OpenMed/multicare-articles huggingface dataset:
Extracorporeal Membrane Oxygenation Support for Cardiac Dysfunction Due to Kawasaki Disease Shock Syndrome
Authors: Han Zhang, Lijian Xie, Tingting Xiao
Journal: Front Pediatr (2019)
Keywords: kawasaki disease, kawasaki disease shock syndrome, cardiogenic shock, extracorporeal membrane oxygenation, intravenous γ-globulin resistance
MeSH terms: Case Reports

Background: Kawasaki disease (KD) is usually characterized as an inflammatory vasculitis during early childhood, which predominantly involves medium-sized arteries and is treated with intravenous γ-globulin (IVIG) and oral aspirin. KD with hemodynamic instability, characterized by systolic blood pressure decreasing by more than 20% below the normal range, is defined as Kawasaki disease shock syndrome (KDSS). The pathogenesis of KDSS is still not comprehensively understood. Life-threatening cardiogenic shock can occur during the acute phase of KDSS, while the mechanism of cardiac dysfunction due to KDSS is still controversial, and such cases are rarely reported. Here, we present the application of veno-arterial (VA) extracorporeal membrane oxygenation (ECMO) for cardiac function support of a child with KDSS. By doing so, it will be a reminder that KDSS can cause severe cardiac dysfunction, and we should stay vigilant at the early stage of the disease to distinguish KDSS from toxic septic shock in the first place and initiate the appropriate treatment at the right moment, in order to prevent such patients from having irreversible outcomes.
Giant Cell Tumor of Tendon Sheath and Tendinopathy as Early Features of Early Onset Sarcoidosis
Authors: Shaoling Zheng, Pui Y Lee, Yukai Huang, Aiwu Wang, Tianwang Li
Journal: Front Pediatr (2019)
Keywords: blau syndrome, early onset sarcoidosis, giant cell tumor of tendon sheath, tendinopathy, tumor
MeSH terms: Case Reports

Giant cell tumor of tendon sheath (GCTTS) is characterized by diffuse proliferation of synovial-like cells and multinucleated giant cells along tendon sheaths. This benign tumor typically presents in the third to fourth decade of life and is exceeding rare in children. Here we describe a case of a 10-years-old girl with a history of soft tissue swelling involving the third digit of left hand, bilateral wrists and ankles. Pathology of the finger mass revealed abundant multinucleated giant cells consistent with GCTTS. Resection of the tendinous masses from the ankles also showed multinucleated giant cells along with chronic bursitis. She began to show features of polyarticular arthritis by age 7. Due to progression of arthritis, whole exome sequencing was performed and found a de novo heterozygous mutation in NOD2 (p. R334Q). This variant is the most common mutation responsible for early onset sarcoidosis (EOS)/Blau syndrome, an autoinflammatory disease characterized by granulomatous inflammation of joints, skin and eyes. The early onset of symptoms and presence of multinucleated giant cells and granuloma in this case are in keeping with a diagnosis of EOS/Blau syndrome. The patient responded well to treatment with methotrexate and etanercept. This case extends the clinical spectrum of EOS/Blau syndrome, which should be considered for GCTTS and other unusual presentations of tendon inflammation in children, even in the absence of the characteristic triad of arthritis, dermatitis and uveitis.
Acute appendicitis in a man undergoing therapy for mantle cell lymphoma
Authors: Michael Linden, Ajay Gopal, Kerstin Edlefsen
Journal: Case Rep Hematol (2012)
MeSH terms: Case Reports

A 71-year-old man was diagnosed with an aggressive mantle cell lymphoma and was started on six cycles of R-CHOP chemotherapy. Approximately two weeks after starting his first cycle of chemotherapy, he complained of severe right lower quadrant abdominal pain, and an abdominal CT scan demonstrated an enlarged appendix with evidence of contained perforation. The man underwent open appendectomy for acute appendicitis and recovered. The appendectomy specimen was submitted for routine pathological analysis. There was histologic evidence of perforation in association with an inflammatory infiltrate with fibrin adhered to the serosal surface; scattered small lymphoid aggregates were present on the mucosal surface. Although the lymphoid aggregates in the submucosa and lamina propria were rather unremarkable by routine histologic examination, immunohistochemistry revealed the lymphocytes to be predominantly Cyclin D1-overexpressing B cells. To our knowledge, this is the first reported case of acute appendicitis in association with appendiceal involvement by mantle cell lymphoma.
A Rare Case of Metastatic Choriocarcinoma of Lung Origin
Authors: Parth Rali, Jianwu Xie, Grishma Rali, Mayur Rali, Jan Silverman, Khalid Malik
Journal: Case Rep Pulmonol (2017)
MeSH terms: Case Reports

