OpenMed/multicare-articles huggingface dataset:
Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease-A Serious Cause of Mortality
Authors: Jacqueline D Squire, Stephanie N Vazquez, Angela Chan, Michele E Smith, Deepak Chellapandian, Laura Vose, Beatriz Teppa, I Celine Hanson, Ivan K Chinn, Lisa Forbes-Satter, Filiz O Seeborg, Sarah K Nicholas, Caridad A Martinez, Carl E Allen, Thomas J Connors, Prakash Satwani, Maria Shtessel, Hanadys Ale, Lenora M Noroski, Nicholas L Rider, Joshua D Milner, Jennifer W Leiding
Journal: Front Immunol (2020)
Keywords: case report, chronic granulomatous disease, hemophagocytic lymphohistiocytosis, infection, inflammation, primary immune deficiency, sepsis
MeSH terms: Granulomatous Disease, Chronic / complications, Granulomatous Disease, Chronic / mortality, Lymphohistiocytosis, Hemophagocytic / etiology, Lymphohistiocytosis, Hemophagocytic / mortality, Case Reports, Research Support, N.I.H., Extramural, Adolescent, Hematopoietic Stem Cell Transplantation / methods, Humans, Immunosuppression Therapy / methods, Infant, Male, Sepsis / etiology, Sepsis / mortality

Chronic granulomatous disease (CGD) is a primary immune deficiency due to defects in phagocyte respiratory burst leading to severe and life-threatening infections. Patients with CGD also suffer from disorders of inflammation and immune dysregulation including colitis and granulomatous lung disease, among others. Additionally, patients with CGD may be at increased risk of systemic inflammatory disorders such as hemophagocytic lymphohistiocytosis (HLH). The presentation of HLH often overlaps with symptoms of systemic inflammatory response syndrome (SIRS) or sepsis and therefore can be difficult to identify, especially in patients with a primary immune deficiency in which incidence of infection is increased. Thorough evaluation and empiric treatment for bacterial and fungal infections is necessary as HLH in CGD is almost always secondary to infection. Simultaneous treatment of infection with anti-microbials and inflammation with immunosuppression may be needed to blunt the hyperinflammatory response in secondary HLH. Herein, we present a series of X-linked CGD patients who developed HLH secondary to or with concurrent disseminated CGD-related infection. In two patients, CGD was a known diagnosis prior to development of HLH and in the other two CGD was diagnosed as part of the evaluation for HLH. Concurrent infection and HLH were fatal in three; one case was successfully treated, ultimately receiving hematopoietic stem cell transplantation. The current literature on presentation, diagnosis, and treatment of HLH in CGD is reviewed.
Current trends of high-risk gene Cul3 in neurodevelopmental disorders
Authors: Ping Lin, Jie Yang, Shumin Wu, Tong Ye, Wenting Zhuang, Wei Wang, Tao Tan
Journal: Front Psychiatry (2023)
Keywords: cul3, cullin3-ring e3 ubiquitin ligases, autism spectrum disorder (asd), knockout (ko) mice, neurodevelopmental disorders (ndds)
MeSH terms: Review

Cul3 encodes Cullin-3, a core component of the ubiquitin E3 ligase that is involved in protein ubiquitination. Recent studies have identified Cul3 as a high-confidence risk gene in neurodevelopmental disorders (NDDs), especially autism spectrum disorder (ASD). Different strategies have been used to generate animal models with Cul3 deficiency in the central nervous system, including whole-brain knockout (KO), cell-type specific conditional KO (cKO), and brain region-specific knockdown. In this review, we revisited the basic properties of CUL3 and its function under physiological and pathological conditions. Recent clinical studies including case reports and large cohort sequencing studies related to CUl3 in NDDs have been summarized. Moreover, we characterized the behavioral, electrophysiological, and molecular changes in newly developed Cul3 deficiency models. This would guide further studies related to Cul3 in CNS and provide potential therapeutic targets for Cul3-deficiency-induced NDDs, including ASD.
A Case Report of Non-Bacterial Cystitis Caused by Immune Checkpoint Inhibitors
Authors: Sihui Zhu, Lijuan Bian, Jia Lv, Baorui Liu, Jie Shen
Journal: Front Immunol (2021)
Keywords: cystitis, immune-related adverse events, intrahepatic cholangiocarcinoma, programmed cell death-ligand 1 antibody, programmed death-1 antibody
MeSH terms: Antibodies, Monoclonal, Humanized / adverse effects, Bile Duct Neoplasms / drug therapy, Cholangiocarcinoma / drug therapy, Cystitis / chemically induced, Immune Checkpoint Inhibitors / adverse effects, Nivolumab / adverse effects, Case Reports, Research Support, Non-U.S. Gov't, B7-H1 Antigen / antagonists & inhibitors, B7-H1 Antigen / immunology, Bile Duct Neoplasms / immunology, Cholangiocarcinoma / immunology, Cystitis / diagnosis, Cystitis / drug therapy, Cystitis / immunology, Humans, Male, Middle Aged, Programmed Cell Death 1 Receptor / antagonists & inhibitors, Programmed Cell Death 1 Receptor / immunology, Steroids / therapeutic use, Treatment Outcome, Antibodies, Monoclonal, Humanized, B7-H1 Antigen, CD274 protein, human, Immune Checkpoint Inhibitors, PDCD1 protein, human, Programmed Cell Death 1 Receptor, Steroids, Nivolumab, atezolizumab

