OpenMed/multicare-articles huggingface dataset:
Surgical procedures and plasma exchange for ovarian teratoma-associated anti-N-methyl D-aspartate receptor encephalitis: a case report and review of literature
Authors: Yue Hu, Jianyuan Zhang, Peihai Zhang, Baozhi Sun, Hongli Zou, Lei Cheng
Journal: Front Oncol (2023)
Keywords: adnexectomy, anti-n-methyl d-aspartate receptor encephalitis, oophorectomy, oophorocystectomy, ovarian cystectomy, ovarian teratoma, plasma exchange
MeSH terms: Case Reports

We reported a case of ovarian teratoma-associated Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis with recurrent epileptic seizures and disturbance of consciousness. Although surgical excision of the tumor remains the established standard of care, unlike other reported cases, the patient exhibited limited response to early oophorocystectomy, as well as IVIG and steroid therapy; however, a favorable response was observed with Plasma exchange (PE) initiated on postoperative day 12. Literature review revealed no definite recommended surgical extent for ovarian teratomas, and outstanding improvement in patients with anti-NMDAR encephalitis following PE. Our case raises the question regarding the optimal surgical extent for tumor resection, necessitating careful consideration when deciding between oophorectomy and adnexectomy as the preferred surgical procedure for anti-NMDAR encephalitis in female teens and adults. Furthermore, for refractory patients who fail to respond following tumor resection, PE can be performed early instead of immediately initiating second-line therapy.
Isolated soft tissue tuberculosis: a case report and literature review
Authors: Baolin Chen, Yuxiang Bao, Jun Chen, Yunpu Zhang, Qifu Wen, Kai Wang, Xiaoming Cheng, Junyuan Lv
Journal: Front Med (Lausanne) (2023)
Keywords: case report, diagnosis, extrapulmonary, soft tissue tuberculosis, treatment
MeSH terms: Case Reports

Soft tissue tuberculosis is a rare extrapulmonary form of tuberculosis with limited experience in diagnosis and treatment. Soft tissue tuberculosis is an extrapulmonary infection with atypical clinical symptoms that can be easily misdiagnosed. In this article, we report a case of a female patient with isolated soft tissue tuberculosis who presented with a progressively enlarging subcutaneous mass as the primary symptom, and was suspected of having a subcutaneous lipoma after ultrasonography. A review of the literature revealed that soft tissue tuberculosis is insidious and mainly occurs in muscles and subcutaneous tissues. It was indicated by histopathology and qPCR testing for Mycobacterium tuberculosis complex. There is no standard treatment protocol for soft tissue tuberculosis, and a comprehensive regimen of surgical debridement of the lesion combined with chemotherapy can be used following the guidelines for treating extrapulmonary tuberculosis. Early diagnosis and standardized anti-tuberculosis treatment can significantly improve the prognosis of patients.
Case Report: Urethral Diverticulum after Tubularised Incised Plate Repair of Distal Hypospadias: An Uncommon Complication
Authors: Ammar Kheyami, Abdulla AlMuharraqi, Mahmood Abbas, A K Singhal
Journal: F1000Res (2024)
Keywords: urethra, circumcision, diverticulum, hypospadias
MeSH terms: Diverticulum / etiology, Diverticulum / surgery, Hypospadias / surgery, Urethral Diseases / etiology, Case Reports, Child, Preschool, Humans, Male, Postoperative Complications / etiology, Urethra / surgery

