scholarly journals Families with neurocutaneous syndromea - Report of two cases

2013 ◽  
Vol 22 (1) ◽  
pp. 102-107
Author(s):  
Radheshyam Saha ◽  
Reaz Mahmud ◽  
Mohammad Zaid Hossain ◽  
Prodip Kumar Sarkar

 CorrigendumThe Article "Families with neurocutaneous syndromea - Report of two Cases" was published in JDMC Vol.22(1) in April 2013. The name of one of the authors was written 'Prodip Kumar Sarker', which is to be read as 'Prodip Kumar Sarkar'. (4th August 2014)Neurocutaneus syndrome is inherited as autosomal dominant condition.Tuberous sclerosis is one of the important neurocutaneous disorder characterized by development of widespread hamartomatous lesions involving skin, brain, kidney, retina etc. Recently we came across two cases of tuberous sclerosis. Both cases presented with status epilepticus and had a positive family history but the first case also had family history of neurofibromatosis. DOI: http://dx.doi.org/10.3329/jdmc.v22i1.15709 J Dhaka Medical College, Vol. 22, No. 1, April, 2013, Page 102-107

2016 ◽  
Vol 12 (6) ◽  
pp. 97
Author(s):  
Abba Kaka H.Y ◽  
Salissou L. ◽  
Amza A. ◽  
Daou M.

Aniridia syndrome is a genetic anomaly affecting all ocular structures; it is transmitted by an autosomal dominant mode. In its isolated form aniridia is characterized by a hypoplasia of the iris frequently associated with other ocular anomalies. It the syndromic form it is associated to other systemic abnormalities. Authors are here reporting a case of aniridia associating: a corneal pannus, total aniridia, lens ectopia, and cataract found in a 14 years old girl. She also presented an atopic background with a positive family history of atopia. She is issued from a first degree consanguineous marriage. The management was multidisciplinary. In ophthalmology she underwent an intra-capsular extraction of the lens in both eyes with no intra-ocular lens implantation. Dermatological management was treatment of cuteanous lesions with emollients, corticoids and antihistamines drugs and ointments.


2020 ◽  
Vol 7 (3) ◽  
pp. 446
Author(s):  
Venugopal Margekar ◽  
Shweta Thakur ◽  
O. P. Jatav ◽  
Pankaj Yadav

Background: A significant percent of cardiovascular event occurs without well-known modifiable risk. A new tool for early identification for atherosclerosis is required for early intervention. Aims and objectives of the study was to study the risk factors for CAD and its correlation with CIMT.Methods: One hundred and forty subjects were studied for the risk factors of CAD in Department of Medicine of G.R. Medical College, Gwalior from 2012 to 2013. Out of 140 subjects, 100 were patients having CAD and 40 age matched subjects were included as control group. Data was also recorded from their offspring. High resolution B mode ultrasonography was performed to assess CIMT of carotid arteries. The maximum CIMT of any one side of carotid artery was taken for study.Results: CAD was more prevalent among males (78%). Majority of the offspring of cases had age between 28-42 years and majority were male (73%). Most common risk factors for CAD was dyslipidemia (48%), hypertension (24%), diabetes (12%) and smoking (21%), whereas in offspring’s of CAD patients, dyslipidemia was seen in 28%, hypertension in 3%, diabetes and tobacco smoking in 12% and 24% respectively. The CIMT of CAD patients was significantly increased with increasing the number of risk factors and the same pattern was also seen in controls.  The CIMT of asymptomatic offspring’s having positive family history was significantly more than the asymptomatic offspring without positive family history of CAD.Conclusions: CIMT measurements can be used as a surrogate marker of atherosclerosis as it has showed a direct link with number of risk factors of CAD. 


1988 ◽  
Vol 97 (6_suppl3) ◽  
pp. 8-10 ◽  
Author(s):  
Naoaki Yanagihara ◽  
Eiji Yumoto ◽  
Toyohiro Shibahara

Of 625 patients with Bell's palsy, 26 from 25 families (4.0%) had a positive family history of Bell's palsy. Genealogic analysis of the families indicated the mode of inheritance of familial Bell's palsy possibly to be autosomal dominant inheritance with low penetration. The prognosis of familial Bell's palsy was generally favorable. Age, sex, recurrence, and inherited factors are discussed.


