scholarly journals FREQUENCY OF CLINICAL FEATURES AND CYTOGENETIC DEFECTS IN DOWN SYNDROME DIAGNOSED AT AFIP

2021 ◽  
Vol 71 (Suppl-1) ◽  
pp. S28-31
Author(s):  
Saira Irum ◽  
Helen Mary Robert ◽  
Asad Mahmood ◽  
Rafia Mahmood ◽  
Ayesha Khurshid ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Clinical Features ◽  
Trisomy 21 ◽  
Armed Forces ◽  
Cross Sectional Study ◽  
Banding Technique ◽  
Nasal Bridge ◽  
Cross Sectional ◽  
Cytogenetic Abnormalities ◽  
Conventional Cytogenetic Analysis

Objective: To determine the frequency of clinical features and cytogenetic abnormalities in patients of down syndrome and correlation of cytogenetic abnormalities with clinical features. Study Design: Cross sectional study. Place and Duration of Study: Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi, from Feb 2017 to Feb 2018. Methodology: Total 163 patients with clinical suspicion of Down syndrome were selected by non-probability convenient sampling and diagnosis was confirmed by conventional cytogenetic analysis using Giemsa trypsin banding technique. Clinical features were assessed and frequency of different cytogenetic abnormalities were noted. Results: Out of total 163 patients, 96 (59%) were male and 67 (41%) were female. Median age of the patients was 11 months. Trisomy 21 was detected in 158 (96.9%), Robertsonian translocation in 4 (2.4%) and mosaicism in 01 (0.6%) patient. The predominant clinical features observed were slaunted with eyes, epicanthic folds, depressed nasal bridge and protruding tongue. Conclusion: Trisomy 21 is the most common cytogenetic abnormality observed in patients of down syndrome.

scholarly journals CYTOGENETIC ANALYSIS OF PATIENTS WITH AMBIGUOUS GENITALIA

2021 ◽  
Vol 71 (6) ◽  
pp. 2161-65
Author(s):  
Sara Ali Zaidi ◽  
Asad Mahmood ◽  
Rafia Mahmood ◽  
Aamna Latif ◽  
Helen Mary Robert ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Cytogenetic Analysis ◽  
Disorders Of Sex Development ◽  
Armed Forces ◽  
Ambiguous Genitalia ◽  
Cross Sectional Study ◽  
Banding Technique ◽  
Adrenal Hyperplasia ◽  
Cross Sectional ◽  
Sex Development

Objective: To determine the magnitude and classification of cases of ambiguous genitalia presenting to our setup. Study Design: Cross-sectional study. Place and Duration of Study: Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi Pakistan, from Aug 2018 to Feb 2019. Methodology: All the patients with ambiguous genitalia referred for cytogenetic analysis, were included in the study. The patients were subjected to a detailed history and physical examination. The record of radiological investigations was were obtained. Cytogenetic analysis was performed using the conventional G-banding technique. Hormonal testing included 17- hydroxyprogesterone (17-OHP) levels was also performed. Results: Fifty-one cases of ambiguous genitalia were studied. The median age was 15 months. Thirty-three patients (64.7%) had a 46XY karyotype, 17 (33.3%) had a 46XX karyotype while 1 (1.9%) had 45X/46, XY mosaic karyotype. Thirty patients (58.8%) were products of consanguineous marriage. Congenital adrenal hyperplasia was diagnosed in 12 cases (70.5%) of 46 XX karyotype and in 3 cases (9%) of 46XY karyotype. Conclusion: Ambiguous genitalia, currently categorized as disorders of sex development, are not uncommon in our populartion. Increased awareness and early diagnosis are crucial to prevent life threatening complications of congenital adrenal hyperplasia, to determine sex of rearing, and to counsel the parents or patients.

