Case of oculo-auriculo-vertebral spectrum: rare clinical features

2021 ◽  
Vol 14 (3) ◽  
pp. e234181
Author(s):  
Daisy Khera ◽  
Saurabh Agarwal ◽  
Prawin Kumar ◽  
Kuldeep Singh
Keyword(s):  
Multidisciplinary Approach ◽  
Loud Sound ◽  
The Family ◽  
Bifid Rib ◽  
Depressor Anguli Oris ◽  
Bone Anchored Hearing Aid ◽  
Canal Atresia ◽  
Brain Stem Evoked Response ◽  
Evoked Response Audiometry

A 2-month-old boy presented to us with bilateral microtia, left lower motor neuron facial palsy, micrognathia, hemivertebra, bifid rib, bifid thumb and absent/hypoplastic right-sided depressor anguli oris. He had bilateral external auditory canal atresia, although response to loud sound was present. Brain stem evoked response audiometry (BERA) was advised at 3 months of age. Karyotype was normal. We diagnosed him as a case of oculo-auriculo-vertebral spectrum. Child was discharged on request by the family with the plan for bone-anchored hearing aid after BERA and plan for pinna and ear canal reconstruction at a later age but child did not come for any follow-up visit. On telephonic enquiry, it was found that he is thriving well but has developmental delay including speech delay. We conclude that children presenting with external ear abnormalities should be screened for multiple congenital anomalies so that a multidisciplinary approach to management can be planned.

AAC Supports for Individuals With Rett Syndrome Across the Lifespan

2015 ◽  
Vol 24 (3) ◽  
pp. 74-85
Author(s):  
Sandra M. Grether
Keyword(s):  
Rett Syndrome ◽  
Communication Skills ◽  
Preliminary Analysis ◽  
Multidisciplinary Approach ◽  
Motor Deficits ◽  
Complex Profile ◽  
Communication Behaviors ◽  
The Individual

Individuals with Rett syndrome (RS) present with a complex profile. They benefit from a multidisciplinary approach for diagnosis, treatment, and follow-up. In our clinic, the Communication Matrix © (Rowland, 1990/1996/2004) is used to collect data about the communication skills and modalities used by those with RS across the lifespan. Preliminary analysis of this data supports the expected changes in communication behaviors as the individual with RS ages and motor deficits have a greater impact.

PRIMARY MELANOMA OF THE GALLBLADDER MANIFESTED BY ACUTE CHOLECYSTITIS. DESCRIPTION OF A SINGLE CASE

2018 ◽  
Vol 64 (2) ◽  
pp. 253-255
Author(s):  
Oleg Kit ◽  
Yevgeniy Kolesnikov ◽  
Roman Myagkov ◽  
Leonid Kharin ◽  
Yevgeniya Nepomnyashchaya
Keyword(s):  
Acute Cholecystitis ◽  
Mucous Membrane ◽  
Cutaneous Melanoma ◽  
Multidisciplinary Approach ◽  
Single Case ◽  
Primary Melanoma ◽  
Metastatic Lesions ◽  
Long Term Follow Up

Most of melanomas of the gallbladder are metastatic lesions of cutaneous melanoma. Primary melanomas of the gallbladder are described as single, polypoid, intraluminal masses emanating from the mucous membrane. The most important characteristic is the absence of melanoma damage to the skin. If it is not possible to localize primary melanoma a multidisciplinary approach to diagnostic search comes to the fore. Predicting for primary melanoma of the gallbladder is a difficult task due to the small number of cases and the absence of long-term follow-up for this category of patients.

scholarly journals The Family Psychoeducation Fidelity Scale: Psychometric Properties

2020 ◽  
Vol 47 (6) ◽  
pp. 894-900 ◽  
Author(s):  
I. Joa ◽  
J. O. Johannessen ◽  
K. S. Heiervang ◽  
A. A. Sviland ◽  
H. A. Nordin ◽  
...  
Keyword(s):  
Psychometric Properties ◽  
Internal Consistency ◽  
Interrater Reliability ◽  
Review Process ◽  
Trial Registration ◽  
Family Psychoeducation ◽  
Time Points ◽  
The Family ◽  
Fidelity Scale

