OpenMed/multicare-articles huggingface dataset:
Central Nervous System Demyelination in a Charcot-Marie-Tooth Type 1A Patient
Authors: Christos Koros, Maria-Eleftheria Evangelopoulos, Costas Kilidireas, Elisabeth Andreadou
Journal: Case Rep Neurol Med (2013)

Introduction. Central nervous system involvement, either clinical or subclinical, has been reported mainly in X-linked Charcot-Marie-Tooth (CMT-X) patients. Case Presentation. We present the case of a 31-year-old man with a genetically confirmed history of CMT1A who developed CNS involvement mimicking multiple sclerosis (MS). Clinical, imaging, and laboratory findings suggested an autoimmune CNS demyelination. Discussion. Although the simultaneous existence of CMT1A and MS could be coincidental we postulate that overexpression of PMP22, the target protein in CMT1A, might influence the immunological self-tolerance to CNS proteins via molecular mimicry, leading to a CNS autoimmune demyelinating disorder.
Isolated interrupted aortic arch: unexpected diagnosis in a 63-year-old male
Authors: Hassan Javadzadegan, Jahan Porhomayon, Alireza Sadighi, Mehrdad Yavarikia, Nader Nader
Journal: Case Rep Crit Care (2011)
MeSH terms: Case Reports

A 63-year-old male with history of hypertension, dyspnea on exertion, and chronic chest pain was admitted for elective cardiac angiography. Arterial blood pressure was 160/90 mmHg in both arms. Femoral and popliteal pulses were extremely weak, and third (S3) and fourth (S4) heart sounds were audible. Aortography showed a mildly dilated aortic root with double brachiocephalic trunk and interruption of aortic arch at isthmus. Profuse and well-developed collaterals appeared at neck and thorax. The patient was recommended to take medical treatment for his hypertension and advanced heart failure. The aim of this paper, is to review the diagnostic and therapeutic options for treatment of the interrupted aortic arch.
Melanotic neuroectodermal tumor of infancy: A case report and review of the surgical treatment
Authors: Yingqiu Cui, Zhe Mao, Chunhui Liao
Journal: Oncol Lett (2015)
Keywords: mandibular tumor resection, melanotic neuroectodermal tumor of infancy

Melanotic neuroectodermal tumor of infancy (MNTI) is a rare, fast-growing, benign tumor originating from the neural crest. The tumor most often occurs during the first year of life. The predilection site of MNTI is the anterior maxilla, whereas lesions of the mandible are uncommon and account for only 6% of all cases. At present, the most common treatment for MNTI is surgical resection, however, tumor recurrence arises in 10-60% of cases. The optimal extent of surgical resection is a matter of debate; rapid growth and the possibilities of malignant transformation and metastasis indicate aggressive surgical resection. However, extensive resection may interfere with post-operative growth and development. The procedure should therefore preserve as much of the surrounding tissue as possible. The present case study examines a rare case of right-sided mandibular MNTI in a two-month-old female. The association between the tumor and the surrounding sclerotin, affected dental germ and the condition of the inferior alveolar nerve, were observed during the operative and post-operative periods. In addition, previous cases of MNTI were reviewed to evaluate the optimal scope of surgical resection.
A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family
Authors: Nagwa E A Gaboon, Asia Parveen, Ahmed El Beheiry, Jumana Y Al-Aama, Mosab S Alsaedi, Naveed Wasif
Journal: Front Pediatr (2019)
Keywords: ccn6, nonsense mediated decay, consanguinity, novel frameshift mutation, progressive pseudorheumatoid dysplasia (pprd)
MeSH terms: Case Reports

