OpenMed/multicare-articles huggingface dataset:
Hemorrhagic shock as a sequela of splenic rupture in a patient with infectious mononucleosis: focus on the potential role of salicylates
Authors: Konstantinos Bouliaris, Dimos Karangelis, Marios Daskalopoulos, Konstantinos Spanos, Michael Fanariotis, Anargyros Giaglaras
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Despite the fact that the vast majority of splenic ruptures are traumatic, infectious mononucleosis has been incriminated as a major predisposing factor that affects the integrity of the spleen, thus causing atraumatic ruptures and life-threatening hemorrhages. Herein we present a case of a 23-year-old Caucasian male who underwent an emergency laparotomy for acute abdomen and hemorrhagic shock, caused by spontaneous splenic rupture secondary to infectious mononucleosis. The potential role of salicylates in the development of a hemorrhagic complication in a patient with infectious mononucleosis is discussed.
A novel missense mutation in the FERM domain containing 7 (FRMD7) gene causing X-linked idiopathic congenital nystagmus in a Chinese family
Authors: Zhirong Liu, Shanying Mao, Jiali Pu, Yao Ding, Baorong Zhang, Meiping Ding
Journal: Mol Vis (2013)
MeSH terms: Asian People / genetics, Cytoskeletal Proteins / genetics, Genetic Diseases, X-Linked / genetics, Membrane Proteins / genetics, Mutation, Missense / genetics, Nystagmus, Congenital / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Adult, Aged, Base Sequence, Child, China, DNA Mutational Analysis, Family, Female, HEK293 Cells, Humans, Infant, Male, Molecular Sequence Data, Pedigree, Protein Structure, Tertiary, Signal Transduction, Young Adult, rac1 GTP-Binding Protein / metabolism, Cytoskeletal Proteins, FRMD7 protein, human, Membrane Proteins, rac1 GTP-Binding Protein

Purpose:
Idiopathic congenital nystagmus (ICN) is a genetically heterogeneous disease. Thus far, the disease gene has been identified as the FERM domain containing 7 (FRMD7) gene. The purpose of this study was to elucidate the clinical and genetic characteristics of a four- generation Chinese family with ICN.
Methods:
The clinical data and the genomic DNA of a Chinese ICN family were collected following the provision of informed consent. All coding exons of the FRMD7 gene were amplified by PCR and then sequenced. Afﬁnity GST-p21 activated kinase 2 (PAK2) precipitation was used to investigate whether this novel FRMD7 mutant influenced Rac1 signaling activation in the human embryonic kidney 293 T cells (HEK 293T) cells transiently cotransfected with wild-type or mutant FRMD7 and Rac1.
Results:
A novel missense mutation (c.635T>C) was identified in all affected members. Obligate female carriers were heterozygous in these mutations and the affected males were homozygous, consistent with X-linked inheritance. This mutation is a substitution of proline for leucine. Function analysis showed that this novel mutant influences Rac1 signaling in human HEK 293T cells.
Conclusions:
This study widens the mutation spectrum of the FRMD7 gene. This mutant was shown to activate GTPase Rac1 signaling in vitro; however, the quantity of activated Rac1 was obviously decreased compared with the wild type (p<0.05). Taken together, our data strongly support the hypothesis that the identified FRMD7 mutant influences GTPase Rac1 signaling, which regulates neurite development. This mutation may be related to the pathogenesis of X-linked ICN.
Reinstrumentation for rapid curve progression after implant removal following posterior instrumented fusion in adolescent idiopathic scoliosis: a case report
Authors: Toshiaki Kotani, Tsutomu Akazawa, Jose Mt Lumawig, Tsuyoshi Sakuma, Shohei Minami
Journal: Scoliosis (2013)
Keywords: adolescent idiopathic scoliosis, implant removal, posterior spinal fusion
MeSH terms: Case Reports

