OpenMed/multicare-articles huggingface dataset:
Generalized pustular psoriasis in a toddler with IL36RN mutation: a case report
Authors: Ghaith Adi, Mohammed Rami Shaath, Kareem Adi, Zaki Obaid, Egab Aldosari, Faten Ahmed AlKateb
Journal: Front Immunol (2024)
Keywords: il36n gene, biological agents, childhood gpp, gene mutation, generalized pustular psoriasis, psoriasis
MeSH terms: Psoriasis / diagnosis, Psoriasis / genetics, Psoriasis / pathology, Skin Diseases, Vesiculobullous / genetics, Case Reports, Acute Disease, Child, Preschool, Chronic Disease, Genetic Testing, Humans, Interleukins / genetics, Mutation, Interleukins, IL36RN protein, human

Generalized Pustular Psoriasis (GPP) is a dermatological autoinflammatory disease that rarely occurs in children and is associated with complex genetic factors. GPP pathogenesis has been associated with mutations in IL36RN gene, which encodes an interleukin-36 receptor antagonist. GPP usually occurs without a history of psoriasis in the patients or their family members. This case report describes the clinical course of a 3-year-old toddler with GPP. The diagnosis of GPP was confirmed through a comprehensive series of examinations, and genetic testing revealed an IL36RN mutation, providing further insight into the genetic basis of the condition. This case highlights the importance of a genetic perspective for diagnosing GPP, particularly in children.
Bipolar disorder and Lewy body dementia: case report and literature review
Authors: Sayuri Nakamura, Hiroko Sugawara, Ryo Asada, Akito Hatanaka, Hikaru Hori
Journal: Front Psychiatry (2024)
Keywords: lewy body dementia, parkinson’s disease, bipolar disorder, dopamine nerve system, psychotic symptoms

Depressive episodes with psychotic symptoms are prevalent among the older adults, emphasizing the need to differentiate them from dementia with Lewy bodies (DLB), in which depressive and psychotic symptoms commonly coexist. In contrast, psychotic symptoms occur more frequently in depressive episodes of bipolar disorder (BD) than in major depressive disorder (MDD). Although MDD is a significant risk factor for dementia, studies exploring the relationship between BD and dementia are lacking. This report details the case of a 74-year-old female who experienced severe psychotic depression that led to suicide attempts during a long-term course of young-onset BD. Ultimately, she was diagnosed with DLB based on her neurocognitive symptoms and results of the neuroimaging examination. She had experienced multiple relapses in the past, predominantly characterized by depressive episodes in her old age. Notably, she had never undergone lithium treatment, which is known for its potential efficacy in preventing relapse and dementia. Recent systematic reviews and meta-analyses have suggested that patients with BD have a higher risk of dementia than the general population, and that lithium usage is associated with a reduced risk. Moreover, patients with BD have been suggested to have an elevated risk of developing Parkinson's disease (PD), and the pathophysiological relationship between BD and PD may be attributed to dopamine dysregulation resulting from multiple relapses. Future research is imperative to identify strategies for preventing dementia in patients with BD and to develop interventions for the comorbidities of BD and DLB.
Recurrent CNTN1 antibody-positive nodopathy: a case report and literature review
Authors: Min Zhao, Guixian Chen, Shuguang Li, Xiaojun Li, Haoxuan Chen, Zhenzhen Lou, Huiying Ouyang, Yibo Zhan, Chenghao Du, Yuanqi Zhao
Journal: Front Immunol (2024)
Keywords: cidp, ataxia, contactin-1, nodopathy, tremor
MeSH terms: Autoantibodies / blood, Autoantibodies / immunology, Contactin 1 / immunology, Case Reports, Review, Female, Humans, Middle Aged, Plasmapheresis, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / blood, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / diagnosis, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / immunology, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / therapy, Recurrence, Tremor / etiology, Tremor / immunology, Autoantibodies, Contactin 1

