OpenMed/multicare-articles huggingface dataset:
Case Report: Sustained Remission Due to PD-1-Inhibition in a Metastatic Melanoma Patient With Depleted B Cells
Authors: Lena Margarethe Wulfken, Jürgen Christian Becker, Rami Hayajneh, Annette Doris Wagner, Katrin Schaper-Gerhardt, Nina Flatt, Imke Grimmelmann, Ralf Gutzmer
Journal: Front Immunol (2021)
Keywords: b cell depletion, cd20, case report, immune checkpoint blockade, melanoma
MeSH terms: B-Lymphocytes, Regulatory / immunology, Granulomatosis with Polyangiitis / drug therapy, Immune Checkpoint Inhibitors / therapeutic use, Melanoma / drug therapy, Nivolumab / therapeutic use, Programmed Cell Death 1 Receptor / metabolism, Skin Neoplasms / drug therapy, Case Reports, Research Support, Non-U.S. Gov't, Female, Humans, Interleukin-10 / metabolism, Lymphocyte Depletion, Middle Aged, Neoplasm Metastasis, Programmed Cell Death 1 Receptor / antagonists & inhibitors, Remission Induction, Rituximab / therapeutic use, Immune Checkpoint Inhibitors, Programmed Cell Death 1 Receptor, Interleukin-10, Nivolumab, Rituximab

Introduction:
Checkpoint-Inhibition (CPI) with PD-1- and PD-L1-inhibitors is a well-established therapy for advanced stage melanoma patients. CPI mainly acts via T-lymphocytes. However, recent literature suggests also a role for B cells modulating its efficacy and tolerability of CPI.
Case report:
We report a 48-year-old female patient with metastatic melanoma affecting brain, lung, skin and lymph nodes. A preexisting granulomatosis with polyangiitis was treated with rituximab over five years prior to the diagnosis of melanoma, resulting in a complete depletion of B cells both in peripheral blood as well as the tumor tissue. In the absence of the mutation of the proto-oncogene b-raf, treatment with the PD-1 inhibitor nivolumab was initiated. This therapy was well tolerated and resulted in a deep partial response, which is ongoing for 14+ months. Flow cytometric analysis of peripheral blood mononuclear cells revealed 15% IL-10 producing and 14% CD24 and CD38 double positive regulatory B cells.
Conclusion:
The exceptional clinical response to nivolumab monotherapy in our patient with depleted B cells sheds a new light on the relevance of B cells in the modulation of immune responses to melanoma. Obviously, B cells were not required for the efficacy of CPI in our patient. Moreover, the depletion of regulatory B cells may have improved efficacy of CPI.
Successful use of long acting octreotide in two cases with Beckwith-Wiedemann syndrome and severe hypoglycemia
Authors: Hiba Al-Zubeidi, Michael E Gottschalk, Ron S Newfield
Journal: Int J Pediatr Endocrinol (2014)
Keywords: beckwith-wiedemann syndrome, hyperinsulinism, hypoglycemia
MeSH terms: Case Reports

Introduction:
Hyperinsulinism associated with Beckwith-Wiedemann syndrome (BWS) can occur in about 50% of cases, causing hypoglycemia of variable severity. Parenteral use of octreotide may be indicated if unresponsive to diazoxide. There is limited data on use of octreotide in BWS.
Objective:
Chart review describing 2 cases with BWS and hypoglycemia treated with long acting Octreotide as a monthly injection.
Cases:
We describe two unrelated females born large for gestational age found to have clinical features consistent with BWS, who developed severe hypoglycemia. Genetic diagnosis of BWS was confirmed. The first patient was born at 37 weeks and developed hypoglycemia shortly after birth. She was initially started on diazoxide but developed pulmonary congestion and was therefore switched to depot octreotide (LAR). She maintained euglycemia with LAR. In the second patient (born at 26-4/7 weeks), onset of hypoglycemia was delayed till 11 weeks of age due to hydrocortisone (indicated hemodynamically) and continuous feeding, and was partially responsive to diazoxide. She was switched to octreotide 4 times daily, treated till at age 18 months. Despite frequent feeds, she required treatment again between ages 4-6.5 years, initially with diazoxide but due to severe hypertrichosis she was switched to LAR with an excellent response. Both patients treated with LAR for over two years achieved euglycemia above 70 mg/dl and had normal height gain, without side effects.
Conclusion:
Successful treatment of hypoglycemia can be achieved and maintained with LAR in infants and children with BWS who are either resistant or cannot tolerate diazoxide.
Methicillin-resistant staphylococcus aureus (MRSA) colonization among Intensive Care Unit (ICU) patients and health care workers at Muhimbili national hospital, Dar Es Salaam, Tanzania, 2012
Authors: Alfred Geofrey, Ahmed Abade, Said Aboud
Journal: Pan Afr Med J (2015)
Keywords: icu, mrsa, colonization, prevalence
MeSH terms: Carrier State / epidemiology, Health Personnel, Methicillin-Resistant Staphylococcus aureus / isolation & purification, Staphylococcal Infections / epidemiology, Adolescent, Adult, Anti-Bacterial Agents / pharmacology, Child, Child, Preschool, Cross-Sectional Studies, Female, Humans, Infant, Intensive Care Units, Logistic Models, Male, Methicillin-Resistant Staphylococcus aureus / drug effects, Microbial Sensitivity Tests, Middle Aged, Prevalence, Risk Factors, Staphylococcal Infections / microbiology, Tanzania / epidemiology, Young Adult, Anti-Bacterial Agents

