scholarly journals Dental considerations and management in Noonan Syndrome: A case report with review of literature

2021 ◽  
Vol 2 (2) ◽  
pp. 55-62
Author(s):  
Nipun Jain ◽  
Priyanka Venugopal ◽  
Arun Mamachan Xavier ◽  
Parvathy Kumaran ◽  
Balagopal R Varma ◽  
...  

Noonan syndrome is a genetic disorder of autosomal dominance with an estimated prevalence of 1:1000 – 1:2500 live birth. The typical features include short stature, cardiovascular abnormalities and characteristics facial deformity. Dental features reported so far include malocclusion, dental caries, giant cell and cystic lesion. Multidisciplinary treatment plays a key role in the overall quality of life of the patient. This case report describes a 6-year-old boy with Noonan syndrome.

2016 ◽  
Vol 6 (3) ◽  
pp. 133-141
Author(s):  
Melissa Andreia de Moraes Silva ◽  
Camila Bueno da Silva ◽  
Isabella João Milan ◽  
Seleno Glauber de Jesus-Silva ◽  
Rodolfo Souza Cardoso

Introdução: O Linfedema Primário (LP) é caracterizado por disfunção do sistema linfático de etiologia idiopática. Este pode ser dividido em congênito, precoce e tardio, sendo o tipo congênito o mais raro. O diagnóstico desta patologia é predominantemente clínico,  podendo  ser  solicitado  linfocintilografia quando  há  dúvida  diagnóstica. O diagnóstico  precoce  está  diretamente  relacionado  com  o  melhor  prognóstico  do paciente, postergando limitações físicas e psico­sociais. O tratamento do LP é clínico e multiprofissional. Relato do Caso: Relatou­se caso raro de uma paciente de 78 anos de idade, sexo feminino, portadora de Linfedema Primário em membro superior esquerdo desde o nascimento, o qual foi investigado durante a infância, porém com resultados inconclusivos. Conclusão: Embora seja pequena a quantidade de trabalhos sobre o tema, este relato confirma que o diagnóstico precoce é fundamental e que o tratamento igualmente precoce e multiprofissional melhora a qualidade de vida dos pacientes.Palavras­chave:  Linfedema, Sistema Linfático, Extremidade Superior, Idoso, CintilografiaABSTRACTIntroduction: Primary lymphedema (PL) is characterized by dysfunction of the lymphatic system of idiopathic etiology. It can be divided into congenital, early and late,  with  the congenital type being the rarest. The diagnosis of this pathology is predominantly clinical, and a lymphoscintilography may be requested when the diagnostic is uncertain. Early diagnosis is directly related to better patient prognosis, delaying physical and psychosocial limitations. Treatment of PL is clinical and multiprofessional. Case Report: The aim of this paper is to describe a rare case of a 78­ year­old female with primary lymphedema in the left arm since her birth, which was investigated during childhood, but with inconclusive results. Conclusion: Although there is small  amount of work on the topic, this report confirms that early diagnosis is crucial and also that  early and multidisciplinary treatment improves the quality of life of patients.Keywords: Lymphedema, Lymphatic System, Upper Extremity, Elderly, Radionuclide Imaging  


2022 ◽  
Vol 41 ◽  
Author(s):  
Kekeli Kodjo Adanu ◽  
Bernard Toboh ◽  
Evans Akpakli ◽  
Mary Monney ◽  
Isaac Asiedu ◽  
...  

2020 ◽  
Vol 29 (4) ◽  
pp. 685-690
Author(s):  
C. S. Vanaja ◽  
Miriam Soni Abigail

Purpose Misophonia is a sound tolerance disorder condition in certain sounds that trigger intense emotional or physiological responses. While some persons may experience misophonia, a few patients suffer from misophonia. However, there is a dearth of literature on audiological assessment and management of persons with misophonia. The purpose of this report is to discuss the assessment of misophonia and highlight the management option that helped a patient with misophonia. Method A case study of a 26-year-old woman with the complaint of decreased tolerance to specific sounds affecting quality of life is reported. Audiological assessment differentiated misophonia from hyperacusis. Management included retraining counseling as well as desensitization and habituation therapy based on the principles described by P. J. Jastreboff and Jastreboff (2014). A misophonia questionnaire was administered at regular intervals to monitor the effectiveness of therapy. Results A detailed case history and audiological evaluations including pure-tone audiogram and Johnson Hyperacusis Index revealed the presence of misophonia. The patient benefitted from intervention, and the scores of the misophonia questionnaire indicated a decrease in the severity of the problem. Conclusions It is important to differentially diagnose misophonia and hyperacusis in persons with sound tolerance disorders. Retraining counseling as well as desensitization and habituation therapy can help patients who suffer from misophonia.


