OpenMed/multicare-articles huggingface dataset:
Case Report: Rare percutaneous coronary intervention for "right" main bifurcation
Authors: Po-Hsueh Su, Cheng-Yu Ko, Cheng-Han Lee
Journal: Front Cardiovasc Med (2023)
Keywords: ivus guided pci, congenital coronary anomalies, coronaries of anomalous origin, percutaneous coronary intervention, “right” main bifurcation
MeSH terms: Case Reports

We presented the case of a patient with non-ST-elevation myocardial infarction with coronary arteries of an anomalous origin, an interarterial course of the LMCA, a unique wide-angle "right" main bifurcation lesion, and a high SYNTAX score. Management with contemporary PCI and imaging may be an alternative to surgery.
Case report: A rare case of coexistence of low-grade appendiceal mucinous neoplasia and goblet cell adenocarcinoma in the appendix
Authors: Ping Zhou, Xuejiao Yu, Du He
Journal: Front Oncol (2024)
Keywords: appendix, coexistence, goblet cell adenocarcinoma, histopathology, low-grade appendiceal mucinous neoplasia
MeSH terms: Case Reports

Background:
Primary appendiceal tumors are rare. Low-grade appendiceal mucinous neoplasia (LAMN) and goblet cell adenocarcinoma (GCA) account for 20% and 14% of primary appendiceal tumors, respectively. The coexistence of LAMN and GCA is an extremely rare event. This report presents a case of an elderly male patient with an appendiceal tumor composed of LAMN and GCA in the same appendix.
Case presentation:
A 72-year-old male patient was admitted to our institution presenting with a history of abdominal pain localized to the right lower quadrant for two months. Abdominal computed tomography (CT) showed a large dilated thickened cystic mass in the appendix, along with a small duodenal diverticulum. Laboratory tests indicated elevated levels of serum carcinoembryonic antigen (CEA) and cancer antigen 199 (CA19-9) markers. The patient underwent a laparoscopic right hemicolectomy and exploration of the duodenal diverticulum, and there was no finding of perforation of the duodenal diverticulum. Focal positivity for chromogranin A (CgA) and synaptophysin (Syn) was observed in the tumor cells of GCA. The final pathological diagnosis revealed the coexistence of LAMN staged pT4a and grade 1 GCA staged pT3 in the appendix. Unfortunately, the patient died due to severe septic shock and circulatory failure secondary to a perforated duodenal diverticulum.
Conclusions:
The coexistence of LAMN and GCA are extremely rare in the appendix and may result from the proliferation of two independent cellular lines. The coexistence of distinct neoplasms poses diagnostic and management challenges. Multidisciplinary team discussion may be essential in the effective management of these patients.
Cushing's syndrome during pregnancy - two case reports
Authors: Sumita Cholekho, Yuke Liu, Huiwen Tan
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: cushing syndrome, adrenocorticotropic hormone, hypothalamic- pituitary-adrenal axis, maternal fetal complications, pregnancy
MeSH terms: Cushing Syndrome / diagnosis, Case Reports, Adrenalectomy / adverse effects, Adrenocorticotropic Hormone, Female, Fetus, Humans, Hydrocortisone, Pregnancy, Hydrocortisone, Adrenocorticotropic Hormone

Background:
Cushing's syndrome (CS) during pregnancy is a rare endocrine disorder characterized by hypercortisolism, which is significantly associated with maternal-fetal complications. Despite its rarity, CS during pregnancy may be related to a high risk of complications for both the mother and fetus.The aim of the present case study is to update the diagnostic approach to CS during pregnancy and the therapeutic strategies for this medical condition to minimize maternal-fetal complications.
Methods:
Here, we present two cases of CS in pregnant women, one of whom had twins. Typical clinical symptoms and signs of hypercortisolism developed at the beginning of pregnancy. The plasma cortisol diurnal rhythm of the pregnant patient was absent. CS was confirmed by cortisol and adrenocorticotropic hormone (ACTH) assessment, as well as imaging examination. We investigated the changes in the hypothalamic-pituitary-adrenal axis during normal pregnancy and the etiology, diagnosis and treatment of CS during pregnancy.
Conclusion:
Due to the associated risks of laparoscopic adrenalectomy,it is uncertain whether this treatment significantly decreases overall maternal mortality. Additional observational research and validation through randomized controlled trials (RCTs) are required. We advise that CS in pregnant women be diagnosed and treated by experienced teams in relevant departments and medical centers.
Stabilizing the unstable: Tuberculosis of the odontoid process with atlanto-occipital instability-Case report and review of literature
Authors: Shyam Duvuru, Vivek Sanker, Tirth Dave, Pratik Agarwal, Naureen Syed
Journal: Clin Case Rep (2023)
Keywords: tb odontoid, atlantoaxial instability, neurosurgery
MeSH terms: Case Reports

