scholarly journals Ellis–van Creveld Syndrome in Iran, a Case Report and Review of Disease Cases in Iran, Middle East

2021 ◽  
Vol 28 (2) ◽  
pp. 11
Author(s):  
Behnam Baghianimoghadam ◽  
Aidin Arabzadeh ◽  
Yousef Fallah
Keyword(s):  
Valgus Deformity ◽  
Genetic Mutation ◽  
Consanguineous Marriage ◽  
Radiographic Examination ◽  
Enamel Hypoplasia ◽  
Distal Femoral Osteotomy ◽  
Online Databases ◽  
Geographic Origins ◽  
History Of ◽  
Ellis Van Creveld Syndrome

Introduction: Chondroectodermal dysplasia (Ellis–van Creveld syndrome (EVC)) (OMIM: #225500) is a rare skeletal dysplasia with unknown exact prevalence. EVC patients may have abnormal skeletal and extra skeletal symptoms. We report a case of EVC patient and review previous cases reported in Iran.Materials and methods: The patient was a 30 years old woman referred to our hand clinic for an extra finger in both hands. She was born to a consanguineous marriage. The patient had a history of bilateral valgus deformity of the knees, for which she underwent proximal tibial and distal femoral osteotomy. Upon examination, the patient had bilateral polydactyly and brachymetacarpia with hypotrophic fingernails. She was about 120 cm tall and had acromesomelic type dwarfism. Oral examination revealed serrated incisal margins, dental transposition, a diastema, conical teeth and, enamel hypoplasia. In the radiographic examination of upper extremity, postaxial polydactyly and polymetacarpia, enlarged distal radius, and fusion of capitate and hamate were seen. We searched online databases (Pubmed, Scopus, Google Scholar) and found 14 Iranian papers with 21 reported patients (there was no time limit). We reviewed available clinical and genetic data and the geographic origins of patients.Results: 14 articles reporting 22 EVC patients (including our patient) from Iran have been published in Persian and English (7 in Persian and 7 in English). All patients presented with characteristic EVC symptoms but were diagnosed at a relatively late age, 18 patients were born to consanguineous marriages.Conclusions: It seems that based on these studies, it is possible to identify some families with this genetic mutation. We can warn such families of the dangers of consanguineous marriage through genetic counseling before marriage. In addition, by identifying families with such problems, we can detect such anomalies in the baby earlier with more careful prenatal care.

Developmental Disturbance of a Maxillary Permanent Lateral Incisor Following Trauma at the Age of 16 Months: A 6-Year Follow-Up

2019 ◽  
Vol 43 (3) ◽  
pp. 207-210
Author(s):  
Sreekanth K Mallineni ◽  
Hessa Al-Mulla ◽  
Robert P Anthonappa ◽  
Joseph CY Chan ◽  
Nigel M King
Keyword(s):  
Tooth Germ ◽  
Permanent Tooth ◽  
Lateral Incisor ◽  
Radiographic Examination ◽  
Enamel Hypoplasia ◽  
Anterior Teeth ◽  
Carious Lesions ◽  
Developmental Disturbance ◽  
History Of

A 3 year and 8 months old Chinese boy was referred for a consultation regarding his missing maxillary anterior teeth. He had a history of trauma to his primary maxillary anterior teeth due to a fall at the age of 16 months. Clinical examination of the patient indicated multiple carious lesions and inadequate oral hygiene. Radiographic examination revealed intrusion of the primary left lateral incisor, with evidence of damage to the permanent tooth germ. Subsequently, the patient was followed-up for almost six years during which his permanent maxillary left lateral incisor erupted exhibiting an unusual morphology. Clinically enamel hypoplasia and radiographically dens invaginatus were evident in affected tooth.

scholarly journals Lung adenocarcinoma concomitant with xeroderma pigmentosum: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Masataka Matsumoto ◽  
Kazumi Kaneshiro ◽  
Kiyonobu Takatsuki
Keyword(s):  
Epidermal Growth Factor Receptor ◽  
Growth Factor ◽  
Side Effects ◽  
Epidermal Growth Factor ◽  
Lung Adenocarcinoma ◽  
Xeroderma Pigmentosum ◽  
Growth Factor Receptor ◽  
Consanguineous Marriage ◽  
History Of ◽  
Epidermal Growth

