OpenMed/multicare-articles huggingface dataset:
Amlodipine rescues advanced iron overload cardiomyopathy in hemojuvelin knockout murine model: Clinical implications
Authors: Pavel Zhabyeyev, Chandu Sadasivan, Saumya Shah, Faqi Wang, Gavin Y Oudit
Journal: Front Cardiovasc Med (2023)
Keywords: calcium channel blockers, cardiomyopathy, hemochromatosis, hemojuvelin, iron overload

Background:
Iron overload cardiomyopathy (IOC) is a major co-morbidity of genetic hemochromatosis and secondary iron overload with limited therapeutic options. We aim to investigate mechanisms of rescue action of amlodipine in the murine model of iron overload, characterize changes in human cardiac tissue due to IOC, and compare them to the changes in the animal model of IOC.
Methods and results:
As an animal model, we used male hemojuvelin knockout (HJVKO) mice, which lacked hemojuvelin (a co-receptor protein for hepcidin expression). The mice were fed a high-iron diet from 4 weeks to 1 year of age. As a rescue, iron-fed mice received the Ca2+ channel blocker, amlodipine, from 9 to 12 months. Iron overload resulted in systolic and diastolic dysfunctions and changes in the cardiac tissue similar to the changes in the explanted human heart with IOC. An IOC patient (β-thalassemia) with left-ventricular ejection fraction (LVEF) 25% underwent heart transplantation. The murine model and the explanted heart showed intra-myocyte iron deposition, fibrosis, hypertrophy, oxidative stress, remodeling of Ca2+ cycling proteins, and metabolic kinases typical of heart failure. Single-myocyte contractility and Ca2+ release were diminished in the murine model. The amlodipine-treated group exhibited normalization of cellular function and reversed fibrosis, hypertrophy, oxidative stress, and metabolic remodeling. We also report a clinical case of primary hemochromatosis successfully treated with amlodipine.
Conclusions:
The aged HJVKO murine model on the iron-rich diet reproduced many features of the human case of IOC. The use of amlodipine in the murine model and clinical case reversed IOC remodeling, demonstrating that amlodipine is effective adjuvant therapy for IOC.
Our experience in two cases of type IV laryngotracheoesophageal cleft (LTEC) with a diagnosis of antenatal esophageal atresia
Authors: Kaan Sonmez, Ramazan Karabulut, Zafer Turkyilmaz, Canan Turkyilmaz, Berrin Isik, Sibel Eryilmaz, Kıvanc Seref, Ebru Ozcan, Gul Meral Hosgoren, Abdullah Can Basaklar
Journal: Pan Afr Med J (2017)
Keywords: type iv laryngotracheoesophageal cleft, anterior cervicothoracic approach, treatment
MeSH terms: Congenital Abnormalities / pathology, Esophageal Atresia / pathology, Larynx / abnormalities, Tracheoesophageal Fistula / pathology, Case Reports, Congenital Abnormalities / surgery, Esophageal Atresia / surgery, Humans, Infant, Newborn, Larynx / pathology, Larynx / surgery, Male, Tracheoesophageal Fistula / congenital, Tracheoesophageal Fistula / surgery, Laryngeal cleft

Laryngotracheoesophageal clefts (LTECs) are rare congenital defects that are often accompanied by additional anomalies. The major issues in the treatment of these patients are intraoperative exposure insufficiency, technical difficulty of the operation, and anesthesia problems originating from the respiratory tract. Problems originating from mechanical ventilation and respiratory tract, eating disorders and relapse of fistula are among the problems encountered following surgery. Most of the time, concomitant additional anomalies also worsen the clinical picture. It was our aim with these case reports to report our experience in two cases with Type IV LTEC ranging from the inoperable type IV LTEC due to additional anomalies mounted up to severe respiratory distress to the carina that we operated on with a single stage anterior cervicothoracic approach on its fifth day on life.
Effects of Low-Load Blood-Flow Restricted Resistance Training on Functional Capacity and Patient-Reported Outcome in a Young Male Suffering From Reactive Arthritis
Authors: Stian Langgård Jørgensen, Inger Mechlenburg
Journal: Front Sports Act Living (2021)
Keywords: exercise training, muscle, muscle venous occlusion, physical therapy, rehabilitation, venous occlusion