Background: Progressive pseudorheumatoid dysplasia (PPRD) inherited in an autosomal recessive fashion, is a disabling disease, characterized by platyspondyly, irregularities of the vertebral bodies, narrowing of the intervertebral discs and intraarticular spaces, widening of the epiphysis-metaphysis, polyarthralgia, multiple joint contractures, and disproportionate short stature. A number of studies have been performed on this deformity in various populations around the globe, including the Arab population. Mutations in CCN6, located on 6q22, are reported to cause this anomaly. Case Presentation: The present study describes the investigation of a consanguineous family of Yemeni origin. Clinical examination of the patient revealed short stature with progressive skeletal abnormalities, stiffness and enlargement of small joints of the hands along with restriction of movements of proximal interphalangeal (PIP) and distal interphalangeal (DIP) joints with weakness and gait disturbance. Sanger sequencing revealed a novel homozygous frameshift deletion mutation (c.746delT; p.Val249Glyfs*10) in CCN6 which may lead to NMD (Nonsense mediated decay). This mutation expands the spectrum of pathogenic variants in CCN6 causing PPRD.
Radiofrequency Ablation of Parathyroid Glands to Treat a Patient With Hypercalcemia Caused by a Novel Inactivating Mutation in CaSR
Authors: Yu Hao, Zhikai Lei, Nanjing Shi, Lingying Yu, Weiqin Ji, Xianfeng Zhang
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: calcium-sensing receptor, hypocalciuric hypercalcemia, inactivating mutation, parathyroid gland, radiofrequency ablation
MeSH terms: Hypercalcemia / surgery, Parathyroid Glands / surgery, Radiofrequency Ablation / methods, Receptors, Calcium-Sensing / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, Calcium / metabolism, Calcium-Regulating Hormones and Agents / therapeutic use, Cinacalcet / therapeutic use, HEK293 Cells, Humans, Hypercalcemia / blood, Male, Mutation, Parathyroid Glands / metabolism, Parathyroid Hormone / blood, Phenethylamines / pharmacology, Propylamines / pharmacology, Receptors, Calcium-Sensing / metabolism, Treatment Failure, CASR protein, human, Calcium-Regulating Hormones and Agents, N-(2-chlorophenylpropyl)-1-(3-methoxyphenyl)ethylamine, Parathyroid Hormone, Phenethylamines, Propylamines, Receptors, Calcium-Sensing, Calcium, Cinacalcet

Objective:
We identified a novel inactivating mutation in the calcium-sensing receptor (CaSR) gene in a patient with refractory hypocalciuric hypercalcemia and analyzed its function. The effectiveness of radiofrequency ablation of the parathyroid glands to treat hypercalcemia caused by this mutation was explored.
Methods:
Clinical data of patients before and after radiofrequency ablation were retrospectively analyzed. The CaSR mutation (D99N) found in the patient was studied in cell lines. HEK-293 cells were transfected with plasmids containing wild-type (WT) or mutant CaSR genes (D99N and W718X). Expression levels of the respective CaSR proteins were measured, and their functions were assessed by examining the effect of NPS R-568 (a CaSR agonist) on intracellular Ca2+ oscillations and that of exogenous parathyroid hormone (PTH) on intracellular cyclic adenosine monophosphate (cAMP) levels.
Results:
The effectiveness of pharmacological treatment was poor, whereas radiofrequency ablation of the parathyroid glands resulted in controlled blood calcium and PTH levels in the patient. In cell lines, upon NPS R-568 administration, the amplitude of intracellular Ca2+ oscillations in the D99N group was lower than that in the WT group and higher than that in the W718X group. Upon administration of PTH, intracellular cAMP levels in the D99N group were higher than those in the WT group and lower than those in the W718X group.
Conclusion:
The homozygous mutation D99N reduced CaSR activity and caused more severe hypocalciuric hypercalcemia. For patients with this type of hypercalcemia and poor response to pharmacological treatments, radiofrequency ablation of the parathyroid glands may be a suitable treatment option.
Large B-cell lymphoma in a dog: A cyto-histopathological evaluation and Immunophenotyping according to WHO classification for canine lymphomas
Authors: Zahra Nikousefat, Mohammad Hashemnia, Moosa Javdani
Journal: Vet Res Forum (2016)
Keywords: canine lymphomas, cyto-histopathological features, immunohistochemistry
MeSH terms: Case Reports

In the present study, we described cyto-histopathological features and immunophenotyping of the large B-cell lymphoma in an 8-year-old mixed breed dog with applying the World Health Organization (WHO) system of classification of canine lymphomas. In fine-needle aspiration (FNA), lymph nodes were involved by neoplastic cells of intermediate to large size with deep blue cytoplasm; consist of centroblasts, immunoblast and medium-sized cells. Histopathologically, the follicles and sinuses of lymph nodes were replaced by sheets of numerous immunoblasts (less than 90.0% of total cells) and centroblasts. Numerous mitotic figures were also observed. Immunohistochemical analysis presented that the neoplastic cells express B-cell phenotype CD20 and CD79a, but do not stain for T phenotype CD3. On the basis of cytology, histopathology and immunohistochemical findings, the present tumor was diagnosed as diffuse large B-cell lymphoma, high-grade centroblastic type (DLBCL-CB) according to WHO histological classification. Applying this classification system for diagnosis of canine lymphomas is very useful and has a high accuracy and consistency. However, further co-operative studies between clinicians and pathologists should be performed, in order to improve the effectiveness of this classification.
An unusual case of primary osteosarcoma of the rib in an adult
Authors: Suravi Mohanty, Y K Inchara, Julian A Crasta, Anuradha Ananthamurthy
Journal: Indian J Med Paediatr Oncol (2010)
Keywords: adult, chest wall tumors, flat bones, microscopy, osteosarcoma, ribs
MeSH terms: Case Reports

