OpenMed/multicare-articles huggingface dataset:
Potential Seeding From Fine-Needle Aspiration of an Axial Osteosarcoma: A Case Report
Authors: Tasha Faletti, Bernard Seguin, Laura Elizabeth Selmic, Janis Lapsley, Deanna Worley, Maureen Griffin, Giovanni Tremolada
Journal: Front Vet Sci (2022)
Keywords: canine (dog), fine needle aspiration (fna), oncology, osteosarcoma, seeding
MeSH terms: Case Reports

This report describes the first potential case of seeding after fine-needle aspiration (FNA) of a rib osteosarcoma in a dog. An 8-year-old, 28-kg female spayed Golden Retriever was presented to her primary veterinarian with a 3-week history of a 3-cm firm, unpainful, immobile mass arising from the 9th rib. The mass was aspirated and submitted for cytological examination. A subcutaneous nodule developed several days after the FNA was performed in a location immediately overlying but distinct from the primary rib tumor on palpation. Both the primary mass and the newly diagnosed subcutaneous nodule were biopsied and were consistent with an osteosarcoma. Although it cannot be ruled out that the subcutaneous lesion was metastatic, seeding was a reasonable explanation based on where the new mass was located and how quickly it appeared after the FNA was performed. The aim of this case report was to describe the possibility of tumor seeding during FNA for osteosarcoma. It is the authors' opinion that utility of cytological diagnosis of bone tumors outweighs the risk of possible seeding and should continue to be used as a routine diagnostic test for the diagnosis of aggressive bone lesions.
Tuberculosis after gastrectomy, plasmatic concentration of antitubercular drugs
Authors: De Socio Giuseppe Vittorio, D'Avolio Antonio, Sgrelli Alessio, Baietto Lorena, Lisa Malincarne, Di Perri Giovanni, Baldelli Franco
Journal: Mediterr J Hematol Infect Dis (2012)
MeSH terms: Case Reports

We report pharmacokinetic data on two gastrectomized, patients affected by tuberculosis. Drugs plasmatic concentrations were measured after seven days of oral therapy by a validated high performance liquid chromatography-mass spectrometry (HPLC-MS) method and the area under the concentration-time-curve (AUC) over 24 hours (AUC(0-24)) was calculated. A sub-therapeutic level of isoniazid was found in a patient with total gastrectomy with a C(max) of 0,395 mg\L and AUC(0-24) level of 4.75 hr*mg/L. The level of the other antitubercular drugs was adequate. These findings support the need to monitor anti tubercular drug levels to facilitate early detection of therapeutic failure, above all in patients treated with isoniazid and with potential problems on oral drugs absorption.
Cone dystrophy in patient with homozygous RP1L1 mutation
Authors: Sachiko Kikuchi, Shuhei Kameya, Kiyoko Gocho, Said El Shamieh, Keiichiro Akeo, Yuko Sugawara, Kunihiko Yamaki, Christina Zeitz, Isabelle Audo, Hiroshi Takahashi
Journal: Biomed Res Int (2015)
MeSH terms: Eye Proteins / genetics, Genes, Recessive, Mutation, Missense, Retinal Degeneration / genetics, Case Reports, Clinical Trial, Research Support, Non-U.S. Gov't, Amino Acid Substitution, Female, Homozygote, Humans, Male, Middle Aged, Retinal Cone Photoreceptor Cells / pathology, Retinal Degeneration / pathology, Tomography, Optical Coherence, Eye Proteins, RP1L1 protein, human

The purpose of this study was to determine whether an autosomal recessive cone dystrophy was caused by a homozygous RP1L1 mutation. A family including one subject affected with cone dystrophy and four unaffected members without evidence of consanguinity underwent detailed ophthalmic evaluations. The ellipsoid and interdigitation zones on the spectral-domain optical coherence tomography images were disorganized in the proband. The proband had a reduced amplitude of cone and flicker full-field electroretinograms (ERGs). Focal macular ERGs and multifocal ERGs were severely reduced in the proband. A homozygous RP1L1 mutation (c.3628T>C, p.S1210P) was identified in the proband. Family members who were heterozygous for the p.S1210P mutation had normal visual acuity and normal results of clinical evaluations. To investigate other putative pathogenic variant(s), a next-generation sequencing (NGS) approach was applied to the proband. NGS identified missense changes in the heterozygous state of the PCDH15, RPGRIP1, and GPR98 genes. None of these variants cosegregated with the phenotype and were predicted to be benign reinforcing the putative pathogenicity of the RP1L1 homozygous mutation. The AO images showed a severe reduction of the cone density in the proband. Our findings indicate that a homozygous p.S1210P exchange in the RP1L1 gene can cause cone dystrophy.
Combination of intramuscular alfaxalone, butorphanol, and midazolam as a novel immobilization protocol in 3 ring-tailed lemurs ( Lemur catta)
Authors: Kyratsoula Pentsou, Vilhelmiina Huuskonen
Journal: Ir Vet J (2020)
Keywords: alfaxalone, butorphanol, immobilization, lemur catta, midazolam, ring-tailed lemur
MeSH terms: Case Reports