CLINICAL FEATURES AND COAGULATION ABNORMALITIES IN CHILDREN WITH SEPSIS AT DANANG HOSPITAL FOR WOMEN AND CHILDREN

2018 ◽  
pp. 97-103
Author(s):  
Huu Hoi Vo ◽  
Binh Bao Son Bui
Keyword(s):  
Septic Shock ◽  
Clinical Features ◽  
Cross Sectional Study ◽  
Severe Thrombocytopenia ◽  
Cross Sectional ◽  
Hematologic Tests ◽  
Coagulation Abnormalities ◽  
Women And Children ◽  
Key Words Coagulation ◽  
Coagulation Dysfunction

Objective: To determine the relationship between coagulation abnormalities and main clinical features, and hematologic tests. Methods: A descriptive cross-sectional study was conducted in 65 children with sepsis at the PICU, Da Nang Hospital for Women and Children from April 2012 to June 2013. Results: The frequency of internal hemorrhage in septic shock children was significantly higher than in children with sepsis (p < 0.001). The rate of thrombocytopenia was 30.8%, in which 10.8% of the children had severe thrombocytopenia (<50 x 109/l). Hypofibrinogenemia was observed in 30.8% of the patients, in which severe hypofibrinogenemia (≤ 1 g/l) was observed in 16.9% of the children. The frequency of reduced prothrombin ratio was 40%, in which 23.1% of the patients had prothrombin ratio < 50%. 35.4% of the patients had rAPTT > 1.15. Positive D-dimer and DIC were observed in 53.8% and 20% of the patients, respectively. Hemostatic changes showed the significant relationship with hemorrhage and the mortality of sepsis. Conclusion: Children with sepsis, especially septic shock were at high risk of coagulation dysfunction and coagulation abnormalities showed the correlation with hemorrhage and the mortality of sepsis. Key words: coagulation abnormalities, sepsis, children

scholarly journals Knowledge of breast cancer among medical students in Syrian Private University, Syria: a cross-sectional study

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hlma Ismail ◽  
Mosa Shibani ◽  
Hanaa Wael Zahrawi ◽  
Ali Fouad Slitin ◽  
Mhd Amin Alzabibi ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Risk Factors ◽  
Medical Students ◽  
Clinical Features ◽  
Smoking Status ◽  
Private University ◽  
Cross Sectional Study ◽  
General Information ◽  
Sectional Study ◽  
Cross Sectional

Abstract Background Breast cancer is the most common cancer among women and the second leading cause of cancer death globally. Since early diagnosis is crucial to reducing mortality, high levels of knowledge regarding general information, risk factors, and symptoms are required among healthcare professionals to deliver breast cancer care. This study aimed to determine Syrian medical students’ knowledge about breast cancer in the fields of general knowledge, common clinical features, and risk factors. Methods This cross-sectional study was conducted at the Syrian Private University in October 2019 (Breast Cancer Awareness Month), Damascus, during the Syrian war crisis. Data were collected through self-administered surveys and analyzed using the Statistical Package for Social Sciences version 25.0 (SPSS Inc., United States). The chi-square test was applied to assess the relationship between the level of knowledge and gender. One way analysis of variance was performed to assess the overall differences in mean knowledge score by study year, GPA, mother’s education, and source of information. Unpaired Student’s T-test was used to analyze the differences in mean knowledge scores (continuous variable) based on smoking status and alcohol consumption. Results Of 320 students, 301 completed the questionnaire (response rate = 94.0%), of which 179(59.5%) were males. The study revealed above-average knowledge scores (total mean = 68.4%) regarding breast cancer, general information (71.9%), common clinical features (71.6%), and risk factors (71.6%). Clinical students (4th, 5th, and 6th years) scored higher compared with pre-clinical students (1st, 2nd, and 3rd years). Conclusion This study showed above-average knowledge scores regarding breast cancer. More efforts to correct misinformation, through reassessing the university curriculum and promoting awareness about breast cancer are required.

scholarly journals Characterization of depressive syndrome in schizophrenic outpatients

2002 ◽  
Vol 24 (1) ◽  
pp. 18-25 ◽  
Author(s):  
Flávio Soares de Araújo ◽  
Kátia Petribú ◽  
Othon Bastos
Keyword(s):  
Clinical Features ◽  
Clinical Picture ◽  
Depression Scale ◽  
Cross Sectional Study ◽  
Depressive Syndrome ◽  
Psychosocial Stressors ◽  
First Episode ◽  
Psychotic Episode ◽  
Cross Sectional ◽  
Dsm Iv

