OpenMed/multicare-articles huggingface dataset:
Case report: Combined transarterial and direct approaches for embolization of a large mandibular arteriovenous malformation
Authors: Chiramel George Koshy, Shyamkumar N Keshava, Vinu Moses, Sudipta Sen
Journal: Indian J Radiol Imaging (2011)
Keywords: arteriovenous malformation, embolization, mandible
MeSH terms: Case Reports

Arteriovenous malformations (AVMs) that involve the mandible are difficult lesions to treat, with traditional options being surgery and embolization. This article describes a large mandibular AVM that was treated with embolization using transarterial as well as direct puncture approaches. Follow-up imaging showed thrombosis of the vascular spaces of the malformation. There were no complications. The patient is doing well and is on follow-up.
Tako-tsubo cardiomyopathy in a patient with advanced colorectal adenocarcinoma
Authors: Yusuf Kasirye, Ihab B Abdalrahman
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Transient left ventricular dysfunction syndrome (TLVDS), or Tako-Tsubo cardiomyopathy (TC), is a clinical entity in which patients present with features of acute coronary syndrome, electrocardiogram abnormalities, and transient left ventricular (apical or mid-ventricular) dysfunction. Patients usually recover from this condition four to six weeks after the event. The etiology or triggering factors of TC remains unknown. Various triggering factors have been associated with this syndrome, with one of the most recent being malignancies. In this case report we present a postmenopausal female with underlying advanced malignancy who presented with TC. This is consistent with a recent hypothesis that in addition to currently known triggering factors, malignancies might well trigger TC in the context of a stressor or paraneoplastic phenomenon.
Melkersson-Rosenthal syndrome: a case report of a rare disease with overlapping features
Authors: Mauro Cancian, Stefano Giovannini, Annalisa Angelini, Marny Fedrigo, Raffaele Bendo, Riccardo Senter, Stefano Sivolella
Journal: Allergy Asthma Clin Immunol (2019)
Keywords: angioedema, c1-inhibitor, cheilitis granulomatosa, complement, lip edema, melkersson–rosenthal syndrome, miescher syndrome
MeSH terms: Case Reports

Background:
Melkersson-Rosenthal syndrome (MRS) is a rare, neuro-mucocutaneous disease which presents as orofacial swelling, facial palsy and fissured tongue. These symptoms may occur simultaneously or, more frequently, with a oligosymptomatic or monosymptomatic pattern. Swelling, that is the most common initial finding, may mimic hereditary or acquired angioedema, a disorder caused by histamine or bradykinin-mediated plasma-leakage affecting subcutaneous and/or submucosal tissue. The differential diagnosis of MRS includes also chronic inflammatory and infective diseases characterized by granulomatous infiltration, as well as rosacea, contact dermatitis, allergic reactions and Bell's palsy.
Case presentation:
A 71-year old, non-allergic female patient with no familial and personal history of angioedema presented, a few days after a possible herpes simplex or varicella-zoster virus infection, with monolateral facial paraesthesia and lower lip edema. After temporary remission of symptoms on oral steroids and antihistamines, she showed swelling recurrence refractory to valaciclovir therapy and a subsequent course of antihistamines. The clinical picture and a previous history of non-Hodgkin lymphoma prompted us to rule out an acquired form of paraneoplastic, C1-inhibitor (C1-INH) deficiency: C1q and both antigen and functional C1-INH tested normal, whilst we found low plasma levels of C3 and C4 possibly related to the parallel detection of antiphospholipid antibodies. Thus, we hypothesized a non-histaminergic, idiopathic form of angioedema and planned further therapy with tranexamic acid and the leukotriene receptor antagonist montelukast. Treatment failure with both drugs finally suggested a Melkersson-Rosenthal syndrome, which was confirmed by histologic findings of non caseating granulomas on lip biopsy.
Conclusion:
Melkersson-Rosenthal syndrome may occur with rather non-specific symptoms and overlap with alternative conditions, including recurrent angioedema. No specific biomarkers for MRS exist and clinical diagnosis is often of exclusion. The finding of complement or immune alterations, as in our patient, may be further confounding and justify the need for skin or mucosal biopsy to establish a correct diagnosis and prescribe targeted therapy.
Infant exposure to Fluvoxamine through placenta and human milk: a case series - A contribution from the ConcePTION project
Authors: Anaëlle Monfort, Evelina Cardoso, Chin B Eap, Céline J Fischer Fumeaux, Myriam Bickle Graz, Mathilde Morisod Harari, Etienne Weisskopf, Peggy Gandia, Karel Allegaert, Hedvig Nordeng, Jean-Michel Hascoët, Olivier Claris, Manuella Epiney, Chantal Csajka, Monia Guidi, Ema Ferreira, Alice Panchaud
Journal: Front Psychiatry (2023)
Keywords: cord blood, fluvoxamine, human milk, infant exposure, lactation, pregnancy
MeSH terms: Case Reports

