OpenMed/multicare-articles huggingface dataset:
A Case of Type 1 Triallelic Patterns at D5S818, D18S51, D6S1043, and FGA Demonstrated by Short Tandem Repeat Analysis
Authors: Jing Fan, Ai-Ping Zhang, Zhong-Zheng Zheng, Lin An, Pei-Li Xiao, Dai-Yang Li, Ke-Ming Du, Hao Xiong
Journal: Int J Clin Pract (2022)
MeSH terms: Microsatellite Repeats / genetics, Case Reports, Review, Aged, Gene Frequency, Humans

The triallelic pattern of short tandem repeat (STR) is rare; especially, the case where this pattern exists at 4 loci has not been reported. Here, we report the type 1 triallelic patterns at D5S818, D18S51, D6S1043, and FGA from a Chinese family, which were observed during our routine chimerism assays. Before hematopoietic stem cell transplantation, the blood sample of the certain patient was analyzed by performing chimerism analysis. A preliminary STR analysis was also performed on the samples of the patient's parents. STR signal data illustrated that the sum of the peak chart areas of the two types inherited from the father was basically the same as that of the mother, belonging to the type 1 triallelic pattern. In addition, the patient's elder sister's STR result appeared to be normal. Altogether, we presented a pedigree, in which the triallelic pattern was linked by inheritance in the family. This is the first reported case of the triallelic pattern at D5S818, D18S51, D6S1043, and FGA all around the world. We hope that in the future there will be any tools to achieve accurate verification against this possibility.
Detection of multidrug-resistant Acinetobacter baumannii by metagenomic next-generation sequencing in central nervous system infection after neurosurgery: A case report
Authors: Ying Tian, Han Xia, Linlin Zhang, Jian-Xin Zhou
Journal: Front Public Health (2022)
Keywords: acinetobacter baumannii, central nervous system infections, cerebrospinal fluid, metagenomic next-generation sequencing, resistance genes
MeSH terms: Acinetobacter baumannii / genetics, Central Nervous System Infections, Ependymoma, Mycobacterium tuberculosis, Neurosurgery, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Female, High-Throughput Nucleotide Sequencing / methods, Humans, Microbial Sensitivity Tests

Background:
Central nervous system (CNS) infection is one of the most serious complications after neurosurgery. Traditional clinical methods are difficult to diagnose the pathogen of intracranial infection. Due to recent advances in genomic approaches, especially sequencing technologies, metagenomic next-generation sequencing (mNGS) has been applied in many research and clinical settings.
Case presentation:
Here, we report a case of CNS infection with Acinetobacter baumannii in a 15-year-old woman, who previously underwent surgery for recurrence of ependymoma in the fourth ventricle. On the eleventh postoperative day, the patient had a high fever and leukocytosis in the cerebrospinal fluid (CSF). mNGS using CSF rapidly and accurately identified the causative pathogen as A. baumannii with carbapenem resistance genes blaOXA-23 and blaOXA-51, which were confirmed by subsequent culture and susceptibility tests within 5 days. During the disease, mNGS, culture, and drug susceptibility testing were continued to monitor changes in pathogenic bacteria and adjust medication. At present, there are no case reports on to the use of mNGS for detecting pathogens in postoperative infection with ependymoma and guide medication.
Conclusion:
mNGS has great advantages in pathogen identification and even pathogen resistance prediction. Multiple mNGS examinations during the course of the disease play an important role in the dynamic monitoring of pathogens.
Autosomal dominant mutation of MSX1 gene causing tooth and nail syndrome
Authors: Mohammed Najmuddin, Safeena Abdul Khader Saheb, Abdulrahman Nahi Alharbi, Fahad Mohammed Alsobil, Chitra Jhugroo, Aftab Ahmed Khan, Darshan Devang Divakar, Sachin Naik, Sanjeev Balappa Khanagar
Journal: Pan Afr Med J (2020)
Keywords: partial anodontia, tooth and nail syndrome
MeSH terms: Anodontia / diagnosis, MSX1 Transcription Factor / genetics, Nails, Malformed / diagnosis, Case Reports, Review, Adolescent, Anodontia / genetics, Female, Humans, Mutation, Nails, Malformed / genetics, MSX1 Transcription Factor, MSX1 protein, human, Witkop syndrome

