OpenMed/multicare-articles huggingface dataset:
Stevens-Johnson Syndrome Caused by Enzalutamide: A Case Report and Literature Review
Authors: Min Deng, Huirong Chai, Meng Yang, Xueman Wei, Wenjun Zhang, Xuebin Wang, Juanjuan Li, Zhuo Wang, Haitao Chen
Journal: Front Oncol (2021)
Keywords: stevens-johnson syndrome, cutaneous adverse events, drug eruption, enzalutamide, prostate cancer
MeSH terms: Case Reports

Objective:
Enzalutamide is the most frequently prescribed compound for treating metastatic castration-resistant prostate cancer (mCRPC). Common adverse drug events of enzalutamide are febrile neutropenia, hot flashes, hypertension, and fatigue.
Methods:
We present a case of a patient with mCRPC who received enzalutamide and developed Stevens-Johnson syndrome (SJS). The culprit drug was confirmed using the Naranjo Adverse Drug Reaction Probability Scale. Clinical characteristics and management principles were analyzed in combination with literature reports.
Results:
SJS occurred within two weeks of enzalutamide therapy. Supportive care such as steroid treatment led to a complete resolution of skin lesions and improved clinical symptoms after three weeks.
Conclusion:
Most cutaneous adverse events occur early during enzalutamide therapy, and close observation should be given within two weeks of starting treatment.
Congenital surfactant protein B (SP-B) deficiency: a case report
Authors: Fatma Khalsi, Maha Chaabene, Manel Ben Romdhane, Ines Trabelsi, Samia Hamouda, Alix de Becdelièvre, Khedija Boussetta
Journal: Pan Afr Med J (2023)
Keywords: sp-b deficiency, case report, genetics, lung disease, neonatal respiratory distress
MeSH terms: Respiratory Distress Syndrome, Newborn / etiology, Case Reports, DNA, Female, Humans, Infant, Infant, Newborn, Surface-Active Agents, IgA receptor, Surface-Active Agents, DNA, Congenital Deficiency of Pulmonary Surfactant Protein B

The incapacity to synthesize certain components of pulmonary surfactant causes a heterogeneous group of rare respiratory diseases called genetic disorders of surfactant dysfunction. We report a female full-term infant with neonatal respiratory distress of early onset due to inherited SP-B deficiency. The infant failed oxygen weaning at multiple trials. Chest computed tomography was performed on the 29th day of life revealing ground-glass opacities, regular interlobular septal thickening and fine interlobular reticulations. Analysis of genomic DNA showed homozygosity for an extremely rare SFTPB gene variant (c.620A>G, p.Tyr207Cys). Both parents were heterozygotes for the mutation. The diagnosis of congenital SP-B deficiency should be suspected whenever an early and acute respiratory failure in a term or near-term infant does not resolve after five days of age: diagnostic confirmation can be easily and rapidly obtained with the analysis of genomic DNA.
Case report: Mycobacterium neoaurum infection during ICI therapy in a hepatocellular carcinoma patient with psoriasis
Authors: Ling Pang, Zhongju Chen, Dong Xu, Weiting Cheng
Journal: Front Immunol (2022)
Keywords: case report, hepatocellular carcinoma, immune checkpoint inhibitor (ici), mycobacterium neoaurum infection, psoriasis
MeSH terms: Carcinoma, Hepatocellular / complications, Carcinoma, Hepatocellular / drug therapy, Liver Neoplasms / complications, Liver Neoplasms / drug therapy, Mycobacterium Infections / complications, Mycobacterium Infections / diagnosis, Mycobacterium Infections / drug therapy, Psoriasis / complications, Psoriasis / drug therapy, Case Reports, Humans, Mycobacteriaceae, Mycolicibacterium neoaurum

We report here a patient with advanced hepatocellular carcinoma (HCC) and psoriasis treated with immune checkpoint inhibitor (ICI) therapy who experienced tumor partial response and psoriatic exacerbation. Meanwhile, the patient contracted mycobacterium neoaurum during the treatment period, while it was an opportunistic infection and mainly happened in immunosuppressed patients. We discussed the possibility that this infection was an ICI-associated infection independent of immunosuppression due to dysregulated immunity, which was the result of the effects of immunotherapy and autoimmune disease (AID), and the characteristics and treatment of M. neoaurum, which was rarely reported in China. This case highlights the fact that some infections can be precipitated by ICIs in the absence of immunosuppressive treatment, especially the patients with AID.
Case Report: A Case of Hereditary Gingival Fibromatosis With a High Level of Human β Defensins in Gingival Epithelium
Authors: Ge Gao, Qing Tian, Anpeng Han, Rongxia Yang, Fan Shi, Dong Chen
Journal: Front Immunol (2021)
Keywords: case report, clinical manifestation, human β-defensins, non-syndromic hereditary gingival fibromatosis, oral defense
MeSH terms: Fibromatosis, Gingival / immunology, Gingiva / immunology, beta-Defensins / analysis, Case Reports, Research Support, Non-U.S. Gov't, Adult, Epithelium / immunology, Female, Humans, beta-Defensins, Fibromatosis, Gingival, Hereditary