Background:
Contactin-1 (CNTN1) antibody-positive nodopathy is rare and exhibits distinct clinical symptoms such as tremors and ataxia. However, the mechanisms of these symptoms and the characteristics of the cerebral spinal fluid (CSF) remain unknown.
Case presentation:
Here, we report a case of recurrent CNTN1 antibody-positive nodopathy. Initially, a 45-year-old woman experiencing numbness in the upper limbs and weakness in the lower limbs was diagnosed with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Eleven years later, her symptoms worsened, and she began to experience tremors and ataxia. Tests for serum CNTN1, GT1a, and GQ1b antibodies returned positive. Subsequently, she was diagnosed with CNTN1 antibody-positive nodopathy and underwent plasmapheresis therapy, although the treatment's efficacy was limited. To gain a deeper understanding of the disease, we conducted a comprehensive literature review, identifying 52 cases of CNTN1 antibody-positive nodopathy to date, with a tremor prevalence of 26.9%. Additionally, we found that the average CSF protein level in CNTN1 antibody-positive nodopathy was 2.57 g/L, with 87% of patients exhibiting a CSF protein level above 1.5 g/L.
Conclusion:
We present a rare case of recurrent CNTN1 antibody-positive nodopathy. Our findings indicate a high prevalence of tremor (26.9%) and elevated CSF protein levels among patients with CNTN1 antibody-positive nodopathy.
Epidermoid Cyst in the Submandibular Region Mimicking Plunging Ranula: A Case Report
Authors: Benjamin T Gillette, Cameron M Heilbronn
Journal: Cureus (2024)
Keywords: congenital epidermoid cyst, giant epidermoid cyst, open surgical approach, plunging ranula, submandibular
MeSH terms: Case Reports

Epidermoid cysts rarely present in the submandibular area, constituting approximately less than 7% of all cystic lesions in the head and neck region and less than 0.01% of all oral cavity cysts. Therefore, epidermoid cysts can be easily misdiagnosed, as the differential diagnosis for a submandibular area mass is very broad. Imaging can help define characteristics of the mass; however, a pathologic specimen is usually required for the final diagnosis. Surgical excision is often required and tolerated well by most patients. However, there is a risk of recurrence of the cyst after excision, as well as a rare chance for malignant transformation if not excised, which must be discussed with the patient at the time of diagnosis of epidermoid cyst. We present a 33-year-old Caucasian female with a left submandibular cystic mass measuring 4.7 cm x 2.9 cm, that was originally thought to be a plunging ranula and subsequently diagnosed as an epidermoid cyst. This report is meant to raise awareness of the possibility of a submandibular mass being an epidermoid cyst as well as appropriate workup, treatment, and prognosis of epidermoid cysts in the submandibular region. This report also describes a unique approach to a submandibular epidermoid cyst of which the submandibular gland is divided for access to the cyst for safe and effective excision. To the author's knowledge, this surgical approach has not been described in the literature for a submandibular epidermoid cyst.
Intravitreal methotrexate in type B lymphoblastic leukemia-Case Report
Authors: Maria Isabel Maya Naranjo, Sebastián Vallejo López, Sara Mesa Mesa, Mónica Ortiz Pérez, Mariana López Posada, Martha Lía Gaviria Bravo, María Elena González Alviar
Journal: Front Oncol (2023)
Keywords: acute lymphoblastic leukemia, case report, hypopion, intravitreal injection, methotrexate
MeSH terms: Case Reports

Leukemia is a common neoplasia that, in its progress, can have ocular involvement due to direct infiltration or secondary to hematological alterations typical of the disease. These findings are consistent with an involvement of the central nervous system and are thus related to the prognosis. Despite the existing systemic therapies, there needs to be more literature that shows the treatment in the ocular involvement of this disease. A case report of a child with ocular involvement due to treatment-refractory acute lymphoblastic leukemia, successfully managed with intravitreal methotrexate, is presented.
Chronic subdural hematoma that may be caused by nephrotic syndrome: a case report and literature review
Authors: Hang Xue, Kun Xue, Xiaohui Wang, Weidong Xu, Weitao Zhang, Guangwen Xia
Journal: Front Neurol (2024)
Keywords: chronic subdural hematoma, drugs, mechanisms, nephrotic syndrome, surgery

