Congenital thrombotic thrombocytopenic purpura masquerading as vitamin B12 deficiency.

INTRODUCTION: Congenital thrombotic thrombocytopenic purpura (CTTP), also called Upshaw-Schulman syndrome (USS), is a rare autosomal recessive disorder resulting from the deficiency of the ADAMTS13. CTTP is characterized by the formation of platelet-rich thrombi in small vessels of multiple organs, resulting in thrombocytopenia and microangiopathic hemolytic anemia, eventually leading to organ failure. CASE REPORT: We present a case of an 11-month-old male infant with CTTP lacking classic features of the disease. Instead, his clinical picture portrayed vitamin B12 deficiency, leading to misdiagnosis and subsequent treatment delay. CONCLUSION: This case led to the conclusion that congenital TTP should be suspected in case of vitamin B12 deficiency if the child does not respond to the vitamin B12 replacement therapy. We also emphasize that management for CTTP should be started at its earliest in case of increased clinical suspicion to avoid worse outcomes, especially in countries lacking rapid availability of enzyme assay.

Evaluating the safety and efficacy of daprodustat for anemia of chronic kidney disease: a meta-analysis of randomized clinical trials.

PURPOSE: Anemia of chronic kidney disease (CKD) has traditionally been treated with recombinant human erythropoietin (rhEPO). Recently, daprodustat, a hypoxia-inducible factor prolyl-hydroxylase inhibitor, has also been shown to increase hematocrit. It remains unclear whether daprodustat or rhEPO should be the treatment of choice for anemia of CKD. We aimed to assess the efficacy and cardiovascular safety of daprodustat versus rhEPO in CKD patients. METHODS: Online databases were queried in April 2022 for articles comparing the efficacy and safety of daprodustat in DD-CKD and NDD-CKD subgroups. Results from trials were pooled using a random-effects model. RESULTS: Data on 8245 CKD patients from eight clinical trials were included. Our results show that in comparison to rhEPO, daprodustat maintained the same efficacy in increasing hemoglobin levels in both the DD-CKD (MD: 0.10; 95% CI [- 0.13,0.34]; p = 0.50) and NDD-CKD (MD: - 0.01; 95% CI [- 0.38,0.35]; p = 0.95) subgroups. Daprodustat significantly lowered hepcidin levels and significantly increased TIBC in both subgroups. Additionally, daprodustat significantly reduced the incidence of major adverse cardiovascular events (MACE) (RR: 0.89; 95% CI: 0.89-0.98; p = 0.02) and its myocardial infarction (MI) component (RR: 0.74; 95% CI: 0.59-0.92; p = 0.006) in the DD-CKD subgroup. CONCLUSION: Daprodustat has similar efficacy compared to rhEPO for the treatment of anemia of CKD. On treatment, the reduced experience of MACE was reported in DD-CKD patients as compared to rhEPO. Furthermore, effects on iron metabolism varied by parameter, with daprodustat being superior to rhEPO in some cases and inferior in others.

Risk factors for blood transfusion in Cesarean section: A systematic review and meta-analysis.

OBJECTIVE: The current study has been conducted to identify the risk factors associated with blood transfusion in women undergoing cesarean section (C-section). A detailed account of the risk factors associated withblood transfusion will ultimately prevent unnecessary crossmatching in hospitals , leading to the conservation of declining blood supplies and resources without subjugating the quality of care. MATERIAL AND METHODS: We performed a rigorous literature search using electronic databases, including PubMed, Cochrane CENTRAL, and Embase, for studies evaluating the risk factors for blood transfusion in C-section published until March 31, 2021. The Newcastle-Ottawa Quality Assessment Scale was deployed to assess the methodologic quality of the included studies. Mean differences (MD) and odds ratios (OR) with 95% confidence intervals were calculated using Review Manager version 5.3. RESULTS: The search yielded 1563 records, 22 of which were eligible for inclusion, representing 426,094 women (10,959 in the transfused group and 415,135 in the non-transfused group). Participants in the transfused group had lower mean preoperative hematocrit (MD=-3.71 [-4.46, -2.96]; p<0.00001; I2=88%). Placenta previa (OR=9.54 [7.23, 12.59]; p<0.00001; I2=88%), placental abruption (OR=6.77 [5.25, 8.73]; p<0.00001; I2=72%), emergency C-section (OR=1.92 [1.42, 2.60]; p<0.0001; I2=75%), general anesthesia (OR=8.43 [7.90, 9.00]; p<0.00001; I2=72%), multiple gestations (OR=1.60 [1.24, 2.06]; p=0.0003; I2=85%), preterm labor (OR=3.34 [2.75, 4.06]; p<0.00001; I2=85%), prolonged labor (OR=1.68 [1.44, 1.96]; p<0.00001; I2=78%), unbooked cases (OR=2.42 [1.22, 4.80]; p=0.01; I2=80%), hypertensive disorders of pregnancy (OR=1.81 [1.72, 1.90]; p<0.00001; I2=71%), and fibroids (OR=2.32 [1.55, 3.47]; p<0.0001; I2=72%) were significantly higher in the transfused group compared to the non-transfused group. Chronic hypertension (OR=0.67 [0.29, 1.55]; p=0.36; I2=90%), maternal age (MD=0.09 [-0.27, 0.45]; p=0.62; I2=50%), maternal body mass index (MD=-0.14 [-0.81, 0.53]; p=0.67, I2=86%), diabetes (OR=0.93 [0.75, 1.15]; p=0.51; I2=52%), and malpresentation (OR=0.65 [0.38, 1.11]; p=0.13; I2=64%) were not significantly associated with an increased risk of blood transfusion in C-section in the two groups. CONCLUSION: Placenta previa, placental abruption, emergency C-section, booking status, multiple gestations, and preoperative hematocrit were the risk factors most significantly associated with blood transfusion, while a prior C-section did not increase the risk of transfusion.