Hereditary gingival fibromatosis [HGF, (MIM 135300)], a rare benign oral condition, has several adverse consequences such as aesthetic changes, malocclusion, speech impediments, and abnormal dentition. However, relatively few studies have addressed the beneficial effects of thick gingival tissues in resisting external stimuli. In this report, we present a unique case of a family affected by HGF that manifests as a 'healthy' gingiva. Human β-defensins (hBDs) are known to play a pivotal role in the clearance and killing of various microbes, and contribute to maintaining a healthy oral environment, which is currently emerging research area. However, the expression pattern and localisation of hBDs in patients with HGF have not yet been reported. hBD-2 and hBD-3 in the pedigree we collected had relatively elevated expression. High hBD levels in the gingival tissue of patients from the family may be beneficial in protecting oral tissue from external stimuli and promoting periodontal regeneration, but their role and the mechanisms underlying HGF need to be clarified.
Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene
Authors: Valerio Pazienza, Annamaria la Torre, Filomena Baorda, Michela Alfarano, Massimiliano Chetta, Lucia Anna Muscarella, Claudia Battista, Massimiliano Copetti, Dieter Kotzot, Klaus Kapelari, Dalia Al-Abdulrazzaq, Kusiel Perlman, Etienne Sochett, David E C Cole, Fabio Pellegrini, Lucie Canaff, Geoffrey N Hendy, Leonardo D'Agruma, Leopoldo Zelante, Massimo Carella, Alfredo Scillitani, Vito Guarnieri
Journal: PLoS One (2013)
MeSH terms: Germ-Line Mutation, Hyperparathyroidism, Primary / genetics, Neoplasm Proteins / genetics, Nuclear Localization Signals / genetics, Tumor Suppressor Proteins / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Child, Cytoplasm / genetics, Cytoplasm / metabolism, Female, Fibroma, Ossifying / genetics, Fibroma, Ossifying / metabolism, Fibroma, Ossifying / pathology, HEK293 Cells, Humans, Hyperparathyroidism, Primary / metabolism, Hyperparathyroidism, Primary / pathology, Jaw Neoplasms / genetics, Jaw Neoplasms / metabolism, Jaw Neoplasms / pathology, Male, Middle Aged, Neoplasm Proteins / metabolism, Nuclear Localization Signals / metabolism, Protein Transport / genetics, Tumor Suppressor Proteins / metabolism, CDC73 protein, human, Neoplasm Proteins, Nuclear Localization Signals, Tumor Suppressor Proteins

Hyperparathyroidism Jaw-Tumour Syndrome (HPT-JT) is characterized by primary hyperparathyroidism (PHPT), maxillary/mandible ossifying fibromas and by parathyroid carcinoma in 15% of cases. Inactivating mutations of the tumour suppressor CDC73/HRPT2 gene have been found in HPT-JT patients and also as genetic determinants of sporadic parathyroid carcinoma/atypical adenomas and, rarely, typical adenomas, in familial PHPT. Here we report the genetic and molecular analysis of the CDC73/HRPT2 gene in three patients affected by PHPT due to atypical and typical parathyroid adenomas, in one case belonging to familial PHPT. Flag-tagged WT and mutant CDC73/HRPT2 proteins were transiently transfected in HEK293 cells and functional assays were performed in order to investigate the effect of the variants on the whole protein expression, nuclear localization and cell overgrowth induction. We identified four CDC73/HRPT2 gene mutations, three germline (c.679_680delAG, p.Val85_Val86del and p.Glu81_Pro84del), one somatic (p.Arg77Pro). In three cases the mutation was located within the Nucleolar Localisation Signals (NoLS). The three NoLS variants led to instability either of the corresponding mutated protein or mRNA or both. When transfected in HEK293 cells, NoLS mutated proteins mislocalized with a predeliction for cytoplasmic or nucleo-cytoplasmic localization and, finally, they resulted in overgrowth, consistent with a dominant negative interfering effect in the presence of the endogenous protein.
Pediatric isoniazid-resistant tuberculosis of the bone marrow manifesting as hemophagocytic syndrome: A case report
Authors: Junfeng Zheng, Yongbin Xu, Jun Yang, Ke Cao, Guofang Deng, Peize Zhang
Journal: Front Pediatr (2022)
Keywords: bone marrow tuberculosis, child, hemophagocytic syndrome, isoniazid-resistant, tuberculosis
MeSH terms: Case Reports

