OpenMed/multicare-articles huggingface dataset:
Surgical resection for accessory spleen torsion: A case report
Authors: Masatsugu Kuroiwa, Hiroto Takayama, Yuji Uchikawa, Ryo Shimada
Journal: Int J Surg Case Rep (2023)
Keywords: accessory spleen, case report, surgical treatment, torsion
MeSH terms: Case Reports

Introduction:
Accessory spleen torsion is extremely rare, and surgery is often the emergency or elective treatment of choice.
Presentation of case:
A 20-year-old female with no specific medical history presented to our outpatient clinic with a chief complaint of abdominal pain. The patient was diagnosed with accessory spleen torsion by computed tomography. However, the abdominal symptoms and inflammatory reaction based on blood tests were mild, so a conservative treatment was selected. Subsequently, blood tests were normalized, and imaging studies showed that the accessory spleen was shrinking. Contrast-enhanced examination showed contrast enhancement in a portion of the infarcted accessory spleen region, indicating that the accessory spleen torsion had been released. Surgical resection was performed to prevent possible future re-torsion and hemorrhage of the accessory spleen.
Discussion:
The removed specimen seemed to be normal accessory spleen tissue with clear infarcted foci edges. This artery showed evidence of luminal organization and untwisting of the occluded artery.
Conclusion:
This accessory spleen torsion was treated conservatively; however, the patient was referred for surgical treatment.
Novel mutations in the SCNN1A gene causing Pseudohypoaldosteronism type 1
Authors: Jian Wang, Tingting Yu, Lei Yin, Jing Li, Li Yu, Ye Shen, Yongguo Yu, Yongnian Shen, Qihua Fu
Journal: PLoS One (2013)
MeSH terms: Alternative Splicing, Epithelial Sodium Channels / genetics, Mutation, Pseudohypoaldosteronism / genetics, Case Reports, Research Support, Non-U.S. Gov't, Asian People, Base Sequence, Female, HEK293 Cells, Heterozygote, Homozygote, Humans, Infant, Infant, Newborn, Molecular Sequence Data, Pedigree, Pseudohypoaldosteronism / ethnology, RNA Splice Sites, Epithelial Sodium Channels, RNA Splice Sites, SCNN1A protein, human

Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disease characterized by resistance to the actions of aldosterone. Mutations in the subunit genes (SCNN1A, SCNN1B, SCNN1G) of the epithelial sodium channel (ENaC) and the NR3C2 gene encoding the mineralocorticoid receptor, result in systemic PHA1 and renal PHA1 respectively. Common clinical manifestations of PHA1 include salt wasting, hyperkalaemia, metabolic acidosis and elevated plasma aldosterone levels in the neonatal period. In this study, we describe the clinical and biochemical manifestations in two Chinese patients with systemic PHA1. Sequence analysis of the SCNN1A gene revealed a compound heterozygous mutation (c.1311delG and c.1439+1G>C) in one patient and a homozygous mutation (c.814_815insG) in another patient, all three variants are novel. Further analysis of the splicing pattern in a minigene construct showed that the c.1439+1G>C mutation can lead to the retainment of intron 9 as the 5'-donor splice site disappears during post-transcriptional processing of mRNA. In conclusion, our study identified three novel SCNN1A gene mutations in two Chinese patients with systemic PHA1.
De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis
Authors: Eva Maria Christina Schwaibold, Iris Bartels, Helmut Küster, Michael Lorenz, Peter Burfeind, Ronja Adam, Barbara Zoll
Journal: Mol Cytogenet (2014)
MeSH terms: Case Reports

Reported cases of "pure" duplication of the entire short arm of chromosome 16 (16p) are rare, with only 7 patients described in the literature. We report on a female infant with de novo 16p duplication localized to the short arm of chromosome 6, detected by chromosomal analysis and characterized by array CGH and fluorescence in situ hybridization. This baby girl presented with clinical symptoms characteristic of patients with duplications of the short arm of chromosome 16: psychomotor retardation, constitutional growth delay and specific dysmorphic features, including proximally placed hypoplastic thumbs. In addition, she exhibited evidence of neonatal hemochromatosis as shown by direct hyperbilirubinemia, iron overload and elevated liver enzyme levels. To our knowledge, this is the first report of signs of neonatal hemochromatosis in a patient with 16p duplication.
Case Report: Unilateral Sixth Cranial Nerve Palsy Associated With COVID-19 in a 2-year-old Child
Authors: Katrin Knoflach, Eva Holzapfel, Timo Roser, Lieselotte Rudolph, Marco Paolini, Maximilian Muenchhoff, Andreas Osterman, Matthias Griese, Matthias Kappler, Ulrich von Both
Journal: Front Pediatr (2021)
Keywords: covid-19, sars-cov-2, anti-sars-cov-2 antibodies, pediatric, sixth cranial nerve palsy
MeSH terms: Case Reports

