OpenMed/multicare-articles huggingface dataset:
X-linked vitamin D-resistant rickets: 12 years of follow-up
Authors: Ahmed Anas Guerboub, Souad Moussaoui, Jad Issouani, Yassine Errahali, Ghizlaine Belmejdoub
Journal: Pan Afr Med J (2018)
Keywords: phex, x-linked hypophosphatemic rickets, fractures and deformities
MeSH terms: Familial Hypophosphatemic Rickets / physiopathology, Genetic Diseases, X-Linked / physiopathology, Vitamin D / administration & dosage, Case Reports, Adolescent, Child, Child, Preschool, Familial Hypophosphatemic Rickets / therapy, Follow-Up Studies, Genetic Diseases, X-Linked / therapy, Humans, Male, Vitamin D

Rickets are abnormalities of mineralization that can lead to bone fractures and deformities. Vitamin-resistant rickets is defined as any rickets not prevented by regular, early and prolonged administration of vitamin D and not cured by a sufficient total dose. The aim of our work is to describe the clinical, paraclinical and therapeutic aspects of X-linked hypophosphatemic rickets (XLHR), which is the most common cause of hereditary rickets and on the other hand to highlight the interest not only of the early care but also the regular long-term monitoring of these children.
Minute ampullary carcinoid tumor with lymph node metastases: a case report and review of literature
Authors: Eri Senda, Koji Fujimoto, Katsuhiro Ohnishi, Akihiro Higashida, Cho Ashida, Toshio Okutani, Shigeru Sakano, Masayuki Yamamoto, Rieko Ito, Hajime Yamada
Journal: World J Surg Oncol (2009)
MeSH terms: Ampulla of Vater, Carcinoid Tumor / secondary, Common Bile Duct Neoplasms / pathology, Case Reports, Biopsy, Carcinoid Tumor / surgery, Common Bile Duct Neoplasms / surgery, Female, Humans, Lymph Node Excision, Lymph Nodes / pathology, Lymph Nodes / surgery, Lymphatic Metastasis, Middle Aged, Tomography, X-Ray Computed

Background:
Carcinoid tumors are usually considered to have a low degree of malignancy and show slow progression. One of the factors indicating the malignancy of these tumors is their size, and small ampullary carcinoid tumors have been sometimes treated by endoscopic resection.
Case presentation:
We report a case of a 63-year-old woman with a minute ampullary carcinoid tumor that was 7 mm in diameter, but was associated with 2 peripancreatic lymph node metastases. Mild elevation of liver enzymes was found at her regular medical check-up. Computed tomography (CT) revealed a markedly dilated common bile duct (CBD) and two enlarged peripancreatic lymph nodes. Endoscopy showed that the ampulla was slightly enlarged by a submucosal tumor. The biopsy specimen revealed tumor cells that showed monotonous proliferation suggestive of a carcinoid tumor. She underwent a pylorus-preserving whipple resection with lymph node dissection. The resected lesion was a small submucosal tumor (7 mm in diameter) at the ampulla, with metastasis to 2 peripancreatic lymph nodes, and it was diagnosed as a malignant carcinoid tumor.
Conclusion:
Recently there have been some reports of endoscopic ampullectomy for small carcinoid tumors. However, this case suggests that attention should be paid to the possibility of lymph node metastases as well as that of regional infiltration of the tumor even for minute ampullary carcinoid tumors to provide the best chance for cure.
Limited dorsal myeloschisis with a contiguous stalk to human tail-like cutaneous appendage, associated with a lipoma of conus medullaris: A case report
Authors: Auricelio Batista Cezar-Junior, Igor Vilela Faquini, Kauê Frank, Luiz Euripedes Almondes S Lemos, Eduardo Vieira de Carvalho Junior, Nivaldo S Almeida, Hildo Rocha Cirne Azevedo-Filho
Journal: Int J Surg Case Rep (2020)
Keywords: cutaneous appendage, human tail, limited dorsal myeloschisis, lipoma
MeSH terms: Case Reports

