scholarly journals Genital ambiguity: a cytogenetic evaluation of gender

Author(s):  
K. S. Lekha ◽  
V. Bhagyam ◽  
P. D. Varghese ◽  
M. Manju

Background: Genital ambiguity is a complex genetic disorder of sexual differentiation into male or female. The purpose of the present study is to correlate the sex of rearing with the genetic sex and to find out the prevalence of chromosomal anomalies in patients with ambiguous genitalia. The findings can help in proper diagnosis, genetic counselling, and the reassignment of sex, if necessary.  Methods: In this cross-sectional study, 22 patients from north Kerala, ranging in age from 17 days to 17 years, were included. All cases were subjected to the following: a detailed history, physical examination, evaluation of clinical data, and cytogenetic analysis. Based on the standard protocol, peripheral blood lymphocyte culture was done. Chromosomal analysis was carried out with the help of an automated karyotyping system after G-banding of chromosomes.Results: Out of the 22 patients with ambiguous genitalia, 12 patients were genetic females with karyotype 46, XX, and nine patients were genetic males with 46, XY karyotype. One was a rare variant of Klinefelter syndrome with karyotype 49, XXXXY. The most common diagnosis was congenital adrenal hyperplasia, followed by partial androgen insensitivity syndrome. Discrepancies between genetic sex and sex of rearing were noted in 27% of the cases.Conclusions: This study unfolds the variable etiology of ambiguous genitalia and emphasizes the importance of karyotyping in diagnosis, proper assignment of the sex, and appropriate management of patients with genital ambiguity.  

Pharmacy ◽  
2018 ◽  
Vol 6 (3) ◽  
pp. 83 ◽  
Author(s):  
Doaa Naeem ◽  
Majed Alshamrani ◽  
Mohammed Aseeri ◽  
Mansoor Khan

Background: Febrile neutropenia (FN) is an oncologic emergency which should be treated immediately with empiric antibiotics. Different institutions observe different antibiograms and use different FN management guidelines. Our center implemented FN management guidelines for adult cancer patients in 2009. Hence, we decided to assess compliance with FN management guidelines and to describe the pattern of bacterial infections. Method: We conducted a cross-sectional study on all adult cancer patients admitted with FN. Data were collected from electronic medical records between January and December 2014. Results: One hundred FN episodes met the study inclusion criteria. The mean age of the patients was 41 ± 17 years; 52% (52 patients) were women. The most common diagnosis was lymphoma (33%). In terms of compliance to institutional FN guidelines, 55% of patients received guideline non-compliant treatment. The most common non-compliant treatment was incorrect amikacin dosing in 31% of patients, followed by incorrect vancomycin dosing in 20%, incorrect piperacillin/tazobactam dosing in 19%, inappropriate use of carbapenems in 18%, and non-compliant vancomycin use in 12% of patients. Bacterial isolates were only observed in 19% of the FN episodes. Among these 19 episodes of FN, Gram-negative pathogens were predominant and were identified in 74% of the episodes, followed by Gram-positive pathogens in 16% and polymicrobial pathogens in 10%. The mean time to defervescence was 2.21 ± 2 days. Conclusion: Our study concluded that there was a high percentage of non-compliance with our institutional FN management guidelines. We recommend following appropriate empiric antibiotic doses and indications as per institutional guidelines.


2017 ◽  
Vol 4 (2) ◽  
pp. 534
Author(s):  
MD. Shakeel ◽  
Syed Shahid Irfan

Background: Pancreatitis is an inflammatory process leading to abdominal pain, progressive destruction of the exocrine tissue and in some patients a loss of endocrine tissue as well. However owing to the tremendous reserve of pancreatic function, insufficiency may be at subclinical at least in the beginning of the disease.Methods: A cross sectional study was conducted which included the patients admitted with pancreatitis. For all the patients, meticulous records will be maintained regarding clinical features, family history of pancreatitis, alcohol intake, dietary habits, and stigmata of alcoholic liver diseases and by performing various investigations. 200 cases admitted, diagnosed to have pancreatitis.Results: The most common diagnosis was acute pancreatitis (48%) followed by chronic pancreatitis (12%), acute pancreatitis and pseudocyst (12%), acute on chronic pancreatitis (12%), necrotizing pancreatitis (8%) and acute pancreatitis with others (8%).Conclusions: Overall acute pancreatitis constituted 76%, chronic pancreatitis 12% and acute on chronic pancreatitis 12%.