Background:
Chronic subdural hematoma (CSDH) is a common complication of neurosurgery. Craniocerebral trauma is the likely cause. There are no reports relating CSDH with nephrotic syndrome. Its pathogenesis is very rare, and there are no previous reports on treatments for this disease. We report a case of chronic subdural hematoma that may be caused by nephrotic syndrome and review the previous literature on this subject.
Case summary:
We report a rare case of chronic subdural hematoma that may be caused by nephrotic syndrome. After the patient was admitted to the hospital, relevant laboratory tests were conducted, and a large amount of protein was detected in the patient's urine, indicating hypoproteinaemia and hyperlipidemia. The patient was diagnosed with nephrotic syndrome. After the exclusion of related surgical contraindications, the patient underwent trepanation and drainage of the chronic subdural hematoma. Subsequent treatment with oral atorvastatin was provided after surgery. The patient was transferred to the nephrology department for further treatment of nephrotic syndrome if his neurological condition improved. No neurological sequelae were detected at the follow-up visit 3 months after the operation.
Conclusion:
Chronic subdural hematomas are rarely caused by nephrotic syndrome. Trepanation and drainage may be considered for patients confirmed to have adequate hematoma liquefaction on imaging and who can tolerate craniotomy. Atorvastatin should be supplemented as prophylactic treatment after the operation. Nephrotic syndrome should be treated as soon as the patient's neurological condition is stable.
"In the army I'm no longer typecast as the son of migrant workers": modalities of inclusion and belonging among children of migrant workers in the military in Israel
Authors: Galia Sabar, Deby Babis, Anabel Lifszyc-Friedlander, Uzi Ben-Shalom
Journal: Front Psychol (2024)
Keywords: israel, army, belonging, children of labor migrants, citizenship, inclusion

This article explores how non-citizen minorities experience military service, focusing on children of international labor migrants who served in the Israel Defense Forces. During the 1990's, Israel witnessed an influx of migrant workers, primarily from the Philippines, Latin America and Africa. However, due to Israeli immigration policies, neither they nor their Israeli-born children were eligible for citizenship. Consequently, upon reaching the age of 18, unlike their Israeli peers, these children were not recruited into the army. Furthermore, they lived under constant threat of deportation. Due to advocacy by civil society organizations, in 2006 and 2010 the government granted civic status (permanent residency) to approximately 1,500 children. This made them eligible for military service, a somewhat unique situation globally. Upon completion of their first year of military service, they were eligible for Israeli citizenship and their immediate family members were eligible for permanent residency. Through qualitative and quantitative research, we examine inclusion and belonging amongst children of migrant workers who served in the military. Our findings suggest that military service enabled them to overcome the exclusionary boundaries they experienced as children in three ways. Firstly, they achieved formal belonging by receiving citizenship. Secondly, they achieved informal belonging through the cultural and social capital this service accrued within Israeli society. Finally, for some, military service deepened their knowledge of Judaism and, in certain cases, led to conversion, thus fostering religious belonging. These three aspects facilitated inclusion and a sense of belonging for these formerly marginalized children while also enhancing their legitimacy within Israeli society. This unique case study contributes to ongoing global debates about the experiences of minority groups in the military.
Fatal viscerotropic and neurotropic disease after yellow fever vaccine: a rare manifestation leading to diagnosis of severe combined immunodeficiency in an infant
Authors: Lara Jhullian Tolentino Vieira, Gabriela Assunção Goebel, Yuri Barcelos, Luciana Oliveira Cunha, Luisa Teles Melo Santos, Roberta Maia de Castro Romanelli, Fernanda Gontijo Minafra, Andrea Lucchesi de Carvalho, Luiz Fernando Andrade de Carvalho, Lilian Martins Oliveira Diniz
Journal: Rev Inst Med Trop Sao Paulo (2024)
MeSH terms: Severe Combined Immunodeficiency / diagnosis, Severe Combined Immunodeficiency / immunology, Yellow Fever Vaccine / adverse effects, Case Reports, Fatal Outcome, Female, Humans, Infant, Yellow Fever Vaccine

Yellow fever vaccine (YFV) is a live attenuated vaccine that can cause a mild infection in immunocompetent patients. However, it may not be self-limiting in patients with inborn errors of immunity (IEI) and may be the first and most severe presentation in these patients. A 10-month-old female infant sought emergency care presenting fever for three days and diffuse exanthema. She was a previous healthy child of consanguineous parents. The child had received YFV 28 days before the onset of symptoms. Upon hospital admission, petechial rash on the limbs and hepatosplenomegaly were noted on physical exam. Laboratory tests showed thrombocytopenia, increased serum aminotransferases and elevated gamma-glutamyl transferase (GGT) and alkaline phosphatase levels. During hospitalization she developed hypoactivity, drowsiness, and hypotonia. The possibility of viscerotropic and neurotropic vaccine associated disease was suspected and a possible primary immunodeficiency disease considered. The patient was tested for antibodies against the yellow fever virus (MAC ELISA) on serum and cerebrospinal fluid (CSF) samples, showing positive IgM results. Immunophenotyping showed low levels of lymphocytes and absence of T-cell receptor excision circles (TREC), leading to diagnose of severe combined immunodeficiency disease (SCID). Despite treatment, after 35 days of hospitalization, she evolved to cardiorespiratory arrest and death. Serious adverse events after administration of the YFV are rare and associated with neurological or visceral involvement in most cases. The unfavorable outcome highlights the importance of neonatal screening for SCID and the clinical suspicion of primary immunodeficiencies in infants who have serious adverse events to live virus vaccines.
Dynamic vocal analysis: vocal functionality evaluation
Authors: Mara Behlau, Glaucya Madazio, Rosiane Yamasaki
Journal: Codas (2023)
MeSH terms: Larynx, Voice, Case Reports, Humans, Phonation, Speech, Voice Quality