Choriocarcinoma is part of the spectrum of gestational trophoblastic disease that occurs in women of reproductive age. Although the most common metastatic site of choriocarcinoma is the lung, primary pulmonary choriocarcinoma is rare. To diagnose primary pulmonary choriocarcinoma, the patient should have no previous gynecologic malignancy, have elevated human chorionic gonadotropin, and have pathological confirmation of the disease excluding gonadal primary site of the tumor. Due to the paucity of data, there are no guidelines for treatment. Prognosis of this malignancy is extremely poor. We report a rare case of metastatic primary lung choriocarcinoma in a 69-year-old postmenopausal woman who was treated with combination of surgery, chemotherapy, and radiation. The patient had a good outcome and is doing well after 1-year follow-up.
Is ADHD a way of conceptualizing long-term emotional stress and social disadvantage?
Authors: Soly I Erlandsson, Christoffer Hornborg, Emma Sorbring, Nicolas Dauman
Journal: Front Public Health (2022)
Keywords: adhd, attachment, biopsychosocial, family relations, overdiagnosis, social disadvantage
MeSH terms: Attention Deficit Disorder with Hyperactivity, Psychological Distress, Review, Adolescent, Anxiety, Child, Humans, Overdiagnosis, Parents

Background:
The prevalent, neuropsychiatric, deficit perspective on children and youth diagnosed with ADHD prohibits a multidimensional approach where socio-economic status, family stress and relationships within the families are relevant factors to examine. Assessments of ADHD through the use of rating scales and short-term interventions may lead not only to overdiagnosis but also to a reductionistic approach in the psychiatric field. This literature review aims to address research outside the prevailing discourse on ADHD as an organic brain dysfunction and broaden the perspectives on children's behavioral difficulties.
Methods:
The articles included in this applied, mixed-method, systematic review includes 26 peer-reviewed articles, both English and French, with a search focus on ADHD in children and youth related to Attachment styles and relationships.
Results:
In the studies reported, researchers approached correlations between ADHD and attachment in different ways, and in most cases, there was a caution to address causality. The role of parents was found to be both buffering and aggravating for the appearance of ADHD. In the French case studies, the diagnosis was conceptualized as a relational phenomenon where the child's behavior was inseparable from family member's suffering.
Discussion:
This review article illustrates how children's difficulties in terms of ADHD symptoms can be addressed through a paradigm where emotional and cognitive dysregulation is understood through psychosocial factors rather than as a neurological condition. In our view, to avoid an overly reductionistic and medicalized approach to children's behavioral difficulties, it is time to reiterate the value of the biopsychosocial perspective.
Conclusion:
Professionals and researchers need to acknowledge that becoming diagnosed with ADHD has a strong connection to economic disadvantage, social status, and familial care. The academic discourse of addressing brain dysfunctions might serve the unintended purpose of masking emotional stress and social disadvantage that manifests across generations. A biopsychosocial approach to ADHD including family, emotional history, and socio-economic issues could imply a lesser focus on medical treatment as a first choice.
Complete genome sequence of a commensal bacterium, Hafnia alvei CBA7124, isolated from human feces
Authors: Hye Seon Song, Joon Yong Kim, Yeon Bee Kim, Myeong Seon Jeong, Jisu Kang, Jin-Kyu Rhee, Joseph Kwon, Ju Suk Kim, Jong-Soon Choi, Hak-Jong Choi, Young-Do Nam, Seong Woon Roh
Journal: Gut Pathog (2017)
Keywords: comparative genomics, complete genome sequence, gut microbiota, hafnia alvei cba7124
MeSH terms: Case Reports

