OpenMed/multicare-articles huggingface dataset:
Chronic granulomatous disease and McLeod syndrome: Stem cell transplant and transfusion support in a 2-year-old patient-a case report
Authors: Louise Helander, Chris McKinney, Kathleen Kelly, Samantha Mack, Mary Sanders, Janice Gurley, Larry J Dumont, Kyle Annen
Journal: Front Immunol (2022)
Keywords: mcleod, allogeneic stem cell transplant, case report, chronic granulomatous disease, pediatrics, transfusion
MeSH terms: Granulomatous Disease, Chronic / genetics, Granulomatous Disease, Chronic / therapy, Hematopoietic Stem Cell Transplantation / methods, Neuroacanthocytosis, Case Reports, Child, Child, Preschool, Humans, Male, Treatment Outcome, Neuroacanthocytosis, Mcleod Type

Chronic granulomatous disease (CGD) with McLeod neuroacanthocytosis syndrome (MLS) is a contiguous gene deletion disorder characterized by defective phagocytic function and decreased Kell antigen expression. CGD cure is achieved through hematopoietic stem cell transplant (HSCT) usually in the peri-pubescent years. The presence of MLS makes peri-transfusion support complex, however. Herein, we present the youngest known case of HSCT for CGD in the setting of MLS. A 2-year-old male patient was diagnosed with CGD plus MLS. Due to the severity of the child's systemic fungal infection at diagnosis, HSCT was deemed the best treatment option despite his small size and age. A related, matched donor was available, and a unique red blood cell support plan had been implemented. Reduced-intensity conditioning was used to reduce the transplant-related mortality risk associated with myeloablative protocols. The transplant course was uneventful; autologous red blood cell (RBC) transfusion support was successful and allowed for the avoidance of possible antibody formation if allogeneic units had been used. The patient achieved 1-year relapse-free survival. The developed protocols provide a viable path to transplant in the very young, and early transplant to cure could reduce disease-related morbidity.
Successful Percutaneous Nephrolithotomy in Patients with Immune-Mediated Thrombocytopenia Treated with Romiplostim
Authors: Andrew N McCall, Johann P Ingimarsson, Griffin T Morrisson, Christopher C Hook, Amy E Krambeck
Journal: J Endourol Case Rep (2016)
MeSH terms: Case Reports

Background:
Percutaneous nephrolithotomy (PCNL) for large stone burden can be problematic in patients with significant risk of bleeding complications, specifically thrombocytopenia. This report demonstrates effective correction of two patients' thrombocytopenia, subsequently leading to removal of large stone burden through PCNL.
Case presentation:
We present two Middle Eastern patients who presented with medical histories significant for thrombocytopenia, secondary to splenomegaly and hepatic vein thrombosis, and large volume nephrolithiasis. Patient 1 is a 65-year-old female with a right 5 cm stone and a platelet count of 34,000. Patient 2 is a 45-year-old female with a 3 cm left staghorn stone and a platelet count of 44,000. After consultation with hematology, both underwent therapy with prednisone and intravenous immunoglobulin without improvement in their platelet count. They then received 3 μg/kg/dose of romiplostim weekly that improved their platelet counts to 133,000 and 195,000 in 2 weeks, respectively. Patient 1's PCNL was completed in a single-stage procedure with stone-free status shown on CT postoperative day 1. Patient 2 underwent PCNL and a secondary ureteroscopy for residual stone fragments on postoperative day 2. Both patients experienced no complication during the procedure, hospital stay, or postoperative course. Both continued romiplostim for 20 days postoperatively with platelet levels returning to their baseline range after 1 month.
Conclusion:
In the appropriately selected patient, romiplostim can correct thrombocytopenia enough to safely and effectively perform PCNL in patients with underlying hematologic disorders. Close coordination between urology and hematology is imperative to ensure an effective outcome in this challenging patient population.
Successful Use of Renal Replacement Therapy for Refractory Hypokalemia in a Diabetic Ketoacidosis Patient
Authors: Zainab Syed, Thomas Kimball, Mourad Ismail
Journal: Case Rep Crit Care (2019)
MeSH terms: Case Reports

