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Yu Sun, Guorui Hu, Huili Liu, Xia Zhang, Zhuo Huang, Hui Yan, Lili Wang, Yanjie Fan, Xuefan Gu, Yongguo Yu
KMT2A mutations cause Wiedemann-Steiner syndrome (WDSTS), which is characterized by hypertrichosis cubiti, short stature, and distinct facial features in general. Here, we report two Chinese boys with novel nonsense KMT2A mutations. Most of their phenotypes are concordant with WDSTS. They, however, lack the key WDSTS feature-hypertrichosis cubiti. Additionally, their transverse palmar creases are absent. We further summarized the genotypes and phenotypes of the KMT2A mutation carriers. The consensus phenotypes include postnatal growth retardation, developmental delay, short stature, and intellectual disability...
October 19, 2016: American Journal of Medical Genetics. Part A
Zhi Dou, Xueyi Zhang, Liqiang Yang, Wanqian Wang, Na Li, Zhicheng Liu, Jiaxiang Ni
We used resting-state fMRI to investigate regional homogeneity (ReHo) changes in patients with TN before and after PRT procedure, and to speculate about its possible mechanisms.Thirty-one TN patients underwent the PRT procedure had MRI scans just before and 6 months after surgery. The anatomical and resting-state functional images were all acquired. Patients' visual analog scales (VAS) scores, facial numbness, and disease duration were also recorded. Voxel-wise ReHo analysis was performed to detect the altered regional clusters after surgery...
October 2016: Medicine (Baltimore)
Aswini Sivasankaran, Kanakavalli Murthy, Venkata P Oruganti, Anuradha Deenadayalu, Chandra R Samuel, Lakshmi R Kandukuri
Partial trisomy of the short arm of chromosome 6 is a rare and clinically distinct syndrome. The breakpoints have been found to be variable ranging from bands 6p11 to 6p25. This study reports partial trisomy for 6p22.3→pter in a 2-year-old boy referred with a complaint of developmental delay and facial dysmorphism. Conventional cytogenetic analysis showed the presence of an abnormal chromosome 5 resulting from an unbalanced translocation in the proband. Array comparative genomic hybridization revealed trisomy of distal 6p which was confirmed by fluorescence in situ hybridization using subtelomeric probes for chromosomes 5 and 6...
October 18, 2016: Clinical Dysmorphology
C Mantegazza, F Angiero, G V Zuccotti
Alterations of the oral cavity are common in children: 22% of children aged less than 4 years and 44% of those aged more than 12 develop dental erosion, 9-95% of children in Europe and in North America develop gingivitis, with adolescents showing a prevalence of more than 60% [Italian Ministry of Health, Guidelines 2013]. Alterations within the oral cavity can be the first sign of systemic diseases and may thus allow for an early diagnosis and treatment. In particular, being the oral cavity a part of the gastrointestinal system, oral alterations can be an expression of a gastrointestinal disease...
September 2016: European Journal of Paediatric Dentistry: Official Journal of European Academy of Paediatric Dentistry
Gyanendu Kumar, Amritesh Kumar, Ram Pratap Bundela, Rupesh Pokharna, Prachis Ashdhir, Sandeep Nijhawan
Primary hypothyroidism is a common clinical condition in which serous effusions are rare. Isolated cases have been reported in literature about presence of ascites, pleural effusion, pericardial effusion or combination of any two. But combination of all three is extremely rare. We hereby report a case of multiple body cavity effusions (ascites, pleural and pericardial effusions) and tissue edema (pedal and facial) in a hypothyroid male. He responded well to thyroid hormone replacement therapy.
July 2016: Journal of the Association of Physicians of India
Ashley Galati, Alyson Hock, Ramesh S Bhatt
Configural information (spacing between features) contributes to face-processing expertise in adulthood. We examined whether infants can be "trained" to process this information. In Experiment 1, 3.5-month-olds failed to discriminate changes in the spacing between facial features. However, in Experiments 2 and 3, infants processed the same information after being primed with faces in which the spacing was repeatedly altered. Experiment 4 found that priming was not effective with inverted faces or with faces depicting changes in features but not relations among features, indicating that the priming exhibited in Experiments 2 and 3 was specific to upright faces depicting spacing changes...
November 2016: Developmental Psychobiology
Veronica Bertini, Alessandro Orsini, Roberta Mazza, Vineela Mandava, Giuseppe Saggese, Alessia Azzara', Alice Bonuccelli, Angelo Valetto
We report on a patient with a 6.5 Mb interstitial de novo deletion in 3q24q25.2, characterized by array CGH. The patient is a 4-year and 2-month-old girl, who presented to us with mild developmental delay, absence of language, facial dysmorphism, hirsutism, strabismus, and Dandy-Walker Malformation. The main clinical signs typical of WS (Wisconsin syndrome) are evident in the patient. The molecular mapping of WS in 3q23q25 allowed geneticists to define the syndrome more accurately. Comparing the present patient's phenotype with that of cases with a molecular characterization so far reported, it was possible to narrow the critical region for WS to an interval of 750 Kb, where two genes (MBNL1 and TMEM14E) are harbored...