Primary osteosarcomas are one of the most common malignant bone tumors principally affecting the long bones in children and adolescents. An unusual case of a primary osteoblastic osteosarcoma of the rib in a 42-year-old male is presented here. The patient underwent a wide excision of the tumor and chest wall reconstruction. Although clinically unsuspected in this unusual site, the classic microscopic feature of a ramifying osteoid matrix amidst the tumor cells was diagnostic of an osteosarcoma.
Ultrasound of Lipomatosis of Nerve Associated with Macrodactyly: 'Spaghetti and Chocolate Cookie' Appearance
Authors: Kristin Francken, Tjeerd Jager, Johan Vanlauwe, Johan de Mey, Maryam Shahabpour, Michel De Maeseneer
Journal: J Belg Soc Radiol (2022)
Keywords: lipomatosis of nerve fibrolipomatous hamartoma, us, us macrodystrophia lipomatosa macrodactyly
MeSH terms: Case Reports

We studied the US imaging findings of lipomatosis of nerve and macrodystrophia lipoma in three patients. Three patients were seen at three affiliated institutions with an enlarged digit. They all underwent US, subsequently followed by an MRI study. The nerves showed marked enlargement and extension over a length of 9-16 cm. Digital branches were always involved. The appearance on cross section was an enlarged hyperechoic endoneurium with inlying thickened and hypoechoic fascicles. On transverse images this resulted in a 'chocolate cookie' aspect and in the long axis a 'spaghetti-like' image. The US appearance of lipomatosis of nerve, not unlike MRI, is rather typical. With US, care should be taken in areas that are more difficult to assess as the sole of the foot, or where the 'chocolate cookie' appearance is not so obvious, such as the digits.
Carpometacarpal Dislocation of the Third to Fifth Fingers and an Associated Fracture of the Hamate in a Military Paratrooper
Authors: Georgios Kalinterakis, Emmanouil Antonogiannakis, Arezoo Abdi, Georgios Demetriades, Alexandros Koulouktsis, Athanasios Syllaios, Antonios Koutras, Sotiria Vrouva, Anastasios Papagiavis, Miltiadis Ziogas
Journal: Case Rep Orthop (2020)
MeSH terms: Case Reports

Multiple carpometacarpal dislocations with a simultaneous fracture of the hamate represent less than 1% of all injuries to the hand and wrist regions, with a scarcity of published cases. These injuries usually require a great force, and diagnosis can be missed or delayed because of the high likelihood of other severe concomitant injuries. We report a case of acute closed dislocation of the third through fifth carpometacarpal joints and an associated fracture of the hamate in a military paratrooper. The injury was caused by a wrong landing technique during parachuting. The patient was managed with primary surgical repair, and after a six-month follow-up, he has excellent functional results. The fact that both this clinical entity and the mechanism of injury are very unusual a high index of suspicion is needed, especially for orthopedic surgeons working in military hospitals. Additionally, given that there is a paucity of published cases and optional treatment is controversial, this study corroborates the superiority of surgical repair in a long-term basis.
Comparison of Herbarium Label Data and Published Medicinal Use: Herbaria as an Underutilized Source of Ethnobotanical Information
Authors: E N F Souza, J A Hawkins
Journal: Econ Bot (2017)
Keywords: herbaria, ethnobotany, meta-analyses, mode of application, therapeutic use