Abstract This study examined psychometric properties and feasibility of the Family Psychoeducation (FPE) Fidelity Scale. Fidelity assessors conducted reviews using the FPE fidelity scale four times over 18 months at five sites in Norway. After completing fidelity reviews, assessors rated feasibility of the fidelity review process. The FPE fidelity scale showed excellent interrater reliability (.99), interrater item agreement (88%), and internal consistency (mean = .84 across four time points). By the 18-month follow-up, all five sites increased fidelity and three reached adequate fidelity. Fidelity assessors rated feasibility as excellent. The FPE fidelity scale has good psychometric properties and is feasible for evaluating the implementation of FPE programs. Trial registration ClinicalTrials.gov Identifier: NCT03271242.

scholarly journals A New Medical Record Proposal to the Prognostic Risk Assessment for MRONJ in Oncologic Patients: “Sapienza Head and Neck Unit” Proposal

2021 ◽  
Vol 18 (4) ◽  
pp. 1851
Author(s):  
Edoardo Brauner ◽  
Silvia Mezi ◽  
Alessandro Ciolfi ◽  
Chiara Ciolfi ◽  
Resi Pucci ◽  
...  
Keyword(s):  
Multidisciplinary Approach ◽  
Bone Cancer ◽  
Osteonecrosis Of The Jaw ◽  
Individual Risk ◽  
Medical Report ◽  
Oncologic Patients ◽  
Antiangiogenic Drugs ◽  
Dental Screening ◽  
The Individual

Medication-related osteonecrosis of the jaw (MRONJ) is an adverse event associated with antiresorptive and antiangiogenic drugs. The use of these drugs in the treatment of cancer patients with bone metastasis is necessary and standardized in the literature. A multidisciplinary approach for the patient’s management is strongly recommended. Therefore, it should be necessary to integrate the path of these subjects with a dedicated dental screening in order to first assess the individual risk of developing a MRONJ, and then to plan dental treatments and oral hygiene sessions, and finally to schedule a follow-up to intercept and treat early osteonecrosis. The aim of this manuscript is to propose a new simple medical report to evaluate patients affected by metastatic bone cancer in order to reduce the risk of developing MRONJ.

scholarly journals Short-term outpatient follow-up of COVID-19 patients: A multidisciplinary approach

2021 ◽  
Vol 32 ◽  
pp. 100731
Author(s):  
M.A. de Graaf ◽  
M.L. Antoni ◽  
M.M. ter Kuile ◽  
M.S. Arbous ◽  
A.J.F. Duinisveld ◽  
...  
Keyword(s):  
Multidisciplinary Approach ◽  
Short Term

scholarly journals Osteochondroma of the pubic symphysis causing hematuria: a case report and literature review

BMC Urology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Li-cheng Song ◽  
Qian Xu ◽  
Hui Li ◽  
Zhi-jun Li ◽  
Ya Li ◽  
...  
Keyword(s):  
Bladder Tumor ◽  
Multidisciplinary Approach ◽  
Bladder Tumour ◽  
Surgical Excision ◽  
Pubic Symphysis ◽  
Careful Analysis ◽  
Bone Neoplasm ◽  
Imaging Data ◽  
Case Presentation

Abstract Background Osteochondroma is the most common benign bone neoplasm and is sometimes referred to as osteocartilaginous exostosis. The symptoms caused by osteochondroma are rare, especially the urogenital complications. Therefore, this tumour is sometimes misdiagnosed. Case presentation This report described a 70-year-old woman with hematuria who was initially misdiagnosed with a bladder tumour in the outpatient department by a urologist. However, during cystoscopy, we found that the mass did not resemble a bladder tumor. Multidisciplinary approach with careful analysis of the imaging data suggested the diagnosis of osteochondroma. Open surgical excision of the mass was done and histology confirmed the diagnosis of benign osteochondroma. After 6 months of follow-up, the patient was still asymptomatic. Conclusions This case illustrates that hematuria is caused by not only urogenital disease but also osteochondroma. We present this case to draw the attention of clinicians to osteochondroma of the pubic symphysis.