Introduction:
Limited dorsal myeloschisis (LDM) is a recently described pathological entity, characterized by a defect of the closed focal neural tube and a fibroneural pedicle connecting the cutaneous lesion to the spinal cord.
Presentation of the case:
This case describes a 9-month-old child with a human tail and an underlying spinal dysraphism. This was represented by LDM stalk associated with a medullary lipoma, in connection with the dorsal cutaneous appendage. We also report the therapeutic proposal for this case and its clinical outcome.
Discussion:
LDM is a distinctive clinicopathological presentation of a spinal dysraphism, associated with numerous anomalies, such as lipomyelomeningocele, tethered cord, lipoma, congenital heart disease and teratoma. In this case, surgical treatment for LDM consists of surgical resection of the appendage, untethering of the spinal cord and resection of conus medullaris lipoma in the same procedure.
Conclusion:
In this case report, we share the experience of a referral service in pediatric neurosurgery regarding clinical and radiological diagnosis, and the successful treatment of this rare type of congenital malformation. Therefore, clinicians should be aware of possible morphological variations of the skin lesion associated with LDM.
Anti-immunoglobulin-like transcript 3 induced acute myocarditis-A case report
Authors: Osnat Itzhaki Ben Zadok, Arthur Shiyovich, Ashraf Hamdan, Moshe Yeshurun, Inbar Nardi Agmon, Pia Raanani, Ran Kornowski, Liat Shargian
Journal: Front Cardiovasc Med (2022)
Keywords: acute myocarditis, anti-ilt-3 induced myocarditis, cardio-oncology, case report, immunotherapy
MeSH terms: Case Reports

To the best of our knowledge, this is the first published report of anti-immunoglobulin-like transcript 3 (ILT3)-induced myocarditis. A 48-year old female patient with refractory acute myeloid leukemia who was given a single dose of anti-ILT3 monotherapy presented with fever, hypotension, chest pain, and elevated cardiac biomarkers. Systolic bi-ventricular function was in normal limits. The patient was promptly treated with pulse dose steroids with a rapid hemodynamic and clinical improvement and declining levels of cardiac biomarkers. The diagnosis of acute myocarditis was confirmed using cardiac magnetic resonance imaging applying the revised Lake Lewis criteria. While larger-scale data are needed in order to assess the incidence, management and prognosis of anti-ILT-3 induced myocarditis, we believe a high level of suspicion for adverse non-target cardiac effects is required in patients receiving this novel class of drugs.
Case Report: Difficulties in the Treatment of a 12-Year-Old Patient With Homozygous Familial Hypercholesterolemia, Compound Heterozygous Form - 5 Years Follow-Up
Authors: Lyudmila Vladimirova-Kitova, Spas Kitov, Mihail Ganev, Lubov Chochkova-Bukova
Journal: Front Cardiovasc Med (2021)
Keywords: covid-19, evolocumab, case report, child, homozygous familial hypercholesterolemia
MeSH terms: Case Reports