Background:
There is very little data on the optimal anaesthetic management of ring-tailed lemurs, and the available information is mostly based on extrapolation from other species. In addition, a thorough pre-anaesthetic assessment of lemurs might not be possible without prior chemical immobilization, making a safe immobilization protocol essential.
Case presentation:
Three ring-tailed lemurs (Lemur catta) were immobilized using a combination of intramuscular alfaxalone (5 mg/kg), butorphanol (0.2 mg/kg), and midazolam (0.2 mg/kg), at the University College Dublin Veterinary Hospital. One lemur was anaesthetised once, two lemurs twice, amounting to five anaesthetic events. Conversion to general anaesthesia was warranted in all five occasions, and anaesthesia was maintained with either sevoflurane in oxygen or alfaxalone infusion. The immobilization protocol provided an adequate duration of deep sedation for diagnostic procedures and in some occasions allowed the intubation of the trachea. Analgesia was also provided for minor procedures. No major complications were noted with the protocol used.
Conclusions:
The combination of intramuscular alfaxalone, butorphanol and midazolam provided a clinically useful sedation/immobilization in ring-tailed lemurs with only minor complications such as mild hypothermia, hypotension, hypoventilation and bradycardia. This protocol could be considered in ring-tailed lemurs that need to be immobilized for minor procedures, or as a pre-anaesthetic premedication, especially if a full pre-anaesthetic clinical exam is not possible.
Pulmonary Arteriovenous Malformations (PAVMs) and Pregnancy: A Rare Case of Hemothorax and Review of the Literature
Authors: Federica Di Guardo, Viviana Lo Presti, Giuliana Costanzo, Elisa Zambrotta, Luisa Maria Di Gregorio, Antonio Basile, Marco Palumbo
Journal: Case Rep Obstet Gynecol (2019)
MeSH terms: Case Reports

Pulmonary arteriovenous malformations (PAVMs) are anatomical abnormalities consisting in a direct connection between pulmonary arteries and veins. Most of PAVMs are related to Hereditary Hemorrhagic Teleangiectasia, whereas only 10 to 20% are isolated sporadic cases. PAVMs tend to increase in size naturally; however, several factors can influence their growth such as pulmonary arterial hypertension, puberty, and pregnancy. Clinical manifestations are related to the right-to-left shunting and include dyspnoea, hypoxia, and pulmonary hypertension. The presence of PAVMs during pregnancy is associated with an increased risk of complications such as their rupture, haemothorax, and hypovolemic shock. The treatment reserved to PAVMs was the surgical resection of the lung lobe involving the malformation. Due to the worldwide acceptance of endovascular technique, the transcatheter embolization (TCE) is today considered as the mainstay of treatment. Recent studies reported the safeness of the TCE during pregnancy if performed by an experienced radiologist, at second or third trimesters when radiation exposure is believed to have minimal effect on the foetus. However, although the TCE during pregnancy represents an option, the treatment prior to pregnancy has to be considered the auspicial solution. Our study reports the case of a dyspnoeic pregnant woman with unknown pAVM causing hemothorax and simultaneously treated for pAVM reparation, left lower lobe resection, and hysterectomy. Postoperative treatment of embolization was performed to definitively close the pAVM.
Congenital orbital teratoma: a case report and challenges of its management in a resource limited setting
Authors: Olufunmilola Abimbola Ogun, Gabriel Olabiyi Ogun, Biobele Jotham Brown, Adedamola Lameed Mosuro, Adeyinka Olusola Ashaye
Journal: Pan Afr Med J (2012)
Keywords: congenital, immature, orbit, teratoma
MeSH terms: Orbital Neoplasms / congenital, Teratoma / congenital, Case Reports, Female, Health Resources, Humans, Infant, Newborn, Orbital Neoplasms / surgery, Teratoma / surgery