Introduction: Reactive arthritis (ReA) is a chronic inflammatory disease usually caused by a preceding gastrointestinal or genitourinary bacterial infection. ReA usually occurs in the lower limbs causing joint pain and joint swelling. Physiotherapy-led exercise is recommended to prevent muscle atrophy. The purpose of this case report is to describe the outcome after 12 weeks of low-load blood flow restricted resistance training (BFR-RT) as a rehabilitation method for a young male suffering from ReA. Methods and materials: A 17-year-old male suffered from ReA in the both knee joints and the left hip joint. 36 months after the incident, he suffered from another ReA incident in his right knee. Non-steroid anti-inflammatory drugs and a new arthrocentesis added with corticosteroid injection was unsuccessful in treating the ReA. The patient performed 12 weeks of BFR-RT on the right lower limb with a low amount of supervision after the first week of training. Assessment of unilateral 30-sec chair stand test (u30-sec CST), low-thigh circumference above apex patella, The Knee Injury and Osteoarthritis Outcome Score (KOOS), The Forgotten Knee Joint Score (FJS), and Numeric Ranking Scale for pain (NRS) was performed at baseline and after 3,6,9, and 12 weeks of BFR-RT. Results: The patient completed all planned exercise sessions. u30-sec CST improved with 7 repetitions (reps) on the right limb and 5 reps on the left leg. Low-thigh circumference decreased 1.1 cm on the right leg and 1.0 on the left leg. KOOS symptoms, ADL, quality of life and FJS demonstrated a clinically relevant change on 10, 14 and 23 points. Conclusion: The present case study indicates that even with low amounts of supervision BFR-RT could increase functional performance, reduce knee joint swelling and improve key patient-reported outcome.
Aseptic Abscesses and Inflammatory Bowel Disease: Two Cases and Review of Literature
Authors: Natasha Bollegala, Rishad Khan, Michael A Scaffidi, Ahmed Al-Mazroui, Jenna Tessolini, Adrienne Showler, Errol Colak, Samir C Grover
Journal: Can J Gastroenterol Hepatol (2017)
MeSH terms: Abscess / etiology, Colitis, Ulcerative / complications, Inflammatory Bowel Diseases / complications, Splenic Diseases / etiology, Case Reports, Review, Abdominal Pain / etiology, Adult, Canada, Female, Fever / etiology, Humans, Male, Retrospective Studies, Weight Loss

Background. Aseptic abscesses (AA) are sterile lesions that represent an extraintestinal manifestation (EIM) of inflammatory bowel disease (IBD). Though Canada has the highest prevalence of IBD in the world, reports of IBD-associated AA are absent in Canada. This may represent a different IBD phenotype or underrecognition and underreporting. Purpose. To explore AA as a possible EIM of IBD and evaluate clinical and investigative findings among patients with IBD-associated AA. Methods. Retrospective chart and literature reviews were performed to find cases of IBD-associated AA at our institution and in the literature. Results. We identified 2 cases of IBD-associated AA in our institution. Both patients had ulcerative colitis and presented with fever, abdominal pain, and weight loss. Radiological workup and aspiration showed sterile splenic abscesses. The AA were unresponsive to antibiotics. One patient improved on corticosteroids and one underwent splenectomy. We retrieved 37 cases of IBD-associated AA from the literature. All patients showed no evidence of infection, failed to resolve with antibiotics, and, if attempted, improved on corticosteroids. Conclusions. Our cases are the first reported in Canada. They support literature which suggests AA as an EIM of IBD and may help increase recognition and reporting of this phenomenon.
Optimal Conservative Management Resolves Refractory Hypoxemia in Patient with Right Myocardial Infarction Complicated by PFO-Induced Shunting
Authors: Suryono, Naesilla, Pipiet Wulandari, Dwi Ariyanti, Aditha Satria Maulana, Narendra Wahyu Junior, Hazbina Fauqi Ramadhan
Journal: Methodist Debakey Cardiovasc J (2023)
Keywords: hypoxemia, patent foramen ovale, right ventricular infarction, right-to-left intracardiac shunt
MeSH terms: Foramen Ovale, Patent / complications, Foramen Ovale, Patent / diagnostic imaging, Foramen Ovale, Patent / therapy, Myocardial Infarction / complications, Case Reports, Conservative Treatment / adverse effects, Heart Ventricles, Humans, Hypoxia / diagnosis, Hypoxia / etiology, Hypoxia / therapy