2021 ◽  
Vol 11 (6) ◽  
pp. 155-158
Author(s):  
Joseph Cyrille Chopkeng Ngoumfe

Background: Early surgical treatment remains the first factor of good prognosis for the management of acute abdominal diseases. The aim of this study was to evaluate the delay in the management of these pathologies in our context. Material and methods: We conducted a prospective cross-sectional study at the Yaoundé Central Hospital (HCY) over 7 months. All patients over 15 years of age presenting with an acute non-traumatic digestive surgical abdomen were included. The follow-up was done during the entire hospital stay of the patients. The dates and times of the different stages of management were recorded. Results: We collected 63 patients, 37 men, with a sex ratio M/F of 1.42. The mean age was 41.06±18 years. The mean time between arrival in the emergency room and the indication for surgery was 16.9 hours. Acute generalized peritonitis (n=26) was the most common diagnosis with 41.3% of cases. The average time between the indication for surgery and the availability of the surgical kit was 19 hours. The average time between the availability of the operating kit and the start of the surgical procedure was 6.2 hours. The complication rate was 33.3%. The mortality rate was 15.9%. Conclusion: Our delays in the management of acute abdomens are relatively long. A better organisation of the system and continuous training of the medical staff of peripheral hospitals would improve the prognosis of our patients.


2019 ◽  
Vol 77 (8) ◽  
pp. 574-578 ◽  
Author(s):  
Leo Bayliss ◽  
Víctor Galvez ◽  
Adriana Ochoa-Morales ◽  
Mireya Chávez-Oliveros ◽  
Yaneth Rodríguez-Agudelo ◽  
...  

ABSTRACT Huntington disease (HD) is an autosomal dominant genetic disorder characterized by movement disorders, cognitive impairment, and psychiatric symptoms. Relatives of HD patients experience a great burden as the latter suffer from altered social conduct and deterioration of interpersonal relationships. Theory of mind (ToM) is the ability to attribute mental states (to oneself and others). Deficits in ToM are thought to have a role in the changes in empathy and interpersonal difficulties that HD patients face. Methods: We conducted a cross sectional study to compare ToM task scores of patients with mild to moderate HD, their relatives (spouse or at-risk first-degree relative with a negative gene test) and controls.Individuals with dementia or depression were excluded. The ToM test battery included Spanish versions of the Reading Mind in the Eyes Test (RMET), Happé's Strange Stories (Social and Physical Stories subtests) and the Hinting Task. Results: The series comprised 12 HD patients, 12 relatives and 12 controls. The HD patients showed lower affective ToM scores than controls (RMET 19 [3.5] vs 23.9 [2.7], p = 0.016). Cognitive ToM tasks scores were lower in HD patients than controls as well (Happé's Social Stories 9 [2.6] vs 13 [1.9], p = 0.001; the Hinting Task 13.6 [3.4] vs 17.5 [4.0], p = 0.009). In the Hinting Task, HD relatives had lower scores in than controls (13 [3.2] vs 17.5 [4.0], p = 0.009) and similar scores to controls in the rest of the battery. Conclusion: The HD patients with mild to moderate disease severity and their relatives show ToM deficits.


2015 ◽  
Vol 3 (2) ◽  
pp. 43-47
Author(s):  
S K Verma ◽  
A K Pandey ◽  
B R Adhikari ◽  
L Mallick