Abstract Background Xeroderma pigmentosum is a rare, autosomal-recessive photosensitive dermatosis. Patients with xeroderma pigmentosum have an impaired ability to repair deoxyribonucleic acid damage caused by ultraviolet rays, resulting in skin cancer. Patients with xeroderma pigmentosum are more susceptible to some cancers. We herein report a case of xeroderma pigmentosum accompanied by lung cancer. Case presentation The patient was a Japanese woman in her 70s with a family history of consanguineous marriage. Her medical history included squamous cell carcinoma and basal cell carcinoma, in addition to xeroderma pigmentosum. She presented with dry skin with small, pigmented spots, which were particularly focused around the areas exposed to sunlight. Chest computed tomography was conducted to assess for any evidence of metastatic skin carcinoma, and revealed a tumor in the left upper subpleural lobe of the lung. Consequently, she was referred to our department. Finally, we diagnosed lung adenocarcinoma (pT2aN0M1b: stage IVA). She had an epidermal growth factor receptor (EGFR) mutation (p.L858R). Treatment with an epidermal growth factor receptor tyrosine kinase inhibitor (gefitinib) was initiated, and the tumor gradually regressed. No side effects were observed. However, she later died from aspiration pneumonia. Conclusions Although xeroderma pigmentosum is rare, a history of consanguineous marriage should be verified. Because of the severe side effects of cisplatin and radiotherapy in xeroderma pigmentosum patients, the risks and benefits of treatment should be considered thoroughly.

LITERARY HISTORIES OF THE NATURAL HISTORICAL BOOK

2016 ◽  
Vol 44 (2) ◽  
pp. 411-421
Author(s):  
Jonathan V. Farina
Keyword(s):  
Actor Network Theory ◽  
Popular Science ◽  
History Of The Book ◽  
Tour Guides ◽  
Online Databases ◽  
History Of ◽  
Knowledge Of Evolution ◽  
Literary Histories ◽  
Correspondence Project ◽  
Darwin Correspondence Project

Inspired in part by the coincident bicentenary of Darwin's birth and the sesquicentennial of The Origin of Species in 2009, scholars have been hard at work these last ten years writing substantial histories of nineteenth-century natural history and geology. These histories include exceptional books by scholars trained primarily in literary studies: Cannon Schmitt's Darwin and the Memory of the Human (2009); Daniel Brown's The Poetry of Victorian Scientists (2013); and Gowan Dawson's Darwin, Literature and Victorian Respectability (2007). With a few notable exceptions, however, the books I was invited to review here are written mostly by historians of science. And yet they are no less literary for that. All are marked by a tacit, pragmatic adoption of actor-network theory; by the extraordinary resources of the Darwin Correspondence Project and online databases of British periodicals; and often, too, by glossy illustrations. Further, nearly all of these histories share a methodological investment in what we call the history of the book, including all the economics of publishing (formats, sizes, fonts, prices, print runs, reviews, sales, generic conventions) and a political and heuristic stake in popularization and the general reading public. While Darwin (and Lyell, Herschel, Hooker, Huxley, and Spencer) remain at the center of the discussion, the empirically-minded history-of-the-book approach and investment in everyday readers reconstructs and legitimates a robust popular science that was engaged with, but not subordinate to, and often more liberal than the elite science of the X Club, the Royal Society, and other exclusive institutions. With the help of museums, lectures, tour guides, and other natural scientific literature, everyday readers produced their own knowledge of evolution, stratigraphy, speciation, animal emotion, and the sex life of plants.

scholarly journals Correction of severe facial asymmetry: A case with fractured condyle

2019 ◽  
Vol 9 ◽  
pp. 59-64
Author(s):  
Ramesh Agrawal ◽  
Dolly P. Patel ◽  
Bhagyashree B. Desai
Keyword(s):  
Facial Asymmetry ◽  
Post Treatment ◽  
Radiographic Examination ◽  
Rigid Fixation ◽  
Class Iii ◽  
Class Iii Malocclusion ◽  
History Of ◽  
Condylar Head ◽  
The Stability ◽  
The Right

