Resistant anemia in a kidney transplant recipient: Pure red cell aplasia due to parvovirus B19 infection.

Anemia in kidney transplant recipients can stem from a diverse array of etiologies, including dietary deficiencies, inflammatory processes, allograft dysfunction, as well as viral and bacterial infections. We present a case of refractory anemia in a 49-year-old male patient occurring within the initial month following a kidney transplant, which persisted despite numerous transfusions, posing a formidable challenge. The patient was maintained on the standard immunosuppressant regimen-Tacrolimus, Mycophenolate, and Prednisolone. Diagnostic evaluations eliminated well-established causes such as dietary deficiencies, gastrointestinal losses, and prevalent infections. Subsequently, after viral PCR testing, a diagnosis of Pure Red Cell Aplasia (PRCA) due to infection with parvovirus B19 was made. Although the patient had a reduction in the immunosuppression drugs and received a course of Intravenous Immunoglobulins (IVIG) on two separate occasions spanning two months, the anemia relapsed. Subsequently, after an additional dose of IVIG with further modification and reduction of the immunosuppressant regimen, including stopping the mycophenolate and switching tacrolimus with cyclosporine, the patient ultimately achieved successful resolution of his symptoms and a significant decrease in viral load. Our case highlights the significance of unconventional etiologies when confronted with anemia in the setting of kidney transplantation. Furthermore, it also provides further insights into therapeutic avenues for addressing PRCA in kidney transplant recipients.

A systematic review of literature on Insulin-like growth factor-2-mediated hypoglycaemia in non-islet cell tumours.

INTRODUCTION: Insulin-like growth factor-2 (IGF-2)-mediated hypoglycemia is a rare yet clinically significant entity with considerable morbidity and mortality. Existing literature is limited and fails to offer a comprehensive understanding of its clinical trajectory, management and prognostication. METHODS: Systematic review of English-language articles reporting primary patient data on IMH was searched using electronic databases (PubMed, Scopus and Embase) from any date up to 21 December 2022. Data were analysed in STATA-16. RESULTS: The systematic review contains 172 studies, including 1 Randomised controlled trial, 1 prospective observational study, 5 retrospective observational studies, 150 case reports, 11 case series and 4 conference abstracts. A total of 233 patients were analysed, averaging 60.6 ± 17.1 years in age, with comparable proportions of males and females. The commonest tumours associated with Insulin-like Growth Factor-2-mediated hypoglycaemia were fibrous tumours (N = 124, 53.2%), followed by non-fibrous tumours originating from the liver (N = 21, 9%), hemangiopericytomas (N = 20, 8.5%) and mesotheliomas (N = 11, 4.7%). Hypoglycaemia was the presenting feature of NICT in 42% of cases. Predominant clinical features included loss of consciousness (26.7%) and confusion (21%). The mean IGF-2 and IGF-1 levels were 882.3 ± 630.6 ng/dL and 41.8 ± 47.8, respectively, with no significant correlation between these levels and patient outcomes. Surgical removal was the most employed treatment modality (47.2%), followed by medication therapy. The recovery rate was 77%, with chronic liver disease (CLD) significantly associated with a poor outcome (OR: 7.23, P: 0.03). Tumours originating from fibrous tissues were significantly associated with recovery (p < .001). In the logistic regression model, CLD remained a significant predictor of poor outcomes. CONCLUSION: This systematic review highlights that most non-islet-cell tumour-hypoglycaemia (NICTH) is due to fibrous tumours. NICTs demonstrate a variable prognosis, which is fair if originating from fibrous tissue. Management such as octreotide, corticosteroids, diazoxide, embolization, radiotherapy and surgical resection have disparate success rates.

Saddle pulmonary embolism in the setting of COVID-19 infection: A systematic review of case reports and case series.