Introduction: Studies from developing countries are few, on phenomenology of Delirium, even though it is a common diagnosis among psychiatric referrals. We studied the phenomenology of delirium in a teaching hospital in western region of Nepal by using standard assessment methods. Aim: The aim of the study was to assess the phenomenological characteristics of delirium based on Delirium Rating Scale-Revised-98 (DRS–R98). Methods: All consecutive patients of delirium who were referred to department of psychiatry for assessment were enrolled over a period of 12 months. Socio-demographic variables and other medical information were collected by using standardized data-collection forms developed by the department of Psychiatry. Assessments were based on all available information obtained from the patients, caregivers, medical staff, and medical records. Results and conclusions: A total of 62 cases were studied out of which 83.9% were male. Mean age of the subjects was 47 years. Mean delirium severity was 21.35 (SD=3.54). Orientation, attention and short term memory was impaired in all of the cases. Long term memory impairment was noted in 98.4% of cases. Sleep wake cycle disturbance was present in 60 (96.8%) cases, perceptual abnormalities in 49 (79%) cases, some form of delusion was present in 19 (30.6%), lability of affect could be appreciated in 27(43.5%). Language, thought process abnormalities and impaired visuo-spatial ability was present in 19 (30.6%), 3 (4.8%) and 13 (21%) cases respectively.J Psychiatric Association of Nepal Vol .3, No.2, 2014, pp: 43-47DOI: http://dx.doi.org/10.3126/jpan.v3i2.12394


Author(s):  
Amod S. Dhage ◽  
Anne R. Wilkinson

Background: Communication between physicians and patients is a fundamental aspect of cancer care. Bad news could be defined as "any information, which adversely affects an individual's view of his or her future”. The aim of the research study was to explore the patient’s perspective on receiving cancer news and their expectations regarding the same.Methods: A cross-sectional study was performed in our tertiary care teaching hospital. 50 consenting cancer patients from 18 to 60 years of age were interviewed on the basis of a structured, validated questionnaire.Results: On analysis of the 50 patients ‘answers, it was found that 37 were females and 13 were males, the average age being 50.07 years. The common diagnosis in females was breast cancer (20 patients) and in males it was lung cancer (5 patients). All the patients wanted relatives present with them when the bad news was broken to them.  In 66.6% patients, the news was broken by a junior resident, 15% of the doctors didn't greet the patients, 10% of the patients were told the news suddenly, while 99% of the doctors didn’t explain any positive aspects of the disease related to the treatment outcome.Conclusions: This study provides an insight into the expectations of patients from their physicians with regard to the process of breaking bad news.


2020 ◽  
Vol 35 (6) ◽  
pp. e191-e191
Author(s):  
Mohammed S. Al-Rashdi ◽  
Bakathir Abdulaziz ◽  
Khalid A. Al Balushi

Objectives: We sought to assess medications prescribed to patients attending the Dental and Maxillofacial Surgery (DMS) clinic at Sultan Qaboos University Hospital (SQUH), Oman. Methods: This was a retrospective cross-sectional study covering a six-month period from January to June 2018 including a sample of patients attending the DMS clinic. Drug utilization data like drug name, type, administration route, dosage frequency, and anatomical and therapeutic class were assessed. Results: The study included 400 patients, of which 190 (47.5%) were males and 210 (52.5%) were females. A total of 88 different drugs were prescribed. Only 140 (35.0%) patients were prescribed drugs for their dental conditions or other comorbidities per visit, and the rest 260 (65.0%) were not prescribed any drugs. The dentists prescribed drugs only in 116 (29.0%) patients. The most common diagnosis was dental caries (n = 177, 44.3%) followed by chronic gingivitis (n = 15, 3.8%). The most common comorbidities in patients were anemia (n = 45, 11.3%) and diabetes (n = 21, 5.3%). The most common drugs prescribed were chlorhexidine mouthwash (n = 43, 37.1%) and paracetamol (n = 36, 31.0%) followed by ibuprofen (n = 10, 8.6%) and amoxicillin/clavulanate (n = 5, 4.3%). Conclusions: Drugs prescribing pattern was within the international norms. Sixty-five percent of the patients were not prescribed any drug by the dentist. Oral antiseptics, analgesics, and antibiotics were the most common drugs prescribed by dentists.