Author(s):  
Kranti Garg ◽  
Jai Kishan Karahyla

Background: Everything that wheezes is not asthma. In patients of tuberculosis (TB), wheezing can be because of bronchial asthma, or many other causes. Asthma and other causes of wheezing need to be differentiated, as the treatment should be planned accordingly.Methods: Patients of active/quiescent tuberculosis who presented to Department of Tuberculosis and Chest Diseases, Government Medical College, Patiala, Punjab, India, with complaints of breathlessness and had rhonchi on examination were subjected to bronchodilator reversibility testing to prove if they were suffering from concomitant asthma. Patients thus found to have tuberculosis along with asthma were analyzed with respect to age, sex, rural urban differences and timing of diagnosis of either disease. Patients who developed asthma after tuberculosis were further analyzed for duration between completion of anti-tubercular treatment (ATT) and onset of asthma, family history of asthma and correlation of radiological manifestations and lung function measurements. Aim was to find association, if any, between tuberculosis and asthma.Results: Over 6 months, 69 patients of tuberculosis along with asthma were found. Only 21/69 (30.4%) patients developed tuberculosis after asthma. 48/69 (69.6%) patients developed asthma after tuberculosis. Majority (25/48=52.1%) of them developed asthma within 5 years of completion of ATT (p=0.020). Only 2/48 (2.9%) patients had a positive family history for asthma. Lung function abnormalities correlated with the extent of radiological involvement in these patients who developed asthma after tuberculosis (p ≤0.0001).Conclusions: Patients of active/quiescent tuberculosis who present with breathlessness and have rhonchi on examination should be treated for asthma only after confirmation of the diagnosis, as there can be other reasons for the same.


Author(s):  
Sahithi Chapalamadugu ◽  
A. Vijaymohan Rao

<p class="abstract"><strong>Background:</strong> Amyloidosis refers to abnormal extracellular tissue deposition of one of the biochemically unrelated proteins that share certain characteristic staining properties such as apple green birefringence of congo red stained preparations under polarized light. Amyloid deposition may occur in many organs of the body (systemic amyloidosis) or may be restricted to one tissue site (localized amyloidosis).</p><p class="abstract"><strong>Methods:</strong> Observational study was conducted in the Department of Dermatology, Narayana Medical College and Hospital, Nellore. In this study of 70 patients a complete history and clinical data was taken including details of presenting complaints, age, site, duration, course of the disease was recorded. Special importance was given to the friction history using different scrubs, family history and photo exposure.<strong></strong></p><p class="abstract"><strong>Results:</strong> Out of 70 patients of cutaneous amyloidosis 55 patients (78.6%) were of macular amyloidosis. Male:female ratio was 1:2.3. Majority of the patients were housewives (42.8%) and 28.5% of agriculturists. Majority of the patients (40) with cutaneous amyloidosis had disease duration between 2-5 years. In 70 patients of cutaneous amyloidosis 64.3% were symptomatic. 92% patients give history of using scrub. 50% of patients had history of photo exposure. Positive family history was seen in 7 patients (10%) and most common site involved was extensor aspect of arm.</p><p class="abstract"><strong>Conclusions:</strong> From our study it can be concluded that cutaneous amyloidosis is more common among females, most patients are symptomatic, majority have history of using scrub and photo exposure and most common site involved is extensor aspect of arm.</p><p class="abstract"> </p>


2018 ◽  
Vol 30 (2) ◽  
pp. 79-82
Author(s):  
Mst Musarrat Sultana ◽  
Md Shafiqul Islam ◽  
Md Sanaul Haque Mia

Hereditary spherocytosis (HS) is a familial hemolytic disorder with marked heterogeneity of clinical features, ranging from asymptomatic condition to a fulminant hemolytic anemia. Although a positive family history of spherocytosis increases the risk for this disorder, it may be sporadic in some case. A 22-month old girl was admitted in Rajshahi Medical College Hospital with pallor and jaundice. Her parents gave history of repeated episodes of pallor and jaundice since 8 month of age with negative family history. Blood film showed plenty of spherocytes, reticulocytosis of 15.0%, negative direct antiglobulin test& positive osmotic fragility test. She was managed conservatively on nutritional supplements& one unit of blood transfusion. To the best of our knowledge, this is the first reported case of hereditary spherocytosis from Rajshahi Medical College Hospital.TAJ 2017; 30(2): 79-82


1974 ◽  
Vol 83 (3) ◽  
pp. 343-346 ◽  
Author(s):  
Jeffrey W. Willbrand ◽  
Joel D. Blumhagen ◽  
Mark May

Twenty-nine cases of Bell's palsy in a single family appear to suggest an autosomal dominant inheritance. In addition, a review of 230 consecutive patients with Bell's palsy revealed a 6% incidence of a positive family history of facial paralysis. These findings implicate inheritance in the etiology of Bell's palsy.


