Retrospective Descriptive Observational Study Research Articles

Demographic Profile and Findings of On-call Emergency Ultrasound: A Descriptive Study from Arunachal Pradesh, India

Introduction: Ultrasonography (USG) serves as a crucial diagnostic tool in emergency settings, extending beyond the assessment of the acute abdomen to encompass a wide range of acute conditions involving both superficial and deep soft tissue components of the body. Aim: To analyse the demographic profile and diagnostic findings associated with emergency USG requisitions at a tertiary care centre. Materials and Methods: A retrospective observational descriptive study was conducted in the Department of Radiodiagnosis at Tomo Riba Institute of Health and Medical Sciences (TRIHMS), Naharlagun, Arunachal Pradesh, India. Data from all emergency on-call ultrasound cases performed at TRIHMS from June 18, 2022, to June 17, 2023, were collected from the ultrasound room. A total of 258 cases of emergency ultrasounds were conducted. The age, sex and findings of emergency USG were analysed. Results were expressed in terms of frequency and percentages. Results: Among a total of 258 cases, 175 (67.8%) were females and 83 (32.2%) were males. The mean age of the participants was 29.02±11.03 years. The distribution pattern by age revealed that the most common age group was 21 to 30 years, encompassing a total of 106 patients (41.1%), with 84 females and 22 males. A total of 71 cases were registered for obstetrics and gynaecology conditions, constituting 27.5% of the total. Conclusion: Although USG is requested for many emergency conditions in the hospital, the acute abdomen remains the foremost indication for an emergency USG call.

Characteristic of Subcutaneous Mycosis Patients at Prof. Dr. I.G.N.G Hospital, Denpasar, Bali: An Observational Retrospective Study

Introduction: Subcutaneous mycosis infections can occur in tropical and subtropical countries. Indonesia’s geographic location is in a tropical country and is a developing country with the majority of its population working in agriculture, which is a risk factors associated with subcutaneous mycosis. Methods: This is a retrospective observational descriptive study with a cross-sectional design. Data were obtained through medical records from all patients who came for treatment in Prof IGNG Ngoerah General Hospital Denpasar from January 2018 to December 2023. The inclusion criteria in this study were all patients diagnosed with subcutaneous mycosis. The variables studied were age, gender, occupation, comorbidities, first symptoms, skin efflorescence, dermatoscopy finding, and type of mycosis based on yeast culture. Results: A total of 21 cases of subcutaneous mycosis within 5 years. The majority of patients were female, (67%), with the most common age group being 45-64 years (57%). Based on occupation, farmers account for at most (33%). The majority of patients had itchiness (33%) and redness (33%) as the first symptoms, nodule erythema was the most common skin efflorescence (57%), and the most common dermatoscopy finding was yellow dots (57%). The most common fungal infection based on culture was chromoblastomycosis (71%). Conclusion: The majority of patients of subcutaneous mycosis were female, with age group 45-64 years old, and farmers. Itchiness and redness were the common symptoms of the disease. On examination, nodule erythema is the most common skin efflorescence. Chromoblastomycosis was the most common type of infection.

Double positivity for rheumatoid factor and anti-CCP autoantibodies: improving referral from primary care of patients suspected of having rheumatoid arthritis.

Rheumatoid arthritis (RA) is a chronic progressive autoimmune inflammatory disease with significant morbidity and mortality. The course of the disease can be modified if diagnosis is early and treatment appropriate. In this study, we aimed to evaluate a new strategy for early identification of RA patients in primary care settings (the 'diagnostic bottleneck') based on serological biomarkers and to manage inappropriate rheumatoid factor (RF) laboratory test requests. A two-arm study was carried out. The first arm corresponded to a retrospective observational descriptive study of patients referred for RF testing from primary care using the current laboratory workflow. The second arm included the following prospective interventions: cancelation of RF requests corresponding to patients with previous negative results for RF over a one-year period; and automatic reflex testing antibodies against cyclic citrullinated proteins (anti-CCP) for patients displaying RF values >30IU/ml. Outcomes from both arms were then compared. As double positivity for RF and anti-CCP notably increases the positive likelihood ratio of RA. The intervention enabled a reduction of 2813 tests in 22 months. Moreover, the frequency of unnecessary referrals was reduced from 22% to 8.2%, while that of missed patients decreased slightly (from 21% to 16%), with the number of patients diagnosed per RF request remaining unchanged. In terms of costs, we saved 19.4 RF tests per anti-CCP test added.We developed a simple and cost-effective strategy for reducing the time to diagnosis of RA that can improve patients' quality of life. This approach was supported by primary and specialised care.