Tooth and Nail Syndrome or Nail Dysplasias with Hypodontiaor Witkop´s Syndrome is an autosomal dominant condition present at birth and improves by age. An early diagnosis is essential to avoid future functional, aesthetic, and psychological problems. Here we report two classic cases with brief clinical, radiological and genetic investigation along with a brief review of literature.
Case Report: Unusual Peritoneopericardial Diaphragmatic Hernia in an 8-Month-Old German Shepherd Dog, Associated With a Pericardial Pseudocyst and Coexisting Severe Pericardial Effusion Resulting in Right-Sided Heart Failure
Authors: Imke Hennink, Pia Düver, Ulrich Rytz, Felix Meneses, Melania Moioli, Katja-Nicole Adamik, Alan Kovačević
Journal: Front Vet Sci (2021)
Keywords: german shepherd dog, ppdh, case report, pericardial effusion, pseudocyst
MeSH terms: Case Reports

Objective: This study aims to describe an unusual peritoneopericardial diaphragmatic hernia (PPDH) in an 8-month-old German shepherd dog, associated with a pericardial pseudocyst and coexisting severe pericardial effusion resulting in right-sided heart failure. Case Summary: An 8-month-old, male, intact, German shepherd dog, was referred for ascites. Echocardiography revealed a severe pericardial effusion with a cyst-like structure within the pericardium and consequently decompensated right-sided heart failure. The ascites was secondary to right-sided heart failure (cardiac tamponade). Computed tomography (CT) of the thorax and abdomen was performed and showed PPDH with severe pericardial effusion and presence of a pericardial cyst-like structure; xyphoid cleft and Y-shaped seventh sternebra; and mild thickening along the cranioventral abdominal wall consistent with scar tissue from the previous umbilical hernia surgical repair. During surgery, the PPDH was corrected, and it was revealed that the remnant of the umbilical cord passed through it, into the pericardium. The cyst-like structure was successfully resected and sent for pathology. Histopathology showed signs of a chronic suppurative inflammation, with absence of a mesothelial or endothelial wall layer, thus consistent with a pseudocyst. Based on tomographic and surgical findings, it is suspected that the pseudocyst, together with the pericardial effusion, evolved by an inflammation of the remnant of the umbilical cord during the umbilical hernia surgical repair 1 month prior to presentation. The underlying PPDH most likely favored the development of the pericardial pseudocyst. However, due to prior antibiotic therapy initiated by the private vet, an infectious origin cannot be ruled out completely. New or Unique Information Provided: There are a few case reports describing PPDH and/or pericardial pseudocysts in veterinary patients, but the current case report is unique, since it describes PPDH associated with a pericardial pseudocyst and coexisting severe pericardial effusion resulting in cardiac tamponade. As far as the authors know, such a case has not been described in veterinary medicine before.
Localized acquired hypertrichosis associated with the application of a splint
Authors: Alexander K C Leung, Andrew S Wong
Journal: Case Rep Pediatr (2012)
MeSH terms: Case Reports

We describe a 16-year-old boy whose left forearm and hand were cut by a piece of glass from a broken window as a result of the fall. He had surgical repair of his left extensor pollicis brevis, abductor pollicis brevis, and dorsal branch of the left radial nerve. Following the surgery, he was put on a splint so as to immobilize the left forearm and wrist. On removal of the splint 4 weeks post surgery, he was noticed to have more hair growth on his left forearm and hand than his right counterparts. The patient was reassessed 2, 4, and 8 months after the removal of the splint. The hypertrichosis got better with time. At the last visit, the hair growth in the left forearm and hand was back to normal. Our patient represents the first reported case of localized acquired hypertrichosis following the application of a splint in the pediatric literature.
Fibrinolysinoma after direct injection of fibrinolysin for treatment of nasal tip swelling: a case report
Authors: Abdoljalil Kalantar Hormozi, Seyed Reza Rafei
Journal: World J Plast Surg (2012)
Keywords: fibrinolysin, polybeak deformity, rhinoplasty, supratip deformity, tip edema
MeSH terms: Case Reports