The use of herbarium specimens as vouchers to support ethnobotanical surveys is well established. However, herbaria may be underutilized resources for ethnobotanical research that depends on the analysis of large datasets compiled across multiple sites. Here, we compare two medicinal use datasets, one sourced from published papers and the other from online herbaria to determine whether herbarium and published data are comparable and to what extent herbarium specimens add new data and fill gaps in our knowledge of geographical extent of plant use. Using Brazilian legumes as a case study, we compiled 1400 use reports from 105 publications and 15 Brazilian herbaria. Of the 319 species in 107 genera with cited medicinal uses, 165 (51%) were recorded only in the literature and 55 (17%) only on herbarium labels. Mode of application, plant part used, or therapeutic use was less often documented by herbarium specimen labels (17% with information) than publications (70%). However, medicinal use of 21 of the 128 species known from only one report in the literature was substantiated from independently collected herbarium specimens, and 58 new therapeutic applications, 25 new plant parts, and 16 new modes of application were added for species known from the literature. Thus, when literature reports are few or information-poor, herbarium data can both validate and augment these reports. Herbarium data can also provide insights into the history and geographical extent of use that are not captured in publications.
Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability
Authors: Nancy Choucair, Cecile Mignon-Ravix, Pierre Cacciagli, Joelle Abou Ghoch, Ali Fawaz, André Mégarbané, Laurent Villard, Eliane Chouery
Journal: Mol Cytogenet (2015)
Keywords: hearing loss, intellectual disability, monosomy 9p, protein tyrosine phosphatase receptor delta, trigonocephaly
MeSH terms: Case Reports

Background:
The premature fusion of metopic sutures results in the clinical phenotype of trigonocephaly. An association of this characteristic with the monosomy 9p syndrome is well established and the receptor-type protein tyrosine phosphatase gene (PTPRD), located in the 9p24.1p23 region and encoding a major component of the excitatory and inhibitory synaptic organization, is considered as a good candidate to be responsible for this form of craniosynostosis. Moreover PTPRD is known to recruit multiple postsynaptic partners such as IL1RAPL1 which gene alterations lead to non syndromic intellectual disability (ID).
Results:
We describe a 30 month old boy with severe intellectual disability, trigonocephaly and dysmorphic facial features such as a midface hypoplasia, a flat nose, a depressed nasal bridge, hypertelorism, a long philtrum and a drooping mouth. Microarray chromosomal analysis revealed the presence of a homozygous deletion involving the PTPRD gene, located on chromosome 9p22.3. Reverse Transcription PCR (RT-PCR) amplifications all along the gene failed to amplify the patient's cDNA in fibroblasts, indicating the presence of two null PTPRD alleles. Synaptic PTPRD interacts with IL1RAPL1 which defects have been associated with intellectual disability (ID) and autism spectrum disorder. The absence of the PTPRD transcript leads to a decrease in the expression of IL1RAPL1. These results suggest the direct involvement of PTPRD in ID, which is consistent with the PTPRD -/- mice phenotype. Deletions of PTPRD have been previously suggested as a cause of trigonocephaly in patients with monosomy 9p and genome-wide association study suggested variations in PTPRD are associated with hearing loss.
Conclusions:
The deletion identified in the reported patient supports previous hypotheses on its function in ID and hearing loss. However, its involvement in the occurrence of metopic synostosis is still to be discussed as more investigation of patients with the 9p monosomy syndrome is required.
May-Thurner Syndrome: ﻿A Neglected Cause of Unilateral Leg Swelling
Authors: Ehab Badawy, Mohammed A Seif, Amr Elmoheen
Journal: Open Access Emerg Med (2020)
Keywords: may-thurner syndrome, deep vein thrombosis, leg swelling
MeSH terms: Case Reports

May-Thurner syndrome (MTS) is a clinical condition characterized by the compression of the left iliac vein by the right iliac artery. This condition predisposes the patient to deep venous thrombosis (DVT). We present the case of a 30-year﻿-old female who arrived at the emergency department of our facility with progressive left leg swelling for four weeks, with low-risk probability for DVT. Examination revealed left leg swelling with pitting edema extending up to the knee. Her calf muscle was tender to palpation. Dorsalis pedis, anterior tibial, and posterior tibial pulsations were fairly palpable due to the edema; however, the rest of her pulsations were appropriately felt. Therefore, the provisional diagnosis of possible DVT was made, and further investigations were requested. We present this case intending to highlight the clinical presentation of May-Thurner syndrome, its diagnosis, and treatment.
Return to flying after coronary artery disease: A case series among Malaysian pilots
Authors: Zulkefley Mohammad, Rosnah Ismail, Mohd Rafizi Mohamed Rus, Mohammed Haizar Haron
Journal: J Occup Health (2021)
Keywords: coronary artery disease, pilot, return to work, revascularization, risk assessment
MeSH terms: Coronary Artery Disease / diagnosis, Military Personnel, Occupational Diseases / diagnosis, Pilots, Return to Work, Work Capacity Evaluation, Case Reports, Adult, Humans, Malaysia, Male, Middle Aged, Retrospective Studies, Risk Assessment

