OpenMed/multicare-articles huggingface dataset:
A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome
Authors: Gyu-Nam Kim, Chang-Seok Ki, Seong-Wook Seo, Ji-Myong Yoo, Yong-Seop Han, In-Young Chung, Jong-Moon Park, Seong-Jae Kim
Journal: Mol Vis (2013)
MeSH terms: Asian People / genetics, Eye Abnormalities / genetics, Forkhead Transcription Factors / genetics, Mutation / genetics, Case Reports, Adult, Anterior Eye Segment / abnormalities, Base Sequence, Child, DNA Mutational Analysis, Eye Abnormalities / pathology, Eye Diseases, Hereditary, Family, Female, Homeodomain Proteins / genetics, Humans, Infant, Newborn, Male, Molecular Sequence Data, Pedigree, Republic of Korea, Transcription Factors / genetics, FOXC1 protein, human, Forkhead Transcription Factors, Homeodomain Proteins, Transcription Factors, homeobox protein PITX2, Axenfeld-Rieger syndrome

Purpose:
To report a case series of patients with novel forkhead box CI (FOXC1) mutations in a Korean family with Axenfeld-Rieger syndrome (ARS).
Methods:
Four members of the same family underwent complete ophthalmologic and systemic examinations and genetic analysis. Genomic DNA was isolated from peripheral blood leukocytes, and all coding exons with flanking intronic regions of the FOXC1 and pituitary homeobox 2 genes were amplified using PCR, and sequenced.
Results:
The patients were 40, 12, 11, and 10 years old (father, son, and two sisters, respectively). All four had uncontrolled intraocular pressure, glaucomatous visual field defect, retinal nerve fiber layer defect, iridocorneal adhesion on gonioscopy, hypoplasia and marked atrophy of the iris, flattening of the midface, and broad flat noses. A diagnosis of ARS was made based on characteristic ocular and systemic traits. A novel FOXC mutation, c.317delA, was identified in all affected members of the family with ARS.
Conclusions:
We found a novel c.317delA mutation in FOXC1 in a Korean family with ARS. We suggest that this FOXC1 mutation causes typical ARS, and that our results may be useful for better understanding of the spectrum of FOXC1 mutations and the role of FOXC1 in the development and progression of ARS.
Congenital Unilateral Hypertrophy of the Plantar Musculature with Multiple Toe Deformities: A Case Report and Literature Review
Authors: Matthias Holzbauer, Stefan Rick, Marco Götze, Sébastien Hagmann
Journal: Case Rep Orthop (2020)
MeSH terms: Case Reports

Congenital unilateral hypertrophy of the plantar musculature is a rare condition, and to our knowledge, reports of only 14 cases have been previously published. As only one describes a concomitant orthopedic toe deformity, we report our case of abductor hallucis, flexor digitorum brevis, and abductor digiti minimi muscle hypertrophy in combination with hallux valgus and claw toe deformity as well as a laterally abducted fifth toe. Thus, this report presents the rare case of congenital hypertrophy of the plantar musculature associated with complex toe deformities. Moreover, the present article contains a detailed description of our surgical technique as well as a review of the current literature.
Flapless Cone Beam Computed Tomography-Guided Implant Surgery with Contextual Transcrestal Sinus Lift Augmentation Using New Bone Compactor Tools
Authors: Ferdinando Attanasio, Sergio Bortolini, Daniele Carbone, Andrea Pacifici
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

In the present paper, the authors present a case report of premolar edentulism in the upper jaw treated through a guided flapless oral implant surgery with contextual crestal sinus lift, performed with a system of manual screw-tapered bone expanders (B&B Dental, San Benedetto, BO, Italy). The surgery was planned by means of dedicated software, through which the data obtained from the CBCT and from intraoral scanner impression were matched, with consequent production of a surgical template. The proposed surgical procedure is minimally invasive, very simple, and fast and ensures good comfort for the patient by avoiding the elevation of mucoperiosteal flaps and uncomfortable malleting maneuvers. In addition, the presented method shows a good degree of correspondence between the ideal position of the implant in the planning phase and the actual one detectable after the surgery.
Mitoxantrone therapy for acute posterior multifocal placoid pigment epitheliopathy with cerebral vasculitis
Authors: Hélène Massé, Jean-Laurent Guyomard, Dominique Baudet, Jean-François Pinel, Gilles Edan, Jean-François Charlin
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

