OpenMed/multicare-articles huggingface dataset:
First Case of Ewingella americana Meningitis in a Term Newborn: A Rare but Real Pathogen
Authors: Sarah Meisler, Ranjith Kamity, Asif Noor, Leonard Krilov, Caterina Tiozzo
Journal: Front Pediatr (2020)
Keywords: ewingella americana, emergent pathogens, gram negative anaerobic bacteria, meningitis, neonatal sepsis, newborn
MeSH terms: Case Reports

Ewingella americana is a Gram-negative, catalase positive and anaerobic enterobacterium first described in 1983. Infections caused by this pathogen, such as bacteremia and pneumonia, are extremely rare and primarily occur in patients with underlying pathologies or immunosuppression. There is still a debate as to whether Ewingella americana is a real pathogen or if it can be considered an opportunistic infectious agent. We report the first documented case of Ewingella americana meningitis in literature and the first case of this pathogen causing infection in a newborn. Case presentation: A term newborn male was born via spontaneous vaginal delivery to a Gravida 2 Para 0, 28 year old woman with negative prenatal screening tests with a birth weight of 4.70 kilograms and Apgar scores of 9 and 9 at 1 and 5 minutes respectively. Rupture of membranes was 27 hours prior to delivery. Infant was noted to be febrile to 101°F at birth, so infant was admitted in the neonatal intensive care unit and started empirically on ampicillin and gentamycin. Cerebrospinal fluid (CSF) drawn due to irritability on day of life 1 presented normal cell and protein count but grew Gram negative rods after 2 days, identified subsequently as Ewingella americana; repeat CSF analysis done at 6 days of life showed pleocytosis. Brain MRI performed at 2 weeks of life showed leptomeningitis. The infant was treated with ceftazidime for 21 days from the first negative CSF culture. He has since followed up with the neurologist and infectious disease specialist. He had a normal electroencephalogram (EEG) and is meeting all developmental milestones at the 24 months of age follow up visit. Conclusion: Our case highlights that Ewingella americana can cause serious invasive infections such as meningitis in the neonatal period with minimal symptomatology. Antibiotic treatment in the neonatal period can present challenges due to the Ewingella americana's variable sensitivity. The role of these emerging low virulence organisms in causing infections has to be further elucidated, especially in vulnerable patients such as newborns.
Anorectal Malformation with Rectovestibular Fistula and Vaginal Agenesis: Usage of Rectovestibular Fistula as a Neovagina Followed by PSARP with Preservation of the Anal Sphincter
Authors: Antonio Dessanti, Osnel Louisma, Gabriel Steve Pierre, Nguhien Thanh Liem
Journal: European J Pediatr Surg Rep (2021)
Keywords: anorectal malformation, posterior sagittal anorectoplasty, vaginal agenesis, vaginoplasty
MeSH terms: Case Reports

Anorectal malformation with rectovestibular fistula associated with vaginal agenesis is rare. We report on a child in whom this combination was diagnosed at the age of 1 year. After creation of a divided descending colostomy, we chose to leave the rectum-rectovestibular fistula to function as a neovagina, while the sigmoid colon was relocated via modified posterior sagittal anorectoplasty. The colostomy was closed 6 months after the main surgery. After a follow-up of 3 years, the patient is continent for stool and urine. The introitus of the neovagina appears wide and easy to explore. We conclude that our surgical approach may be a good option for these children.
An Untypical Case of Gouty Infiltration of Both Peroneal Tendons and a Longitudinal Lesion of the Peroneus Brevis Tendon Mimicking Synovial Sarcoma
Authors: Konstantinos Anagnostakos, Andreas Thiery, Christof Meyer, Octavian Tapos
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

We present a case of a 70-year-old male patient with an untypical gout infiltration of the peroneal tendons mimicking synovial sarcoma. The patient had a negative history of gout at initial presentation in our department. Magnetic resonance imaging of the region revealed a finding highly suspicious for synovial sarcoma of the peroneal tendons. Open biopsy was performed. Histopathological examination of the tissue samples demonstrated the presence of gout with no signs of malignancy. The gout infiltration was excised in a subsequent surgery. Orthopedic surgeons should be aware of the potential manifestation of gout in tendons and bear this in mind in the differential diagnosis of soft tissue tumors.
Visceral Leishmaniasis in Traveler to Guyana Caused by Leishmania siamensis, London, UK
Authors: Spencer D Polley, Julie Watson, Peter L Chiodini, Diana N J Lockwood
Journal: Emerg Infect Dis (2018)
Keywords: leishmania siamensis, parasites, visceral leishmaniasis, zoonosis, phlebotomine sand fly, sergentomyia (neophlebotomus) gemmea, anthropophilic, zoophilic, authochthonous, hepatosplenomegaly, cervical lymphadenopathy, sequence typing, sandflies, zoonoses, guyana, south america, thailand
MeSH terms: Leishmania / classification, Leishmaniasis, Visceral / epidemiology, Leishmaniasis, Visceral / parasitology, Case Reports, Letter, Research Support, Non-U.S. Gov't, Aged, Amphotericin B / therapeutic use, Antiprotozoal Agents / therapeutic use, DNA, Intergenic / genetics, DNA, Protozoan / genetics, Female, Guyana / epidemiology, Humans, Leishmania / genetics, Leishmaniasis, Visceral / drug therapy, London / epidemiology, Polymorphism, Restriction Fragment Length, Travel, Antiprotozoal Agents, DNA, Intergenic, DNA, Protozoan, liposomal amphotericin B, Amphotericin B