A 39-year-old African-American female presented to the emergency department with a seven-day history of right upper quadrant abdominal pain accompanied by nausea, vomiting, and diarrhea. She was noted to be alert and following commands, but tachypneic with Kussmaul respirations; and initial laboratory testing supported a diagnosis of diabetic ketoacidosis (DKA) and hypokalemia. To avoid hypokalemia-induced arrhythmias, insulin administration was withheld until a serum potassium (K) level of 3.3 mEq/L could be achieved. Efforts to increase the patient's potassium level via intravenous repletion were ineffectual; hence, an attempt was made at more aggressive potassium repletion via hemodialysis using a 4 mEq/L K dialysate bath. The patient was started on Aldactone and continuous veno-venous hemodialysis (CVVH) with ongoing low-dose insulin infusion. This regimen was continued over 24 h resulting in normalization of the patient's potassium levels, resolution of acidosis, and improvement in mental status. Upon resolution of her acidemia, the patient was transitioned from insulin infusion to treatment with a subcutaneous insulin aspart and insulin detemir, and did not experience further hypokalemia. Considering our success, we propose CVVH as a tool for potassium repletion when aggressive intravenous (IV) repletion has failed.
Persistent STAG2 mutation despite multimodal therapy in recurrent pediatric glioblastoma
Authors: Christopher S Hong, Juan C Vasquez, Adam J Kundishora, Aladine A Elsamadicy, Jason M Beckta, Amrita Sule, Asher M Marks, Nalin Leelatian, Anita Huttner, Ranjit S Bindra, Michael L DiLuna, Kristopher T Kahle, E Zeynep Erson-Omay
Journal: NPJ Genom Med (2020)
Keywords: cancer genetics, genetics research
MeSH terms: Case Reports

Similar to their adult counterparts, the prognosis for pediatric patients with high-grade gliomas remains poor. At time of recurrence, treatment options are limited and remain without consensus. This report describes the genetic findings, obtained from whole-exome sequencing of a pediatric patient with glioblastoma who underwent multiple surgical resections and treatment with standard chemoradiation, as well as a novel recombinant poliovirus vaccine therapy. Strikingly, despite the variety of treatments, there was persistence of a tumor clone, characterized by a deleterious STAG2 mutation, whose deficiency in preclinical studies can cause aneuploidy and aberrant mitotic progression, but remains understudied in the clinical setting. There was near elimination of an EGFR mutated and amplified tumor clone after gross total resection, standard chemoradiation, and poliovirus therapy, followed by the emergence of a persistently STAG2 mutated clone, with rare mutations in PTPN11 and BRAF, the latter composed of a novel deleterious mutation previously not reported in pediatric glioblastoma (p.D594G). This was accompanied by a mutation signature shift towards one characterized by increased DNA damage repair defects, consistent with the known underlying STAG2 deficiency. As such, this case represents a novel report following the clinical and genetic progression of a STAG2 mutated glioblastoma, including treatment with a novel and emerging immunotherapy. Although STAG2 deficiency comprises only a small subset of gliomas, this case adds clinical evidence to existing preclinical data supporting a role for STAG2 mutations in gliomagenesis and resistance to standard therapies.
Idiopathic pulmonary hemosiderosis in adults: a case report and review of the literature
Authors: Argyris Tzouvelekis, Paschalis Ntolios, Anastasia Oikonomou, Anastasios Koutsopoulos, Efthimios Sivridis, George Zacharis, Kostantinos Kaltsas, Panagiotis Boglou, Dimitrios Mikroulis, Demosthenes Bouros
Journal: Case Rep Med (2012)