Author(s):  
Ganapathi Rao ◽  
Vijay Kumar ◽  
Ashok Naikar ◽  
Chandrakanth Halli

A standard Ksharasutra is practiced in treatment of Bhagandara (fistula-in-ano) with high success rate and minimum recurrence rate. In previous research it was noted that Pittaja Prakruti patients sometime might cause more perianal irritation due to Apamarga Ksharasutra. So in this study Palasha Ksharasutra prepared in Arkaksheera was prepared by Palasha Kshara (Ash of Butea monosperma), Arka Ksheera (Calotropis gigantic) and turmeric powder (Curcuma longa). This Ksharasutra was prepared as per the API guidelines and preserved in air tight tube. A patient of Pittaja predominant Prakruti with fistula-in ano having two external opening at 6 and 7 O’ clock position of anus was treated with application of Ksharasutra. The Palasha Ksharasutra prepared in Arkaksheera was applied in these two opening under spinal anesthesia. Then Ksharasutra was changed by weekly interval under local xylocaine jelly 2%. The length of thread was measured weekly and noted in the case to assess the unit cutting time (UCT). The unit cutting time (UCT) of first thread was 7.5 days/cm and second one had UCT 6.8 days/cm. During the treatment patient was doing his job regularly without hampering the quality of life. After 2 months patient was free from all symptoms of fistula with normal scar and without any complications. This case study demonstrated the utility of Palasha Ksharasutra prepared in Arkaksheera in multiple fistula-in ano.


2013 ◽  
Vol 2013 ◽  
pp. 1-2 ◽  
Author(s):  
P. Lucas Ramirez ◽  
Kelly Barnhill ◽  
Alan Gutierrez ◽  
Claire Schutte ◽  
Laura Hewitson

This case report describes the benefits of antibiotic and antifungal therapy on behavior in a child with autism undergoing treatment for encopresis. Over the course of treatment, the child exhibited a reduction in aberrant behaviors, increased gastrointestinal function, and improved quality of life.


1992 ◽  
Vol 29 (6) ◽  
pp. 578-584 ◽  
Author(s):  
Thomas Pruzinsky

This paper discusses the social and psychological experiences of patients with the most severe forms of craniofacial deformity. The paper concludes that individuals with the most severe forms of craniofacial deformities are at risk for experiencing social and psychological stress and for having their quality of life negatively impacted by the experience of having a facial deformity. Much of the stress experienced by these individuals is the result of the negative social response to their facial deformity. It is emphasized that many patients will not develop psychopathology, because of intervening personality and family factors that may ameliorate these negative social stressors. The excellent progress made in assessing, preventing, and treating the negative psychosocial impact of facial deformity is noted. Finally, in attempting to understand the impact of facial deformity on quality of life, emphasis is placed on the subjective evaluation of these factors by each individual patient and family.


Children ◽  
2021 ◽  
Vol 8 (12) ◽  
pp. 1122
Author(s):  
Sarah Achterrath ◽  
Teresa Kruse ◽  
Julia Neuschulz ◽  
Isabelle Graf ◽  
Joachim Zöller ◽  
...  

The therapy of patients with Crouzon syndrome involves a multidisciplinary team. In most cases, this therapy is extensive, time-consuming, and exhausting for the patient. This case report illustrates a temporally coordinated therapy plan that succeeds in reducing the burden of care. Showing typical extraoral characteristics of Crouzon syndrome, the patient had a frontal and left-sided crossbite, and impaction of the maxillary canines. Multidisciplinary therapy included the extraction of multiple teeth, midface distraction at Le Fort III level, and alignment of the impacted teeth. Before starting, during, and after completion of the treatment, the patient’s oral health-related quality of life was assessed using COHIP-19. The combination of different treatment steps significantly reduced the duration of therapy. The therapy improved not only the patient’s oro- and craniofacial function, but also the patient’s facial appearance in a short treatment period. The patient’s quality of life improved considerably during this time. In the treatment of severe craniofacial anomalies, the highest priority should be given to keeping the burden of care low. All measures should encourage young patients’ appropriate psychosocial development despite extensive therapies, ensuring at the same time medically satisfactory treatment results.


Author(s):  
Gita Rani ◽  
Amarjeet Gambhir

ABSTRACT Successful prosthetic reconstruction of hemimaxillectomy defects is a challenging procedure that requires multidisciplinary expertize to achieve acceptable function, speech and esthetics. Rehabilitation of an acquired maxillary defect improves the quality of life for the patient as close to normal as possible. Obturation of the defect depends on its volume and position of remaining hard and soft tissues, to be utilized for retention, stability and support for the prosthesis. The prosthesis should be simple to handle, easy to maintain, biocompatible, light in weight and convenient for future adjustments. This case report describes a clinical case of subtotal maxillectomy, which was successfully rehabilitated with a hollow bulb obturator. How to cite this article Rani G, Gambhir A. Prosthodontic Rehabilitation of a Patient with Subtotal Maxillectomy using a Hollow Bulb Obturator. Int J Prosthodont Restor Dent 2012; 2(1):24-28.


Sign in / Sign up

Export Citation Format

Share Document