Tongue Reduction Surgery and Feeding Difficulties in Infants With Beckwith Wiedemann Syndrome: A Case Series

2018 ◽  
Vol 56 (5) ◽  
pp. 679-689 ◽  
Author(s):  
Nicole Prendeville ◽  
Debbie Sell
Keyword(s):  
Rating Scale ◽  
Case Series ◽  
Initial Assessment ◽  
Feeding Behaviors ◽  
Feeding Difficulties ◽  
Texture Modification ◽  
Tongue Reduction ◽  
Oral Stage ◽  
Risk Of Aspiration ◽  
Age Range

Objective: To profile the pre- and post-operative feeding difficulties in infants with macroglossia in Beckwith Wiedemann Syndrome (m-BWS) who have had tongue reduction surgery (TRS) and to pilot a bespoke feeding rating scale. Design: Retrospective consecutive case series designed with two pre-operative and one 3-month post-operative feeding assessments. A 4-point Likert-type scale was developed and applied retrospectively to describe the feeding behaviors for liquids, purées, and solids. Descriptive and non-parametric statistics were used. Setting: National service for children with m-BWS at a pediatric hospital. Patients: Twenty-five infants, age range 4 to 12 months at initial assessment, underwent TRS (median age = 16 months). Intervention: Tongue reduction surgery. Outcome Measure: Oral and selected pharyngeal stage feeding behaviors on liquids, purées, and solids. Results: Pre-operative profile: Most feeding difficulties arose at the oral stage due to the macroglossia impacting important lingual movements. Difficulties were found with lip seal formation, biting, bolus manipulation and tongue lateralization. Aspiration risk was found in >75%. Texture modification was indicated for purées and solids. Post-operative profile: There were statistically significant differences for each consistency pre- and post-operatively. Eighty-four percent of infants had age-appropriate drinking and eating skills. Mild residual difficulties with biting, tongue lateralization, and bolus manipulation remained for solids in four infants. Conclusions: Feeding difficulties are common pre-operatively in m-BWS, putting infants at risk of aspiration if left unmanaged. TRS was effective in reducing or eliminating them. This is the first systematic report of infant feeding in m-BWS pre- and post-TRS.

Primary Calvarial Ewing Sarcoma: A Case Series

2021 ◽  
Author(s):  
Sandeep Mohindra ◽  
Manjul Tripathi ◽  
Aman Batish ◽  
Ankur Kapoor ◽  
Ninad Ramesh Patil ◽  
...  
Keyword(s):  
Ewing Sarcoma ◽  
Tumor Resection ◽  
Case Series ◽  
Radical Excision ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Intradural Tumor ◽  
Age Range

Abstract Background Calvarial Ewing tumor is a relatively rare differential among bony neoplasms. We present our experience of managing primary calvarial Ewing sarcoma (EWS), highlighting their clinical and radiological findings. Method In a retrospective analysis, we evaluated our 12-year database for pathologically proven EWS. A literature search was conducted for the comparative presentation and update on the management and outcome. Result From January 2008 to December 2020, we managed eight patients (male:female = 5:3; age range 6 months to 19 years, mean 11.5 years) harboring primary calvarial EWS. All cases underwent wide local excision; two patients required intradural tumor resection, while one required rotation flap for scalp reconstruction. Mean hospital stay was 8 days. All patients received adjuvant chemo- and radiotherapy. Three patients remained asymptomatic at 5 years of follow-up, while two patients died. Conclusion Primary calvarial EWS is a rare entity. It usually affects patients in the first two decades of life. These tumors can be purely intracranial, causing raised intracranial pressure symptoms, which may exhibit rapidly enlarging subgaleal tumors with only cosmetic deformities or symptoms of both. Radical excision followed by adjuvant therapy may offer a favorable long-term outcome.

scholarly journals Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series

2020 ◽  
pp. 088307382097799
Author(s):  
Eva Wibbeler ◽  
Raymond Wang ◽  
Emily de los Reyes ◽  
Nicola Specchio ◽  
Paul Gissen ◽  
...  
Keyword(s):  
Treatment Duration ◽  
Chart Review ◽  
Rating Scale ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Case Series ◽  
Language Function ◽  
Retrospective Case ◽  
Function Loss ◽  
Clinical Rating Scale

