OpenMed/multicare-articles huggingface dataset:
Case Report of Successful Childbearing after Conservative Surgery for Cervical Mullerian Adenosarcoma
Authors: Seiji Kanayama, Masako Nakamura, Hidekazu Oi, Sumire Sugimoto, Yoshikazu Sasaki, Tomoko Uchiyama, Chiho Ohbayashi, Hiroshi Kobayashi
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

Mullerian adenosarcoma (MA) is a rare tumor variant with low malignancy potential and is reported to account for 8% of all uterine sarcomas. Cervical MAs are reported to occur in relatively younger patients with the mean age of 27 years, while those in the uterine corpus generally present in postmenopausal women. Due to the rarity of cervical MAs, optimal management for these patients (especially younger women) is still under exploration. Here, we describe a case of cervical MA in a woman of reproductive age who was treated by fertility-preserving surgery and successfully delivered a child 18 months later.
Can we trust tumour markers in pregnancy after breast cancer? A case of elevated CA 15-3 in the third trimester of pregnancy normalising after delivery
Authors: Barbara Buonomo, Stefania A Noli, Alessandra Santini, Carlo Alviggi, Fedro A Peccatori
Journal: Ecancermedicalscience (2019)
Keywords: ca 15-3, breast cancer, markers, pregnancy
MeSH terms: Case Reports

We realized a narrative review of the current literature starting from the case of a patient with raised CA15-3 during an uncomplicated pregnancy after breast cancer. The aim of our paper was to assess specificity, physiological changes and clinical utility of CA 15-3 monitoring during pregnancy after breast cancer, starting from clinical practice and retrieving the most relevant evidence in the literature.
Idiopathic double tracheal stenosis mimicking asthma: a case report
Authors: Sarra Maazoui, Tasnim Znegui, Amany Touil, Sonia Habibech, Islam Mejri, Hajer Racil, Nawel Chaouch
Journal: Pan Afr Med J (2023)
Keywords: asthma, bronchoscopy, case report, tracheal stenosis
MeSH terms: Asthma / diagnosis, Tracheal Stenosis / etiology, Case Reports, Adult, Bronchoscopy, Constriction, Pathologic, Dyspnea, Female, Humans, Intubation, Intratracheal / methods, Respiratory Sounds

Idiopathic tracheal stenosis (Idio-SS) is an extremely rare disease. Its diagnosis is of exclusion and could be misdiagnosed as asthma. Herein, we report the case of a 39-year-old woman who had been treated for asthma for several months. She has no history of endotracheal intubation or granulomatous disease. Flexible fiberoptic bronchoscopy and thoracic computed tomography revealed double tracheal stenosis. The patient had rigid bronchoscopy; the upper tracheal stenosis was dilated with insertion of a silicone airway stent at the level of the distal stenosis. The diagnosis of idiopathic stenoses was made according to the clinico-radiological features. Symptoms were completely relieved and no recurrence was observed after one year of follow-up. This case highlights the importance of clinical suspicion and early diagnosis of Idio-SS in patients with unexplained wheezing and dyspnea. It also illustrates the role of endoscopic procedures in this situation.
Inflammatory Neuropathy of the Lumbosacral Plexus following Periacetabular Osteotomy
Authors: Stijn Ghijselings, Frans Bruyninckx, Hendrik Delport, Kristoff Corten
Journal: Case Rep Orthop (2016)

Introduction. During periacetabular osteotomy (PAO), the sciatic, femoral, and obturator nerves are at risk. Most frequently nerve lesions can be attributed to a mechanical cause; however, in the absence of a clear mechanical cause surgeons are faced with a diagnostic problem and in many cases no diagnosis will be established. We report a case of inflammatory neuropathy of the lumbosacral plexus following a PAO. Case Presentation. A 31-year-old female developed weakness of ankle and knee flexion and extension 6 months after a PAO. Electrophysiological studies revealed damage to the obturator, femoral, and sciatic nerve consistent with an inflammatory lumbosacral plexopathy. MRI of the lumbosacral plexus was normal. The patient was treated with multimodal pain therapy and prolonged physiotherapy; nevertheless, symptoms worsened over time. At 2-year follow-up, there were no signs of recovery. Discussion. Inflammatory neuropathy of the lumbosacral plexus is a potential cause of pain and weakness after ipsilateral orthopaedic procedures. It should be distinguished from more frequently encountered mechanical causes of postsurgical neuropathy based on clinical suspicion, electrophysiological studies, MRI, and nerve biopsy. It is important that the orthopaedic community is aware of this complication since there is some evidence that early recognition and initiation of immunosuppressive therapy can lead to improved clinical outcome.
Complex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex
Authors: Martina Rincic, Milan Rados, Zeljka Krsnik, Kristina Gotovac, Fran Borovecki, Thomas Liehr, Lukrecija Brecevic
Journal: Mol Cytogenet (2016)
MeSH terms: Case Reports

