scholarly journals Оcular manifestation in Goldenhar syndrome- case report

2020 ◽  
Vol 12 (2) ◽  
pp. 64-70
Author(s):  
Bisera Velkovska ◽  
Natasha Trpevska Shekerinov ◽  
Emilija Gjoshevska Dashtevska ◽  
Maja Ivanova
Keyword(s):  
Case Report ◽  
Multidisciplinary Approach ◽  
Treatment Protocol ◽  
Facial Asymmetry ◽  
Goldenhar Syndrome ◽  
Female Ratio ◽  
Mandibular Hypoplasia ◽  
Optimal Functioning ◽  
Clinical Presentations ◽  
Male To Female

Goldenhar's syndrome (GS) is a complex syndrome characterized by a combination of abnormalities: hemifacial macrosomia, mandibular hypoplasia, ocular dermoids, ear abnormalities, and vertebral disorders. The incidence of GS is about 1 in 5000 to 25,000 live births. The male to female ratio is 3: 2.The etiology of this rare disease is not fully understood. The treatment protocol depends on the age of the patient and systemic clinical presentations. This paper presents a case of a 46-year-old woman with Goldenhar syndrome, which manifested with facial asymmetry, epibulbar dermoid, hearing loss, and scoliosis. Because it is a congenital syndrome, these people's lives are complex from an early age. There is a need for timely recognition of this syndrome and a multidisciplinary approach in treating these patients, with a team of specialist physicians, to enable them as much optimal functioning as possible in the environment. By presenting this case report, we would like to attract the attention of GS, which would be of educational significance for all physicians, primarily ophthalmologists, as well as otolaryngologists and orthopedists.

scholarly journals Management of Adult Renal Tumours: Review of Nine (9) Years Experience

2020 ◽  
Vol 2 (5) ◽  
Author(s):  
Ngwobia Peter Agwu ◽  
Abdullahi Khalid ◽  
Uzodimma Ejike Onwuasoanya ◽  
Abdullahi Abdulwahab-Ahmed ◽  
Abubakar Sadiq Muhammad ◽  
...  
Keyword(s):  
Late Presentation ◽  
Molecular Therapy ◽  
Female Ratio ◽  
Review Period ◽  
Urological Malignancies ◽  
Clinical Presentations ◽  
Renal Tumours ◽  
Male To Female ◽  
Management Challenge

Background: Renal tumours appear to be relatively uncommon in our routine urological practice compared to other urological malignancies of bladder and prostate origins. Their presentations are often late despite increasing availability and affordability of routine imaging modalities for early detection. This therefore poses management challenge in our environment. This study aims to review our 9-year experience with the management of renal tumours at the Urology Unit of a tertiary health facility in North-western Nigeria Methodology: A retrospective review of 20 patients managed for renal tumour at our facility from September 2009 to August 2017. Data of all adult patients managed for renal tumours was retrieved and analyzed using SPSS 20.0 version for windows. The results were presented in percentages and mean ± SD as well as charts. Results: Twenty (20) patients were managed for renal tumours during the review period. The mean age of patients was 39.94 ± 12.19 years with median of 35 years and male to female ratio of 1:2. Nineteen (19) patient (95%) and 1(5%) had malignant and benign renal tumours respectively. Clinical presentations were flank mass seen in 18 patients (90%), flank pain 16 (80%), haematuria 10(50%), cough 2(10%), and pleural effusion 2(10%). Only clinical stages III and IV tumour were seen. 70% were clear cell variety while 5% was angiomyolipoma. Sixteen (80%) of patients had radical nephrectomy and two (10%) with inoperable tumour benefited from targeted molecular therapy preoperatively using Sorafenib. Conclusion: Late presentation of patients with renal tumours to our facility despite the availability of imaging facilities such as ultrasound scanning is still the norm. This makes surgery which offers best chance of survival and quality of life difficult and challenging. Targeted therapy using sorafenib, if available and affordable in our environment will be useful in management of patients with inoperable tumours.

scholarly journals Do you know this syndrome?

2012 ◽  
Vol 87 (3) ◽  
pp. 495-497
Author(s):  
Luiz Maurício Costa Almeida ◽  
Michelle dos Santos Diniz ◽  
Lorena dos Santos Diniz
Keyword(s):  
Multidisciplinary Approach ◽  
Goldenhar Syndrome ◽  
Clinical Aspects ◽  
Genetic Syndrome ◽  
Live Births ◽  
Mandibular Hypoplasia ◽  
Radiologic Findings ◽  
Branchial Arches ◽  
Skin Tags ◽  
Systemic Manifestations

Goldenhar syndrome is a sporadic or inherited genetic syndrome characterized by limbal dermoids, preauricular skin tags and mandibular hypoplasia. Vertebral abnormalities may occur. The incidence of this syndrome ranges from 1 in 5,600 to 1 in >20,000 live births. It consists of abnormalities involving the first and second branchial arches. The etiology of the syndrome is heterogeneous. Diagnosis should be based principally on clinical aspects, which should be associated with the patient's systemic conditions and radiologic findings. Treatment depends on the patient's age and systemic manifestations, with a multidisciplinary approach often being required.