Background: The classic phenotype of CLN2 disease (neuronal ceroid lipofuscinosis type 2) typically manifests between ages 2 and 4 years with a predictable clinical course marked by epilepsy, language developmental delay, and rapid psychomotor decline. Atypical phenotypes exhibit variable time of onset, symptomatology, and/or progression. Intracerebroventricular-administered cerliponase alfa (rhTPP1 enzyme) has been shown to stabilize motor and language function loss in patients with classic CLN2 disease, but its impact on individuals with atypical phenotypes has not been described. Methods: A chart review was conducted of 14 patients (8 male, 6 female) with atypical CLN2 phenotypes who received cerliponase alfa. Pre- and posttreatment CLN2 Clinical Rating Scale Motor and Language (ML) domain scores were compared. Results: Median age at first presenting symptom was 5.9 years. First reported symptoms were language abnormalities (6 [43%] patients), seizures (4 [29%]), ataxia/language abnormalities (3 [21%]), and ataxia alone (1 [7%]). Median age at diagnosis was 10.8 years. ML score declined before treatment in 13 (93%) patients. Median age at treatment initiation was 11.7 years; treatment duration ranged from 11 to 58 months. From treatment start, ML score remained stable in 11 patients (treatment duration 11-43 months), improved 1 point in 1 patient after 13 months, and declined 1 point in 2 patients after 15 and 58 months, respectively. There were 13 device-related infections in 8 patients (57%) and 10 hypersensitivity reactions in 6 (43%). Conclusions: Cerliponase alfa is well tolerated and has the potential to stabilize motor and language function in patients with atypical phenotypes of CLN2 disease.

scholarly journals A national study of choanal atresia in tertiary care centers in Canada – part I: clinical presentation

2021 ◽  
Vol 50 (1) ◽  
Author(s):  
Josee Paradis ◽  
Agnieszka Dzioba ◽  
Hamdy El-Hakim ◽  
Paul Hong ◽  
Frederick K. Kozak ◽  
...  
Keyword(s):  
Respiratory Distress ◽  
Clinical Presentation ◽  
Tertiary Care ◽  
Choanal Atresia ◽  
Case Series ◽  
Retrospective Chart Review ◽  
National Study ◽  
Feeding Difficulties ◽  
Presenting Symptoms ◽  
Tertiary Care Centers

Abstract Background To evaluate the clinical presentation of choanal atresia (CA) in tertiary centers across Canada. Methods Multi-centre case series involving six tertiary care pediatric hospitals across Canada. Retrospective chart review of patients born between 1980 and 2010 diagnosed with CA at a participating center. Results The health charts of 215 patients (59.6% female) with CA were reviewed and included in this study. The mean age of patients at time of CA presentation was 0.4 months (range 0.1 to 7.2 months) for bilateral CA and 37.8 months (range 0.1 to 164.1 months) for unilateral cases. The most common presenting symptoms for bilateral CA in decreasing order were respiratory distress (96.4%), feeding difficulties (68.2%), and rhinorrhea (65.5%), and for unilateral cases in decreasing order were rhinorrhea (92.0%), feeding difficulties (24.7%), and respiratory distress (18.0%). For the majority of patients (73.2%), the obstruction comprised mixed bony and membranous tissue, with only 10.5% presenting with a purely membranous obstruction. Familial history of CA was confirmed in only 3.3% of cases. One half of patients with CA presented with one or more associated anomalies and 30.6% had a syndrome. Conclusions The present investigation is the first national multi-institutional study evaluating the clinical presentation of CA over three decades. The present cohort of CA patients presented with a breadth of co-morbidities with highly variable presentations, with bilateral cases being more severely affected than unilateral cases. Further investigation into hereditary linkages to CA development is warranted. Graphical abstract

The response to radiofrequency neurotomy of medial branches including a bipolar system for thoracic facet joints

