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Remimazolam is made by combining midazolam and remifentanil as an alternative to conventional sedatives. To evaluate the efficacy of remimazolam for sedation in patients undergoing colonoscopy, we conducted a systematic review and meta-analysis of the available randomized controlled trials (RCTs) comparing remimazolam and midazolam. A search was conducted using PubMed, Cochrane Library, and clinicaltrial.gov from inception till December 26, 2021, for RCTs that investigated the efficacy of remimazolam during the above-mentioned procedure. There was no restriction of language. A quality assessment was performed using the Cochrane Risk-of-Bias tool. The data were pooled, and a meta-analysis was completed. The systemic review was conducted in accordance with the Preferred Reporting Items for Systemic Reviews and Meta-Analysis (PRISMA) guideline statement. Three randomized controlled trials involving 539 patients were included in the meta-analysis. Compared with midazolam during colonoscopy, remimazolam results in reduced need for top-up doses (RR= 3.45, 95% CI=1.07 to 11.14; P=0.04, I2=84%). The need for rescue medication was reduced with remimazolam as compared to midazolam (RR=2.42, 95%CI=1.04 to 5.61; P=0.04, I2=96%). There was no significant difference observed between the two drugs on completion of colonoscopy and the overall procedural sedation, but the sensitivity analysis favored remimazolam over midazolam for procedural sedation (RR=4.08, 95%CI=2.35 to 7.09; P<0.00001, I2=39%). This analysis demonstrates the advantages of remimazolam over other agents and sets a platform for relevant future studies.
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Introduction A systematic review and meta-analysis of the available randomized controlled trials (RCTs) were conducted to investigate the efficacy and safety of dotinurad in hyperuricemic patients with or without gout. Dotinurad is a novel selective urate reabsorption inhibitor (SURI) that increases uric acid excretion by selectively inhibiting urate transporter 1 (URAT1). To the best of our knowledge, this is the first meta-analysis conducted to gauge the efficacy and safety of dotinurad. Methods Electronic databases (PubMed, the Cochrane Library, and ClinicalTrials.gov) were searched from inception till March 2, 2021, according to the Preferred Reporting Items for Systematic Review and Meta-Analysis statement. Randomized controlled trials comparing the efficacy and safety of dotinurad with placebo- or active (febuxostat or benzbromarone) control were included. The eligible studies were analyzed with RevMan 5.3 Software (The Nordic Cochrane Centre, Cochrane Collaboration, Copenhagen). Results Four eligible studies, consisting of 684 hyperuricemic patients were included. The number of patients who achieved serum uric acid (sUA) levels ≤ 6.0 mg/dl favoured dotinurad 1 mg group as compared to placebo group (risk ratio {RR} = 39.27, 95% onfidence interval {CI}, 5.59 to 275.65; p = 0.0002), dotinurad 2 mg group compared with placebo group (RR = 45.36, 95% CI, 6.48 to 317.38; p= 0.0001), and dotinurad 4 mg group compared with placebo group (RR = 54.16, 95% CI, 7.76 to 377.77; p < 0.0001). Conversely, there was no significant difference in the number of patients who achieved the target sUA levels between dotinurad 2 mg and active control (RR = 1.00, 95% CI, 0.92 to 1.08; p = 0.91). Moreover, the percentage change in sUA levels from baseline to final visit favoured dotinurad 1 mg vs. placebo ((RR = 36.51, 95% CI, 33.00 to 40.02; p < 0.00001), dotinurad 2 mg vs. placebo (RR = 46.70, 95% CI, 42.53 to 50.87; p < 0.00001), and dotinurad 4 mg vs. placebo (RR = 63.84, 95% CI, 60.51 to 67.16; p < 0.00001), while no significant difference was seen in dotinurad 2 mg vs. active control (RR = -0.08, 95% CI, -4.27 to 4.11; p= 0.97). Compared with active or placebo control, dotinurad 2 mg showed no significant difference in the number of events of gouty arthritis (RR= 1.31, 95% CI, 0.47 to 3.71; p = 0.60), the number patients with adverse events (RR = 1.09, 95% CI, 0.91 to 1.30; p = 0.36), and the number of patients who experienced adverse drug reactions (RR = 1.00, 95% CI, 0.68 to 1.47; p = 0.99). Conclusion Dotinurad shows significant improvement in serum uric acid levels in hyperuricemic individuals with or without gout. Its urate-lowering effect is comparable to the commonly available anti-hyperuricemic agents. Moreover, it is effective at doses 1 mg, 2 mg, and 4 mg and well-tolerated at a dose of 2 mg.