Introduction:
Methicillin-resistant Staphylococcus aureus (MRSA) has been recognized as important nosocomial pathogens worldwide. S aureus may induce clinically manifested diseases, or the host may remain completely asymptomatic.
Methods:
A cross-sectional hospital-based study was conducted from October 2012 to March 2013 in two ICUs at MNH. Admitted patients and health care workers were enrolled in the study. Interviewer administered questionnaires; patient history forms, observation charts and case report forms were used to collect data. Swabs (nostrils, axillary or wounds) were collected. MRSA were screened and confirmed using cefoxitin, oxacillin discs and oxacillin screen agar. Antibiotic susceptibility was performed using Kirby-Bauer disk diffusion method. The risk factors for MRSA were determined using the logistic regression analysis and a p - value of <0.05 was considered as statistically significant.
Results:
Of the 169 patients and 47 health workers who were recruited, the mean age was 43.4 years ± SD 15.3 and 37.7 years ± (SD) 11.44 respectively. Among the patients male contributed 108 (63.9%) while in health worker majority 39(83%) were females. The prevalence of MRSA colonization among patients and health care workers was 11.83% and 2.1% respectively. All (21) MRSA isolates were highly resistant to penicillin and erythromycin, and 17 (85.7%) were highly sensitive to vancomycin. Being male (AOR 6.74, 95% CI 1.31-34.76), history of sickness in past year (AOR 4.89, 95% CI 1.82- 13.12), being sick for more 3 times (AOR 8.91, 95% CI 2.32-34.20), being diabetic (AOR 4.87, 95% CI 1.55-15.36) and illicit drug use (AOR 10.18, 95%CI 1.36-76.52) were found to be independently associated with MRSA colonization.
Conclusion:
A study identified a high prevalence of MRSA colonization among patients admitted in the ICU. MRSA isolates were highly resistant to penicillin and erythromycin. History of illegal drug use was highly associated with MRSA colonization.
Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities
Authors: Yuan-Yuan Zhou, Yu-Fang Du, Qing Lu, Xiu-Zhang Zhai, Ming-Fang Shi, Dan-Yun Chen, Sun-Rong Liu, Ying Zhong
Journal: Front Genet (2022)
Keywords: chst14, ehlers–danlos syndrome, prenatal diagnosis, structural abnormalities, whole-exome sequencing
MeSH terms: Case Reports

Background: Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a rare heritable connective tissue disease with various symptoms. The diagnosis of mcEDS is difficult because of the large overlap of clinical symptoms between different EDS subtypes. Methods: We performed karyotype analysis, gene copy number variation detection, whole-exome sequencing, and Sanger sequencing to reveal the underlying genetic etiology of a fetus with structural abnormalities in feet and kidneys. Results: A likely pathogenic mutation [NM_130468.3 c.958C>T (p.Arg320*)] and an uncertain significance mutation [NM_130468.3 c.896A>G (p.Tyr299Cys)] were identified in the carbohydrate sulfotransferase 14 (CHST14) gene by whole-exome sequencing and validated by Sanger sequencing. Conclusion: The two identified mutations appear highly likely to be the genetic causes of the fetal structural abnormalities.
Constitutional growth delay pattern of growth in velo-cardio-facial syndrome: longitudinal follow up and final height of two cases
Authors: Serap Turan, Nihal Ozdemir, Tülay Güran, Figen Akalın, Teoman Akçay, Canan Ayabakan, Yüksel Yılmaz, Abdullah Bereket
Journal: J Clin Res Pediatr Endocrinol (2008)
Keywords: 22q112, growth hormone deficiency, velo−cardio−facial syndrome, growth, normal genotype, short stature
MeSH terms: DiGeorge Syndrome / complications, Growth Disorders / etiology, Case Reports, Adolescent, Body Height, Child, DiGeorge Syndrome / physiopathology, Female, Follow-Up Studies, Growth Disorders / physiopathology, Humans