Inferior myocardial infarction is often accompanied by infarction of the right ventricle (RV). Uncommon RV infarction cases with patent foramen ovale (PFO) shunt, leading to severe persistent hypoxemia even without any pulmonary embolism involvement and often requiring invasive intervention, have been documented previously. We report a patient with RV infarction and right-to-left shunt via PFO who improved with only early revascularization and optimal standard treatment. This condition may not necessitate any invasive intervention if it is treated and monitored per standard procedures. Clinicians should consider the possibility of a right-to-left shunt in patients with RV infarction and persistent hypoxemia to implement appropriate therapeutic interventions.
Identification of aberrant subvesical bile duct by using intraoperative fluorescent cholangiography: A case report
Authors: Toshimitsu Iwasaki, Yoshifumi Takeyama, Yuta Yoshida, Kohei Kawaguchi, Masataka Matsumoto, Takaaki Murase, Keiko Kamei, Atsushi Takebe, Ippei Matsumoto, Takuya Nakai
Journal: Int J Surg Case Rep (2019)
Keywords: cholecystectomy, ducts of luschka, intraoperative fluorescence cholangiography, subvesical bile duct

Introduction:
Aberrant subvesical bile ducts are rare structural anomaly located in the peri-hepatic gallbladder fossa. This duct poses the risk for intraoperative bile duct injury resulting in clinically relevant bile leakage.
Presentation of case:
Aberrant subvesical bile duct was detected by preoperative magnetic resonance cholangiopancreatography in a 52-year old woman with gallbladder polypoid tumor harboring the risk to be gallbladder cancer. During open cholecystectomy with full thickness dissection, the aberrant duct was identified by intraoperative fluorescent cholangiography (IFC), and dissected safely.
Discussion:
Aberrant subvesical bile ducts are mostly found unexpectedly as intra and/or postoperative bile leakage, and remain an important cause of bile duct injuries after laparoscopic cholecystectomy. IFC, which offers real-time imaging of biliary anatomy, has a potential to overcome these problems.
Conclusion:
We performed cholecystectomy by using IFC to identify the aberrant subvesical bile duct. To the best of our knowledge, this is the first report showing the fluorescence image of an aberrant subvesical bile duct in a state of nature.
A case report of severe pirimiphos-methyl intoxication: Clinical findings and cholinesterase status
Authors: Tobias Zellner, Christian Rabe, Jens von der Wellen-Pawlowski, Dagmar Hansen, Harald John, Franz Worek, Florian Eyer
Journal: Front Pharmacol (2022)
Keywords: atropine, cholinesterase, obidoxime, organophosphate, pesticide
MeSH terms: Case Reports

A 63-year-old male was admitted to a district hospital after ingesting ethanol and pirimiphos-methyl (PM) with suicidal intentions. History included alcoholic cirrhosis with alcoholism, adiposity, diabetes with cerebral microangiopathy, chronic renal insufficiency, heparin-induced thrombocytopenia, and status post necrotizing fasciitis. Emergency medical service reported an alert patient without signs of cholinergic crisis; activated charcoal and atropine were administered. Upon hospital arrival, he received fluid resuscitation, activated charcoal, and atropine. He was transferred to a toxicology unit the next day. On admission, he had no cholinergic signs (dry mucous membranes, warm skin, and mydriatic pupils) requiring small atropine doses (0.5 mg per hour). Four hours after admission, he developed bradycardia and respiratory distress, necessitating intubation. He received atropine by continuous infusion for 7 days (248 mg total) and obidoxime (bolus and continuous infusion). PM, pirimiphos-methyl-oxon (PMO), and phosphorylated tyrosine (Tyr) adducts derived from human serum albumin were analyzed in vivo. Cholinesterase status (acetylcholinesterase (AChE), butyrylcholinesterase (BChE), inhibitory activity of patient plasma and reactivatability, and phosphorylated BChE-derived nonapeptides) was measured in vivo. Obidoxime and atropine were monitored. PM and PMO were detectable, PM with maximum concentration ∼24 h post admission (p.a.) and PMO at ∼18 h p.a. Tyr adducts were detectable. AChE in vivo was suppressed on admission, increased continuously after starting obidoxime, and reached maximum activity after ∼30 h. AChE in vivo and reactivatability remained at the same level until the end of monitoring. BChE was already suppressed on admission; termination of the antidote treatment was possible after BChE had recovered to 1/5th of its normal value and extubation was possible after BChE had recovered to 2/5th. While a substantial part of BChE was already aged on admission, aging continued peaking at ∼24 h p.a. After initiating obidoxime treatment, plasma levels increased until obidoxime plasma levels reached a steady state. On admission, plasma atropine level was low; it increased with the start of the continuous infusion. Afterward, the level dropped to a steady state. The clinical course was characterized by bouts of pneumonia, necessitating re-intubation and prolonged ventilation, sepsis, delirium, and a peripheral neuropathy. After psychiatric evaluation, the patient was discharged to a neurological rehabilitation facility after 77 days of hospital care.
A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0
Authors: Ana Priscila Soggia, Maria Lúcia Correa-Giannella, Maria Angela Henriques Fortes, Ana Mercedes Cavaleiro Luna, Maria Adelaide Albergaria Pereira
Journal: BMC Med Genet (2010)
MeSH terms: Codon, Nonsense, Frameshift Mutation, Glycogen Storage Disease / genetics, Glycogen Synthase / genetics, Case Reports, Base Sequence, Blood Glucose / analysis, Child, Exons, Fasting, Female, Glycogen Storage Disease / diagnosis, Heterozygote, Humans, Insulin / analysis, Introns, Lactic Acid / analysis, Phenotype, Sequence Analysis, DNA, Blood Glucose, Codon, Nonsense, Insulin, Lactic Acid, Glycogen Synthase

