scholarly journals Familial Aggregation in Idiopathic Subglottic Stenosis

2020 ◽  
Vol 163 (5) ◽  
pp. 1011-1017
Author(s):  
Virginia E. Drake ◽  
Alexander Gelbard ◽  
Nara Sobriera ◽  
Elizabeth Wohler ◽  
Lynne L. Berry ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Familial Aggregation ◽  
Tertiary Care ◽  
Positive Family History ◽  
Disease Onset ◽  
Subglottic Stenosis ◽  
Patient Demographics ◽  
The North ◽  
Familial Clustering ◽  
Tertiary Care Centers

Objective To evaluate inheritance patterns and define the familial clustering rate of idiopathic subglottic stenosis (iSGS). Study Design Retrospective observational study. Setting International multicenter collaborative of >30 tertiary care centers. Methods Patients with a clinically confirmed iSGS diagnosis within the North American Airway Collaborative’s iSGS1000 cohort consented between 2014 and 2018 were eligible for enrollment. Patient demographics and disease severity were abstracted from the collaborative’s iSGS longitudinal registry. Pedigrees of affected families were created. Results A total of 810 patients with iSGS were identified. Positive family history for iSGS was reported in 44 patients in 20 families. The rate of familial clustering in iSGS is 2.5%. Mean age of disease onset is 42.6 years. Of the 44 patients with familial aggregation of iSGS, 42 were female and 2 were male; 13 were mother-daughter pairs and 2 were father-daughter pairs. There were 3 sister-sister pairs. There was 1 niece-aunt pair and 2 groups of 3 family members. One pedigree demonstrated 2 affected mother-daughter pairs, with the mothers being first-degree paternal cousins. Inheritance is non-Mendelian, and anticipation is present in 11 of 13 (84%) parent-offspring pairs. The mean age of onset between parents (48.4 years) and offspring (36.1 years) was significantly different ( P = .016). Conclusion This study quantifies the rate of familial clustering of iSGS at 2.5%. Inheritance is non-Mendelian, and disease demonstrates anticipation. These data suggest that there may be a genetic contribution in iSGS.

scholarly journals A study of migraine cases in a tertiary care hospital neurology outpatient department: demography, sub classification and clinical features

2018 ◽  
Vol 6 (12) ◽  
pp. 3872
Author(s):  
Selvaraj C. ◽  
Sivakumar S.
Keyword(s):  
Migraine Without Aura ◽  
Age Of Onset ◽  
International Headache Society ◽  
Tertiary Care ◽  
Positive Family History ◽  
Outpatient Department ◽  
Specific Reference ◽  
Care Hospital ◽  
Headache Clinic ◽  
One Year

Background: Recurrent headache disorders impose a substantial burden on headache sufferers, family and society. In India, 15 to 20% of people suffer from migraine with an adult female: male ratio of 2:1. This study has been done with an aim at documenting the different types of migraine, their clinical presentations among patients presented to the Headache clinic, Neurology outpatient Department, Government Rajaji Hospital, Madurai during a one year period.Methods: The patients registered at Headache clinic, Neurology outpatient Department, Government Rajaji Hospital, Madurai during one year period between the March 2009 and February 2010 with the diagnosis of migraine as per International Headache Society 2004 criteria were taken for this study. The clinical material was collected from the records and by patient interviews with a detailed pre-prepared proforma. The various parameters of the patients were compared, classified and analysed with specific reference to national and international studies.Results: Migraine is the commonest type of headache comprising of about 76% of total cases of headache. Migraine without aura (48%) was more common than migraine with aura (32%). Female preponderance was noticed in all subtypes of migraine, age of onset being in 2nd and 3rd decade for majority of the subgroups of migraine, with positive family history in 45% of cases, with predominant unilateral in presentation and temporal in location, lasting for 12 to 24 hours in majority of cases.Conclusions: Migraine is the commonest type of headache in patients observed in this study. Among subtypes migraine without aura is the commonest. Second and third decade is the commonest age group of onsets.