We report a case of congenital immature teratoma of the orbit in a female neonate who presented on the second day of life. She was successfully managed by modified exenteration. The patient was lost to follow-up intermittently over a 24-month period without recurrence of the tumour. However the patient could not be traced again after 24 months of follow up. This happened despite concerted efforts to educate the parents. The possible implications of this and other social factors, in a challenging and resource limited setting, on the prognosis of the disease and cosmetic outcome are considered.
Long-segment common carotid occlusion presenting with limb-shaking transient ischemic attack: Case report
Authors: Qingjun Jiang, Jun Bai, Shaojie Nie, Jie Jin, Lefeng Qu
Journal: Front Surg (2023)
Keywords: carotid endarterectomy, common carotid artery occlusion, corpus striatum, limb-shaking tia, visual impairment
MeSH terms: Case Reports

Background:
Limb-shaking transient ischemic attack (LS-TIA) is a rare manifestation of carotid artery occlusion. Common carotid artery occlusion (CCAO) is a relatively rare condition, and both its natural history and recommendations for treatment are still unclear.
Case description:
A 67-year-old female suffered from transient episodes of unilateral limb shaking. Computer tomographic angiography (CTA) showed long-segment occlusion of the right common carotid artery. Computer tomographic perfusion (CTP) demonstrated hypoperfusion of the corpus striatum, which suggests that hemodynamic failure is a potential mechanism underlying the LS-TIA secondary to common carotid artery occlusion. The occlusion was successfully recanalized by retrograde common carotid endarterectomy, and the episodes of left limb shaking disappeared after surgery.
Conclusions:
The occlusion was successfully recanalized by retrograde common carotid endarterectomy, and the episodes of left limb shaking disappeared after surgery. Hypoperfusion of the corpus striatum might be a potential mechanism underlying the LS-TIA secondary to common carotid occlusion.
An Autopsy Case of a 5-Year-Old Child with Acute Pancreatitis Caused by Eosinophilic Granulomatosis with Polyangiitis-like Necrotizing Vasculitis
Authors: Haruna Yagi, Seishiro Takahashi, Tetsuo Kibe, Kenji Shirai, Isao Kosugi, Hideya Kawasaki, Shiori Meguro, Toshihide Iwashita, Hiroshi Ogawa
Journal: Case Rep Rheumatol (2019)
MeSH terms: Case Reports

In children, acute pancreatitis has been reported in IgA vasculitis, Kawasaki disease, systemic lupus erythematosus-associated vasculitis, and juvenile dermatomyositis-associated vasculitis. However, its frequency in these vasculitides has been shown to be low. In other childhood-onset vasculitides, acute pancreatitis is seldom reported. The patient was a 5-year-old Japanese boy who suddenly presented with gastrointestinal (GI) bleeding. Therapy with antiulcer drugs successfully stopped bleeding, but subsequently, high fever, leukocytosis, and hypoxia appeared. He died 12 days after he presented with GI bleeding. An autopsy unexpectedly revealed that necrotizing vasculitis with marked eosinophilic and histiocytic infiltration of the pancreas led to acute pancreatitis, and gastric ulcer with eosinophilic infiltration was shown to be the origin of GI bleeding. In addition, eosinophilic infiltration was found in the small intestine, lungs, and bone marrow. Necrotizing vasculitis with eosinophilic and histiocytic infiltration of the pancreas, eosinophilic infiltration of the airway wall, and eosinophilic gastroenteritis with gastric ulcer were histologically confirmed, suggesting that the present case may be an early stage of eosinophilic granulomatosis with polyangiitis- (EGPA-) like vasculitis. To our knowledge, this might be the first reported case of EGPA-like vasculitis presenting with acute pancreatitis in a child.
Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia
Authors: Paola Conca, Silvana Pileggi, Sara Simonelli, Emanuela Boer, Giuliano Boscutti, Lucia Magnolo, Patrizia Tarugi, Silvana Penco, Guido Franceschini, Laura Calabresi, Monica Gomaraschi
Journal: J Clin Lipidol (2012)
MeSH terms: Apolipoproteins B / genetics, Hypobetalipoproteinemias / genetics, Lecithin Cholesterol Acyltransferase Deficiency / genetics, Phosphatidylcholine-Sterol O-Acyltransferase / genetics, Case Reports, Research Support, Non-U.S. Gov't, Apolipoprotein A-I / blood, Cholesterol, HDL / blood, Esterification, Heterozygote, Humans, Hypobetalipoproteinemias / therapy, Italy, Kidney Transplantation, Lecithin Cholesterol Acyltransferase Deficiency / therapy, Male, Middle Aged, Mutation, Missense, Pedigree, Sequence Analysis, DNA, Triglycerides / blood, Apolipoprotein A-I, Apolipoproteins B, Cholesterol, HDL, Triglycerides, Phosphatidylcholine-Sterol O-Acyltransferase

