Clinicogenetic Profile, Treatment Modalities, and Mortality Predictors of Gaucher Disease: A 15-Year Retrospective Study

2021 ◽  
pp. 1-10
Author(s):  
Anitha M. Barney ◽  
Sumita Danda ◽  
Aby Abraham ◽  
N.A. Fouzia ◽  
Aruna Gowdra ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Mortality Rate ◽  
Gaucher Disease ◽  
Supportive Therapy ◽  
Premature Mortality ◽  
Haematopoietic Stem Cell ◽  
Definitive Treatment ◽  
Kaplan Meier ◽  
Mortality Predictors ◽  
Definite Treatment

<b><i>Introduction:</i></b> Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder, in which biallelic pathogenic variants in the Glucosidase beta acid (<i>GBA</i>) gene result in defective functioning of glucosylceramidase that causes deposition of glucocerebroside in cells. GD has 3 major types namely, non-neuronopathic (type I), acute neuronopathic (type II), and chronic neuronopathic (type III). Definite treatment options are limited and expensive. They succumb early to the disease, if untreated. There is paucity of studies from the Indian subcontinent, which elicit the factors resulting in their premature mortality. <b><i>Materials and Methods:</i></b> A retrospective study was carried out in a tertiary care setting of South India to assess the clinical profile, mutation spectrum, and various management strategies (only supportive therapy, enzyme replacement therapy [ERT], substrate reduction therapy [SRT] haematopoietic stem cell transplant [HSCT]), and mortality predictors of patients with GD from 2004 to 2019. A Kaplan-Meier survival curve was plotted. In silico predictions were performed for novel variants. <b><i>Results:</i></b> There were 60 patients with all types of GD seen over the study period of 15 years. Their median age at diagnosis was 2 years. The median follow-up was for 5 years (interquartile range [IQR] = 2–8). The overall mortality rate was 35%; however, it was only 10% in those receiving definite treatment. Mortality was higher (47.5%) by more than 4 folds in those only on supportive therapy. The median survival from the time of diagnosis was 6.3 years (IQR = 3.5–10.8) in the definite treatment group and 3.5 years (IQR = 1–5) in those on supportive therapy. The Kaplan-Meier survival analysis showed significant (<i>p</i> value 0.001) mortality difference between these groups. The multiple logistic regression analysis found the neuronopathic type (OR = 5) and only supportive therapy (OR = 6.3) to be the independent risk factors for premature mortality. <b><i>Conclusion:</i></b> GD is a rare disease with a high mortality rate, if left untreated. ERT and SRT are the definitive treatments which increase the survival. In resource-limited settings like India, with higher prevalence of the neuronopathic type, HSCT may be a more suitable definitive treatment option, due to its one-time intervention and cost, assuming similar efficacy to ERT. However, the efficacy and safety of HSCT in GD needs to be established further by substantial patient numbers undergoing it.

Aspects of Orthodox Medicines (Therapeutic Drugs) Poisoning in Urban Zimbabwe

1992 ◽  
Vol 11 (5) ◽  
pp. 329-333 ◽  
Author(s):  
C.F.B. Nhachi ◽  
T. Habane ◽  
P. Satumba ◽  
O.M.J. Kasilo
Keyword(s):  
Retrospective Study ◽  
Mortality Rate ◽  
Total Population ◽  
Supportive Therapy ◽  
The Other ◽  
Therapeutic Drug ◽  
Traditional Medicines ◽  
Insect Venom ◽  
Therapeutic Drugs ◽  
Household Chemicals

1 A retrospective study (extending over 10 years, 1980 to 1989 inclusively) of hospital admission cases, due to therapeutic drug poisoning was carried out at the six main hospitals of Zimbabwe's four cities. 2 The four cities have a total population of approximately 4 million. 3 A total of 1061 cases were recorded and analysed. This constituted 16.7% of all poisoning admission cases (i.e. the fourth biggest cause of poisoning after traditional medicines, household chemicals and snake/insect venom). 4 Of the 1061 cases, 31 % were aged 21-30 years, 21.9% were aged 11-20 years, 14.9% were aged under 5 years and 12.8% were aged 31-40 years. Those aged over 80 years accounted for only 0.6% of the cases. 5 The major groups of drugs implicated were: the analgesics, 22% of the total; sedatives and hypnotics, 13.2%; antipsychotics, 11.6%; antimalarials, 9.3%; antidepressants, 9.0%; antimicrobials, 7.5%; and alcohol, 7.1 %. The other drugs each accounted for the less than 7%; the least used group were the gastrointestinal drugs which formed only 0.6% of the total. Poisoning due to drug abuse was cited at 1.3%. Overdose, either accidental or in the course of treatment, accounted for 63.5% of the cases. 6 The mortality rate was 3.9% and most of the deaths were suicides. 7 Treatment consisted mainly of the administration of ipecacuanha in those under 5 years old age and supportive therapy in adults. A few cases were given an antidote if it was specifically indicated.