Hemophagocytic syndrome (HPS) is a critical syndrome of ineffective hyperinflammatory immune response resulting in infiltration of lymphocytes and histiocytes in various organs. Causes can be hereditary or due to malignancy, autoimmune disease, or infection. HPS due to Mycobacterium tuberculosis is rare as only a handful of cases are reported, and they are mostly associated with severe disseminated tuberculosis (TB). We reported a 9-year-old boy with tuberculosis of the bone marrow accompanied with hemophagocytic syndrome. The patient presented with manifestation of HPS and had no respiratory symptoms or risk factors for TB but was later diagnosed of isoniazid-resistant TB in the bone marrow. He had a good outcome after receiving anti-TB drugs and corticosteroids on time. This case highlights that bone marrow might be a shelter for Mycobacterium tuberculosis. Concurrent testing for drug susceptibility in TB cases with an uncommon manifestation is recommended even for first episodes. Early diagnosis and etiological confirmation of the infection origin and appropriate treatment are essential to improve survival in this otherwise life-threatening condition.
Endometriosis of the Inguinal Canal Mimicking a Hydrocele of the Canal of Nuck
Authors: Oshan Basnayake, Umesh Jayarajah, Sanjeewa Anuruddha Seneviratne
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Isolated presentation of endometriosis of the inguinal canal is infrequent, and the clinical and imaging findings may be misleading in such patients. We describe an otherwise healthy female with isolated inguinal endometriosis presenting as a hydrocele of the canal of Nuck. Surgeons should consider such unusual presentations and obtain imaging and histological evaluations in doubtful instances. Complete excision was curative in our patient with no evidence of recurrence.
Intestinal intussusception of Meckel's diverticulum, a case report and literature review of the last five years
Authors: Dora Sandoval Schaedlich, Pedro Custodio de Mello Borges, Arnaldo Lacombe, Renato Alonso Moron
Journal: Einstein (Sao Paulo) (2023)
MeSH terms: Intestinal Obstruction / diagnostic imaging, Intestinal Obstruction / etiology, Intestinal Obstruction / surgery, Intussusception / diagnostic imaging, Intussusception / etiology, Intussusception / surgery, Meckel Diverticulum / complications, Meckel Diverticulum / diagnostic imaging, Meckel Diverticulum / surgery, Review, Case Reports, Abdominal Pain / diagnostic imaging, Abdominal Pain / etiology, Adult, Diagnosis, Differential, Female, Humans, Young Adult

Meckel's diverticulum is the most common gastrointestinal tract anomaly. It arises from the incomplete closure of the omphalomesenteric conduit, which is a true diverticulum at the antimesenteric border of the ileum. Although the majority of patients are asymptomatic, they can present with inflammation, hemorrhage, intussusception, intestinal obstruction, and perforation, among others; this constitutes an important differential diagnosis for acute abdomen. A 19-year-old female sought medical attention because of intermittent diffuse abdominal pain for two months, nausea, and diarrhea. In the requested imaging tests, tomography, and enterotomography, a diagnosis of Meckel's diverticulum with some degree of intussusception was suggested. The patient underwent elective surgical treatment without complications and was discharged on the second postoperative day with clinical improvement. In this section, we review publications on similar cases published in the last five years.
Clinical case seminar: unraveling the mystery of abnormal thyroid function tests
Authors: Ariel Barkan, Ronald J Koenig
Journal: Clin Diabetes Endocrinol (2015)
MeSH terms: Case Reports

A 53 year old woman was referred to us because of large goiter, enlarged pituitary and grossly elevated TSH and free T4. The differential diagnosis included a TSH producing adenoma vs. artifactual laboratory tests. A careful step-by step analysis of different possibilities allowed correct diagnosis and treatment.
Molecular Characteristics of Genes and the Immune Microenvironment of a Rare Chest Malignant Tumor (Pulmonary Clear Cell Sarcoma): A Case Report
Authors: Xiaoling Xu, Ding Wang, Wei Wu, Hongyang Lu
Journal: Front Oncol (2021)
Keywords: ews-atf1, pd-l1, tigit, clear cell sarcoma, lung, next-generation sequencing
MeSH terms: Case Reports

