Unknown presentation of a rare genetic disorder: Monogenic diabetes in young type 4 presenting with hepatic cysts and procoagulant state.

Maturity onset diabetes in young (MODY) is the most common form of monogenic diabetes, which characteristically presents in adolescents and young adults. Till date, pathogenic variations involving 14 different genes have been causally implicated with the development of MODY. Maturity onset diabetes in young type 4 (MODY-4) is a very rare form of MODY. We present here case of 28-year-old nonobese male patient with distinct family history of diabetes spanning two generations, incidentally, detected to have a rare form of diabetes on genetic analysis when he presented with recurrent thromboembolic manifestations: deep vein thrombosis and pulmonary thromboembolism. Our case highlights a previously unknown disease association of a rare genetic disorder. Increasing awareness about this genetic disorder and early identification of such cases will enhance our understanding of hitherto unknown disease associations and the pathophysiological role of genetic mutations. This may contribute to the improved treatment and prevention of debilitating diseases such as diabetes.

Renal vein thrombosis in pancreatitis: a rare vascular complication.

Extrasplanchnic venous thrombosis is a rare complication of chronic pancreatitis. Thrombosis of inferior vena cava and renal vein, in particular, is extremely rare. We present our recent experience of managing two patients of chronic pancreatitis who presented with renal vein thrombosis. We also highlight the treatment dilemmas facing a clinician managing patients with this atypical and rare vascular complication.

Liver function tests in COVID 19: A retrospective record-based study from a tertiary care centre in urban Maharashtra, India.

Background: COVID-19 is a multi system disorder and causes various abnormalities in liver function tests. The aim of this study was to estimate the prevalence of abnormal liver function tests in patients of COVID-19 and to describe the association of liver function tests with clinical features and disease severity in these patients. Methods: We retrospectively evaluated and analyzed the liver function tests of all real-time polymerase chain reaction (RT-PCR) positive COVID-19 patients admitted to a tertiary care hospital in Western Maharashtra. The Institutional Ethics Committee of our hospital approved the study. Results: Of the 533 patients included in our study, 50% had abnormal albumin levels while 40.1%, 43.5%, 9.3%, and 6.3% patients had deranged alanine transaminase (ALT) aspartate transaminase (AST), total protein and bilirubin levels, respectively. Hepatocellular injury was observed in 21 (3.9%) patients, and cholestatic liver injury was observed in seven (1.3%) patients. Abnormal liver function test (LFT) was significantly associated with disease severity but not with mortality. Conclusion: Abnormal LFT in patients of COVID-19 is associated with severe disease but not mortality. Liver injury is common in patients of COVID-19.

Can serum resistin predict severity of acute pancreatitis?

OBJECTIVE: Acute pancreatitis (AP) is a common disorder with high mortality in severe cases. Several markers have been studied to predict development of severe AP (SAP) including serum resistin with conflicting results. This study aimed at assessing the role of baseline serum resistin levels in predicting SAP. METHODS: This prospective study collected data from 130 AP patients from July 2017 to Nov 2018. Parameters measured included demographic profile, serum resistin at admission, severity scores, hospital stay, surgery, and mortality. Patients were divided into two groups, severe and non-severe AP. The two groups were compared for baseline characteristics, serum resistin levels, hospital stay, surgery and mortality. RESULTS: Among 130 patients, 53 patients had SAP. SAP patients had higher BMI, baseline CRP, APACHE II and CTSI scores (p-value 0.045, <0.001, <0.001 and 0.001, respectively). Both groups had comparable serum resistin levels. Serum resistin levels were also not different for obese and non-obese patients (p-value = 0.62). On multivariate analysis, BMI and high APACHE II score and CRP levels were found to independently predict SAP. CONCLUSION: We found that serum resistin is not a useful marker for predicting the severity of AP and does not correlate with increasing body weight.

Clinical complications seen in patients after recovery from coronavirus disease 2019: Experience from a COVID care center.

We have had recent experience that patients who have recovered from coronavirus disease 2019 (COVID-19) infection are being readmitted with thromboembolic complications, and some have had sudden cardiac death. There is paucity of literature on such presentations after clinical and microbiological recovery. In the present case series, we present five such patients recently managed at our COVID-19 care facility. All the patients described were elderly (mean age: 66 years) with multiple comorbidities (mean Charlson Comorbidity Index score: 3.5). Two were initially managed at another COVID care facility and discharged. They were admitted at our center within one week of discharge. One patient who was managed at our center was discharged and then readmitted. The other two had recovered from their illness and were planned for discharge (mean duration of hospital stay in initial admission: 14.4 days). All presented within one week of clinical and microbiological recovery (mean: 4.2 days). All were on adequate anticoagulation during initial presentation. All these patients had raised D-dimer levels (three suffered sudden cardiac arrest, one had a confirmed pulmonary thromboembolism, and one had acute ST-elevation myocardial infarction). Thromboembolic complications should be considered an important differential diagnosis in all patients who present with any complication in the immediate follow-up period of recovery from COVID-19 disease. Repeat analysis of D-dimer levels at follow-up may be considered in those who recovered from severe disease. Extended period of anticoagulation and close follow-up may be considered in all patients with COVID-19 who are at high risk of developing thromboembolic complications.