scholarly journals Gambaran Evaluasi Terapi Antibiotik pada Pasien Bronkopneumonia di Instalasi Rawat Inap Anak RSUP Prof. Dr. R. D. Kandou Manado Periode Juli 2017 – Juni 2018

2018 ◽  
Vol 6 (2) ◽  
Author(s):  
Erfand Polii ◽  
Christi D. Mambo ◽  
Jimmy Posangi
Keyword(s):  
Retrospective Study ◽  
Mortality Rate ◽  
Antibiotic Therapy ◽  
Quantitative Methods ◽  
Quantitative Description ◽  
Definitive Treatment ◽  
Design Evaluation ◽  
Cross Sectional ◽  
Cross Sectional Design ◽  
The Right

Abstract: Bronchopneumonia is still one of the health problems worldwide due to its high mortality rate. The definitive treatment for this disease is antibiotics. However, the use of antibiotics in hospitals is 30-80% not for the right indication. This study was aimed to obtain the description of evaluation of antibiotic therapy in bronchopneumonia patients in the Pediatrics Inpatient Installation of Prof. Dr. R. D. Kandou Hospital Manado in the period of July 2017 - June 2018. This was a descriptive retrospective study with a cross-sectional design. Evaluation was done by using quantitative methods of DDD by WHO. The results of DDD/100-day evaluation using 41 samples were cefixime 141.63 DDD/100-day (48%), ampicillin 123.51 DDD /100-day (42%), cefotaxime 10.52 DDD/100-day (4%), gentamicin 8.88 DDD/ 100-day (3%), chloramphenicol 8.68 DDD/100-day (3%), and ceftriaxone 3.06 DDD/100-day (1%). Antibiotics included in 90% of the DU segment were cefixime and ampicillin. Conclusion: The most quantitative description evaluation of antibiotic therapy in bronchopneumonia patients was cefixime 141.63 DDD/100-day.Keywords: antibiotics, bronchopneumonia, DDD Abstrak: Bronkopneumonia menjadi salah satu masalah kesehatan di dunia karena angka kematiannya yang tinggi. Pengobatan definitifnya yaitu dengan pemberian antibiotik. Di berbagai rumah sakit, ditemukan 30-80% penggunaan antibiotik tidak didasarkan pada indikasi yang tepat. Penelitian ini bertujuan untuk mengetahui gambaran evaluasi terapi antibiotik pada pasien bronkopneumonia di Instalasi Rawat Inap Anak RSUP Prof. Dr. R. D. Kandou Manado periode Juli 2017 - Juni 2018. Jenis penelitian ialah deskriptif retrospektif dengan desain potong lintang. Evaluasi menggunakan metode kuantitatif DDD oleh WHO. Hasil evaluasi antibiotik DDD/100-hari dari 41 sampel yaitu cefiksim 141,63 DDD/100-hari (48%), ampicilin 123,51 DDD/100-hari (42%), cefotaksim 10,52 DDD/100-hari (4%), gentamisin 8,88 DDD/100-hari (3%), kloramfenikol 8,68 DDD/100-hari (3%), dan ceftriakson 3,06 DDD/100-hari (1%). Antibiotik yang masuk dalam segmen DU 90% yaitu cefiksim dan ampicilin. Simpulan: Secara kuantitas gambaran evaluasi terapi antibiotik terbanyak pada pasien bronkopneumonia yaitu cefiksim 141,63 DDD/100-hari.Kata kunci: antibiotik, bronkopneumonia, DDD