OBJECTIVE: The authors carried out a cross-sectional study with the aim of characterizing and describing depressive pictures in schizophrenic patients seen at the Psychiatry Outpatient Clinic of the Federal University of Pernambuco (HC-UFPE). The patients had the diagnosis of schizophrenia confirmed on the basis of the operating criteria of the DSM-IV. METHODS: Those who where in the period of stabilization of the clinical picture were selected for the study defined according the following criteria:the last psychotic episode must be happened two months before at least, and during this period the alterations of the antipsychotics doses had been lower than 5 mg of haloperidol or equivalent doses of others neuroleptics. A total of one hundred and four patients took part. Following the identification of the depressive symptoms using the Calgary Depression Scale for Schizophrenia (CDSS), thirty-one patients (29.8%) fulfilled the diagnostic criteria described in the DSM-IV. Of these, 22.1% had the diagnosis of major depression and 7.7% of minor depression according the DSM-IV. Two groups were constituted: Group A, schizophrenics with a depressive syndrome, and Group B, schizophrenics without such a syndrome. An assessment was made of the distribution of the symptoms of the CDSS scores in both groups, the sociodemographic, clinical and therapeutic variables in relation to the frequency of the depressive syndrome, and the patients clinical course. For the investigation of certain clinical features, the following tools were used: problem list (psychosocial stressors) contained in axis IV of the DSM-IV intended to detect the presence of factors triggering the initial episode of schizophrenia and the Global Assessment of Functioning (GAF -- Axis V -- DSM-IV) to characterize the current functioning of the patients. CONCLUSIONS: The results obtained allowed the authors to draw the following conclusions: all the items that comprise the Brazilian version of the CDSS were statistically significant in characterizing the depressive syndrome; a comparison of the sociodemographic and therapeutic variables revealed no statistically significant differences between the two groups, and this was also the case with the majority of the clinical features. Statistically significant differences, however, were found in relation to the greater frequency of life events (psychosocial stressors) in triggering the first episode of schizophrenia and the higher incidence of affective disorders antecedents in family members (first and second degree) among the depressed patients. The mean duration of the depressive syndrome during follow-up of the patients was 5.30 months. The patients in whom there was a recurrence of the psychotic episode presented a delusional-hallucinatory clinical picture. This study seeks to contribute to the inclusion of the Postpsychotic Depressive Disorder (PSD) of Schizophrenia (DSM-IV), in the group of Schizophrenic Disorders.

scholarly journals Prevalence of Metabolic Syndrome among Border Guard Bangladesh Personnel

2020 ◽  
Vol 14 (2) ◽  
pp. 97-100
Author(s):  
Md Abdul Wahab ◽  
Md Mustafizur Rahman ◽  
Md Abdur Razzak ◽  
Md Habibur Rahman ◽  
Mimi Parvin ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
International Diabetes Federation ◽  
Armed Forces ◽  
Cross Sectional Study ◽  
Age Group ◽  
Metabolic Abnormalities ◽  
Sectional Study ◽  
Ethnic Population ◽  
Cross Sectional ◽  
Medical College

Introduction: Metabolic syndrome (MetS) is a multifaceted syndrome comprises a cluster of metabolic abnormalities including hypertension, central obesity, insulin resistance, dyslipidemia, and is strongly associated with developing diabetes mellitus and cardiovascular diseases. Prevalence of MetS differs in different ethnic population by using different definition. Objectives: To determine the prevalence of the MetS and its component risk factors among Border Guard Bangladesh (BGB) personnel working in Chattagram Hill Tract (CHT). Materials & Methods: This descriptive cross-sectional study was conducted from October 2016 to February 2018 among 1455 male BGB personnel aged between 40 to 59 years and working in CHT of Bangladesh. Study subjects were selected at BGB hospital, Guimara, Khagrachari. The new International Diabetes Federation (IDF) guidelines were used to identify MetS. Detail history, clinical examination, anthropometry and blood pressure (BP) were measured and fasting plasma glucose (FPG) and lipid profile were assessed. Results: Among the 1455 respondents’ BMI, waist circumference, systolic and diastolic BP were found more than normal in 34.1, 37.7, 16.4% and 12.3% respectively. Biochemical parameters including FPG, TC, TG, and LDL-C was raised in 28.7%, 49.8%, 52.2% and 37.7% of respondents respectively. HDL-C was found decreased in 26.9% respondents. Age wise prevalence of MetS for age group 40-44, 45-49, 50-54 and 55- 59 years were found 21.3%, 21.7%, 24.1% and 26.1% of the respondents respectively. The overall prevalence of MetS was found 22.4%. Conclusion: The prevalence of the MetS in BGB personnel was found 22.4%. Appropriate measure should be taken to lower the MetS cases. Journal of Armed Forces Medical College Bangladesh Vol.14 (2) 2018: 97-100

scholarly journals Lumbosacral transitional vertebra in military aviation candidates: A cross-sectional study