Children have been described to show neurological symptoms in acute coronavirus disease 2019 (COVID-19) and multisystemic inflammatory syndrome in children (MIS-C). We present a 2-year-old boy's clinical course of unilateral acute sixth nerve palsy in the context of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Onset of the palsy in the otherwise healthy boy occurred seven days after symptoms attributed to acute infection had subsided respectively 3 weeks after onset of respiratory symptoms. SARS-CoV-2 specific IgG was detected in serum as well as in cerebrospinal fluid. The patient showed a prolonged but self-limiting course with a full recovery after three and a half months. This case illustrates in a detailed chronological sequence that sixth cranial nerve involvement may occur as post-infectious, self-limiting complication of pediatric SARS-CoV-2-infection thus expanding the neurological spectrum of symptoms for children with COVID-19. Clinicians should be aware of the possibility of post-infectious sixth nerve palsy related to SARS-CoV-2-infection particularly in view of recent respiratory tract infection or confirmed cases of SARS-CoV-2-infection amongst the patient's close contacts.
Primary malignant melanoma of the urinary bladder
Authors: Jalal Eddine El Ammari, Youness Ahallal, Mohammed Jamal El Fassi, Moulay Hassan Farih
Journal: Case Rep Urol (2011)
MeSH terms: Case Reports

Introduction. Primary melanoma of the urinary bladder is very rare. As far as we know, 19 cases have been reported worldwide, usually as case reports. Case Presentation. We present a 71-year-old male patient presented with a 2-month history of hematuria. Ultrasonography revealed a 5-cm-size mass located in the bladder trigone. A transurethral resection of the bladder tumor (TURBT) revealed a malignant melanoma. Evaluation for metastatic disease was negative. The patient deceased five months later before radical treatment could be performed. Conclusion. This is one more reported case of primary melanoma of the urinary bladder. The previously reported cases of bladder melanoma are reviewed. Therapy and prognosis are discussed.
Case Report: Ophthalmologic Evaluation Over a Long Follow-Up Time in a Patient With Wolfram Syndrome Type 2: Slowly Progressive Optic Neuropathy as a Possible Clinical Finding
Authors: Valentina Di Iorio, Enza Mozzillo, Francesco Maria Rosanio, Francesca Di Candia, Rita Genesio, Francesco Testa, Claudio Iovino, Adriana Franzese, Francesca Simonelli
Journal: Front Pediatr (2021)
Keywords: cisd2 gene, wolfram syndrome, neurodegeneration, non-autoimmune diabetes, optic atrophy, optic neuropathy
MeSH terms: Case Reports

Wolfram syndrome (WFS) is a rare autosomal recessive neurodegenerative disease whose diagnosis requires diabetes mellitus and optic atrophy (OA). WFS includes a wide spectrum of other possible complications such as diabetes insipidus, sensorineural deafness, urinary tract problems, neurological and psychiatric disorders. Most WFS patients show type 1 syndrome (WFS1) caused by mutations in the WFS1 gene, encoding Wolframin protein, while few patients are affected by WFS type 2 (WFS2) due to a pathogenetic variants in the CISD2 gene encoding an endoplasmic reticulum intermembrane small protein. WFS2 is considered a phenotypic and genotypic variant of WFS, from which differs only for the increased risk of bleeding and presence of peptic ulcers. OA and diabetes are considered cardinal features of WFS. We hereby report the ophthalmologic evaluation in a patient, previously described, with WFS2 after 8 years of follow-up. A 20-year-old white woman was referred to our retinal center for the first time in 2012 following a diagnosis of a novel intragenic exon 2 CISD2 homozygous deletion, for the suspicion of an associated bilateral OA. Fundus examination, spectral-domain optical coherence tomography, visual field, visual evoked potentials were performed and confirmed the presence of an optic neuropathy that remained stable over 8 years follow up. A slowly progressive optic neuropathy, rather than OA can characterize patients with WFS2 and CISD2 intragenic deletion.
Long-Term Outcomes of Nonextraction Treatment in a Patient with Severe Mandibular Crowding
Authors: Vincenzo Grassia, Ludovica Nucci, Paola Martina Marra, Gaetano Isola, Angelo Itro, Letizia Perillo
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