Dynamic vocal analysis (DVA) is an auditory-perceptual and acoustic vocal assessment strategy that provides estimates on the biomechanics and aerodynamics of vocal production by performing frequency and intensity variation tasks and using voice acoustic spectrography. The objective of this experience report is to demonstrate the use of DVA in the assessment of vocal functionality of dysphonic and non-dysphonic individuals, with a special focus on the laryngeal musculature. Phonatory tasks consisted of sustained vowel, "a" or "é", and/or connected speech, in three intensities (habitual, soft, and loud) and three frequencies (habitual, high, and low), as well as ascending and descending glissando. The adjustments of the laryngeal and paralaryngeal muscles can be inferred from the different DVA tasks. The main characteristics of the laryngeal muscles analyzed are control of glottic adduction, stretching, and shortening of the vocal folds; the main characteristics of the paralaryngeal musculature are mainly related to the vertical laryngeal position in the neck. While the sustained vowel evaluates the vocal functionality with a focus on the larynx, connected speech allows the evaluation of the articulatory adjustments employed. An acoustic spectrographic software can be used to visualize the performance of such tasks. The clinical application of the DVA will be exemplified using acoustic spectrography plates from normal and dysphonic voices, taken from a voice bank. Individuals who perform the DVA tasks in a balanced way, with adequate vocal quality and without phonatory effort, demonstrate good vocal functionality. On the other hand, difficulties in performing these tasks with worsening vocal quality and/or increased muscle tension may be indications of altered vocal functionality.
Case Report: Efficacy, safety, and favorable long-term outcome of early treatment with IL-1 inhibitors in a patient with chronic infantile neurological cutaneous articular (CINCA) syndrome caused by NLRP3 mosaicism
Authors: Giorgio Costagliola, Sofia D'Elios, Susanna Cappelli, Francesco Massei, Giulia Maestrini, Alessandra Beni, Diego Peroni, Rita Consolini
Journal: Front Pediatr (2024)
Keywords: anakinra, autoinflammatory disorders, canakinumab, chronic infantile neurological cutaneous articular syndrome, cryopyrin-associated syndromes (caps), inflammasome
MeSH terms: Case Reports

Chronic infantile neurological cutaneous articular (CINCA) syndrome is an autoinflammatory disease encompassed in the group of cryopyrin-associated periodic syndromes (CAPS). Patients suffering from CINCA have an elevated risk of developing chronic sequelae, including deforming arthropathy, chronic meningitis, neurodevelopmental delay, and neurosensorial hearing loss. The diagnosis of CINCA presents several difficulties, as the clinical phenotype could be difficult to recognize, and almost half of the patients have negative genetic testing. In this paper, we describe the case of a patient presenting with the typical phenotype of neonatal-onset CINCA who resulted negative for NLRP3 mutations. Based on the clinical judgment, the patient underwent treatment with anti-interleukin-1 (IL-1) agents (anakinra and, later, canakinumab) resulting in a complete clinical and laboratory response that allowed confirmation of the diagnosis. Additional genetic investigations performed after the introduction of anti-IL-1 therapy revealed a pathogenic mosaicism in the NLRP3 gene. After a 12-year follow-up, the patient has not experienced chronic complications. Although genetics is rapidly progressing, this case highlights the importance of early diagnosis of CINCA patients when the clinical and laboratory picture is highly suggestive in order to start the appropriate anti-cytokine treatment even in the absence of a genetic confirmation.
Case report: Central-pituitary hypothyroidism concurrent with hyperadrenocorticism without pituitary macroadenoma in a Miniature Schnauzer dog
Authors: Yeon Chae, Taesik Yun, Yoonhoi Koo, Dohee Lee, Mhan-Pyo Yang, Hakhyun Kim, Byeong-Teck Kang
Journal: Front Vet Sci (2023)
Keywords: miniature schnauzer dog, central-pituitary hypothyroidism, hyperadrenocorticism, multiple endocrinopathies, secondary hypothyroidism
MeSH terms: Case Reports