Introduction:
Fluvoxamine is widely used to treat depression during pregnancy and lactation. However, limited data are available on its transfer to the fetus or in human milk. This case series provides additional information on the infant exposure to fluvoxamine during pregnancy and lactation.
Case presentation:
Two women, aged 38 and 34 years, diagnosed with depression were treated with 50 mg fluvoxamine during pregnancy and lactation. At delivery a paired maternal and cord blood sample was collected for each woman. The first mother exclusively breastfed her child for 4 months and gave one foremilk and one hindmilk sample at 2 days and 4 weeks post-partum, whereas the second mother did not breastfeed.
Results:
The cord to plasma concentration ratios were 0.62 and 0.48, respectively. At 2 weeks post-partum, relative infant doses (RID) were 0.47 and 0.57% based on fluvoxamine concentrations in foremilk and hindmilk, respectively. At 4 weeks post-partum, the RIDs were 0.35 and 0.90%, respectively. The child from the first mother was born healthy and showed a normal development at the 6th, 18th and 36th month follow-ups. One of the twins from the second woman was hospitalized for hypoglycemia that was attributed to gestational diabetes and low birth weight. The second one was born healthy.
Conclusion:
These results suggest a minimal exposure to fluvoxamine during lactation which is in accordance with previously published data. Larger clinical and pharmacokinetic studies assessing the long-term safety of this drug during lactation and the variability of its exposure through breastmilk are warranted.
New Delhi metallo-β-lactamase in Klebsiella pneumoniae and Escherichia coli, Canada
Authors: Michael R Mulvey, Jennifer M Grant, Katherine Plewes, Diane Roscoe, David A Boyd
Journal: Emerg Infect Dis (2011)
MeSH terms: Drug Resistance, Multiple, Bacterial, Escherichia coli / drug effects, Escherichia coli Infections / epidemiology, Klebsiella Infections / epidemiology, Klebsiella pneumoniae / drug effects, beta-Lactamases / genetics, beta-Lactamases / metabolism, Case Reports, Aged, Anti-Bacterial Agents / pharmacology, Canada / epidemiology, Escherichia coli / enzymology, Escherichia coli / genetics, Escherichia coli / isolation & purification, Escherichia coli Infections / microbiology, Fatal Outcome, Female, Humans, India, Klebsiella Infections / microbiology, Klebsiella pneumoniae / enzymology, Klebsiella pneumoniae / genetics, Klebsiella pneumoniae / isolation & purification, Microbial Sensitivity Tests, Plasmids, Travel, Anti-Bacterial Agents, beta-Lactamases, beta-lactamase NDM-1

Multidrug-resistant Klebsiella pneumoniae and Escherichia coli isolates harboring New Delhi metallo-β-lactamase (NDM-1) were isolated from a patient who had returned to Canada from India. The NDM-1 gene was found on closely related incompatibility group A/C type plasmids. The occurrence of NDM-1 in North America is a major public health concern.
Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases
Authors: Constantia Aristidou, Athina Theodosiou, Mads Bak, Mana M Mehrjouy, Efthymia Constantinou, Angelos Alexandrou, Ioannis Papaevripidou, Violetta Christophidou-Anastasiadou, Nicos Skordis, Sophia Kitsiou-Tzeli, Niels Tommerup, Carolina Sismani
Journal: PLoS One (2018)
MeSH terms: Facies, Hearing Loss / genetics, Intellectual Disability / genetics, Language Development Disorders / genetics, Translocation, Genetic, Case Reports, Research Support, Non-U.S. Gov't, Base Sequence, Chromosome Breakpoints, Female, Gene Expression, Hearing Loss / diagnosis, Hearing Loss / physiopathology, Humans, Intellectual Disability / diagnosis, Intellectual Disability / physiopathology, Karyotype, Language Development Disorders / diagnosis, Language Development Disorders / physiopathology, NFI Transcription Factors / deficiency, NFI Transcription Factors / genetics, POU Domain Factors / deficiency, POU Domain Factors / genetics, Phenotype, SOXD Transcription Factors / deficiency, SOXD Transcription Factors / genetics, Whole Genome Sequencing, NFI Transcription Factors, NFIB protein, human, POU Domain Factors, POU3F4 protein, human, SOX5 protein, human, SOXD Transcription Factors