The psychological impact of COVID-19 among newly diagnosed patients: COVID Impact study.

BACKGROUND: COVID-19 has had adverse psychological impact on the general population. Most surveys published till date are online questionnaires targeting general population/health care providers. There is lack of data on the psychological impact of disease on newly diagnosed COVID-19 patients. METHODS: The study was conducted at a tertiary care hospital, actively involved in the management of COVID patients. Newly diagnosed COVID-19 patients who had presented to the outpatient COVID care clinic were interviewed face to face by an interviewer using 'Impact of Event Scale-Revised (IES-R)', a validated and universally accepted research questionnaire. RESULTS: Most of the respondents were males (83.2%), mean age: 40.8 years. 31.7% were graduates and 58.5% were actively employed. Fever (57.4%), cough (37.6%), and progressive breathlessness (08.9%) were the three most common clinical symptoms. The mean score on 'IES-R' was 31.8. 30.7% respondents had suffered 'severe' psychological impact, 30.7% had 'minimal' impact. 19.8% and 1.8% had 'mild' and 'moderate' psychological impact respectively. On linear regression analysis, increasing age had statistically significant corelation with increasing scores on 'IES-R scale' (p = 0.004). Educational qualifications of the patient had negative corelation (Pearson correlation=- 0.117) while none of the clinical parameters had any statistically significant correlation with the patients' psychological impact scores. CONCLUSION: COVID-19 patients are at an increased risk of suffering from disease-related adverse psychological impact. Certain risk groups especially like the elderly need close follow-up for early diagnosis and management. Future studies may be required to assess and manage 'post-traumatic stress disorder' that may arise in the aftermath of pandemic.

Reduction of intra-abdominal pressure after percutaneous catheter drainage of pancreatic fluid collection predicts survival.

OBJECTIVE: Intra-abdominal hypertension (IAH) can adversely affect the outcome in patients of acute pancreatitis (AP). Effect of percutaneous drainage (PCD) on IAH has not been studied. We studied the effect of PCD on IAH in patients with acute fluid collections. MATERIAL AND METHODS: Consecutive patients of AP undergoing PCD between Jan 2016 and May 2018 were evaluated for severity markers, clinical course, hospital and ICU stay, and mortality. Patients were divided into two groups: with IAH and with no IAH (NIAH). The two groups were compared for severity scores, organ failure, hospital and ICU stay, reduction in IAP and mortality. RESULTS: Of the 105 patients, IAH was present in 48 (45.7%) patients. Patients with IAH had more often severe disease, BISAP ≥2, higher APACHE II scores and computed tomography severity index (CTSI). IAH group had more often OF (87.5% vs. 70.2%, p = 0.033), prolonged ICU stay (12.5 vs. 6.75 days, p = 0.007) and higher mortality (52.1% vs. 15.8%, p < 0.001). After PCD, IAP decreased significantly more in the IAH group (21.85 ± 4.53 mmHg to 12.5 ± 4.42 mmHg) than in the NIAH group (12.68 ± 2.72 mmHg to 8.32 ± 3.18 mmHg), p = <0.001. Reduction of IAP in patients with IAH by >40% at 48 h after PCD was associated with better survival (63.3% vs. 36.7%, p = 0.006). CONCLUSION: We observed that patients with IAH have poor outcome. PCD decreases IAP and a fall in IAP >40% of baseline value predicts a better outcome after PCD in patients with acute fluid collections.

Association of socio-demographic factors with clinical outcome among hospitalized patients in first and second waves of COVID-19 pandemic: Study from the developing world.