Saddle pulmonary embolism (SPE) is a rare type of pulmonary embolism that can lead to hemodynamic compromise causing sudden deaths. Due to a dearth of large prospective studies in this area, little is known regarding the epidemiology, and prognosis and factors affecting the latter for COVID-19-associated SPE. We aimed to describe COVID-19-associated SPE and quantify and compare mortality and factors affecting mortality among the cases. We included a total of 25 publications with a total of 35 cases. The average age was 45 ± 16.3 years with 11 females and 24 males. Dyspnoea (82.5%), orthopnoea (43.5%), and cough (43.5%) were the most common symptoms, and obstructive shock was present in five (21.7%) patients. The average reported oxygen (O2) saturation was 85.8% ± 11.9 mm Hg. Hypertension (26.1%), diabetes (21.7%), and deep vein thrombosis (21.7%) were the most commonly reported comorbidities. Right heart strain was recognized in seven (30%) patients on electroencephalogram (S1QIIITIII) and 12 (52.2%) patients on echocardiogram. Anticoagulation, thrombolysis, and percutaneous intervention were tried in 21 (91.3%), 13 (56.5%), and 6 (26.1%) cases, respectively. Despite the aggressive management, 2 of 25 (8.7%) patients died in our smaller case report cohort. We conclude that despite aggressive management modalities, the mortality of SPE remains high in COVID-19.

Prevalence, Outcome, and Optimal Management of Free-Floating Right Heart Thrombi in the Context of Pulmonary Embolism, a Systematic Review and Meta-Analysis.

Free-floating right-heart thrombus (FFRHT) in the context of a pulmonary embolism (PE) is a rare but serious encounter with no guidelines addressing its management. We performed a systematic review and meta-analysis addressing prevalence, clinical behavior, and outcomes of FFRHT associated with PE. Among the included 397 patients with FFRHT and PE, dyspnea was the main presenting symptom (73.3%). Obstructive shock was documented in 48.9% of cases. Treatment with thrombolytic therapy, surgical thrombectomy, and percutaneous thrombectomy was documented in 43.8%, 32.7%, and 6.5% of patients, respectively. The overall mortality rate was 20.4%. Syncope (p: 0.027), chest pain (p: 0.006), and obstructive shock (p: 0.037) were significantly associated with mortality. Use of thrombolytic therapy was significantly associated with survival (p: 0.008). A multivariate logistic regression model to determine mortality predictors revealed that syncope (OR: 1.97, 95% CI: 1.06-3.65, p: 0.03), and obstructive shock (OR: 2.23, 95% CI: 1.20-4.14, p: 0.01) were associated with increased death odds. Treatment with thrombolytic therapy (OR: 0.22, 95% CI: 0.086-0.57, p: 0.002) or surgical thrombectomy (OR: 0.35, 95% CI: 0.137-0.9, p: 0.03) were associated with reduced death odds. Meta-analysis of observational studies revealed a pooled prevalence of FFRHT among all PE cases of 8.1%, and overall mortality of 23%. Although uncommon, the presence of FFRHT in the context of PE is associated with high obstructive shock and mortality rates. Favorable survival odds are observed with thrombolytic therapy and surgical thrombectomy. Data are derived from case reports and observational studies. Clinical trials elucidating these findings are needed.

Migraine in physicians and final year medical students: A cross-sectional insight into prevalence, self-awareness, and knowledge from Pakistan.

BACKGROUND: Despite its high prevalence, migraine remains underdiagnosed worldwide. A significant reason is the knowledge gap in physicians regarding diagnostic criteria, clinical features, and other clinical aspects of migraine. AIM: To measure the knowledge deficit in physicians and medical students and to assess the prevalence of migraine in the same population. METHODS: An online questionnaire was developed and distributed among physicians and final year medical students on duty in various medical and surgical specialties of Allied and DHQ Hospitals, Faisalabad, between October 2018 and October 2019. Inclusion criteria were public practicing physicians who experience headaches, while those who never experienced headaches were excluded. Different questions assessed respondents on their knowledge of triggers, diagnosis, management, and prophylaxis of the migraine headache. They were asked to diagnose themselves using embedded ICHD-3 diagnostic criteria for different types of migraine. Graphs, tables, and figures were made using Microsoft Office 2016 and Microsoft Visio, and data analysis was done in R Studio 1.4. RESULTS: We had 213 respondents and 175 fulfilled inclusion criteria, with 99 (52%), 58 (30%) and 12 (6.3%) belonging to specialties of medicine, surgery, and others, respectively. Both genders were symmetrically represented (88 male and 87 female). Fifty-two (24.4%) of our 213 respondents were diagnosed with migraine, with 26 (50%) being aware of it. Females had higher prevalence among study participants (n = 28, 32.2%) compared to males (n = 20, 22.7%, P = 0.19). A majority (62%) of subjects never consulted any doctor for their headache. Similarly, a majority (62%) either never heard or did not remember the diagnostic criteria of migraine. Around 38% falsely believed that having any type of aura is essential for diagnosing migraine. The consultation rate was 37% (n = 65), and migraineurs were significantly more likely to have consulted a doctor, and a neurologist in particular (P < 0.001). Consulters and migraineurs fared better in the knowledge of diagnostic aspects of the disease than their counterparts. There was no significant difference in other knowledge aspects between consulters versus non-consulters and migraineurs versus non-migraineurs. CONCLUSION: Critical knowledge gaps exist between physicians and medical students, potentially contributing to misdiagnosis and mismanagement of migraine.