Idiopathic pulmonary hemosiderosis is a very rare condition rarely affecting adults and causing recurrent episodes of diffuse alveolar haemorrhage that may lead to lung fibrosis. Due to lack of pathognomonic findings, IPH diagnosis is established upon exclusion of all other possible causes of DAH in combination with specific pathologic findings revealing bland alveolar haemorrhage with absence of vasculitis and/or accumulation of immune complexes within lung parenchyma. Here we describe a rare case of idiopathic pulmonary hemosiderosis in an otherwise healthy 27-year-old Greek male patient with relapsing episodes of fever accompanied by general fatigue and discomfort. He was at this time point a light smoker and had been hospitalised once in the past for similar symptoms. His iron deficiency anemia coupled with chest high-resolution computed tomography and bronchoalveolar lavage revealed findings compatible with diffuse alveolar hemorrhage. After excluding all other sources of bleeding through extensive gastrointestinal workup and thorough immunologic profile, video-assisted thoracic lung biopsy was performed and the diagnosis of Idiopathic Pulmonary Hemosiderosis was established. Patient was treated with high doses of oral corticosteroids, leading to clinical response. We highlight the need for vigilance by the respiratory physician for the presence of DAH, a challenging, acute condition requiring early recognition along with identification of the underlying syndrome and appropriate treatment to achieve optimal results.
A Case of Bacteremia and Meningitis Associated with Piperacillin-Tazobactam Nonsusceptible, Ceftriaxone Susceptible Escherichia coli during Strongyloides Hyperinfection in an Immunocompromised Host
Authors: Santosh Dahal, Jeffrey Lederman, Jesse Berman, Marius Viseroi, Stephen Jesmajian
Journal: Case Rep Infect Dis (2017)
MeSH terms: Case Reports

Strongyloidiasis is an emerging parasitic infection with intriguing epidemiology, presentation, and clinical management. We report a case of hyperinfection syndrome complicated by E. coli bacteremia and meningitis with one of the isolates showing a unique resistance pattern recently being recognized. This report describes the aspect of invasive bacterial infections in strongyloidiasis and highlights the unique susceptibility pattern of the E. coli isolate and the extreme caution required during the antibiotic therapy.
Clear cell sarcoma of the jejunum: a case report
Authors: Konstantinos Lasithiotakis, Alexandros Protonotarios, Vasiliki Lazarou, Maria Tzardi, George Chalkiadakis
Journal: World J Surg Oncol (2013)
MeSH terms: Epithelioid Cells / pathology, Intestine, Small / pathology, Jejunal Neoplasms / pathology, Sarcoma, Clear Cell / pathology, Case Reports, Female, Humans, Intestine, Small / surgery, Jejunal Neoplasms / surgery, Middle Aged, Prognosis, Sarcoma, Clear Cell / surgery, Tomography, X-Ray Computed

Background:
Clear cell sarcoma (CCS), also known as malignant melanoma of soft parts, is a rare type of soft tissue sarcoma which exhibits morphological, immunohistochemical and ultrastructural similarity with malignant melanoma. It is rarely localized in the intestine and the natural history of this tumor is not yet clear.
Case report:
A 49-year-old woman presented with diffuse abdominal colicky pain and vomitus over the previous seven days. An X-ray of the abdomen revealed obstruction of the small intestine. The patient underwent contrast enhanced abdominal computerized tomography (CT), which confirmed the obstruction at the jejunum and an associated circumferential wall thickening extending about 3 cm in length, causing concentric narrowing of the lumen. At laparotomy, a mass was recognized at the level of the jejunum in the small intestine, which caused almost complete obstruction of the lumen. At the point of obstruction, adhered loops of small intestine were found. A segmental small bowel resection was performed with 5 cm clear margins and its respective mesenteric lymph nodes.
Results:
Histological examination of the specimen revealed a tumor (3×3×2 cm) with epithelioid cell characteristics and eosinophilic or clear cytoplasm and focal translucent nuclei. Immunohistochemistry was positive for S100, epithelial membrane antigen (EMA) and synaptophysin. The tumor was pankeratin AE1/AE2, GFAP, HMB45 and MART-1/Melan-A negative. Twelve lymph nodes were retrieved and were free of neoplastic infiltration. Cytogenetic examination revealed translocation of the EWSR1 gene. The patient had an uncomplicated postoperative course and left the hospital seven days after her admission in good general condition. After 20 months of follow-up the patient remains asymptomatic without any clinical or radiological evidence of recurrence.
Conclusion:
CCS sarcoma can be rarely localized in the jejunum. Due to its morphological similarity to malignant melanoma, cytogenetic examination is necessary for its diagnosis. Wide resection of the tumor and its respective lymph nodes was associated with a 20-month disease free survival in this patient.
Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat
Authors: Juan Pablo Meza-Espinoza, Enrique Sáinz González, Christian J N León-León, Eliakym Arámbula-Meraz, José Alfredo Contreras-Gutiérrez, Noemí García-Magallanes, Jesús Madueña-Molina, Fred Luque-Ortega, Salvador Cervín-Serrano, Verónica Judith Picos-Cárdenas
Journal: Mol Cytogenet (2020)
Keywords: deletion 4q352-qter, duplication 2q34-qter, acgh, der(4)t(2, 4)(q34, q352)
MeSH terms: Case Reports