Background context:
Spinal implants are occasionally removed due to infection or soft tissue irritation secondary to prominence. Several studies have reported loss of scoliotic curve correction after implant removal. However, further review of the literature reveals no similar cases of rapid curve progression following implant removal in patients with adolescent idiopathic scoliosis (AIS) necessitating repeat posterior instrumented fusion.
Purpose:
To describe a 15-year-old female AIS patient treated by posterior instrumented fusion, who developed unusual rapid coronal and sagittal curve progression after implant removal.
Study design:
Case report.
Methods:
Retrospective case report.
Results:
A 15-year-old female with Lenke type 1A AIS underwent a successful posterior spinal fusion with instrumentation. She initially had no complications after surgery, but three years after instrumentation, her implants were removed due to pain secondary to implant prominence. Fifteen months after removal, the main thoracic curve increased, compared with radiographs taken before removal, from 29° to 57°. This development required the patient to undergo additional surgery, which involved multiple osteotomies and posterior reinstrumentation.
Conclusions:
We must acknowledge that a remarkable amount of progression can occur rapidly following implant removal in scoliotic patients. Taking this into consideration,we need to carefully explain to patients that removal of their implants entails a risk of progressive deformity and that they need to follow-up with their physician after implant removal.
Splenic metastases - hematogenous disease or invasive peritoneal implants? Case reports of two patients
Authors: Paul H Sugarbaker, Ebony R Hoskins
Journal: Int J Surg Case Rep (2020)
Keywords: appendiceal mucinous neoplasm, case report, cytoreductive surgery, debulking surgery, gastrointestinal cancer, hipec, hematogenous metastases, intraperitoneal chemotherapy, ovarian cancer, peritoneal metastases, pseudomyxoma peritonei
MeSH terms: Case Reports

Background:
Metastases from gastrointestinal and gynecologic malignancy may occur through lymphatic channels, through venules of the cancer or into the peritoneal space. The metastatic process involves lymphatic, hematogenous or transcoelomic dissemination.
Methods:
Two patients with splenic metastases are presented. Their clinical course is presented in an attempt to identify the route of cancer dissemination to the spleen. Lymphatic, hematogenous, or transcoelomic patterns of cancer dissemination are possible. Transcoelomic cancer dissemination into the peritoneal space results in peritoneal metastases.
Results:
In a woman with ovarian cancer peritoneal metastases, a large lesion within the parenchyma of the spleen was described. This disease was present at multiple other sites as peritoneal metastases but no hematogenous or lymphatic metastases. A second patient with mucinous appendiceal neoplasm with peritoneal metastases was studied. Hematogenous metastases from this malignancy is extremely rare and lymphatic metastases were not present at the time of right colon resection. After studying these two patients, our hypothesis is that splenic metastases result from transcoelomic dissemination to the splenic hilum or splenic notches with progression of disease into the parenchyma of the spleen.
Conclusions:
When oncologists are considering aggressive local-regional treatments for peritoneal metastases important patient management decisions are influenced by the presence versus absence of hematogenous metastases. We suggest that the presence of splenic metastases does not indicate systemic (hematogenous) or lymphatic metastatic process but an extension of peritoneal metastases at the hilum of the spleen or within splenic notches deep into the parenchyma of the spleen.
Ventricular Arrhythmia Precipitated by Severe Hypocalcaemia Secondary to Primary Hypoparathyroidism
Authors: S Ashwin Reddy
Journal: Case Rep Cardiol (2019)
MeSH terms: Case Reports

Hypocalcaemia causes neuromuscular and myocardial symptoms, including QT interval prolongation, and cardiac arrhythmias. Prompt detection and calcium replacement may reverse the pathology, following which the underlying cause should be diagnosed and treated to prevent recurrence. I present the case of a young man presenting with collapse who was found to have sinus rhythm with significant QT interval prolongation on admission electrocardiogram (ECG) associated with profound hypocalcaemia secondary to primary hypoparathyroidism.
Otosyphilis: A rare case of reversible hearing loss in a young man with secondary syphilis
Authors: Enas W Sarsak, Walid E Omer, Ahmad A Al Bishawi, Muna Al Maslamani, Alaaeldin Abdulmajed Basher Abdulmajed
Journal: IDCases (2022)
Keywords: hearing loss, neurosyphilis, otosyphilis, sexually transmitted diseases, syphilis
MeSH terms: Case Reports

Background:
Over the last decade, it has been noticed a significant increase in the number of cases of syphilis with a concurrent increased number of patients presenting with syphilis-related complications. Otosyphilis is a well-known complication of syphilis that most of the time, can lead to irreversible hearing loss, especially with delayed diagnosis and treatment. A high index of suspicion is needed for an accurate diagnosis of otosyphilis. Complete audiologic recovery is rare but still possible with the appropriate treatment.
Case report:
Herein, we describe a case of reversible hearing loss secondary to otosyphilis in a young healthy man who was initially diagnosed and treated as a case of secondary syphilis, and presented later to the clinic with unilateral tinnitus and hearing loss. Audiology findings were consistent with asymmetric sensorineural hearing loss. Fortunately, complete recovery of hearing was achieved after treatment with a 14-day course of intravenous penicillin.
Conclusion:
Otosyphilis is one of the rare presentations of syphilis; thus, the diagnosis is often missed or delayed. Prompt diagnosis and treatment can help prevent the occurrence of permanent hearing loss.
Unusual presentation of papillary microcarcinoma of thyroid as thigh mass
Authors: Koyye Ravindranath Tagore, S Ramineni Asok Kumar
Journal: Case Rep Pathol (2011)
MeSH terms: Case Reports