Background:
Van der Woude syndrome (MIM: 119300, VWS) is a dominantly inherited and the most common orofacial clefting syndrome; it accounts for ~2 % of all cleft lip and palate cases. Intellectual disability (ID) is characterized by significant limitations, both in intellectual functioning (cognitive deficit) and in adaptive behavior as expressed in conceptual, social and practical adaptive skills. Karyotyping has been the first standard test for the detection of genetic imbalance in patients with ID for more than 35 years. Advances in genetic diagnosis have laid chromosomal microarrays (CMA) as a new standard and first first-line test for diagnosis of patients with ID, as well as other conditions, such as autism spectrum disorders or multiple congenital anomalies.
Case presentation:
The present case was initially studied due to unexplained cognitive deficit. Physical examination at the age of 18 years revealed cleft palate, lower lip pits and hypodontia, accompanied with other dysmorphic features and absence of speech. Brain MRI uncovered significantly reduced overall volume of gray matter and cortical gyrification. Banding cytogenetics revealed an indistinct intrachromosomal rearrangement in the long arm of one chromosome 1, and subsequent microarray analyses identified a 5.56 Mb deletion in 1q32.1-1q32.3, encompassing 52 genes; included were the entire IRF6 gene (whose mutations/deletions underlay VWS) and SRGAP2, a gene with an important role in neuronal migration during development of cerebral cortex. Besides, a duplication in 3q26.32 (1.9 Mb in size) comprising TBL1XR1 gene was identified. Multicolor banding for chromosome 1 and molecular cytogenetics applying a battery of locus-specific probes covering 1q32.1 to 1q44 characterized a four breakpoint-insertional-rearrangement-event, resulting in 1q32.1-1q32.3 deletion.
Conclusions:
Considering that the human-specific three-fold segmental duplication of SRGAP2 gene evolutionary corresponds to the beginning of neocortical expansion, we hypothesize that aberrations in SRGAP2 are strong candidates underlying specific brain abnormalities, namely reduced volume of grey matter and reduced gyrification.
Fatal meningococcemia
Authors: John Tabacco, Elizabeth Suniega, Fardad Sarabchi, Dimitra Mitsani
Journal: J Community Hosp Intern Med Perspect (2012)
Keywords: infectious disease
MeSH terms: Case Reports

Within the past six years, a case of bothWaterhouse-Freidrichsen Syndrome and fulminant meningococcemia have presented to Union Memorial Hospital. Both cases presented in markedly different fashions, differed in microbiologic serogrouping, showed minimal histopathologic similarities; however achieved ultimately the same outcome through two different pathological pathways. The following case reports illustrate two mechanisms through which N. Meningitis may pathogenize a host, both leading to complete cardiovascular collapse in less than 12 hours.
Ureteroiliac fistula after oncological surgery: Case report and review of the literature
Authors: Ettore Mearini, Alessio Paladini, Valerio Cellini, Matteo Mearini, Graziano Felici, Andrea Vitale, Giovanni Cochetti
Journal: Open Med (Wars) (2022)
Keywords: emergency treatment, haemorrhagic shock, ureteroiliac fistula
MeSH terms: Case Reports