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Background As of January 19, 2021, around two million fatalities and 68 million recoveries from coronavirus disease 2019 (COVID-19) have been reported around the globe. The past pandemics of severe acute respiratory syndrome (SARS) and the Middle East respiratory syndrome (MERS) hint toward a risk of occurrence of "Long-COVID" syndrome, i.e., the persistence of post-discharge symptoms among COVID-19 survivors. With the scarcity of literature addressing post-COVID-19 manifestations and little regard for the stigma associated with this disease, survivors' rehabilitation remains widely neglected. The current study aims to assess the prevalence and characteristics of post-COVID-19 manifestations and their effect on the quality of life (QoL) of COVID-19 recovered individuals. We have also analyzed the relationship of time since the recovery of COVID-19 and its severity with the post-discharge symptoms. The stigma affiliated with the infection of SARS coronavirus-2 (SARS-CoV-2) has also been highlighted. Methodology A descriptive, cross-sectional, questionnaire-based study was conducted from September 2020 to December 2020 among 158 COVID-19 recovered patients, whose information was obtained from Dow Diagnostic Laboratory, Ojha Campus, Karachi, Pakistan. The questionnaire consisted of four sections: sociodemographic data, post-COVID-19 manifestations, questions relating to the stigma, and the QoL of the recovered COVID-19 patients. We used the EuroQol five-dimension five-level questionnaire to assess the QoL, while the modified BG Prasad Socioeconomic Classification updated for 2019 was employed to determine the socioeconomic status of the participants. Data were analyzed using SPSS version 24.0 (IBM Corp., Armonk, NY, USA). Data were presented in the form of frequencies and percentages. Results An overwhelming majority (94.9%) experienced at least one post-COVID-19 symptom, with fatigue (82.9%) being the most prevalent post-discharge manifestation. We observed a significant correlation of post-COVID-19 symptoms with gender, age, and time since recovery. COVID-19 severity was found to be significantly related to the five dimensions of the QoL. A significant difference in EuroQol Visual Analog Scale health score was observed between the participants with mild, moderate, and severe COVID-19 infection (p < 0.001). Besides, the associated stigma with SARS-CoV-2 infection was found to be more prevalent in the participants belonging to the upper class as compared to the other classes (p < 0.05). Nonetheless, we also observed a significant association of disease severity with post-COVID-19 manifestations and pre-existing comorbidities. Conclusions The long-COVID syndrome is similar to the post-discharge manifestations of the survivors of prior pandemics of SARS and MERS. Multi-disciplinary rehabilitation teams, healthcare workers, and the general population should recognize the need for systematic assessment of their recovery and further rehabilitation.
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Protein C (PC) and protein S (PS) are natural anticoagulants that protect the body against thrombosis, and their deficiency, either inherited or acquired, renders the body to a hypercoagulable state. This leads to venous thromboembolism manifesting as thrombosis, pulmonary embolism and superficial thrombophlebitis among other causes. The involvement of arteries is rare and has been explained by only a few studies. Hence, the presentation of PC and PS deficiencies with stroke and myocardial infarction (MI) is rarely observed, especially in young patients. We report a case of a 33-year old male with a past medical history of stroke and MI for which no underlying cause was found. He presented now with shortness of breath and left-sided chest pain and after a series of workup, eventually diagnosed as a rare case of PC and PS deficiencies.