scholarly journals HGG-47. DECREASED GROWTH VELOCITY WITH LONG TERM USE OF BRAFV600e AND MEK INHIBITION IN A PATIENT WITH ANAPLASTIC GANGLIOGLIOMA

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii352-iii352
Author(s):  
Hung Tran ◽  
Robert Cooper
Keyword(s):  
Growth Velocity ◽  
Direct Result ◽  
Chromosomal Microarray ◽  
Mek Inhibition ◽  
Follow Up Study ◽  
The Family ◽  
The Relationship

Abstract PURPOSE To describe decreased growth velocity with long term use of BRAFV600e and MEK inhibition in a patient with anaplastic ganglioglioma. RESULTS 4-year-old patient was found to have a 6 x 4.6 x 5 cm mass in the hypothalamus. Pathology consistent with anaplastic ganglioglioma and chromosomal microarray revealed a BRAFV600e mutation. Patient started on dabrafenib and trametinib and tumor decreased 85% after 3 months. She is stable without significant toxicities 39 months on therapy, and is now 8 years old. Patient had been growing at the 25% for weight and 12% for height but is now 65% for weight and 0.5% for height. It is difficult to tease out the relationship between the tumor, the location of the tumor, and the BRAF and MEK inhibitors and their effect on growth. Discussions with the family and endocrinology are ongoing but being <1% for height will lead to decrease in quality of life. CONCLUSIONS Further follow-up study is needed to determine if this is truly a long-term toxicity, or if this may just be a direct result of the location of the tumor. Would supplementation with growth hormone in this patient lead to losing control of a high grade tumor, or would it simply replace a hormone that is not produced?

scholarly journals Integrated multidisciplinary diagnostic approach for dementia care: Randomised controlled trial

2008 ◽  
Vol 192 (4) ◽  
pp. 300-305 ◽  
Author(s):  
Claire A. G. Wolfs ◽  
Alfons Kessels ◽  
Carmen D. Dirksen ◽  
Johan L. Severens ◽  
F. R. J. Verhey
Keyword(s):  
Quality Of Life ◽  
Multidisciplinary Approach ◽  
Intervention Group ◽  
Dementia Care ◽  
Clinical Effects ◽  
Health Related Quality ◽  
Related Quality ◽  
Health Related

BackgroundAn integrated multidisciplinary approach to dementia is often recommended but has rarely been evaluated.AimsTo evaluate the clinical effects of an integrated multidisciplinary diagnostic facility for psychogeriatric patients.MethodPatients suspected of having complex psychogeriatric problems were randomly allocated to the intervention (n=137) or to treatment as usual (n=93). They were assessed at baseline, and at 6 months and 12 months follow-up by means of personal interviews with the patient's proxy. The primary outcome was health-related quality of life, assessed using the visual analogue scale (VAS) of the EuroQd measure, EQ-5D.ResultsHealth-related quality of life had improved at 6 months in the intervention group, whereas that of the control group had decreased. Furthermore, more patients in the intervention group experienced a clinically relevant improvement of 10 points or more on the VAS at both follow-up measurements.ConclusionsAn integrated multidisciplinary approach improves dementia care.

scholarly journals LINC-39. PERFORMANCE STATUS OF PEDIATRIC PATIENTS WITH CENTRAL NERVOUS SYSTEM TUMORS TREATED IN MEXICO, A SINGLE-CENTER EXPERIENCE