2018 ◽  
Vol 18 (4) ◽  
pp. 747-753
Author(s):  
Olav Rohof ◽  
Chee Kean Chen
Keyword(s):  
Joint Pain ◽  
Rating Scale ◽  
Facet Joint ◽  
Controlled Trial ◽  
Case Series ◽  
Interventional Treatment ◽  
Medial Branch ◽  
Pain Disability Index ◽  
The Mean ◽  
Facet Joint Pain

AbstractBackground and aimsThe evidence for interventional treatment of thoracic facet joint pain remains limited. This is partly due to inconsistency of the path of thoracic medial branches and a lower incidence of thoracic facet pain among spine pain patients. The purpose of this study is to evaluate the efficacy of bipolar radiofrequency (RF) neurotomy of medial branches for treating chronic thoracic facet joint pain.MethodsThis is a retrospective record review of all patients diagnosed to have thoracic facet pain with diagnostic block and subsequently treated with bipolar RF neurotomy of medial branch between January 2012 and December 2015. The outcome measures were mean changes in Numeral Rating Scale (NRS) and Pain Disability Index (PDI).ResultsThere were 71 patients with complete data available for analysis. The mean age of the patients was 57.9±11.2 years. The mean duration of pain was 23±10.5 months. The majority of patients (82%) had pain reduction of more than 50% at 12 months after bipolar RF neurotomy. The NRS decreased significantly from baseline of 7.75±1.25 to 2.86±1.53 at 3 months and 2.82±1.29 at 12 months post-procedure (p<0.001.p<0.001, respectively). The PDI improved significantly from 40.92±12.22 to 24.15±9.79,p<0.05). There were no serious adverse effects or complications of the procedure reported in this study.ConclusionsBipolar RF neurotomy of thoracic medial branch is associated with a significant reduction in thoracic facet joint pain. The promising findings from this case series merit further assessment with prospective, randomized controlled trial which will produce a more reliable and accurate finding for its clinical applications.

The efficacy of transcatheter arterial embolization for knee pain on patients with knee osteoarthritis: A case series

2021 ◽  
pp. 1-6
Author(s):  
Kun Yung Kim ◽  
Gi-Wook Kim
Keyword(s):  
Conservative Treatment ◽  
Knee Osteoarthritis ◽  
Knee Pain ◽  
Transcatheter Arterial Embolization ◽  
Rating Scale ◽  
Case Series ◽  
Arterial Embolization ◽  
Numeric Rating Scale ◽  
Knee Oa ◽  
Before And After

BACKGROUND: Knee osteoarthritis (OA) is accompanied by inflammation and angiogenesis. Modifying angiogenesis through transcatheter arterial embolization (TAE) can be a potential treatment for knee OA. OBJECTIVE: We subjected five OA knees in three patients to TAE and report the results of our post-treatment observations. CASE DESCRIPTION: Three patients that had experienced knee pain for a minimum of one year prior to the study, and whose pain had persisted despite conservative treatment, were included in this study. Patients more often chose conservative treatment over surgical treatment. Pain and functional scales were evaluated before, immediately, and 1 month after TAE using the Numeric Rating Scale (NRS) and Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC). TAE was performed by an experienced interventional radiologist. The average values of NRS evaluated before and after 5 TAEs were 5.2 before TAE, 3 immediately after TAE, and 3.6 after 1 month of TAE, and the average values of WOMAC were 52, 38.4, and 36.4, respectively. There were no major adverse effects. CONCLUSION: The examined cases support the conclusion that TAE is an effective treatment for patients with knee OA. Substantial pain relief and WOMAC improvement were observed both immediately and one month after TAE.

scholarly journals The effectiveness of physiotherapy in cervicogenic headache and concurring temporomandibular dysfunction: a case report

2010 ◽  
Vol 66 (1) ◽  
Author(s):  
F. Lewis ◽  
B. Naude
Keyword(s):  
Case Report ◽  
Muscle Strength ◽  
Rating Scale ◽  
Myofascial Pain ◽  
Positive Outcome ◽  
Cervicogenic Headache ◽  
Initial Assessment ◽  
Range Of Movement ◽  
Temporomandibular Dysfunction ◽  
Therapy Interventions

