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facial pathology

Alberto Zanatta, Luca Bezzi, Nicola Carrara, Cicero Moraes, Gaetano Thiene, Fabio Zampieri
Morgagni is considered the father of pathological anatomy. He died in 1771, 89 years old, and was buried in Saint Maxim church in Padua, where his wife and five of his 15 children were already buried. In 2011, an anthropological analysis confirmed that one of the skulls belonged to the oldest individuals among those found in Morgagni's tomb. A genetic analysis proved a kinship between this skull and the fragments of young individuals (one male and two females), supporting the hypothesis that they were Morgagni and his children...
March 14, 2018: Anthropologischer Anzeiger; Bericht über die Biologisch-anthropologische Literatur
Siu Hong Cheung, Wai Yin Wilson Kwan, Kwan Pok Tsui, Tam Lin Chow
PURPOSE: Benign parotid tumors are adequately treated with partial parotidectomy, which is often performed under general anesthesia (GA). We have reported our preliminary results on the feasibility to perform parotidectomy under local anesthesia (LA). We hereby present our accumulated experience of partial parotidectomy under LA to further consolidate its feasibility, efficacy and safety in a larger series. MATERIALS AND METHODS: Case series review was carried out using our own center patients' database...
March 2, 2018: American Journal of Otolaryngology
Yang Zhao, Hui Guo, Ying Zhao, Bingyin Shi
Ectopic adrenal adenoma causing chronic Cushing's syndrome (CS) is a rare phenomenon. Diagnosis is usually made years after disease onset because of the insidious nature of the ectopic adrenal gland and because it overlaps with common symptoms, such as overweight and hypertension, in the general population (Kreitschmann-Andermahr et al., 2015). Here, we report the case of a 46-year-old male with a 15-year history of severe hypertension, facial plethora, and centripetal obesity. During treatment for herpes zoster, the patient presented with severe hypokalemia and flaccid paralysis, characteristic changes associated with CS...
March 7, 2018: Annales D'endocrinologie
Nobuo Yamashiro, Takamura Nagasaka, Naoki Ooishi, Mai Tsuchiya, Ryusuke Takaki, Fumikazu Kobayashi, Kazumasa Shindo, Yoshihisa Takiyama
We report here the clinical presentation and subsequent autopsy of a 90-year-old man who developed small papules with pain and swelling in his right ear. On admission, he exhibited right facial nerve paralysis, neck stiffness and Kernig's sign. The cell count was elevated and the varicella-zoster virus-PCR was positive in the CSF. Brain magnetic resonance imaging showed hyperintense lesions in the left pons and left temporal lobe, in FLAIR images. We diagnosed the patient with Ramsay Hunt syndrome and meningoencephalitis due to varicella-zoster virus...
March 2018: Brain and Nerve, Shinkei Kenkyū No Shinpo
Max Shutran, David Mosbach, Zachary Tataryn, Knarik Arkun, Julian K Wu
BACKGROUND AND IMPORTANCE: Malignant peripheral nerve sheath tumors (MPNST) are relatively rare tumors of peripheral nerves that are notable for their locally aggressive nature, ability to metastasize, poor prognosis, and association with Neurofibromatosis type I. We present the case of a patient with a trigeminal nerve MPNST who developed an unusual metastasis to the corpus callosum, in the absence of any other central nervous system or systemic metastatic disease. We review the pathology and presentation of MPNST...
March 5, 2018: Neurosurgery
Nima Khavanin, Edward H Davidson, Diana Y Lee, Patrick Byrne, Amir H Dorafshar
Concomitant temporomandibular joint (TMJ) transplantation is an obvious advancement in the reconstructive armamentarium for face transplantation in scenarios involving TMJ ankylosis. This study investigates the fidelity of mandibular morphology and explores the feasibility of bilateral mandibular condyle transfer in facial vascularized composite allotransplantation. Geometric analysis was performed on 100 skeletally mature maxillofacial computed tomography scans. Exclusion criteria included mandibular trauma and dentoalveolar disease...
March 1, 2018: Journal of Craniofacial Surgery
Y Nilipour, S Nafissi, A E Tjust, G Ravenscroft, H Hossein-Nejad, R Taylor, V Varasteh, F Pedrosa Domellöf, M Zangi, S H Tonekaboni, M Olivé, K Kiiski, L Sagath, Davis, N Laing, H Tajsharghi
BACKGROUND: Nemaline myopathy has been associated with mutations in twelve genes to date. However, for some patients diagnosed with nemaline myopathy, definitive mutations are not identified in the known genes, suggesting there are other genes involved. This study describes compound heterozygosity for rare variants in RYR3 in one such patient. RESULTS: Clinical examination of the patient at 22 years of age revealed a long-narrow face, high arched palate and bilateral facial weakness...