October 18, 2016: American Journal of Medical Genetics. Part A
Shahida Moosa, Helena Böhrer-Rabel, Janine Altmüller, Filippo Beleggia, Peter Nürnberg, Yun Li, Gökhan Yigit, Bernd Wollnik
Heterozygous germline mutations in MTOR have been shown to underlie Smith-Kingsmore syndrome, a rare autosomal dominant syndrome characterized by macrocephaly, developmental delay, and dysmorphic facial features. Recently, two unrelated families with the MTOR mutation, c.5395G>A p.(Glu1799Lys), were reported. Here, we describe siblings from a non-consanguineous German family in whom we identified the same heterozygous missense mutation in MTOR. Remarkably, in all reported families with Smith-Kingsmore syndrome and the MTOR c...
October 18, 2016: American Journal of Medical Genetics. Part A
Ashraf Raslan, Gerd Fabian Volk, Martin Möller, Vincent Stark, Nikolas Eckhardt, Orlando Guntinas-Lichius
OBJECTIVES/HYPOTHESIS: To examine by intraoperative electric stimulation which peripheral facial nerve (FN) branches are functionally connected to which facial muscle functions. STUDY DESIGN: Single-center prospective clinical study. METHODS: Seven patients whose peripheral FN branching was exposed during parotidectomy under FN monitoring received a systematic electrostimulation of each branch starting with 0.1 mA and stepwise increase to 2 mA with a frequency of 3 Hz...
October 18, 2016: Laryngoscope
Justin K Mogilski, Lisa L M Welling
Sexual dimorphism, symmetry, and coloration in human faces putatively signal information relevant to mate selection and reproduction. Although the independent contributions of these characteristics to judgments of attractiveness are well established, relatively few studies have examined whether individuals prioritize certain features over others. Here, participants (N = 542, 315 female) ranked six sets of facial photographs (3 male, 3 female) by their preference for starting long- and short-term romantic relationships with each person depicted...
October 17, 2016: Human Nature: An Interdisciplinary Biosocial Perspective
Christian Güldner, Isabell Diogo, Eva Bernd, Stephanie Dräger, Magis Mandapathil, Afshin Teymoortash, Hesham Negm, Thomas Wilhelm
Cone beam computed tomography (CBCT, syn. digital volume tomography = DVT) was introduced into ENT imaging more than 10 years ago. The main focus was on imaging of the paranasal sinuses and traumatology of the mid face. In recent years, it has also been used in imaging of chronic ear diseases (especially in visualizing middle and inner ear implants), but an exact description of the advantages and limitations of visualizing precise anatomy in a relevant number of patients is still missing. The data sets of CBCT imaging of the middle and inner ear of 204 patients were analyzed regarding the visualization of 18 different anatomic structures...
October 17, 2016: European Archives of Oto-rhino-laryngology
Clayton P Mosher, Prisca E Zimmerman, Andrew J Fuglevand, Katalin M Gothard
The majority of neurophysiological studies that have explored the role of the primate amygdala in the evaluation of social signals have relied on visual stimuli such as images of facial expressions. Vision, however, is not the only sensory modality that carries social signals. Both humans and nonhuman primates exchange emotionally meaningful social signals through touch. Indeed, social grooming in nonhuman primates and caressing touch in humans is critical for building lasting and reassuring social bonds. To determine the role of the amygdala in processing touch, we recorded the responses of single neurons in the macaque amygdala while we applied tactile stimuli to the face...
September 2016: ENeuro
Prasan K Panda, Siddharth Jain, Rita Sood, Rajni Yadav, Naval K Vikram
Histoplasmosis is caused by a dimorphic fungus Histoplasma capsulatum in endemic areas, mainly America, Africa, and Asia. In India, it is being reported from most states; however, it is endemic along the Ganges belt. We report a case of an apparently immunocompetent male who presented with 3-month history of fever, cough, and weight loss with recent onset odynophagia and had hepatosplenomegaly and mucocutaneous lesions over the face. The differential diagnosis of leishmaniasis, tuberculosis, leprosy, fungal infection, lymphoproliferative malignancy, and other granulomatous disorders was considered, but he succumbed to his illness...