Introduction:
A urethral diverticulum can be defined as a pocket that forms from the lining of the urethra and protrudes into the surrounding tissue, a condition which causes voiding dysfunction and may result as a rare complication of hypospadias repair surgery.
Case report:
We report the case of a 2-year-old child who presented to us in 2019 complaining of a thin forceful stream, ballooning of the ventral aspect of the penis while voiding, and post-void dribbling. He has a history of undergoing a tubularised incised plate urethroplasty for distal penile hypospadias at 18-months-old. Ultrasound showed increased post-void residual volume and cystourethroscopy confirmed a urethral diverticulum extending from the subcorona to the base of the penis. The patient underwent partial excision of diverticulum, urethroplasty, and meatoplasty. He was followed-up 3 months later with complete resolution of his symptoms and a normal urinary stream with no urethral ballooning or dribbling.
Conclusion:
Urethral diverticulum may present as a complication post hypospadias repair. Although it is rare, we believe that it is important for the patient's parents to understand the possibility and know of the signs and symptoms in addition to attending regular outpatient clinic appointments in order to facilitate early management if needed. Furthermore, it is highly important for physicians to assess newborns for hypospadias before carrying out circumcision as it is a contraindication for the procedure.
Case report: hikikomori syndrome in Italy and its link with autistic traits and internet gaming disorder
Authors: Barbara Carpita, Chiara Bonelli, Federico Giovannoni, Francesca Parri, Matteo Gambini, Benedetta Nardi, Giulia Amatori, Ivan Mirko Cremone, Stefano Pini, Liliana Dell'Osso
Journal: Front Psychiatry (2024)
Keywords: autistic spectrum disorder, autistic traits, hikikomori, internet gaming disorder, social withdrawal
MeSH terms: Case Reports

During the last few decades, a growing field of literature is focusing on hikikomori, a phenomenon described as a form of pathological social withdrawal or social isolation that lasts for more than 6 months leading to significant functional impairment and/or distress. Despite initially considered a culture-bound syndrome, hikikomori syndrome later gained a wider recognition in different countries, ranging from an attempt to take refuge in an idealistic world, when society success' standards are not reached, to a maladaptive coping strategy complicating several psychiatric illnesses such as anxiety disorders, major depression, internet addiction, internet gaming disorder (IGD) and autism spectrum disorder (ASD). In this framework, difficulties in social interaction, in problem solving strategies and socio-emotional reciprocity, may lead to social withdrawal and hikikomori-like behaviors. In this work, we described two cases of patients where the presence of underlying autism spectrum may have represented a sign of vulnerability towards the development of a possible full-blown case of hikikomori with IGD.
HLA-targeted sequencing reveals the pathogenic role of HLA-B*15:02/HLA-B*13:01 in albendazole-induced liver failure: a case report and a review of the literature
Authors: Jin-Mao Liao, Yan Zhan, Zheng Zhang, Jia-Jia Cui, Ji-Ye Yin
Journal: Front Pharmacol (2023)
Keywords: dili, hla polymorphism, im-adrs, genetic susceptibility, liver injury
MeSH terms: Case Reports

Drug-induced liver injury (DILI) is one of the serious adverse drug reactions (ADRs), which belongs to immune-mediated adverse drug reactions (IM-ADRs). As an essential health drug, albendazole has rarely been reported to cause serious liver damage. A young man in his 30 s developed severe jaundice, abnormal transaminases, and poor blood coagulation mechanism after taking albendazole, and eventually developed into severe liver failure. The patient was found heterozygous of HLA-B*15:02 and HLA-B*13:01 through HLA-targeted sequencing, which may have a pathogenic role in the disease. This case report summarizes his presentation, treatment, and prognosis. A useful summary of the diagnosis and associated genetic variant information is provided.
Case report: Findings in ovaries development from an aborted equine fetus
Authors: Matteo Cuccato, Andrea Bertuglia, Sara Divari, Eleonora Brambilla, Valeria Grieco, Enrico Bollo, Frine Eleonora Scaglione
Journal: Front Vet Sci (2024)
Keywords: abortion, fetus, foal, hamartoma, neoplasia, ovary
MeSH terms: Case Reports

