scholarly journals Cytogenetic findings at Down syndrome and their correlation with clinical findings

2005 ◽  
Vol 5 (4) ◽  
pp. 61-67
Author(s):  
Amra Ćatović ◽  
Sulejman Kendić

Down syndrome is a genetic state characterized by trisomy of chromosome 21. In the retrospective study for 12 years period (1991-2002) we have conducted correlation between cytogenetics analyses and clinical findings in our centre at 96 male and 83 female patients. Down syndrome was confirmed by cytogenetics analyses in 84 (87.5%) male patients and excluded in 12 (12.5%) male patients. Most common karyotype is free trisomy found in 139 (89.7%) examinees, than follows translocation form determined in 9 (5.8%), and mosaicism determined in 7 (4.5%) examinees. Our results indicate that cytogenetics analyses are necessary to confirm diagnosis of Down syndrome.

1998 ◽  
Vol 22 (7) ◽  
pp. 432-435 ◽  
Author(s):  
B. T. Farid ◽  
R. H. Bird ◽  
B. Naik

This is a retrospective study of 173 consecutive admissions to a general psychiatric hospital. The aim was to establish the frequency and adequacy with which alcohol and tobacco use were recorded. Regarding alcohol, in 41% of the notes there was no adequate quantitative history, in 29.5% there was a descriptive mention and in 29.5% no history was recorded. Female patients were less likely to have an alcohol history taken than male patients. With tobacco, in 64% of the notes there was an adequate quantitative history, in 6.4% there was a descriptive comment and in 28.9% no history was recorded. It is to be stressed to all doctors that an assessment of alcohol and tobacco use should be made for every patient, whatever their age, gender or ethnic origin.


2012 ◽  
Vol 45 (3) ◽  
pp. 353-356 ◽  
Author(s):  
Cleudson Castro ◽  
Esperanza Bernal Hernandez ◽  
Joffre Rezende ◽  
Aluizio Prata

INTRODUCTION: Since 1970, lengthening of the rectosigmoid has been suspected to be a solitary manifestation of Chagas colopathy. METHODS: To test this hypothesis, opaque enema was administered on 210 seropositive and 63 seronegative patients, and radiographs in the anteroposterior and posteroanterior positions were examined blind to the serological and clinical findings. The distal colon was measured using a flexible ruler along the central axis of the image from the anus to the iliac crest. RESULTS: Dolichocolon was diagnosed in 31 (14.8%) seropositive and 3 (4.8%) seronegative patients. The mean length was 57.2 (±12.2)cm in seropositive patients and 52.1 (±8.8)cm in the seronegative patients (p = 0.000), that is, the distal colon in Chagas patients was, on average, 5.1cm longer. Seropositive female patients presented a mean length of 58.8 (±12.3)cm, and seronegative female patients presented 53.2 (±9.1)cm (p = 0.002). Seropositive male patients had a mean length of 55 (±11.6)cm, and seronegative male patients had 49.9 (±7.8)cm (p = 0.02). Among 191 patients without megacolon and suspected megacolon, the mean length was 56.3 (±11.6)cm in seropositive individuals and 52 (±8.8)cm in seronegative patients (p = 0.003). Among individuals with distal colon >70cm, there were 31 Chagas patients with mean length of 77.9 (±7.1)cm and three seronegative with 71.3 (±1.1)cm (p = 0.000). Among 179 with distal colon <70cm, seropositive individuals had a mean length of 53.6 (±8.8)cm, and seronegative patients had 51.2 (±7.8)cm (p = 0.059). Serological positive women had longer distal colon than men (p = 0.02), whereas the mean length were the same among seronegative individuals (p = 0.16). CONCLUSIONS: In endemic areas of Brazil Central, solitary dolichocolon is a radiological Chagas disease signal.