Clinical characteristics and outcomes of patients with Herpes Zoster Infection in the context of SARS-CoV-2 infection. A case report and a systematic review.

INTRODUCTION: Severe acute respiratory syndrome-coronavirus 2 (SARSCoV2) pandemic has been an unceasing plight with a wide range of clinical presentations. The direct effects of the virus, increased use of medications, and lifestyle changes have contributed to the vulnerability to co-infections. Fungal and bacterial co-infections led to increased morbidity and mortality during the pandemic. Similarly, the surge of skin signs in conjunction with herpes zoster (HZ) manifestations has been reported. In this study, we pooled the data on the clinical characteristics of SARS-CoV-2 patients co-infected with HZ. METHODOLOGY: Electronic databases including PubMed, Scopus, and Google Scholar were extensively searched to identify the relevant studies on HZ infection among the SARS-CoV-2 patients. RESULTS: A total of 79 patients (from case reports, series, and retrospective studies) were included in the analysis. Fever was the most common constitutional symptom recorded, followed by cough and dyspnea. A systemic rash was reported in 78.5% of cases with mild symptoms of HZ and SARS-CoV-2 in 87% and 76%, respectively. Only 19% of the cases presented during the prodrome period of SARS-CoV-2. HZV polymerase chain reaction (PCR) was positive in 8.9% of the cases, and the remaining were diagnosed clinically. SARS-CoV-2 PCR was reported positive in 65 cases (82.3%). Leukopenia was observed in 7 cases (8.9%) and lymphopenia in 25 (31.6%). All patients recovered through conservative treatment. CONCLUSION: SARS-CoV-2 escalated the incidence of HZ reactivation. Most of the patients were seen with older individuals either simultaneously or a few days after the SARS-CoV-2 infection, but a few cases were reported during the asymptomatic prodrome period of SARS-CoV-2.

Vanishing bile duct syndrome after drug-induced liver injury.

BACKGROUND: Vanishing bile duct syndrome (VBDS) is a serious cholestatic liver disease that can be a complication of drug-induced liver injury (DILI). While journals have published case reports of this condition, large studies on a cohort of these patients are lacking. We aimed to compile published case reports and case series of patients with VBDS and DILI to describe the clinical and laboratory characteristics of the disease and identify factors associated with good and poor outcomes. METHODS: We included case reports and case series of VBDS secondary only to DILI. We extracted demographic, clinical, laboratory, treatment, and exposure data from each case report and categorized cases by outcome, good versus poor. We defined poor outcomes as cases with severe long-term complications or death. We analyzed risk factors for poor outcomes using logistic regression. RESULTS: We identified a total of 59 eligible cases. Of those, 39 (59%) were female, the median age was 36 (IQR:12-58), and 18 (31%) were pediatric cases (≤18 years). The most common offending drug class was antibiotics, especially beta-lactams. Patients with increased total bilirubin (OR=4.69; 95% CI=1.55-15.49; p = 0.008), increased direct bilirubin (OR=6.50; 95% CI=1.34-48.91; p = 0.034), lower liver synthetic activity (OR=0.11; 95% CI=0.02-0.55; p = 0.013), and older age (OR=3.31; 95% CI=1.15-10.04; p = 0.029) were more likely to develop poor outcomes. CONCLUSIONS: In patients with VBDS and DILI, antibiotics were the most common offending agents. Higher total and direct bilirubin levels were associated with poor outcomes.

Optimal management, prevalence, and clinical behavior of saddle pulmonary embolism: A systematic review and meta-analysis.