Purpose. To report favorable outcome of a case of acute posterior multifocal placoid pigment epitheliopathy (APMPPE) associated with cerebral vasculitis after treatment with immunosuppressive therapy by mitoxantrone. Design. Single case report. Method. A 22-year-old man presented with acute isolated bilateral loss of vision revealing APMPPE. Corticosteroid therapy was initiated and visual acuity gradually improved. Seventeen days later, visual function deteriorated again, associated with flu-like syndrome and severe headaches. A relapse of APMPPE was diagnosed, complicated with lymphocytic meningitis and cerebral ischemia. Intravenous therapy with mitoxantrone was performed in combination with methylprednisolone. Results. Headaches disappeared in a few days whereas visual acuity gradually improved and stabilized at 20/40 in the right eye and 20/32 in the left eye. No adverse event was observed. Clinical improvement was confirmed by magnetic resonance imaging. Conclusion. Cerebral vasculitis is the most severe complication of the extraocular manifestations of APMPEE. This diagnosis should be evoked when severe headaches or behavior disorder are associated with APMPEE.
Treatment of Hepatic Cystic Echinococcosis Patients with Clear Cell Renal Carcinoma: A Case Report
Authors: Bo Ran, Lujin Cheng, Lin Kang, Tuerganaili Aji, Tieming Jiang, Ruiqing Zhang, Qiang Guo, Hao Wen, Yingmei Shao, Hui Xiao
Journal: Open Life Sci (2019)
Keywords: clear cell renal carcinoma, echinococcosis, liver

Human cystic echinococcosis is a zoonosis caused by the larval cestode Echinococcus granulosus. Clear cell renal carcinoma is the most common pathological type of renal cell carcinoma. Echinococcosis complicated with carcinoma is rarely reported. Here, we reported a female patient with echinococcal cyst of the liver accompanied with clear cell renal carcinoma. This 27-year-old woman was admitted for abdominal pain. The serological testing of hydatid cyst was positive and levels of tumor markers were within the normal range. The computed tomography and histological findings confirmed hepatic echinococcal cyst complicated with renal carcinoma of kidney. Preoperative liver function was grade A. The patient underwent pericystectomy of liver hydatid cyst and partial nephrectomy. No recurrence was found at 1 year of follow-up. Liver hydatid complicated with renal cell carcinoma is rare, which should be differentiated from liver metastasis of renal cancer. Surgical resection is the optimal treatment. This case may provide insight for the diagnosis and research on the co-occurrence of tumor and hydatid cyst.
Platinum-Based Neoadjuvant Chemotherapy Before Radical Prostatectomy for Locally Advanced Prostate Cancer With Homologous Recombination Deficiency: A Case Report
Authors: Junlong Zhuang, Shun Zhang, Xuefeng Qiu, Yao Fu, Shuyue Ai, Tingting Zhao, Yining Yang, Hongqian Guo
Journal: Front Oncol (2022)
Keywords: homologous recombination defect, neoadjuvant chemotherapy, next-generation sequencing, platinum, prostate cancer
MeSH terms: Case Reports

More emerging evidence showed that homologous recombination (HR) defect (HRD) may predict sensitivity to platinum agents in metastatic prostate cancer (PCa). Platinum-based neoadjuvant chemotherapy for PCa with HRD has not been reported. Here, we reported a man diagnosed as locally advanced PCa with high Gleason Score (5 + 5) and low PSA level (5.2 ng/ml). Next-generation sequencing (NGS) demonstrated HRD. He received six cycles of platinum-based neoadjuvant chemotherapy before radical prostatectomy (RP). Fifteen months after RP, his PSA level was still undetectable, and no imaging progression was found, indicating a potential role for platinum-based neoadjuvant chemotherapy in locally advanced PCa with HRD.
Fronto-Temporal Circuits in Musical Hallucinations: A PET-MR Case Study
Authors: Carlo Cavaliere, Mariachiara Longarzo, Mario Orsini, Marco Aiello, Dario Grossi
Journal: Front Hum Neurosci (2018)
Keywords: dti, pet/mr, fmri, glucose metabolism, musical hallucinations, neuropsychological assessment