Key clinical message:
Tuberculosis (TB) of the odontoid process is a rare but potentially, a debilitating condition. Surgical intervention, in the form of stabilizing the spine and decompressing the spinal cord, offers a tailored approach to managing this condition effectively and improving prognosis.
Abstract:
Odontoid process tuberculosis (TB) is a rare condition that can cause spinal instability and neurological complications. Diagnosis of odontoid process TB is difficult and requires a combination of clinical, radiographic, and histopathological examinations. This report describes the treatment of a 46-year-old female with quadriparesis and intermittent fever. Radiological findings showed TB of the odontoid process with atlanto-axial dislocation causing compressive myelopathy. She underwent C1-C3 decompressive laminectomy and stabilization from C1 to C5. GeneXpert for TB was positive and she was started on anti-tuberculous medications. She regained power gradually and at 1 year follow-up she was ambulant without any support. The C1-C5 lateral mass screw and C1-C3 decompressive laminectomy approach, as highlighted in this case, offers an effective solution, enhancing patient quality of life, and preventing disease progression.
A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis
Authors: Daigo Nishijo, Hiroki Yagi, Nana Akiyama, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Norihiko Takeda, Issei Komuro
Journal: Case Rep Genet (2024)
MeSH terms: Case Reports

Nonsyndromic hereditary thoracic aortic aneurysm and dissection (TAAD) is an autosomal dominant disease; however, it is frequently difficult to identify the causative genes. We report in this study a 33-year-old Japanese male with TAAD (Stanford type A) that is complicated with severe aortic regurgitation. There was no family history of aortic diseases in the patient nor any specific clinical features suggestive of connective tissue diseases, such as Marfan syndrome. Genetic testing identified candidate causative variants in two different genes: MYLK (c.4819G > A, p.[Gly1607Ser]) and FBN1 (c.365G > A, p.[Arg122His]). Familial cosegregation analysis revealed that the novel de novo MYLK variant was present only in the proband, and the FBN1 variant was also found in his nonaffected mother, and thus the MYLK variant was classified as likely pathogenic. MYLK is a causative gene for nonsyndromic TAAD that requires careful management; however, the number of reports is limited. Accumulating data on the pathogenicity of rare variants by performing a comprehensive pedigree analysis would help establish better treatment strategies for life-threatening hereditary TAAD cases.
Recurrent cannabis-induced catatonia: a case report and comprehensive systematic literature review
Authors: Reza Moshfeghinia, Mehrnaz Hosseinzadeh, Sara Mostafavi, Roxana Jabbarinejad, Mahdi Malekpour, Elnaz Chohedri, Jamshid Ahmadi
Journal: Front Psychiatry (2024)
Keywords: addiction, cannabis, catatonia, electroconvulsive therapy, recurrence
MeSH terms: Case Reports

Background:
Catatonia presents itself as a complex neuropsychiatric syndrome, giving rise to various motor, speech, and behavioral challenges. It is noteworthy that approximately 10% of psychiatric hospital admissions can be attributed to this condition. It is imperative to note that cannabis-induced catatonia, while infrequent, has been linked to the use of marijuana. This connection has the potential to disrupt neurotransmitter systems, necessitating further research for a comprehensive understanding and effective treatment, particularly given the evolving trends in cannabis use. In this context, we shall delve into a unique case of recurrent cannabis-induced catatonia.
Case presentation:
A 23-year-old gentleman, who has previously struggled with substance use disorder, experienced the emergence of mutism, social isolation, and a fixed gaze subsequent to his use of cannabis. Remarkably, despite the absence of hallucinations, he exhibited recurrent episodes of catatonia. These episodes were effectively addressed through a combination of electroconvulsive therapy (ECT) and lorazepam administration. Notably, when the lorazepam dosage was gradually reduced to below 2 mg per day, the catatonic symptoms resurfaced; however, they promptly abated upon reinstating the medication. The diagnosis of cannabis-induced catatonia was established, and its management primarily involved a therapeutic approach encompassing ECT and lorazepam. It is pertinent to underscore that this catatonic condition can be directly linked to the individual's cannabis usage.
Conclusion:
The connection between cannabis and catatonia is intricate and not entirely comprehended. Although cannabis possesses therapeutic advantages, it can paradoxically trigger catatonia in certain individuals. Multiple factors, such as genetics, cannabinoids, and neurotransmitter systems, contribute to this intricacy, underscoring the necessity for additional research.
Case report: Second report of neuromuscular syndrome caused by biallelic variants in ASCC3
Authors: Wang Li, Zhongliang Li, Junhui Fu, Kaili Xu, Daoqi Mei, Xiaona Wang, Taisong Li, Xilong Du
Journal: Front Genet (2024)
Keywords: ascc3, developmental delay, intellectual disability, neuromuscular syndrome, whole-exome sequencing
MeSH terms: Case Reports