Fistulas arising between ureters and iliac arteries (UAF) are rare pathological events and frequently require emergency treatment, as they are associated with massive haematuria and haemorrhagic shock. The medical history plays a key role in the diagnostic and therapeutic process, as it allows to include UAF among the differential diagnoses of gross haematuria. The emergency treatments of fistulas arising between the urinary system and the vascular system include the open repairing surgery or the endovascular grafting, the latter generally better tolerated by patients suffering from multiple comorbidities or not eligible for traditional surgery. Nephrostomy or ureteral stent can be used to drain the affected upper urinary tract temporarily or permanently. Herein, we reported two cases of oncological patients affected by UAF and treated successfully by endovascular procedures. Furthermore, we performed a narrative review of the literature concerning UAF and its diagnostic and therapeutic management. Although our study did not allow us to state definitive conclusion about the diagnostic and therapeutic management of UAF due to small sample size, our findings support previous experiences in favour of the treatment of fistulas with an endovascular approach.
Case report: Local cryoablation combined with pembrolizumab to eliminate lung metastases from ovarian clear cell carcinoma
Authors: Liangliang Meng, Zhongliang Zhang, Xiao Zhang, Xiaobo Zhang, Yingtian Wei, Bin Wu, Xiaodong Xue, Xin Zhang, Xiaofeng He, Yueyong Xiao
Journal: Front Immunol (2022)
Keywords: pd-1, cryoablation, lung metastases, ovarian cancer, pembrolizumab
MeSH terms: Carcinoma / drug therapy, Cryosurgery / methods, Lung Neoplasms / pathology, Ovarian Neoplasms / drug therapy, Case Reports, Research Support, Non-U.S. Gov't, Female, Humans, Immune Checkpoint Inhibitors, pembrolizumab, Immune Checkpoint Inhibitors

Ovarian clear cell carcinoma has a high recurrence rate with poor prognosis and is generally not sensitive to conventional platinum-based chemotherapy. Its less frequent occurrence of mutations such as BRCA limited the targeted therapies. Immunotherapy is not currently recommended as a first-line agent for ovarian cancer, and most patients are not yet able to benefit from it. Cryoablation can be used to treat solid systemic tumors, including ovarian cancer metastases, and can produce a limited anti-tumor immune response. The anti-tumor effects of cryoablation combined with immunotherapy have not been adequately confirmed. This study reports a case of a patient with ovarian clear cell carcinoma who underwent conventional adjuvant chemotherapy after initially surgical resection of the tumor. Unfortunately, cancer recurred and metastasized to the abdominal wall. After a series of painful chemotherapy and a second surgery, the cancer was still not effectively controlled, and the patient developed extensive metastases in the lung. The patient's PD-L1 expression level also did not support solo immunotherapy. We pioneered the use of cryoablation to first eradicate the most significant lesion in the upper lobe of the left lung and then combined it with the PD-L1 inhibitor pembrolizumab to treat the patient with immunotherapy, which resulted in the complete eradication of the other multiple metastases in the lung and saved the patient's life. Although the precise mechanism of action has not yet been explored, we have reason to believe that the combination of cryoablation and immune checkpoint inhibitor has a powerful synergistic anti-tumor effect, which is yet to be confirmed by more basic research and clinical applications in the next step.
Ischemic Stroke Secondary to a Stab Wound to the Neck in a Young Adult
Authors: Mateo Zuluaga-Gómez, Daniela Giraldo-Campillo, Daniel González-Arroyave, Carlos M Ardila
Journal: Case Rep Med (2022)
MeSH terms: Case Reports

Vertebral artery dissection is a common cause of stroke in young adults without predisposing risk factors for cerebrovascular disease. We describe the case of a 28-year-old patient who presented with an ischemic stroke secondary to a stab wound to the neck that affected the vertebral artery. A physical examination revealed neurological deterioration (Glasgow 8/15), a sutured neck wound, no palpable hematoma, no thrills, and no active bleeding. A computed tomography angiography revealed a left vertebral artery arteriovenous fistula with a component of a pseudoaneurysm, for which a neurointerventional consultation was carried out. Due to neurological compromise, the airway was secured, and because the case involved a posterior fossa infarction with compression of the fourth ventricle and obstructive secondary hydrocephalus, an external ventricular shunt was inserted by neurosurgery. A fistula occlusion was performed with five Axium coils and a vial of Squid 12; the vertebral artery was catheterized, and a craniotomy was performed to manage hydrocephalus with a 12-mm H2O collecting system. The patient was discharged on the tenth day after admission with sequelae of left hemiparesis (predominantly brachial) and no other deficits. There was no hemorrhagic transformation on the control computed tomography scans and no further complications.
Case report: Laparoscopic treatment of gastro-omental hemangioma with hemorrhage: two cases reports and review of literature
Authors: Long-Kuan Yin, Jian-Jun Liu, Yi-Guo Feng, Hua-Yan Yuan, Wei Wang, Xiang-Yu Bai, Pan Wang
Journal: Front Surg (2023)
Keywords: abdominal apoplexy, hemangioma, hemorrhage, laparoscope, omentum
MeSH terms: Case Reports