We report two patients with velo-cardio-facial syndrome (VCFS) who were admitted to our pediatric endocrinology clinic because of short stature and followed longitudinally until attainment of final height. Both patients followed a growth pattern consistent with constitutional delay of puberty with normal and near normal final height. Case 2 also had partial growth hormone (GH) deficiency and severe short stature (height SDS -3.4 SDS), but showed spontaneous catch-up and ended up with a final height of -2 SDS. These cases suggest that short stature in children with VCFS is due to a pattern of growth similar to that observed in constitutional delay of growth and puberty.
Case Report: Early Onset Systemic Lupus Erythematosus Due to Hereditary C1q Deficiency Treated With Fresh Frozen Plasma
Authors: Milica Zecevic, Aleksandra Minic, Srdjan Pasic, Vladimir Perovic, Zoltán Prohászka
Journal: Front Pediatr (2021)
Keywords: c1q deficiency, early-onset autoimmunity, fresh frozen plasma, lupus erythematosus, lupus skin involvement
MeSH terms: Case Reports

Background: Hereditary C1q deficiency is associated with early-onset autoimmunity causing SLE or SLE-like disease as well as increased risk for infections with encapsulated bacteria. It is a rare genetic condition inherited in an autosomal recessive manner, caused by mutations in C1q genes. Treatment and management of this rare disease are very complex and include prophylactic vaccination, antibiotics, and immunosuppressive drugs. There are two possible modalities for the replacement of the missing protein: regular fresh frozen plasma (FFP) administration and allogeneic hematopoietic stem cell transplant because the protein is derived from monocytes. Replacing C1q with FFP is being attempted in some patients with success in controlling the disease and in avoiding flare. Case Report: We report a case of sixteen-month-old girl with ulcerations in her mouth, skin erythema, and elevated liver enzymes. ANAs were positive, antibodies against dsDNA were negative, but she had positive anti-Smith antibodies. Complement complements C3 and C4 levels were normal. Total complement activity, classical pathway (hemolytic test) was deficient and C1q antigen was below the detection limit supporting the presence of C1q deficiency. The girl has pathogenic homozygous nonsense mutation in C1qC gene, Arg69Ter (c205>T). The initial response to corticosteroid therapy was good. Regular fresh frozen plasma infusions keep her disease under control, and we were able to reduce the dose of corticosteroids. Conclusion: Young patients with cutaneous lesions resembling SLE, early onset of autoimmunity, with normal C3, C4, elevated ANAs, and negative anti-dsDNA, C1q deficiency should be suspected and complement screening tests should be done. It is important to exclude secondary C1q deficiency. FFP in our patient seems to be well tolerated, without any side effects, able to control the disease.
Intubation of a Patient with a Large Goiter: The Advantageous Role of Videolaryngoscopy
Authors: Eric Heinz, Theodore Quan, Hieu Nguyen, Raymond Pla
Journal: Case Rep Anesthesiol (2019)
MeSH terms: Case Reports

Fiberoptic bronchoscopy has long been considered the gold standard for patients who present with a difficult airway. In the case presented, a patient has a large palpable goiter and requires intubation. After the unsuccessful attempt to intubate with the use of fiberoptic bronchoscopy, the decision to switch to videolaryngoscopy afforded a positive result. We present this case to suggest that the utilization of videolaryngoscopy may be an alternative option for intubation when other methods have failed. It is imperative for anesthesiologists to understand the benefits that this modality may provide.
Diagnosis of GATA2 haplo-insufficiency in a young woman prompted by pancytopenia with deficiencies of B-cell and dendritic cell development
Authors: Allen Sanyi, David L Jaye, Cecilia B Rosand, Amanda Box, Chandrakasan Shanmuganathan, Edmund K Waller
Journal: Biomark Res (2018)
Keywords: allogeneic transplant, b-cell deficiency, bone marrow failure, gata2 deficiency
MeSH terms: Case Reports