The majority of apparently balanced translocation (ABT) carriers are phenotypically normal. However, several mechanisms were proposed to underlie phenotypes in affected ABT cases. In the current study, whole-genome mate-pair sequencing (WG-MPS) followed by Sanger sequencing was applied to further characterize de novo ABTs in three affected individuals. WG-MPS precisely mapped all ABT breakpoints and revealed three possible underlying molecular mechanisms. Firstly, in a t(X;1) carrier with hearing loss, a highly skewed X-inactivation pattern was observed and the der(X) breakpoint mapped ~87kb upstream an X-linked deafness gene namely POU3F4, thus suggesting an underlying long-range position effect mechanism. Secondly, cryptic complexity and a chromothripsis rearrangement was identified in a t(6;7;8;12) carrier with intellectual disability. Two translocations and a heterozygous deletion disrupted SOX5; a dominant nervous system development gene previously reported in similar patients. Finally, a direct gene disruption mechanism was proposed in a t(4;9) carrier with dysmorphic facial features and speech delay. In this case, the der(9) breakpoint directly disrupted NFIB, a gene involved in lung maturation and development of the pons with important functions in main speech processes. To conclude, in contrast to familial ABT cases with identical rearrangements and discordant phenotypes, where translocations are considered coincidental, translocations seem to be associated with phenotype presentation in affected de novo ABT cases. In addition, this study highlights the importance of investigating both coding and non-coding regions to decipher the underlying pathogenic mechanisms in these patients, and supports the potential introduction of low coverage WG-MPS in the clinical investigation of de novo ABTs.
Trismus during tracheal extubation as a complication of general anaesthesia - A case report
Authors: Paweł Radkowski, Bartosz Kędziora, Justyna Dawidowska-Fidrych
Journal: Open Med (Wars) (2022)
Keywords: bradycardia, cannot ventilate, general anaesthesia, laryngeal mask, succinylcholine
MeSH terms: Case Reports

Tracheal extubation is a risky phase of anaesthesia. Most complications that occur when an endotracheal tube is removed are of minor nature, but those that require critical action can end in serious complications or even death. Patient - A 55-year-old woman was admitted for elective transabdominal hysterectomy and adnexal procedures. Anaesthesia - Standard monitoring. For induction, we used fentanyl, propofol, and rocuronium. The maintenance phase of anaesthesia was without complications. After extubation, the patient presented with severe trismus and mask ventilation was unsuccessful (cannot ventilate) - It was not until 200 mg of succinylcholine was administered that the masseter muscle spasm subsided. Extubation is a process that must always be planned. A routine approach and lack of a contingency plan is responsible for a number of complications related to the period of patient awakening and associated with the removal of the endotracheal tube. Trismus, in response to extubation, is a phenomenon not described in the literature in non-high risk patients.
Neonatal Abstinence Syndrome: Twins Case Series
Authors: Rajesh Pandey, Narmada Pandey Sapkota, Deepak Kumar
Journal: Front Pediatr (2017)
Keywords: determinants of neonatal abstinence syndrome, dizygotic twins, genetic, intrauterine opioid exposure, monozygotic twins, neonatal abstinence syndrome, newborn, severity of neonatal abstinence syndrome
MeSH terms: Case Reports