Background:
Concomitant trisomy 2q3 and monosomy 4q3 have been rarely reported. Pure trisomy 2q3 has been associated with microcephaly, hypertelorism, low-set ears, micrognathia, visceral abnormalities, and growth retardation. Monosomy 4q3 includes a wide variety of dysmorphic features such an abnormal skull shape, hypertelorism, Pierre Robin sequence, short nose with abnormal bridge, fifth finger clinodactyly, congenital heart, and genitourinary defects, in addition to intellectual disability, developmental delay, and hypotonia, but more distal deletions involving 4q34-qter may result in milder phenotypes. Here, we present a child with a mild dysmorphic syndrome, resulted of a duplication 2q34-qter and a deletion 4q35.2-qter inherited of his father.
Case presentation:
We report a child, who at birth presented hypotonia, dysmorphism, and bilateral cryptorchidism. At 2 years and 9 month of age he showed brachycephaly, narrow forehead, bilateral frontoparietal hypertrichosis, down slanting palpebral fissures, sparse eyebrows, sparse short eyelashes, hypertelorism, depressed nasal root, broad nasal bridge, bulbous nasal tip, prominent colummela, broad nasal ala, smooth filtrum, high arched palate, thin upper lips, and ears rotated backwards. He also showed telethelia, hypertrichosis from dorsal to the sacral region, hands with clinodactyly and hypoplasia of the terminal phalanx of the fifth finger, and broad thumbs, broad first toes, and right cryptorchidism. A chromosomal study revealed a karyotype 46,XY,der(4)t(2;4)(q34;q35.2), while an array comparative genomic hybridization showed a 31.12 Mb duplication of the chromosome 2q34-q37.3 and a 1.49 Mb deletion in the chromosome 4q35.2.
Conclusions:
To our knowledge, only four families with translocation t(2;4) have been reported, two of them involving t(2q;4q), but the breakpoints involved in our patient have not been previously observed. The genomic imbalance in this patient was a duplication of 318 genes of the region 2q34-q37.3 and a deletion of 7 genes of 4q35.2. We discuss difficulty to assign specific congenital abnormalities to these duplicated/deleted regions and include some cases with terminal deletions of 4q with normal or just mildly detectable phenotypic effects.
Unique Presentation and Management Approach of Pleural Solitary Fibrous Tumor
Authors: Tarek Aridi, Ayman Tawil, Mohamad Hashem, Joe Khoury, Roy A Raad, Pierre Youssef
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Solitary fibrous tumor (SFT) of the pleura is an uncommon tumor that is often discovered incidentally on a routine chest X-ray. We report a case of a young female with a large, sessile, hypervascularized SFT of the pleura presenting with cardiopulmonary shock to a rural hospital with limited therapeutic interventions. We propose, in this case report, a unique multidisciplinary approach for the management of such a critical patient and the safe resection of the tumor.
Successful switching from risperidone to cariprazine in a schizophrenic patient with pronounced functional deficit. Case report
Authors: Johan Sahlsten Schölin, José Rodriguez Cruz, Stephan Hjorth
Journal: Front Psychiatry (2023)
Keywords: cariprazine, case report, clozapine option, functional deficit, negative symptoms, risperidone, switching, treatment optimization
MeSH terms: Case Reports