The literature review we conducted reveals the limited use of proprotein convertase subtilisin/kexin type 9-inhibitors (PCSK9i) in children with familial hypercholesterolemia (FH). In 2015, a 10-year-old boy presented with round, xanthochromic lesions on his right knee and elbow. The values of total and LDL-cholesterol (LDL-C)-18 and 15 mmol/l, respectively-along with normal triglycerides and HDL-cholesterol (HDL-C) confirmed the lesions were xanthomas. The data suggested a homozygous form of FH. The level of lipoprotein (a) was high: 270 mg/dl. Initial treatment, based on European recommendations, included Atorvastatin 20 mg and Ezetimibe 10 mg and led to a decrease in LDL-C by 46% for 5 months; however, the patient developed severe statin intolerance. Atorvastatin was replaced with Rosuvastatin 10 mg, but the symptoms persisted. Success was achieved by switching to an intermittent regimen: Rosuvastatin 10 mg three times a week with a daily intake of Ezetimibe 10 mg. However, the results were far from the desired LDL target. LDL-apheresis was advisable, but unfortunately, it is not performed in Bulgaria. In May 2017, a genetic analysis [two pathological mutations within the LDLR gene: c.1519A>G; p.(Lys507Glu) and c.2403_2406del; p.(Leu802Alafs*126)] confirmed the initial diagnosis: the patient had homozygous FH with compound heterozygosity indeed. Having turned 12 in September 2017, the patient was eligible for treatment with a PCSK9i: Evolocumab 140 mg. The mean reduction of LDL-C with the triple combination reached a reduction of 52.17% for the whole 2-year period. The LDL target was reached in January 2020. The triple therapy significantly reduced Apolipoprotein B by 29.16%. No statistically significant difference was found in Lp (a) levels (p > 0.05) Our clinical case demonstrates that the triple lipid-lowering combination in a patient with compound heterozygous FH is a good therapeutic option for reaching the LDL-target.
Interleukin-8 producing hepatocellular carcinoma with pyrexia
Authors: Norifumi Harimoto, Ken Shirabe, Tomoyuki Abe, Kiyoshi Kajiyama, Takashi Nagaie, Tomonobu Gion, Yousuke Kuroda, Yoshihiko Maehara
Journal: HPB Surg (2009)
MeSH terms: Carcinoma, Hepatocellular / metabolism, Interleukin-8 / biosynthesis, Liver Neoplasms / metabolism, Case Reports, C-Reactive Protein / metabolism, Carcinoma, Hepatocellular / diagnosis, Carcinoma, Hepatocellular / pathology, Carcinoma, Hepatocellular / surgery, Fatal Outcome, Fever / etiology, Humans, Immunohistochemistry, Liver Neoplasms / diagnosis, Liver Neoplasms / pathology, Liver Neoplasms / surgery, Male, Middle Aged, Neoplasm Invasiveness, Tomography, X-Ray Computed, Interleukin-8, C-Reactive Protein

We discuss a patient who had poorly differentiated HCC with pyrexia and high CRP in laboratory data, which are not commonly observed in the usual HCC. A 50-year-old man with a history of liver dysfunction was admitted with a chief complaint of a prolonged fever and general fatigue. Preoperative diagnosis was HCC with portal vein tumor thrombus. Posterior segmentectomy of the liver and thrombectomy was performed. Rapid tumor recurrence occurred after surgery, and he died 79 days after the operation. Immunohistochemical stain of HCC in this patient revealed the production of proinflammatory cytokine, interleukin-8 (IL-8). IL-8 production may have contributed to the high fever, high inflammatory reaction, and poor prognosis in this case.
Case series of the first three severe COVID-19 patients treated with the secretome of hypoxia-mesenchymal stem cells in Indonesia
Authors: Agung Putra, Agus Widyatmoko, Sugeng Ibrahim, Fajar Amansyah, Farid Amansyah, Mukti Arja Berlian, Retnaningsih Retnaningsih, Zenitalia Pasongka, Flora Eka Sari, Basuki Rachmad
Journal: F1000Res (2021)
Keywords: covid-19, mesenchymal stem cells, secretome
MeSH terms: COVID-19 / therapy, Mesenchymal Stem Cells, Case Reports, Research Support, Non-U.S. Gov't, Humans, Hypoxia, Indonesia, SARS-CoV-2, Secretome