March 2, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Gil Graziani, Sigal Tal, Adi Adelman, Chen Kugel, Tali Bdolah-Abram, Alon Krispin
INTRODUCTION/BACKGROUND: Post-mortem CT (PMCT) is becoming an essential tool available to forensic pathologists worldwide, but its validity with respect to evidence for legal purposes still requires more comprehensive large-scale studies, comparing PMCT to autopsy. This article compares PMCT and autopsy findings of the head, neck, and spine during a period of five years. MATERIALS AND METHODS: The study included 203 cases for which both autopsy and PMCT were performed...
February 26, 2018: Journal of Forensic and Legal Medicine
Pinar Eser Ocak, Ihsan Dogan, Umut Ocak, Cem Dinc, Mustafa K Başkaya
OBJECTIVE Cystic vestibular schwannomas (CVSs) are a subgroup of vestibular schwannomas (VSs) that are reported to be associated with unpredictable clinical behavior and unfavorable postoperative outcomes. The authors aimed to review their experience with microsurgical treatment of CVSs in terms of extent of resection and postoperative facial nerve (FN) function and compare these outcomes with those of their solid counterparts. METHODS Two hundred-eleven VS patients were treated surgically between 2006 and 2017...
March 2018: Neurosurgical Focus
Luciano Mastronardi, Guglielmo Cacciotti, Raffaele Roperto
BACKGROUND: To describe the surgical management and postoperative course of two patients presenting with facial nerve (FN) paralysis as one of the presenting symptoms of small intracanalicular vestibular schwannomas (VS). METHODS: Among 153 patients operated for VS since September 2010 to August 2017, two adult female patients presented with rapidly progressive hearing decrease, vestibular symptoms, and FN paralysis (House-Brackmann grades III and IV, respectively)...
February 26, 2018: Acta Neurochirurgica
J Chauvel-Picard, A Pierrefeu, O Harou, P Breton, N Sigaux
INTRODUCTION: Malignant chondroid syringomas, also known as cutaneous malignant mixed tumors, are rare neoplasms that most frequently occur on the torso or extremities of women. Here we present an illustrated case of a facial malignant chondroid syringoma. MATERIALS AND METHODS: A 32-year-old female patient with no notable medical history presented with an approximately 1cm-wide, painless, palpably-mobile subcutaneous nodule, suggestive of a sebaceous cyst, just above the middle third of the right eyebrow...
February 22, 2018: Journal of Stomatology, Oral and Maxillofacial Surgery
Hannah Weinberg-Wolf, Nicholas A Fagan, George M Anderson, Marios Tringides, Olga Dal Monte, Steve W C Chang
Psychiatric disorders, particularly depression and anxiety, are often associated with impaired serotonergic function. However, serotonergic interventions yield inconsistent effects on behavioral impairments. To better understand serotonin's role in these pathologies, we investigated the role of serotonin in a behavior frequently impaired in depression and anxiety, attention. In this study, we used a quantitative, repeated, within-subject, design to test how L-5-hydroxytryptophan (5-HTP), the immediate serotonin precursor, modulates central serotoninergic function and attention in macaques...
January 30, 2018: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
Bojian Li, Sun Chen, Kun Sun, Rang Xu, Yurong Wu
Holt-Oram syndrome (HOS) is an autosomal dominant disorder, which is characterized by deformities of upper limbs and congenital heart defects. Alterations of TBX5 gene have been identified to be the leading cause of HOS, while some cases could not be explained by TBX5 mutations. In our study, we preliminarily diagnosed a newborn baby, who had Tetralogy of Fallot, thumb agenesis, facial dysplasia, and right ear canal malformation, as HOS. Chromosome microarray analyses showed no pathological deletions or replications of chromosome segments; whole exome sequencing screened out six candidate genes that were involved in cardiac diseases or syndromes among which SALL4 has been reported as HOS related gene...
February 20, 2018: DNA and Cell Biology
Osama Hussein, Khaled Abdel Wahab, Omar Hamdy, Mohammad Arafa, Emad-Eldeen Hamed, Shady Awny, Sameh Roshdy, Adel Denewer, Mahmoud Mosbah
Aim: Pleomorphic adenoma is the most common benign tumor of the parotid gland and is classically treated with superficial or total parotidectomy. Less radical surgeries have been proposed to minimize the risk of facial nerve injury. The oncological safety of these procedures remains controversial. We conducted this study to evaluate the safety of superficial hemi-lobectomy (quadrantectomy). Patients and methods: Retrospective analysis was conducted on the paraffin sections of archived superficial parotidectomy specimens from 11 male and 6 female patients (median age 33 years)...