The current paper depicts the challenges faced during the treatment of a complicated case of mandibular condylar head fracture, facial asymmetry, and centric relation-centric occlusion (CR-CO) discrepancy along with Class III malocclusion. A 20-year-old female reported with the chief complaint of difficulty in chewing and concern with her appearance due to deviated jaw and had a history of trauma over chin region. The clinical and radiographic examination revealed significant facial asymmetry with long face, right-sided deviation of the mandible, fractured condyle, CR-CO discrepancy, cross- bite with Class III malocclusion, and a missing mandibular single incisor along with non-vital 21 and 22. She was treated with 0.022 MBT appliance along with guiding plane for CR-CO correction followed by asymmetric bilateral sagittal split osteotomy and differential set back on the right and left sides and finally rigid fixation. A good facial profile and functional occlusion were achieved and non-vital 21 and 22 were esthetically rehabilitated with PFM crowns. The stability of surgical as well as orthodontic corrections was excellent and appreciable in the records obtained 2-year post-treatment. When faced with mutilated malocclusion, with multiple problems, sequential correction of functional malocclusion with dental decompensation followed by skeletal correction with surgical approach has yielded a appreciable facial correction with good stability showing 2-year post-treatment follow-up.

scholarly journals Syndrome D’aniridie Associé À La Dermatite Atopique: À Propos D’un Cas

2016 ◽  
Vol 12 (6) ◽  
pp. 97
Author(s):  
Abba Kaka H.Y ◽  
Salissou L. ◽  
Amza A. ◽  
Daou M.
Keyword(s):  
Family History ◽  
Autosomal Dominant ◽  
Positive Family History ◽  
Consanguineous Marriage ◽  
Dominant Mode ◽  
Ocular Lens ◽  
Lens Implantation ◽  
History Of ◽  
Genetic Anomaly

Aniridia syndrome is a genetic anomaly affecting all ocular structures; it is transmitted by an autosomal dominant mode. In its isolated form aniridia is characterized by a hypoplasia of the iris frequently associated with other ocular anomalies. It the syndromic form it is associated to other systemic abnormalities. Authors are here reporting a case of aniridia associating: a corneal pannus, total aniridia, lens ectopia, and cataract found in a 14 years old girl. She also presented an atopic background with a positive family history of atopia. She is issued from a first degree consanguineous marriage. The management was multidisciplinary. In ophthalmology she underwent an intra-capsular extraction of the lens in both eyes with no intra-ocular lens implantation. Dermatological management was treatment of cuteanous lesions with emollients, corticoids and antihistamines drugs and ointments.

scholarly journals Maerua juncea Pax and M. schinzii Pax (Capparaceae): A comparative analysis of their ethnobotany and ethnomedicinal uses

2020 ◽  
Vol 11 (4) ◽  
pp. 6017-6022
Author(s):  
Alfred Maroyi
Keyword(s):  
Leaf Extracts ◽  
Scientific Publications ◽  
Respiratory Problems ◽  
Traditional Medicines ◽  
Plant Parts ◽  
Online Databases ◽  
Toxicological Studies ◽  
History Of ◽  
Cytotoxicity Activities ◽  
Ethnomedicinal Uses

Maerua juncea Pax and M. schinzii Pax have a long history of medicinal use in southern Africa. This study aimed to review the ethnomedicinal uses, phytochemistry and pharmacological properties of the two species. Results of this study are based on data derived from several online databases such as Scopus, Google Scholar, PubMed and Science Direct, and pre-electronic sources such as scientific publications, books, dissertations, book chapters and journal articles. The leaves, roots, stems or whole plant parts of M. juncea and M. schinzii are mainly used as protective charm and tonic, and traditional medicines for fever, heart problems, headache, earache, skin disorders, fatigue and respiratory problems. This study showed that betaines and quaternary ammonium compounds such as 3-hydroxyprolinebetaine, proline betaine and 3-hydroxy-1,1-dimethyl pyrrolidinium had been identified from the aerial parts of M. juncea. In contrast, alkaloids, bitter principles, coumarins, flavonoids, saponins and terpenes have been identified from the leaves of M. schinzii. The leaf extracts and compounds isolated from the species exhibited antibacterial, antifungal, anti-HIV and cytotoxicity activities. There is a need for extensive phytochemical, pharmacological and toxicological studies of crude extracts of M. juncea and M. schinzii to establish the safety profiles of different preparations of the two species.