Pulmonary clear cell sarcoma is a rare malignant tumor that has rarely been reported and is challenging to diagnose, especially when differentiating from malignant melanoma. Currently, EWSR1-ATF1 is the key marker for distinguishing clear cell sarcoma from melanoma, but IHC has diagnostic limitations. We report a patient diagnosed with pulmonary clear cell sarcoma, in which an NGS was used to help with the pathological diagnosis. The exposure to the immune microenvironment in pulmonary clear cell sarcoma suggests that TIGIT-related drugs may be a new and effective treatment for this rare disease. Immune microenvironment-related markers, including PD-L1, CD8, TIM3, LAG3, and CD163, were negatively expressed in pulmonary clear cell sarcoma.
The Sudden Development of Multi-Organ Lesions in a Patient With Pulmonary Sarcoidosis: A Case Report
Authors: Mohamed A Abdallah, Moataz Ellithi, Rakshya Sharma, Arwyn Cunningham, Hamza Tantoush
Journal: J Investig Med High Impact Case Rep (2019)
Keywords: bone sarcoidosis, granulomatous disease, hepatic sarcoidosis, sarcoidosis, systemic sarcoidosis
MeSH terms: Bone Diseases / pathology, Granuloma / pathology, Liver Diseases / pathology, Lymphadenopathy / pathology, Sarcoidosis, Pulmonary / pathology, Case Reports, Adult, Biopsy, Bone Diseases / complications, Granuloma / complications, Humans, Liver Diseases / complications, Lymphadenopathy / complications, Male, Organ Specificity, Positron-Emission Tomography, Sarcoidosis, Pulmonary / complications

Introduction:
Sarcoidosis is a systemic granulomatous inflammatory disease that can involve almost any organ system in the human body. It most frequently presents with pulmonary infiltrates, hilar lymphadenopathy, and skin lesions. Clinical and subclinical involvement of other organ systems is not uncommon. However, the simultaneous development of clinically apparent multisystem sarcoidosis is very rare.
Case description:
This 44-year-old Caucasian man presented to an outpatient clinic with a 2-month history of fatigue, night sweats, weight loss, loss of appetite, and mild abdominal discomfort. Initial laboratory finding showed elevated liver enzymes. Imaging studies revealed cirrhotic liver with steatosis, few enhancing hepatic masses, and multiple enlarged periaortic and portocaval lymph nodes. Liver biopsy revealed scattered necrotizing granulomatous hepatitis. Positron emission tomography scan showed extensive hepatic uptake, diffuse lymphadenopathy, as well as numerous fluorodeoxyglucose-avid osseous lesions. After extensive workup to rule out malignancy and infectious etiologies, a diagnosis of diffuse multi-organ sarcoidosis was made. He was ultimately treated with methotrexate and steroids, resulting in marked improvement in symptoms and liver function, with stable disease on repeat imaging.
Conclusion:
Diffuse multi-organ sarcoidosis is often associated with widespread lymphadenopathy and osseous lesions, which appear indistinguishable from malignancy on imaging. The angiotensin converting enzyme levels and inflammatory markers may be normal. Clinicians should be aware of the possibility of diffuse systemic sarcoidosis in any patient with a remote sarcoidosis history and the simultaneous development of multi-organ-related symptoms.
Tonsillitis caused by vomiting in a patient with bulimia nervosa: a case report and literature review
Authors: Miles Bannister
Journal: Case Rep Otolaryngol (2013)

A 32-year-old lady presented to our ENT service with worsening tonsillitis. This was one of multiple attacks; all of which had all followed periods of self-induced vomiting due to the patient suffering with bulimia nervosa. Here we present the first ever case report of such a case of tonsillitis and a review of the literature of otolaryngology manifestations and complications of bulimia nervosa.
Case Report: A case of PLA2G6 gene-related early-onset Parkinson's disease and review of literature
Authors: Lili Gao, Chunlan Shi, Qing Lin, Yujing Wu, Liqi Hu, Mingwang Wang, Jianhua Guan, Sheng Lin, Yuansheng Liao, Chenghan Wu
Journal: Front Neurosci (2022)
Keywords: eopd, park14, pd, pla2g6, case report, heterozygous mutation
MeSH terms: Case Reports