Atypical Presentation of Goldenhar Syndrome

2021 ◽  
Vol 29 (1) ◽  
pp. 98-101
Author(s):  
Shubhrakanti Sen ◽  
Debmalya Maity ◽  
Arnab Koley
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Chromosomal Analysis ◽  
Goldenhar Syndrome ◽  
Ocular Involvement ◽  
Atypical Presentation ◽  
Multifactorial Inheritance ◽  
Mandibular Hypoplasia ◽  
Exact Etiology ◽  
Vertebral Anomalies

Introduction In 1952 Goldenhar described a case with triad of pre auricular tags, mandibular hypoplasia and ocular (epibulbar) dermoid and described the case as Goldenhar Syndrome. Case Report A case of Goldenhar Syndrome without ocular involvement is presented. Discussion Goldenhar syndrome is also known as oculoauriculovertebral dysplasia due to presence of additional vertebral anomalies. Exact etiology of this disease is not known. Most of the cases are   sporadic, though autosomal recessive/dominant and multifactorial inheritance has also been suggested. Chromosomal analysis shows no abnormalities.

Herpes Simplex Virus Laryngitis Presenting as Airway Obstruction: A Case Report and Literature Review

2017 ◽  
Vol 126 (5) ◽  
pp. 424-428 ◽  
Author(s):  
Lucas Harless ◽  
Nancy Jiang ◽  
Frank Schneider ◽  
Megan Durr
Keyword(s):  
Case Report ◽  
Herpes Simplex Virus ◽  
Herpes Simplex ◽  
Literature Review ◽  
Clinical Presentation ◽  
Female Ratio ◽  
Antiviral Medication ◽  
Highly Effective ◽  
Simplex Virus ◽  
Male To Female

Objectives: Herpes simplex virus (HSV) laryngitis is rare in adults. We add a case report to the literature and perform a literature review to further delineate the clinical presentation, course, and treatment of HSV laryngitis in adults. Methods: Case report and literature review using PubMed and Ovid databases. Results: Ten cases of diagnosed HSV laryngitis in adults were reported in the literature. It is more common in immunocompromised patients. The mean patient age was 51 years with a male to female ratio of 1:1. The clinical presentation and course of HSV laryngitis is variable. Patients may have mild chronic symptoms, such as dysphonia, or a fulminant course with rapid airway compromise. On laryngoscopic exam, the most common findings are a white exudate or ulceration. The most common treatment is with antiviral medication, such as acyclovir, which tends to be highly effective. Conclusions: Herpes simplex virus laryngitis is rare. Clinical presentation of HSV laryngitis is variable, and its course may be indolent or fulminant. Treatment with antiviral medication tends to be highly effective.

scholarly journals Ulnar longitudinal deficiency: a rare case report and review

2020 ◽  
Vol 7 (1) ◽  
pp. 159
Author(s):  
Akshay Lamba ◽  
Naresh Kumar ◽  
Chaitanya Krishna ◽  
Sargam Chhabra
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Flexion Deformity ◽  
Female Ratio ◽  
Ulnar Deviation ◽  
Live Births ◽  
Rare Case Report ◽  
Ulnar Longitudinal Deficiency ◽  
Male To Female ◽  
Fixed Flexion Deformity

<p class="abstract">Ulnar hemimelia is a rare postaxial partial or complete longitudinal deficiency of ulna. It has an estimated incidence of 1/100,000-150,000 live births, with a male to female ratio of 3:2. There is usually ulnar deviation of hand and shortening of forearm. Radial head subluxation and fixed flexion deformity of the hand may be associated with it. Complex carpal, metacarpal, and digital abnormalities including absence of triquetrum, capitate and three fingered hand (tridactyly) are additional findings commonly found in association. Here, we present a case of a 17-year-old female with left sided ulnar club hand due to isolated partial ulnar aplasia.</p>

scholarly journals Experience of Radical Radiotherapy for Patients with Stages I-III Squamous Cell Carcinoma of the Glottic Larynx