2007 ◽  
Vol 89 (8) ◽  
pp. 766-769 ◽  
Author(s):  
V Singhal ◽  
V Jadhav

INTRODUCTION Appendicectomy is by far the commonest major emergency general surgical operation and laparoscopic appendicectomy is now becoming common. The question of whether a normal-looking appendix should be removed laparoscopically is more pertinent than ever before. PATIENTS AND METHODS A retrospective study was undertaken to review the histopathology results and compare macroscopic with microscopic descriptions of all patients who underwent an appendicectomy, either by open surgery or laparoscopically, over a 1-year period from 1 September 2004 to 31 August 2005. RESULTS A total of 199 appendicectomies were carried out in the year of which histopathology results for 190 could be retrieved. Of the 190 who had an appendicectomy, 110 (57.9%) were female and 80 (42.1%) were male. While appendicitis was confirmed histologically in 65 of 80 (81.2%) male patients, it could only be confirmed histologically in 57 of 110 (51.8%) female patients. However, in a large number of female patients in whom macroscopically normal appendices had been removed, other findings were noted including fibro-obliterative changes in 10, luminal inflammation in 6, serositis in 5, lymphoid hyperplasia in 3, feacoliths in 2, and pinworm in 1, making another abdominal pathology a possibility. CONCLUSIONS The number of macroscopically normal appendices removed was much larger in female patients. However in 27 of 49 normal looking appendices in females, findings such as serositis, luminal inflammation, lymphoid hyperplasia, etc. were noted on histology, suggesting that another abdominal pathology may have been missed or the appendix may still have been the cause for pain. On the basis of these findings, we suggest that diagnostic laparoscopy should be performed at least in all female patients before an appendicectomy; if no other findings are noted on laparoscopy, it is likely to be worthwhile to remove the appendix.


e-CliniC ◽  
2013 ◽  
Vol 1 (2) ◽  
Author(s):  
Ariesta Zubiah Ramadhini ◽  
L. S. Angliadi ◽  
Engeline Angliadi

Abstract: Stroke may cause a serious problem that leads to a disability or even mortality. The purpose is to determine such an incidence caused by hypertension at the Installation of Medical Rehabilitation RSUP Prof. dr. R. D. Kandou Manado based on the characteristic of age, gender and occupation. This research was taken at the Installation of Medical Rehabilitation RSUP Prof. R. D. Kandou Manado by using retrospective descriptive study method as well as examining 228 new cases of stroke patients that correlated with conclusion criteria. The result showed 8,3% patients at ≤44th years old, 33,3% patients at 45th – 54th years old, 32% patients at 55th – 64th years old, 20,25% patients at 65th – 74th years old, 6,1% patients at 75th – 84th years old. 53,1% male patients, 46,9% female patients. 33,3% retirement, 18% farmers, 18% government officers, 5,3% private employees, 2,2% drivers, 0,9% teachers and, 3,1% housewives. Keywords: incidence, hypertension, stroke   Abstrak: Stroke dapat menimbulkan masalah besar karena menyebabkan kecacatan dan kematian. Tujuan, mengetahui gambaran angka kejadian stroke akibat hipertensi di Instalasi Rehabilitasi Medik RSUP Prof. Dr. R. D. Kandou Manado sesuai dengan karakteristik umur, jenis kelamin, dan jenis pekerjaan. Penelitian dilakukan di Instalasi Rehabilitasi Medik BLU RSUP Prof. dr. R. D. Kandou Manado, dilakukan secara retrospektif deskriptif dan didapatkan sampel sebanyak 228 data pasien kunjungan baru kasus stroke sesuai kriteria inklusi yang ditetapkan. Hasil penelitian, pasien stroke berumur ≤44 tahun 8,3%, berumur 45 – 54 tahun 33,3%, berumur 55 – 64 tahun 32%, berumur 65 – 74 tahun 20,25%, berumur 75 – 84 tahun 6,1%. Pasien stroke berjenis kelamin laki – laki 53,1%, perempuan 46,9%. Pasien stroke yang berstatus pekerjaan pensiunan 33,3%, petani 18%, PNS 18%, pegawai swasta 5,3%, supir 2,2%, guru 0,9%, IRT 3,1%. Kata Kunci: gambaran angka kejadian, hipertensi, stroke


2020 ◽  
Vol 30 (Supplement_5) ◽  
Author(s):  
M Lutfor Rahman ◽  
C Nunes ◽  
P Aguiar