Introduction:
Activating Signal Cointegrator 1 Complex, Subunit 3 (ASCC3) has been implicated in the pathogenesis of neurodevelopmental disorders and neuromuscular diseases (MIM: 620700). This paper analyzes the clinical manifestations of three patients with developmental delay caused by ASCC3 genetic variation. Additionally, we discuss the previously reported clinical features of these patients along with our own findings, thereby enhancing our understanding of these genetic disorders and providing valuable insights into diagnosis, treatment, and potential interventions for affected individuals.
Methods:
In this study, we utilized trio-whole-exome sequencing (Trio-WES) and trio-copy number variations sequencing (Trio-CNV-seq) to analyze three unique families diagnosed with developmental delay caused by variation in ASCC3. Additionally, we retrospectively examined eleven previously reported ASCC3 genetic variations exhibiting similar clinical features.
Results:
Proband I (family 1) and Proband III (family 3) exhibited global developmental delays, characterized by intellectual disability, motor impairment, language retardation, lower muscle strength, and reduced muscle tone in their extremities. Proband II (family 2) presented poor response and dysphagia during feeding within 7 days after birth, clinical examination displayed short limbs, long trunk proportions, and clenched fists frequently observed alongside high muscle tone in his limbs -all indicative signs of developmental delay. Trio-WES revealed compound heterozygous variants in ASCC3 inherited from their parents. Proband I carried c. [489 dup]; [1897C>T], proband II carried c. [2314C>T]; [5002T>A], and proband III carried c. [5113G>T]; [718delG] variations, respectively.
Conclusion:
This study present the first report of Chinese children carrying compound heterozygous genetic variants in ASCC3 with LOF variants, elucidating the relationship between these variants and various aspects of intellectual disability. This novel finding expands the existing spectrum of ASCC3 variations.
Cervical dystonia and no oculomotor apraxia as new manifestation of ataxia-telangiectasia-like disorder 1 - case report and review of the literature
Authors: Agnieszka Bajek, Dominika Przewodowska, Dariusz Koziorowski, Maria Jędrzejowska, Stanisław Szlufik
Journal: Front Neurol (2023)
Keywords: mre11 gene, ataxia, ataxia-telangiectasia-like disorder 1, case report, cervical dystonia
MeSH terms: Case Reports

Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare neurodegenerative disorder associated with early onset ataxia and oculomotor apraxia. The genetic determination of ATLD1 is a mutation in the MRE11 gene (meiotic recombination 11 gene), which causes DNA-double strand break repair deficits. Clinical features of patients with ATLD1 resemble those of ataxia telangiectasia (AT), with slower progression and milder presentation. Main symptoms include progressive cerebellar ataxia, oculomotor apraxia, cellular hypersensitivity to ionizing radiations. Facial dyskinesia, dystonia, dysarthria have also been reported. Here we present a 45-year old woman with cervical and facial dystonia, dysarthria and ataxia, who turned out to be the first case of ATLD without oculomotor apraxia, and with dystonia as a main manifestation of the disease. She had presented those non-specific symptoms for years, before whole exome sequencing confirmed the diagnosis.
Case report: Successful treatment of hyperkalemia during general anesthesia in a domestic cat
Authors: Tiffany Irizarry, Sarah Gradilla
Journal: Front Vet Sci (2024)
Keywords: cardiac and pulmonary resuscitation, case report, creatine kinase, hyperkalemia, propofol-related infusion syndrome
MeSH terms: Case Reports

