Ophthalmic features in hereditary sensory neuropathy type 1A: a case report and systematic review

Author(s):  
Virang Kumar ◽  
Vatsal Lal ◽  
Amy Harper ◽  
Rachel Li ◽  
Natario L. Couser
2016 ◽  
Vol 6 (1) ◽  
pp. 9
Author(s):  
Ebru Saribas ◽  
Filiz Acun Kaya ◽  
Arzum Guler Dogru ◽  
Mehmet Ufuk Aluclu

Aim: Hereditary sensory and autonomic neuropathy (HSAN) is a rare syndrome of unknown etiology that develops in early childhood. Five different types of HSAN have been described. This syndrome is characterized by the absence of pain and self-mutilation. Patients start to traumatize themselves at as young as 2–3 years of age. Subsequently, ulcers and stress fractures develop on their fingers and toes. Oral findings in HSAN patients include oral lesions after repetitive trauma, oral mucosa and tongue scars, self-dental extractions, dental infections, and premature tooth loss. Methodology: This case report presents the oral findings of a 4-year-old HSAN patient with premature tooth loss who visited Dicle University, Faculty of Dentistry, Department of Periodontology. The extraoral examination showed wounds around the nose and bruises and burns on the forearms and legs. The intraoral inspection showed traumatic lesions on the tongue, early loss of all of the lower jaw primary dentition, but the presence of upper jaw teeth. Results: During follow-up, the eruption of the permanent right lower incisors and presence of mobility were observed. A partial child prosthesis for the lower jaw and protective plaque restoration constructions were planned. The patient is being followed regularly. Conclusions: It is necessary to conduct regular checkups and to ensure good communication between the dentist and family in terms of ensuring oral hygiene and preventing the development of undesired complications.  How to cite this article: Saribas E, Acun Kaya F, Dogru AM, Aluclu MU.  Hereditary Sensory Neuropathy: A Case Report. Int Dent Res 2016;6:9-12. Linguistic Revision: The English in this manuscript has been checked by at least two professional editors, both native speakers of English.


1997 ◽  
Vol 79 (8) ◽  
pp. 1232-4 ◽  
Author(s):  
CHRISTIAN KRETTEK ◽  
SYLVIA GLÜER ◽  
HAJO THERMANN ◽  
DAVID A. LEWIS ◽  
SUSANNE SCHWEITZER ◽  
...  

1987 ◽  
Vol 36 (2) ◽  
pp. 424-427
Author(s):  
Takashi Ikeda ◽  
Muneyoshi Kawaguchi ◽  
Tetsuo Nakano ◽  
Makoto Kai ◽  
Jungi Ide ◽  
...  

VASA ◽  
2020 ◽  
pp. 1-6 ◽  
Author(s):  
Marina Di Pilla ◽  
Stefano Barco ◽  
Clara Sacco ◽  
Giovanni Barosi ◽  
Corrado Lodigiani

Summary: A 49-year-old man was diagnosed with pre-fibrotic myelofibrosis after acute left lower-limb ischemia requiring amputation and portal vein thrombosis. After surgery he developed heparin-induced thrombocytopenia (HIT) with venous thromboembolism, successfully treated with argatroban followed by dabigatran. Our systematic review of the literature supports the use of dabigatran for suspected HIT.


Lupus ◽  
2020 ◽  
pp. 096120332096570
Author(s):  
Juliana P Ocanha-Xavier ◽  
Camila O Cola-Senra ◽  
Jose Candido C Xavier-Junior

Reticular erythematous mucinosis (REM) was first described 50 years ago, but only around 100 case reports in English have been published. Its relation with other inflammatory skin disorders is still being debated. We report a case of REM, including the clinical and histopathological findings. Also, a systematic review of 94 English-language reported cases is provided. The described criteria for clinical and histopathological diagnosis are highlighted in order to REM can be confidently diagnosed.


2020 ◽  
Vol 30 (Supplement_5) ◽  
Author(s):  
B Dorelli ◽  
R A Cocchiara ◽  
G Gholamalishahi ◽  
W Longo ◽  
E Musumeci ◽  
...  

Abstract Background Several studies show positive effects of new non-medical therapies known as complementary and alternative medicines, such as the discipline of tai chi. As healthcare professions are among the most vulnerable for work-related stress, this systematic review aims to investigate the relationship between tai chi practice and wellness of healthcare workers. Methods Cinahl, Scopus, Web of Science and PubMed were searched in September 2019. Full-text articles, written in English and published after 1995, were recruited if they focused on positive effects of tai chi on the psychophysical wellbeing of healthcare workers, in comparison with alternative techniques (such as yoga or traditional care). Outcomes were reduced work-related stress, better physical and psychological function, improvement in attention and/or productivity; no restrictions about study design were applied. Quality assessment was performed with the Newcastle-Ottawa Scale on cohort/cross-sectional studies, the Jadad scale for randomized clinical trial, AMSTAR for systematic reviews and CASE REPORT scale for case study. Results 6/111 papers were included: 3 clinical trials, 1 observational study, 1 systematic review and 1 case report. The methodological quality was of medium level. 2/3 trials found a significant increase in individuals' wellbeing and improvements in stress levels and nursing staff’s motivation in their work. In the observational study tai chi was a prevalent mind-body practice to reduce stress. The systematic review suggested that tai chi could be a useful tool to reduce stress-related chronic pain. In case report the effectiveness was observed in medical students. Conclusions This study highlights the full potential and possible benefits derived from tai chi but its application to improve health professionals' wellbeing is still limited, and the absence of a standardized intervention impacts on the methodological quality and reduces the robustness of the retrieved evidence. Key messages Tai chi can improve many pathological conditions and reduce work-related stress. Further research is needed to gain robust evidence of its efficacy for wellbeing of healthcare workers.


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