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is responsible for the outbreak of coronavirus disease 2019 (COVID-19), which has been rapidly spreading. Several guideline therapies have been proposed as a possible treatment for SARS-CoV-2, however, these therapies are not sufficient to treat a severe condition of SARS-CoV-2 infection characterised by the increase of D-dimer and C-reactive protein (CRP) levels, and patchy ground-glass opacities (GGOs). Secretome-mesenchymal stem cells (S-MSCs) produced by MSCs under hypoxia could excessively release several anti-inflammatory cytokines and growth factors to control the COVID-19 cytokine storm and accelerate lung injury improvement. This is the first study investigating the clinical outcomes of three severe COVID-19 patients admitted to the intensive care unit of three different hospitals in Indonesia treated with S-MSCs. The decrease of D-dimer and CRP level was reported for all patients treated with S-MSCs. This was in line with improvement of pulmonary radiology, blood gas level, and hematologic assessment. In conclusion, these cases suggest that S-MSCs could effectively control D-dimer, CRP level and GGOs of severe COVID-19 patients associated with recovered pulmonary function.
A case report of necrotizing enterocolitis in a moderately preterm neonate with LCHADD-A call to focus on the basics while utilizing advanced new therapies
Authors: Marina Metzler, William Burns, Carly Mitchell, Stephanie Napolitano, Bimal P Chaudhari
Journal: Front Pediatr (2023)
Keywords: lchadd, human milk, necrotizing enterocolitis, preterm, triheptanoin
MeSH terms: Case Reports

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive condition of impaired beta-oxidation. Traditionally, treatment included restriction of dietary long-chain fatty acids via a low-fat diet and supplementation of medium chain triglycerides. In 2020, triheptanoin received FDA approval as an alternative source of medium chain fatty acids for individuals with long-chain fatty acid oxidation disorders (LC-FAOD). We present a case of a moderately preterm neonate born at 33 2/7 weeks gestational age with LCHADD who received triheptanoin and developed necrotizing enterocolitis (NEC). Prematurity is known as a major risk factor for NEC, with risk increasing with decreasing gestational age. To our knowledge, NEC has not previously been reported in patients with LCHADD or with triheptanoin use. While metabolic formula is part of the standard of care for LC-FAOD in early life, preterm neonates may benefit from more aggressive attempts to use skimmed human milk to minimize exposure to formula during the risk period for NEC during feed advancement. This risk period may be longer in neonates with LC-FAOD compared to otherwise healthy premature neonates.
Successful treatment of acute worsening complex regional pain syndrome in affected dominant right-hand from secondary pathology of new onset third and fourth digit trigger finger
Authors: Monika Patel, Michael Aiello
Journal: Case Reports Plast Surg Hand Surg (2022)
Keywords: crps, complex regional pain syndrome, stenosing tenosynovitis, tendon sheath injection, trigger finger
MeSH terms: Case Reports

65 year old male with preexisting Complex Regional Pain Syndrome (CRPS) in right dominant hand with sudden onset of right third and fourth digit trigger finger successfully treated with flexor tendon sheath corticosteroid and lidocaine injection resulting in long-term resolution of symptoms without causing widely believed aggravation of CRPS.
Case Report: Fatal Acute Liver Failure With Giant Cell Transformation in a Pediatric Patient Associated With MIS-C
Authors: Carolina Bonilla Gonzalez, Marcela Hincapié Echeverría, Rocio Plazas Pachón, Paola Mora Umaña, Berlly Lucia Diaz Gómez, Nathalie Gualdron Barreto
Journal: Front Pediatr (2022)
Keywords: mis-c, sars-cov-2, case report, cytokine storm, liver failure
MeSH terms: Case Reports

Background: We describe the first pediatric case of a 10-month-old boy with MIS-C who developed fulminant acute liver failure with associated giant cell transformation and a fatal outcome, after ruling out other infectious, metabolic, genetic, and autoimmune causes of liver failure following the usual algorithms for approaching the etiology. Although the patient received the main treatment strategies for liver failure, he had a fatal outcome. A clinical autopsy was considered as part of the diagnostic approach, which showed evidence of giant cell transformation.
Photosensitive Epilepsy and Polycystic Ovary Syndrome as Manifestations of MERRF
Authors: Josef Finsterer
Journal: Case Rep Neurol Med (2020)
MeSH terms: Case Reports