Objective:
This study aimed to describe the successful identification and treatment of severe hyperkalemia, cardiac arrhythmia, rhabdomyolysis, and acute kidney injury (AKI) in a domestic cat that underwent general anesthesia for abdominal exploratory surgery. The definitive underlying cause remains unknown; however, a reaction to propofol is suspected.
Case summary:
A 6-month-old intact male domestic short-hair cat underwent general anesthesia and developed severe intraoperative rhabdomyolysis, hyperkalemia, ventricular fibrillation, and AKI during surgery despite a documented mild hypokalemia and normal creatinine before inducing anesthesia. Propofol was administered as part of the anesthetic protocol. The patient was resuscitated successfully and responded well to advanced medical intervention. The hyperkalemia and AKI were resolved within less than 24 h from surgery and rhabdomyolysis was resolved at the time of recheck 5 days later.
New or unique information provided:
While previously suspected in dogs, to the authors' knowledge, propofol-related infusion syndrome (PRIS) has not been reported in domestic cats. Veterinary professionals should be aware that drug-induced intraoperative rhabdomyolysis and hyperkalemia can develop unexpectedly and should remain a differential for acute cardiac arrhythmias or cardiac arrest and AKI.
Recurrence of gigantic overhanging bleb post excision: a case report
Authors: Kirti Singh, Mainak Bhattacharyya, Ravinder Saran, Nikhil Gotmare, Himshikha Aggarwal, Pragya Jain
Journal: GMS Ophthalmol Cases (2023)
Keywords: amniotic membrane, bleb, overhanging, recurrence, trabeculectomy
MeSH terms: Case Reports

Purpose:
To report the case of an extremely large overhanging bleb, extending from superior fornix to limbus, in a 57-year-old poorly controlled diabetic, six years after trabeculectomy for an uncontrolled primary open angle glaucoma (POAG) with recurrence, months after complete excision.
Methods:
An overhanging bleb is defined as a filtering cicatrix which has been massaged downward over the cornea by eyelid action. It has been linked to anti-metabolite use during glaucoma filtering surgery. Despite being functional, these blebs result in patient discomfort ranging from foreign body sensation and lacrimation to dysphotopsia. A 57-year-old male presented with complaints of reduced vision, foreign body sensation, watering, and difficulty in eye closure in the left eye (OS) for past 6 months. He had undergone trabeculectomy with mitomycin C 6 years ago for advanced primary open-angle glaucoma with no follow-up beyond the initial one 4 weeks post-surgery.
Results:
At presentation, he had a giant multi-loculated, cystic filtering bleb (15 mm x 8 mm x 4-5 mm), which was carefully excised. Amniotic membrane was used as an anti-fibrotic as well to cover the defect. Seven months after surgery, there was recurrence of this overhanging cystic bleb when it was again excised with debulking of the conjunctiva done and cryotherapy applied to its margins.
Conclusion:
Although multiloculated cystic overhanging blebs have been documented before, such a large (posterior extent till fornix), thick-walled multiloculated bleb with histopathological evidence of chronic inflammatory process has not been reported prior.
Clinico-Radiological Correlation of Weber's Syndrome
Authors: Anand Hatgaonkar, Kajal Hatgoankar, Meet Jobanputra, Prasad Desale
Journal: Cureus (2024)
Keywords: brain stem stroke, mri brain, oculomotor nucleus, paramedian mid brain infarct, weber’s syndrome
MeSH terms: Case Reports

Weber's syndrome, named after Hermann Weber, is characterized by midbrain lesions often caused by strokes, resulting in ipsilateral third nerve palsy, including ptosis and pupillary abnormalities, and contralateral hemiplegia. We discuss a case of a 35-year-old lady with cognitive impairment, right hemiparesis, diplopia, left eye ptosis, and lateral eye deviation. MRI of the brain with contrast suggested an acute infarct in the left-sided paramedian region of the midbrain. The oculomotor nucleus and cerebral peduncle were both affected by an abrupt left-sided paramedian midbrain stroke. The participation of particular midbrain nuclei together with symptoms including drooping eyelids, diplopia, and limb paralysis suggested Weber's syndrome. An MRI study of the brain is the modality of choice in suspected stroke cases and is more sensitive when it comes to the brainstem lesions. A comprehensive neurological examination with a clinical diagnosis of Weber's syndrome before radiological investigations is of great help for localizing brain stem lesions and thus aids in early diagnosis and treatment.
Case Report: A family history of peanut allergy and hereditary alpha-tryptasemia
Authors: Yannick Chantran, Hélène Renaudin, Michel Arock, Tamazoust Guiddir, Ariane Nemni
Journal: Front Allergy (2024)
Keywords: anaphylaxis, case report, food allergy, hereditary alpha-tryptasemia, tryptase
MeSH terms: Case Reports