2016 ◽  
Vol 10 (2) ◽  
pp. 63-67
Author(s):  
Md Nizamul Haque ◽  
Sk Golam Mostafa ◽  
Qamruzzaman Chowdhury ◽  
Mokles Uddin ◽  
Syed Akram Hussain ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Treatment Protocol ◽  
Radical Radiotherapy ◽  
Short Term ◽  
Female Ratio ◽  
Grade Ii ◽  
Male To Female ◽  
Conventionally Fractionated

This study was carried out from May 2012 to April 2013, on short term effects of Radical Radiotherapy for patients with Stages I-III squamous cell carcinoma of the glottic larynx at National Institute of Cancer Research and hospital, Mohakhali, Dhaka. A total of 50 biopsy proved squamous cell carcinoma of the glottis larynx were treated with radical Radiotherapy, total dose of which was 66Gy in 33 fractions over 7 weeks, conventionally fractionated with 200 cGy per fraction, one fraction per day and 5 fractions per week, using the machine 6 MV LINAC. The main outcome variables of the study were toxicities and clinical outcome of the patients. The peak age incidence was found in the age group of 51-60 years (56%). Among 50 patients, there were 82% males and 18% females and male to female ratio was 4.6:1. There were 86% found smokers and rests of the 14% patients were non smoker. Treatment related haematological and non-haematological acute and delayed toxicities were studied. Mucosities 28% (grade-II), skin reaction 78% (grade-II), anaemia 52% (grade-II), dysphagia 70% were the most common acute toxicities where as xerostomia 16% was the delayed side effect. With this treatment protocol, 86% patients responded completely.Faridpur Med. Coll. J. Jul 2015;10(2): 63-67

Microneurosurgical Treatment of Intracranial Dermoid and Epidermoid Tumors

Neurosurgery ◽  
1989 ◽  
Vol 24 (4) ◽  
pp. 561-567 ◽  
Author(s):  
M. Gazi Yaşargil ◽  
Chad D. Abernathey ◽  
Ali ç. Sarioglu
Keyword(s):  
Cranial Nerve ◽  
Relaxation Times ◽  
T2 Relaxation ◽  
Female Ratio ◽  
Clinical Presentations ◽  
Cranial Nerve Palsies ◽  
Dermoid Tumor ◽  
Similar Appearance ◽  
Male To Female

ABSTRACT Forty-three patients with intracranial, intradural dermoid (8) and epidermoid (35) tumors underwent radical surgical resection utilizing strict microneurosurgical technique. The average age was 37.3 years for the patients with epidermoid tumors and 36.2 years for the patients with dermoid tumors. The male to female ratio was 3:2 for the epidermoid group and 3:1 for the dermoid group. Common clinical presentations included cerebellar dysfunction, cranial nerve impairment, and seizures. Typically, computed tomography scans revealed the epidermoid tumors (30 cases studied) as nonhomogeneous hypodense lesions with irregular borders and without contrast enhancement. The dermoid tumors (7 cases studied) had a similar appearance, but with a wider range of attenuation values. Magnetic resonance imaging findings for the epidermoid tumors (6 cases studied) consisted of increased T1 and increased T2 relaxation times. Supratentorial tumors were excised by the pterional (frontosphenotemporal) approach, mesencephalic tumors by either a supratentorial posterior interhemispheric transtentorial approach or an infratentorial/supracerebellar method, and posterior fossa tumors by either a medially or laterally positioned suboccipital osteoplastic craniotomy. One epidermoid tumor and one dermoid tumor were considered to be subtotally resected because of dense adherences left attached to vital structures; the remaining 41 tumors were completely excised. The most frequent complications were aseptic/chemical meningitis and transient cranial nerve palsies. There were no perioperative deaths. Mean follow-up was 5.2 years. Eighty-six percent of patients reported good to excellent results. No patient had experienced symptomatic or radiographic evidence of recurrence. These results suggest that although dermoid and epidermoid tumors tend to cross anatomical boundaries via the subarachnoid system, in the majority of patients tumors can be resected in their entirety with relatively low morbidity by utilizing microneurosurgical techniques.

scholarly journals Seasonality of tuberculosis in intermediate endemicity setting dominated by reactivation diseases in Hong Kong

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Leonia Hiu Wan Lau ◽  
Ngai Sze Wong ◽  
Chi Chiu Leung ◽  
Chi Kuen Chan ◽  
Alexis K. H. Lau ◽  
...  
Keyword(s):  
Hong Kong ◽  
Regression Models ◽  
Seasonal Pattern ◽  
The Elderly ◽  
Linear Regression Models ◽  
Recent Infection ◽  
Female Ratio ◽  
Clinical Presentations ◽  
Intermediate Endemicity ◽  
Male To Female