Rhinoplasty is one of the most common aesthetic procedures in the world. It is the most common aesthetic surgery procedure in Iran. Achieving complete patient satisfaction is almost impossible but improving the aesthetics and function of the nose is the aim of surgery. This report describes a 34 years old woman with a large bump in the tip of the nose after three times cosmetic rhinoplasties. The first time was done 4 years before referral to our center as a reduction rhinoplasty operation. The next two subsequent surgeries were performed for revision and correcting the dorsal irregularities and supra tip bulge. Unfortunately the supratip bulge persisted and subsequent subcutaneous injections of corticosteroids and fibrinolysin were carried out. She developed a bulbous tip nose deformity. Therefore, after a few months; she was referred to our center. Surgical exploration showed a lesion in the supratip region and histopathologic examination showed a foreign body reaction and granuloma formation.
A case of renal cell carcinoma with microscopic pulmonary tumor embolism proven by surgical lung biopsy
Authors: Takuma Katano, Toyonori Tsuzuki, Hiroki Numanami, Naoto Sassa, Toshio Kato, Akihito Kubo, Satoru Ito
Journal: Respir Med Case Rep (2022)
Keywords: ggo, ground glass opacities, micronodules, pte, pulmonary tumor embolism, pulmonary tumor embolism, renal cell carcinoma, respiratory failure, spo2, peripheral oxygen saturation, surgical lung biopsy, mmrc, modified medical research council dyspnea scale
MeSH terms: Case Reports

Pulmonary tumor embolism (PTE) is difficult to diagnose before death. We report the case of a 75-year-old man with microscopic PTE of renal cell carcinoma who was diagnosed by surgical lung biopsy. He visited our hospital because of dyspnea on exertion. Chest computed tomography (CT) showed multiple micronodules and ground glass opacities. Steroid therapy was started as therapeutic diagnosis for IgG4-related pulmonary disease. However, he was admitted our hospital due to progressive respiratory failure. Pathological findings of a lung biopsy obtained by video-assisted thoracic surgery showed PTE of renal cell carcinoma without embolization of large pulmonary arteries. He received palliative medicine and died four months after the surgical lung biopsy. In cases of multiple micronodules in chest CT findings and worsened respiratory symptoms, PTE should be considered in the differential diagnosis.
Rectal stromal tumor with an exceptional liver and bone metastatic locations
Authors: Dougaz Mohamed Wejih, Gouta Esma Leila, Chaouch Mohamed Ali, Nouira Ramzi, Bouasker Ibtissem, Dziri Chadli
Journal: Pan Afr Med J (2019)
Keywords: stromal tumor, gastrointestinal neoplasm, metastases
MeSH terms: Bone Neoplasms / diagnosis, Gastrointestinal Stromal Tumors / diagnosis, Liver Neoplasms / diagnosis, Rectal Neoplasms / diagnosis, Case Reports, Adult, Antineoplastic Agents / administration & dosage, Bone Neoplasms / drug therapy, Bone Neoplasms / secondary, Gastrointestinal Stromal Tumors / drug therapy, Gastrointestinal Stromal Tumors / pathology, Humans, Imatinib Mesylate / administration & dosage, Liver Neoplasms / drug therapy, Liver Neoplasms / secondary, Male, Rectal Neoplasms / drug therapy, Rectal Neoplasms / pathology, Tomography, X-Ray Computed, Antineoplastic Agents, Imatinib Mesylate

Gastrointestinal stromal tumours (GIST) are rare mesenchymal tumours which represent 1% to 3% of gastrointestinal neoplasm. Rectal location of GIST is extremely rare reaching 5% of GIST and only 0.1% of rectal tumours. They usually metastases to the liver (65%) and exceptionally to the bone (3%). We reported a case of rectal stromal tumour with an exceptional metastasis located in the rib. A 40-year-old man who presented with pelvic pain, associated with rectal syndrome, rectal bleeding and subocclusive episodes. Physical examination objectified a tough, budding rectal mass, with a smooth wall, localized 3cm above of anal margin. A Thoraco-abdominal computed tomography showed a large heterogeneous tissue mass, taking the whole pelvis, coming from the right-side wall of the rectum of 17.3 x 14cm. It was associated with liver and bone secondary locations. Biopsies confirmed the secondary locations of an intermediate risk GIST. Immunohistochemical study showed an overexpression of c-kit protein (CD117) and Dog1. Imatinib was prescribed to reduce the tumour size. Stromal metastatic rectal tumours in bone level are extremely rare conditions. The diagnosis is confirmed by histological examination with immune histochemical analysis. The prognosis remains poor in metastatic forms but it has been improved since the introduction of Imatinib.
Case report: "Congenital cutaneous langerhans cell histiocytosis presenting with blueberry Muffin Rash"
Authors: Mariam Thalji, Asil Yagmour, Dania Alameh, Hanin Shatrit, Mais Inerat, Sami Issa Bannoura, Amir Atawneh, Motee Abuawaad
Journal: Front Pediatr (2022)
Keywords: dermatology, hashimoto pritzker disease, hematology, langerhans cell histiocytosis (lch), muffin rash, pediatric hematological diseases, pediatrics
MeSH terms: Case Reports