INTRODUCTION: The central location, size, and instability of saddle pulmonary embolism (SPE) have raised significant concerns regarding its clinical, hemodynamic effects as well as optimal management. Pulmonary embolism (PE) guidelines barely address such concerns. We aimed to pool the available data on the clinical behavior and outcomes of SPE and study the effects of various treatment modalities on mortality outcomes. METHODS: PubMed, Scopus, and Google Scholar were searched for articles (any date up to February 28, 2022) reporting patients with SPE. Data on SPE demographics, clinical characteristics, management, and outcomes were extracted and analyzed. RESULTS: Results from all SPE cases: A total of 5251 patients from 194 studies were included in the review. Dyspnea (57 %) was the most prevalent symptom. Massive and submassive PE comprised 9.7 % and 45.8% of cases, respectively. Thrombolytic therapy (TT) was administered in 18.1 %, and thrombectomy was performed in 16 % of cases. SPE-related mortality was observed in 4.6 %, late decompensation in 9.5 %, and PE recurrence in 4.5 % of cases. Female sex (61.5 % vs. 41.3 %, p = 0.019), hypoxemia (90 % vs. 59.2 %, p < 0.001), massive PE features (89.7 % vs. 30.1 %, p < 0.001), associated chronic kidney disease (CKD) (10.3 % vs. 1.4 %, p = 0.002), and the need for mechanical ventilation (28.2 % vs. 13.1 %, p = 0.02) were significantly associated with increased mortality. The use of TT was significantly associated with increased survival (27.1 % vs. 12.5 %, p < 0.001). In a multivariate logistic regression model, massive PE features significantly increased the odds of death (OR: 29.3, CI: 4.86-181.81, p < 0.001), whereas, treatment with anticoagulation (AC) alone (OR: 0.1, CI: 0.027-0.356, p < 0.001), TT (OR: 0.065, CI: 0.019-0.26, p < 0.001), surgical thrombectomy (ST) (OR: 0.047, CI: (0.010-0.23), p < 0.001), or percutaneous thrombectomy (PT) (OR: 0.12, CI: 0.020-0.84, p = 0.032) significantly decreased odds of death. Results from a meta-analysis of observational studies: Meta-analysis of the included 17 observational studies revealed an overall 10 % (95 % CI: 4.56-16.89) SPE prevalence among all PE cases. The overall SPE-related mortality rate was 8 % (95 % CI: 5.26-10.96). Massive PE was observed in 13.3 % (95 % CI: 5.56-23.70), PE recurrence in 5.1 % (95 % CI: 2.22-9.05), and late decompensation in 11 % (95 % CI: 3.43-22.34) of patients. CONCLUSIONS: SPE comprises 10 % of all PE cases. Despite its ominous radiologic appearance, the clinical, hemodynamic, and mortality outcomes of SPE seem comparable to that of other PE types in general. The presence of massive PE features is the main predictor of mortality in SPE patients. AC, TT, ST, and PT are all associated with decreased odds of death from SPE.

The clinical characteristics and outcomes of patients with pulmonary hypertension in association with hyperthyroid state: A systematic review.

BACKGROUND: Pulmonary hypertension (PHTN) may occur in thyroid disorders, especially in hypothyroidism. However, there is increasing evidence of PHTN in hyperthyroidism (HTH). The etiology, clinical course, management, and factors associated with outcomes of PHTN in the setting of HTH are unascertained. This systematic review consolidates available evidence on patients with HTH who developed PHTN. METHODS: We conducted a systematic review on English articles from PubMed, Scopus, and Google Scholar reporting PHTN in patients with hyperthyroidism. Data were analyzed and reported in Microsoft Excel 2020, SPSS version 26, and Jamovi version 1.2. RESULTS: We identified 589 patients with PHTN in the setting of HTH. Etiologies included Grave disease 66.7%), toxic multinodular goiter (TMNG) (16.8%), drug-induced HTH (0.3%), thyroiditis(0.8%), and toxic adenoma(0.1%). Most patients did not receive any specific management for PHTN and were managed by antithyroid treatment (97.4%). Outcomes of PHTN were reported in 181 patients, with a 94% recovery rate. Pulmonary artery pressures (PAP) before and after HTH management ranged from 22.5 to 75 mm Hg and from 24 to 50 mm Hg, respectively. Outcome analysis performed on data from case reports and series with individually identifiable data revealed a 67.6% female preponderance. An estimated 73.5% of the patients had PHTN at the initial presentation of HTH, which was associated with a better resolution rate of PHTN(OR: 12, P-value: 0.048). TRAB was positive in 47% patients with no clinical difference in outcomes. antiTG AB was reported positive in 29.4%, all of whom had an improvement, compared to an 83.3% improvement rate in those with negative antiTG AB. Various etiologies and treatments did not have any significant differences in the outcome of PHTN. CONCLUSIONS: PHTN can be present at the initial diagnosis of HTH, which is associated with better outcomes of PHTN. There is a clear female preponderance in the development of PHTN. However, resolution rates seem to be better in males. Although TRAB is associated with the development of PHTN, it does not seem to affect the outcomes. PHTN in patients with HTH does not need any specific management, with >90% resolution with antithyroid therapy. Whether any specific antithyroid therapy has a better outcome in PHTN needs to be explored prospectively.