Open and laparoscopic surgeries are associated with comparable 90 day morbidities and mortalities following ERAS protocols- A retrospective Study. (Preprint)

2020 ◽  
Author(s):  
BHAVIN VASAVADA ◽  
Hardik Patel
Keyword(s):  
Multivariate Analysis ◽  
Retrospective Study ◽  
Mortality Rate ◽  
Operative Time ◽  
Univariate Analysis ◽  
Morbidity And Mortality ◽  
Morbidity Rate ◽  
Blood Products ◽  
Asa Score

UNSTRUCTURED All the gastrointestinal surgeries performed between April 2016 to march 2019 in our institution have been analysed for morbidity and mortality after ERAS protocols and data was collected prospectively. We performed 245 gastrointestinal and hepato-biliary surgeries between April 2016 to march 2019. Mean age of patients was 50.96 years. 135 were open surgeries and 110 were laparoscopic surgeries. Mean ASA score was 2.40, mean operative time was 111 minutes, mean CDC grade of surgery was 2.56. 40 were emergency surgeries and 205 were elective surgeries. Overall 90 days mortality rate was 8.5% and over all morbidity rate was around 9.79% . On univariate analysis morbidity was associated significantly with higher CDC grade of surgeries, higher ASA grade, more operative time, more blood products use, more hospitalstay, open surgeries,HPB surgeries and luminal surgeries(non hpb gastrointestinal surgeries) were associated with higher 90 days morbidity. On multivariate analysis no factors independently predicted morbidity. On univariate analysis 90 days mortality was predicted by grade of surgeries, higher ASA grade, more operative time, more blood products use, open surgeries and emergency surgeries. However on multivariate analysis only more blood products used was independently associated with mortality There is no difference between 90 day mortality and moribidity rates between open and laparoscopic surgeries.

Malnutrition and biological frailty are independent and complementary predictors of one-year mortality in women after primary angioplasty for ST-segment elevation myocardial infarction

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
R Arroyo-Espliguero ◽  
M.C Viana-Llamas ◽  
A Silva-Obregon ◽  
A Estrella-Alonso ◽  
C Marian-Crespo ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Mortality Rate ◽  
Primary Angioplasty ◽  
Prognostic Impact ◽  
St Segment Elevation ◽  
Segment Elevation Myocardial Infarction ◽  
Kaplan Meier ◽  
St Segment ◽  
One Year ◽  
The Impact

Abstract Background Malnutrition and sarcopenia are common features of frailty. Prevalence of frailty among ST-segment elevation myocardial infarction (STEMI) patients is higher in women than men. Purpose Assess gender-based differences in the impact of nutritional risk index (NRI) and frailty in one-year mortality rate among STEMI patients following primary angioplasty (PA). Methods Cohort of 321 consecutive patients (64 years [54–75]; 22.4% women) admitted to a general ICU after PA for STEMI. NRI was calculated as 1.519 × serum albumin (g/L) + 41.7 × (actual body weight [kg]/ideal weight [kg]). Vulnerable and moderate to severe NRI patients were those with Clinical Frailty Scale (CFS)≥4 and NRI&lt;97.5, respectively. We used Kaplan-Meier survival model. Results Baseline and mortality variables of 4 groups (NRI-/CFS-; NRI+/CFS-; NRI+/CFS- and NRI+/CFS+) are depicted in the Table. Prevalence of malnutrition, frailty or both were significantly greater in women (34.3%, 10% y 21.4%, respectively) than in men (28.9%, 2.8% y 6.0%, respectively; P&lt;0.001). Women had greater mortality rate (20.8% vs. 5.2%: OR 4.78, 95% CI, 2.15–10.60, P&lt;0.001), mainly from cardiogenic shock (P=0.003). Combination of malnutrition and frailty significantly decreased cumulative one-year survival in women (46.7% vs. 73.3% in men, P&lt;0.001) Conclusion Among STEMI patients undergoing PA, the prevalence of malnutrition and frailty are significantly higher in women than in men. NRI and frailty had an independent and complementary prognostic impact in women with STEMI. Kaplan-Meier and Cox survival curves Funding Acknowledgement Type of funding source: None

Survival Analysis of Geriatric Patients with Low Digestive Hemorrhage Attending an Emergency Department