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Hereditary thrombophilia (HT), including the mutation of factor V gene and the deficiency of proteins C, protein S, or antithrombin, is a risk factor for portal vein thrombosis (PVT). PVT in acute cases is usually asymptomatic, whereas chronic cases mostly present as variceal bleeding and splenomegaly. However, cavernous transformation of the portal vein secondary to a long-standing PVT is very rare. Here we present a case of a 28-year-old female who was admitted with complaints of left upper abdominal pain and swelling for four to five years. Using laboratory and radiological examinations, a confirmatory diagnosis of cavernous transformation of a thrombosed portal vein due to protein C and S deficiency was made. The patient was managed through splenectomy with splenorenal shunting along with life-long prescription of anticoagulants.
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Protein C (PC) is a 62-kD vitamin K dependent glycoprotein produced by the liver as a zymogen and is activated by binding to the thrombin-thrombomodulin complex, with protein S (PS) acting as a cofactor. Among its various functions, PC acts as a naturally occurring anticoagulant and its deficiency, either homozygous or heterozygous, predisposes the individual to a state of thrombosis, particularly venous thromboembolism, and mainfests as myocardial infarction (MI), deep venous thrombosis, pulmonary embolism, or stroke. This review discusses the pathophysiology of the anticoagulatory effect of PC, mode of inheritance of its deficiency, the arterial and venous involvement in patients with stroke, and its risk factors. A detailed analysis of published case reports on PC deficiency as a causative agent of stroke in young adults has also been included along with the management of such patients.
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Tuberculosis (TB) is a chronic infection caused by Mycobacterium tuberculosis (M. TB). It is transmitted through respiratory droplets. Increased cholesterol level is a predisposing factor for TB. M. TB uses cholesterol in the host macrophage membranes to bind and enter the macrophages. Statins are the drugs that are prescribed to hyperlipidemic patients to maintain their lipid levels in the normal range, thereby reducing the risk of stroke and cardiovascular events. Moreover, statins aid in reducing the levels of cholesterol in human macrophages. Therefore, a reduction in the membrane cholesterol minimizes the entry of TB pathogen inside macrophages. Furthermore, acting as vitamin D3 analogs and positively influencing pancreatic beta-cell function in a chronic diabetic state, statins minimize the occurrence of M. TB infection among diabetic population as well. This review aims to provide a comprehensive detail of all in vitro, in vivo, and retrospective studies that investigated the effects of statins in relation to the prevention or treatment of TB infection.
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Nonketotic hyperglycinemia (NKH) is an autosomal recessive disorder caused by a defect in glycine cleavage enzyme. It leads to the accumulation of glycine in the body tissues, blood, and cerebrospinal fluid (CSF). Most NKH cases are diagnosed during the natal period of life and are fatal if not promptly diagnosed and managed. Here we present a case of a two-day-old child who presented with reluctant feeding and lethargy. She had reduced tone in all four limbs and a Glasgow Coma Scale score of 9. Keeping an infectious etiology in mind, she was started on cefotaxime and amikacin. The patient was shifted to the neonatal intensive care unit; however, no improvement in the patient's condition was seen and antibiotics were changed to linezolid and meropenem along with initiation of acyclovir. The patient's blood and CSF cultures were negative. Serum amino acid chromatography showed elevated levels of glycine, and a diagnosis of NKH was made. The patient was managed symptomatically but expired on the 22nd day of admission. The case highlights the importance of prompt diagnosis and management of aminoacidopathies. Nearly all metabolic disorders have similar clinical presentations, and an early diagnosis can improve the outcome in patients.