Background:
Lecithin:cholesterol acyltransferase (LCAT) is responsible for cholesterol esterification in plasma. Mutations of LCAT gene cause familial LCAT deficiency, a metabolic disorder characterized by hypoalphalipoproteinemia. Apolipoprotein B (apoB) is the main protein component of very-low-density lipoproteins and low-density lipoprotein (LDL). Mutations of APOB gene cause familial hypobetalipoproteinemia, a codominant disorder characterized by low plasma levels of LDL cholesterol and apoB.
Objective:
This was a genetic and biochemical analysis of an Italian kindred with hypobetalipoproteinemia whose proband presented with hypoalphalipoproteinemia and severe chronic kidney disease.
Methods:
Plasma lipids and apolipoproteins, cholesterol esterification, and high-density lipoprotein (HDL) subclass distribution were analyzed. LCAT and APOB genes were sequenced.
Results:
The proband had severe impairment of plasma cholesterol esterification and high preβ-HDL content. He was heterozygote for the novel LCAT P406L variant, as were two other family members. The proband's wife and children presented with familial hypobetalipoproteinemia and were heterozygotes for the novel apoB H1401R variant. Cholesterol esterification rate of apoB H1401R carriers was reduced, likely attributable to the low amount of circulating LDL. After renal transplantation, proband's lipid profile, HDL subclass distribution, and plasma cholesterol esterification were almost at normal levels, suggesting a mild contribution of the LCAT P406L variant to his pretransplantation severe hypoalphalipoproteinemia and impairment of plasma cholesterol esterification.
Conclusion:
LCAT P406L variant had a mild effect on lipid profile, HDL subclass distribution, and plasma cholesterol esterification. ApoB H1401R variant was identified as possible cause of familial hypobetalipoproteinemia and resulted in a reduction of cholesterol esterification rate.
CTNNB1-related neurodevelopmental disorder mimics cerebral palsy: case report
Authors: Jaewoong Lee, Jaeeun Yoo, Seungok Lee, Dae-Hyun Jang
Journal: Front Pediatr (2023)
Keywords: ctnnb1, cerebral palsy, infant, mimic, neurodevelopmental disorder
MeSH terms: Case Reports

While somatic gain-of-function mutations in the CTNNB1 gene cause diverse malignancies, germline loss-of-function mutations cause neurodevelopmental disorders or familial exudative vitreoretinopathy. In particular, CTNNB1-related neurodevelopmental disorders have various phenotypes, and a genotype-phenotype relationship has not been established. We report two patients with CTNNB1-related neurodevelopmental disorder whose clinical features were similar to those of cerebral palsy, hindering diagnosis.
A management dilemma: infectious keratitis associated with soft contact lens use and dubious treatment compliance
Authors: Konstantinos T Tsaousis, Georgios Sakkias, Nikolaos Kozeis, Periklis Tahiaos
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Purpose. To present a case of infectious keratitis caused by the microorganism Serratia marcescens in a contact lens user and further to confer on the most advantageous management of comparable situations. Case. After altering the routine that she used for contact lens disinfection, a 24-year-old patient presented with pain and conjunctival redness in both eyes. Slit-lamp examination revealed two infiltrates in the inferior part of the cornea in the right eye and five smaller infiltrates in the superior half of the left cornea. Appropriate treatment, after hospitalization, improved the symptoms while culture of the contact lens material revealed Serratia marcescens as the responsible infectious factor. Conclusion. Enhancing the availability of information with respect to contact lens users and customized analysis regarding treatment for a particular complication could be beneficial in order to reduce the frequency of admission to the eye clinic due to infectious keratitis. In addition, rapid laboratory testing of the infected materials should be a priority for selection of the optimal treatment regimen.
Case Report: Membranoproliferative Glomerulonephritis, a Rare Clinical Manifestation of Abernethy Malformation Type II
Authors: Xue He, Yueling Zhu, Haidong Fu, Chunyue Feng, Zhixia Liu, Weizhong Gu, Yanyan Jin, Binbin Yang, Huijun Shen
Journal: Front Pediatr (2021)
Keywords: abernethy malformation, arachnoid cyst, congenital extrahepatic portosystemic shunt, focal nodular hyperplasia, membranoproliferative glomerulonephritis
MeSH terms: Case Reports