2021 ◽  
Vol 65 ◽  
pp. 29-32
Author(s):  
R Vaidya ◽  
M Bhatia
Keyword(s):  
Armed Forces ◽  
Cross Sectional Study ◽  
Common Finding ◽  
Small Subset ◽  
Lumbosacral Junction ◽  
Cross Sectional ◽  
Transitional Vertebra ◽  
Medical Evaluation ◽  
Study Population ◽  
Lumbosacral Transitional Vertebra

Introduction: Lumbosacral transitional vertebra (LSTV) is a common anomaly of the lumbosacral junction with a prevalence of 4–35.9% in various studies. Plain radiography of the spine in anteroposterior and lateral projections is done for the evaluation of the spine in candidates coming for medical evaluation for flying duties in the armed forces. Material and Methods: An observational study was conducted on the whole spine series of radiographs done at a medical selection establishment. The study population included candidates reporting to the establishment for medical examination to ascertain fitness for flying duties. In a small subset of this study population having LSTV, the Ferguson’s view was done to better delineate the lumbosacral junction. Results: The analysis revealed a total 148 cases of LSTV with a prevalence of 13.9%. Ferguson’s view, undertaken among 30 doubtful cases, confirmed the presence of LSTV in 27 cases. Type IIa was observed to be the most common pattern of LSTV followed by Type IIIb. As per the existing policy, 63.8% of candidates with LSTV were considered unfit for flying duties. Conclusion: Flying duties in the armed forces require the highest standard of physical fitness. LSTV is a very common finding during the evaluation of candidates and it is appropriate that the cases of LSTV be evaluated thoroughly. In doubtful cases of LSTV, the Ferguson’s view is a useful supplementary view as it clearly delineates the lumbosacral junction.

scholarly journals Relationship of Bone Marrow Plasma Cell Morphology with Cytogenetic Abnormalities in Patients with Multiple Myeloma

2021 ◽  
Author(s):  
Vikram Narang ◽  
Maneet Luthra ◽  
Avantika Garg ◽  
Amit Dhiman ◽  
Neena Sood
Keyword(s):  
Multiple Myeloma ◽  
Plasma Cells ◽  
Descriptive Analysis ◽  
Cross Sectional Study ◽  
Chi Square ◽  
Morphological Pattern ◽  
Cross Sectional ◽  
Cytogenetic Abnormalities ◽  
Cytogenetic Studies ◽  
Chi Square Test

Introduction: Cytogenetics has become an integral part of Multiple Myeloma (MM) diagnosis and prognostication. A combination of conventional cytogenetics and interphase Fluorescence In Situ Hybridization (FISH) is currently used to stratify tumours into high, intermediate and standard risk disease. Aim: To compare the morphological details of plasma cells with cytogenetic abnormalities. Materials and Methods: The present retrospective cross sectional study was conducted at Department of Pathology Dayanand Medical College and Hospital, Ludhiana in three and a half year duration (1st January 2014 to 30th June 2017). All the diagnosed MM patients in whom cytogenetic was available were included and descriptive analysis was done using Chi-Square test and relevant statistical analysis using SPSS 21 version. Correlation was done with various morphological pattern (plasmacytic, plasma blastic). Results: Cytogenetic studies were performed on 42 cases using FISH technique (n=31, 81.6%) and GTG (Giemsa) banding (n=4, 10.5%). Three (7.9%) patients were tested with both methods. In the present study, all the patients (n=2,100%) with plasmablastic morphology who got tested with cytogenetics had del13q14.3 and none of the patients with normal genome (n=22) had plasmablastic morphology. Conclusion: Morphologic patterns of plasma cells and cytogenetic studies correlate well and can together help in better prognostication of MM patients.

scholarly journals Impact of metabolic syndrome and clinical features on functioning in patients with bipolar disorder: a cross-sectional study

2020 ◽  
Vol 42 (4) ◽  
pp. 373-381
Author(s):  
Hanife Kocakaya ◽  
Emrah Songur ◽  
Sedat Batmaz ◽  
Zekiye Çelikbaş ◽  
Önder Küçük
Keyword(s):  
Metabolic Syndrome ◽  
Bipolar Disorder ◽  
Clinical Features ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional
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