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Osteopetrosis comprises a group of rare inherited disorders of the bones characterized by a common radiographic finding of increased bone thickness. The disorders vary genetically as well as clinically, and range in severity from mild manifestations to fatal complications based on the type of the disorder. Malignant infantile osteopetrosis (MIOP) is a less common, more severe form of the disease with most affected individuals surviving up to only the first few years of life if left untreated. We present a previously diagnosed case of the malignant infantile type who was brought to our attention for convulsions. Antiepileptic medications were started along with supportive therapy. CT scan revealed a large frontal lobe hemorrhage, which was suspected as a possible cause of the seizures, other than the progressively worsening hypocalcemia. Laboratory investigations also revealed pancytopenia and blood cultures positive for staphylococci, which were treated accordingly. Genetic testing and hematopoietic stem cell transplantation could not be performed due to financial constraints and the rapidly deteriorating condition of the patient. Unfortunately, the baby expired two weeks from the day of admission. This case highlights a rare and grave clinical manifestation of MIOP and brings to attention the significance of bone marrow transplantation as the only curative therapy of the disease.
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Postural orthostatic tachycardia syndrome (POTS) is an autonomic disorder characterized by symptoms such as palpitations, dyspnea, chest discomfort, and lightheadedness affecting various systems. The pathophysiology of POTS is not completely understood due to a variety of symptoms showing that the disease is multifactorial. There is no approved uniform management strategy for POTS and hence, no drug has been approved by the United States (US) Food and Drug Administration (FDA) for it. Ivabradine is an FDA-approved drug for stable symptomatic heart failure (HF) and patients with an ejection fraction (EF) of ≤35%. Previous studies have depicted improvement in symptoms of POTS with the use of ivabradine. It is a selective inhibitor of funny sodium channels (If) in the sinoatrial (SA) node cells resulting in the prolongation of the slow diastolic depolarization (phase IV) and reduction in the heart rate (HR). Although beta-adrenoceptor blockers are commonly used to lower HR in patients with POTS, they are less ideal due to numerous adverse effects. This review aims to provide a comprehensive and up-to-date picture of all the studies and case reports that utilized ivabradine for the treatment of POTS along with a precise overview of epidemiology, pathophysiology, and types of POTS. To conclude, we recommend further research on the effectiveness of ivabradine in patients who experience symptoms of POTS. Other than stable chronic angina pectoris, its application in this setting has been proven to be effective and safe. Further evaluation by means of randomized control trials is required to encourage use of this HR-lowering agent in common disorders other than HF and stable angina, i.e. POTS.
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Since its origin in China, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has become a pandemic and spread to 209 countries. As coronavirus disease 2019 (COVID-19) is a very rapidly emerging disease, organ-specific studies related to it have been reported. Apart from respiratory findings, some studies have highlighted inflammatory consequences in the heart, kidney, and/or liver as well. Cardiac involvement in COVID-19 seems to be a result of an inflammatory storm in response to the infection. Moreover, direct viral invasion of cardiomyocytes, as well as a myocardial injury due to oxidative stress, may account for acute cardiac injury in COVID-19. Nevertheless, the mechanism of heart injury in COVID-19 is not clear yet. However, multiple studies that highlight the clinical features, laboratory findings, and prognosis of acute myocardial injury (AMI) in COVID-19-affected individuals have been published. In this review, we have summarized the findings of all those studies as well as the clinical features and management of cardiac injury discussed by some case reports.
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Biotinidase deficiency (BTD) is a rare yet treatable metabolic autosomal recessive (AR) disorder in which the body is unable to recycle the vitamin biotin. Early diagnosis and treatment can be life-saving, but some symptoms of the disease are irreversible, and the condition can even prove to be fatal if not correctly diagnosed and managed. Here we present a case of a six-month-old child who presented with cough, fever, and difficulty in breathing. Respiratory examination revealed deep subcostal and intercostal recessions, bilateral crepitations, and wheezes. On central nervous system (CNS) examination, the baby had a low Glasgow Coma Scale (GCS) score of 10 while the tone was decreased, and bulk was increased in all four limbs. Chest X-ray revealed haziness at the right middle and lower lobes. Antibiotics were started keeping pneumonia, bronchiolitis, and sepsis in mind along with an initial diagnosis of inborn error of metabolism (IEM). As the patient's condition deteriorated, nasal bubble continuous positive airway pressure (CPAP) and nebulization were provided and later put on a ventilator. Arterial blood gases (ABGs) showed severe metabolic acidosis and compensatory respiratory alkalosis with an anion gap of 15. Urine profile for organic acid was performed, and the diagnosis of sepsis with BTD was made. Unfortunately, our patient expired on the fourth day of admission before a biotin injection could be searched and administered. Moreover, our patient was also suspected of a possible Sotos syndrome, which is a rare genetic disorder characterized by excessive growth in the initial years of life. The case highlights the significance of the diagnosis of such metabolic disorders in the natal period of life and their immediate management.