scholarly journals A clinico-epidemiological study of psoriasis patients with moderate to severe plaque type in tertiary care centre in South India

2020 ◽  
Vol 7 (1) ◽  
pp. 1
Author(s):  
Suganya Sekar ◽  
Samuel J. Daniel
Keyword(s):  
Quality Of Life ◽  
Family History ◽  
Age Of Onset ◽  
Tertiary Care ◽  
Positive Family History ◽  
Severe Psoriasis ◽  
Tertiary Care Centre ◽  
Plaque Type ◽  
The Mean

<p class="abstract"><strong>Background:</strong> Psoriasis is a chronic disorder with the most common manifestation being the plaque-type. Nearly 20% of the plaque type suffer from a disease of moderate to severe intensity with immense effect on the quality of life. Aim was to study the clinical, socio-economic and demographic characteristics of patients with moderate to severe plaque type of psoriasis.</p><p class="abstract"><strong>Methods:</strong> This was an observational study conducted in about fourty patients diagnosed with moderate to severe plaque type of psoriasis based upon the clinical history, morphology of the lesions and assessed using psoriasis area and severity index (PASI), dermatology life quality index (DLQI) scoring and for comorbidities. Data was compiled and analyzed with statistical package for social science (SPSS) Version 20.0.</p><p class="abstract"><strong>Results:</strong> Mean age was 37.43±10.1 years. 22 were males (55%) and 18 were females (45%). The mean duration was 8.93 years and 15% had family history. The mean age of onset was earlier in the females (20.23 years) with a positive family history, as compared to males (25.36 years). About 62.5% had moderate psoriasis and 37.5% had severe psoriasis. At the baseline the PASI score was 31.98±6.08 and DLQI score was 36. About 67.5% had nail changes and 10% had psoriatic arthritis. Almost in half (47.5%) the duration of the disease was 1 to 5 years and scalp (32.5%) the most common initial site of involvement. Various comorbidities were documented, 72% in moderate psoriasis and 73.33% in severe psoriasis with dyslipidemia (67.5%) being commonest.</p><p class="abstract"><strong>Conclusions:</strong> Patients with moderate to severe psoriasis mostly have a low quality of life with multiple significant co-morbidities that increases the risk for morbidity and mortality.  </p>

FEMALES HAVE EARLIER DISEASE ONSET THAN MALES AMONG HLA-CW6 POSITIVE PSORIASIS PATIENTS

2021 ◽  
pp. 1-2
Author(s):  
Akhilesh Behra
Keyword(s):  
Age Of Onset ◽  
Care Center ◽  
Tertiary Care ◽  
Disease Onset ◽  
Cross Sectional Study ◽  
P Value ◽  
Cross Sectional ◽  
Male And Female ◽  
Female Patients ◽  
Males And Females

Background- Psoriasis is a chronic inammatory relapsing skin disorder. Environmental and genetic factors play an important role in the development of disease. HLA-Cw6 most strongly associated with disease. There is also a difference in HLA-Cw6 positivity in respect to gender, which affect occurrence of disease in males and females. Aims & Objectives- This study was aimed to determine the association of HLA-Cw6 positive and negative psoriasis individuals had any signicant differences in respect to disease onset among male and female Materials & Methods- An Institute based Cross sectional study was done in a tertiary care center in eastern India. All patients attending skin OPD were included in the study. Detailed history and blood samples were collected from patients. HLA-Cw6 typing has done by sequence-specic PCR method. Results- HLA-Cw6 positive female patients had a signicantly early age of onset than male patients (p value-0.009334) (20.88 vs. 27.91yr), while HLA-Cw6 negative patients did not show any signicant difference of age of onset between male and female ( p value- 0.406905) Conclusion- Although men are more commonly affected than female, HLA-Cw6 positive psoriasis female patients show earlier disease onset. This results show that genetic variations in terms of HLA-Cw6 are reected in the age of onset among males and females.