Congenital cutaneous Langerhans cell histiocytosis-(LCH), named Hashimoto Pritzker disease, is a rare subtype among the clinical spectrum of LCH that often presents at birth or through the neonatal term and spontaneously resolve within a few months. In rare instances, infants with congenital cutaneous LCH may present with a blueberry-muffin rash. We reported a case of a male newborn who presented with blueberry muffin rash and was diagnosed with congenital cutaneous LCH later on. The diagnosis was confirmed by excluding other possible systemic causes of blueberry muffin rash, followed by a skin biopsy. Skin biopsy showed reticular dermis-hypodermis infiltration by medium-sized cells which had a pale eosinophilic cytoplasm and irregular nuclei. The lesional cells were positive for Langerin, CD1a, S100, and CD68 immunostains, consistent with congenital cutaneous LCH. Investigations were performed and revealed no systematic disease involvement. After a discussion with the pediatric Hemato-Oncologist, the decision was to keep track of a "wait-and-see" approach. Long-term follow-up revealed no recurrence of the cutaneous lesions or any systemic involvement, which further leads to congenital cutaneous LCH diagnosis. Even though it is very rare, blueberry muffin rash differential diagnosis should include congenital cutaneous LCH. Early recognition of this condition protects patients from unnecessary and possibly unsafe systemic treatment.
Case Report: An Adolescent Soft Tissue Sarcoma With YWHAE-NUTM2B Fusion Is Effectively Treated With Combined Therapy of Epirubicin and Anlotinib
Authors: Jiajia He, Yanjie Xu, Xuefeng Ni, Dachuan Zhang, Jiemin Zhao
Journal: Front Oncol (2022)
Keywords: ywhae-nutm2b, adolescent, anlotinib, epirubicin, soft tissue sarcoma
MeSH terms: Case Reports

Soft tissue sarcoma is a relatively rare entity that comprises heterogeneous types of tumors. Here we report the case of a 14-year-old girl with pelvic sarcoma with a YWHAE-NUTM2B fusion gene. This fusion transcript has been reported in endometrial stromal sarcomas and clear cell renal sarcomas, but its description in pelvic sarcomas is recent. To our knowledge, this is the first case report describing this translocation in an adolescent patient with soft tissue sarcoma. The patient underwent cytoreductive surgery, followed by systemic chemotherapy and targeted drug treatment. Surprisingly, the treatment was effective, and the young patient is being followed up in our department.
Safety of redo hepatectomy for colorectal liver metastases after selective interarterial radiation therapy: a case report
Authors: Kyriakos Neofytou, Harpreet Wasan, Satvinder Mudan
Journal: Case Rep Surg (2014)

Surgical resection is the only potentially curative strategy in the treatment of patients with colorectal liver metastases (CLM). Unfortunately, only about 10%-15% of patients are candidates for resection. Preoperative chemotherapy aims to increase the number of patients that may be eligible for liver resection by downsizing liver metastases. For patients with unresectable, chemotherapy refractory CLM the available treatment options are limited. Selective interarterial radiation therapy (SIRT) is one of the most promising treatment options for this group of patients. Although only a small number of these patients have been reported as becoming candidates for potentially curative hepatic resection following sufficient reduction in the volume of liver metastases, the question arises regarding the safety of liver resection in these patients. We report a case of a patient who presented unresectable liver relapse of CLM after previous right hepatectomy. He underwent SIRT which resulted in downsizing of the liver metastases making the patient candidate for left lateral sectionectomy. He underwent the redo hepatectomy without any complications. To the best of our knowledge, this is the first reported case of redo hepatectomy after SIRT for CLM.
Chronic Subdural Hematoma Caused by Acute Myeloblastic Leukemia: A Case Report
Authors: Guangwen Xia, Weitao Zhang, Jing Xiao, Lin Shi, Yiming Zhang, Hang Xue
Journal: Front Neurol (2022)
Keywords: acute myeloblastic leukemia, chronic subdural hematoma, drugs, mechanism, surgery
MeSH terms: Case Reports