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Background Since the outbreak, healthcare systems across the globe are overcrowded with coronavirus disease (COVID-19) patients. To sustain the response towards the pandemic, many hospitals have adapted to virtual healthcare and telemedicine. Google™ has become the most widely used search engine over the years. Google Trends™ can be used to depict the public interest over a certain topic. The output of the Google Trends™ is displayed as relative search volume (RSV) which is the proportionate search volume regarding a specific topic comparative to the total search volume in a specific time and region. The primary aim of this study was to evaluate the relationship between the daily reported number of new COVID-19 cases and deaths and the corresponding changes in Google Trends™ RSV of telehealth over six months. Methods A retrospective study was conducted from January 21, 2020 to July 21, 2020. About 17 countries that reported the total number of cases greater than 200,000 in the situation report of July 21, 2020 were selected to be a part of this study. The daily reported new cases and deaths globally and of the selected countries were extracted from the World Health Organization (WHO) situation reports. The combination of keywords used for obtaining the RSV data through Google Trends™ was "telehealth", "telemedicine", "mHealth", and "eHealth". These words were used with the "+" feature of Google Trends™ with "1/21/2020 to 7/21/2020" as time range, "all categories" for the category, and "web search" for the type of search. The worldwide RSV as well as the RSVs of the selected countries were obtained from the Google Trends™ website. Spearman's correlation coefficient (ρ) was used to determine the strength of the relationship between new cases or deaths and RSVs related to telehealth. Results A positive fair correlation was established between the global interest in telehealth and the new cases (ρ=0.307, p-value<0.001) and deaths (ρ=0.469, p-value<0.001) reported worldwide. The United States of America (USA), India, and Bangladesh were found to have a positive fair correlation between the public interest regarding telehealth and the emerging new COVID-19 cases and deaths. The United Kingdom (UK) and Italy demonstrated a positive poor correlation between the rising new cases or deaths and RSV. Similar statistics were noted for the daily new cases of Chile. For Turkey, a positive fair correlation between new deaths and RSV while a positive poor correlation between new cases and RSV was observed. No significant correlation was observed for the rest of the selected countries. Conclusion This study highlights the steadily rising public interest in telehealth during the COVID-19 pandemic. Telemedicine can provide the necessary remote consultation and healthcare for patients in the current situation. However, previous studies have shown that the majority of the countries are inadequately equipped for the digitization of the healthcare system. Therefore, it has become necessary to incorporate telemedicine into the healthcare system to combat any possible pandemic in the future.