scholarly journals Clinical profile of diabetes in young adults aged 15 to 30 years

2019 ◽  
Vol 6 (5) ◽  
pp. 1466
Author(s):  
Jimnaz P. A. ◽  
Nishad N. ◽  
Harris P.
Keyword(s):  
Age Of Onset ◽  
Total Cholesterol Level ◽  
Microvascular Complications ◽  
Tertiary Care ◽  
Positive Family History ◽  
Clinical Profile ◽  
Diabetic Patients ◽  
Tertiary Care Centre ◽  
Cross Sectional ◽  
The Mean

Background: There is a shift in age of onset of diabetes to a younger age in the recent years. There are very few data available on diabetes in the youth. Hence the study has been undertaken. Objective of the study is to describe the clinical profile of young diabetics and to estimate burden of selected end organ complications at the time of study.Methods: A hospital based Cross sectional study was conducted at a tertiary care centre among 75 young diabetic patients (aged 15-30 years). After taking informed consent, detailed history clinical examination, biochemical investigations like FBS and 2 hours PPBS, HbA1c, lipid profile, screening for neuropathy, retinopathy and nephropathy were done.Results: The mean age of the study population was 26.35±3.8 years, majority were males (62.7 %), 77.3% have positive family history. Mean BMI was 24.8±4.6 kg/m2, 45.3% were overweight ,20 % were obese. The mean FBS levels was 216.63±73.46 mg/dl, 2 hr PPBS 261.51±80.0 mg/dl and mean HbA1c 8.66±1.34 %. The total cholesterol level was higher in 46.7%, with mean of 198.4±21.0. Mean triglyceride level was 136.99±38.9. Nephropathy was present in 25.3%, retinopathy in 13.3% and neuropathy in 9.3 % of the patients. 30.6% had at least one of the three complications. SBP was associated with neuropathy(p=0.030), DBP with retinopathy(p=0.029) and neuropathy(p=0.007) and high FBS levels with retinopathy(p<0.001) and neuropathy(p<0.001).Conclusion: Microvascular complications in young diabetes is alarmingly high. Regular screening, early detection, adequate control of FBS and BP may improve quality of life.

scholarly journals Demographic profile of facial fractures in the Punjab population: a pilot study

2020 ◽  
Vol 7 (9) ◽  
pp. 3538
Author(s):  
Manish Munjal ◽  
Sonika Kanotra ◽  
Parth Chopra ◽  
Shubham Munjal ◽  
Hemant Chopra ◽  
...  
Keyword(s):  
Traffic Accidents ◽  
Road Traffic ◽  
Tertiary Care ◽  
High Rate ◽  
Facial Fractures ◽  
Facial Skeleton ◽  
Medical College ◽  
The North ◽  
Indian State ◽  
Tertiary Care Centers

Background: Trauma units of tertiary care centers of the north Indian state of Punjab are occupied with young individuals with a passion for driving on full acceleration. There is therefore a high rate of road traffic accidents with and fractures of the facial skeleton are frequently noted .This is noted more so in the male gender.Methods: A retrospective study of the records of 61 subjects admitted under Otolaryngology and Maxillofacial trauma units, during a period of 2 years (August 2013-August 2015) at Dayanand Medical College and hospital were analysed.Results: Males outnumbered the females in the ratio of 5:1. Maximum, 54% were seen in the age group 21-30 years and minimum at the extremes of age. The commonest cause of fracture was road-side accidents which was observed in 72% of patients. In 15% these were due to assaults, in 8% due to falls and only in 3.2% due to sports injury.Conclusions: Facial fractures are recorded more in middle aged males with vehicular trauma being the main aetiology.