An elderly otherwise healthy male presented with a mass in thigh. Fine needle aspiration cytology (FNAC) revealed features of papillary carcinoma of thyroid, suggesting secondary deposits. Later the patient was clinically evaluated. There was no obvious thyromegaly both clinically and sonologically. The patient was followed up. One month after initial presentation, he came with an enlarged cervical lymph node and a tiny nodule in thyroid. FNAC from both the thyroid and cervical lymph node showed identical features of papillary carcinoma.
Neonatal Gartner Duct Cyst: Two Case Reports and Literature Review
Authors: Charu Tiwari, Hemanshi Shah, Jayesh Desale, Mukta Waghmare
Journal: Dev Period Med (2017)
Keywords: gartner duct cyst, vaginal mass, neonate
MeSH terms: Cysts / diagnostic imaging, Wolffian Ducts / diagnostic imaging, Case Reports, Review, Female, Humans, Infant, Newborn, Ultrasonography

Vaginal cysts are rare, particularly in the newborn. They usually present as one of these three entities in the newborn: paraurethral cysts (Skene duct cysts), Gartner duct cysts (mesonephric ductal remnants) or a covered ectopic ureter. Abdominal ultrasound should always be included in the clinical evaluation in search of renal anomalies. We report two cases of Gartner cysts in neonates.
Spontaneous regression of multiple flow-related aneurysms following treatment of an associated brain arteriovenous malformation: A case report
Authors: Lukas Andereggen, Philipp Gruber, Javier Anon, Angelo Tortora, Hans-Jakob Steiger, Gerrit A Schubert, Serge Marbacher, Luca Remonda
Journal: Front Surg (2022)
Keywords: angiography, arteriovenous malformation, intracranial aneurysm, subarachnoid hemorrhage, surgery
MeSH terms: Case Reports

Introduction:
There is no consensus in the treatment strategy of intracranial aneurysms (IAs) associated with brain arteriovenous malformation (BAVM). In particular, it is unknown if a more aggressive approach should be considered in patients harboring a BAVM, in whom multiple aneurysms or a history of aneurysmal subarachnoid hemorrhage (aSAH) is present.
Case presentation:
We report on an elderly woman harboring multiple aneurysms with a history of SAH due to rupture of an unrelated IA. On evaluation, she was also found to harbor a contralateral, left parietal convexity BAVM. Following resection of the latter, spontaneous regression of two large flow-related aneurysms was encountered.
Discussion:
We discuss the therapeutic decision-making, risk stratification, and functional outcome in this patient with regard to the pertinent literature on the risk of hemorrhage in IAs associated with BAVM.
Laparoscopic Splenectomy for Splenic Metastasis from Primary Lung Carcinoma
Authors: Carlos A Lopera, Jean Pierre Vergnaud, Gustavo Matute-Turizo, Salin Pereira-Warr
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Introduction:
Isolated splenic metastases are a rare finding. Though several primary tumors can produce splenic metastases, including lung carcinoma, there are very few documented cases of isolated splenic metastases from lung carcinoma. This report presents such a case in which the splenic metastasis was removed with laparoscopic splenectomy.
Presentation of case:
A 69-year-old woman with a history of lung carcinoma presented with several months of abdominal pain. Abdominal CT identified a splenic mass which was resected laparoscopically. Pathology confirmed a splenic metastasis from a primary large cell lung carcinoma.
Discussion:
Due to its anatomical and physiological characteristics, the spleen is a well-protected organ with respect to metastatic spread. The rarity of such metastases means that there is no evidence-based form of management. This case presents this rare metastatic occurrence and the successful management of the disease via laparoscopic splenectomy.
Conclusions:
This case confirms that splenic metastases can result from a primary lung carcinoma. Furthermore, the case supports successful management of this pathology by laparoscopic splenectomy.
Interest of Fluvoxamine as an Add-On to Clozapine in Children With Severe Psychiatric Disorder According to CYP Polymorphisms: Experience From a Case Series
Authors: Camille Berel, Ulysse Mossé, Julien Wils, Lauriane Cousin, Laurent Imbert, Priscille Gerardin, Boris Chaumette, Fabien Lamoureux, Vladimir Ferrafiat
Journal: Front Psychiatry (2021)
Keywords: child and adolescent psychiatry, clozapine, cytochrome polymorphism, fluvoxamine, resistant psychiatric disorder