Objective:
To describe a clinical case with a severe mandibular crowding treated without extraction and showing a long-term outcome.
Methods:
A 14-year-old boy in permanent dentition showed a class I molar and cuspid relationship, a severe deep bite of 8 mm, a constricted V-shaped upper arch with moderate crowding, and a severe crowding of about 12 mm in the lower arch. The panoramic X-ray showed an impacted upper right canine. The treatment started with the placement of a transpalatal bar and 0.022 × 0.028 in standard edgewise appliances in the upper arch and a lip bumper bonded on the second lower molars. Initial leveling of the teeth was accomplished with light Australian round wires. Finishing was then performed with rectangular wires. The phase with fixed appliances lasted 2 years and 9 months, and the patient was motivated and cooperative throughout the treatment, although with poor oral hygiene. The patient was treated without extractions.
Results:
The space was gained with the first and second upper molar derotations using the transpalatal bar and the gingival lip bumper in the lower arch. The upper right canine was well positioned, and the maxillary arch form was improved. The severe lower crowding was completely corrected, and a good overbite was achieved.
Conclusion:
A conservative, nonextraction treatment approach for this patient with class I malocclusion with severe mandibular crowding was effective, and the results have remained stable after a long-term follow-up (10 years).
Myositis, Ganglioneuritis, and Myocarditis with Distinct Perifascicular Muscle Atrophy in a 2-Year-Old Male Boxer
Authors: Paul M Rossman, Stephanie A Thomovsky, Ryan M Schafbuch, Ling T Guo, G D Shelton
Journal: Front Vet Sci (2018)
Keywords: endocarditis, ganglioneuritis, megaesophagus, myocarditis, myositis
MeSH terms: Case Reports

A 2-year-old male, intact Boxer was referred for chronic diarrhea, hyporexia, labored breathing, weakness and elevated creatine kinase, and alanine aminotransferase activities. Initial examination and diagnostics revealed a peripheral nervous system neurolocalization, atrial premature complexes, and generalized megaesophagus. Progressive worsening of the dog's condition was noted after 36 h; the dog developed aspiration pneumonia, was febrile and oxygen dependent. The owners elected humane euthanasia. Immediately postmortem biopsies of the left cranial tibial and triceps muscles and the left peroneal nerve were obtained. Postmortem histology revealed concurrent myositis, myocarditis, endocarditis, and ganglioneuritis. Mixed mononuclear cell infiltrations and a distinct perifascicular pattern of muscle fiber atrophy was present in both muscles. This is a novel case of diffuse inflammatory myopathy with a distinct perifascicular pattern of atrophy in addition to endocarditis, myocarditis, and epicarditis.
Intraconal orbital dermoid cyst: a rare location
Authors: Swagatika Samal, Mukund Namdev Sable, Sidharth Pradhan, Pradeep Pradhan
Journal: Autops Case Rep (2021)
Keywords: dermoid cyst, management, orbit
MeSH terms: Case Reports

Intraconal dermoid cysts are very unusual in routine clinical practice. Clinical symptoms depend upon the site and extension of the lesion. Though rare, proptosis, diplopia, and orbital pain are the presenting symptoms encountered in patients with an intraorbital dermoid cyst. Although radiology can be diagnostic, a complete correlation with the final histopathology is always mandatory for its confirmation. Endoscopic excision of the cyst ensures a complete cure for the disease without any intraoperative/postoperative complications.
Bumetanide As a Candidate Treatment for Behavioral Problems in Tuberous Sclerosis Complex
Authors: Chantal Vlaskamp, Simon-Shlomo Poil, Floor Jansen, Klaus Linkenkaer-Hansen, Sarah Durston, Bob Oranje, Hilgo Bruining
Journal: Front Neurol (2017)
Keywords: bumetanide, electroencephalography, event-related potentials, hyperexcitability, tuberous sclerosis complex, tuberous sclerosis complex-associated neuropsychiatric disorders
MeSH terms: Case Reports