Background:
Members of the genus Hafnia have been isolated from the feces of mammals, birds, reptiles, and fish, as well as from soil, water, sewage, and foods. Hafnia alvei is an opportunistic pathogen that has been implicated in intestinal and extraintestinal infections in humans. However, its pathogenicity is still unclear. In this study, we isolated H. alvei from human feces and performed sequencing as well as comparative genomic analysis to better understand its pathogenicity.
Results:
The genome of H. alvei CBA7124 comprised a single circular chromosome with 4,585,298 bp and a GC content of 48.8%. The genome contained 25 rRNA genes (9 5S rRNA genes, 8 16S rRNA genes, and 8 23S rRNA genes), 88 tRNA genes, and 4043 protein-coding genes. Using comparative genomic analysis, the genome of this strain was found to have 72 strain-specific singletons. The genome also contained genes for antibiotic and antimicrobial resistance, as well as toxin-antitoxin systems.
Conclusions:
We revealed the complete genome sequence of the opportunistic gut pathogen, H. alvei CBA7124. We also performed comparative genomic analysis of the sequences in the genome of H. alvei CBA7124, and found that it contained strain-specific singletons, antibiotic resistance genes, and toxin-antitoxin systems. These results could improve our understanding of the pathogenicity and the mechanism behind the antibiotic resistance of H. alvei strains.
The Indian Basket Trick: a case of delayed paraplegia with complete recovery, caused by misplaced thoracic pedicle screw
Authors: Antonin Leroy, Reda Kabbaj, Arnaud Dubory, Manon Bachy, Anne-Isabelle Vermersch, Raphaël Vialle
Journal: Springerplus (2016)
Keywords: late paraplegia, misplaced pedicle screw, sep monitoring, scoliosis

Introduction:
Pedicle screw fixation allows purchase of all three spinal columns without encroaching into the spinal canal improving fracture fixation, as well as deformity correction. Fortunately, neurologic injury associated with pedicle screw malposition is rare.
Case presentation:
A 19-year-old boy was surgically treated for severe right thoracic scoliosis associated with a Chiari Type 1 malformation and a C6 to T7 syringomyelia. Six months after the initial surgery, the patient was referred to our institution after three weeks of gait disturbances and repeated falls. Imaging showed the gross misplacement of the left T5 pedicle screw, which crossed the center of the vertebral canal. The initial surgery used a freehand technique of pedicle screw insertion, with anteroposterior and lateral postoperative X-ray control. During the surgery, no SEP modifications were noted during pedicle screw placement. However, after insertion of the second rod and scoliosis correction by posterior translation technique, SEP responses decreased considerably. Revision surgery was performed to remove the misplaced screw. During the first three months after screw removal, repeated clinical examinations showed progressive recovery of the neurological deficits. Gait and bladder functions were normal six months after screw removal, and clinical signs of spasticity disappeared. SEP explorations performed at final follow-up showed similar responses to those performed before the initial surgery for scoliosis correction.
Discussion and evaluation:
Neurologic injury associated with pedicle screw malposition is rare. In early or delayed neurological status worsening, intraoperative or postoperative imaging must be done to detect pedicle screw misplacement. In the current case, thanks to cobalt-chromium and titanium use, MRI and CT scan allowed good visualization of the spinal canal and spinal cord. Experimental studies have shown that neurophysiological monitoring of the spinal cord does not detect moderate compression. In that way, neurophysiological monitoring is an all-or-nothing technique which can misdiagnose early stage of spinal cord injuries. Major penetration of the spinal canal by pedicle screw may conduct to hardware removal.
Conclusions:
In early or delayed neurological status worsening, intraoperative or postoperative imaging must be done to detect pedicle screw misplacement. In the current case, thanks to cobalt-chromium and titanium use, MRI and CT scan allowed good visualization of the spinal canal and spinal cord. Major penetration of the spinal canal by pedicle screw may conduct to hardware removal.
Blau syndrome with hypertension and hepatic granulomas: a case report and literature review
Authors: Fangling Yao, Bei Tan, Di Wu, Min Shen
Journal: Front Pediatr (2023)
Keywords: blau syndrome, nod2 gene, digestive system, hepatic granuloma, hepatosplenomegaly, hypertension
MeSH terms: Case Reports