The COVID-19 Sequelae: A Cross-Sectional Evaluation of Post-recovery Symptoms and the Need for Rehabilitation of COVID-19 Survivors.

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.

Retrorectal Epidermal Inclusion Cyst: An Incidental Finding During Cesarean Section.

An epidermal inclusion cyst is a benign lesion, frequently observed throughout the body. However, its presence in the retrorectal region is a rare occurrence. With a higher incidence in women and non-specific symptoms, these cysts are mostly an incidental finding. Here, we report a case of a 33-year-old female presenting with complaints of abdominal pain and sensation of incomplete and painful defecation. The patient's history revealed that a large pelvic cyst was found incidentally during her first cesarean section (CS) owing to an arrest in labor. A presumptive diagnosis of rectal duplication cyst was made based on digital rectal exam (DRE), computed tomography (CT), and magnetic resonance imaging (MRI) findings. For cyst removal, the patient underwent a midline laparotomy. A postoperative biopsy led to the confirmed diagnosis of the retrorectal epidermal inclusion cyst. On follow-up, our patient showed a smooth recovery without any complications. We conclude that when dealing with a pregnant woman with a pelvic mass, developmental cysts should always be kept in mind. Timely diagnosis and management of a retrorectal mass is essential for effective treatment and to prevent subsequent complications.

Neurological Consequences of 2019-nCoV Infection: A Comprehensive Literature Review.

First identified in November 2019 in Hubei Province, the coronavirus disease of 2019 (COVID-19) caused by SARS-CoV-2 soon spread worldwide to become a global health pandemic. The COVID-19 preferentially damages the respiratory system that produces symptoms such as fever, cough, and shortness of breath. However, the infection often tends to disseminate to involve various organ systems. Recent evidence indicates that SARS-CoV-2 can cause significant neurological damage and resultant neurological symptoms and complications. Here, we provide a comprehensive and thorough review of original articles, case reports, and case series to delineate the possible mechanisms of nervous system invasion and damage by SARS-CoV-2 and subsequent consequences. We divided the neurological manifestations into three categories: (1) Central Nervous System involvement, (2) Peripheral Nervous System manifestations, and (3) Skeletal Muscle Injury. Headache and dizziness were found to be the most prevalent symptoms followed by impaired consciousness. Among the symptoms indicating peripheral nervous system invasion, anosmia and dysgeusia were commonly reported. Skeletal muscle injury predominantly presents as myalgia. In addition, encephalitis, myelitis, cerebrovascular disease, Guillain-Barre syndrome, and Miller Fischer syndrome were among the commonly noted complications. We also emphasized the association of pre-existing comorbidities with neurological manifestations. The aim of this review is to provide a deeper understanding of the potential neurological implications to help neurologists have a high index of clinical suspicion allowing them to manage the patient appropriately.

Chylomicron Retention Disease in A Male Infant: A Rare Case from Pakistan.

Chylomicron retention disease (CMRD), also known as Anderson's disease, is an autosomal recessive condition with a genetic mutation in the secretion associated Ras related GTPase 1B (SAR1B) gene, a protein coding gene. CMRD classically manifests as steatorrhea, vomiting, failure to thrive or abdominal bloating shortly after birth or in childhood. Here, we report a rare case of a 50-day-old male infant who was, at first, overseen as a case of acute gastroenteritis with sepsis owing to the non-specific symptoms i.e. multiple episodes of loose stools with a low-grade fever and failure to thrive, and was managed accordingly. However, the symptoms did not resolve; moreover, the clinical condition deteriorated. Later, lipid profile, clinical presentation and pathological features led to a presumptive diagnosis of CMRD. Our patient showed significant improvement when treated with a trial of medium- and short-chain fatty acids. We conclude that, in resource-restricted countries, a therapeutic trial with the dietary changes is essential to not only prevent the devastating complication but also support the diagnosis.

Electrolyte Imbalance in Children With Severe Acute Malnutrition at a Tertiary Care Hospital in Pakistan: A Cross-Sectional Study.