Chronic subdural hematoma, a common neurosurgical disease, is mostly caused by craniocerebral trauma. Chronic subdural hematoma caused by acute myeloblastic leukemia is rarely reported, and its pathogenesis and strategies for clinical treatment remain controversial. Here, we report a rare case of chronic subdural hematoma caused by acute myeloblastic leukemia. The patient's condition deteriorated quickly after admission, and emergency trepanation and drainage of the chronic subdural hematoma was performed, followed by oral administration of atorvastatin. The platelet levels continued to decrease during neurosurgical treatment. Bone marrow cytology, flow cytology, and karyotype analysis suggested acute myelocytic leukemia (AML). Then, the patient was transferred to the hematology department for chemotherapy treatment, during which there was no recurrence of hematoma. Chronic subdural hematoma caused by acute myeloblastic leukemia is a very rare disease. Surgery should be performed when the intracranial hematoma is more than 10 mm thick and the midline structures are displaced by more than 5 mm, and postoperative treatment should be supplemented with atorvastatin to prevent recurrence. Chemotherapy should be given promptly to treat leukemia after stabilization of neurological conditions.
Maxillary Sinus Kaposi Sarcoma: Case Report in an HIV-Negative Patient with Thymoma
Authors: Bernardo Carvalho Araújo, Sara Viana Baptista, Luís Mascarenhas, Ezequiel Barros
Journal: Case Rep Otolaryngol (2017)
MeSH terms: Case Reports

Introduction:
Kaposi sarcoma is an angioproliferative disorder that requires infection with human herpesvirus 8 (HHV-8) for its development. The majority of cases are associated with HIV infection or other immunocompromising conditions. Thymomas are occasionally associated to cytopenia, which may alter the patients' immune responses.
Methods:
Case report using clinical records.
Results:
Case report of a 46-year-old male patient diagnosed with thymoma and myasthenia gravis. The patient was referred to an otolaryngology consultation with complaints of facial pain in the right malar region, interpreted as an acute sinusitis. Following examination, an expansive maxillary sinus mass was found, and endoscopic surgery was undertaken. After careful investigation, it was diagnosed as a Kaposi sarcoma.
Conclusions:
It is thought to be the first described case of a maxillary sinus Kaposi sarcoma in an HIV-negative patient. Thus, this entity has to be considered in the differential diagnosis of sinus masses, even in non-HIV patients.
Variability in Clinical Presentation of Neonatal Stroke: Report of Four Cases
Authors: Sonia Joseph, Dimitrios Angelis, Robert Bennett, Bhargavi Kola, Amanda Hughes
Journal: Case Rep Neurol Med (2017)
MeSH terms: Case Reports

Neonatal stroke can be a cause of long term neurodevelopmental disability, seizures, and impaired cognitive function. We present four cases of neonatal stroke, associated with different risk factors and clinical presentations. Two of these newborns were born to mothers with no prenatal care.
Enlargement of the brachial plexus on magnetic resonance imaging: a novel finding in adult-onset Krabbe disease
Authors: Takashi Hiyama, Tomohiko Masumoto, Tadashi Hara, Akira Kunimatsu, Naomi Mamada, Nakamagoe Kiyotaka, Minami Manabu
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Adult-onset Krabbe disease is an autosomal recessive degenerative leukodystrophy that presents with bilateral corticospinal tract involvement on MRI. Although peripheral nerve involvement is a known manifestation of Krabbe disease, MRI findings of peripheral nerve abnormalities are limited to the cranial nerves and spinal nerve roots. In this case report, we discuss two cases of adult-onset Krabbe disease with brachial plexus enlargement on MRI. Adult-onset Krabbe disease should be included in the differential diagnoses when brachial plexus enlargement and white matter lesions involving corticospinal tracts present simultaneously.
Perioperative Bilateral Medial Medullary Infarction With "Snake Eyes Appearance": A Case Report
Authors: Yicheng Xu, Ke Li, Xinlu Yao, Qiyan Yang, Peifu Wang
Journal: Front Med (Lausanne) (2021)
Keywords: guillain-barre syndrome, atherosclerosis, case report, coronary artery bypass, magnetic resonance imaging, perioperative care, stroke
MeSH terms: Case Reports

Perioperative bilateral medial medullary infarction (BMMI) cases mimicking acute motor axonal neuropathy (AMAN) under general anesthesia have not been reported. We describe a patient who suffered flaccid quadriplegia and could not wean from mechanical ventilation after emergence from general anesthesia in cardiac surgery. A diagnosis of AMAN was considered, but intravenous immunoglobulin showed little efficacy. Magnetic resonance imaging of the patient later revealed BMMI with "snake eyes appearance," and he was found to have severe vertebral artery stenosis. Considering the association between severe coronary heart disease and cerebrovascular stenosis, we highlight the significance of preoperative evaluation and comprehensive management of the cerebrovascular system for certain patients.