Background:
Use or abuse of opioids and related drugs during pregnancy increases the risk of maternal and neonatal morbidities, including increased susceptibility to Neonatal Abstinence Syndrome (NAS). Severity of NAS is determined by both environmental and genetic factors, but the level of influence each one of them has in determining the severity of NAS is not fully understood. Since the incidence and severity of NAS vary a lot among susceptible infants, twin studies might give us valuable insights into understanding the relative roles of environmental and genetic factors at the onset of the disease and during its progression. Higher concordance of occurrence and severity of NAS in monozygotic twins compared to dizygotic twins would suggest a genetic role in the pathogenesis of NAS. However, comparable concordance suggests a non-genetic or an environmental basis. In this case series, we report neonatal outcomes including severity of NAS among monozygotic and dizygotic twins.
Methods:
A retrospective chart review was performed for all newborn twins who were at risk of developing NAS, were born in our institution between January 2006 and December 2014, and had a gestational age of 30 weeks or greater.
Results:
During the study period, we identified seven sets (total of 14 infants) of eligible twins, comprising six dizygotic and one monozygotic twins, from a total of 550 infants who were at risk of developing NAS. Among the seven sets of twins, two sets were concordant for severe NAS and required pharmacological management, three sets of twins were concordant in not having severe NAS and did not require pharmacological management, and the remaining two sets were discordant, where one of the twins required pharmacological treatment.
Conclusion:
Five of the seven sets of twins in our study exhibited concordance and two sets showed discordance in withdrawal severity. Larger studies may help in understanding the roles of genetic and environmental factors in determining the severity of NAS.
Case report: Osimertinib administration during pregnancy in a woman with advanced EGFR-mutant non-small cell lung cancer
Authors: Pamela Soberanis Pina, Luis Lara-Mejía, Venecia Matias-Cruz, Feliciano Barrón, Andrés F Cardona, Luis E Raez, Eduardo Rios-Garcia, Oscar Arrieta
Journal: Front Oncol (2023)
Keywords: egfr-tki, case report, lung adenocarcinoma, metastatic disease, pregnancy
MeSH terms: Case Reports

Lung cancer (LC) is one of the most common causes of death worldwide. The identification of oncogene-addicted driving mutations suitable for targeted therapy has improved clinical outcomes in advanced diseases. Clinical trials, on the other hand, rarely involve vulnerable groups such as pregnant women. We report a 37-year-old woman with advanced non-small cell lung cancer (NSCLC) harboring an exon 19 deletion of EGFR treated with afatinib. After the initial treatment, the patient achieved a complete response and had an unplanned pregnancy. Targeted therapy was withheld during the first trimester and resumed with osimertinib in the second trimester in which the patient developed oligohydramnios and intrauterine growth restriction (IUGR) of the baby. Osimertinib was delayed at two different times during the third trimester with complete resolution of the oligohydramnios. The baby was born at 37.3 weeks of gestation (WOG) with no signs of congenital disorders. After delivery, the mother restarted osimertinib and maintained a complete response. This case suggests that osimertinib could be an acceptable option for tumor control during pregnancy in EGFR-mutant NSCLC. This information do not replace current recommendations for avoiding pregnancy and promoting contraceptive usage in patients receiving any cancer therapy.
Extrapulmonary Tuberculosis masquerading as chest wall malignancy: Just never ceases to surprise!
Authors: Mousa Hussein, Ahmad Abdelhadi, Anam Elarabi, Ibrahim Rashid, Abbas Alabbas, Aisha Aladab
Journal: IDCases (2021)
Keywords: chest wall mass, cold abscess, extrapulmonary tuberculosis, musculoskeletal tuberculosis, rib fracture
MeSH terms: Case Reports

With the emergence of the acquired immunodeficiency syndrome, we witnessed a higher incidence of disseminated and extrapulmonary tuberculosis. The infection sites commonly include lymph nodes, pleura, and osteoarticular areas, although any organ can be involved. Given the atypical presentation of the extrapulmonary disease, it poses a significant diagnostic challenge for the physicians; therefore, a high index of suspicion should be maintained, particularly where tuberculosis is endemic. Here we present a case of isolated chest wall tuberculosis in an immunocompetent patient.
Abdominal wall mycetoma presented as obstructed incisional hernia of cesarean section in eastern Sudan
Authors: Osama A Elhardello, Elsadig S Adam, Ishag Adam
Journal: Infect Dis Obstet Gynecol (2009)
MeSH terms: Abdominal Wall / microbiology, Hernia, Abdominal / diagnosis, Madurella / isolation & purification, Mycetoma / diagnosis, Case Reports, Abdominal Wall / pathology, Cesarean Section / adverse effects, Cicatrix / microbiology, Cicatrix / pathology, Diagnosis, Differential, Female, Hernia, Abdominal / drug therapy, Humans, Ketoconazole / therapeutic use, Mycetoma / drug therapy, Mycetoma / microbiology, Sudan, Young Adult, Ketoconazole