We report a case of non-bacterial cystitis after treatment with programmed death-1 (PD-1) and programmed cell death-ligand 1 (PD-L1) antibodies, which was considered an immune-related adverse event (irAE). A 48-year-old male patient with intrahepatic cholangiocarcinoma (ICC) was treated with nivolumab after postoperative multi-line treatment. This patient recurred worsening of psoriasis and repeated urinary tract discomfort. The drug was discontinued and surgery was performed due to the recurrence of the tumor suggested by imaging. After receiving three cycles of chemotherapy treatment combined with atezolizumab, urinary tract discomfort reappeared. No bacteria were found in multiple urine cultures, and non-bacterial bladder inflammation was considered after cystoscopy biopsy. This is a report of non-bacterial inflammation of the urinary tract caused by immunotherapy.
Right-sided aortic arch with aberrant left subclavian artery diagnosed in an infant with regurgitation
Authors: Farid Imanzadeh, Amirhossein Hosseini, Mahsa Rashid, Ali Taher Ghasemi, Fatemeh Salahshouri, Fariba Fariba, Parin Yazdanifard
Journal: Gastroenterol Hepatol Bed Bench (2022)
Keywords: aortic arch, infant, regurgitation
MeSH terms: Case Reports

Right-sided aortic arch with aberrant left subclavian artery is a rare congenital anomaly of the aorta that occurs in less than 0.1% of the population. Patients are asymptomatic in most cases, and the anomaly is found incidentally; however, symptoms can occur due to the compression of other structures, mostly the trachea and esophagus. In this report, we present a case of esophageal compression by a right-sided aortic arch with aberrant left subclavian artery that mimicked gastro-esophageal reflux in a 3-month-old (87-day-old) infant with complaint of regurgitation, vomiting, and failure to gain weight who was diagnosed through a barium meal study.
Coagulation in chronic liver disease and the use of prothrombin complex concentrate for an emergent procedure: a case report and review of literature
Authors: Matthew Laubham, Eric Kallwitz
Journal: J Community Hosp Intern Med Perspect (2018)
Keywords: 4-factor prothrombin complex concentrate (4f-pcc) (kcentra), cirrhosis, coagulopathy, prothrombin time/ international normalized ratio (inr)
MeSH terms: Case Reports

Synthetic dysfunction observed in cirrhosis results in altered production of procoagulants and anticoagulants that can lead to both bleeding and thrombotic events, respectively. In patients with decompensated cirrhosis, frequent hospital visits often require bedside procedures such as diagnostic paracenteses, thoracenteses and endoscopy. It can be difficult to determine at what coagulation threshold procedures can safely be performed. Currently, the most common therapies given pre-procedurally include fresh frozen plasma (FFP) and vitamin K. The effectiveness of these treatments is estimated by international normalized ratio (INR), an imprecise measure of coagulation in the setting of cirrhosis. Transfusion with FFP may lead to detrimental side effects, including worsening volume overload and increased portal hypertension. We present a case of a 60-year-old patient intubated for acute hypoxic respiratory failure secondary to volume overload who subsequently developed bilateral pneumothoraces, requiring immediate chest tube placement. In this case, the patient had ongoing hepatic decompensation with volume overload and acute worsening of coagulopathy with an INR of 4.2. In this setting, 4-Factor Prothrombin Complex Concentrate (4F-PCC) was chosen to correct coagulation parameters with a low infusion volume. One hour following administration, INR was 1.5. Chest tubes were placed bilaterally and oxygenation improved without bleeding complications. While the data is still lacking, 4F-PCC may be considered for urgent and emergency situations in cirrhotic patients.
Stenotrophomonas maltophilia Necrotizing Soft Tissue Infection in an Immunocompromised Patient
Authors: Oleg Stens, Gabriel Wardi, Matthew Kinney, Stephanie Shin, Demosthenes Papamatheakis
Journal: Case Rep Crit Care (2018)
MeSH terms: Case Reports