Context:
Hereditary alpha-tryptasemia (HαT) is associated with elevated basal serum tryptase (bST) and is associated with a higher risk of severe anaphylactic reactions in patients with clonal mast cell disorders or IgE-mediated Hymenoptera venom-induced anaphylaxis. The consequence of this genetic trait remains to be determined in other allergic diseases and food allergy in particular.
Objectives:
Here, we describe three cases of peanut allergy among siblings from a single family of four: two of them were associated with HαT, and the third one was associated with the tryptase wild-type genotype.
Methods:

TPSAB1/TPSB2 genotypes were determined by digital PCR. After the case description, we provided a review of the literature regarding bST levels and tryptase genotypes in anaphylaxis, with a particular focus on food allergy.
Results:
Compared to the sibling with the conventional tryptase genotype, the two siblings with HαT presented a lower peanut threshold at the initial oral food challenge, higher peanut skin prick test reactivity, higher levels of specific IgE to peanut, Ara h 2, and Ara h 6, and a lower IgG4/IgE ratio after 10 years of oral immunotherapy.
Conclusion:
The tryptase genotype and HαT status might modify the clinical presentation and biological features of food allergy.
Evaluation of sarcoidosis with multiple bone lesions using both bone scintigraphy and FDG-PET/CT: A case report
Authors: Naohiro Kadoma, Kenichiro Atsumi, Kaoruko Shinbu, Shunichi Nishima, Kakeru Hisakane, Koji Nagata, Masahiro Seike, Takashi Hirose
Journal: Respir Med Case Rep (2024)
Keywords: bone diseases, granuloma, positron-emission tomography, radionuclide imaging, sarcoidosis
MeSH terms: Case Reports

Sarcoidosis is a systemic granulomatous disease; however, the incidence of bone sarcoidosis is relatively rare. The short tubular bones of the hands and feet are most frequently affected, while the vertebrae and the pelvic bones are rarely involved. We hereby report a rare case of multiple bone sarcoidosis involving the vertebrae and pelvic bones, evaluated before and after steroid therapy using two different imaging modalities: bone scintigraphy and A 18F-fluorodeoxyglucose positron emission tomography combined with computed tomography (FDG-PET/CT). FDG-PET/CT is effective for detecting bone lesions; however, whole-body imaging is recommended to detect the short tubular bones of the hands and feet, which are most frequently affected.
Positive response to trastuzumab deruxtecan in a patient with HER2-mutant NSCLC after multiple lines therapy, including T-DM1: a case report
Authors: Junzhu Xu, Bo He, Yunan Wang, Mengjia Wu, Yanyi Lu, Zixuan Su, Shujun Liu, Fengmin Yin, Jian-Guo Zhou, Wei Hu
Journal: Front Oncol (2024)
Keywords: adcs, her2 mutation, t-dxd, chemotherapy, non-small cell lung cancer, target-therapy
MeSH terms: Case Reports

Human epidermal growth factor 2 (HER2) mutations are uncommon in non-small cell lung cancer (NSCLC), and the lack of established, effective, targeted drugs has resulted in a persistently poor prognosis. Herein, we report the case of a non-smoking, 58-year-old man diagnosed with lung adenocarcinoma (cT3N0M1c, stage IVB) harboring a HER2 mutation (Y772_A775dupYVMA) and PD-L1 (-). The patient's Eastern Cooperative Oncology Group performance status (PS) score was assessed as 1. He commenced first-line treatment with chemotherapy, followed by immuno-chemotherapy, and with disease progression, he received HER2-targeted therapy and chemotherapy with an anti-angiogenic agent. However, HER2-targeted therapy, including pan-HER tyrosine kinase inhibitors (afatinib, pyrotinib, and pozitinib) and antibody-drug conjugate (T-DM1), produced only stable disease (SD) as the best response. After the previously described treatment, primary tumor recurrence and multiple brain metastases were observed. Despite the patient's compromised overall physical condition with a PS score of 3-4, he was administered T-DXd in addition to whole-brain radiotherapy (WBRT). Remarkably, both intracranial metastases and primary lesions were significantly reduced, he achieved a partial response (PR), and his PS score increased from 3-4 to 1. He was then treated with T-DXd for almost 9 months until the disease again progressed, and he did not discontinue the drug despite the occurrence of myelosuppression during this period. This is a critical case as it exerted an effective response to T-DXd despite multiple lines therapy, including T-DM1. Simultaneously, despite the occurrence of myelosuppression in the patient during T-DXd, it was controlled after aggressive treatment.