Multiple endocrine disorders are uncommon in veterinary medicine, and the disease combination is usually related to hypercortisolism or autoimmunity. Central-pituitary hypothyroidism, also refer to secondary hypothyroidism, can be caused by hypercortisolemic conditions and is well-recognized in human medicine. However, central hypothyroidism, including pituitary hypothyroidism, concurrent with hyperadrenocorticism, is rarely reported in veterinary medicine. A 7-year-old, intact female Miniature Schnauzer presented with generalized alopecia, scale, and pruritus and was diagnosed with superficial pyoderma and Malassezia dermatitis. Hormonal tests were performed, and the results indicated multiple endocrinopathies with a combination of non-adrenal dependent hyperadrenocorticism and central-pituitary hypothyroidism. Magnetic resonance imaging (7 T) and high-resolution research tomography positron emission tomography were performed to differentiate neuroendocrine tumors; however, no lesion was found in the hypothalamic to pituitary region. Hyperadrenocorticism was managed first to control endocrinopathy. After controlling hypercortisolism, a weak elevation of free thyroxine (T4) was revealed, whereas total T4 and thyroid-stimulating hormone (TSH) were still undetectable, and hypothyroidism management was added. About 9 months after the management, both endocrine diseases were well controlled, and clinical signs improved; however, serum TSH was unmeasured consistently. This case study describes a case of multiple endocrinopathies in a Miniature Schnauzer dog diagnosed with central-pituitary hypothyroidism concurrent with non-adrenal dependent hyperadrenocorticism without pituitary macroadenoma.
A rare case report of hyaline-vascular type Castleman disease in the presacral region
Authors: Long Chang, Shuang Wang, Jiannan Li, Zeyun Zhao, Min Wang
Journal: Front Oncol (2024)
Keywords: ct, castleman disease hyaline-vascular variant, mri, pathological examination diagnosis, presacral mass, surgery, unicentric castleman disease (ucd)
MeSH terms: Case Reports

Castleman disease (CD), also known as giant lymph node hyperplasia or angiofollicular lymph node hyperplasia, is a rare and indeterminate group of chronic lymphoproliferative disorders. CD is highly heterogeneous, classified into unicentric Castleman disease (UCD) and multicentric Castleman disease (MCD) based on lesion distribution, and further categorized into three pathological types: hyaline vascular type (HV), plasma cell type (PC), and mixed type (Mix). This paper describes a rare case of solitary mediastinal Castleman disease with transparent vessels in the anterior sacrum, presenting as the HV type. Surgical excision of the mass was performed following coccygectomy for treatment. The patient recovered well postoperatively. During a 6-month follow-up period, there were no signs of recurrence, and the patient's quality of life significantly improved.
Patient of Congenital Absence of a Lumbar Pedicle With Nerve Root Anomaly Presenting With Ipsilateral Foraminal Stenosis by Vertebral Fracture
Authors: Shotaro Fukada, Takeru Tsujimoto, Masahiro Kanayama, Fumihiro Oha, Yukitoshi Shimamura, Yuichi Hasegawa, Shogo Fukase, Tomoyuki Hashimoto, Norimasa Iwasaki
Journal: Case Rep Orthop (2024)
Keywords: congenital absence, lumbar fusion, lumbar pedicle, nerve root anomaly
MeSH terms: Case Reports

Background: Patients with congenital absence of a lumbar pedicle and nerve root anomaly presenting with ipsilateral foraminal stenosis are extremely rare. Case Presentation: An 80-year-old man had low back and right thigh pain. Radiographs and computed tomography (CT) showed L3 vertebral body fracture and the absence of the right L3 lumbar pedicle. He was diagnosed with L2-L3 right foraminal stenosis caused by an L3 vertebral fracture and underwent lumbar fusion at L2-L3 and L3-L4. Intraoperatively, we confirmed that an anomalous nerve root was divided from the right L2 nerve root near the dorsal root ganglion (DRG). Conclusions: Patients with congenital absence of a lumbar pedicle are less prone to ipsilateral foraminal stenosis because they theoretically have a large space in the foramen. This rare case was caused because of additional instability due to vertebral fracture under the condition of a nerve root anomaly and lumbar degeneration.