Objectives:
Although endocrinologic involvement and epilepsy are frequent features of myoclonic epilepsy with ragged-red fibers (MERRF), polycystic ovary syndrome (PCOS) and photosensitive epilepsy have not been reported. Case Report. A 32-year-old female was diagnosed with MERRF at age 19 y upon presence of the four canonical features and the variant m.8344A > G in MT-TK (tRNA (Lys)) (blood heteroplasmy rate: 50%). She experienced recurrent photosensitive focal and generalised seizures since age 19 y, which could be triggered by flickering light or by looking at small stones, leaves, or dirty snow on the ground. Since the last 42 months, she was seizure-free upon levetiracetam (4000 mg/d), clonazepam (1.5 mg/d), and topiramate (25 mg/d). Additionally, she suffered from secondary amenorrhoea since adolescence. She was married between ages 19 y and 25 y but did not get pregnant. PCOS was diagnosed and treated with desogestrel plus estradiol. Nonetheless, the course was progressive, particularly with regard to ataxia, myocloni, and myopathy.
Conclusions:
The phenotypic spectrum of MERRF is broader than anticipated and may additionally include PCOS and photosensitive epilepsy. PCOS in MERRF may respond to hormone substitution and photosensitive epilepsy to levetiracetam, clonazepam, and topiramate.
Percutaneous Transhepatic Bile Duct Ablation with n-Butyl Cyanoacrylate in the Treatment of a Biliary Complication after Split Liver Transplantation
Authors: Andrea Lauterio, Abdallah Slim, Paolo Aseni, Alessandro Giacomoni, Stefano Di Sandro, Rocco Corso, Iacopo Mangoni, Plamen Mihaylov, Mohammed Al Kofahi, Vincenzo Pirotta, Luciano De Carlis
Journal: J Transplant (2009)
MeSH terms: Case Reports

Biliary complications continue to be a major cause of morbidity after split-liver transplantation (SLT). In this report we describe an uncommon late biliary complication. One year after SLT the patient showed an intrahepatic bile dicy dilatation with severe cholangitis episodes. The segmentary bile duct of hepatic segment VI-VII draining in the left duct was unidentified and tied at the time of the in situ split-liver procedure. We perform a permanent obliteration of the dilated intrahepatic ducts by a percutaneous embolization using an n-butyl cyanoacrylate (NABC). The management of biliary complications after SLT requires a multidisciplinary approach. The use of NBCA in obliteration of a dilated bile duct seems to be a safe procedure with good results providing a less invasive option than hepatic resection and decreasing the morbidity associated with chronic external biliary drainage. Further studies are needed to determine whether this approach is effective and safe and whether it could reduce hospital stay and cost.
An Atypical Presentation with Diagnostic Challenge of a Large Cell Neuroendocrine Cancer of Lung: A Case Report and Review of the Literature
Authors: Pavan Kumar Bhamidipati, Amanda Ribbeck, Goldees Liaghati-Nasseri, Ramesh Kumar, Babu Paidipaty B, John Bartnik
Journal: Lung Cancer Int (2011)

Large-cell neuroendocrine carcinomas (LCNECs) are relatively rare and aggressive neoplasms of the lung with very poor prognosis. Even though they are included in the classification of nonsmall cell carcinomas, they have a biological behaviour and physiological response to treatment more like small cell carcinomas of lung. We report an atypical case presentation of LCNEC in a 51-year-old gentleman who presented with diffuse metastases to the thoracic and lumbar spine, brain, and liver, posing a diagnostic challenge. The primary small central lung tumor was in close proximity to major vessels, rendering a biopsy of the primary cancer challenging and nearly impossible. The final diagnosis was established through immunohistochemistry staining and examination of liver biopsy from a metastatic lesion. We also included a review of the current literature pertinent to LCNEC, as well as the important role of tumor markers plus immunohistochemistry profiles in determining the origin of unknown primary tumors in such difficult patient presentations.
An Unusual Cause of Acute Heart Failure: A Case Report of Iliocaval Venous Stent Migration
Authors: Sherif Elmahdy, Christian C Shults, Muhamad Alhaj Moustafa
Journal: J Investig Med High Impact Case Rep (2018)
Keywords: may-thurner syndrome, common iliac vein, heart failure, stent migration, tricuspid valve replacement