The parasite Leishmania siamensis is a zoonotic agent of leishmaniasis; infection in animals has been documented in Europe and the United States. Reported authochthonous human infections have been limited to Thailand. We report a case of human visceral Leishmania siamensis infection acquired in Guyana, suggesting colonization in South America.
First case report of an intracortical lipoma in an adult tibia
Authors: Soo Yong Kang, Hyoung-Seok Jung, Jae Sung Lee, Ho-Joong Jung
Journal: Oncol Lett (2014)
Keywords: diaphysis, intracortical lipoma, magnetic resonance imaging, tibia

The current case report describes an adult male with an intracortical lipoma accompanied by cystic changes in the tibial diaphysis. To the best of our knowledge, intracortical lipoma in an adult tibia has not been previously described. An anteroposterior radiograph of the tibia revealed an osteolytic lesion on the diaphysis. Magnetic resonance imaging and computed tomography revealed that the lesion was located in the cortex and consisted of fat and cyst tissue. Surgical excision of the lesion confirmed diagnosis of an intracortical lipoma.
Ophthalmic findings of congenital insensitivity to pain with anhidrosis with a novel neurotrophic tyrosine kinase receptor type 1 gene mutation: A case report
Authors: Rong Zhu, Yuxiang Zhu, Mingpeng Xu, Zhensheng Gu
Journal: Front Med (Lausanne) (2022)
Keywords: ntrk1, congenital insensitivity to pain with anhidrosis (cipa), cornea, dry eye, neurotrophic keratopathy
MeSH terms: Case Reports

We report a case of congenital insensitivity to pain with anhidrosis (CIPA) with a novel neurotrophic tyrosine kinase receptor type 1 (NTRK1) gene mutation. The patient suffered from recurrent corneal ulcer. A slit-lamp examination revealed ciliary hyperemia, bulbar conjunctival edema, epithelial defect, and ulcer lesion in the inferior part of the cornea, local corneal stromal edema accompanied by new vascular growth in his affected eye. In addition, the corneal sensitivity and nerve fiber density decreased significantly in both eyes. Tear film break-up time and Schirmer's I test were below lower limit. Moreover, the patient exhibited typical systemic features, including no normal response to pain stimuli, anhidrosis and self-injurious behavior. Gene sequencing revealed a compound-heterozygous mutations in NTRK1 gene: a missense mutation inherited from his mother (c.1750G > A, P.E584K) and a new splicing mutation inherited from his father (c.2187 + 5G > C). After 8 weeks of medication, the corneal ulcer basically healed. This study expands the spectrum of NTRK1 gene mutation associated with CIPA and provides a feasible approach for clinicians to treat patients with CIPA-related keratopathy.
Normalized Ploidy Following 20 Consecutive Blastocysts with Chromosomal Error: Healthy 46, XY Pregnancy with IVF after Intraovarian Injection of Autologous Enriched Platelet-derived Growth Factors
Authors: E Scott Sills, Natalie S Rickers, Channel S Svid, J M Rickers, Samuel H Wood
Journal: Int J Mol Cell Med (2019)
Keywords: reproductive outcome, blastocyst, cytokines, ploidy
MeSH terms: Case Reports