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Background Hand hygiene is the cardinal step in combating various healthcare-associated infections. These infections are a cause of 37,000 deaths in Europe and 100,000 deaths in the United States annually. Thus, prevention of their spread is of utmost importance today. A study conducted in a tertiary care center in Karachi found that 17% of the medical professionals were aware of the World Health Organization (WHO) guidelines on hand hygiene while only 4.9% followed these hand-washing techniques. Lack of hand hygiene practice and awareness has raised a need to reassess infection control in hospitals. There is currently undisputed proof that adherence to hand cleanliness diminishes the danger of transmission of various infections. Methods A questionnaire-based cross-sectional study was conducted at Dr. Ruth K.M. Pfau Civil Hospital, Karachi in January 2019. Data from 212 participants who met the inclusion criteria were analyzed. A three-part questionnaire was used for the hospital staff who had been present at the hospital for at least six hours and had attended to the patients during the last three continuous working days. Staff members who visited the hospital but did not attend to any patients or those who had been present at the hospital for less than six hours were excluded. Collected data were analyzed using Statistical Package for Social Science (SPSS) version 23.0 (IBM, Armonk, NY). Results A total of 212 individuals (74 doctors, 66 nurses, 52 technicians, and 20 ward assistants) agreed to participate in our study, of which 124 were females. The compliance with hand disinfectant use before and after every patient contact was found to be 12.3%. The use of disinfectant was found to be more among males than females (mean 7.88 times for males vs. 6.20 for females) and the younger individuals were more compliant with hand hygiene practices; 62.73% of participants were aware of the WHO guidelines regarding hand hygiene and 65.56% were aware of hospital-acquired infections. However, nearly half of the participants (45.75%) had never attended a formal lecture on the subject and more than half (62.26%) of the participants were unenlightened about the complications of hospital-acquired infections. Conclusions Hand hygiene is a basic requirement for every medic and paramedic in a hospital setting today. Keeping in mind the drastic consequences of the spread of hospital-associated infections, it is evident that hand hygiene should be stressed upon. The rising incidence of nosocomial infections and their complications can be prevented by raising awareness about hand hygiene practices. There is a need to further investigate the application of and adherence to the basic guidelines on hand hygiene. Our results indicate that this issue should be tackled through a multidimensional approach.
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Background The coronavirus disease (COVID-19) pandemic has put an excessive strain on healthcare systems across the globe, causing a shortage of personal protective equipment (PPE). PPE is a precious commodity for health personnel to protect them against infections. We investigated the availability of PPE among doctors in the United States (US) and Pakistan. Methods A cross-sectional study, including doctors from the US and Pakistan, was carried out from April 8 to May 5, 2020. An online self-administered questionnaire was distributed to doctors working in hospitals in the US and Pakistan after a small pilot study. All analysis was done using Statistical Package for Social Science (SPSS) version 23.0 (IBM Corp., Armonk, NY). Results After informed consent, 574 doctors (60.6% from Pakistan and 39.4% from the US) were included in the analysis. The majority of the participants were females (53.3%), and the mean age of the participants was 35.3 ± 10.3 years. Most doctors (47.7%) were from medicine and allied fields. Among the participants, 87.6% of doctors from the US reported having access to masks/N95 respirators, 79.6% to gloves, 77.9% to face-shields or goggles, and 50.4% to full-suit/gown. Whereas, doctors in Pakistan reported to have poor availability of PPE with only 37.4% having access to masks/N95 respirator, 34.5% to gloves, 13.8% to face-shields or goggles, and 12.9% to full-suit/gown. The reuse of PPE was reported by 80.5% and 60.3% physicians from the US and Pakistan, respectively. More doctors from Pakistan (50.6%) reported that they had been forced to work without PPE compared to doctors in the US (7.1%). Conclusion There is a lack of different forms of PPE in the US and Pakistan. Doctors from both countries reported that they had been forced to work without PPE. Compared to the US, more doctors from Pakistan reported having faced discrimination in receiving PPE.
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Background Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has spread to almost every country on the globe, and each country is reporting the symptomatic presentation of their patients to give better insight into the various clinical presentations of SARS-CoV-2. However, the epidemiological literature from Pakistan is scanty. Methods We retrospectively analyzed data from 412 patients who were residents of East Karachi and tested positive for SARS-CoV-2 between February 26 to April 24, 2020. Patients' demographics, symptoms, travel and contact history, and outcomes were recorded. All statistical analysis was performed using the Statistical Package for the Social Sciences (SPSS) version 22 (IBM SPSS Statistics for Windows, IBM Corp, Armonk, NY). Results Most of the patients were male (64.6%), the majority (43.3%) belonging to the 21- to 40-year age group. Most of the patients (65.5%) were residents of Gulshan Iqbal. A total of 15.8% of the patients were admitted to the hospital, and 3.9% of patients expired. The three most common presenting symptoms were fever (74.8%), cough (60.4%), and flu (35.5%). The majority of patients (89.3%) gave a history of contact with SARS-CoV-2 patients. Conclusion The number of SARS-CoV-2 cases is rapidly increasing in Karachi, Pakistan. There is a need to educate the population about the most common sign and symptoms of the virus so that individuals can identify these symptoms and get themselves tested. The concerned authorities should devise an adequate and effective plan to flatten the infectivity curve.