An aborted female foal was submitted for necropsy. During the gross examination, the ovaries were pale, grayish, and enlarged (6 × 5 cm), with a well-developed vascular structure surrounding the external surface; the cut surface of the ovaries showed a brownish parenchyma with white follicular areas mainly localized in the peripheral region. The ovaries were fixed for histological investigations. The histological evaluation of the ovaries showed polygonal-shaped cells with abundant cytoplasm and round or oval nuclei, arranged in cords of single cells. The tissue architecture was characterized by the presence of lobular-like tissues with a central vein. The tissue mimicking hepatocytes was delimited by a mature fibrous tissue and was surrounded by the normal ovarian tissue characterized by germinal epithelium and primordial follicular structures. Based on the histological findings, a diagnosis of bilateral ovarian hamartoma was carried out initially. For a better characterization of the ovarian tissue, the expression of tissue-specific (liver and ovary) markers was investigated using immunohistochemistry. Following the immunohistochemical analysis, the hamartoma diagnosis was excluded. The ovaries exhibited unique characteristics different from those of adult horse ovaries as well as unique morphological features different from other mammalian species. This case report enhances our understanding of ovaries at a later stage of pregnancy and unveils unique characteristics of horse ovaries development, avoiding misdiagnosis with pathological findings, hamartomas, or neoplasia.
Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report
Authors: Federico Baltar, Camila Simoes, Francisco Garagorry, Martín Graña, Soledad Rodríguez, María Haydée Aunchayna, Alejandra Tapié, Alfredo Cerisola, Gabriel González, Hugo Naya, Lucía Spangenberg, Víctor Raggio
Journal: Front Pediatr (2024)
Keywords: cln8, ceroid lipofuscinosis, genomics, neurodegeneration, neurological disorders, whole genome sequencing
MeSH terms: Case Reports

Background:
Neuronal Ceroid Lipofuscinosis (NCL) disorders, recognized as the primary cause of childhood dementia globally, constitute a spectrum of genetic abnormalities. CLN8, a subtype within NCL, is characterized by cognitive decline, motor impairment, and visual deterioration. This study focuses on an atypical case with congenital onset and a remarkably slow disease progression.
Methods:
Whole-genome sequencing at 30× coverage was employed as part of a national genomics program to investigate the genetic underpinnings of rare diseases. This genomic approach aimed to challenge established classifications (vLINCL and EPMR) and explore the presence of a continuous phenotypic spectrum associated with CLN8.
Results:
The whole-genome sequencing revealed two novel likely pathogenic mutations in the CLN8 gene on chromosome 8p23.3. These mutations were not previously associated with CLN8-related NCL. Contrary to established classifications (vLINCL and EPMR), our findings suggest a continuous phenotypic spectrum associated with CLN8. Pathological subcellular markers further validated the genomic insights.
Discussion:
The identification of two previously undescribed likely pathogenic CLN8 gene mutations challenges traditional classifications and highlights a more nuanced phenotypic spectrum associated with CLN8. Our findings underscore the significance of genetic modifiers and interactions with unrelated genes in shaping variable phenotypic outcomes. The inclusion of pathological subcellular markers further strengthens the validity of our genomic insights. This research enhances our understanding of CLN8 disorders, emphasizing the need for comprehensive genomic analyses to elucidate the complexity of phenotypic presentations and guide tailored therapeutic strategies. The identification of new likely pathogenic mutations underscores the dynamic nature of CLN8-related NCL and the importance of individualized approaches to patient management.
A Case of Ertapenem-Induced Delirium
Authors: Maria Aquilina, Nicole Galdes, Neville Spiteri
Journal: Cureus (2024)
Keywords: acute delirium, ertapenem side effect, ertapenem-induced encephelopathy, osteomyelitis with abscess, sacral pressure ulcer
MeSH terms: Case Reports

Ertapenem is a carbapenem antibiotic that is typically prescribed in cases of moderate-to-severe infections, especially ones involving abscess formation. We describe the case of an 82-year-old gentleman who presented with osteomyelitis and abscess formation who developed delirium after 15 days of ertapenem treatment. The patient experienced delusions, insomnia, agitation, and disorientation. The patient's mental status improved and returned to his baseline within 48 hours of halting ertapenem treatment. A high index of suspicion is required to identify and treat ertapenem-induced delirium. Withdrawal of ertapenem treatment in such cases usually results in a complete resolution of symptoms.
Heart Failure in a Young Adult with a Fine-Lubinsky Syndrome: An Unknown Comorbidity
Authors: Blake Purtle, Jason Wagner, Andrew Zarker, Vishal Patel, David Aguilar
Journal: Case Rep Cardiol (2024)
MeSH terms: Case Reports

The Fine-Lubinsky syndrome (FLS) is a rare congenital disorder. Heart failure has not been described in young adults with this condition. Here, we report the first case of heart failure in a young adult patient with FLS. This finding highlights the need for further investigation into cardiac complications in this illness.
Management Challenges and Potential Malabsorption of Valproic Acid in a Patient with Bipolar Disorder and Gastrointestinal History
Authors: James Kwok, Janeline Wong, Kye Kim
Journal: Case Rep Psychiatry (2024)
MeSH terms: Case Reports