Background:
Glycogen storage disease type 0 is an autosomal recessive disease presenting in infancy or early childhood and characterized by ketotic hypoglycemia after prolonged fasting and postprandial hyperglycemia and hyperlactatemia. Sixteen different mutations have been identified to date in the gene which encodes hepatic glycogen synthase, resulting in reduction of glycogen storage in the liver.
Case presentation:
Biochemical evaluation as well as direct sequencing of exons and exon-intron boundary regions of the GYS2 gene were performed in a patient presenting fasting hypoglycemia and postprandial hyperglycemia and her parents. The patient was found to be compound heterozygous for one previously reported nonsense mutation (c.736 C>T; R243X) and a novel frameshift mutation (966_967delGA/insC) which introduces a stop codon 21 aminoacids downstream from the site of the mutation that presumably leads to loss of 51% of the COOH-terminal part of the protein. The glycemia and lactatemia of the parents after an oral glucose tolerance test were evaluated to investigate a possible impact of the carrier status on the metabolic profile. The mother, who presented a positive family history of type 2 diabetes, was classified as glucose intolerant and the father, who did not exhibit metabolic changes after the glucose overload, had an antecedent history of hypoglycemia after moderate alcohol ingestion.
Conclusion:
The current results expand the spectrum of known mutations in GYS2 and suggest that haploinsufficiency could explain metabolic abnormalities in heterozygous carriers in presence of predisposing conditions.
Isolation of Leptospira kirschneri serovar Grippotyphosa from a red panda ( Ailurus fulgens) after antimicrobial therapy: Case report
Authors: Karen LeCount, Kami Fox, Tammy Anderson, Darrell O Bayles, Tod Stuber, Jessica Hicks, Linda K Schlater, Jarlath E Nally
Journal: Front Vet Sci (2023)
Keywords: ailurus fulgens, l kirschneri, leptospira, case report, leptospirosis, red panda, serovar grippotyphosa
MeSH terms: Case Reports

A 1-year-old female red panda started showing symptoms of illness, including lethargy, anorexia, abdominal discomfort, and vomiting, shortly after transfer to a new zoo. Serum was tested for leptospirosis using the microscopic agglutination test, and a titer of 1:25,600 to serogroup Grippotyphosa was detected. Antimicrobial treatment with doxycycline was initiated. After completion of treatment and resolution of clinical symptoms, a urine sample was collected to ensure clearance of leptospires and cessation of urinary shedding prior to co-housing with other red pandas. A repeat serum sample taken 13 days later had a lower titer of 1:6,400 to serogroup Grippotyphosa. A sample of the animal's urine was cultured in HAN media and was culture positive for Leptospira. The recovered isolate was completely characterized by whole genome sequencing and serotyping with reference antisera, and the isolate was classified as Leptospira kirschneri serogroup Grippotyphosa serovar Grippotyphosa strain RedPanda1.
Ischemic stroke on SARS-CoV2 vasculitis in a healthy young girl
Authors: Hortense Petat, Adnan Hassani, Ivana Dabaj, Lucile Tzaroukian, Barbara Goujard, Isabelle Michelet, Rebecca More
Journal: Health Sci Rep (2023)
Keywords: covid‐19, children stroke, infectious vasculitis
MeSH terms: Case Reports

Background and aims:
In France, we noted the fifth wave of SARS-CoV2 pandemic, characterized by presence of Omicron variant. This variant is very contagious, but less often aggressive, especially in pediatric population.
Methods:
We report a case of a 10-year-old girl, previously healthy, not yet vaccinated for SARS-CoV2, presented to our emergency department for left hemiparesis associated with headache and vomiting, without any signs of respiratory tract infection.
Results:
Cerebral CT and MRI showed an ischemic stroke of right sylvian artery. Magnetic resonance angiography performed upon resurgence of new symptoms was in favor of vasculitis on the right internal carotid and right sylvian artery. PCR SARS-CoV2 was positive for Omicron variant. She fully recovered after few days and was treated with acetylsalicylic acid and intravenous corticosteroids.
Conclusion:
We report this case to raise awareness on the possible complications related to SARS-CoV2 infection and we highly recommend vaccination in this age group.
A Case Report of Melanoma as Acute Mastoiditis in a 10-Month-Old Female Child
Authors: Konstantina Chrysouli, Michael Tsakanikos, Sofia Stamataki
Journal: Case Rep Otolaryngol (2019)
MeSH terms: Case Reports

