Study of Clinical Features and Diagnosis Pattern of Duchene Muscular Dystrophy in Southern India

Abstract Background Duchene muscular dystrophy (DMD) is an X-linked progressive muscle disorder that is characterized by proximal muscle weakness followed by a premature death in young boys. There is a low index of reports on diagnosis ratio and clinical features in Southern India. Objective The present study aimed to conduct an observational survey on preliminary analysis, family history, associated complaints, and diagnosis ratio of DMD in southern regions of India. Materials and Methods A systematic observation and survey were conducted on clinically confirmed DMD patients registered between 2019 and 2021 through the questionnaire. The questionnaire and pattern of study were identified by exploring published and unpublished studies available from electronic databases and critical assessment criteria considered by physicians. Preliminary analysis such as onset criteria, motor difficulties, milestone delay; family history and consanguinity analysis; chief complaints (ambulatory status, lordosis, respiratory, and cardiac outcomes), associated complaints such as enlarged tongue, oral hygiene, behavioral problems; and other similar parameters were studied. An assessment of the diagnosis rate and pattern was performed. Statistical analysis The data were reviewed and interpreted through statistical methods mean ± standard deviation represented as a percentage. Results In total, 400 DMD patients were included and 250 participated in the study. The onset age group was 2 to 5 years in 37% of the population. Milestone delay was seen in 86%; consanguinity marriage of parents was reported in 39%. Frequent falls were reported in 62% in 5 to 8 years old group. Wheelchair status was reported in 65% in 9 to 12 years old. Cervical and lumbar lordoses were seen in 57 and 69%, respectively, in above 13 years old. Respiratory and cardiac complications were 88 and 78% reported in above 13 years old, respectively. Other major associated complaints such as enlarged tongue were reported in 79%. Fifty-one percent underwent genetic diagnosis and 79% of the population underwent serum creatine phosphokinase (CPK) analysis for the confirmation of DMD. Conclusion In this study population of South India, milestone delay was a major observation. Although there was a slight margin, family history shows “no blood relation among parents” in the majority of the study population. Chief complaints were predominantly severe above 13-year age group population. Serum CPK was the first choice for the first investigation, which is followed by a genetic diagnosis.

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Sympathetic Ophthalmia in Pediatric Age Group: Clinical Features and Challenges in Management in a Tertiary Center in Southern India

Ocular Immunology and Inflammation ◽

10.3109/09273948.2013.841958 ◽

2013 ◽

Vol 22 (5) ◽

pp. 367-372 ◽

Cited By ~ 10

Author(s):

Kshitiz Kumar ◽

Annie Mathai ◽

Somasheila I. Murthy ◽

Subhadra Jalali ◽

Virender Sangwan ◽

...

Keyword(s):

Clinical Features ◽

Sympathetic Ophthalmia ◽

Southern India ◽

Age Group ◽

Pediatric Age ◽

Pediatric Age Group ◽

Tertiary Center

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Metabolic disease and neuromuscular disorders

Inherited Cardiac Disease ◽

10.1093/med/9780198829126.003.0010 ◽

2020 ◽

pp. 287-324

Author(s):

Perry Elliott ◽

Pier D. Lambiase ◽

Dhavendra Kumar

Keyword(s):

Metabolic Disease ◽

Family History ◽

Muscular Dystrophy ◽

Myotonic Dystrophy ◽

Clinical Features ◽

Metabolic Diseases ◽

Neuromuscular Disorders ◽

Muscular Dystrophies ◽

Inherited Metabolic Diseases ◽

Cardiac Symptoms

This chapter covers metabolic diseases and neuromuscular disorders. A number of inherited neuromuscular disorders may manifest with cardiac symptoms or signs. This chapter covers the most common muscular dystrophies with prominent cardiac involvement (including Duchenne, Becker, myotonic dystrophy, Emery–Dreifuss muscular dystrophy (EDMD) 1 and EDMD2, and limb girdle muscular dystrophy 2I along with clinical presentation, family history, and investigations. The chapter then goes on to general issues in inherited metabolic diseases, and their associated cardiac features. Clinical features, diagnosis, and treatment are described for each example.