Stent migration is an uncommon complication of endovascular stenting procedures. It could cause serious cardiovascular complications. In this article, we describe an interesting case of acute heart failure as a result of stent embolization from the left common iliac vein into the right ventricle and how it was identified and managed.
Metagenomic Next-Generation Sequencing Can Clinch Diagnosis of Non-Tuberculous Mycobacterial Infections: A Case Report
Authors: He Zhu, Min Zhu, Jia-Hui Lei, Ya-Li Xiao, Li-Min Zhao
Journal: Front Med (Lausanne) (2021)
Keywords: case report, diagnosis, metagenomic next-generation sequencing, mycobacterium avium complex, non-tuberculous mycobacteria
MeSH terms: Case Reports

Non-tuberculou Mycobacteria (NTM) is ubiquitous in the environment and is conditional pathogen. Due to NTM and Mycobacterium tuberculosis belong to the genus Mycobacterium, their pathogenic mechanisms and clinical manifestations are similar. Therefore, NTM can cause tuberculosis-like lesions and lead to misdiagnosis. Early diagnosis and treatment greatly improve prognosis. However, traditional pathogenic microorganism detection has limitations, and it is difficult to accurately identify strains in clinical practice. Here, we report a 65-year-old man with NTM who presented with recurrent fever and cough. Computed tomography of the chest revealed a lung infection. The previous improper diagnosis and treatment did not improve his condition. With the aid of metagenomic next-generation sequencing, the pathogen was identified as Mycobacterium avium complex. Subsequently, he received accurate treatment and made significant improvements in clinical and radiology.
Early Detection of Legionella pneumophila and Aspergillus by mNGS in a Critically Ill Patient With Legionella Pneumonia After Extracorporeal Membrane Oxygenation Treatment: Case Report and Literature Review
Authors: Ruiming Yue, Xiaoxiao Wu, Tianlong Li, Li Chang, Xiaobo Huang, Lingai Pan
Journal: Front Med (Lausanne) (2021)
Keywords: ecmo, legionella, diagnosis, invasive pulmonary aspergillosis, mngs
MeSH terms: Review

Legionella pneumophila can cause pneumonia, leading to severe acute respiratory distress syndrome (ARDS). Because of its harsh growth requirements, limited detection methods, and non-specific clinical manifestations, diagnosing Legionella pneumonia remains still challenging. Metagenomic next-generation sequencing (mNGS) technology has increased the rate of detection of Legionella. This study describes a patient who rapidly progressed to severe ARDS during the early stage of infection and was treated with extracorporeal membrane oxygenation (ECMO). Although his bronchoalveolar lavage fluid (BALF) was negative for infection and his serum was negative for anti-Legionella antibody, mNGS of his BALF and blood showed only the presence of Legionella pneumophila (blood mNGS reads 229, BALF reads 656). After antibiotic treatment and weaning from ECMO, however, he developed a secondary Aspergillus and Klebsiella pneumoniae infection as shown by mNGS. Mechanical ventilation and antibiotic treatment were effective. A search of PubMed showed few reports of secondary Aspergillus infections after Legionella infection. Severe pneumonia caused by any type of pathogenic bacteria may be followed by Aspergillus infection, sometimes during extremely early stages of infection. Patients with severe pneumonia caused by Legionella infection should undergo early screening for secondary infections using methods such as mNGS, enabling early and precise treatment, thereby simplifying the use of antibiotics and improving patient prognosis.