2018: Frontiers in Surgery
Ma Kai, Li Yongjie
BACKGROUND: It is difficult to differentiate patients with cerebellopontine angle (CPA) cholesteatoma and patients with primary trigeminal neuralgia(TN) just according to early symptoms. We aimed to explore the clinical characteristics, early diagnosis and microneurosurgical techniques for CPA cholesteatoma presented as trigeminal neuralgia. METHODS: The data of 26 patients who complained trigeminal neuralgia with cerebellopontine angle cholesteatoma between January 2009 and December 2015 were collected and studied retrospectively, they were diagnosed by MRI preoperatively and confirmed by pathology postoperatively...
February 15, 2018: World Neurosurgery
Sana Ben Slama, Leila Mebazaa, Dhouha Bacha, Saadia Bouraoui, Sabeh Mzabi-Regaya, Ahlem Lahmar
BACKGROUND: The fetoplacental examination is actually very important and sometimes necessary to confirm or correct prenatal diagnosis. AIM: to deduce a list of indications of fetoplacental examination and to determine the type and frequency of malformations found. METHODS: a retrospective study including 398 consecutive fetoplacental examinations, including abortions, stillbirths and children died perinatally. The cases were referred in the department of pathology of the M...
March 2017: La Tunisie Médicale
R Zhang, X H He, H Y Lin, X H Yang
Objective: To investigate the clinical manifestations and genetic features of a child with Bainbridge-Ropers syndrome caused by ASXL3 gene variation and review the literature. Methods: Clinical data and genetic features were collected and analyzed from a child with Bainbridge-Ropers syndrome who was diagnosed in Bao'an Maternity and Child Health Hospital in November 2016. "ASXL3" and "Bainbridge-Ropers" were used as key words to search at China National Knowledge Infrastructure, Wangfang Data Knowledge Service Platform, PubMed and Human Gene Mutation Database up to June 2017...
February 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Nozomu Uematsu, Masahiko Sumi, Hiroko Kaiume, Wataru Takeda, Takehiko Kirihara, Toshimitsu Ueki, Yuki Hiroshima, Mayumi Ueno, Naoaki Ichikawa, Masahide Watanabe, Hikaru Kobayashi
A 59-year-old man who complained of abdominal pain was referred to our hospital. Computed tomography (CT) revealed mesenteric lymph node swelling and intestinal perforation. Histopathological study of the resected ileum and lymph node demonstrated diffuse proliferation of medium-sized atypical lymphocytes. Immunohistochemistry results were positive for cluster of differentiation (CD) 3, CD8, and CD56 cells, negative for CD5 and CD4 cells, and negative for Epstein-Barr virus-encoded RNA-fluorescent in situ hybridization (EBER-FISH)...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
Ellen Kraig, Leslie A Linehan, Hanyu Liang, Terry Q Romo, Qianqian Liu, Yubo Wu, Adriana D Benavides, Tyler J Curiel, Martin A Javors, Nicolas Musi, Laura Chiodo, Wouter Koek, Jonathan A L Gelfond, Dean L Kellogg
Inhibition of the mechanistic target of rapamycin (mTOR) pathway by rapamycin (RAPA), an FDA-approved immunosuppressive drug used as a clinical therapy to prevent solid organ allograft rejection, enhances longevity in mice. Importantly, RAPA was efficacious even when initiated in relatively old animals, suggesting that mTOR inhibition could potentially slow the progression of aging-associated pathologies in older humans (Harrison et al., 2009; Miller et al., 2011). However, the safety and tolerability of RAPA in older human subjects have not yet been demonstrated...
February 3, 2018: Experimental Gerontology
Robert S English
Androgenic alopecia, also known as pattern hair loss, is a chronic progressive condition that affects 80% of men and 50% of women throughout a lifetime. But despite its prevalence and extensive study, a coherent pathology model describing androgenic alopecia's precursors, biological step-processes, and physiological responses does not yet exist. While consensus is that androgenic alopecia is genetic and androgen-mediated by dihydrotestosterone, questions remain regarding dihydrotestosterone's exact role in androgenic alopecia onset...
February 2018: Medical Hypotheses
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