Abstract Background Globally, tuberculosis (TB) remains one of the top 10 causes of deaths and the leading cause from a single infectious agent. Delayed TB diagnosis and/or treatment may result in the transmission of bacilli, increasing infectivity, the risk of severe disease states, morbidity and mortality. It is essential to identify the factors that prolong delays in TB services so that health planners can initiate necessary measures to control TB infections. Methods A nationwide retrospective study was conducted from 2010 until 2013 to analyze tuberculosis delays under the setting of the Portuguese National Tuberculosis Control Programme. There were 16824 participants who were from 25 administrative districts under 7 regions and were originated from 70 countries in the world. The log-rank test, Cox's regression, and the Kaplan-Meier method have employed to analyze TB delay data. Results The median of patients` delay was 34 days with interquartile ranges (IQR) 50 days. Alcohol addicted people with TB infection were delayed by 40 days with 95% CI 37.73-42.28 whereas the non-addicted people took 33 days with 95% CI 32.35-33.65. The median diagnostic delay was 12 days with an IQR of 38 days. The female participants were delayed more than that of male (median delay for female 17 days with 95% CI 15.80-18.19) in TB diagnosis. Further, comorbidities e.g. lung cancer affected TB candidates were delayed more than their counterparts (median delay 37 days with 95% CI 23.29-50.70). The median of public health delays was 63 days with IQR 72 days. The females were delayed more than that of males (median delay 68 days with 95% CI 66.06-69.94). The adjusted Cox's regression identifies the features - older age, female, drug addiction, and community residence as potential factors that might affect TB delays. Conclusions It is essential to emphasize on the influencing dynamics - older age, female patients, HIV patients, alcohol addiction, and comorbidities to minimize TB delays. Key messages To minimize spreading risk of TB infections the dynamics of TB delays e.g. older age, female patients, drug, and alcohol addiction, comorbidities should be prioritized in the TB control programs. Special attention should be given to other lung diseases while diagnosing TB infections.


2021 ◽  
Vol 9 (5) ◽  
pp. 232596712110064
Author(s):  
Matthew L. Vopat ◽  
Reed G. Coda ◽  
Nick E. Giusti ◽  
Jordan Baker ◽  
Armin Tarakemeh ◽  
...  

Background: The glenohumeral joint is one of the most frequently dislocated joints in the body, particularly in young, active adults. Purpose: To conduct a systematic review and meta-analysis to evaluate and compare outcomes between anterior versus posterior shoulder instability. Study Design: Systematic review; Level of evidence, 4. Methods: A systematic review was performed using the PubMed, Cochrane Library, and MEDLINE databases (from inception to September 2019) according to PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. Studies were included if they were published in the English language, contained outcomes after anterior or posterior shoulder instability, had at least 1 year of follow-up, and included arthroscopic soft tissue labral repair of either anterior or posterior instability. Outcomes including return-to-sport (RTS) rate, postoperative instability rate, and pre- and postoperative American Shoulder and Elbow Surgeons (ASES) scores were recorded and analyzed. Results: Overall, 39 studies were included (2077 patients; 1716 male patients and 361 female patients). Patients with anterior instability had a mean age of 23.45 ± 5.40 years (range, 11-72 years), while patients with posterior instability had a mean age of 23.08 ± 8.41 years (range, 13-61 years). The percentage of male patients with anterior instability was significantly higher than that of female patients (odds ratio [OR], 1.36; 95% CI, 1.04-1.77; P = .021). Compared with patients with posterior instability, those with anterior instability were significantly more likely to RTS (OR, 2.31; 95% CI, 1.76-3.04; P < .001), and they were significantly more likely to have postoperative instability (OR, 1.53; 95% CI, 1.07-2.23; P = .018). Patients with anterior instability also had significantly higher ASES scores than those with posterior instability (difference in means, 6.74; 95% CI, 4.71-8.77; P < .001). There were no significant differences found in postoperative complications between the anterior group (11 complications; 1.8%) and the posterior group (3 complications; 1.6%) (OR, 1.12; 95% CI, 0.29-6.30; P = .999). Conclusion: Patients with anterior shoulder instability had higher RTS rates but were more likely to have postoperative instability compared with posterior instability patients. Overall, male patients were significantly more likely to have anterior shoulder instability, while female patients were significantly more likely to have posterior shoulder instability.


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