Metabolic and Bariatric Surgery Utilization Trends in the United States: Evidence From 2012 to 2021 National Electronic Medical Records Network.

Bariatric surgery has evolved over the past 2 decades yet assessing trends of bariatric surgery utilization in the growing eligible population is lacking. This study aimed to update the trends in bariatric surgery utilization, changes in types of procedures performed, and the characteristics of patients who underwent bariatric surgery in the United States, using real-world data. This retrospective descriptive observational study was conducted using the TriNetX, a federated electronic medical records network from 2012 to 2021, for adult patients 18 years old or older who had bariatric surgery. Descriptive statistical analysis was conducted to assess patients' demographics and characteristics. Annual secular trend analyses were conducted for the annual rate of bariatric surgery, and the specific procedural types and proportions of laparoscopic surgeries. A steady increase in the number of procedures performed in the United States over the first 6 years of the study, a plateau for the following 2 years, and then a decline in 2020 and 2021 (during the coronavirus disease 2019 pandemic). The annual rate of bariatric surgery was lowest in 2012 at 59.2 and highest in 2018 at 79.6 surgeries per 100,000 adults. During the study period, 96.2% to 98.8% of procedures performed annually were conducted laparoscopically as opposed to the open technique. Beginning in 2012, the Roux-en-Y gastric bypass (RYGB) procedure fell to represent only 17.1% of cases in 2018, along with a sharp decline in the adjustable gastric band (AGB) procedure, replaced by a sharp increase in the sleeve gastrectomy (SG) procedure to represent over 74% of cases in 2018. Bariatric surgery utilization in the United States showed a moderate decline in the number of RYGB procedures, which was offset by a substantial increase in the number of SG procedures and a precipitous drop in the annual number of AGB procedures.

Outcomes of Chronic Myeloid Leukemia Patients after Therapeutic Failure to Asciminib, a Multicenter Observational Study

Introduction: Asciminib has recently entered the market as a promising option for patients with chronic myeloid leukemia (CML) and therapeutic failure to ³ 2 tyrosine kinase inhibitors (TKIs). It presents a relevant rate of therapeutic success thanks to its different mechanism of action, being the first in its class to produce an allosteric inhibition on the myristoylated pocket of ABL. However, a percentage of patients fail this drug due to intolerance or resistance. This group constitutes a highly polytreated population with few therapeutic options. The aim of this analysis is to determine the most frequent treatment strategies in this setting, as well as to ascertain the prognosis in this difficult to treat group. Material and methods: a retrospective descriptive multicenter observational study was carried out. Eligible patients were those with a diagnosis of CML, >18 years and who had presented a therapeutic failure to asciminib, due to resistance or intolerance. Patients were selected from a cohort of 85 CML patients who received asciminib through a managed-access program. Results: A total of 19 patients were recruited from 17 centers in Spain. Median age at the time of therapeutic failure to asciminib was 61.7 years. Median time from diagnosis to asciminib failure was 7.9 years (range 1.7-25.5), median number of previous lines was 5. 47% of patients had previously received ponatinib and 15.8% (3/19) had received an allogeneic hematopoietic stem cell transplantation (allo-HSCT) prior to asciminib. Median time on asciminib was 5.6 months (range 0.7- 40.9). 42% of patients (8/19) failed treatment due to intolerance and 58% (11/19) due to resistance. Four of them had progression to accelerated/blastic phase at the time of withdrawal. Of the intolerant patients, the most frequent reason for discontinuation was pancreatitis (50%, 4/8). The remaining causes were renal failure (1), pleural effusion (1), fatigue (1), and neurological symptoms (1). Regarding the intolerant group, 2 patients did not require restart of treatment due to a sustained deep molecular response (MR). The rest (6/8) required treatment, which in all cases involved restarting a classic TKI that they had already received (2 imatinib, 2 dasatinib, 2 nilotinib). In 50% (3/6) dose reductions were used to control adverse events (AEs), which in 2/3 patients compromised efficacy. In another case, low-dose corticosteroid therapy was used for the management of pleural effusion, maintaining standard dose. Only 1/8 intolerant patients required an additional change of treatment, and all of them are still alive and without progression to advanced stages at the last follow-up. Regarding the patients that required treatment change due to progression to advanced phases, one patient underwent allo-HSCT. The rest were not candidates due to age or clinical impairment (1 received dasatinib, 1 hydroxyurea (HU), 1 without treatment). Only the patient who underwent HSCT is alive more than one year after the procedure with a grade 5 MR. In the rest the median overall survival (OS) was less than 1 month. Of the remaining resistant patients, 4/7 (57%) received ponatinib (1 of 4 had received it previously), 1 imatinib, 1 allo-HSCT and the other patient received cytarabine + interferon + HU. Three of 7 patients required additional lines including change of TKI (asciminib, nilotinib, dasatinib) and other strategies (HU, busulfan, interferon, cytarabine). In terms of response, only the patient undergoing HSCT maintained a mayor MR (1/7). One patient maintained a complete cytogenetic response and the other 2 patients were unable to improve response despite treatment (maintaining worse response than CHR at the end of follow-up). Two patients died (1 acute myocardial infarction, 1 digestive neoplasia). With a median follow-up of 11.2 months, OS of the global cohort is 73%; 100% for intolerant patients, 71% for resistant patients and 25% for those in accelerated/blastic phase. Conclusions: Patients who fail asciminib are a particularly difficult to manage group. In intolerant patients, dose reductions and symptomatic management of AEs may be an appropriate strategy. Resistant patients currently represent an unmet therapeutic need, with low cytogenetic and molecular response rates and poor survival with current strategies. Patients with progression to advanced phases have a dismal prognosis, HSCT may be the only option that provides long-term survival in this group.