Background:
Early onset Parkinson's disease (EOPD) is a neurodegenerative disease associated with the action ofto genetic factors. A mutated phospholipase A2 type VI gene (PLA2G6) is considered to be one of pathogenic genes involved in EOPD development. Although EOPD caused by a mutated PLA2G6 has been recorded in major databases, not all mutant genotypes have been reported. Here, we report a case of PLA2G6-related EOPD caused by a novel compound heterozygous mutation.
Case presentation:
The case was an of 26-year-old young male with a 2-year course of disease. The onset of the disease was insidious and developed gradually. The patient presented with unsteady walking, bradykinesia, unresponsiveness, and decreased facial expression. Auxiliary examination showed a compound heterozygous mutation of the PLA2G6gene with c.991G > T and c.1427 + 1G > A. Mild atrophy of the cerebrum and cerebellum was detected on brain MRI. The patient was diagnosed with EOPD. We administered treatment with Madopar, which was effective. After a two-year disease course, we observed progression to stage 5 according to the Hoehn-Yahr Scale (without medicine in the off-stage). An MDS-UPDRS III score of 62 was obtained, with characteristics of severe disease and rapid progress. The diagnosis was an EOPD phenotype caused by a combination of mutations at the c.991G > T and c.1427 + 1G > A sites of the PLA2G6gene.
Conclusion:
After active treatment, the disease was set under control, with no significant progression during the three-month follow-up period. Dyskinesia did not recur after reducing the Madopar dose. The freezing sign was slightly decreased and the wearing-off was delayed to 2 h.
A Giant Compressive Mesenteric Lipoblastoma Initially Suspected to Be Abdominal Malignancy: A Report of a Rare Case in a Nine-Month-Old Infant
Authors: Rita Cempaka S, Lina Choridah, Vincent Lau, Andrew Nobiantoro Gunawan, Vincent Laiman, Bambang Ardianto, Didik S Heriyanto
Journal: Cureus (2023)
Keywords: compressive, lipoblastoma, malignancy, mesenteric, paediatric oncology, soft tissue pathology
MeSH terms: Case Reports

Lipoblastoma is a rare benign soft tissue neoplasm rising from embryonic white adipose tissue known as lipoblast that keeps proliferating during the postnatal period. Although lipoblastomas are benign, they often grow rapidly. Most lipoblastomas are asymptomatic at presentation; they can present as a growing painless palpable mass and progressive symptoms of various organ compression depending on localization. A giant mesenteric lipoblastoma is a rare case with only a few cases reported. An infant with large intraabdominal masses may present preoperative diagnostic difficulties. Differential diagnoses are broad and may include sarcomas, germ-cell tumors, lipomas, lymphomas, hepatoblastomas, Wilm's tumors, and neuroblastomas. Thorough clinical, radiological, and pathological investigations are ultimately required to obtain a definitive diagnosis. Regardless of location, the treatment of choice for lipoblastoma is complete surgical resection. All patients should be followed up for a minimum of five years We report a rare case of a giant compressive mesenteric lipoblastoma that was initially suspected as abdominal malignancy in a nine-month-old infant. As physicians, we must always consider the underlying cause as well as the malignant or benign nature of a growing mass to treat the patient appropriately.
Giant Gastric Bezoar Complicating Congenital Esophageal Atresia Repaired by Gastric Interposition-A Case Report
Authors: Archana Chacko, Brent I Masters, Alan Isles
Journal: Front Pediatr (2017)
Keywords: bezoars, delayed gastric emptying, esophageal atresia, gastric interposition surgery, phytobezoar
MeSH terms: Case Reports

We describe a giant gastric phytobezoar in a child with repaired congenital esophageal atresia. At age two, a gastric interposition (pull-up) procedure was performed for severe and recurrent esophageal strictures. For 12 months post-gastric interposition, he experienced frequent respiratory illnesses requiring hospital admissions but it was not initially appreciated that these episodes were likely secondary to recurrent aspiration from a gastric bezoar with "spill-over" aspiration.
A patient with solid gynecologic cancer causing lactic acidosis, severe hypercalcemia, and hypoglycemia
Authors: John Hausken, Ellen M Haave, Håkon Haugaa, Else M Løberg, Ulf E Kongsgaard
Journal: Clin Case Rep (2018)
Keywords: cervical squamous cell carcinoma, hypercalcemia, hypoglycemia, insulin‐like growth factor, lactic acidosis, non–islet‐cell tumor hypoglycemia, paraneoplastic syndrome
MeSH terms: Case Reports

Though rare in cervical cancer patients, paraneoplastic syndrome usually presents with several endocrine and hormonal symptoms. Knowledge of the pathophysiology that underlies these abnormalities is beneficial to diagnosis and treatment. An interdisciplinary approach and test analysis prior to initiating specific treatment is recommended, though prognosis appears poor in advanced cases.