Despite its drastic efficacy in resistant psychiatric disorders, clozapine remains rarely used in youth due to its side effects. Clozapine plasma level is determined through its metabolism involving several isoforms of cytochromes 450 (CYP450) family. Isoform CYP1A2 appears as a limiting enzyme involved in the metabolism of clozapine, while isoforms 2C19, 2D6, 3A4, and 3A5 also contribute in a minor way. Clozapine efficacy is limited by a significant inter-patient variability in exposure according to CYP's polymorphisms. Clozapine plasma levels may be increased with CYP inhibitors such as fluvoxamine. This drug is a potent enzymatic inhibitor of CYP1A2 and, to a lesser extent, of CYP3A4 and CYP2D6. Hence, in case of CYP's polymorphisms in youth, the use of fluvoxamine as add-on to clozapine could help in reaching clinical and biological efficacy and allowing lower clozapine dosage and a better tolerance profile as it has already been described in adults. We report four pediatric cases with severe psychiatric disorders underlying our experience with CYP polymorphism explorations and the use of fluvoxamine as add-on to clozapine. Our four patients clinically improved after the introduction of fluvoxamine, enhancing clozapine metabolism and therefore the clozapine plasma level within therapeutic range. Despite the interesting results of fluvoxamine, we report a severe issue of tolerance for one patient, emphasizing the need for caution regarding possible drug interactions when fluvoxamine is considered. Hence, we propose a detailed step-by-step multidisciplinary protocol.
Liposarcoma of the spermatic cord mimicking a left inguinal hernia: a case report and literature review
Authors: Fubiao Li, Runhui Tian, Changjiu Yin, Xiaofan Dai, Hongliang Wang, Ning Xu, Kaimin Guo
Journal: World J Surg Oncol (2013)
MeSH terms: Genital Neoplasms, Male / diagnosis, Hernia, Inguinal / diagnosis, Liposarcoma / diagnosis, Spermatic Cord / pathology, Case Reports, Review, Diagnosis, Differential, Hernia, Inguinal / surgery, Humans, Liposarcoma / surgery, Male, Middle Aged, Prognosis, Spermatic Cord / surgery

Liposarcoma of the spermatic cord (LSC) is a rare condition characterized by a painless inguinal or scrotal mass. To our knowledge, only about 200 cases have been previously reported in the literature. These tumors are often mistaken for common scrotal swellings, such as hydroceles and hernias. We present a LSC case in which a definitive diagnosis was obtained upon histological examination. We also provide a literature review of other cases that have been reported.
The Relief of Unilateral Painful Thoracic Radiculopathy without Headache from Remote Spontaneous Spinal Cerebrospinal Fluid Leak
Authors: Byung-Chul Son, Sang-Woo Ha, Si-Hoon Lee, Jin-Gyu Choi
Journal: Pain Res Manag (2016)
MeSH terms: Blood Patch, Epidural / methods, Cerebrospinal Fluid Leak / therapy, Functional Laterality / physiology, Neck Pain / therapy, Radiculopathy / therapy, Case Reports, Aged, Cerebrospinal Fluid Leak / diagnostic imaging, Cerebrospinal Fluid Leak / etiology, Female, Humans, Magnetic Resonance Imaging, Neck Pain / complications, Radiculopathy / complications, Tomography, X-Ray Computed