2018 ◽  
Vol 6 (2) ◽  
pp. 54-59
Author(s):  
S Limbu ◽  
DR Shakya ◽  
N Sapkota ◽  
R Gautam ◽  
L Paudel

Introduction: Nicotine dependent individuals among the tobacco users are in greater risk of having tobacco related disease and psychiatric co-morbidities. There is little information about the tobacco use and nicotine dependence among psychiatric patients in developing countries including Nepal. This study was done to estimate the prevalence of tobacco use, the level of nicotine dependence among the users and the psychiatric disorder specific prevalence among tobacco users admitted in psychiatry ward.Material And Method: A cross-sectional study was conducted in In-patient setting of Department of Psychiatry, BPKIHS. Ninety cases (size) were enrolled. The Fagerström Test for Nicotine Dependence (FTND) was applied to assess the level of nicotine dependence and the Mini International Neuropsychiatric Interview (M.I.N.I.) for diagnosis of Psychiatric disorders.Results: The prevalence of tobacco use was 62.2%. Tobacco use was more common among males (p value< 0.05).Smokeless form was the commonest form of tobacco. Majority of tobacco users had moderate nicotine dependence and had started the use in adolescence and in their 20s. Psychotic disorders were the most common diagnosis among the admitted patients.Conclusion: Tobacco use is common in patients with psychiatric disorders. Nicotine dependence should be looked into for holistic management. Treatment approaches should be tailored in tobacco users with comorbid psychiatric disorders, as this specific population has high prevalence of tobacco use and higher nicotine dependence. J Psychiatrists’ Association of Nepal Vol. 6, No. 2, 2017, Page: 54-59


2014 ◽  
Vol 1 (1) ◽  
pp. 30
Author(s):  
S. D. Chavhan ◽  
S. V. Mahajan ◽  
Ashok J. Vankudre

<strong>Background:</strong> Papulosquamous lesions of the skin are encountered with considerable frequency. There is overlap of both clinical pattern and distribution of papulosquamous skin disorders, which often makes clinical diagnosis difficult. However, some of the histopathological features are specific and characteristic for each entity. Hence, combination of proper clinical observation and histopathological study will give a conclusive diagnosis. <strong>Material &amp; Methods:</strong> A cross sectional study was done in department of pathology in which after satisfying inclusion criteria all papulosquamous lesion patients irrespective of age &amp; gender were included in study in defined period. A brief history and dermatological examination was carried out. Skin biopsies taken were fixed in 10% formalin and subjected for tissue processing. The processed tissue was embedded in paraffin to obtain five-micron thin sections. The sections were stained with routine hematoxylin and eosin stain, followed by microscopic examination. <strong>Result:</strong> Out of 61 patients of papulosquamous lesion most common diagnosis was Lichen planus, (57.37 %) followed by Psoriasis (32.78 %). Commonest age group reporting Lichen planus &amp; Psoriasis was 21-40 yrs. Male preponderance was noted in all papulosquamous lesion patients. Histological features commonly seen were hyperkeratosis, parakeratosis in both Lichen planus &amp; Psoriasis patients.


2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Deus A. Ndilanha ◽  
Grace A. Shayo ◽  
Ramadhan Hassan ◽  
Moses Byomuganyizi ◽  
Leonard E. K. Lema

Abstract Background Flexible bronchoscopy enables visualization of the respiratory airway mucosa from the oropharynx to third generation branching of the tracheobronchial tree. Bronchoscopic diagnoses vary from one locality to the other in accordance to the locality specific risk factors for lung diseases. This study aimed at describing diagnoses of all specimen of patients who underwent flexible bronchoscopy at Muhimbili National Hospital from January 2013 to November 2017. Methods A retrospective hospital-based cross sectional study was conducted among 451 patients. Data was collected from archives and included both demographic and clinical variables. Descriptive statistics were used to summarize the study findings. Results There was a 3 fold increase in the number of patients who underwent flexible bronchoscopy from 57 cases in 2013 to 180 cases in 2017. About 39% (174/451) of patients underwent lung biopsies while 64.5% (291/451) underwent bronchioalveolar lavage, bronchial washings or brush cytology, alone or in combination with biopsy. Generally, 64.4% (112/174) of all lung biopsies were malignant. Adenocarcinoma was the most common diagnosis seen in 33.9% (59/174). Of 76 cytological samples which were sent for bacterial culture and sensitivity, 11/76 (11.8%) were culture positive. A total of 6 (10.7%) out of 56 samples which were sent for GeneXpert MTB/RIF tested positive for M.tuberculosis. Conclusion Adenocarcinoma was the most common diagnosis. Bacterial and mycobacterial infections were among the most reported findings in cytological samples. Suspicious tuberculosis lesions during bronchoscopy made it possible to diagnose tuberculosis which was hard to diagnose before patients were sent for bronchoscopy.


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