One explanation for why downstream gonadotropin protocol changes during IVF commonly arrive too late to have significant effects is that embryo development actually begins during oogenesis. Thus, efforts to modify the chromosomal status of blastocysts must address the ovarian milieu well in advance of follicular recruitment. A 42 year old woman with primary infertility of 3 year duration attended with her partner. Five previous IVF cycles had produced 20 embryos, but all had genetic abnormalities and no embryo transfer was performed. Karyotypes and all lab tests were normal for both partners. 3 months before her IVF here, she received isolated platelet-derived growth factors injected into both ovaries as a cell-free, enriched substrate. Genetic assessments were via whole genome amplification and DNA tagmentation and PCR adapter sequences. Comprehensive chromosomal screening was carried out by dual-indexed sequencing of pooled libraries on the MiSeq™ platform. From this IVF cycle one euploid 46, XY blastocyst was produced and vitrified on the day of trophectoderm biopsy. 9 days after frozen embryo transfer, serum human chorionic gonadotropin was 250 mIU/ml and a transvaginal ultrasound at 6 week gestation confirmed a single intrauterine pregnancy with fetal heart at 153/min. A healthy male infant was delivered by c-section at 39 weeks' gestation. While cellular and molecular events directing the oocyte-to-embryo transition are incompletely characterized, processes related to ovarian stem cell differentiation, mitochondrial dynamics, and mRNA storage, translation, and degradation likely are relevant. It appears that intraovarian application of autologous platelet-derived growth factors, when used before IVF, can impact oocyte integrity and facilitate euploid blastocyst development. Although research on intraovarian injection of autologous activated platelet rich plasma has already shown improved quantitative IVF responses, this is the first description of qualitative improvements in embryo genetics after intraovarian injection of autologous platelet-derived growth factors.
Case report: A case of epidermolysis bullosa acquisita with IgG and IgM anti-basement membrane zone antibodies relapsed after COVID-19 mRNA vaccination
Authors: Satoko Minakawa, Yasushi Matsuzaki, Shogo Yao, Chihiro Sagara, Eijiro Akasaka, Hiroshi Koga, Norito Ishii, Takashi Hashimoto, Daisuke Sawamura
Journal: Front Med (Lausanne) (2023)
Keywords: eba, autoimmune blistering diseases, enzyme-linked immunosorbent assay (elisa), immunofluorescence, type vii collagen
MeSH terms: Case Reports

We report a case of autoimmune bullous disease (AIBD) with IgG and IgM autoantibodies against epidermal basement membrane zone (BMZ), which showed recurrence of mucocutaneous lesions after coronavirus disease 2019 (COVID-19) mRNA vaccination. A 20-year-old Japanese woman with a 4-year history of epidermolysis bullosa acquisita (EBA) presented to our clinic. She noticed fever and rash on the same day and visited at our hospital 2 days later. Physical examination revealed blisters, erosions and erythema on the face, shoulder, back, upper arms, and lower lip. A skin biopsy from the forehead showed subepidermal blister. Direct immunofluorescence showed linear depositions of IgG, IgM, and C3c in the epidermal BMZ. By indirect immunofluorescence of 1M NaCl-split normal human skin, circulating IgG autoantibodies were bound to the dermal side of the split at 1:40 serum dilution, and circulating IgM antibodies were bound to the epidermal side of the spilt. After the increase of prednisolone dose to 15 mg/day, the mucocutaneous lesions resolved in a week. The present case is the first case of possible EBA with IgG and IgM anti-BMZ antibodies, in which the mucocutaneous lesions were recurred after COVID-19 mRNA vaccination. Clinicians should be aware that bullous pemphigoid-like AIBDs, including EBA and IgM pemphigoid, might be developed after COVID-19 mRNA vaccination.
Transvesical enucleation of multiple leiomyoma of bladder and urethra
Authors: Alireza Ghadian, Seyyed Yousef Hoseini
Journal: Nephrourol Mon (2013)
Keywords: enucleaion, leiomyoma, urinary bladder
MeSH terms: Case Reports

Although bladder leiomyoma is rare, this is the most frequent nonepithelial benign tumor of the bladder. Symptoms and treatment depend on location and size of the lesion as well. The optional treatment is a total enucleation or partial cystectomy, although in biopsy proved cases watchful waiting is an option, surgery should be considered as the tumor grows or symptoms are observed. The etiology of bladder leiomyoma is unknown. Uterine leiomyoma is known to be estrogen responsive. The premenopausal women are prevalent in the fourth decade.
Unusual case of inflammatory myofibroblastic tumor in maxilla
Authors: Jaana Rautava, Tero Soukka, Esko Peltonen, Petri Nurmenniemi, Markku Kallajoki, Stina Syrjänen
Journal: Case Rep Dent (2013)