Extramedullary haematopoiesis in patients with transfusion dependent ß-thalassaemia (TDT): a systematic review.

INTRODUCTION: Around 5% of the world's population is expected to have some degree and type of thalassaemia. Beta thalassaemia (BT) occurs due to a deficient production of the beta-globin chain of haemoglobin. Extramedullary haematopoiesis (EMH) is one of the complications of BT, mainly observed in minor/intermedia subtypes. EMH is the production of blood cells outside the marrow as a compensatory response to longstanding hypoxia. Due to chronic transfusions, it is not expected in patients with beta-thalassaemia major (BTM). However, there are increasingly reported cases of EMH in BTM. The incidence of EMH in BTM is thought to be <1%. We aim to pool the available data and provide cumulative evidence on the occurrence of EMH in BTM patients. METHODS: This is a systematic review of case reports, series, and retrospective studies that presented data on the occurrence of EMH in BTM patients. Data were recorded and analyzed in Microsoft Excel 2016 and SPSS 26. The protocol has been registered in PROSPERO: CRD42021242943. RESULTS: Data from 253 cases of EMH in BTM patients were extracted with a mean age of 35.3 years. Mean haemoglobin at presentation with EMH was 8.2 mg/dL. Lower limb weakness was the most common presenting feature (N = 23) (paraspinal EMH). Magnetic resonance imaging (MRI) was the most widely used diagnostic modality (226). Overall, blood transfusion was the commonest reported treatment (30), followed by radiotherapy (20), surgery (15), hydroxyurea (12), steroids (6), and exchange transfusion (2). An outcome was reported in 20% of patients, all recovered, except one who died as a result of nosocomial infection. CONCLUSION: EMH is rare in BTM and can occur in any organ system with varied clinical features. MRI can effectively diagnose EMH, and conservative management has similar results compared to invasive treatments. Larger studies, focussing on outcomes may enhance guidelines on preventive and therapeutic strategies for managing EMH in BTM.KEY MESSAGESExtramedullary haematopoiesis is a rare complication in beta thalassaemia. Although it is more common in non-transfusion dependent thalassaemia, increasingly reported cases suggest a higher prevalence of EMH in TDT than what is known before.There are no clear guidelines on the management of EMH in TDT, with reported patients showing similar outcomes with conservative invasive treatment modalities.More extensive and preferably prospectively designed studies are required focussing on the management of EMH and its outcomes in patients with TDT to formulate evidence-based guidelines.

Protocol for extramedullary hematopoiesis in patients with transfusion-dependent ß-thalassemia (TDT): A systematic review.

BACKGROUND AND AIMS: Thalassemia is one of the most common hemoglobinopathies, with around 5% of the world's population expected to have some degree and type of thalassemia. Beta thalassemia (BT) occurs due to a deficient production of the beta-globin chain of hemoglobin. Extramedullary hematopoiesis (EMH) is one of the complications of BT, mainly observed in minor/intermedia subtypes. EMH is the production of blood cells outside the marrow as a compensatory response to longstanding hypoxia. Due to chronic transfusions, it is not expected in patients with beta-thalassemia major (BTM). However, there are increasingly reported cases of EMH in BTM. The incidence of EMH in BTM is thought to be <1%. However, it seems that the true incidence is much higher than expected. This review aims to pool the available data and provide cumulative evidence on the reports of EMH in BTM patients. METHODS: We aim to conduct a systematic review via searching multiple electronic databases (PubMed, Scopus, Google Scholar) to identify eligible articles from any date up to December 2020. Eligible studies should report extramedullary hematopoiesis in BTM. Case reports, case series, observational studies with cross-sectional or prospective research design, case-control studies, and experimental studies will be included if found relevant. Two reviewers (FA and ES) will individually analyze the study quality using the statistical methodology and categories guided by the Cochrane Collaboration Handbook, PRISMA guidelines, and Joanna Briggs Institute checklist for case reports and series. RESULTS: This study will analyze and incorporate the available evidence on EMH in BTM concerning patient demographics, sites of EMH, management, and clinical outcomes of EMH. CONCLUSION: By summarizing and statistically analyzing the data about EMH in BTM, this study will generate extensive knowledge on the topic for a better understanding of atypical presentations in BTM, a common hemoglobinopathy.