This report describes an 8-year-old male who presented with clinical manifestations including systemic edema, heavy proteinuria, hypoproteinemia, and persistent hypocomplementemia. Arachnoid cysts and focal nodular hyperplasia were also detected. Imaging examination and renal biopsy were performed, and Abernethy malformation type II with immune complex-mediated membranoproliferative glomerulonephritis was considered the diagnosis. Due to the persistence of embryonic vessels, Abernethy malformation is a rare congenital vascular malformation of the splanchnic venous system, which can be classified as type I (end-to-side shunt) and type II (side-to-side shunt). Abernethy malformation with glomerulonephritis remains extremely rare. In the patient described, glomerulonephritis mediated by immune complex with "full-house" positive immunohistochemistry was confirmed on renal biopsy. In addition, he was treated with glucocorticoids and tacrolimus. Whether surgical treatment is necessary should be determined according to the state of the disease in the later stages. The present case reflects the association between the congenital portosystemic shunt and the renal region and, to the authors' knowledge, may be the first report to describe arachnoid cysts as a symptom of Abernethy malformation.
Prenatally Diagnosed Isolated Coronary Arterial Fistula Leading to Severe Complications at Birth
Authors: A Wacker-Gussmann, T Esser, S M Lobmaier, M O Vogt, E Ostermayer, R Oberhoffer
Journal: Case Rep Cardiol (2018)
MeSH terms: Case Reports

Prenatal diagnosis of a huge coronary artery fistula between the left coronary artery and the right ventricle was made by Doppler echocardiography at 22 weeks of gestation. Progression of the dilated fistula was monitored throughout pregnancy. The size of the fistula increased enormously up to 11 mm. Death occurred at birth. Monitoring of these fetuses is essential as severe complications can occur during pregnancy or at birth.
Optic neuritis as isolated manifestation of leptomeningeal carcinomatosis: a case report and systematic review of ocular manifestations of neoplastic meningitis
Authors: Silvia Lanfranconi, Paola Basilico, Ilaria Trezzi, Linda Borellini, Giulia Franco, Vittorio Civelli, Francesco Pallotti, Nereo Bresolin, Pierluigi Baron
Journal: Neurol Res Int (2013)
MeSH terms: Review

Introduction. Leptomeningeal carcinomatosis occurs in about 5% of cancer patients. Ocular involvement is a common clinical manifestation and often the presenting clinical feature. Materials and Methods. We report the case of a 52-year old lady with optic neuritis as isolated manifestation of neoplastic meningitis and a review of ocular involvement in neoplastic meningitis. Ocular symptoms were the presenting clinical feature in 34 patients (83%) out of 41 included in our review, the unique manifestation of meningeal carcinomatosis in 3 patients (7%). Visual loss was the presenting clinical manifestation in 17 patients (50%) and was the most common ocular symptom (70%). Other ocular signs were diplopia, ptosis, papilledema, anisocoria, exophthalmos, orbital pain, scotomas, hemianopsia, and nystagmus. Associated clinical symptoms were headache, altered consciousness, meningism, limb weakness, ataxia, dizziness, seizures, and other cranial nerves involvement. All patients except five underwent CSF examination which was normal in 1 patient, pleocytosis was found in 11 patients, increased protein levels were observed in 16 patients, and decreased glucose levels were found in 8 patients. Cytology was positive in 29 patients (76%). Conclusion. Meningeal carcinomatosis should be considered in patients with ocular symptoms even in the absence of other suggestive clinical symptoms.
Cerebral Venous Thrombosis in the Setting of Malignancy: Case Report and Review of the Literature
Authors: Constantine N Logothetis, Charles Pizanis
Journal: Case Rep Hematol (2020)
MeSH terms: Case Reports

Cerebral venous thrombosis (CVT) is a rare condition that can be difficult to diagnose due to its vague and nonspecific symptoms. It is even more unusual to identify CVT in association with malignancy. Given the rarity of this disease, treatment and management of CVT in the setting of malignancy is not well defined. This case report and review of the literature addresses the epidemiology, pathophysiology, and medical treatment for malignancy-related CVT.
Derivative 11;22 (emanuel) syndrome: a case report and a review
Authors: Madan Gopal Choudhary, Prashant Babaji, Nitin Sharma, Dilip Dhamankar, Gururaj Naregal, Vijay Sunil Reddy
Journal: Case Rep Pediatr (2013)

Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys. Here, we report a male neonate, with the classical features of Emanuel syndrome.