Patient characteristics and treatment patterns for patients with advanced/metastatic gastric cancer (including gastroesophageal junction cancer) or esophageal cancer in Puerto Rico.

537 Background: The aim of the study was to describe patient characteristics and treatment patterns across lines of therapy in patients with advanced/metastatic Gastric Cancer -including gastroesophageal junction cancer- (GC/GEJC) or Esophageal Cancer (EC) in Puerto Rico (PR). Methods: This was a descriptive retrospective observational cohort study using Flatiron Health Oncology EHR database. Eligible PR adults diagnosed with advanced/metastatic GC/GEJC/EC were required to have ≥ 1 months of medical data from January 1, 2011, through April 30, 2022 (index period). The index date was defined as the date of advanced/metastatic GC/GEJC/EC diagnosis. Patients who were enrolled in clinical trials any time during the study period and with other primary cancers prior to the index date were excluded. The demographics, clinical characteristics, treatment regimen received and duration of therapy (DoT) across lines of therapy were assessed for patients categorized into GC/GEJC and EC subgroups. Results: A total of 206 patients were included in the GC/GEJC (n= 115) and EC (n=91) subgroups. The mean follow-up time from index date was 15.6 and 15.7 months (GC/GEJC and EC, p=0.977). Patients in both subgroups had a similar mean age of 66.8 and 68.3 (GC/GEJC and EC; p=0.328). Among patients who had a ECOG evaluation the 0-1 status was similar 88.5% and 87.1% (GC/GEJC and EC; p=0.297). Patients (GC/GEJC vs EC for all) differed in the percentage of males (59.1% vs 81.3%, p=0.001), stage IV at initial diagnosis (57.4% vs 37.4%, p=0.003) and smoking history (30.4% vs 52.7%, p=0.005). Most patients received at least one line of therapy 79.1% and 84.6% (GC/GEJC and EC, p=0.313). 89.9% of patients in first line (1L) therapy received chemotherapy either as monotherapy or in combination. 32.2% vs 39.6% (p=0.271) GC/GEJC and EC patients received second line (2L) therapy while 12.2% vs 13.2% (p=0.828) received third line (3L) and beyond. The median DoT in 1L was 3.1 and 2.3 months, for 2L was 2.1 and 3.6 months; and for 3L or more, 1.7 and 3.2 months for GC/GEJC and EC, respectively. Conclusions: Most patients in PR with advanced/metastatic GC/GEJC or EC received first-line treatment while only a third of patients received second line. In all lines of therapy, the duration of treatment for both cohorts was short.Future studies with a larger sample are warranted.