The aim of this case report is to describe the use of physio-therapy interventions in a patient diagnosed with cervicogenic headache(CGH) and temporomandibular dysfunction (TMD). This case study involveda 26 year old male. The subject’s cervical and temporomandibular joint(TMJ) active range of movement; passive accessory movements; headacheintensity, periodicity and response to analgesics; TMJ clicking and discomfort;Numerical Pain Rating Scale (NPRS) scores, were assessed on initial assessment and on discharge 14 weeks later. The physiotherapy interventionincluded cervical and TMJ mobilisation (Maitland approach); trigger pointtherapy and massage; strengthening of the deep cervical neck flexors and scapulothoracic muscles; and posture correction. The subject improved on all outcome measures and was discharged after nine physiotherapy sessions, withfull cervical and TMJ range of movement, improved muscle strength and decreased headache intensity and frequency.This case describes a positive outcome for a patient diagnosed with cervical headaches and temporomandibular dysfunction in which physiotherapy interventions aimed at correcting joint dysfunction, myofascial pain and decreased muscle strength were used effectively.

The ‘open-earedness’ hypothesis and the development of age-related aesthetic reactions to music in elementary school children

2008 ◽  
Vol 25 (2) ◽  
pp. 121-138 ◽  
Author(s):  
Reinhard Kopiez ◽  
Marco Lehmann
Keyword(s):  
Elementary School ◽  
School Children ◽  
Elementary School Children ◽  
Classical Music ◽  
Rating Scale ◽  
Avant Garde ◽  
Musical Preference ◽  
Age Related ◽  
Age Range ◽  
Musical Styles

This study investigates age-related changes in musical preference in elementary school children. The tolerance towards unconventional musical styles has been called ‘open-earedness’ (Hargreaves, 1982a), and it is assumed to decline with increasing age. Musical preferences of 186 students from grade 1 to 4 (age range: 6–10 years) were measured by using a 5-point iconographic rating scale. Eight sound examples were presented in a sound questionnaire. Results showed a decline of open-earedness for unconventional music (classical, ethnic and avant-garde music) from grade 1 to 2 (age: 7–8 years). However, this effect disappeared when classical music was excluded from data analysis. Only a few absolute rejections of unconventional musical styles were found, and the mean preference ratings did not exceed the neutral mean range. Future studies will have to consider additional factors of influence to make clear predictions about the point in time when this transition occurs.

scholarly journals PRIMARY OSTEOSARCOMA DISTAL FEMUR;

2013 ◽  
Vol 20 (02) ◽  
pp. 256-260
Author(s):  
FAAIZ ALI SHAH ◽  
ABDUL AZIZ ZIA ◽  
ZAHIR KHAN ◽  
Kifayatullah -
Keyword(s):  
Pulmonary Metastasis ◽  
Distal Femur ◽  
Tertiary Care ◽  
Case Series ◽  
Pulmonary Involvement ◽  
Initial Presentation ◽  
Initial Assessment ◽  
Careful Examination ◽  
Care Hospital ◽  
Primary Osteosarcoma

Objectives: This study was designed to estimate the incidence rate of pulmonary metastasis at the time of diagnosis ofprimary osteosarcoma distal femur in a tertiary care hospital. Study Design: Descriptive case series. Setting and Duration: OrthopaedicSurgery Unit, Mardan Medical Complex Teaching hospital, Bacha Khan Medical College, Mardan, KPK, Pakistan from March 2011 toSeptember 2012. Methodology: Nine patients of primary osteosarcoma distal femur were assessed with CT chest for pulmonarymetastasis. The frequency and patterns of pulmonary metastasis on CT chest were documented. After the biopsy reports all patientswere referred for neo adjuvant chemotherapy before any definite surgical procedure. The histological types of osteosarcoma were noted.RESULTS: Nine patients including 7 male (77.7%) and 2 females (22.2%) with mean age 12.4 years were included in our study. 66.6 %(n=6, 5 males, 1 female) had pulmonary metastasis on CT chest at initial presentation while 33 %( n=3,2 males,1 female) had nopulmonary metastases on CT chest. Three (50%) patients had pulmonary metastasis in the right lung, 1(16.6%) had on left side while2(33.3%) had bilateral pulmonary involvement. Of the cases with metastases at diagnosis, 55.5% had osteoblastic histology ofosteosarcoma compared with 33.3% of those with non metastatic disease. Conclusions: Majority of osteosarcoma distal femurpresented with pulmonary metastasis at initial presentation. A high index of suspicion accompanied by careful examination of the limband appropriate radiographs at initial assessment may reduce the incidence of such delays in diagnosis and the associated risks.