Mycetoma a worldwide disease frequently occurs in the tropics with the highest prevalence being in Africa. Madurella mycetomatis is the main causative organism of human eumycetoma in Sudan. The legs and feet were commonly the sites of the infection. A 22-year-old lady was presented with painful abdominal swelling around a previous caesarian section scar. A provisional diagnosis of obstructed incisional hernia was put. Histopathological examination revealed macroscopically four masses of soft tissue. Microscopic sections showed grains of Madurella mycetomatis.
Denosumab Therapy for Giant Cell Tumor of Bone Pulmonary Metastasis
Authors: Ryan Carlisle Egbert, Ryan Folsom, Jeff Bell, Rajiv Rajani
Journal: Case Rep Orthop (2017)
MeSH terms: Case Reports

Case:
A 68-year-old female was diagnosed with giant cell tumor of bone (GCTB) metastatic to her lungs. The patient was treated with IV denosumab for the course of 4.5 years for these metastases. The metastatic tumor burden decreased significantly after only 3 months of therapy. The size of the metastases has been stable for over 4 years.
Conclusion:
Denosumab therapy has promise in the treatment of GCTB, including pulmonary metastasis. However, the long-term role of denosumab for pulmonary metastases is yet to be determined.
Tubulo-villous adenoma of the appendix: A case report and review of the literature
Authors: Giuseppe Evola, Giovambattista Caruso, Sebastiano Caramma, Giovanni Dapri, Carmela Spampinato, Carlo Reina, Giuseppe Angelo Reina
Journal: Int J Surg Case Rep (2019)
Keywords: acute appendicitis, appendectomy, appendiceal neoplasms, case report, risk factors, tubulo-villous adenoma

Introduction:
Tubulo-villous adenoma is a rare benign appendiceal neoplasm often asymptomatic with the most clinical manifestation that resembles acute appendicitis. Pre-operative diagnosis is difficult by its rarity and the absence of typical symptoms. Adequate treatment is surgical resection.
Presentation of case:
A 69-year-old male was admitted to the Emergency Department with a two-day history of abdominal pain associated with constipation. Abdominal examination revealed abdominal pain localized, at deep palpation, in the right iliac fossa and in hypogastrium without obvious muscle guarding or rebound tenderness. Laboratory tests showed a normal white blood cell count with 82.3% neutrophils and high C-reactive protein level. After a negative abdominal ecography, the patient was evaluated by abdominal computed tomography, which revealed acute appendicitis. The patient was submitted to surgery and open appendectomy was performed. The post-operative course was uneventful and the patient was discharged on the 5th post-operative day.
Discussion:
Acute appendicitis may be a clinical manifestation of a benign appendiceal neoplasm. Pre-operative radiological investigations not always are useful for an early diagnosis that is mandatory because of the potential risk of malignant degeneration. Appropriate treatment of acute appendicitis is debated: some surgeons suggest operative treatment, but others advocate for non-operative management. In our case the patient was submitted to surgery avoiding the risk of diagnostic delay of neoplasm.
Conclusion:
Appendiceal tubulo-villous adenoma is a rare neoplasm difficult to diagnose and suspect because of lack of pathognomonic symptoms and specific diagnostic signs. Acute appendicitis is the most common clinical presentation. Appendectomy is the appropriate treatment.
Mullerian-Type Ciliated Cyst of the Thigh with PAX-8 and WT1 Positivity: A Case Report and Review of the Literature
Authors: Corinthia Fabien-Dupuis, Brian Cooper, Jeffrey Upperman, Shengmei Zhou, Nick Shillingford
Journal: Case Rep Med (2016)

Mullerian-type ciliated cysts are uncommon lesions usually found in the lower extremities and perineal region of young females. They have however been reported in males and in other anatomic sites. The cyst lining is typically positive for estrogen receptor (ER), progesterone receptor (PR), PAX-8, and WT1 immunohistochemical stains. This staining pattern has led to the notion that these cysts are of Müllerian origin. The vast majority of cases are located in the dermis where the preferred nomenclature is cutaneous ciliated cyst (CCC). We report a case of Müllerian-type ciliated cyst in the thigh of a 16-year-old girl. Unlike most of the cases reported in the English literature, this cyst was not centered in the dermis. Only a few other cases of Müllerian-type ciliated cysts with no cutaneous connection have been reported. We propose the term ectopic Müllerian cyst for this rare subset of lesions that are not skin based as is the current case.