Persistence of secukinumab in patients with psoriasis, psoriatic arthritis, and ankylosing spondylitis

ObjectiveTo determine persistence of treatment with secukinumab across its different indications. MethodThis is a retrospective descriptive observational study including adult patients treated with secukinumab in its different indications from the drug's introduction in November 2015 to October 2019. The variables included were sex; age; diagnosis; initiation date; line of treatment; number of patients who discontinued treatment and reason for discontinuation; overall persistence at 12 months; distribution of patients; and persistence according to indication, line of treatment and reason for suspension. ResultsOne-hundred forty-three patients were started on secukinumab, but only patients who had been in treatment at least 12 months before the end of the study were included. Mean patient age was 49.8 years (±12.6); 52.9% were men. Fifty-six patients (53.8%) had discontinued treatment by the end of the study, with a mean duration of treatment of 12.7 months (±10.2). The other patients (n = 48) continued with their therapy. Mean duration of treatment in these patients was 25.7 months (±9.9). Overall persistence at 12 months was 10.0 months (±3.3) with a discontinuation rate at 12 months of 31.7%. Persistence at 12 months was 10.7 months (±2.9) for patients with psoriasis, 9.7 months (±3.4) for patients with psoriatic arthritis, and 8.8 months (±3.8) for those with ankylosing spondylitis. Of the 48 patients who continued with their treatment after completion of the study, 22 (45.8%) received the drug as first-line treatment. Of the 56 discontinuations, 15 (26.8%) were due to primary failure (persistence: 3.8 months [±1.1]) and 27 (48.2%) were due to secondary failure (persistence: 18.6 months [±9.6]). Persistence in patients who continued treatment was higher in psoriasis (28.8 months [±10.3]). In those who discontinued due to secondary failure it was higher in the group with ankylosing spondylitis (28.0 months [±4.2]). Persistence among patients on first-line secukinumab was higher than for other patients: 21.2 months (±7.2) if they stayed on treatment, 3.5 months (±0.5) if they presented with primary treatment failure, and 8.3 months (±2.5) in those with secondary treatment failure. ConclusionsOur data show slightly higher persistence levels in patients with psoriasis and lower discontinuation rates in those without previous exposure to biological therapy. Long-term studies are needed to confirm these findings and to gain a better understanding of the factors that can influence persistence of secukinumab.

Relationship Between Sonographic Findings, Fine Needle Aspiration, and Histopathological Findings of Post-thyroid Surgery.

Thyroid diseases can affect various bodily functions and often go unnoticed. Tools such as sonography and fine needle aspiration (FNA) puncture are necessary to diagnose diseases that require surgical intervention. These tools help identify signs of malignancy or benignity and obtain further data to guide therapeutic decisions. This study aims to validate the relationship between sonographic results, FNA, and final thyroid pathology. This research describes the level of correlation between sonographic findings and FNA, the sonographic and final pathology reports, and the FNA and final pathology reports. Additionally, this research aims to identify the most common diagnoses in the final pathology. A retrospective descriptive observational study was carried out with a sample of 95 patients who underwent thyroid surgery at the National Institute of Diabetes, Endocrinology, and Nutrition (INDEN), Dominican Republic, in 2019 to determine whether a relationship exists between the sonography findings, FNA, and the final pathology in surgical thyroid pathologies. A total of 95 patients were studied. The success rate of the sonography results compared with the benign final biopsy result was 100% and 45.9% with the malignant final biopsy result. The success rate of the fine needle biopsy results was 95.9% for the benign final biopsy and 28% for the malignant final biopsy. Of the malignant final biopsy reports, 84.6% were papillary carcinomas, 7.7% were follicular carcinomas, and 7.7% were medullary carcinomas. The relationship between the sonographic results, FNA, and histopathological findings of surgical thyroid diseases is validated. The sonographic findings are specific for diagnosing benignity and malignancy. A fine needle biopsy is useful for diagnosing benignity, and the final biopsy is the standard for confirming both benign and malignant pathologies.

Investigation of morbidity, length of stay, and healthcare costs of inpatient paediatric burns.

Burn injuries are the third most common cause of death in children due to trauma. Hospitalizations related to burn injuries are common. Prolonged hospitalization associated with burn treatment can result in increased resource utilization, leading to higher costs. Thus, it is essential to investigate these areas to reduce costs. The study investigated the morbidity and length of hospital stay of paediatric burn patients, as well as calculated the social security costs of hospitalization and treatment. The retrospective observational descriptive study examined the medical records of 774 paediatric patients treated in a burn intensive care unit at a tertiary medical faculty hospital between 01 March 2019 and 31 March 2022. The invoice records of payments made by the Social Security Institution to the hospital in return for health services provided to patients were examined. The healthcare costs were calculated. A total of 57.6% of the participants were boys and 79.2% were between the ages of 1-4. About 90% of the cases involved burns with a total body surface area (TBSA) of less than 20% and a 2nd-degree burn depth. Scalding was the most common cause of burns (88.2%). Among all patients, the mortality rate was 2.1% (n = 16). The mean length of hospital stay was 10.29 ± 9.59 days. The mean cost per day was 212.02 ± 190.94 US dollars ($US), and the cost per 1% TBSA was 241.70 ± 301.32 $US. According to the causes of burn injury, the mean cost of electricity was 5000.77 ± 8101.85 $US, fire 4818.02 ± 5852.22 $US, and chemical 3285.49 ± 4503.2 $US were observed in the first 3 ranks respectively. According to this study, paediatric burn cases occur due to preventable causes, and even though the mortality rate was low, the severity of burns, TBSA%, and presence of complications caused prolonged lengths of hospital stays, which caused social security costs to rise.