Gerontology ◽  
2021 ◽  
pp. 1-6
Author(s):  
Ana Fernandez-Suárez ◽  
Oriol Yuguero Torres
Keyword(s):  
Emergency Department ◽  
Survival Analysis ◽  
Retrospective Study ◽  
Survival Rate ◽  
Life Expectancy ◽  
Antiplatelet Therapy ◽  
Geriatric Patients ◽  
Digestive Hemorrhage ◽  
Kaplan Meier ◽  
Number Of Individuals

<b><i>Background:</i></b> The increase in life expectancy and low mortality have doubled the number of individuals older than 65 in the last 30 years. <b><i>Methods:</i></b> We conducted a retrospective study of 101 patients older than 80 years of age treated by low digestive hemorrhage (LDH) in an emergency department during 2018. Sociodemographic variables were evaluated, as well as comorbidity and survival at 18 months. Survival was assessed by a Kaplan-Meier test. <b><i>Results:</i></b> 52.5% of the subjects were women. The average comorbidity of the sample was 1.97. The survival rate per year was 60%. The finding on colonoscopy shows no association with mortality. However, those patients on anticoagulant/antiplatelet therapy have a higher survival rate. <b><i>Conclusion:</i></b> Survival per year is high, so urgent colonoscopy for an LDH should be performed after evaluating the patient’s stability and functional status in a scheduled and outpatient manner.

scholarly journals Chronic subdural hematomas: a case series from the medical ward of a north Tanzanian referral hospital

2019 ◽  
Vol 34 (1) ◽  
Author(s):  
Sakina Mehboob Rashid ◽  
Shahrzad Seyedeh Deliran ◽  
Marieke Cornelia Johanna Dekker ◽  
William Patrick Howlett
Keyword(s):  
Mortality Rate ◽  
Case Series ◽  
Medical Ward ◽  
Sub Saharan Africa ◽  
Neurological Deficits ◽  
Definitive Treatment ◽  
Delayed Presentation ◽  
General Medical Ward ◽  
Subdural Hematomas ◽  
History Of

Abstract Background Chronic subdural hematomas (CSDH) initially present as focal neurological deficits with or without signs of increased intracranial pressure, for which admission to the general medical ward may occur if they present with poorly understood neurological deficits and no evident history of trauma. The symptoms may be long standing and mimic stroke upon presentation. Their distribution and specific clinical features in sub-Saharan Africa are largely unknown. Methods We describe a series of subdural hematoma (SDH) inpatients from the medical ward of a tertiary referral center in Northern Tanzania, describing clinical and radiological characteristics and providing clinical outcome where possible. Results Our study population numbered 30, with a male majority (n = 19, 63.3%) and a mean age of 66.8 ± 14.5 years. Mean duration from symptom onset to admission in the medical ward was 20.0 ± 30.8 days. History of head injury was reported in only 43.3% of patients. Improvement in the neurological examination was noted in 68.1% of the 22 patients who underwent surgery. The mortality rate was 20.0%. Conclusion A majority of the patients were elderly males and presented late to the hospital. Delayed presentation and diagnosis due to, amongst other reasons, postponed imaging resulted in a prolonged time to definitive treatment and a high mortality rate compared to other regions of the world.

scholarly journals Clinical Relevance of Tubular Breast Carcinoma: Large Retrospective Study and Meta-Analysis

2021 ◽  
Vol 11 ◽  
Author(s):  
Jasna Metovic ◽  
Alberto Bragoni ◽  
Simona Osella-Abate ◽  
Fulvio Borella ◽  
Chiara Benedetto ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Meta Analysis ◽  
Analysis Data ◽  
Lymph Node Involvement ◽  
Rank Test ◽  
Control Series ◽  
Tubular Carcinoma ◽  
Excellent Outcome ◽  
Kaplan Meier ◽  
Node Involvement