Background:
Blau syndrome (BS) is a monogenic disorder caused by NOD2 gene variants characterized by the triad of granulomatous polyarthritis, rash, and uveitis. Atypical symptoms were recognized in one-third to one-half of individuals with BS. This study aims to describe the clinical features of BS patients with hypertension and digestive system involvement.
Methods:
The complete clinical data of a BS patient complicated with hypertension and hepatic granulomas were collected and documented. We also performed a literature search to find all reported cases of BS with hypertension and digestive system involvement.
Results:
We reported the case of a 19-year-old man who presented with early onset symmetric polyarthritis and hypertension at age 5 and hepatic granulomas and cirrhosis at age 19. He was diagnosed with BS by the finding of a variant of the NOD2 gene (R334W). Through the literature review, 24 patients with BS were found who were reported to have hypertension, and 38 patients were found who had different digestive system manifestations such as hepatic granulomas, hepatosplenomegaly, diverticulitis, and intestinal granuloma. Among the 38 BS patients with digestive system involvement, 14 had hepatic granulomas proven by liver biopsy.
Conclusions:
Hypertension and digestive system involvement are rare manifestations of BS. Clinicians, especially rheumatologists, must be aware of atypical symptoms of BS.
A Case of Diffuse Leptomeningeal Glioneuronal Tumor Misdiagnosed as Chronic Tuberculous Meningitis without Brain Biopsy
Authors: Jung Koo Lee, Hak-Cheol Ko, Jin-Gyu Choi, Youn Soo Lee, Byung-Chul Son
Journal: Case Rep Neurol Med (2018)
MeSH terms: Case Reports

Here we report a rare case of diffuse leptomeningeal glioneuronal tumor (DLGNT) in a 62-year-old male patient misdiagnosed as having tuberculous meningitis. Due to its rarity and radiologic findings of leptomeningeal enhancement in the basal cisterns on magnetic resonance imaging (MRI) similar to tuberculous meningitis, DLGNT in this patient was initially diagnosed as communicating hydrocephalus from tuberculous meningitis despite absence of laboratory findings of tuberculosis. The patient's symptoms and signs promptly improved after a ventriculoperitoneal shunting surgery followed by empirical treatment against tuberculosis. Five years later, mental confusion and ataxic gait developed in this patient again despite well-functioning ventriculoperitoneal shunt. Aggravation of leptomeningeal enhancement in the basal cisterns was noted in MRI. An additional course of antituberculosis medication with steroid was started without biopsy of the brain. Laboratory examinations for tuberculosis were negative again. After four months of improvement, his mental confusion, memory impairment, dysphasia, and ataxia gradually worsened. A repeated MRI of the brain showed further aggravation of leptomeningeal enhancement in the basal cisterns. Biopsy of the brain surface and leptomeninges revealed a very rare occurrence of DLGNT. His delayed diagnosis of DLGNT might be due to prevalence of tuberculosis in our country, similarity in MRI finding of prominent leptomeningeal enhancement in the basal cisterns, and extreme rarity of DLGNT in the elderly. DLGLT should be considered in differential diagnosis of medical conditions presenting as communicating hydrocephalus with prominent leptomeningeal enhancement. A timely histologic diagnosis through a leptomeningeal biopsy of the brain and spinal cord in case of unusual leptomeningeal enhancement with uncertain laboratory findings is essential because cytologic examination of the cerebrospinal fluid in DLGNT is known to be negative.
First case report of turcot syndrome type 1 in Colombia
Authors: Vallejo Dora, Garnica Diego, Bonilla Rómulo, Olaya Natalia
Journal: Case Rep Oncol Med (2012)

Turcot syndrome is an autosomal recessive disorder clinically characterized by the occurrence of primary tumors of the central nervous system and adenomatous colonic polyps during the first or second decades of life, with a spectrum of clinical features such as "café-au-lait" spots, axillary freckling, and hyperpigmented spots. Currently its prevalence globally and in Colombia remains unknown. We present the case of a 20-year-old male with a clinical presentation of both glioblastoma multiforme and multiple adenomatous colonic polyps. The molecular genetics study revealed a mutation in Kras(Asp12) gene and altered expression of HMSH2 and HMSH6 proteins encoded by the DNA mismatch repair genes in two of the colonic polyps. Even though this clinical presentation may suggest a shorter survival rate, this patient is still alive after seven months of treatment. A literature review complements this report.
A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients
Authors: Nagwa E A Gaboon, Asia Parveen, Khaled A Ahmad, Taghreed Shuaib, Jumana Y Al-Aama, Lereen Abdelwehab, Amina Arif, Naveed Wasif
Journal: Front Pediatr (2020)
Keywords: dym, dyggve-melchior-clausen syndrome, sanger sequencing, smith-mccort dysplasia, consanguineous
MeSH terms: Case Reports