Background:
GATA2 deficiency presents with a spectrum of phenotypes including increased susceptibility to viral and bacterial infections, multi-lineage cytopenias, aplastic anemia, leukemic transformation and lymphedema. Allogeneic transplantation is only curative therapy for GATA2 deficiency, but is associated with significant treatment related morbidity and mortality. Given the spectrum of clinical presentation, accurate diagnosis of GATA2 deficiency is necessary to identify patients early in their disease course when allogeneic bone marrow transplantation may be of clinical benefit.
Case presentation:
In this report, we present a GATA2 mutation diagnosed in 23-year-old woman presenting with pancytopenia, recurring oral blisters, fatigue and chronic pain. We describe markedly low levels of mature B-cells in the blood and bone marrow and the absence of detectable blood dendritic cells with normal serum immunoglobulin levels and normal numbers of marrow plasma cells. She was ultimately diagnosed with GATA2 haplo-insufficiency due to a GATA2 germ-line mutation and underwent a successful allogeneic bone marrow transplant from a 10/10 HLA matched unrelated donor.
Conclusions:
The case illustrates the diagnostic difficulties in identifying GATA2 deficiencies and the importance of family history and genetic testing. GATA2 plays an important role in B-cell and dendritic cell development, and decreased numbers of those cells is a characteristic feature that should prompt consideration of GATA2 deficiency in a patient with pancytopenia. Maturation of B-cells to long-lived plasma cells is relatively unaffected in GATA2 deficiency. Allogeneic stem cell transplantation can correct immune-deficiencies and prevent leukemic transformation in patients with GATA2 deficiency.
Calcifying aponeurotic fibroma of the thigh: A differential diagnosis for infant knee contracture and leg length inequality (a case report)
Authors: Liuzhe Zhang, Hiroshi Kobayashi, Masachika Ikegami, Takahiro Ohki, Yusuke Shinoda, Sakae Tanaka, Hirotaka Kawano
Journal: Int J Surg Case Rep (2020)
Keywords: calcifying aponeurotic fibroma, case report, infant knee contracture, leg length inequality
MeSH terms: Case Reports

Introduction:
Calcifying aponeurotic fibroma is an uncommon type of tumor that primarily occurs in the distal extremities of young children. It usually appears as a slow-growing and asymptomatic soft-tissue mass and rarely causes complications, such as joint contractures.
Presentation of case:
We present a case of calcifying aponeurotic fibroma that caused knee contracture and leg length inequality, in which the affected leg was longer than the other. On the patient's first visit to our hospital at 8 years of age, a solid nodule was palpable at the medial distal area of her right thigh. Magnetic resonance imaging showed a T1WI-low, fs-T2WI-slightly high 60-mm lesion on the vastus intermedius muscle with enhancement caused by a gadolinium agent. Tumor resection surgery, which was preceded by an incisional biopsy that resulted in calcifying aponeurotic fibroma, improved the knee's range of motion (extension-flexion improved from 0-80° to 0-120°). For the remaining leg length inequality of 35 mm, epiphyseal arrest surgery is planned.
Discussion and conclusion:
Very infrequently, calcifying aponeurotic fibroma can cause infant knee contracture and leg length inequality. These symptoms were seemingly caused, respectively, by fascia adhesion and by increased blood flow around the metaphysis. Timely diagnosis and appropriate surgical intervention may improve functional prognosis in affected patients.
The iTClamp in the treatment of prehospital craniomaxillofacial injury: a case series study
Authors: Jessica L Mckee, Ian A Mckee, Chad G Ball, Edward Tan, Alan Moloff, Paul McBeth, Anthony LaPorta, Brad Bennett, Dennis Filips, Carrie Teicher, Andrew W Kirkpatrick
Journal: J Inj Violence Res (2019)
MeSH terms: Emergency Medical Services, Hemorrhage / etiology, Hemorrhage / surgery, Hemostasis, Surgical / instrumentation, Maxillofacial Injuries / complications, Maxillofacial Injuries / surgery, Scalp / injuries, Accidental Falls, Accidents, Traffic, Adolescent, Adult, Aged, Aged, 80 and over, Female, Head Injuries, Closed / surgery, Head Injuries, Penetrating / surgery, Humans, Lacerations / physiopathology, Male, Middle Aged, Pressure, Retrospective Studies, Sentinel Surveillance, Young Adult