Bipolar disorder is a chronic psychiatric condition typically managed using mood stabilizers such as valproic acid, lithium, and atypical antipsychotics, the former which is absorbed in the gastrointestinal tract. This case report presents the challenges encountered in managing bipolar disorder in a patient with a history of extensive gastrointestinal (GI) issues. The patient was initially treated with lithium but experienced adverse effects, prompting a switch to valproic acid (VPA) tablets. However, due to ongoing GI problems unrelated to her medication and to help improve tolerability, the patient underwent multiple medication formulation changes, including Depakote delayed release tablets, Depakene liquid, and Depakote sprinkle capsules. However, the patient's VPA levels decreased below therapeutic levels after the formulation changes despite medication compliance. This case highlights the importance of considering GI issues in optimization of a treatment plan for patients with bipolar disorder.
Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue of the ileum in an adult presenting with intussusception: a case report and literature review
Authors: Binlin Da, Juanjuan Zhang, Feng Zhu, Zhiming Wang, Yanqing Diao
Journal: Front Oncol (2024)
Keywords: ileocolic intussusception, malt lymphoma, abdominal pain, case report, extranodal marginal zone b-cell lymphoma of the mucosa-associated lymphoid tissue
MeSH terms: Case Reports

Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (EMZL), also known as MALT lymphoma, is an extranodal multiorgan-invasive proliferative lymphoma composed of small B cells with variable morphology. It most commonly occurs in the digestive tract, with a high prevalence in the stomach, but EMZL originating in the small intestine is rare and lacks specificity in clinical manifestations, which makes it easy to be misdiagnosed. Herein, we report a rare case of small intestinal EMZL presentation as intussusception in a 32-year-old man. A colonoscopy performed at the local hospital revealed a pedicled polyp about 5 cm × 5 cm in size with a rough surface, and hyperemia was seen in the ileocecal region. He was admitted to our hospital for a polypectomy. A contrast-enhanced computed tomographic (CT) scan suggested ileocolic intussusception, which was subsequently confirmed by a colonoscopy in our hospital. Adult intussusception is relatively rare, with 90% of cases having a known causative mechanism and 40% of cases caused by primary or secondary malignancies. Therefore, we performed a laparoscopic-assisted right hemicolectomy for the patient. The resected specimen showed that the terminal ileum was intussuscepted into the ascending colon, and the intussusception was hyperemia and edema. A 2.5 cm × 2.5 cm × 1.5 cm mass was seen at the end of the intussusception. Postoperative pathology revealed that the mass was EMZL, partially transformed into a large B-cell lymphoma. The patient was transferred to the hematology department and completed a PET-CT showing postoperative manifestations of primary intestinal lymphoma, Lugano staging IE2. Although EMZL was an indolent lymphoma and the patient was in the early stages, the rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) regimen was given in view of the histological transformation. The patient is in regular follow-up. This was a rare case of small intestinal mass due to EMZL presented as intussusception in adults, which highlighted laparoscopic-assisted enterectomy as a potential therapeutic approach in the multidisciplinary collaborative therapy of small intestine EMZL.
Case report: Revealing the rare-a Brody Disease patient from Turkey expanding the phenotype
Authors: Ayça Şahin, Esmer Zeynep Duru Badakal, Müge Kovancılar Koç, Hilmi Uysal, Ayşe Nazlı Başak
Journal: Front Genet (2023)
Keywords: atp2a1, brody disease, brody myopathy, serca1, rare disease, whole-exome sequencing
MeSH terms: Case Reports