2020 ◽  
Vol 7 (9) ◽  
pp. 1885
Author(s):  
Shaik Ateal Saheb

Background: A febrile convulsion is linked with high temperature but without significant underlying health issues. These occur most often in children aged six months to five years. Most of the convulsions last less than five minutes, and within an hour of the occurrence, the child is entirely back to normal.Methods: Sixty children aged 3 months to 5 years admitted to the emergency pediatric ward with a history of convulsion fever with convulsions, in Narayana Medical College and Hospital were taken up for the study with clinical history, clinical examination, laboratory Investigations.Results: Among 60 children in the study group, 15 (25%) of them were aged between 3 months to 12 months, 21 (35%) of them were between 13 months to 24 months. Gender 36 (60%) are male children. 24 (40%) are female children. Family history of convulsions was positive in 18 (30%) of the 60 (100%) cases, and 7 had family history of epilepsy. 42 (70%) are negative. Most of the cases (85%) showed no growth in blood culture.Conclusions: Blood culture should be performed in all children by febrile convulsions, especially those under the stage of two years. Streptococcus pneumonia was the organism isolated from respiratory tract infection in a child with febrile convulsion with significant bacteremia. The symptoms that present can be as harmless as rhinorrhea or cough. Children with a positive family history of afebrile convulsion should be closely monitored and test, as they can develop epilepsy later.


2021 ◽  
Vol 15 (7) ◽  
pp. 2062-2067
Author(s):  
Hafiz Muhammad Tauseef ◽  
Hafiz Muhammad Waqas Siddque ◽  
Muhammad Farhan Akhtar ◽  
Abu Hurera

Background: Currently, there is a growing concern towards epidemiological and clinical research on functional gastrointestinal disorders. Irritable Bowel Syndrome is defined as a functional gastrointestinal disorder characterized by abdominal discomfort, abdominal pain, and altered bowel movements. It is the most common gastrointestinal disorder. It can be diarrhea-predominant IBS, constipation-predominant IBS, and mixed type IBS. Objective: The objective of this study was to determine the frequency of IBS among medical students of Allama Iqbal Medical College and to determine conditions and lifestyle habits that may act as significant risk factors for developing IBS. Methods: A cross-sectional study was conducted for over 5 months. A sample of 323 individuals was studied whereas the sampled individuals were selected using a "stratified random sampling technique". The study was conducted by collecting data through an online questionnaire during the global COVID pandemic. The questionnaire consisted of three parts. The first section consisted of demographic information, the second section consisted of a standard questionnaire determining the risk factors of IBS i.e., personal food and lifestyle habits, and the last section was aimed at determining whether the person was a case of IBS or not using the widely accepted and used “Rome III Criteria” and determining the predominant pattern of IBS. Results: The frequency of IBS was found to be 15.5%. Analysis of collected data revealed that the predictors for IBS were stress and reduced hours of daily sleep. It was also observed that a positive family history of irritable bowel syndrome predisposed the development of IBS in a person. 30% of subjects with a positive family history of IBS had symptoms suggestive of IBS. Conclusion: The study concludes that there is a high incidence of IBS among medical students because they live under higher stress conditions, concerning their academics and professional duty than students and professionals from other educational fields. Keywords: Irritable bowel syndrome, abdominal pain, stress, food consumption.


2013 ◽  
Vol 22 (1) ◽  
pp. 61-66 ◽  
Author(s):  
Suraiya Jabeen ◽  
Musarrat Haque ◽  
Md Johirul Islam ◽  
Mohammad Zaid Hossain ◽  
Atiya Begum ◽  
...  

Objective: The aim of this study was to determine risk factors associated with breast cancer in the National Institute of Cancer Research and Hospital, Dhaka, Bangladesh. Methodology: A case control study was conducted from July 2009 to June 2010, on 262 biopsy proven cases of breast cancer from National Institute of Cancer Research and Hospital and 262 matched controls of acute diseases from Dhaka Medical College Hospital. Religion, residential status and age (±2 years) were matched. Statistical analysis was carried out using conditional logistic regression, odds ratios, chi-square and t- test with SPSS software (V-17). Results: Multivariate analysis showed that higher education (OR=1.72), personal income (OR=5.71), history of induced abortion (OR= 20.62), history of breast feeding (OR= 7.91), OCP users (OR= 1.47), current smokers (OR=6.78), personal history of breast disease (OR=10.99), family history of breast cancer (OR=3.85) and family history of other cancer (OR=2.21) were risk factors for breast cancer. Furthermore, having menarche at an early age (OR=0.35), giving birth to an early age (OR= 0.35), early menopause (OR= 0.22), longer duration of breast feeding (OR=0.30), parity of 2 and more (OR=0.29) and regular physical activity (OR=0.58) were shown to be protective factors. Conclusion: Physical inactivity, being menopause, positive family history of breast cancer and history of induced abortion were found important risk factors. Longer duration of breast feeding should be encouraged for its protective effect. Study revealed that the women who have one or more of the above risk factors should be given special attention for breast cancer prevention DOI: http://dx.doi.org/10.3329/jdmc.v22i1.15628 J Dhaka Medical College, Vol. 22, No. 1, April, 2013, Page 61-66


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