scholarly journals EFFECT OF SUBCUTANEOUS RECOMBINANT HUMAN ERYTHROPOIETIN ON BLOOD PRESSURE IN PRE-DIALYSIS CHRONIC KIDNEY DISEASE (CKD) PATIENTS

2021 ◽  
Vol 71 (1) ◽  
pp. 261-65
Author(s):  
Muhammad Sajid Hussain ◽  
Qasim Raza ◽  
Muhammad Omer Aamir ◽  
Nadia Murtaza ◽  
Sadia Naureen ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Chronic Kidney Disease ◽  
Body Weight ◽  
Kidney Disease ◽  
Recombinant Human Erythropoietin ◽  
Case Series ◽  
Military Hospital ◽  
P Value ◽  
Human Erythropoietin ◽  
Age Range

Objective: To determine the effect of subcutaneous recombinant human erythropoietin on blood pressure in predialysis chronic kidney disease (CKD) patients. Study Design: Case-series descriptive study. Place and Duration of Study: Combined Military Hospital Peshawar, from Mar 2016 to Sep 2016. Methodology: A total of 100 cases were enrolled. Inclusion criteria was patients of 18 to 60 years of both gender & estimated glomerular filtration rate (eGFR) below 30 mL/min/1.73 m2 having Hb <10g/dL and pre-dialysis while Exclusion Criteria was pregnancy or lactation, BP more than 140/90 mmHg, patients on Haemodialysis and worsening renal function. Baseline BP, body weight and eGFR of anaemic chronic kidney disease patients were recorded prior to EPO Alpha therapy. Erythropoiesis-stimulating agents (ESAs) i.e. EPO Alpha (50-100 Units/kg thrice or once weekly) was administered subcutaneously. Subsequent blood pressure, body weight and eGFR monitoring was done after 2 and 4 weeks post EPO Alpha injection. Results: Mean age range was 46.71 years with range of 20-60 years, 73 (73%) were male while 27 (27%) werefemales. Mean ± SD for other quantitative variables like eGFR was 23.12 ± 5.28, Hb levels (g/dL) was 8.62 ± 0.85,Weight (kg) was 56.66 ± 6.62 and duration of CKD was 9.87 ± 4.02. Frequency of Hypertension (post EPO) was 2(2%) and p-value was 0.453. Conclusion: We concluded that the frequency of hypertension in pre-dialysis patients with chronic kidney disease (CKD) receiving recombinant human erythropoietin (rhEPo) subcutaneously (SC) in low doses, is very low, so rhEPo can be used subcutaneously......................

scholarly journals Obstetric emergencies during the COVID-19 lockdown period: a case series

2020 ◽  
Vol 9 (11) ◽  
pp. 4682
Author(s):  
Ananya Vasudhar ◽  
Anita S. ◽  
Gayatri L. Patil ◽  
Shridevi A. S. ◽  
Tejaswi V. Pujar ◽  
...  
Keyword(s):  
Risk Stratification ◽  
Health System ◽  
Patient Care ◽  
Ethical Dilemmas ◽  
Case Series ◽  
Mortality Rates ◽  
Morbidity And Mortality ◽  
Initial Assessment ◽  
Obstetric Emergencies

Obstetric emergencies during COVID-19 pandemic pose an enormous challenge to the concerned obstetrician. Risk stratification during obstetric triage will guide in the initial assessment & planning of further management to reduce maternal and fetal morbidity and mortality rates. As the health system adapts to cope with this pandemic, special attention needs to be given to the several moral and ethical dilemmas that may occur during patient care.

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