immunoglobulin IgG4-related disease (IgG4-RD) is an immune-mediated fibroinflammatory condition with a characteristic histopathological appearance that can affect almost any organ. The clinical features result from a focal or diffuse appearance of a tumor-like swelling of the affected organs, identified by physical and/or imaging examination. Herein, we report the case of a 38-year-old male complaining of a worsening chronic right lumbar pain associated with legs and scrotum edema. He also had itchy and erythematous cutaneous lesions on the abdominal wall over the last 8 months, and complained of a diffuse and mild to moderate abdominal discomfort. On examination, the liver was firmly enlarged and tender. His legs had 2+ symmetrical pitting edema extending from his feet to just above the knees. An abdominal computed tomography scan showed a large mass (10 x 8 x 4cm) involving the abdominal infrarenal aorta and the iliac arteries, and compressing the inferior vena cava, with dilated iliac veins, raising the possibility of lymphoproliferative disease. During the initial investigation, the laboratory workup revealed anemia, without other marked changes. A laparoscopic-guided biopsy of the peri-aortic mass was undertaken. The histological report associated with IgG4 immunoglobulin measurement rendered the diagnosis of IgG4-RD. The patient had a favorable outcome after the use of glucocorticoids with the abdominal mass remission.
A Case of Severe Symptomatic Central Nervous System Sarcoidosis Secondary to Treatment with Adalimumab
Authors: Benedicta Nneoma Nnodum, Lida P Hariri, Despoina Mavrommati, Lauren Dudley
Journal: Case Rep Rheumatol (2019)
MeSH terms: Case Reports

Antitumor necrosis factor-α therapy has been used effectively in treatment of many inflammatory diseases such as rheumatoid arthritis, psoriasis, psoriatic arthritis, ankylosing spondylitis, and inflammatory bowel disease. There are increasing number of paradoxical reactions associated with this therapy that are being reported. We present the case of a 63-year-old male with psoriatic arthritis maintained on adalimumab and methotrexate (previous treatment trials of prednisone and leflunomide) who developed severe symptomatic sarcoidosis in the brain, liver, and lung. Upon discontinuation of adalimumab, the symptoms resolved but the imaging findings persisted. Although the development of sarcoidosis (usually in the lung, skin, and eyes) while on antitumor necrosis factor-α therapy is increasingly reported, the brain and liver are less commonly involved but should be borne in mind by physicians when extensive granulomatous lesions develop.
High-resolution MRI of basilar atherosclerosis: three-dimensional acquisition and FLAIR sequences
Authors: Tanya N Turan, Zoran Rumboldt, Truman R Brown
Journal: Brain Behav (2013)
Keywords: basilar artery, cerebral infarction, intracranial atherosclerosis, magnetic resonance imaging, plaque, pontine stroke

This case report describes the use of high-resolution magnetic resonance imaging (HRMRI) to visualize basilar artery atherosclerotic plaque in a patient with a pontine stroke. HRMRI with three-dimensional image acquisition was used to visualize plaque in several planes to localize arterial wall pathology. Fluid attenuated inversion recovery (FLAIR) sequences of the basilar artery showed wall thickening throughout the basilar artery wall and good contrast between the artery wall and cerebrospinal fluid.
Treatment of anorexia nervosa with long-term risperidone in an outpatient setting: case study
Authors: Elsa J Kracke, Aneesh K Tosh
Journal: Springerplus (2014)
Keywords: anorexia nervosa, case report, eating disorders, outpatient treatment, risperidone, secondary amenorrhea

Introduction:
There are currently few studies focusing on the efficacy of long-term atypical antipsychotics to treat anorexia nervosa in the pediatric population.
Case description:
This case report follows the treatment of a 17 year-old female with anorexia nervosa over her four-year undergraduate career. After two years of multidisciplinary treatment, low-dose risperidone was initiated due to persistence of her disease. She expressed decreased rigidity around meal times, her weight improved and she had resumption of menses. She was compliant with treatment through graduation and maintained her weight gain.
Discussion & evaluation:
Atypical antipsychotics are a treatment option in the management of anorexia nervosa. Risperidone has not been studied as frequently as olanzapine for eating disorders. Risperidone was chosen for its more favorable side effect profile and decreased cost to the patient. Previous studies on anorexia nervosa treatment have occurred during inpatient treatment and have limited follow-up due to patients' refusal to initiate or maintain medication compliance. This case presents 17 months of outpatient data. The efficacy of risperidone therapy was evaluated with frequent weight checks, subjective decrease in rigidity, serial complete metabolic panels, and restoration of menses.
Conclusions:
In this case report, an adolescent female treated with low-dose risperidone had decreased rigid thinking, weight gain and resolution of secondary amenorrhea without medication side effects. Therefore, the atypical antipsychotic risperidone may be an effective long-term outpatient treatment option for patients with anorexia nervosa.
Primary Cutaneous Atypical Spindle Cell Lipomatous Tumor
Authors: Madeline S Tchack, Michael Broscius, Martin Reichel
Journal: Case Rep Pathol (2021)
MeSH terms: Case Reports