Background:
Craniomaxillofacial (CMF) injuries are very common in both civilian and military settings. Nearly half of all civilian trauma incidents include a scalp laceration and historical rates of CMF battle injuries increased from 16%-21% to 42.2%. The scalp is highly vascular tissue and uncontrolled bleeding can lead to hypotension, shock and death. Therefore, enabling on-scene providers, both military and civilian, to immediately manage scalp and face lacerations, in a manner that allows them to still function in a tactical way, offers operational advantages. This case series examines how effectively a wound-clamp (iTClamp) controlled bleeding from CMF injuries pre-hospital environment.
Methods:
The use of the iTClamp for CMF (scalp and face laceration) was extracted from iTrauma Care's post market surveillance database. Data was reviewed and a descriptive analysis was applied.
Results:
216 civilian cases of iTClamp use were reported to iTrauma Care. Of the 216 cases, 37% (n=80) were for control of CMF hemorrhage (94% scalp and 6% face). Falls (n=24) and MVC (n=25) accounted for 61% of the mechanism of injury. Blunt accounted for 66% (n=53), penetrating 16% (n=13) and unknown 18% (n=14). Adequate hemorrhage control was reported in 87.5% (n=70) of cases, three respondents reported inadequate hemorrhage control and in seven cases hemorrhage control was not reported. Direct pressure and packing was abandoned in favor of the iTClamp in 27.5% (n=22) of cases.
Conclusions:
CMF injuries are common in both civilian and military settings. Current options like direct manual pressure (DMP) often do not work well, are formidable to maintain on long transports and Raney clips are a historical suggestion. The iTClamp offers a new option for control of external hemorrhage from open wounds within compressible zones.
Iatrogenic Cushing's Syndrome: The Result of Cobicistat and Glucocorticoid Interaction in an HIV Patient After Bariatric Surgery
Authors: Vânia Benido Silva, Joana Cardoso, Maria Esteves Brandão, Isabel Mesquita, Maria Teresa Pereira
Journal: Cureus (2023)
Keywords: cobicistat, cushing syndrome, cyp3a4, fluticasone, hiv, iatrogenic cushing’s syndrome, interaction
MeSH terms: Case Reports

Cobicistat, used as a pharmacokinetic booster in therapeutic combination with human immunodeficiency virus (HIV) protease inhibitors and integrase inhibitors, is a strong inhibitor of cytochrome P450 3A4 (CYP3A4). Since most glucocorticoids are metabolized by the isoenzyme of the cytochrome P450 pathway, their plasma concentrations can be highly increased in the presence of cobicistat-boosted darunavir, with subsequent risk of iatrogenic Cushing's syndrome (ICS) and secondary adrenal insufficiency. We report a case of a 45-year-old man with HIV-hepatitis C virus co-infection treated with raltegravir and darunavir/cobicistat since 2019. In May 2021, he underwent a sleeve gastrectomy due to morbid obesity (BMI: 50.9 kg/m2) with multiple comorbidities. Four months after surgery, he was diagnosed with asthma and was started on inhaled budesonide, which was later changed to fluticasone propionate. At the 12-month postoperative visit, the patient referred proximal muscle weakness and asthenia, and suboptimal weight loss (excess weight loss of 39%) and high blood pressure were documented. Moon facies, buffalo hump, and abdominal large vinous striae were evident on physical examination. Laboratory studies showed impaired glucose metabolism and hypokalemia. Cushing's syndrome was suspected and further investigation confirmed its iatrogenic origin. The diagnosis of ICS and consequent secondary adrenal insufficiency due to an interaction between the darunavir/cobicistat combination and budesonide/fluticasone was established. Darunavir/cobicistat therapy was replaced by dolutegravir/doravirine dual therapy, inhaled corticoid was switched to beclomethasone, and glucocorticoid substitutive therapy was introduced. This is a particular case of overt ICS due to cobicistat-inhaled corticosteroid interaction in a superobese patient, developed after he underwent bariatric surgery. The presence of morbid obesity, combined with the rarity of this pharmacological complication in individuals taking cobicistat, made the correct diagnosis even more challenging. A meticulous review of pharmacologic habits and potential interactions is essential to avoid serious harm to patients.
Floating thrombus in the right heart associated with pulmonary embolism: The role of echocardiography
Authors: Kashif Naeem
Journal: Pak J Med Sci (2015)
Keywords: echocardiography, free-floating thrombus, pulmonary embolism
MeSH terms: Case Reports

Free-floating right heart thrombi are rare and usually represent travelling clots from venous system to the lung. Almost exclusively, they are associated with pulmonary embolism. Despite associated high mortality, they are frequently under-diagnosed. We report a case of bilateral pulmonary embolism which was found to have a free-floating right atrial thrombus on echocardiography. The case, therefore, highlights the importance of echocardiography as a key examination in this setting. It can be performed at bedside to directly visualize the thrombi, assess and monitor right ventricular (RV) function, and help in making treatment decisions.