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Menstruation Among Adolescent Girls Living in Rural Border Areas

International Journal of Medical and Biomedical Studies ◽

10.32553/ijmbs.v4i8.1349 ◽

2020 ◽

Vol 4 (8) ◽

Author(s):

Ritu Gupta ◽

Ravinder K Gupta ◽

Vallabh Dogra ◽

Himani Badyal

Keyword(s):

Abdominal Pain ◽

Menstrual Cycle ◽

Blood Loss ◽

Prospective Study ◽

Adolescent Girls ◽

Common Side Effect ◽

Age Group ◽

Different Types ◽

Study Population ◽

Border Areas

Objective: To study the various beliefs and problems regarding menstruation among adolescent girls living in rural border areas. Design- Prospective study. Setting- Pediatric outpatient clinic. Materials and methods- About 200 adolescent girls (11-19 years) living in rural border areas were enrolled for the study. These girls were asked about menarche, duration of the cycle, amount of blood loss and the various menstrual problems. They were also asked about the various beliefs and myths regarding menstruation. The girls having any illness affecting the menstrual cycle or those suffering from neuropsychiatric disorders were excluded from this study. Results- About 51% of the study population was in the age group 17-18 years. About 43.5% of girls attained menarche at the age of 10-12 years. About 51% of girls did not know about menstruation before menarche. Abdominal pain was the most common side effect seen in 41% of girls during menstruation. About 61% of girls considered themselves unclean during menstruation. Twenty percent avoided schools, 20% avoided kitchen, 12% avoided temples while 10% stayed away from friends/ relatives. Only 33% of girls knew that menstruation stops temporarily after becoming pregnant. Twenty-two percent girls were using sanitary napkins while the rest used different types of clothes during the menstrual cycle. Conclusion- There is a dire need to educate girls regarding menstruation before menarche in the rural border areas. Every mother should discuss in a friendly way regarding various aspects of menstruation.

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Issues of geriatric otolaryngologic emergency have not been widely applied despite increase in geriatric population. (Preprint)

10.2196/preprints.13383 ◽

2019 ◽

Author(s):

Waheed Atilade Adegbiji ◽

Shuaib Kayode Aremu ◽

AbdulAkeem Adebayo Aluko

Keyword(s):

Foreign Body ◽

Head And Neck ◽

Clinical Features ◽

University Teaching ◽

Age Group ◽

Geriatric Population ◽

Female Ratio ◽

Common Diagnosis ◽

Foreign Body Impaction ◽

Nose And Throat

BACKGROUND Issues of geriatric otolaryngologic emergency have not been widely applied despite increase in geriatric population. OBJECTIVE This study aimed at determining prevalence, sociodemographic features, aetiology, clinical features, Complications and sources ofreferral of geriatric otorhinolaryngological, head and neck emergency in our center. METHODS This was a prospective hospital based study of geriatric otorhinolaryngology emergency in the Ear, Nose and Throat Department of Ekiti State University Teaching Hospital. The study was carried out between October 2016 and September 2018. Data were obtained by using pretested interviewers questionnaire.All data were collated and analyzed using SPSS version 18.0. The data were expressed by frequency table, percentage, bar charts and pie charts. RESULTS Geriatric otorhinolaryngology, head and neck emergency accounted for 5.3%. Major prevalence age group was 43.9% in the age group (60-64). There were 38.6% males with male to female ratio of 1:1.5. The main aetiology of geriatric otorhinolaryngology emergency was 29.5% trauma/road traffic accident/foreign body impaction and 25.8% tumour. Main anatomical distribution of geriatric otorhinolaryngology emergency were 38.6% throat diseases and 31.1% ear diseases. The most frequent clinical features were pain in 27.3%, hearing loss in 21.2%, tinnitus in 15.9%, bleeding in 14.4%, difficulty breathing in 12.9% and discharge in 11.4%. Common diagnosis in this study were 15.9% sinonasal tumour, 14.4% upper aerodigestive foreign body impaction, 10.6% earwax impaction and 19.8% otitis externa. Acute presentation (<13 weeks) occurred in 1 week in 74.2% and 2-13 weeks In 19.7%. Commonest time of presentation was daytime in 65.9%. Major sources of referral were 43.2% general practitioner and 31.1% casualty officers. Presentation of geriatric otorhinolaryngology emergency were mainly ear, nose and throat clinic in 59.8% with accident and emergency in 28.8%. Commonest associated comorbid illnesses among the geriatric patients were 18.2% hypertension, 14.4% arthritis and 9.8% diabetes mellitus. CONCLUSIONS Geriatric otorhinolaryngological emergency are common pathology with associated with comorbid illnesses. Detailed clinical assessment are mandatory for effective management outcome.