Introduction:
To report on the first recorded case of necrotizing soft tissue infection (NSTI) in an immunocompromised individual caused by Stenotrophomonas maltophilia in the Western Hemisphere and highlight the challenges that medical providers face in promptly diagnosing and treating NSTI in this highly vulnerable patient population.
Case presentation:
We report a case of NSTI caused by S. maltophilia in a neutropenic patient admitted for treatment of acute lymphoblastic leukemia. The patient presented with laboratory and clinical findings atypical for a NSTI that may have confounded its diagnosis and delayed surgical intervention. Despite aggressive medical care and surgical debridement, the patient unfortunately passed away due to overwhelming septic shock.
Conclusions:
Providers should consider atypical organisms as causative in NSTI in immunocompromised patients and recognize that these patients may present without classic clinical and laboratory findings.
Renal angiomyolipoma with renal vein thrombosis: an incidental finding
Authors: Elisa Melo Abreu, Teresa Margarida Cunha
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

A 66-year-old female with history of endometrioid endometrial carcinoma was admitted to our institution with abdominal and pelvic pain. A CT scan revealed a mass within the right upper kidney with a tumour thrombus that extended through the right renal vein up to the point of confluence with the inferior vena cava (IVC). The imaging features of the mass strongly suggested a diagnosis of renal angiomyolipoma (AML) with renal vein thrombosis. The patient was proposed an open radical right nephrectomy with right renal thrombectomy for histopathological confirmation of the diagnosis of AML with extension to the right renal vein and preventing complications such as potentially fatal pulmonary thromboembolism. The implantation of a temporary IVC filter before surgery was recommended.
Trochanteric fracture following hip arthrodesis: case presentation
Authors: Bogdan Deleanu, Radu Prejbeanu, Dinu Vermesan, Horia Haragus, Lucian Honcea, Mihail-Lazar Mioc, Eleftherios Tsiridis, Vlad Predescu
Journal: Clin Case Rep (2017)
Keywords: ankylosis, arthrodesis, plate, trochanteric
MeSH terms: Case Reports

Even if the intertrochanteric fracture under an arthrodesis hip is rare and the optimal surgical treatment is controversial, we consider that treating this kind of fracture with a locked plate was a success.
Propafenone-Induced QRS Widening in a Child With Arrhythmogenic Right Ventricular Cardiomyopathy: A Case Report and Literatures Review
Authors: Yan-Qiu Chu, Ce Wang, Xue-Mei Li, Hong Wang
Journal: Front Pediatr (2020)
Keywords: qrs widen, arrhythmogenic right ventricular cardiomyopathy (arvc), implantable cardioverter defibrillator, propafenone, sotalol, sudden cardiac death
MeSH terms: Case Reports

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare cardiac disease in children, and can lead to sudden cardiac death (SCD). Propafenone is classIC antiarrhythmic medication, and its side effects include cardiovascular compromise in the form of hypotension, bradycardia, ventricular dysrhythmias, QRS widening, and heart block. Propafenone has been reported causing QRS widening, but rarely in children. In this article, we presented a boy diagnosed with ARVC who meets diagnosis criteria based on typical symptoms, electrocardiograph (ECG), echocardiography (Echo), cardiac magnetic resonance imaging (CMRI), sudden death of first family member, and genetic mutation in desmosomal DSG2 gene. Antiarrhythmic drugs have been used for treating patients with ARVC, by eliminating or decreasing the occurring frequency of arrhythmias. As his ECG showed frequent premature ventricular contractions (PVC), he was prescribed with oral propafenone. One day after the drug treatment, he presented dizziness accompanied with significant QRS widening in ECG. His dizziness was improved when Propafenone dose was reduced, and resolved after sotalol replacement, with ECG recovered to nearly normal state of QRS. Propafenone may lead to QRS widening and increase the risk of ventricular tachycardia, and it may not reduce ARVC associated mortality. This report may serve as a precaution for clinicians when providing cares for ARVC patients.
Mauriac syndrome in a child with a positive antinuclear antibody screen
Authors: John F Pohl
Journal: Gastroenterol Res Pract (2009)
MeSH terms: Case Reports