Manifestations of HbSE sickle cell disease: a systematic review.

BACKGROUND: Sickle cell disease (SCD) is commonly encountered in Africa and Middle Eastern countries. The causative mutation in the gene encoding the hemoglobin subunit ß (HBB) leads to various genotypic variants of the disease. This results in varied phenotypes, with a spectrum of complications, from benign to fatal. Hemoglobin SS (HBSS) genotype is associated with most of these complications; hence, it is a severe form of SCD. On the other hand, rare genotypes such as hemoglobin SE (HBSE) are considered benign. There is limited literature about the clinical manifestations and characteristics of patients with HBSE. We pooled all available data describing the phenotypic manifestations of HBSE heterozygote worldwide to perform a systematic review. METHODS: We performed a systematic review according to PRISMA guidelines using PubMed, SCOPUS, and Google Scholar databases. Two independent reviewers (FA and IK) evaluated studies for eligibility and extracted data. We synthesized data on demographics, manifestations, and management of HBSE disease. PROSPERO Registration Number: CRD42021229877. RESULTS: We found 68 HBSE patients reported in the literature. 24 cases were extracted from case reports whereas 44 cases from case series and retrospective studies. Turkey reported the highest number of patients (n = 22). 32 (47%) of the patients were males. The mean age was 20.9 ± 18.26 years. The mean HBS and HBE percentages were 61.1% ± 7.25% and 32.3% ± 5.06%, respectively, whereas the mean hemoglobin was 11.64 ± 1.73 g/dl. Reported manifestations of HBSE disease included acute vaso-occlusive pain crisis (n = 22, 32.3%), splenomegaly (n = 11, 16.1%), hemolytic anemia (n = 10, 14.7%), infections (n = 8. 11.7%), bone infarction (n = 4, 5.8%), gallstones (n = 3, 4.4%), venous thromboembolism (VTE) (n = 2, 2.9%) and stroke (n = 2, 2.9%), and hematuria (n = 2, 2.9%). Death due to HBSE complications was reported in three patients. CONCLUSION: HBSE is a rare genotypic variant of SCD. It has been considered a benign form; however, there are multiple reports of severe complications. Severe complications observed in HBSE disease include vaso-occlusive crisis, acute chest syndrome, stroke, bone marrow embolism, and death.

Reversible hypoxic-ischemic encephalopathy post prolonged out-of-hospital cardiac arrest: A case series.

This article highlights the possibility of positive outcomes associated with prolonged CPR and anoxic brain injury contesting the idea that such patients will invariably end up in a persistent vegetative state.

Optic neuropathy as a presenting feature of vitamin B-12 deficiency: A systematic review of literature and a case report.

INTRODUCTION: Vitamin B12 (VitB12) deficiency rarely manifests with visual symptoms. Optic nerve damage in VitB12 deficiency is thought to be via degeneration. However, optic neuritis, though infrequent, has been reported secondary to VitB12 deficiency. MATERIAL AND METHODS: We conducted a systematic review of all the reported cases of VitB12 deficiency with optic nerve involvement in Pubmed, Cochrane, and Google Scholar any date up to September 6, 2020. We have discussed the findings and compiled the available information on ophthalmological manifestations of VitB12 deficiency. We aim to provide a unified knowledge about the evidence related to types of optic neuropathies reported to date secondary to VitB12 deficiency. We also present a case of bilateral optic neuritis secondary to VitB12 deficiency. PRESENTATION OF CASE: We present a 29-year-old previously healthy male with progressive, painful, bilateral, but asymmetric visual deterioration for forty-five days. A detailed history, examination, and laboratory workup were carried out. He was diagnosed as having optic neuritis secondary to VitB12 deficiency. He showed partial improvement with the replacement of VitB12. CONCLUSION: We suggest promptly identifying and replacing VitB12 in patients with optic neuritis with proven VitB12 deficiency to prevent permanent damage to the optic nerve. Patients with VitB12 deficiency should have a baseline fundoscopic exam to rule out subclinical optic nerve damage. Moreover, patients who present with visual disturbances should be screened for VitB12 deficiency, especially the vegan population.