We present a rare case of transplacental-transmitted maternal melanoma to the placenta and foetus during the pregnancy of a 34-year-old woman. She was diagnosed with a melanoma at the age of 25, for which she was treated with chemotherapy. During her pregnancy, she presented with a recurrence of the disease and died 3 months after delivery. The 10-month-old female child presented with a recurrent retroauricular oedema on the left side. A trephination of mastoid apophysis followed. Multiple fragments of dark-coloured tissue were sent for histological examination, and the immunophenotype showed a melanocytic tumour in the mastoid. A full radiological assessment showed no sign of metastasis. The child remained without treatment. Complete remission of bone metastatic lesion has been confirmed by follow-up; now, the child is 4 years old, alive, and without evidence of disease.
Case Report: Idiopathic Traumatic Neuroma of the Gallbladder Without Previous Surgery
Authors: Tianyu Lin, Abdul Saad Bissessur, Yingjie Zhu, Teruko Fukuyama, Guoping Ding, Liping Cao
Journal: Front Surg (2022)
Keywords: case report, cholangiocarcinoma, gallbladder neoplasm, idiopathic, traumatic neuroma
MeSH terms: Case Reports

Traumatic neuroma mostly results from nerve injury caused by surgery or trauma. Traumatic neuroma of the gallbladder without prior abdominal surgery is extremely rare, and we termed it "idiopathic traumatic neuroma of the gallbladder." Due to its rarity and a lack of specific clinical and radiological features, it is most commonly misdiagnosed. In our case, the patient was admitted to our hospital for cholangiocarcinoma. Repeated abdominal contrast-enhanced computed tomography scans preoperatively indicated hilar cholangiocarcinoma. Due to insufficient future liver remnant, we planned preoperative percutaneous transhepatic cholangiodrainage and percutaneous transhepatic portal vein embolization based on multidisciplinary team consultation. The patient was then admitted 1 month later for surgery. We performed a laparoscopic cholecystectomy and an extensive laparoscopic right hepatectomy as gallbladder carcinoma was strongly suspected intraoperatively. However, the final diagnosis was traumatic neuroma of the gallbladder confirmed by pathological examination. Traumatic neuroma of the gallbladder is very rare, and we hope to provide some references for diagnosis by reporting our case and reviewing the literature on this topic so that extensive treatment can be avoided, thus improving patients' quality of life. To the best of our knowledge, this is the first reported case of traumatic neuroma without prior surgery in the English literature since 1996.
Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature
Authors: Josefina Longeri Contreras, Mabel A Ladino, Katherine Aránguiz, Gonzalo P Mendez, Zeynep Coban-Akdemir, Bo Yuan, Richard A Gibbs, Lindsay C Burrage, James R Lupski, Ivan K Chinn, Tiphanie P Vogel, Jordan S Orange, M Cecilia Poli
Journal: Front Pediatr (2021)
Keywords: case report, hemophagocytic lymphohistiocytosis, immune mediated glomerulonephritis, lysinuric protein intolerance, systemic lupus erythematosus, systemic lupus–erythematosus
MeSH terms: Case Reports

Lysinuric protein intolerance (LPI) is an inborn error of metabolism caused by defective transport of cationic amino acids in epithelial cells of intestines, kidneys and other tissues as well as non-epithelial cells including macrophages. LPI is caused by biallelic, pathogenic variants in SLC7A7. The clinical phenotype of LPI includes failure to thrive and multi-system disease including hematologic, neurologic, pulmonary and renal manifestations. Individual presentations are extremely variable, often leading to misdiagnosis or delayed diagnosis. Here we describe a patient that clinically presented with immune dysregulation in the setting of early-onset systemic lupus erythematosus (SLE), including renal involvement, in whom an LPI diagnosis was suspected post-mortem based on exome sequencing analysis. A review of the literature was performed to provide an overview of the clinical spectrum and immune mechanisms involved in this disease. The precise mechanism by which ineffective amino acid transport triggers systemic inflammatory features is not yet understood. However, LPI should be considered in the differential diagnosis of early-onset SLE, particularly in the absence of response to immunosuppressive therapy.