Brody Disease is an exceptionally rare, autosomal recessive myopathy attributed to the pathogenic variants in the ATP2A1, which encodes the sarcoplasmic/endoplasmic reticulum Ca (2+) ATPase type 1 protein SERCA1. It was first described by Brody IA in 1969. To date, only thirty-three Brody families with forty-seven patients have been reported in the literature, and the disease prevalence is considered as 1 in 10 million, demonstrating the peculiarity of the disease. Clinical characteristics of Brody Disease include muscle stiffness after exercise, myalgia, and muscle cramps. Brody Disease patients generally have disease onset in the first decade, and genetic diagnosis is delayed as a consequence of both the rareness and the mild course of the disease. Here, we report a Turkish Brody Disease patient with a homozygous c.428G>A p.Arg143Gln (NM_004320.4) missense mutation in the ATP2A1. The male patient, whose symptoms started at the age of 14-15, is now 36 years old. His clinical manifestations are athletic appearance, exotropia, slightly elevated creatine kinase (CK), mild progressive proximal muscle weakness in the lower extremities, muscle cramps, pain and stiffness. The patient described here has a very mild progression with an onset in the second decade, expanding the Brody Disease phenotype. The study also implies that in the era of emerging genetic therapies, the routine testing of patients with myopathies is a prerequisite since not only future therapies will be designed on molecular findings, but also currently available symptomatic and palliative treatment options will be more precisely applied.
Presentation and Management of Acute Mania in Fanconi-Bickel Syndrome, A Metabolic Genetic Disorder
Authors: Allen P F Chen, Geoffrey Russell, Amnie Ashour, Adeeb Yacoub
Journal: Case Rep Psychiatry (2024)
MeSH terms: Case Reports

Fanconi-Bickel syndrome (FBS) is a rare metabolic disorder caused by decreased glucose transporter 2 (GLUT2) function due to several known mutations in the SLC2A2 gene. As of 2020, 144 cases of FBS have been described in the literature. Metabolic and somatic sequelae include dysglycemia and accumulation of glycogen in the kidney and liver. However, there are no descriptions in the literature of possible neuropsychiatric manifestations of FBS. This case report is to our knowledge the first in this regard, describing a patient with FBS who was admitted to our psychiatric inpatient unit while experiencing acute mania. We conceptualize the case as a novel psychiatric presentation of acute mania in FBS, which may inform our understanding of bipolar disorder pathophysiology because of the hypothesized functional changes in neural pathways involving the paraventricular thalamus induced by decreased GLUT2 activity in FBS.
Case report: Analysis of a case of hydrogen sulfide poisoning in a waste treatment plant
Authors: Aerbusili Genjiafu, Mengdi Shi, Xiangxing Zhang, Xiangdong Jian
Journal: Front Public Health (2023)
Keywords: analysis of the case, hydrogen sulfide poisoning, self-protection, sludge treatment tank, waste treatment plant
MeSH terms: Hydrogen Sulfide, Occupational Diseases, Case Reports, Humans, Male, Sewage, Hydrogen Sulfide, Sewage

This paper summarizes and analyzes the clinical data of a patient with Occupational hydrogen sulfide poisoning admitted to our hospital on March 4, 2023. On the morning of March 2, 2023, the patient worked at an environmental energy company (waste treatment plant) in Shandong Province for the first time, The job was to flush the sludge from the walls of the sludge treatment tank (anaerobic tank) with a water gun, which can release hydrogen sulfide gas. When the patient was about to start work after entering the tank for about 1 min, he suddenly smelled a harsh and pungent odor, felt dizzy and weak, and then the patient suddenly fainted. After hearing the sound of the patient fainting, the workman waiting at the entrance of the tank immediately called someone to go into the tank and quickly pull the patient out, and sent to the local hospital. In the local hospital, the patient was confused, accompanied by irritability, convulsion and other manifestations, and was treated with sedation and nutritional support. Two days later, the patient's condition did not improve. For further diagnosis and treatment, the patient was transferred to the Department of Poisoning and Occupational Diseases in our hospital. After comprehensive treatment in our hospital, the patient got better and was discharged. Subsequent reexamination and follow-up showed that the patient recovered well. The work unit of the patient did not provide any personal protective equipment. According to the field investigation after the accident, the pipeline around the sludge treatment tank was blocked by sludge, resulting in a large amount of high concentration of H2S accumulated in the tank, causing the patient to faint soon after entering the tank, and his worker should be in the tank for a short time, and no health abnormalities were found. Hydrogen sulfide has a strong irritation to the human body, which can lead to asphyxia or even death in severe cases. The safety prevention and prevention knowledge of hydrogen sulfide poisoning should be popularized among enterprises and workers to reduce the occurrence of such incidents.