Study of vitiligo at a tertiary care hospital

2021 ◽  
Vol 11 (2) ◽  
pp. 112-114
Author(s):  
P Ravindra Kumar ◽  
Keyword(s):  
Family History ◽  
Tertiary Care Hospital ◽  
Age Of Onset ◽  
Tertiary Care ◽  
Age At Onset ◽  
Positive Family History ◽  
Care Hospital ◽  
Morphological Pattern ◽  
Hla Antigen ◽  
Triggering Factor

Background: Vitiligo is a common acquired, progressive, multifactorial, depigmenting disorder characterized by the appearance of circumscribed white macules varying patterns, varying from small macules with scalloping borders to near total depigmentation of body, supposed to be due to chronic, progressive loss of functional melanocytes in the epidermis. This study was aimed to study vitiligo in our tertiary care hospital. Material and Methods: This prospective, observational and descriptive study was conducted in OPD patients clinically diagnosed as vitiligo during study period. Results: A total of 300 patients were included in the study after applying inclusion and exclusion criteria. Among these 179 (59.67%) were females and 121 (40.33%) were males. The female to male ratio was 1.5:1. The age at onset was found to be in the 11-20 age group in 104 (34.5%) patients. Most common duration was noted as between 1 to 5 years, 169 (56.5%) patients. A positive family history was present in 62 (20.5 %) patients In 67 patients triggering factor was noted. Koebner’s phenomenon was noted in 62 (22.2%) patients while leucotrichia was seen in 33 (11 %) patients in our study. Most common site affected was lower limb in 204 patients (68.17%), followed by upper limb in 194 (64.67%) patients. Clinically most common morphological pattern was vitiligo vulgaris noted in 52.5% patients. Acrofacial, segmental, universal, mucosal patterns were noted in 23.83 %, 7.67 %, 5.67 %, 1 % patients respectively. Conclusion: Vitiligo has a multifactorial origin, unpredictable triggers and progress of disease. Early age of onset, family history, HLA antigen, presence of leucotrichia, other skin problems are predictors for poor prognosis.

scholarly journals A Psoriatic Arthritis Patient with Multiple Rare Complications – case report and review of literature.

Pulse ◽  
2014 ◽  
Vol 5 (2) ◽  
pp. 48-53
Author(s):  
NS Afsar ◽  
S Mahmud ◽  
RJ Tamanna ◽  
MA Ahmed
Keyword(s):  
Psoriatic Arthritis ◽  
Age Of Onset ◽  
Severe Aortic Stenosis ◽  
Tertiary Care ◽  
Positive Family History ◽  
Skin Lesions ◽  
Rapid Progression ◽  
Care Hospital ◽  
Severity Of The Disease ◽  
Hands And Feet

A 28 year old male patient of psoriasis was admitted in a tertiary care hospital of Bangladesh with typical skin lesions for 18 years, nail changes for 16 years, arthritis for 12 years and eye changes for 3 years. In addition he had other rare extra articular complications like severe aortic stenosis, moderate aortic regurgitation and mild mitral regurgitation. He had a positive family history of psoriasis. HLAB27 is positive and X-ray of hands and feet showed classical findings of psoriatic arthritis. We presented the case to show the early age of onset, severity of the disease with rapid progression and multiple extra articular complications. DOI: http://dx.doi.org/10.3329/pulse.v5i2.20266 Pulse Vol.5 July 2011 p.48-53

Folnegović & Folnevogić-Šmalc's “Schizophrenia in Croatia: Inter-regional Differences in Prevalence and a Comment on Constant Incidence”

1994 ◽  
Vol 164 (1) ◽  
pp. 97-100 ◽  
Author(s):  
Brian Cooper ◽  
John M. Eagles
Keyword(s):  
Age Of Onset ◽  
Positive Family History ◽  
Disease Onset ◽  
Incidence Rates ◽  
Population Characteristics ◽  
Reproduction Rate ◽  
Study Objective ◽  
Admission Rates ◽  
Manic Depressive ◽  
Economic Migration