Clinical laboratory testing in the emergency department: a six-year analysis

Abstract Objectives This study aimed to examine the utilization of clinical laboratory services in the emergency department and to identify the changes in their usage over six years. Methods Our study is a retrospective descriptive observational study. The study includes emergency room visits between January 01, 2016, and January 01, 2022, and the analysis of the tests requested during this period. Results When the number of tests requested among the patients in the emergency departments was considered, the highest rate belonged to complete blood count (109,696,468), which was followed by creatinine (98,027,489) and potassium (94,583,831). In addition to an increase in the number of C-reactive protein (CRP) tests (118.82 %), coagulation parameters such as D-dimer (1,180.95 %) and fibrinogen (315.25 %) showed an increasing trend after the onset of pandemia. Conclusions The most frequently used tests in the emergency department were complete blood count, creatinine, potassium, blood urine nitrogen (BUN), aspartate aminotransferase (AST), alanine aminotransferase (ALT), and Na, ferritin, fibrinogen, CRP, and D-dimer have increased over the last two years due to their clinical use in predicting the outcome of COVID-19.

Outbreak of Gastrointestinal Infections Caused by Yersinia enterocolitica in Children, Medellín, Colombia

Abstract Objective In this study, we describe the clinical and epidemiological characteristics of a cluster of children with acute gastrointestinal (GI) infection caused by Yersinia enterocolitica in Medellín, Colombia. Methods A retrospective descriptive observational study was performed with the information recorded in clinical charts of GI infection cases caused by Y. enterocolitica in pediatric population of two hospital institutions in Medellín, Colombia. The microorganism identification was performed directly from stool samples using molecular biology techniques and from stool cultures using mass spectrometry. Space-time simulations and antibiotic susceptibility profiles were performed using Whonet 5.6 and Clinical and Laboratory Standards Institute 2020 guide. Results A total of 37 cases were identified in children younger than 15 years; between November 2020 and January 2021, 45.9% of cases were in children aged 1 to 5 years. Most children had diarrhea (97.3%) and fever (67.6%), 21.6% had abdominal pain and vomiting, and 13.5% had hyporexia. Sixteen of the patients (43.2%) received azithromycin, 24.3% (n = 9) received ceftriaxone, and 13.5% (n = 5) received a combined treatment of ceftriaxone and azithromycin or azithromycin and metronidazole. Based on space-time simulations, the clonality analysis and the characteristics of the cases suggest a community outbreak of unknown origin. Conclusion Our findings confirm the occurrence of an outbreak related to Y. enterocolitica from the community whose source could not be identified. Although it is presumed that the frequency of this microorganism is low in these regions, the use of new diagnostic tools in clinical microbiology allowed the early identification of the epidemiological event.

Étude exploratoire de la mise en place de l’Early Start Denver Model en France

BackgroundThe Early Start Denver model is one of the interventions recommended by the French High Authority on Health since 2012 for the very early care of children with Autism Spectrum Disorders. This program, developed in the United States, has shown the best evidence of effectiveness in an intensive form of delivery that is difficult to generalize to other culturally different contexts. Consequently, its implementation in the French health care system has required some adaptations that have not yet been evaluated. After a summary of the method's features and the results of studies of its effectiveness, this first retrospective descriptive observational study aims to characterize the implementation and practice of this intervention in France. In doing so, it also aims to better understand the potential obstacles to the implementation of early intervention and thus propose avenues for improvement. Material and methodA census of French units offering the Denver model was conducted from June to October 2020. A questionnaire sent to the participating units made it possible to explore different dimensions: first, the characteristics of these units, including their composition. Secondly, their integration into the care network and the children's care pathway. Practice and delivery modalities were also assessed. Finally, the objective was to highlight the difficulties that the teams may have faced when implementing the model. The data were collected in Microsoft Excel® software in order to perform a descriptive statistical analysis. ResultsIn total, 92% of the units surveyed participated in the study and returned the questionnaire. Our results highlight a significant heterogeneity in the deployment of the Denver method at the national level and underline the limit of resources available in the territory, particularly in its intensive delivery form. ConclusionFurther research is still needed to study the feasibility and effectiveness of ESDM interventions deployed in the specific context of the French healthcare system. In addition, significant work remains to be done to establish rapid and identifiable pathways for early intervention in young children with ASD.