Prolonged Retention of Foreign Bodies in the Stomach

PEDIATRICS ◽  
1977 ◽  
Vol 60 (4) ◽  
pp. 460-462
Author(s):  
Gerald A. Mandell ◽  
Henrietta K. Rosenberg ◽  
Louise Schnaufer
Keyword(s):  
Foreign Bodies ◽  
The Other ◽  
Radiographic Examination ◽  
History Of ◽  
Prolonged Retention

Two patients had prolonged retention of small round foreign bodies in the stomach. Both patients had a history of a pyloromyotomy. Radiographic examination revealed a prepyloric web in one patient and a deformed pylorus in the other. These findings were confirmed by surgery.

DISTAL FEMORAL OSTEOTOMY FOR VALGUS DEFORMITY OF THE KNEE

Orthopedics ◽  
1992 ◽  
Vol 15 (11) ◽  
pp. 1283-1290
Author(s):  
Glenn C Terry ◽  
Peter M Cimino
Keyword(s):  
Valgus Deformity ◽  
Femoral Osteotomy ◽  
Distal Femoral Osteotomy

Idiopathic Bilateral Auricular Ossificans: A Case Report and Review of the Literature

2004 ◽  
Vol 128 (12) ◽  
pp. 1432-1434 ◽  
Author(s):  
Whitney A. High ◽  
Matthew J. Larson ◽  
Mai P. Hoang
Keyword(s):  
Radiographic Examination ◽  
Ectopic Calcification ◽  
Rare Occurrence ◽  
Review Of The Literature ◽  
Routine Testing ◽  
Elastic Cartilage ◽  
Addison Disease ◽  
Pathologic Findings ◽  
History Of ◽  
The Right

Abstract Petrification of the auricle results in a rigid and immalleable ear. The etiology of such a finding is usually ectopic calcification. The condition has been associated with injurious processes, such as cold injury, and with various endocrinopathies, including Addison disease. In a significant number of cases, ossification occurs without knowledge of the precipitating cause or event. True auricular ossification is a rare occurrence, with only 12 histologically confirmed cases in the literature. We herein present the clinical and pathologic findings of another case. A 60-year-old man with diet-controlled diabetes presented with a 10-year history of slowly and insidiously stiffened auricles. He denied any precipitating historical events. Routine testing did not demonstrate systemic abnormalities. Radiographic examination revealed opacities consistent with bony structure in the auricles of the ears, with the right more prominent than the left. Histologic sampling demonstrated ossification with deposition of trabecular bone in proximity to normal elastic cartilage.

scholarly journals Traumatic bone cyst of mandible: a case series

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Farnoosh Razmara ◽  
Zahra Ghoncheh ◽  
Ghazal Shabankare
Keyword(s):  
Bone Cyst ◽  
Clinical Signs ◽  
Case Series ◽  
Signs And Symptoms ◽  
Radiographic Examination ◽  
Radiographic Evaluation ◽  
History Of ◽  
Mandibular Region ◽  
Clinical Signs And Symptoms ◽  
Anterior Mandible

Abstract Background A traumatic bone cyst is an uncommon nonneoplastic lesion of the jaws that is considered as a “pseudocyst” because of the lack of an epithelial lining. This lesion is particularly asymptomatic and therefore is diagnosed by routine dental radiographic examination as a unilocular radiolucency with scalloped borders, mainly in the posterior mandibular region. The exact etiopathogenesis of the lesion remains uncertain, though it is often associated with trauma. Case presentation We report three Persian cases of traumatic bone cyst with different clinical and radiographic features, and we present a review of the literature to further discuss diagnostic and treatment challenges. Only one of the three patients reported a history of trauma, and despite the usual signs and symptoms of the lesion, extension of the defect to the ramus, swelling of the lingual cortex, and their unusual presence in the anterior mandible were noted in these patients. Conclusions Because features of this cyst can be varied, careful history taking and radiographic evaluation alongside the clinical signs and symptoms have a very significant role in definitive diagnosis, appropriate treatment, and accurate assessment of prognosis.

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