Background:
Spontaneous hemorrhage of gastro-omental hemangioma is a rare disease. The treatment strategy for this disease changes as it develops. In the acute stage, surgery is the first priority, among which laparoscopic treatment should be the most frequently considered option in large general hospitals. Due to the rarity of this disease, such cases have rarely been reported.
Case description:
We present the first report of two eldely cases with gastro-omental hemangioma with hemorrhage by laparoscopic treatment. Both cases were initially admitted with upper abdominal pain, and abdominal computed tomography (CT) scan revealed masses alongside the greater curvature of the stomach. Laparoscopic surgery was conducted immediately in both patients. The two cases recovered well after surgery, and no obvious abnormalities were observed in the follow-up period.
Conclusion:
Gastro-omental hemangioma rupture remains an uncommon cause of intraperitoneal hemorrhage. Timely diagnosis and surgery are paramount for treatment. Medical institutions with the correct technology and equipment should perform laparoscopic treatment to minimize surgical trauma and promote rapid recovery of patients with abdominal apoplexy.
Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach
Authors: Ragna S Boerma, Kees P Braun, Marcel P H van den Broek, Frederique M C van Berkestijn, Marielle E Swinkels, Eveline O Hagebeuk, Dick Lindhout, Marjan van Kempen, Maartje Boon, Joost Nicolai, Carolien G de Kovel, Eva H Brilstra, Bobby P C Koeleman
Journal: Neurotherapeutics (2016)
Keywords: scn8a, epileptic encephalopathy, phenytoin, sodium channel blockers
MeSH terms: Anticonvulsants / therapeutic use, Epilepsy / genetics, NAV1.6 Voltage-Gated Sodium Channel / genetics, Phenytoin / therapeutic use, Case Reports, Research Support, Non-U.S. Gov't, Child, Child, Preschool, Epilepsy / drug therapy, Female, Humans, Male, Mutation, Missense / genetics, NAV1.6 Voltage-Gated Sodium Channel / drug effects, Treatment Outcome, Anticonvulsants, NAV1.6 Voltage-Gated Sodium Channel, SCN8A protein, human, Phenytoin

Mutations in SCN8A are associated with epilepsy and intellectual disability. SCN8A encodes for sodium channel Nav1.6, which is located in the brain. Gain-of-function missense mutations in SCN8A are thought to lead to increased firing of excitatory neurons containing Nav1.6, and therefore to lead to increased seizure susceptibility. We hypothesized that sodium channel blockers could have a beneficial effect in patients with SCN8A-related epilepsy by blocking the overactive Nav1.6 and thereby counteracting the effect of the mutation. Herein, we describe 4 patients with a missense SCN8A mutation and epilepsy who all show a remarkably good response on high doses of phenytoin and loss of seizure control when phenytoin medication was reduced, while side effects were relatively mild. In 2 patients, repeated withdrawal of phenytoin led to the reoccurrence of seizures. Based on the findings in these patients and the underlying molecular mechanism we consider treatment with (high-dose) phenytoin as a possible treatment option in patients with difficult-to-control seizures due to an SCN8A mutation.
Atypical Mycobacterial Infection after Abdominoplasty Overseas: A Case Report and Literature Review
Authors: Prabin Sharma, Laia Jimena Vazquez Guillamet, Goran Miljkovic
Journal: Case Rep Infect Dis (2016)
MeSH terms: Case Reports

Increasing number of medical tourists travel internationally for cosmetic procedures. Lipotourism is a form of medical tourism becoming popular among patients of developed countries due to the cost efficiency of cosmetic procedures when performed in developing nations. There is a paucity of data on quality, safety, and risks involved with these surgeries. Many cases of infections have been documented in patients following cosmetic surgeries in developing countries. We present a case of a 34-year-old female who underwent abdominoplasty in Dominican Republic that was complicated with development of multiple abdominal wall abscesses due to infection from rapidly growing mycobacteria (RGM). In the absence of clear treatment guidelines, she was treated with a combination of intermittent surgical drainage and prolonged antibiotic course. This case is of interest as more than one species of RGM was isolated from the same patient. Our case highlights the fact that identification of these organisms can be difficult requiring referral of samples to specialized laboratories and treatment duration can last several months, which is determined by clinical and microbiological response.
Valproate-associated hyperammonemic encephalopathy in subarachnoid hemorrhage: a diagnosis to consider
Authors: Vivian Fuellis, Pedro Grille, Federico Verga, Luis Urbán Alfaro, Lucciano Grasiuso, Marcelo Barbato
Journal: Rev Bras Ter Intensiva (2022)
MeSH terms: Hyperammonemia / chemically induced, Hyperammonemia / diagnosis, Hyperammonemia / drug therapy, Subarachnoid Hemorrhage / diagnosis, Case Reports, Anticonvulsants / adverse effects, Humans, Valproic Acid / adverse effects, Anticonvulsants, Valproic Acid