Clinicopathological Profile of Colorectal Cancers in a Tertiary Care Hospital of Central, Nepal

IntroductionThere is an increasing incidence of colorectal carcinoma (CRC) in developing countries like Nepal. The objective of this research is to study the CRC its demography, mode of presentation, type of surgery, complications and Histopathological evaluation (HPE) after surgery.MethodsThis was a retrospective descriptive observational study at College of Medical Sciences, Bharatpur, Nepal. Patients diagnosed with colorectal cancer admitted to gastrointestinal surgery department from July 2019 to June 2022 (3 years) were included. Data of patients were retrieved from hospital records. Pre-operative, intra-operative and post-operative diagnosis of CRC on HPE were also included in the study.ResultsOut of 52 CRC, males were 30 (57.7%) and females were 22 (42.3%), mean age was 52.7 years. Overall, left colon was affected in 33 (63.5%) and right in 19 (36.5%). More than one quarter of patients 14 (26.9%), had disease recurrence by 6 months follow-up. HPE revealed half of the disease condition as adenocarcinoma, moderately differentiated in (50%) cases.ConclusionsColorectal cancer is predominant in male patients and older age group. Incidence is high in younger people <40 years and low in extreme age group >80 years. Meticulous surgery is the only proven cure for malignancy.

Brain FDG-PET correlates of saccadic disorders in early PSP.

New diagnostic criteria of Progressive Supranuclear Palsy (PSP) have highlighted the interest of Eye Movement Records (EMR) at the early stage of the disease. To investigate the metabolic brain correlates of ocular motor dysfunction using [18F] Fluorodeoxyglucose Positron Emission Tomography (FDG-PET) in early PSP. Retrospective observational descriptive study on longitudinal data with patients who underwent EMR and FDG-PET at the stage of suggestive and possible PSP according to Movement Disorders Society criteria. Longitudinal follow-up enables to confirm diagnosis of probable PSP. Using the Statistical Parametric Mapping software, we performed whole-brain voxel-based correlations between oculomotor variables and FDG-PET metabolism. Thirty-seven patients with early PSP who fulfilled criteria of probable PSP during the follow-up were included. Decrease in the gain of vertical saccades correlated with reduced metabolism in Superior Colliculi (SC). We also found a positive correlation between mean velocity of horizontal saccades and SC metabolism as well as dorsal nuclei in the pons. Finally, increase in horizontal saccades latencies correlated with decrease of posterior parietal metabolism. These findings suggest the early involvement of SC in saccadic dysfunction in the course of PSP.

#4440 PREVALENCE OF GENES INVOLVED IN HEREDITARY KIDNEY DISEASE AS A TOOL FOR THE DEVELOPMENT OF A GENE PANEL

Abstract Background and Aims Genetic study is the fundamental tool for the diagnosis of Hereditary Kidney Diseases (HKD). The proliferation of its use has led to an increase in diagnostic complexity due to phenotypic overlap and genotypic heterogeneity. The aim of this study is to evaluate the prevalence of genes in our series of adult patients with suspected monogenic kidney disease in order to develop the basis for the elaboration of a gene panel that will make its usefulness in our routine clinical practice profitable. Method A retrospective descriptive observational study was performed with the collection of all genetic studies that were positive in the period between October 2014 and December 2020 in our center. With a description of the causative genes involved, as well as the clinical data of the proband patients who turned out to be carriers of these variants. Descriptive results of continuous variables are expressed as mean and standard deviation (SD) or median and interquartile range (IQR) according to their distribution. For categorical data, frequency and percentage are reported. Results The results of a total of 77 genetic studies on probands were collected, of whom 51% were women with a mean age at diagnosis of 46 years (SD ± 13.4) and 64.9% had a family history of kidney disease. Renal function measured by mean estimated glomerular filtration rate (eGFR) using the CKD-EPI (CKD Epidemiology Collaboration) was 90.1 ml/min/1,73 m2 (SD ± 29.64) with a mean proteinuria quantified in 24-hour urine of 627.9 mg (SD ±43.7) and 7.7% were on renal replacement therapy. (Table 1) 40.25% of probands were carriers of a mutation for Alport syndrome, in this group the most frequent gene was COL4A3 in 50% of cases. The second most frequent entity was autosomal dominant polycystic kidney disease (ADPKD) with 37% of the studies and among these the great majority were carriers of a variant in the PKD1 gene with 96.5%. The remaining diagnostic entities in order of frequency were Fabry disease, autosomal dominant tubulointerstitial nephropathy (ADTKD), congenital anomalies of the kidney and urinary tract (CAKUT), nephrotic syndrome, hereditary angiopathy with nephropathy, aneurysm and cramps syndrome (HANAC) and tuberous sclerosis (Figure 1). Conclusion Alport syndrome was the most frequently identified entity in patients with suspected monogenic renal disease in whom the genetic study was performed. Based on the results of our series, a proposal has been made for the genes to be included in a panel for hereditary renal diseases in our center. The development of these panels increases the efficiency and increases the cost-effectiveness of genetic studies in the diagnosis of these patients.