Background: Tubular carcinoma (TC) is a low proliferative grade 1 (G1) breast cancer (BC). Despite its favorable outcome and allegedly lower aggressiveness, patients are treated like other luminal G1 BC, with radiotherapy (RT) and hormonal therapy (HT). We performed: (1) a retrospective study comparing a TC cohort and a control series of luminal G1 BC and (2) a systematic review and meta-analysis focused on TC outcome.Materials and Methods: We selected a series of 572 G1 luminal BC patients [111 TC, 350 not otherwise specified (NOS), and 111 special-type (ST) BC] with follow-up and clinico-pathological data, who underwent local excision followed by RT at Città della Salute e della Scienza Hospital, Turin. Moreover, 22 and 13 studies were included in qualitative and quantitative meta-analysis, respectively.Results: TCs were generally smaller (≤10 mm) (P &lt; 0.001), with lower lymph node involvement (P &lt; 0.001). TCs showed no local and/or distant recurrences, while 16 NOS and 2 ST relapsed (P = 0.036). Kaplan–Meier curves confirmed more favorable TC outcome (DFI: log-rank test P = 0.03). Meta-analysis data, including the results of our study, showed that the pooled DFI rate was 96.4 and 91.8% at 5 and 10 years, respectively. Meta-regression analyses did not show a significant influence of RT nor HT on the DFI at 10 years.Conclusions: Compared to the other G1 BCs, TCs have an excellent outcome. The meta-analysis shows that TC recurrences are infrequent, and HT and RT have limited influence on prognosis. Hence, accurate diagnosis of TC subtype is critical to ensuring a tailored treatment approach.

scholarly journals Colonoscopic Review and Surgical Approach in the Management of Colorectal Carcinoma–A Retrospective Study of 50 cases

2019 ◽  
Vol 11 (2) ◽  
pp. 36-40
Author(s):  
Md Ershad Ul Quadir ◽  
Munshi Md Mojibur Rahman ◽  
Md Mahbubur Rahman
Keyword(s):  
Colon Cancer ◽  
Weight Loss ◽  
Retrospective Study ◽  
Early Detection ◽  
Colorectal Carcinoma ◽  
Rectal Carcinoma ◽  
Palliative Therapy ◽  
Treatment Modalities ◽  
Definitive Treatment ◽  
Female Ratio

Introduction: There is no exact statistics about the incidence of colorectal cancer in Bangladesh. According to National Cancer Institute, London, it is the 2nd most common cancer affecting more than 30,000 people in each year. As many patients with colon cancer do not develop symptoms until it is advanced and detection in early stage can only be achieved by screening of asymptomatic person. Maximum patients present lately with distance metastases when there is nothing to treat except palliative therapy. Objectives: To identify the risk factors, early symptoms, signs, treatment modalities, operative outcome, morbidity and mortality rate. Materials and Methods: This retrospective study was carried out at CMH Dhaka during August 2002 to August 2004. A total of 50 patients were taken as study sample. All the patients were admitted in different surgical units of CMH Dhaka for surgical treatment. Detailed history were taken on admission by a questionnaire and examined thoroughly and findings regarding Anaemia, Jaundice, Dehydration, Oedema, Lymphadenopathy, Nutritional status and abnormal signs like ascites, distension, rigidity, organomegaly recorded. Digital rectal examination were done in all cases and finally examined by Proctoscope, Sigmoidoscope and with Colonoscope. FOBT (Fecal Occult Blood Test), serum tumour marker was also assessed. Results: Out of 50 cases 22 were rectal carcinoma and next common site was caecum and number was 10. There was a variation in the sex ratio. Out of 50 cases 33 were male and 17 were female. The highest incidence was among people of 6th decade (28%) and next highest was in 4th decade (24%). Majority of patient with right colon cancer presented with abdominal pain 12 out of 22 cases (56%) and weight loss 15 cases (68%). For left colon cancer commonest symptom was weight loss and weakness and altered bowel habit. Almost all cases with rectal carcinoma presented with bleeding per rectum. Conclusion: About 50% of lesions were found in recto-sigmoid junction and male: female ratio was 1.9:1. All efforts and modern technology should be applied for early detection and treatment. The survival rate is usually very poor in rectal carcinoma. In this study most of the cases were subjected to post operative Chemo and Radiotherapy, but more were treated with neoadjuvant chemoradiation for down staging. The need for early detection of Colorectal Carcinoma (CRC) should be stressed in the form of screening patient awareness and understanding about symptomatology. Early diagnosis and definitive treatment are thereby increasing expectation of higher survival and better prognosis in patient of colorectal carcinoma. Journal of Armed Forces Medical College Bangladesh Vol.11(2) 2015: 36-40

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