Subarachnoid hemorrhage is a prevalent disease with high morbidity and mortality. Numerous complications contribute to brain injury and defy the clinical practitioner on diagnosis and management. Valproate-associated hyperammonemic encephalopathy is a rare, underdiagnosed, serious and important entity to consider. We present a case of a patient with subarachnoid hemorrhage who received anticonvulsant prophylaxis with valproate and developed neuroworsening associated with high levels of ammoniemia and periodic discharge electroencephalographic patterns without other identifiable causes. Discontinuing valproic acid treatment and normalization of ammoniemia resulted in improvement in clinical and electroencephalographic neurological status.
Oral Trypanosoma cruzi Transmission Resulting in Advanced Chagasic Cardiomyopathy in an 11-Month-Old Male
Authors: Melissa S Nolan, Joseane Elza Tonussi Mendes, Andres Ricardo Perez Riera, Gabriel Zorello Laporta
Journal: Case Rep Infect Dis (2020)
MeSH terms: Case Reports

Our case report describes the youngest clinical acute Chagas disease case and their unusual disease presentation of cardiac failure. In parts of the Brazilian Amazon, cultural practices include weaning infants from breastmilk to solid foods with açaí consumption serving as an intermediary. This practice could place infants at an increased risk of oral Trypanosoma cruzi infection and severe Chagasic cardiac disease.
Malignant Melanoma Presenting as Spinal Cord and Pleural Lesions
Authors: Aysha Albastaki, Sharifa Ahmed, Asher Khan, Abeer Farhan, Talal Almayman
Journal: Case Rep Oncol Med (2023)
MeSH terms: Case Reports

Primary spinal cord melanoma (PSCM) and primary pleural melanoma (PPM) are extremely rare entities with scarce cases reported in the literature. We present a case of a 54-year-old male diagnosed with possible primary pleural melanoma and primary spinal melanoma, managed with partial surgical resection, postoperative radiotherapy, and chemotherapy consisting of Ipilimumab, nivolumab, and temozolomide. This leads to decreased symptoms and improved quality of life of the patient. In this case report, we review the literature on PSCM and PPM in detail, addressing the pertinent clinical aspects as well as current and upcoming therapeutic options.
Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review
Authors: Jun Wang, Xingqing Gou, Xiyi Wang, Jing Zhang, Nan Zhao, Xiaohong Wang
Journal: Front Genet (2022)
Keywords: ssr4 gene, x-linked ssr4-cdg, congenital disorder of glycosylation, microcephaly, psychomotor retardation, type iy
MeSH terms: Case Reports

Background: Recently, the hemizygous variation of SSR4 gene has been reported to be associated with congenital disorder of glycosylation type Iy. To date, only 13 patients have been diagnosed with SSR4-CDG in the worldwide, but it has not been reported in the Chinese population. Methods: Whole-exome sequencing and gene copy number variation analysis were used to genetic analysis. The mRNA expression of SSR4 gene in blood was detected by Real-time Quantitative PCR. The clinical manifestations of all patients reported in the literature were reviewed. Results: WES analysis identified a de novo hemizygous variant c.269G>A (p.Trp90*) of SSR4 gene in the proband with psychomotor retardation, microcephaly, abnormal facial features, and nystagmus. This variant has not been reported in previous studies. The in vivo mRNA expression of SSR4 gene in patient was significantly decreased. Literature review showed that all 14 patients, including our patient, presented with hypotonia, intellectual disability, developmental delay, microcephaly, and abnormal facial features, while most patients had feeding difficulties, growth retardation, and ocular abnormalities, and epilepsy and skeletal abnormalities are less common. Conclusion: We reported the first case of SSR4-CDG caused by SSR4 variant in Chinese population, expanded the clinical and mutation spectra of the disorder, clarified the genetic etiology of the patient, and offered support for the prenatal diagnosis of the index family.