Medico legal aspects of medical malpractice dead cases in Cairo and Giza governorates from 2014–2015

BackgroundIn Egypt, as elsewhere around the world, there are more medical malpractice claims and lawsuits being brought against doctors and hospitals. The present study attempts to identify the medico-legal aspects of medical malpractice cases, determine the most frequent causes of medical errors, and the most medical specialities facing this problem and their qualifications. Find out the positive cases from the negative ones, and determine the causes of their death.MethodsThis study is a retrospective descriptive observational study of medical malpractice dead cases in Cairo and Giza governorates from the available records and reports of the Forensic Medical Authority from the 1st of January 2014- to the 1st of January 2015 which included 112 cases with alleged medical malpractice dead cases. The outcomes of forensic autopsies were used to distinguish between positive and negative cases.ResultsAccording to the socio-demographic data of the claimed cases, the female cases (53.6%) dominated the male cases (46.4%). The majority of accusations of medical errors were submitted due to negligence (73.68%), followed by complications within surgical therapy (15.79%). In the study, claims against obstetricians were the highest (24.1%), followed by those against anesthesiologists (20.5%), and general surgeons (17%). university hospitals have the highest percentage of positive cases (75%), followed by insurance hospitals (25%), private hospitals (15.6%), and public hospitals (11.1%).ConclusionsThe majority of the studied cases were female. Obstetricians had the most accusations in the study and the most positive cases. The most frequent medical error in the study is negligence. All of the study's cases of obstructed labour are positive, but none of the cardiac arrhythmia or heart failure cases are. The majority of cases at university hospitals were positive and the majority of cases at public hospitals were negative.

Microbiological analysis and predictors of gallbladder infection with antimicrobial susceptibility patterns in an HIV setting.

Background South Africa has a high prevalence of people living with human immunodeficiency virus (HIV; PLWH) who have shown to affect the prevalence and severity of infection and sepsis particularly gallbladder disease. Empirical Antimicrobial (EA) therapy for acute cholecystitis (AC) is based largely on bacteria colonisation of bile (bacteriobilia) and antimicrobial susceptibility patterns (antibiograms) obtained from the developed world where the prevalence of PLWH is very low. In an ever-emerging era of increasing antimicrobial resistance, monitoring and updating local antibiograms is underscored. Objective Due to the paucity of data available locally to guide treatment we found it pertinent to examine gallbladder bile for bacteriobilia and antibiograms in a setting with a high prevalence of PLWH to determine if this may demand a review of our local antimicrobial policies for gallbladder infections for both EA and pre-operative antimicrobial prophylaxis (PAP) for laparoscopic cholecystectomies (LC). Methodology A retrospective observational descriptive study was undertaken at King Edward VIII Hospital, Durban, KwaZulu-Natal, South Africa. Hospital records were reviewed for all patients undergoing cholecystectomy over a 3-year period. Gallbladder bacteriobilia and antibiograms were assessed and compared between PLWH and HIV uninfected (HIV-U). Pre-operative age, ERCP, PCT, CRP and NLR were used as predictors for bacteriobilia. Statistical analyses were performed using R Project and p values of less than 0.05 were considered as statistically significant. Results There were no differences in bacteriobilia or antibiograms between PLWH and HIV-U. There was >30% resistance to amoxicillin/clavulanate and cephalosporins. Aminoglycoside-based therapy, had good susceptibility patterns whilst carbapenem-based therapy demonstrated the lowest resistance levels. ERCP and age were predictors of bacteriobilia (p<0.001 and 0.002 respectively). PCT, CRP and NLR were not. Conclusion PLWH should follow the same PAP and EA recommendations as HIV-U. For EA, we recommend, a combination of amoxicillin/clavulanate with aminoglycoside-based therapy (amikacin or gentamycin) or piperacillin/tazobactam as monotherapy. Carbapenem-based therapy should be reserved for drug resistant species. For PAP, we recommend the routine use in older patients and patients with history of ERCP undergoing LC.