The aim of the study is to investigate morphofunctional circuits underlying musical hallucinations (MH) in a 72-years old female that underwent a simultaneous 18fluoredeoxyglucose positron emission tomography (PET) and advanced magnetic resonance (MR) exam. This represents a particular case of MH occurred in an healthy subject, not displaying neurological or psychopathological disorders, and studied simultaneously with a multimodal approach. For the resting-state fMRI analysis a seed to seed approach was chosen. For the task-based fMRI, 4 different auditory stimuli were presented. Imaging findings were compared with data obtained by ten healthy controls matched for age and sex. Neuropsychological evaluation and questionnaires investigating depression and anxiety were also administered. PET findings showed hypermetabolism of: superior temporal gyri, anterior cingulate, left orbital frontal, and medial temporal cortices. Structural MRI did not show macroscopical lesions except for gliotic spots along the uncinate fascicle pathways with an increased cortical thickness for the right orbitofrontal cortex (p = 0.003). DTI showed increased fractional anisotropy values in the left uncinate fascicle, when compared to controls (p = 0.04). Resting-state fMRI showed increased functional connectivity between the left inferior frontal gyrus and the left temporal fusiform cortex (p = 0.01). Task-based fMRI confirmed PET findings showing an increased activation of the superior temporal gyrus in all the auditory tasks except for the monotone stimulus, with a significant activation of the left orbital frontal cortex only during the song in foreign language, object of MH. Results on cognitive test did not show cognitive impairment, excepting for the performance on Frontal Assessment Battery where the patient fails in the cognitive domains of conceptualization, sensitive to interference, and inhibitory control. The subject did not show depressive or anxiety symptoms. Summarizing, multimodal imaging analyses in the MH case showed a microstructural alteration of the left uncinate fascicle paralleled by an increased metabolism and functional connectivity of cortical regions that receive left uncinate projections (orbital frontal cortex, and medial temporal cortex). This alteration of fronto-hyppocampal circuits could be responsible of retrieval of known songs even in the absence of real stimuli.
Contralateral Acupuncture for the Treatment of Phantom Limb Pain and Phantom Limb Sensation in Oncologic Lower Limb Amputee: A Case Report
Authors: Qin Guo, Zhong Di, Hong-Fang Tian, Quan-Ai Zhang
Journal: Front Neurosci (2021)
Keywords: acupuncture, contralateral acupuncture, phantom limb, phantom limb pain (plp), phantom limb sensation (pls)
MeSH terms: Case Reports

Phantom limb pain (PLP) and phantom limb sensation (PLS) are common and distressing sequelae of amputation. Current pain management following amputation is challenging and unsatisfying. In this case study, a 74-year-old woman underwent above-knee amputation because of the rhabdomyosarcoma in the right leg. Despite several analgesics, pain was poorly controlled. The phantom limb pain and sensation were immediately reduced by the contralateral acupuncture, and abolished after the third session with no side-effects, no relapse during the next 9 months. Contralateral acupuncture showed positive effect on PLP and PLS in this case, but more robust evidence would be needed to support the efficacy of this treatment technique for indication.
Reconstruction of an Extensive Periocular and Bilamellar Defect of the Lower and Upper Eyelid Using Local, Regional and Free Chondral Graft Techniques: A Case Report
Authors: Glenn De Weerdt, Pieter Luyten, Fabrice Dubrulle, Martain Loonen
Journal: World J Plast Surg (2021)
Keywords: chondral graft, eyelid, paramedian forehead flap, reconstruction, tenzel flap
MeSH terms: Case Reports

A 65-year-old female patient with a histologically confirmed basal cell carcinoma located at the right lateral lower eyelid was referred for surgical tumour excision and reconstruction of the periorbital area. The periocular zone was reconstructed in a two-staged procedure with bilamellar repair of both eyelids. An autologous chondral graft, mucosal advancement techniques and a periosteum-temporalis fascia hinged turnover flap were used for reconstruction of the posterior lamellae. A modified Tenzel flap and a paramedian forehead flap were used for reconstruction of the anterior lamellae. An acceptable functional and aesthetic outcome of the reconstruction was achieved.
Interstitial lung disease associated with drug therapy
Authors: P Camus, S Kudoh, M Ebina
Journal: Br J Cancer (2004)
MeSH terms: Antineoplastic Combined Chemotherapy Protocols / adverse effects, Antineoplastic Combined Chemotherapy Protocols / therapeutic use, Carcinoma, Non-Small-Cell Lung / drug therapy, Lung Diseases, Interstitial / chemically induced, Lung Neoplasms / drug therapy, Case Reports, Review, Aged, Aged, 80 and over, Antimetabolites, Antineoplastic / adverse effects, Antimetabolites, Antineoplastic / therapeutic use, Gefitinib, Humans, Japan, Middle Aged, Quinazolines / adverse effects, Quinazolines / therapeutic use, Respiratory Distress Syndrome, Risk Factors, Antimetabolites, Antineoplastic, Quinazolines, Gefitinib