A retrospective study on the association of gastrointestinal symptoms in children with low lactase activity and low activity of other disaccharidases.

BACKGROUND: Disaccharides such as lactose and sucrose are sugars commonly found in human diet. They are broken down by mucosal disaccharidases in the duodenum. Previous small studies found no associations between gastrointestinal (GI) symptoms and combined low disaccharidase activity. We aim to explore the associations of low activity of disaccharidase and combinations of low activity of different disaccharidases with general GI symptom presentations in a large cohort of pediatric patients. METHODS: We examined a cohort (0-21 yrs.) who have undergone esophagogastroduodenoscopy and received disaccharidase activity assay from duodenal biopsy in the time period 2010 to 2012. Disaccharidase assays tested for activity of lactase, sucrase, maltase, and palatinase. GI symptoms were grouped into four categories, abdominal pain, diarrhea, weight loss, and gastroesophageal reflux. RESULTS: Of the 347 subjects, we found an association between low lactase activity and abdominal pain (OR = 1.78; 95% CI = 1.07-2.97; p < 0.05). Subjects with a lactase/sucrase ratio < 0.2 were found to be associated with abdominal pain (OR = 2.25; 95% CI = 1.25-4.04; p < 0.05), Subjects with low pandisaccharidase may be correlated with abdominal pain and have a unique frequency of GI symptoms due to low frequency of diarrhea and weight loss, but they were not statistically significant. CONCLUSIONS: Low activities of certain disaccharidase combinations may be associated with GI symptoms in subjects; a prospective study may be needed to investigate further.

Decision-making patterns in managing children with suspected biliary dyskinesia.

AIM: To explore and to analyze the patterns in decision-making by pediatric gastroenterologists in managing a child with a suspected diagnosis of functional gallbladder disorder (FGBD). METHODS: The questionnaire survey included a case history with right upper quadrant pain and was sent to pediatric gastroenterologists worldwide via an internet list server called the PEDGI Bulletin Board. RESULTS: Differences in decision-making among respondents in managing this case were observed at each level of investigations and management. Cholecystokinin-scintigraphy scan (CCK-CS) was the most common investigation followed by an endoscopy. A proton pump inhibitor was most commonly prescribed treating the condition. The majority of respondents considered a referral for a surgical evaluation when CCK-CS showed a decreased gallbladder ejection fraction (GBEF) value with biliary-type pain during CCK injection. CONCLUSION: CCK infusion rate in CCK-CS-CS and GBEF cut-off limits were inconsistent throughout practices. The criteria for a referral to a surgeon were not uniform from one practitioner to another. A multidisciplinary team approach with pediatric gastroenterologists and surgeons is required guide the decision-making managing a child with suspected FGBD. ​.

A challenge for diagnosing acute liver injury with concomitant/sequential exposure to multiple drugs: can causality assessment scales be utilized to identify the offending drug?

Drug-induced hepatotoxicity most commonly manifests as an acute hepatitis syndrome and remains the leading cause of drug-induced death/mortality and the primary reason for withdrawal of drugs from the pharmaceutical market. We report a case of acute liver injury in a 12-year-old Hispanic boy, who received a series of five antibiotics (amoxicillin, ceftriaxone, vancomycin, ampicillin/sulbactam, and clindamycin) for cervical lymphadenitis/retropharyngeal cellulitis. Histopathology of the liver biopsy specimen revealed acute cholestatic hepatitis. All known causes of acute liver injury were appropriately excluded and (only) drug-induced liver injury was left as a cause of his cholestasis. Liver-specific causality assessment scales such as Council for the International Organization of Medical Sciences/Roussel Uclaf Causality Assessment Method scoring system (CIOMS/RUCAM), Maria and Victorino scale, and Digestive Disease Week-Japan were applied to seek the most likely offending drug. Although clindamycin is the most likely cause by clinical diagnosis, none of causality assessment scales aid in the diagnosis.