Background Malnutrition is a significant public health concern and a leading contributor to the global burden of children's diseases, affecting 50 to 150 million children under the age of five years worldwide. Globally, undernutrition accounts for approximately 33% of the deaths among under-fives. South Asia alone contributes to 50% and 38.8% of the world's population of wasted and stunted children, respectively. In Pakistan, malnutrition is the leading cause of childhood mortality, accounting for nearly 35% of all deaths under five years of age. Severe acute malnutrition (SAM), the most severe form of malnutrition, is often associated with electrolyte imbalances. This study aimed to determine the frequency of electrolyte imbalance in children with SAM admitted at a tertiary care hospital. Methods This cross-sectional study includes 184 patients with SAM aged between 6 and 60 months, who were admitted at the inpatient Department of Pediatrics, Dr. Ruth K. M. Pfau, Civil Hospital, Karachi, Pakistan, from January 17, 2017 to July 16, 2017. Weight and length/height were measured, and weight-for-height was calculated. Children were labeled to have SAM when weight-for-height was below -3 standard deviation (SD). Blood samples for serum electrolytes were drawn and sent to the lab. Descriptive statistics were calculated, and stratification was performed using the chi-square test. A p-value of ≤0.05 was considered statistically significant. Results  The mean age of participants was 22.63 ± 12.71 months. Of the 184 patients with SAM, 172 (93.5%) patients had electrolyte imbalance. Hypokalemia was present in 79.9%, whereas hypocalcemia, hyponatremia, and hypomagnesemia were present in 71.7%, 48.9%, and 13.6%, respectively. Post-stratification results showed a significant association of electrolyte imbalance with gender (p = 0.005) and educational status of parents (p = 0.001). Conclusions Electrolyte disturbances are common in SAM. Serum electrolytes of every malnourished child admitted should be assessed and corrected to avoid fatal outcomes. We suggest that more research with better study designs should be conducted to develop policies and strategies for successfully combating malnutrition in Pakistan. In the meantime, we recommend adopting national guidelines for the management of acute malnutrition to reduce morbidity and mortality.

Jejunal Adenocarcinoma as a Rare Cause of Small Bowel Obstruction: A Case Report.

Jejunal adenocarcinoma, a small bowel adenocarcinoma (SBA), is a rare cause of small bowel obstruction. Jejunal adenocarcinoma classically presents with vague clinical symptoms, i.e., abdominal pain, discomfort, and weight loss, making timely diagnosis challenging. Owing to its diagnosis at a late stage, the prognosis of jejunal adenocarcinoma is poor. Curative resection of the tumor at the early stages remains a treatment of choice. Here, we report a case of a 55-year-old man presenting with symptoms of nausea, vomiting, abdominal pain, abdominal distension, and relative constipation. Computed tomography (CT) scan showed dilated small bowel loops. Exploratory laparotomy was performed, which revealed a jejunal stricture and dilated small bowel loops proximal to it. Suspicious stricture, along with the diseased portion of the intestine, was removed through en-bloc resection. Histopathology and metastatic workup revealed moderately differentiated adenocarcinoma with stage IIB (T4aN0M0). We conclude that, although rare, jejunal adenocarcinoma should be kept in mind when dealing with a patient presenting with symptoms indicating small bowel obstruction. Our purpose is to emphasize laparotomy as both a diagnostic and surgical modality for SBAs in early stages, especially in setups of low economic countries where advanced imaging techniques are relatively inaccessible.

COVID-19-Induced Hepatic Injury: A Systematic Review and Meta-Analysis.

Background The current pandemic of the novel coronavirus disease (COVID-19) is a global health challenge. Pulmonary dysfunction is the main outcome of COVID-19 infection. In critically ill patients, however, liver complications have also been reported. Thus, we conducted a systematic review and meta-analysis to draw generalized conclusions regarding impaired liver biochemistry and its potential relationship with COVID-19 disease severity. Materials and Methods We searched the PubMed, Scopus, and Web of Science databases for all the related literature published up to June 20, 2020. The data were analyzed using R statistical software. A random-effects model was employed for pooling the data. The risk of bias and quality of included studies was assessed using the modified Newcastle-Ottawa Scale (NOS) for cohort studies. Results The present meta-analysis comprises 10 retrospective and two prospective studies (6,976 COVID-19 patients). The serum analysis revealed significantly higher levels of alanine aminotransferases and aspartate aminotransferases and significantly lower albumin levels. Moreover, insignificant increases in serum levels of total bilirubin were observed. Upon subgroup analysis of six studies (severe cases, n=131; non-severe cases, n=334) stratified on the basis of disease severity, we found that these abnormalities were relatively higher in severe cases of COVID-19 (albumin [weighted mean difference (WMD), 34.03 g/L; 95% CI, 27.42 to 40.63; p<0.0001; I2=96.83%); alanine transaminase (ALT) [WMD, 31.66 U/L; 95% CI, 25.07 to 38.25; p<0.0001; I2=55.64%]; aspartate aminotransferase (AST) [WMD, 41.79 U/L; 95% CI, 32.85 to 50.72; p<0.0001; I2=51.43%]; total bilirubin [WMD, 9.97 µmol/L; 95% CI, 8.46 to 11.48; p<0.0001; I2=98%]) than in non-severe cases. Conclusion Deranged liver enzymes serve as prognostic factors to assess the severity of COVID-19. Liver markers should, therefore, be observed and monitored continuously.