Microbiological Analysis of Semen Samples in Male Partners of Couples Attending a Fertility Clinic in a Tertiary Care Hospital, Jaipur

ABSTRACT Background: The natural capability to produce offspring is termed as fertility. As the growing world is flourishing with modern means and advances in technology, there is a sharp fall in the birth rate all over. Many developing countries including India are now struggling with this issue. Bacterial infection of the male genitourinary tract is one of the key factors responsible for male infertility. These pathogenic bacteria induce an alteration in semen parameters, such as sperm count, morphology, and motility which are predictors of male fertility potential. Material and Methods: This is a retrospective descriptive observational study and includes culture reports of 388 semen samples of adult men attending the infertility clinics over a 3-year study period. Sample inoculation was done on culture media plates and incubated for 18–24 h at 37°C. Culture identification and antibiotic susceptibility testing were done using VITEK 2-automated system. Result: Eighty-one samples showed growth of single isolate and were further processed. The majority of the patients were 26–30 years of age, followed by 31–35 years. Gram-positive isolates outnumbered the gram-negative isolates (58% vs. 42.0%). The antimicrobial susceptibility pattern of gram-negative isolates showed maximum resistance against third-generation cephalosporins (70.6%), followed by cotrimoxazole (54.5%) and flouroquinolones (50.0%). Amongst gram-positive isolates, high degree of resistance was observed against tetracycline (89.4%) and fluoroquinolones (72.3%). Conclusion: Urogenital infections in males have been found to be associated with a reduction in fertility. Though these patients may be completely asymptomatic, these infections are known to reduce the sperm counts and motility. Proper bacteriological profiling of these patients is thus an important part of diagnostic workup.

Use of rigid retrograde ureteroscopy in patients with ureteral lithiasis

Objective: To characterize patients diagnosed with ureteral lithiasis operated by ureteroscopy at the “Dr. Antonio Luaces Iraola” from Ciego de Ávila from December 2017 to November 2022. A retrospective longitudinal descriptive observational study was carried out. The universe consisted of 56 patients and 54 were studied by intentional non-probabilistic sampling. Results: Most of the patients were between 40 and 60 years old, white-skinned, male, normal weight, and residents of Ciego de Ávila. More than half of the stones measured between ten and fifteen millimeters, and the lower ureteral third was the most frequent location, urinary tract infection was the most frequent complication, as well as a hospital stay of three to seven days. Conclusions: It was found that lithiasis was more frequent in male patients, with white skin, between the fourth and sixth decade of life. The stones were located mainly in the lower third of the ureter. After ureteroscopy, almost all subjects were stone-free, complications were rare, and hospitalization was generally less than seven days.

Correlation Between Computed Tomography Severity Score and Patient Prognosis In Cases of Covid-19 Pneumonia: A Retrospective Study

Objective: To Find the association between CT severity score and patient prognosis in cases of COVID-19 pneumonia in a tertiary care hospital in Lahore. Method: It was a retrospective descriptive observational study, carried out at Chaudhary Muhammad Akram Teaching and Research Hospital, Lahore. We enrolled 80 patients clinically suspected of having COVID-19 pneumonia and showing characteristic HRCT features of the same in our study using consecutive sampling technique. Patient prognosis was classified into patients recovered and patients expired. A CT severity score (CTSS) consisting of 25 points wasdeployed to categorize disease as mild, moderate and severe. Statistical package for social sciences (SPSS) version 20 was utilized for statistical analysis.Association between patient prognosis and CT severity scoreof COVID -19 infection was studied by applying the Pearson correlation. Results: 19 (100%) out of 19 patients with mild CTSS recovered, 32 (80%) out of 40 patients with moderate CTSS recovered while 8 (20%) expired and 11 (52.4%) out of 21 patients with severe CTSS recovered while 10 (47.6%) expired.A statistically significant positive association (p = 0.001) was observed between patient prognosis and CT severity score in COVID-19 patients. Conclusion: A positive association exists between CT severity score and patient prognosis in cases of Covid-19 pneumonia