Background: Dyggve-Melchior-Clausen syndrome (DMC) is a skeletal dysplasia with associated defects of brain development and intelligence. The truncating pathogenic variants in DYM are the most frequent cause of DMC. Smith-McCort (SMC), another skeletal dysplasia, is also caused by non-synonymous DYM variants. Methods and Results: In the current study, we examined a Pakistani consanguineous family with three affected members. Clinical features like spondyloepimetaphyseal dysplasia, indicative of characteristic skeletal abnormalities, and intellectual disability were observed. Our male patients had microcephaly and coarse facial features while the female patient did not represent microcephaly or abnormal facies, which are significant features of DMC patients. Sanger sequencing identified a novel homozygous frameshift insertion (c.95_96insT, p.W33Lfs*14) in DYM, which likely leads to nonsense-mediated decay (NMD). Conclusion: The novel frameshift change verifies the fact that pathogenic variants in DYM are the most frequent cause of DMC.
Deep Brain Stimulation for Obsessive-Compulsive Disorder: Real World Experience Post-FDA-Humanitarian Use Device Approval
Authors: Lora Kahn, Brianne Sutton, Helena R Winston, Aviva Abosch, John A Thompson, Rachel A Davis
Journal: Front Psychiatry (2021)
Keywords: dbs programming, co-morbidity, deep brain stimulation, obsessive-compulsive disorder, psychiatric dbs

Background: While case series have established the efficacy of deep brain stimulation (DBS) in treating obsessive-compulsive disorder (OCD), it has been our experience that few OCD patients present without comorbidities that affect outcomes associated with DBS treatment. Here we present our experience with DBS therapy for OCD in patients who all have comorbid disease, together with the results of our programming strategies. Methods: For this case series, we assessed five patients who underwent ventral capsule/ventral striatum (VC/VS) DBS for OCD between 2015 and 2019 at the University of Colorado Hospital. Every patient in this cohort exhibited comorbidities, including substance use disorders, eating disorder, tic disorder, and autism spectrum disorder. We conducted an IRB-approved, retrospective study of programming modifications and treatment response over the course of DBS therapy. Results: In addition to patients' subjective reports of improvement, we observed significant improvement in the Yale-Brown Obsessive-Compulsive Scale (44%), the Montgomery-Asberg Depression Rating Scale (53%), the Quality of Life Enjoyment and Satisfaction Questionnaire (27%), and the Hamilton Anxiety Rating scales (34.9%) following DBS. With respect to co-morbid disease, there was a significant improvement in a patient with tic disorder's Total Tic Severity Score (TTSS) (p = 0.005). Conclusions: DBS remains an efficacious tool for the treatment of OCD, even in patients with significant comorbidities in whom DBS has not previously been investigated. Efficacious treatment results not only from the accurate placement of the electrodes by the surgeon but also from programming by the psychiatrist.
Acute liver failure associated with diffuse liver infiltration by metastatic breast carcinoma: A case report
Authors: Suchanan Hanamornroongruang, Napakorn Sangchay
Journal: Oncol Lett (2013)
Keywords: acute liver failure, diffuse parenchymal metastasis, hepatic infiltration, liver metastasis, metastatic breast cancer

Diffuse parenchymal metastasis is an unusual pattern of liver metastasis that is capable of causing liver failure. In the present study, the authors describe malignant infiltration of the liver by primary breast carcinoma in an autopsy of a 49-year-old female who had a rapid onset of liver failure and died after three weeks. Ultrasonography and computed tomography (CT) scans of the abdomen, as well as macroscopic examination, failed to detect liver metastasis; while microscopic examination revealed diffuse tumor cells with a loss of E-cadherin expression infiltrating into the liver parenchyma. The prognosis of liver failure associated with malignant infiltration is extremely poor; the survival time of patients is extremely low. Liver biopsy may be the most efficient technique for confirming the diagnosis during the patient's life.
Sarcoidosis and Its Splenic Wonder: A Rare Case of Isolated Splenic Sarcoidosis
Authors: Khushali Jhaveri, Abhay Vakil, Salim R Surani
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

Sarcoidosis is a systemic granulomatous disease of unknown etiology characterized by presence of noncaseating granulomas in the involved organs. The pulmonary interstitium is most commonly affected but extrapulmonary involvement can occur in almost any other organ system. Such an involvement can occur with or without the presence of pulmonary involvement, but isolated extrapulmonary involvement has been noted only in around 10% of cases. Isolated splenomegaly is very rare and an uncommon presentation of sarcoidosis. It is clinically challenging because of the extensive differential diagnosis. Among the many considerations are hematologic malignancies, primary splenic or metastatic tumors, infiltrative disorders, inflammatory disorders, and infections. We hereby discuss an interesting case of a 40-year-old female with isolated splenic sarcoidosis.