Background:
Recent studies indicate excitatory GABA action in and around tubers in patients with tuberous sclerosis complex (TSC). This may contribute to recurrent seizures and behavioral problems that may be treated by agents that enhance GABAergic transmission by influencing chloride regulation.
Case presentation:
Here, we used the chloride transporter antagonist bumetanide to treat a female adolescent TSC patient with refractory seizures, sensory hyper-reactivity, and a variety of repetitive and compulsive behaviors.
Methods:
To evaluate the effect of bumetanide on behavior, auditory sensory processing, and hyperexcitability, we obtained questionnaire data, event-related potentials (ERP), and resting state EEG at baseline, after 3 and 6 months of treatment and after 1 month washout period.
Discussion:
Six months of treatment resulted in a marked improvement in all relevant behavioral domains, as was substantiated by the parent questionnaires. In addition, resting-state electroencephalography and ERP suggested a favorable effect of bumetanide on hyperexcitability and sensory processing. These findings encourage further studies of bumetanide on neuropsychiatric outcome in TSC.
Robotic bilateral inguinal lymphadenectomy in penile cancer, development of a technique without robot repositioning: a case report
Authors: Rene Sotelo, Marino Cabrera, Oswaldo Carmona, Robert de Andrade, Oscar Martin, Golena Fernandez
Journal: Ecancermedicalscience (2013)
Keywords: lymph nodes, lymphadenectomy, penile cancer, robotic surgery
MeSH terms: Case Reports

Introduction:
Inguinal lymphadenectomy is the treatment of choice for patients with penile cancer and inguinal lymph node metastases. We describe the performance of the robotic bilateral inguinal lymphadenectomy technique without repositioning the robot in a patient with penile carcinoma and high risk for nodal metastases and no palpable lymph nodes.
Materials and methods:
A 64-year-old male patient was diagnosed with penile cancer (TNM: T3 N 0 M 0) and underwent a total penectomy with perineal urethrostomy. We performed a robotic bilateral inguinal lymphadenectomy four weeks after the penectomy.
Results:
The entire procedure was performed with the robot-assisted technique. The operative time, median estimated blood loss, and hospital stay was 360 min, 100 ml (50 ml in the right side and 150 ml in the left side), and three days, respectively. Metastatic nodes were present in both inguinal regions, with a yield of 19 lymph nodes on the right and 14 on the left. The patient presented with a left-side lymphocele that was drained at follow-up. No other complications were reported.
Conclusion:
Robotic bilateral inguinal lymphadenectomy secondary to penile cancer is feasible, safe, and provides a good performance. Prospective studies are required to include a larger number of patients and long-term monitoring to assess the results of this procedure in comparison with open and laparoscopic techniques.
Application of Bonelike® as synthetic bone graft in orthopaedic and oral surgery in veterinary clinical cases
Authors: José Miguel Campos, Ana Catarina Sousa, Pedro Olivério Pinto, Jorge Ribeiro, Miguel Lacueva França, Ana Rita Caseiro, Mariana Vieira Branquinho, Sílvia Santos Pedrosa, Carla Mendonça, Ana Brandão, José Domingos Santos, Américo Afonso, Luís Miguel Atayde, Ana Lúcia Luís, Ana Colette Maurício
Journal: Biomater Res (2018)
Keywords: and odontology, biomaterial, bone regeneration, bonelike®, canine, case series, feline, orthopaedics, synthetic bone graft, veterinary

Autologous bone remains the gold standard grafting substrate for bone fusions used for small gaps and critical defects. However, significant morbidity is associated with the harvesting of autologous bone grafts and, for that reason, alternative bone graft substitutes have been developed. In the present case series, a glass-reinforced hydroxyapatite synthetic bone substitute, with osteoinductive and osteoconductive proprieties, was applied. This synthetic bone substitute comprises the incorporation of P2O5-CaO glass-based system within a hydroxyapatite matrix, moulded into spherical pellets with 250-500 μm of diameter. A total of 14 veterinary clinical cases of appendicular bone defects and maxillary / mandibular bone defects are described. In all clinical cases, the synthetic bone substitute was used to fill bone defects, enhancing bone regeneration and complementing the recommended surgical techniques. Results demonstrated that it is an appropriate synthetic bone graft available to be used in veterinary patients. It functioned as a space filler in association with standard orthopaedic and odontological procedures of stabilization, promoting a faster bone fusion without any local or systemic adverse reactions. This procedure improves the animals' quality of life, decreasing pain and post-operative recovery period, as well as increasing bone stability improving positive clinical outcomes.
Multimodal imaging of a patient with poppers maculopathy
Authors: Jale Mentes, Figen Batioglu
Journal: GMS Ophthalmol Cases (2020)
Keywords: fundus autofluorescence, optical coherence tomography, optical coherence tomography angiography, poppers paculopathy
MeSH terms: Case Reports