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Comparison of Prevalence of Periodontitis with Different Indices in Population of District Ghaziabad

Dental Journal of Advance Studies ◽

10.1055/s-0038-1672041 ◽

2016 ◽

Vol 04 (01) ◽

pp. 023-030

Author(s):

Vimal Kumar ◽

Pallak Arora ◽

Manish Khatri ◽

Shivani Sharma ◽

Sumit Malhotra ◽

...

Keyword(s):

Periodontal Disease ◽

Total Population ◽

Age Groups ◽

Cross Sectional Study ◽

Sample Population ◽

Age Group ◽

Cross Sectional ◽

Multi Stage ◽

Younger Age ◽

Study Population

Abstract Objective: To estimate the prevalence of periodontal disease with different indices. Methods & materials: The study population consisted of multistage stratified random sample of 1300 subjects from total population of district Ghaziabad. A cross-sectional study was conducted with multi stage stratified random sampling techniques to select the sample population. The subjects were divided into different age groups and the periodontal assessment was made on the basis of CPITN index and ESI Index. Results: The CPITN has shown to estimate incorrect periodontal disease prevalence because of its underestimation of the disease severity. A huge difference was noticed in the prevalence rate of periodontitis when subjects were examined with ESI index. Conclusion Periodontal disease was found to be highly prevalent in the study population and severity of disease increased with age. More number of subjects in younger age group were found to be healthy.

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Otological manifestation of temporomandibular joint disorder in Ekiti, a sub-Saharan African country

Journal of International Medical Research ◽

10.1177/0300060521996517 ◽

2021 ◽

Vol 49 (2) ◽

pp. 030006052199651

Author(s):

Waheed Atilade Adegbiji ◽

Gabriel Toye Olajide ◽

Anthony Tosin Agbesanwa ◽

Omotola Oluwaseyi Banjo

Keyword(s):

Temporomandibular Joint ◽

Clinical Features ◽

Temporomandibular Joint Disorder ◽

Prehospital Treatment ◽

Muscle Disorders ◽

Joint Disorder ◽

Study Population ◽

Male Patients ◽

Sub Saharan ◽

Nose And Throat

Objective To determine the prevalence, sociodemographic features, and clinical presentation of temporomandibular joint disorder in otorhinolaryngological practice. Methods This prospective hospital-based study involved patients diagnosed with temporomandibular joint disorder in our institution’s ear, nose, and throat department. Data for this study were obtained from the patients using pretested interviewer-assisted questionnaires. Results The prevalence of temporomandibular joint disorder in this study was 1.3%. The study population included 17 (26.2%) male patients with a male:female ratio of 1.0:2.8. Joint disorder accounted for 75.4% of all disorders, while both mastication muscle and joint disorder accounted for 21.5%. A majority of the patients (47.7%) presented between weeks 1 and 13 of the illness. Unilateral temporomandibular joint disorder accounted for 98.5% of all disorders. The main otologic clinical features were earache and a dull tympanic membrane in 100% and 35.4% of patients, respectively. Middle ear assessment revealed type A in 73.8% of patients and type B in 20.0% according to Jerger’s classification system of tympanometry. Most patients (81.5%) were referred by their family physician. All patients had undergone prehospital treatment prior to presentation. Conclusion Temporomandibular joint disorder is a common presentation in medical practice. Common clinical features include ear, joint, and mastication muscle disorders.

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