“Study objective - The aim was to examine why differences exist in schizophrenia prevalence and risk in some areas of Croatia, when schizophrenia incidence rates do not appear to vary. Design - Areas differing by schizophrenia admission rates in patients born in 1953 and admitted by the age of 31 years are compared using a number of indicators relating both to general population characteristics and to those of schizophrenic cases in these populations. Setting - The study covers the whole of Croatia (4 601 469 inhabitants, 1981 census). Subjects - By the age of 31 years, out of 80 445 individuals born in Croatia in 1953, 464 were admitted for and diagnosed as having schizophrenia. Main results - Admission risk rates are higher in those parts of Croatia where emigration rates are high and lower where immigration rates are high. There is also a positive correlation with schizophrenia prevalence and manic depressive psychosis rates. There is a negative correlation with age of onset of schizophrenia and with schizophrenic reproduction rates. In the study areas, hospital incidence rates are not significantly different. Conclusions - Economic migration and negative selection in the domestic population are likely to be the most significant factors leading to differences in schizophrenia prevalence. The approximately equal incidence rates in the population, with different prevalence and admission risks, are linked to differences in the disease onset among schizophrenics with a positive family history for this condition. In other words, these patients, when part of the population with a greater prevalence and a greater hereditary loading, experience the onset more often at an earlier age. Thus they have a lower reproduction rate than in a population with a lower prevalence and a lower hereditary loading. Thus incidence rates in populations with different prevalences and different hereditary loads are maintained roughly equal over generations.”

scholarly journals Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India

2021 ◽  
Author(s):  
Valakunja H. Ganaraja ◽  
Kiran Polavarapu ◽  
Mainak Bardhan ◽  
Veeramani Preethish-Kumar ◽  
Shingavi Leena ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Positive Family History ◽  
Disease Onset ◽  
Compound Heterozygous ◽  
Loss Of Function ◽  
Limb Weakness ◽  
Duration Of Symptoms ◽  
Large Deletions ◽  
Scapular Winging ◽  
Initial Symptoms

AbstractCalpainopathy is caused by mutations in the CAPN3. There is only one clinical and genetic study of CAPN3 from India and none from South India. A total of 72 (male[M]:female [F] = 34:38) genetically confirmed probands from 72 independent families are included in this study. Consanguinity was present in 54.2%. The mean age of onset and duration of symptoms are 13.5 ± 6.4 and 6.3 ± 4.7 years, respectively. Positive family history occurred in 23.3%. The predominant initial symptoms were proximal lower limb weakness (52.1%) and toe walking (20.5%). At presentation, 97.2% had hip girdle weakness, 69.4% had scapular winging, and 58.3% had contractures. Follow-up was available in 76.4%, and 92.7% were ambulant at a mean age of 23.7 ± 7.6 years and duration of 4.5 years, remaining 7.3% became wheelchair-bound at 25.5 ± 5.7 years of age (mean duration = 13.5 ± 4.6), 4.1% were aged more than 40 years (duration range = 5–20). The majority remained ambulant 10 years after disease onset. Next-generation sequencing (NGS) detected 47 unique CAPN3 variants in 72 patients, out of which 19 are novel. Missense variants were most common occurring in 59.7% (homozygous = 29; Compound heterozygous = 14). In the remaining 29 patients (40.3%), at least one suspected loss of function variant was present. Common recurrent variants were c.2051–1G > T and c.2338G > C in 9.7%, c.1343G > A, c.802–9G > A, and c.1319G > A in 6.9% and c.1963delC in 5.5% of population. Large deletions were observed in 4.2%. Exon 10 mutations accounted for 12 patients (16.7%). Our study highlights the efficiency of NGS technology in screening and molecular diagnosis of limb-girdle muscular dystrophy with recessive form (LGMDR1) patients in India.

Sign in / Sign up

Export Citation Format

Share Document