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Hydatid cysts are caused by a tapeworm Echinococcus granulosus. They usually occur in the liver. When occurring in spleen they present with vague symptoms which make it difficult for the physicians to diagnose. We present a case of a 10-year-old male who presented with fever, abdominal pain, and burning micturition along with vomiting. Abdominal exam revealed no visceromegaly. Abdominal ultrasound (US) and computed tomography (CT) scan showed multiple hypoechoic and hypo-dense areas, respectively. Splenic abscess, abdominal tuberculosis (TB), pyelonephritis and malignancy were ruled out with appropriate investigations. The patient was not responding to triple therapy of antibiotics (ceftriaxone, metronidazole, and cloxacillin). A final diagnosis of hydatid cyst of spleen was made when serum echinococcus immunoglobulin G (IgG) antibodies were found to be positive. The patient was treated with albendazole and was discharged on improvement. It is vital to be vigilant and consider echinococcal hydatid cyst as a differential in the lesions of spleen, especially if the patient has a rural background.
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Apple peel intestinal atresia is a rare congenital malformation. It consists of a proximal jejunum ending in a blind pouch and distal small bowel wrapped around its vascular supply in a spiral fashion. A combination of type IIIb jejunoileal atresia (apple peel atresia) and type IV (multiple intestinal atresias) is a rare entity. The diagnosis and management of such complicated cases is a challenge, especially in resource-limited settings. We report a case of a four-day-old female who presented to the neonatal intensive care unit with complaints of vomiting, yellow discoloration of the skin, and failure to pass meconium since birth. The baby was born preterm (34 weeks) via spontaneous vaginal delivery. The physical examination concluded a jaundiced and dehydrated child with a soft, non-tender abdomen and absent gut sounds. X-ray abdomen showed two air-fluid areas in the left hypochondrium. The upper gastrointestinal gastrografin study revealed that contrast opacified the third part of the duodenum and no contrast was observed beyond it. On exploratory laparotomy, proximal jejunal atresia with four distal atresias in apple peel fashion and a viable 20 cm of small bowel was observed. The apple peel segments were supplied by mesenteric vessels. Unfortunately, our patient expired despite all supportive measures. The case highlights the significance of the prenatal and early postnatal diagnosis of such a complex combination of intestinal atresias for adequate and timely management.
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Thalassemia is a genetic disorder due to deletion or mutation in the gene for alpha or beta chain of hemoglobin. Gaucher's disease (GD) is characterized by a deficiency of a lysosomal enzyme, glucocerebrosidase which occurs due to mutations in the GBA1 gene on chromosome 1. Thalassemia and GD have overlapping clinical manifestations and present with features such as anemia, hepatosplenomegaly, and skeletal involvement. This creates a diagnostic conundrum for physicians. We present a case of an 11-month-old female who presented with fever, increasing paleness, and labored breathing. She had a recent history of uncross-matched transfusion. The child showed signs of anemic failure. Physical exam findings strongly pointed towards hemolytic anemia due to thalassemia major. Genetic analysis confirmed homozygosity in Fr 8-9 mutation confirming beta thalassemia major. Bicytopenia along with visceromegaly indicated malaria or storage diseases. Enzyme analysis revealed low levels of beta-glucocerebrosidase with normal acid sphingomyelinase levels confirming GD. In our case, we report the association of beta thalassemia major with GD which is a rare entity. The report highlights the need for an independent assessment of disorders that have similar presentations to avoid missing an associated disorder.