Inflammatory myofibroblastic tumor (IMT) is a rare lesion found mostly in children and young adults and originates from the lung, abdominopelvic region, and retroperitoneum. Clinical manifestations of IMT or imaging are nonspecific and diagnosis is based on histopathological and immunohistochemical findings. Minority of all IMTs will metastasize. IMT in the oral cavity is an extreme rarity and this is a first case report of IMT in maxilla causing delayed tooth eruption and multiple cervical root resorption with an 11-year-old child. The IMT reported here was positive for smooth muscle actin, vimentin, and anaplastic lymphoma kinase (ALK1) with immunohistochemistry. Only three IMTs of the jaws have been reported so far and none of them had delayed root eruption and tooth resorption. This unusual case of IMT in a child was also ALK1- positive supporting neoplastic origin of her tumor. The case presented here underscores the importance of histopathological examination of the tissue found in any root resorption especially in the case of multiple resorptions.
Vagal Paraganglioma Presenting as a Neck Mass Associated with Cough on Palpation
Authors: Richard Heyes, Nizar Taki, Miriam A O'Leary
Journal: Case Rep Otolaryngol (2017)
MeSH terms: Case Reports

A 70-year-old female presented with a neck mass and sporadic dry cough, often leading to fits of coughing severe enough to cause vomiting. The patient reported that touching the mass triggered the cough. On examination, a 2.5 cm right-sided level two neck mass deep to the sternocleidomastoid was present. Palpation of the mass immediately triggered coughing. Cross-sectional imaging proposed vagal paraganglioma as the chief differential, which was confirmed following surgical excision. The patient reported complete resolution of her severe dry cough after surgery. Vagal paragangliomas are rare neuroendocrine tumors arising from the neural crest-derived paraganglionic tissue surrounding the vagus nerve, typically presenting as a neck mass associated with hoarseness or pulsatile tinnitus. To the best of our knowledge this is a unique description in the English literature. This case is presented to aid physicians should they encounter a neck mass associated with cough. Vagal paraganglioma, although rare, should be part of the differential in such a presentation.
Clinicopathologic features of gastric glomus tumor: A report of 15 cases and literature review
Authors: Minying Deng, Rongkui Luo, Jie Huang, Yuanlong Luo, Qi Song, Huaiyu Liang, Chen Xu, Wei Yuan, Yingyong Hou
Journal: Pathol Oncol Res (2023)
Keywords: gastric tumor, glomus tumor, immunohistochemistry, molecular genetics, prognosis
MeSH terms: Glomus Tumor / diagnosis, Glomus Tumor / pathology, Glomus Tumor / surgery, Stomach Neoplasms / genetics, Review, Case Reports, Adult, Aged, Female, Humans, Kelch-Like ECH-Associated Protein 1 / metabolism, Male, Middle Aged, NF-E2-Related Factor 2 / metabolism, Retrospective Studies, Kelch-Like ECH-Associated Protein 1, NF-E2-Related Factor 2

Objective: Glomus tumor is a relatively uncommon soft tissue neoplasm predominantly occurring in upper extremity (fingers), less reported in stomach. This study aimed to discuss the clinicopathologic features of gastric glomus tumor (GGT) and then provide reference for clinical practice. Methods: A retrospective analysis of all cases pathologically diagnosed of GGT was performed, pathological findings were correlated with clinical information, immunohistochemical studies, next-generation sequencing, and patient follow-ups. A review of literature by searching similar cases was conducted to summarize previous knowledge of GGTs. Results: Our study identified 15 GGTs included 5 males and 10 females, aged between 35-75 years old (median, 49 years old). The tumor was located to the gastric corpus in 6 cases (40%) and to the antrum in 9 cases (60%). The maximum tumor diameter ranged between 1-4 cm (median, 1.5 cm). There were 11 cases (73%) of solid glomus tumor, 3 cases (20%) of mixture of solid glomus tumor and glomangioma, and 1 case (7%) of glomangiomyoma. Partial spindle cell area was observed in 3 cases (20%), moderate cellular atypia in 1 case (7%), atypical mitosis in 1 case (7%), vascular invasion in 5 cases (33%), neural invasion in 6 cases (40%) and tumor necrosis in 1 case (7%). Tumor cells expressed Collagen type IV, α-smooth muscle actin (α-SMA), and synaptophysin in most cases. The Ki67 index varied from 1% to 30%. Next-generation sequencing reported EGFR, PIK3CA, KEAP1 and TP53 mutation. The outcome information was obtained in 12 (80%) cases, followed for 6-63 months, 11 patients (92%) had tumor-free survival and 1 patient (8%) developed liver metastasis 26 months after surgery. Literature review obtained 16 previously reported malignant GGT cases. In terms of the total 31 cases, univariate analysis revealed that the atypical mitosis (OS: p = 0.009; DFS: p = 0.010) and severe cellular atypia (OS: p = 0.007; DFS: p = 0.004) were significantly associated with poor prognosis (patient death). Conclusion: GGT is indolent, while long-term close follow-up should be required in the presence of increasing number of risk factors. Malignant GGT is relatively uncommon and predisposes to liver metastasis, calling for accumulation of large-sample data and experience.
Novel AQP2 Mutations and Clinical Characteristics in Seven Chinese Families With Congenital Nephrogenic Diabetes Insipidus
Authors: Qian Li, Dan Tian, Jing Cen, Lian Duan, Weibo Xia
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: nephrogenic diabetes insipidus, aquaporin-2, mutation, vasopressin v2 receptor, water resorption
MeSH terms: Aquaporin 2 / genetics, Diabetes Insipidus, Nephrogenic / genetics, Mutation, Research Support, Non-U.S. Gov't, Adult, Age of Onset, Child, Child, Preschool, China, DNA Mutational Analysis, Genetic Association Studies, Humans, Infant, Male, Pedigree, Polyuria / genetics, Young Adult, Aquaporin 2