Drug-associated interstitial lung disease (ILD) is not uncommon, with diverse patterns ranging from benign infiltrates to the potentially fatal acute respiratory distress syndrome. As acute respiratory failure due to drug-associated ILD has an unpredictable onset and rapid time course, establishing a diagnosis is often difficult. An accurate diagnosis is based on clinical, radiological (including high-resolution computed tomography) and histological manifestations, although is often only possible by exclusion. Cancer chemotherapy is commonly associated with acute disease that, on pathology, is often diffuse alveolar damage. Furthermore, a combination of drugs with or without radiotherapy can increase the risk of ILD. This article reviews treatments for non-small-cell lung cancer (NSCLC) that are associated with the development of ILD and how systematic evaluation of the possible role of these drugs in ILD is warranted. A difference between Japan and the rest of the world in reporting rates of ILD when gefitinib ('Iressa') has been used in advanced NSCLC is also discussed. However, the difference remains unexplained, leaving important epidemiological and mechanistic questions.
Incidental detection of adrenal myelolipoma: a case report and review of literature
Authors: Junaid Nabi, Danish Rafiq, Fatema N Authoy, Ghulam Nabi Sofi
Journal: Case Rep Urol (2013)

Introduction. Adrenal myelolipoma is a rare tumor that is benign in nature, usually asymptomatic, unilateral, and nonsecreting. It is composed of variable mixture of mature adipose tissue and hematopoietic elements and develops within the adrenal gland. With the widespread use of cross-sectional imaging modalities such as ultrasonography and computed tomography, the incidental detection of these tumors is increasing in frequency. Case Presentation. We report a case of adrenal myelolipoma in a 63-year-old Kashmiri male, who presented with pain in the right upper abdomen. Physical examination was unremarkable. Ultrasound abdomen showed the presence of a hyperechoic mass in the right suprarenal region with undefined margins. Contrast-enhanced computed tomography (CECT) scan of abdomen revealed a well-defined, round lesion in the right suprarenal region with heterogeneous attenuation suggesting the possibility of myelolipoma. The patient was subjected to right adrenalectomy and his postoperative course was uneventful. The histopathological evaluation of the mass confirmed the initial diagnosis of adrenal myelolipoma. Conclusion. Although mostly discovered as an "incidentaloma", the diagnosis of adrenal myelolipoma warrants thorough diagnostic study. Imaging techniques such as ultrasonography and CT scans as well as biochemical studies are useful for indicating the best treatment taking into account the size of the mass and possible hormone production. Surgical resection is advocated through extraperitoneal approach as it minimizes postoperative complications and leads to quicker recovery.
Survival analysis of heart failure patients: A case study
Authors: Tanvir Ahmad, Assia Munir, Sajjad Haider Bhatti, Muhammad Aftab, Muhammad Ali Raza
Journal: PLoS One (2017)
MeSH terms: Heart Failure / mortality, Ventricular Dysfunction, Left / mortality, Adult, Age Factors, Aged, Aged, 80 and over, Blood Pressure / physiology, Creatinine / blood, Female, Heart Failure / blood, Heart Failure / physiopathology, Humans, Kaplan-Meier Estimate, Male, Middle Aged, Pakistan / epidemiology, Sex Factors, Smoking / adverse effects, Sodium / blood, Survival Analysis, Ventricular Dysfunction, Left / blood, Ventricular Dysfunction, Left / physiopathology, Sodium, Creatinine