This report documents an exophytic, pedunculated nodule in a 74-year-old man that upon histopathological examination revealed an atypical spindle cell/pleomorphic lipomatous tumor (ASPLT) confined to the papillary and reticular dermis, representing the fourth documented case within the skin. Despite the overt pleomorphic changes present histologically, the patient is free of metastasis or recurrence five years after surgery.
Case Report: Abnormal ECG in a Patient With Acute Pancreatitis
Authors: Yunxiang Long, Manyun Tang, Jie Wang, Hui Liu, Zhijie Jian, Guoliang Li, Chang Liu
Journal: Front Cardiovasc Med (2021)
Keywords: st-segment elevation myocardial infarction, acute abdomen, case report, coronary computed tomography angiography, diagnosis
MeSH terms: Case Reports

Background: Both acute pancreatitis and acute myocardial infarction (AMI) are rapidly progressive and frequently fatal diseases that can be interrelated and lead to a vicious cycle for further problems. The concomitant occurrence of AMI and acute pancreatitis is rare but critical, and efficient diagnosis and treatment of such patients are challenging. Case Summary: We reported an uncommon case of abnormal ECG findings in a 63-year-old woman with acute pancreatitis. The patient exhibited increased biomarkers of myocardial injury, such as creatine kinase-MB (CK-MB) and troponin T, as well as ST segment elevation in inferior leads II, III, and aVF. Both of these have been previously observed in patients with acute abdomen in the absence of ST-segment elevation myocardial infarction (STEMI), including pancreatitis. In addition, lacking complaints of chest pain or tightness was also supportive of this idea. Echocardiography indicated abnormalities in the functioning of the left inferior posterior wall segments and decreased overall systolic function of the left ventricle with a 51% ejection fraction. Eventually, AMI was diagnosed after coronary computed tomography angiography (CCTA) showing critical stenosis of the right coronary artery and left anterior descending artery segments. The patient was urgently transferred to intensive care unit and was treated with anticoagulation, antiplatelet aggregation, lipid-lowering and other palliative drugs. Conclusion: Concomitant acute pancreatitis and AMI are often considered to be critical conditions with a poor prognosis. Therefore, it is important to rapidly identify this condition and consider transferring patients for multidisciplinary supportive care.
Bilateral Ureteral Stenosis with Hydronephrosis as First Manifestation of Granulomatosis with Polyangiitis (Wegener's Granulomatosis): A Case Report and Review of the Literature
Authors: Joelle Suillot, Jürg Bollmann, Samuel Rotman, Eric Descombes
Journal: Case Rep Nephrol (2020)
MeSH terms: Case Reports

Ureteral stenosis is a rare manifestation of granulomatosis with polyangiitis (formerly known as Wegener's granulomatosis). We report the case of a 76-year-old woman with progressive renal failure in which bilateral hydronephrosis due to ureteral stenosis was the first manifestation of the disease. Our patient also had renal involvement with pauci-immune crescentic glomerulonephritis associated with high titers of anti-proteinase 3 c-ANCAs, but no involvement of the upper or lower respiratory tract. The hydronephrosis and renal function rapidly improved under immunosuppressive therapy with high-dose corticosteroids and intravenous pulse cyclophosphamide. We reviewed the literature and found only ten other reported cases of granulomatosis with polyangiitis/Wegener's granulomatosis and intrinsic ureteral stenosis: in two cases, the presenting clinical manifestation was unilateral hydronephrosis and in only two others was the hydronephrosis bilateral, but this complication developed during a relapse of the disease. This case emphasizes the importance of including ANCA-related vasculitis in the differential diagnosis of unusual cases of unilateral or bilateral ureteral stenosis.
Co-existence of superficial brachio-ulno-radial arterial pattern and persistent median artery
Authors: Lakshmi Ramanathan, Soubhagya R Nayak, K V Vinay, Ashwin Krishnamurthy, Latha V Prabhu
Journal: Indian J Plast Surg (2009)
MeSH terms: Case Reports

The arteries of the upper limbs are situated in a deep plane and are the favourable sites for intra-arterial cannulation. During routine dissection of the left upper limb of a 52-year-old female cadaver, we observed a superficial arterial pattern which was of superficial brachio-ulno-radial type. The right upper limb of the same individual did not show any abnormal arterial pattern. This superficial arterial system was also associated with a palmar type of median artery. The clinical significance of the anomalous arterial system of the upper limb is discussed.
Metastatic basal cell carcinoma with amplification of PD-L1: exceptional response to anti-PD1 therapy
Authors: Sadakatsu Ikeda, Aaron M Goodman, Philip R Cohen, Taylor J Jensen, Christopher K Ellison, Garrett Frampton, Vincent Miller, Sandip P Patel, Razelle Kurzrock
Journal: NPJ Genom Med (2016)
MeSH terms: Case Reports