AbstractSummer-spring predominance of tuberculosis (TB) has been widely reported. The relative contributions of exogenous recent infection versus endogenous reactivation to such seasonality remains poorly understood. Monthly TB notifications data between 2005 and 2017 in Hong Kong involving 64,386 cases (41% aged ≥ 65; male-to-female ratio 1.74:1) were examined for the timing, amplitude, and predictability of variation of seasonality. The observed seasonal variabilities were correlated with demographics and clinical presentations, using wavelet analysis coupled with dynamic generalised linear regression models. Overall, TB notifications peaked annually in June and July. No significant annual seasonality was demonstrated for children aged ≤ 14 irrespective of gender. The strongest seasonality was detected in the elderly (≥ 65) among males, while seasonal pattern was more prominent in the middle-aged (45–64) and adults (30–44) among females. The stronger TB seasonality among older adults in Hong Kong suggested that the pattern has been contributed largely by reactivation diseases precipitated by defective immunity whereas seasonal variation of recent infection was uncommon.

scholarly journals Combating Airway Issues with Elective Use of an I Gel in a Child with Goldenhar Syndrome

2021 ◽  
Vol 7 (3) ◽  
Author(s):  
Shilpi Sethi ◽  
Manish Sethi
Keyword(s):  
Case Report ◽  
Airway Management ◽  
Difficult Airway ◽  
Facial Asymmetry ◽  
Preoperative Assessment ◽  
Goldenhar Syndrome ◽  
Surgical Removal ◽  
Hemifacial Microsomia ◽  
Oculoauriculovertebral Spectrum ◽  
Limbal Dermoid

Introduction: Goldenhar syndrome is an oculoauriculovertebral spectrum attributed to the developmental anomalies of the first and second brachial arches. Its typical presentation in children with hemifacial microsomia poses a dual challenge for the anaesthesiologist on account of difficult airway often compounded with systemic abnormalities. Case report: We describe a case report wherein a 5 year female presented to the oculoplastic clinic of our hospital for surgical removal of limbal dermoid under general anaesthesia. Airway examination revealed classical facial asymmetry with underdevelopment of jaw bone coupled with protruding incisors. A predicted difficult airway, more so in a child led us to choose an anaesthesia technique with preservation of spontaneous breathing and planned use of supraglottic device in the form of an I Gel for airway management. Conclusion: The aim of this case report is to highlight the anaesthetic implications of this not so uncommon entity presenting to ophthalmology and ENT clinics. A thorough preoperative assessment, adequate preparedness and alternative plans are keys for successful airway management in such syndromic children. Keywords: Goldenhar syndrome, hemifacial microsomia, I Gel

scholarly journals Đặc điểm bệnh u nguyên bào gan và kết quả điều trị ở trẻ em tại bệnh viện Nhi Đồng 2

2020 ◽  
Author(s):  
Ngọc Phú Đặng
Keyword(s):  
Survival Rate ◽  
Liver Transplant ◽  
Clinical Symptoms ◽  
Treatment Protocol ◽  
Female Ratio ◽  
Number Of Patients ◽  
Response To Chemotherapy ◽  
Right Lobe ◽  
The Right ◽  
Male To Female

CHARACTERISTICS AND TREATMENT OF HEPATOBLASTOMA IN CHILDREN AT PEDIATRIC HOSPITAL 2 Objective: To determine the epidemiological, clinical, paraclinical characteristics and evaluate the result in treatment of hepatoblastoma (HB) at Department of Hematology-Oncology, Children’s Hospital 2 from January 2011 to end of May 2019. Method: Cases series study in combination of retrospective and prospective. Results: From January 2011 to end of May 2019, there were 67 patients diagnosed with HB. The mean age at diagnosis was 22.7 ± 22.9 months with the most prevalent age group ranging from 6 months to 3 years. The male to female ratio was 1.8/1. The most common clinical symptoms were abdominal distention and hepatomegaly, approximately 7.5% HB cases were detected accidentally by ultrasound. Nearly 60% and 80% patients presented with anemia and thrombocytosis at admission, respectively.Almost tumors were unifocal locating in the right lobe of the liver and 58.2% cases belonged to standard risk group. Assessing treatment protocol in 54 HB patients demonstrate that number of patients undergoing hepatectomy after preoperative chemotherapy accounted for 82%. The most frequent acuteside effects after chemotherapy were myelotoxicity and infection. The proportion of fatal and relapsed cases was 31.5% and 12.9% respectively. Overall and event-free survival rate of the study after 3 years was 65.7% and 68.1% individually. Conclusion: Hepatoblastoma is a rare malignant childhood disease, pretty good response to chemotherapy followed by surgery. However mortality rate is rather high compared to worldwide reasearchs. Thus development of liver transplant is necessary to improve survival rate. Keywords: Hepatoblastoma, chemothearapy, surgery, liver transplant.

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