This study was focused on survival analysis of heart failure patients who were admitted to Institute of Cardiology and Allied hospital Faisalabad-Pakistan during April-December (2015). All the patients were aged 40 years or above, having left ventricular systolic dysfunction, belonging to NYHA class III and IV. Cox regression was used to model mortality considering age, ejection fraction, serum creatinine, serum sodium, anemia, platelets, creatinine phosphokinase, blood pressure, gender, diabetes and smoking status as potentially contributing for mortality. Kaplan Meier plot was used to study the general pattern of survival which showed high intensity of mortality in the initial days and then a gradual increase up to the end of study. Martingale residuals were used to assess functional form of variables. Results were validated computing calibration slope and discrimination ability of model via bootstrapping. For graphical prediction of survival probability, a nomogram was constructed. Age, renal dysfunction, blood pressure, ejection fraction and anemia were found as significant risk factors for mortality among heart failure patients.
Giant gastric trichobezoar in a young female with Rapunzel syndrome: case report
Authors: Mohamed Hamid, Youssef Chaoui, Mohamed Mountasser, Farid Sabbah, Mohammed Raiss, Abdelmalek Hrora, Mouna Alaoui, Mohammed Ahallat, Safaa Chaouch, Houria Ouazzani
Journal: Pan Afr Med J (2017)
Keywords: rapunzel syndrome, giant, malnutrition, trichobezoar, trichotillomania
MeSH terms: Abdominal Pain / etiology, Bezoars / diagnosis, Trichotillomania / complications, Vomiting / etiology, Case Reports, Adolescent, Bezoars / pathology, Bezoars / surgery, Endoscopy / methods, Female, Gastrostomy / methods, Hair, Humans, Laparotomy / methods, Malnutrition, Stomach, Tomography, X-Ray Computed

Rapunzel syndrome is an extremely rare complication of a gastric trichobezoar in. We report here the unusual case of a case of a 16 years old girl presented with severe abdominal pain and vomiting. Clinical examination revealed a malnourished girl, with presence of a mobile and sensitive abdominal mass of 20x15 cm witch filled the upper quadrant. An abdominal computed tomography scan showed a heterogeneous mass occupying the whole stomach cavity with extension into the third portion of the duodenum. A diagnostic of giant trichobezoar is suspected after further questioning reveling a trichotillomania, trichophagia and onychophagia. The removal of the trichobezoar endoscopically failed and it was possible to pull only few fibers of hair to comfort the diagnostic. She was subjected to an exploratory laparotomy. An antral gastrostomy were performed and a 25x10x7 cm trichobezoar was extracted. The patient had an uneventful postoperative outcome and was derived to psychiatry. Rapunzel syndrome is an uncommon trichobezoar, it's commonly found in young females usually with an underlying psychiatric disorder. Management requires gastrotomy. A psychiatric assessment and a long-term follow-up are advocated as a regular part of treatment to prevent recurrence.
Renal Involvement of CD20-Negative Intravascular Large B Cell Lymphoma with Neurological Manifestations
Authors: Faten Aqeel, Serena M Bagnasco, Duvuru Geetha
Journal: Case Rep Nephrol (2022)
MeSH terms: Case Reports

The involvement of hematological tumors such as lymphoma in the kidneys is a well-recognized phenomenon. Some of the distinct reported pathological processes resulting in kidney dysfunction include minimal change disease, lymphocytic invasion of the parenchyma, immune complex disposition, immunotactoid glomerulopathy, membranous glomerulopathy, and acute tubular injury. We report a rare case of CD20-negative intravascular lymphoma found on a kidney biopsy in a male with primary angiitis of the central nervous system (CNS) who presented with acute kidney injury and proteinuria. After the initiation of rituximab, cyclophosphamide, doxorubicin hydrochloride, vincristine sulfate, and prednisone (R-CHOP), kidney function improved and proteinuria resolved.
Seizure Associated Takotsubo Syndrome: A Rare Combination
Authors: Htay Htay Kyi, Nour Aljariri Alhesan, Sunil Upadhaya, Samer Al Hadidi
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

Takotsubo cardiomyopathy (TC) is increasingly recognized in neurocritical care population especially in postmenopausal females. We are presenting a 61-year-old African American female with past medical history of epilepsy, bipolar disorder, and hypertension who presented with multiple episodes of seizures due to noncompliance with antiepileptic medications. She was on telemetry which showed ST alarm. Electrocardiogram (ECG) was ordered and showed ST elevation in anterolateral leads and troponins were positive. Subsequently Takotsubo cardiomyopathy was diagnosed by left ventriculography findings and absence of angiographic evidence of obstructive coronary artery disease. Echocardiogram showed apical hypokinesia, ejection fraction of 40%, and systolic anterior motion of mitral valve with hyperdynamic left ventricle, in the absence of intracoronary thrombus formation in the angiogram. Electroencephalography showed evidence of generalized tonic-clonic seizure. She was treated with supportive therapy. This case illustrates importance of ECG in all patients with seizure irrespective of cardiac symptoms as TC could be the cause of Sudden Unexpected Death in Epilepsy (SUDEP) and may be underdiagnosed and so undertreated.