Objective:
Mutations in AQP2 (aquaporin-2) lead to rare congenital nephrogenic diabetes insipidus (NDI), which has been limitedly studied in Chinese population.
Methods:
Twenty-five subjects from seven families with NDI in a department (Beijing, PUMCH) were screened for AQP2 mutations. Clinical characteristics were described and genotype-phenotype correlation analysis was performed.
Results:
We identified 9 AQP2 mutations in 13 patients with NDI, including 3 novel AQP2 mutations (p.G165D, p.Q255RfsTer72 and IVS3-3delC). Missense mutations were the most common mutation type, followed by splicing mutations, and frameshift mutations caused by small deletion or insertion. The onset-age in our patients was younger than 1 year old. Common manifestations included polydipsia, polyuria (7/7) and intermittent fever (6/7). Less common presentations included short stature (3/7) and mental impairment (1/7). High osmotic hypernatremia and low osmotic urine were the main biochemical features. Dilation of the urinary tract was a common complication of NDI (3/6). Level of serum sodium in NDI patients with compound het AQP2 mutations was higher than non-compound het mutations.
Conclusion:
In the first and largest case series of NDI caused by AQP2 mutation in Chinese population, we identified 9 AQP2 mutations, including 3 novel mutations. Phenotype was found to correlate with genotypes, revealed by higher level of serum sodium in patients with compound het AQP2 mutations than non-compound het mutations. This knowledge broadens genotypic and phenotypic spectrum for rare congenital NDI and provided basis for studying molecular biology of AQP2.
Unresponsive shock due to amlodipine overdose: An unexpected cause
Authors: Shailesh Kumar, Devyani Thakur, Ritesh Kumar Gupta, Alka Sharma
Journal: J Cardiovasc Thorac Res (2018)
Keywords: hiet, shock, vasopressor
MeSH terms: Case Reports

Amlodipine is a dihydropyridine calcium channel blocker which is widely used as an antihypertensive drug. Amlodipine overdose have been infrequently reported with occurrence of serious complications and even death in a few cases. We report an interesting case of a young lady who presented with refractory shock with acute kidney injury, which did not respond to therapy despite optimal fluid replacement and vasopressor support. The etiology of shock could not be ascertained and the patient was questioned again to elucidate the missing clue in the history. It was finally revealed that the patient had consumed 900 mg of amlodipine in a suicide bid, for her poor performance in academics. The targeted therapy in the form of IV calcium and hyperinsulinemia-euglycemia therapy (HIET) was started and the patient dramatically improved with shock reversal and improvement in renal function.
Case Report: Identification of Polygenic Mutations by Exome Sequencing
Authors: Yanfeng Liu, Zhongshi Zheng, Qingling Zhu
Journal: Front Pediatr (2021)
Keywords: fgfr1, kat6b, slc4a1, distal renal tubular acidosis, gene mutation, genetic diseases
MeSH terms: Case Reports

The discovery of rare genetic variation through different gene sequencing methods is a very challenging subject in the field of human genetics. A case of a 1-year-old boy with metabolic acidosis and hypokalemia, a small penis, growth retardation, and G-6PD deficiency was reported. Since the clinical symptoms are complex and seem uncorrelated, the authors hypothesized that the child had chromosome or gene problems, and exome sequencing (ES) was applied to samples from him and his parents. Three main locus mutations in three genes were found in the proband, including SLC4A1, FGFR1, and G6PD genes. A missense mutation (c.1766G>T, p.R589 L) was found in exon 14 of SLC4A1 gene, which was a de novo mutation. Another missense mutation (c.1028 A>G, p.H343R) was found in exon 9 of FGFR1 gene, which was also a de novo mutation. These findings further demonstrate the utility of ES in the diagnosis of rare diseases.