2016: Case Reports in Infectious Diseases
Venkatraman Bhat, Jenna Devere, Athira Ramakrishanan, Moni A Kuriakose
A case of malignant cutaneous lesion of the face diagnosed initially as sebaceous carcinoma, subsequently proven to be squamous cell carcinoma is presented. Patient was initially evaluated at an outside institution by computed tomography, which indicated extension of lesion to the maxillary sinus. Patient underwent local resection. Further imaging by magnetic resonance imaging was done for recurrent tumour. Examination revealed extensive, large volume, perineural extension of the disease via infraorbital nerve to the cavernous sinus...
September 2016: Journal of Maxillofacial and Oral Surgery
Saroj Prasad Deo
INTRODUCTION: Third molar surgery (TMS) became a routine, safe office procedure with generally predictable outcomes and relative low cost. It affects quality of life (QOL) of patients by causing considerable pain, swelling and trismus; by changing what people eat, their speech in the first few days after surgery. The purpose of the present study was to improve QOL of patient after lower TMS by injecting single dose 8 mg submucosal dexamethasone. MATERIALS AND METHODS: Forty healthy adult subjects of either gender underwent surgical removal of the lower impacted third molar under local anaesthesia and after being randomly assigned to receive either 8 mg dexamethasone submucosal injection or normal saline injection in proximity to surgical site...
September 2016: Journal of Maxillofacial and Oral Surgery
Ritesh Kumar, Syed Saeed Ahmed, Gulam Sarwar Hashmi, Md Kalim Ansari, Sajjad Abdur Rahman
AIM: The present study was planned to investigate the etiology of injuries and to analyze correlation between clinical and radiological findings in cases of craniomaxillofacial trauma. STUDY DESIGN: An 18 months cross-sectional study was done and 325 patients with maxillofacial fractures were analyzed from January 2013 to June 2014 who reported to the department of oral and maxillofacial surgery, Aligarh, Uttar Pradesh. Data was recorded in a preformed case sheet which included: patient's demographic data, cause of injury, type of injury, treatment plan...
September 2016: Journal of Maxillofacial and Oral Surgery
Soung Min Kim, Emmanuel K Amponsah, Hui Young Kim, Ik Jae Kwon, Hoon Myoung, Jong Ho Lee
: Ameloblastoma is the most common benign odontogenic tumor of the jaw, and expansional growth of a huge untreated ameloblastoma can result in disturbances in facial aesthetics and function, such as difficulty with mouth opening, swallowing, chewing, breathing, neurologic deficits, and pathologic fractures. Radical wide resection with safety margins and subsequent reconstruction is generally recommended. A fibular free flap (FFF) is commonly used to reconstruct the mandible in order to adequately restore both aesthetic appearance and function...
September 2016: Ghana Medical Journal
Charles E Anyanechi, Otasowie D Osunde, Birch D Saheeb
OBJECTIVE: To analyze cases of compound, unfavorable and non-comminuted mandibular angle fractures treated by trans-osseous wiring, presenting postoperative complications, in a low resource center. MATERIALS AND METHODS: This was a 13-year retrospective study of 1,324 fractures in 1,317 subjects. The predictor variables were age, gender, aetiology, time lag between injury and treatment, and concomitant mandibular and mid-facial fractures. The outcome variable was the development of complication(s) after treatment...
September 2016: Ghana Medical Journal
Keiko Shimojima, Yumiko Ondo, Mayumi Matsufuji, Nozomi Sano, Hisashi Tsuru, Tatsuki Oyoshi, Nayuta Higa, Hiroshi Tokimura, Kazunori Arita, Toshiyuki Yamamoto
A female patient presented with developmental delay, distinctive facial features, and congenital anomalies, including a heart defect and premature lambdoid synostosis. The patient showed a paternally inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving the mitogen-activated protein kinase kinase 2 gene (MAP2K2), in which mutations cause the cardio-facio-cutaneous (CFC) syndrome. Reports of patients with overlapping 19p13.3 microdeletions of this region describe similar clinical manifestations including distinctive facial features: prominent forehead, horizontal/down-slanting palpebral fissures, long midface, pointed chin/angular jaw, sparse eyebrows, and underdeveloped cheekbones...
October 14, 2016: European Journal of Medical Genetics
J Willis Kiessling, Dean A Hertzler, David E M Drucker, Heather S Spader
BACKGROUND: This case report illustrates the need to evaluate the possibility of multiple arterial sources when presented with a frontal epidural hematoma associated with facial trauma. CASE DESCRIPTION: Our patient presented after being struck in the face by a baseball. Computed tomography (CT) of the brain revealed a large frontal epidural hematoma. Intraoperatively, bleeding from a frontal branch of the middle meningeal artery was encountered and cauterized, and the hematoma was removed...
October 14, 2016: World Neurosurgery
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