A 22-year-old male was admitted to an in-patient psychiatric unit for treatment, after a period of 2 years of increasing psychotic symptoms corresponding to a very severe case of schizophrenia across the entire scale of symptom disorder domains along with some drug abuse comorbidity. Previous treatments with olanzapine (OLA) and risperidone (RIS) had been at best partly successful toward his positive symptoms with no, or even worsening effects on the negative symptomatology. Given the gravity of the latter symptoms and functional impairment of our patient, he might thus have been a candidate for clozapine (CLZ) treatment. It was however decided to switch his antipsychotic treatment to cariprazine (CAR), an agent with a novel pharmacological and clinical profile, because of its favorable pharmacodynamic, pharmacokinetic, and tolerability/safety properties. In a follow-up on the patient 6 months after discharge he is not fully recovered, but the recovery attained reflects a marked functional improvement compared to before the RIS-to-CAR switch. The remarkable response to CAR observed may, speculatively, be in line with the suggestion that CAR could offer an alternative, safer, and more tolerable monotherapy approach (vs. CLZ) for patients with severe negative symptoms and functional deficiency resistant to standard antipsychotic treatment. He appears to occasionally still be taking drugs, but no worsening of positive symptoms has been noted. Whether or not he could reach full recovery if he would abstain entirely from drugs of abuse remains an open question.
Chronic Skull Base Erosion from Temporomandibular Joint Disease Causes Generalized Seizure and Profound Lactic Acidosis
Authors: Mark A Dobish, David A Wyler, Christopher J Farrell, Hermandeep S Dhami, Victor M Romo, Daniel D Choi, Travis Reed, Michael E Mahla
Journal: Case Rep Crit Care (2018)
MeSH terms: Case Reports

This report displays a rare presentation of lactic acidosis in the setting of status epilepticus (SE). The differential diagnosis of lactic acidosis is broad and typically originates from states of shock; however, this report highlights an alternative and rare etiology, SE, due to chronic skull base erosion from temporomandibular joint (TMJ) disease. Lactic acidosis is defined by a pH below 7.35 in the setting of lactate values greater than 5 mmol/L. Two broad classifications of lactic acidosis exist: a type A lactic acidosis which stems from global or localized tissue hypoxia or a type B lactic acidosis which occurs once mitochondrial oxidative capacity is unable to match glucose metabolism. SE is an example of a type A lactic acidosis in which oxygen delivery is unable to meet increased cellular energy requirements. This report is consistent with a prior case series that consists of five patients experiencing generalized tonic-clonic (GTC) seizures and lactic acidosis. These patients presented with a pH range of 6.8-7.41 and lactate range of 3.8-22.4 mmol/L. Although severe lactic acidosis following GTC has been described, this is the first report in the literature of chronic skull base erosion from TMJ disease causing SE.
A study of the relationship between characteristic traits and Employee Engagement (A case study of nurses across Kermanshah, Iran in 2015)
Authors: A Ziapour, N Kianipour
Journal: J Med Life (2015)
Keywords: kermanshah, staff engagement, nurses, personality traits

Staff Engagement is an individual's interest and enthusiasm to accomplish the specified duties, all together with his sustained profession with organizations. Accordingly, the current research aimed to delve into the relationship between the characteristical traits and Staff Engag ement among nurses employed in Kermanshah-based hospitals in 2015. In this descriptive-correlational study, 322 nurses of public hospitals in Kermanshah were picked in 2015. For information gathering, Schaufeli & Bakker's Utrecht Staff Engagement scale and NEO Five-Factor Inventory (NEO-FFI) were used. Information was examined through descriptive analytics (Frequency, Rate, Average, and Standard Deviation) and inferential analytics (Pearson Correlation Test and Multiple Regression Analysis). Also, the 21st version of SPSS software was applied for information investigation. The results demonstrated that the greatest and smallest means of characteristical traits among nurses related to acceptance to experience (3.75 ± 0.63) and neuroticism (2.82 ± 0.55). Also, the highest and lowest means of Staff Engagement related to absorption (5.41 ± 0.76) and vigor (5.04 ± 0.86). Moreover, the outcomes of the Pearson correlation examination showed that there were important connections between the two dimensions of personality traits, i.e. neuroticism (P<0.001, r=0.172) and extraversion (P<0.001, r=0.038), and job engagement. Moreover, neuroticism had the most meaningful relationship with Staff Engagement (P<0.001, r=0.172). On the other hand, the outcomes of multiple regression analysis revealed that dutifulness and agreeableness were good predictors for job engagement. Given that the two scopes of personality traits, i.e. dutifulness and agreeableness, were closely related to work engagement, it was suggested that these dimensions were given a careful consideration in the event of employing workforce, especially nurses, with the aim of boosting the organizational productivity.