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii385-iii386
Author(s):  
Claudia Madrigal-Avila ◽  
Alfonso Perez-Bañuelos ◽  
Rafael Ruvalcaba-Sanchez ◽  
Lourdes Vega-Vega ◽  
Gabriela Escamilla-Asiain
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Multidisciplinary Approach ◽  
Pediatric Patients ◽  
Performance Status ◽  
Retrospective Chart Review ◽  
Cns Tumors ◽  
Surgical Morbidity ◽  
Tertiary Center

Abstract BACKGROUND Central nervous system (CNS) tumors are the most common solid neoplasms in the pediatric age, they comprise about a quarter of all cancers at this age. Little is known about the specific epidemiology of this group in Mexico and there are no reports of results focused on the Performance Status of patients who are treated in a multidisciplinary setting. OBJECTIVE To describe the Performance Status of CNS pediatric patients after being treated with a multidisciplinary approach in a tertiary center. METHODS We report a retrospective chart review of all pediatric patients who presented to the Neuro-Oncology Clinic at Teleton Pediatric Oncology Hospital in Queretaro, Mexico, from December 2014 to January 2020. We analyzed age, gender, the extent of surgical resection and histopathology. Performance Status was assessed using ECOG and Karnofsky/Lansky scores during every patient’s last follow-up visit. RESULTS A total of 56 patients were treated, epidemiology and histopathology variants are similar to those described in the international literature. With a median follow-up of 33 months, 35 patients are alive (62.5%), 28 of them (74.2%) have an excellent Performance Status (ECOG score 0 or Lansky/Karnofsky ≥ 90), 5 (14.2%) scored ECOG 1–2 and only 4 (11.4%) scored ECOG 3–4. CONCLUSIONS A multidisciplinary approach with a focus on Performance Status and the potential for neurological recovery is essential in the management of pediatric patients with CNS tumors. Efforts should be aimed at reducing post-surgical morbidity and early rehabilitation to reintegrate patients into society in the long term.

Abstract P229: Is a Multidisciplinary Approach to Hypertension Better Than Traditional Care in Female Hypertensive Patients?

Hypertension ◽  
2015 ◽  
Vol 66 (suppl_1) ◽  
Author(s):  
Jessica A Weber ◽  
Shital C Shah ◽  
Sara Turley ◽  
Lynne T Braun ◽  
Erica R Kent ◽  
...  
Keyword(s):  
Nurse Practitioners ◽  
Multidisciplinary Approach ◽  
Smoking Status ◽  
Bivariate Analysis ◽  
Standard Practice ◽  
Personalized Care ◽  
Moderating Variables ◽  
Care Plans ◽  
Treatment Type

Background: Rush Heart Center for Women (RHCW) opened in October 2003 to provide a multidisciplinary approach (MDA) for female patients (pts). RHCW provided personalized care plans to address women’s heart health, with an emphasis on female-specific risk factors and symptoms. MDA including cardiologists, dietitians and nurse practitioners to treat female pts was compared to a similar cohort using standard practice in terms of HTN treatment. Methods: A retrospective study identified pts with HTN treated at RHCW using a MDA and compared to a cohort of pts treated by cardiologists and received a standard level of care consistent with guidelines and recommendations (standard practice). Pts seen between 2008 and 2014 with at least 2 visits between 9 and 15 months apart were studied. Demographic moderating variables were race, age, and insurance. Moderating clinical variables were baseline systolic BP, body mass index, diabetes, smoking status, history of coronary disease, stroke, and prior treatment of HTN. Bivariate and multivariate analyses were conducted to determine the effect of treatment type, with pts’ follow-up BP. Results: A total of 1486 pts were evaluated. Pts seen treated by MDA was younger by <3 years. Table shows descriptive statistics and bivariate analysis. Multivariate analysis revealed that pts treated with MDA had a significantly lower BP in their follow-up systolic BP, 3.8 mmHg less, compared to pts treated with standard practice. (p<0.002). Conclusion: The multidisciplinary approach had better BP control in female hypertensive pts. Prospective studies comparing MDA to standard practice may help to assess improved quality of life, compliance and outcomes.

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