A 17-year-old male with type 1 diabetes mellitus (T1DM) presented to clinic with elevated transaminases and a positive antinuclear antibody (ANA) screen. Due to concern for autoimmune hepatitis, a liver biopsy was performed which revealed Mauriac syndrome. This case report is the second known description of a child with Mauriac syndrome presenting with positive autoimmune markers.
Successful Use of Negative Pressure Wound Therapy for Abdominal Wall Necrosis Caused by a Perforated Ascending Colon Using the ABThera System
Authors: Kouki Imaoka, Takuya Yano, Yasuhiro Choda, Ko Oshita, Yuma Tani, Tetsushi Kubota, Michihiro Ishida, Daisuke Satoh, Masanori Yoshimitsu, Kanyu Nakano, Masao Harano, Hiroyoshi Matsukawa, Hitoshi Idani, Shigehiro Shiozaki, Masazumi Okajima
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Background:
The practice of leaving the abdomen open after an emergency laparotomy has gained increasing popularity recently. Negative pressure wound therapy (NPWT) is known as an effective technique in the management of an open abdomen (OA). A new device, the ABThera™ Open Abdomen Negative Pressure Therapy System (KCI USA, San Antonio, TX, USA), was specifically designed to achieve a temporary abdominal closure (TAC) in the management of an OA. This study was aimed at presenting a successful experience of treating a case of abdominal wall necrosis caused by a perforated ascending colon using the ABThera System. Case Presentation. A 66-year-old man was admitted to our hospital with complaints of severe pain in the abdomen. On admission, abdominal contrast-enhanced computed tomography (CT) showed fluid collection, an air pocket in the subcutaneous fat layer of the abdominal wall, and edematous changes in the adipose tissue in the peritoneum and abdominal wall. Based on a diagnosis of peritonitis resulting from a perforated ascending colon, emergency surgery was performed. A right hemicolectomy, ileostomy construction, and debridement of the necrotic tissues were performed. However, necrotizing fasciitis rapidly spread; therefore, more necrotic tissue was debrided in a second operation. The abdominal wall defect was left open, and the ABThera System was used in the management of the OA; this device promoted wound healing. A reduction was observed in the size of the open wound with visible granulation tissue. The defect was finally covered with a mesh split-thickness skin graft and anterolateral thigh flap.
Conclusions:
In the management of a case of a massive wound with infection, it can be of great benefit to treat the wound with NPWT initially to decrease its size. The ABThera System could facilitate early and safe management of an OA by surgeons.
Severe tracheobronchomalacia after prolonged intubation of multitrauma patient
Authors: V G Sams, C M Lawson, A B Shibli, D A Taylor, P R Branca
Journal: Case Rep Surg (2011)
MeSH terms: Case Reports

Tracheobronchomalacia is a condition with significant morbidity with many etiologies including iatrogenic ones and should be considered in critically ill ventilated trauma patients. We present a case of a multitrauma patient who had difficulty weaning from the ventilator after prolonged intubation followed by tracheostomy tube placement. We describe her presentation, diagnosis, and management provide and as well a discussion of the condition.
Case Report: Metastatic renal cell carcinoma to the thyroid- A rare encounter
Authors: Megan Shepherd, Justin Lohmann, Laurentia Nodit, Tanaz Vaghaiwalla, Matthew Mancini
Journal: Front Surg (2022)
Keywords: cancer, endocrinology, metastatic rcc, oncology, thyroid
MeSH terms: Case Reports

Background:
Renal cell carcinoma (RCC) accounts for approximately 4% of new adult cancers. By fine needle aspiration, identification of metastatic RCC to thyroid is challenging; therefore, surgical resection is indicated for definitive characterization. Our report surveys metastatic RCC to thyroid in our hospital.
Methods:
Twenty years retrospective review of electronic records in our institution identified five patients with metastatic renal cell carcinoma to the thyroid. We analyzed patient charts and pathology reports to evaluate clinical parameters and therapy.
Results:
In all cases, the original RCC was of clear cell type. Pathologic tumor stage ranged from pT1a to pT3a, Fuhrman nuclear grade varied from 2 to 4 and angiolymphatic invasion was noted in one case. In three patients, RCC in the thyroid occurred as an oligometastasis with no evidence of disease in the nephrectomy bed or other parts of the body. In two patients, concomitant recurrent RCC and metastases to liver, lung, brain and chest wall were documented. The thyroid metastases were found approximately 10 years after completion of nephrectomy with a range of 0-21 years. Three thyroid fine needle aspirations correctly identified the disease, one was negative, and one was classified as atypical cells present, suspicious for RCC.
Conclusion:
The thyroid gland is an uncommon location for RCC metastasis and can appear across a wide range of initial stages and grades of the disease. Thyroid metastases occurred as late as 21 years from the initial tumor resection. Increased awareness and a high index of suspicion are needed to detect metastasis, as they can be found in atypical locations and mimic primary disease.
Guillain-Barré syndrome associated with COVID-19 infection
Authors: Hussein Karim Manji, Upendo George, Namala Patrick Mkopi, Karim Premji Manji
Journal: Pan Afr Med J (2020)
Keywords: covid-19, gbs, guillain-barré, sars-cov-2, pediatrics
MeSH terms: COVID-19 / diagnosis, Guillain-Barre Syndrome / diagnosis, Pneumonia, Viral / diagnosis, SARS-CoV-2, Case Reports, COVID-19 / complications, Child, Fatal Outcome, Guillain-Barre Syndrome / complications, Humans, Male, Pneumonia, Viral / complications, Pneumonia, Viral / diagnostic imaging, Quadriplegia / etiology, Respiratory Distress Syndrome / etiology, Tanzania, Tomography, X-Ray Computed