Objectives:
Pilots with coronary artery disease (CAD) are at increased risk of myocardial infarction, stroke, and possibly death. Return to flying duties may be considered after a detailed risk assessment. The aim of this retrospective case series is to describe the return to flying duty process.
Methods:
We conducted a retrospective case review of pilots diagnosed with CAD at the Institute of Aviation Medicine (IAM), Royal Malaysian Air Force (RMAF) in October 2020.
Results:
Thirteen cases of CAD were included in the review. Ten pilots were diagnosed after developing acute coronary syndrome; the remaining three pilots were diagnosed during a routine medical examination via an exercise stress test. Twelve pilots required a revascularization procedure. A total of 11 pilots (84.6%) were recertified for flying duties, while another two were disqualified. The duration to recertification for these 11 pilots was between three months and one year.
Conclusions:
The risk assessment was initiated with initial risk-stratification using population-appropriate risk calculator combined with the 4 × 4 aeromedical risk matrix. The reassessment of return to flying after coronary artery disease must be carried out no sooner than six months after the event. Pilots must be hemodynamically stable with no evidence of significant inducible ischemic left and a minimum 50% of ventricular ejection fraction (LVEF). A follow-up is recommended at the initial six months after recertification and then annually with a routine noninvasive cardiac assessment.
Fundoscopic Changes in Maroteaux-Lamy Syndrome
Authors: Augusto Magalhães, Jorge Meira, Ana Maria Cunha, Raul Jorge Moreira, Elisa Leão-Teles, Manuel Falcão, Jorge Breda, Fernando Falcão-Reis
Journal: Case Rep Ophthalmol Med (2019)
MeSH terms: Case Reports

Purpose:
To describe a clinical case of mucopolysaccharidosis type VI (MPS VI), or Maroteaux-Lamy syndrome, with fundoscopic alterations that may correspond to scleral deposits of glycosaminoglycans.
Materials and methods:
Clinical case report.
Results:
A 16-year-old girl with MPS VI was examined at the Ophthalmology Department for poor vision due to opacified corneas. Treatment consisted of bilateral penetrating keratoplasty. Retinographies and enhanced depth imaging optical coherence tomography (EDI-OCT) were performed after surgery, suggesting the presence of scleral glycosaminoglycan deposits. The patient evolved with stable corneal and fundoscopic findings.
Conclusions:
To our knowledge, this is the first case of MPS VI described in vivo with suspected deposits of glycosaminoglycans in the sclera. Fundoscopic alterations are not usually included in the ocular pathological spectrum of MPS VI. However, with improved control of systemic comorbidities, survival rates of these patients have increased, which in turn has made it possible to observe other changes besides the ones that were classically described. Despite being particularly challenging to manage, efforts should be made to maximizing the visual acuity of these patients, in order to provide them the best possible quality of life.
Acquired hepatocerebral degeneration: A case report
Authors: Clarice Listik, Gislaine Cristina Lopes Machado-Porto, Maira Okada de Oliveira, Fábio Henrique de Gobbi Porto
Journal: Dement Neuropsychol (2012)
Keywords: acquired hepatocerebral degeneration, hepatic encephalopathy, liver disease
MeSH terms: Case Reports

Acquired hepatocerebral degeneration is an underdiagnosed neurologic syndrome characterized by parkinsonism, ataxia or other movement disorders and by neuropsychiatric and cognitive symptoms. It occurs in patients with chronic liver disease, especially those who develop portosystemic shunting and is often unrecognized as a cause of cognitive decline. Recently, its pathogenesis has been associated with manganese accumulation in basal ganglia and some treatments proposed. The aim of this article was to report a case and discuss some discoveries in connection with the disease.
Cerebral sinovenous thrombosis as a complication of otitis media
Authors: Shafee Salloum, Kira Belzer
Journal: Clin Case Rep (2018)
Keywords: cerebral venous thrombosis, intracranial pressure, mastoiditis, otitis media
MeSH terms: Case Reports

Otogenic cerebral sinovenous thrombosis (CSVT) is a rare complication of otitis media and associated with significant morbidity and mortality. Classic clinical signs of mastoiditis (pain, swelling, and erythema posterior to the pinna) are not always present at presentation. Treatment of otogenic CSVT consists of conservative surgery, antibiotics, and anticoagulation.