Spontaneous intracranial hypotension (SIH) caused by spontaneous spinal cerebrospinal fluid (CSF) leaks produces orthostatic headaches. Although upper arm pain or paresthesia is reportedly associated with SIH from spontaneous spinal CSF leak in the presence of orthostatic headache, low thoracic radicular pain due to spontaneous spinal CSF leak unassociated with postural headache is extremely rare. We report a 67-year-old female who presented with chronic, positional radicular right T11 pain. Computed tomography myelography showed a spontaneous lumbar spinal CSF leak at L2-3 and repeated lumbar epidural blood patches significantly alleviated chronic, positional, and lower thoracic radiculopathic pain. The authors speculate that a chronic spontaneous spinal CSF leak not severe enough to cause typical orthostatic headache or epidural CSF collection may cause local symptoms such as irritation of a remote nerve root. There might be considerable variabilities in the clinical features of SIH which can present a diagnostic challenge.
Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?
Authors: Virginie Levrat, Isabelle Forest, Alain Fouilhoux, Cécile Acquaviva, Christine Vianey-Saban, Nathalie Guffon
Journal: Orphanet J Rare Dis (2008)
MeSH terms: Amino Acid Metabolism, Inborn Errors / complications, Amino Acid Metabolism, Inborn Errors / drug therapy, Glutamates / pharmacology, Hyperammonemia / drug therapy, Case Reports, Amino Acid Metabolism, Inborn Errors / urine, Female, Humans, Infant, Newborn, Methylmalonic Acid / urine, Propionates / urine, Glutamates, Propionates, carglumic acid, Methylmalonic Acid

Background:
Hyperammonemia in patients with methylmalonic aciduria (MMA) and propionic aciduria (PA) is caused by accumulation of propionyl-CoA which decreases the synthesis of N-acetyl-glutamate, the natural activator of carbamyl phosphate synthetase 1. A treatment approach with carglumic acid, the structural analogue of N-acetyl-glutamate, has been proposed to decrease high ammonia levels encountered in MMA and PA crises.
Case presentation:
We described two patients (one with MMA and one with PA) with hyperammonemia at diagnosis. Carglumic acid, when associated with standard treatment of organic acidurias, may be helpful in normalizing the ammonia level.
Conclusion:
Even though the usual treatment which decreases toxic metabolites remains the standard, carglumic acid could be helpful in lowering plasma ammonia levels over 400 micromol/L more rapidly.
Endovascular Repair with a Stent Graft in a Patient with Aortoduodenal Fistula after Radiation Therapy
Authors: Kazuhiko Morikawa, Hirokazu Ashida, Yosuke Nozawa, Kenji Motohashi, Takao Igarashi, Hiroya Ojiri, Yuji Kanaoka, Takao Ohki
Journal: Case Rep Radiol (2017)
MeSH terms: Case Reports

Primary aortoduodenal fistula (ADF) is a direct communication between the abdominal aorta and the gastrointestinal tract without any previous vascular intervention and represents a rare but critical cause of repeated and massive gastrointestinal bleeding. Primary ADF often occurs as a result of atherosclerotic aneurysm and infection, but ADF involving a normal-size aorta is rare; furthermore, ADF related to radiation therapy is extremely rare. We present the case of a 56-year-old man with a history of bowel obstruction due to radiation enteritis who was admitted with severe hematemesis and hemorrhagic shock. Gastroduodenal endoscopy and contrast-enhanced computed tomography findings were unremarkable. Aortoduodenal fistula was suspected based on the diffuse calcification of the abdominal aorta confined to the radiation field and the presence of an aortoduodenal communication on angiography. Endovascular repair with a stent graft seemed to be a safer option than open surgery and was suited to the rapid control of bleeding from ADF because of the patients' unstable hemodynamic state and the presence of intestinal adhesions. The fistula was successfully sealed by endovascular stent graft placement. Hematemesis did not recur postoperatively and anemia gradually improved. The patient died from pneumonia 33 days later.
Multislice CT angiography of the plantar arch
Authors: L Field, Z Sun
Journal: Biomed Imaging Interv J (2010)
Keywords: 3d visualization, computed tomography angiography, hallux valgus, peripheral arteries, plantar arch
MeSH terms: Case Reports

The aim of this case report is to present a multislice computed tomography angiography (CTA) procedure for viewing the plantar arch. A CTA was requested to determine the vascular sufficiency of the plantar arch of a 64-year-old patient with necrotic and gangrenous toes. The patient had recently undergone a proximal wedge osteotomy procedure for correction of a hallux valgus deformity. A 16-detector row CT scanner with 1.25 mm slice thickness and 0.625 mm reconstruction interval was used to reconstruct multiplanar reformats, maximum intensity projections and three-dimensional volume rendered images of the foot in question in both arterial and venous phases to determine if pathology of the plantar arch was present. The 3D reconstructed images of CTA demonstrated a loss of continuity of the plantar arch between the first and third metatarsals. This case report shows the diagnostic value of multislice CTA, especially 3D visualisation in the assessment of peripheral vascular branches.