We are reporting a case of Acute Post-Infectious Flaccid paralysis also commonly known as Guillain-Barré Syndrome (GBS) in a patient with confirmed COVID-19 infection. GBS often occurs following an infectious trigger which induces autoimmune reaction causing damage to peripheral nerves. So far, only 8 cases have been described in association with COVID-19. This is the first to be described in Tanzania in an African Child, and probably the first in the continent. This report is presented for clinicians to be aware and for the medical fraternity to look into this unusual presentation which may shed some more light on possible pathways of the pathogenesis and clinical manifestations. We recommend that the presentation of GBS with acute respiratory distress should warrant extra precaution and a testing for COVID-19 especially when the symptoms of COVID-19 are protean.
Dermatofibrosarcoma protuberans in a child: a case report
Authors: Prashant Goyal, Shelly Sehgal, Sompal Singh, Shalabh Rastogi
Journal: Case Rep Dermatol Med (2012)

Background. Dermatofibrosarcoma protuberans (DFSP) is an intermediate grade soft tissue neoplasm originating from the dermal layer of the skin. It usually occurs in adults; however, it can rarely be seen in infancy and childhood. Diagnosis of DFSP in children is quite difficult-given-rarity of this lesion, its variegated appearance, and its presentation sometimes at unusual sites. Case. We present the case of five-year-old boy who came with painless lesion on a forehead. Fine needle aspiration cytology (FNAC) suggested possibility of mesenchymal neoplasm. Patient was advised excision biopsy. Final diagnosis of DFSP was made based on histopathological findings. The patient was then advised reexcision surgery with wide margins. The patient was lost to followup and later turned up after two months with recurrence of a similar swelling at the same site. Conclusion. DFSP in children is rare and difficult to diagnose. Treatment of childhood DFSP is often delayed leading to incomplete excision. Hence, there is need to recognize and appropriately manage this uncommon childhood neoplasm.
Erosive Arthritis, Fibromatosis, and Keloids: A Rare Dermatoarthropathy
Authors: Fawad Aslam, Jonathan A Flug, Yousif Yonan, Shelley S Noland
Journal: Case Rep Rheumatol (2018)
MeSH terms: Case Reports

Polyfibromatosis is a rare disease characterized by fibrosis manifesting in different locations. It is commonly characterized by palmar fibromatosis (Dupuytren's contracture) in variable combinations with plantar fibromatosis (Ledderhose's disease), penile fibromatosis (Peyronie's disease), knuckle pads, and keloids. There are only three reported cases of polyfibromatosis and keloids with erosive arthritis. We report one such case and review the existing literature on this rare syndrome.
A diagnosis of late-onset Myasthenia gravis unmasked by topical antibiotics
Authors: Nooreen Hussain, Faiz Hussain, Danish Haque, Subramanyam Chittivelu
Journal: J Community Hosp Intern Med Perspect (2018)
Keywords: myasthenia gravis, aminoglycosides, antibiotics, eye drops, neuromuscular, tobramycin
MeSH terms: Case Reports

Myasthenia Gravis (MG) is a disorder of the neuromuscular junction (NMJ) that manifests as fluctuating fatiguable weakness of the muscles. There are many factors that can exacerbate myasthenia symptoms including a variety medications and drugs, systemic illness, and pregnancy. A number of medications have been implicated in exacerbating MG symptoms, including aminoglycosides. We present a case of an elderly female with newly diagnosed MG following the use of tobramycin eye drops for 3 days. There have been limited reports in the literature of topical medications that exacerbate MG symptoms. Clinicians prescribing tobramycin eye drops (or other associated medications) should have a high index of suspicion of MG as early discontinuation and therapy will limit long-term morbidity and mortality in these patients.