Objective: To describe the findings and the imaging characteristics of a patient with poppers maculopathy. Methods: The ocular findings were evaluated with fundus autofluorescence imaging, spectral optical coherence tomography and optical coherence tomography angiography. Results: A 36-year-old man presented with a history of blurring vision after using poppers. Best-corrected visual acuity was 0.9 and intraocular pressure was normal in both eyes. Fundus examination revealed hyperreflective appearence at macula with a faint foveolar reflex. Optical coherence tomography revealed focal hyperreflectivity and irregularity of the ellipsoid zone at the fovea. Fundus autofluorescence was normal. Optical Coherence Tomography Angiography revealed no vascular changes. The patient received hyperbaric oxygen therapy for 10 days. After one month VA increased, and OCT improved. Conclusion: Inhalation of poppers may be associated with bilateral vision loss due to the disruption of photoreseptors which is clearly demonstrated with OCT.
Neurofibromatosis of the nipple-areolar area: a case series
Authors: Maria Rita Bongiorno, Spyridoula Doukaki, Mario Aricò
Journal: J Med Case Rep (2010)

Introduction:
Neurofibromatosis type 1 is an autosomal dominant disorder that occurs across all ethnic groups and affects approximately one in 4000 individuals. One of the most noticeable characteristics of the disease is the development of neurofibromas.
Case presentation:
A total of 258 patients (131 women, 127 men) with neurofibromatosis type 1 were evaluated between 1994 and 2004 in our hospital's dermatology department. Nine patients (3.45%, 95% confidence limits 1.22 to 5.68) had neurofibromas of the breast. One of these nine patients presented with an extensive congenital plexiform neurofibroma in the outer quadrants of her right breast, extending to the nipple-areolar complex. Meanwhile, three patients had more than one neurofibroma on the nipple-areolar complexes. Three patients had a family history of neurofibroma. Over the years 1994 to 2004, the cutaneous lesions were not associated with any malignancies. Presenting symptoms were related to conditions such as increasing size of the mass, and associated loss of function and pain.
Conclusions:
This study suggests that the changes are limited to particular subgroups. That neurofibromatosis is more prevalent in women (7 women and 2 men) suggests that being female could be a susceptibility factor for the development of neurofibromas of the nipple-areolar complexes. There are few reports in the literature describing breast carcinomas in association with von Recklinghausen disease. It has been speculated that the presence of multiple neurofibromas of the breast may obscure a breast mass at palpation, leading to a delay in clinical detection. We suggest that patients with neurofibromas of the breast have more rigorous clinical and mammographic screening of the breast during adulthood to determine the presence or absence of malignancies. The finding that both the neurofibromatosis type 1 gene and a breast cancer predisposition gene are located in close proximity on chromosome 17q makes the association of these two conditions intriguing.
Use of a Tracheal Tube as a Nasally Inserted Supraglottic Airway in a Case of Near-Fatal Airway Obstruction Caused by Epiglottitis
Authors: Masayuki Ozaki, Koji Murashima
Journal: Case Rep Anesthesiol (2019)
MeSH terms: Case Reports

Airway management is critical during near-fatal obstruction of the upper airway in epiglottitis; however, this is challenging because of the sitting posture and agitated mental status of the patient. Moreover, there is currently no established protocol for safe airway management in patients with epiglottitis. Here, we describe the use of a conventional tracheal tube as a nasolaryngeal airway to maintain airway patency at the site of airway narrowing in the supine position, which enabled alleviation of imminent airway obstruction in a patient with epiglottitis. For definitive airway establishment, tracheostomy was then safely performed in the supine position.
Pulmonary Rehabilitation Using Modified Threshold Inspiratory Muscle Trainer (IMT) in Patients with Tetraplegia
Authors: Funda Yasar, Canturk Tasci, Sema Savci, Ergun Tozkoparan, Omer Deniz, Arzu Balkan, Hayati Bilgic
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

It is aimed to present the usefulness of inspiratory muscle trainer (IMT) in treatment of a 20-year-old male patient with diaphragmatic paralysis and tetraplegia due to spinal cord injury (SCI), and supporting effect of IMT in recovering from respiratory failure by rendering his diaphragm functions. The treatment was applied through the tracheostomy cannula by a modified IMT device. After applying IMT for three weeks, it was observed that the diaphragm recovered its functions in electromyography (EMG) test. As a result, in this study, we present a case where a patient could live without any respiratory device for the rest of his life with the help of modified IMT.