Metastatic basal cell carcinomas are rare malignancies harbouring Hedgehog pathway alterations targetable by SMO antagonists (vismodegib/sonidegib). We describe, for the first time, the molecular genetics and response of a patient with Hedgehog inhibitor-resistant metastatic basal cell carcinoma who achieved rapid tumour regression (ongoing near complete remission at 4 months) with nivolumab (anti-PD1 antibody). He had multiple hallmarks of anti-PD1 responsiveness including high mutational burden (> 50 mutations per megabase; 19 functional alterations in tissue next-generation sequencing (NGS; 315 genes)) as well as PDL1/PDL2/JAK2 amplification (as determined by both tissue NGS and by analysis of plasma-derived cell-free DNA). The latter was performed using technology originally developed for the genome-wide detection of sub-chromosomal copy-number alterations (CNAs) in noninvasive prenatal testing and showed numerous CNAs including amplification of the 9p24.3-9p22.2 region containing PD-L1, PD-L2 and JAK2. Of interest, PD-L1, PD-L2 and JAK2 amplification is a characteristic of Hodgkin lymphoma, which is exquisitely sensitive to nivolumab. In conclusion, selected SMO antagonist-resistant metastatic basal cell carcinomas may respond to nivolumab based on underlying molecular genetic mechanisms that include PD-L1 amplification and high tumour mutational burden.
Intramesenteric abscess caused by non-typhoidal Salmonella
Authors: Connie Au, Shannon Skochko, Anthony Hung Chau
Journal: IDCases (2022)
Keywords: abscess, intraabdominal infection, salmonella, surgical drainage
MeSH terms: Case Reports

Nontyphoidal Salmonella (NTS) is a common cause of gastroenteritis in humans and animals, but intra-abdominal abscesses or organ space surgical site infection (SSI) secondary to this organism has been rarely reported, making diagnosis and management difficult. Our case of intra-mesenteric abscess caused by NTS species is the only case reported in the literature. Immunocompromising conditions such as diabetes and human immunodeficiency virus (HIV) are important risk factors for invasive nontyphoidal Salmonella. Most patients are treated initially with intravenous antibiotics. Treatment often requires operative drainage by laparoscopy or laparotomy alone, although percutaneous drainage has been performed more frequently in recent years. Early clinical signs and radiographic features of intra-abdominal abscess may be diagnostically challenging. It is important for clinicians to have high index of suspicion based on history and symptomatology as prompt treatment is essential to prevent further morbidity and mortality.
A Case with Hepatic Involvement Mimicking Metastatic Disease in Multiple Myeloma
Authors: Mert Erciyestepe, Tarık Onur Tiryaki, İpek Yönal Hindilerden, Gülçin Yeğen, Meliha Nalçacı
Journal: Case Rep Hematol (2020)
MeSH terms: Case Reports

Multiple myeloma is a type of plasma cell disorder and can be seen in different forms. According to current knowledge, it is not a curable disease. Smoldering multiple myeloma (SMM) is an asymptomatic clonal plasma cell disorder and distinguished from monoclonal gammopathy of undetermined significance by a much higher risk of progression to multiple myeloma. We present a 53-year-old female patient who started with SMM which turned into multiple myeloma after four years. Despite 26 cycles of lenalidomide treatment, we performed the second autologous stem transplantation. After 12 years from the diagnosis of the disease, it was transformed into plasma cell leukemia and widespread nodular lesions were seen in the liver. Different presentations could be seen due to malignant plasma cell infiltrations or primary amyloidosis. Liver involvement is one of them and is less common than other organ involvement. We report a case of myeloma presenting with extensive nodular involvement in the liver and misdiagnosed as metastatic disease. It is important because of its rarity and change of the treatment approach.
Insulinoma presenting as refractory seizure disorder
Authors: Pamela Correia, Roopal Panchani, Rajeev Ranjan, Chandrashekhar Agrawal
Journal: F1000Res (2012)

Hypoglycaemia can lead to acute disorders of cognition, consciousness, epilepsy, transient ischemia, psychosis and chronic disorders of dementia and neuropathy. Misdiagnosis and delay in treatment are common and prolonged hypoglycemia can lead to permanent neurological deficit or fatal coma. Hypoglycemia caused by an insulinoma is a readily treatable condition that should be considered in the differential diagnosis of intractable seizures. The following case report highlights the need for careful reassessment of all seizures that are atypical and refractory to medication.