Background: Recent disease resurgence in China indicates that corona virus infectious disease is still a pertinent public health problem. We stand at a juncture where we are still unsure about the initial dilemmas regarding its birth, therapies, and the emerging novel strains. Medical literature has focused on the clinical, laboratory, radiological, and therapeutic aspects of disease management. There is paucity of literature on the association between socio-demographic variables on disease severity and clinical outcome. Materials and Methods: This retrospective observational study analyzing the socio-demographic variables was performed at a dedicated COVID care center in western Maharashtra, India. Electronic records of all individuals who were admitted to this hospital from July 29 2020, to June 14, 2021, and diagnosed COVID-19 positive by reverse transcriptase polymerase chain reaction (RT-PCR) were identified after due institutional ethical clearance. Patients admitted from July 29, 2020, to February 27, 2021, were categorized as patients presenting during the 'first wave of viral pandemic'. Those admitted from March 01, 2021, to June 14, 2021, have been included as patients admitted during 'second wave of viral pandemic'. The following outcome parameters were collected (presenting symptoms, duration of symptoms before the individual presented for diagnostic RT-PCR, total duration of symptoms, severity of disease at onset, duration of hospital stay, the final outcome (discharge/death) and Charlson's comorbidity index). The linear regression model was used to establish association between socio-demographic factors and disease severity at onset (mild/moderate/severe/critical). Results: A total of 37033 patients were screened, and the positivity rate with RT-PCR was 16.99% (n = 6275) during the study period. Out of which 45% (n = 2824) of the patients had mild disease requiring home isolation and the remaining 55% of patients required admission. 1590 patients from the first wave and 910 from the second wave of COVID-19 were hospitalized and included in the study after exclusion. The mean age of patients in first wave was 49 years and that in second wave was 54 years with 77.6% and 70.6% males in two waves, respectively. The burden of critical cases was higher in second wave as computed to first wave (10% vs 8%). The second wave had more outreach in the rural population as compared to second one (17.8% vs 12.2%). The mean duration from the onset of symptoms to hospitalization was 03 and 04 days, respectively, in two waves. Mortality associated in two waves was 11.9% and 24%, respectively (P < 0.05). Higher Charlson's comorbidity index was associated with higher mortality, and the cumulative survival from urban area was more as compared to the rural population (log rank - 9.148, P = 0.0002). Conclusion: The second COVID-19 wave had significantly higher case mortality. It affected elderly patients and those with rural background. The factors associated with higher mortality during COVID-19 pandemic were rural background, higher Charlson's comorbidity index and late presentation to the hospital. Ongoing vaccine campaigns, thus, should focus on rural areas and individuals with comorbidities especially in developing and least developed countries.

Controversies in the management of acute pancreatitis: An update.

This review summarized the current controversies in the management of acute pancreatitis (AP). The controversies in management range from issues involving fluid resuscitation, nutrition, the role of antibiotics and antifungals, which analgesic to use, role of anticoagulation and intervention for complications in AP. The interventions vary from percutaneous drainage, endoscopy or surgery. Active research and emerging data are helping to formulate better guidelines. The available evidence favors crystalloids, although the choice and type of fluid resuscitation is an area of dynamic research. The nutrition aspect does not have controversy as of now as early enteral feeding is preferred most often than not. The empirical use of antibiotics and antifungals are gray zones, and more data is needed for conclusive guidelines. The choice of analgesic is being studied, and the recommendations are still evolving. The position of using anticoagulation is still awaiting consensus. The role of intervention is well established, although the modality is constantly changing and favoring endoscopy or percutaneous drainage rather than surgery. It is evident that more multicenter randomized controlled trials are required for establishing the standard of care in these crucial management issues of AP to improve the morbidity and mortality worldwide.

Association between the Distribution of Adipose Tissue and Outcomes in Acute Pancreatitis: A Comparison of Methods of Fat Estimation.

Purpose To assess the correlation between abdominal fat measured at computed tomography (CT) and dual-energy X-ray absorptiometry (DXA) and association with clinical outcomes in patients with acute pancreatitis (AP). Methods This prospective study comprised consecutive patients with AP who underwent abdominal CT and DXA. Fat estimation was done on whole-body DXA and abdominal CT. Correlations among body mass index (BMI), waist circumference (WC), DXA, and CT fat measurements were determined. The association between fat measurements and clinical outcomes was assessed. Results Fifty-nine patients (mean age 38.2 years, 48 males) were included. There was a strong correlation ( r = 0.691-0.799) between DXA and CT fat estimation. In addition, there was a significant association of the visceral adipose tissue (VAT) on DXA and CT with the severity of AP ( p = 0.039 and 0.021, respectively) and the need for drainage of collections ( p = 0.026 and 0.008, respectively). There was a weak correlation of the BMI and WC with the length of hospitalization (LOH) ( r = 0.121, 0.190, respectively) and length of intensive care unit stay (LOICU) ( r = 0.211, 0.197), while there was a moderate to strong correlation of the truncal fat and visceral fat on DXA and total adipose tissue and VAT on CT with LOH ( r = 0.562, 0.532, 0.602 and 0.614, respectively) and LOICU ( r = 0.591, 0.577, 0.636, and 0.676, respectively). Conclusion In conclusion, fat indices measured on DXA and CT are associated with the severity of AP. In addition, the fat measurements at DXA are strongly correlated with those obtained at CT.

Anemia in cirrhosis: An underestimated entity.

Anemia in a patient with cirrhosis is a clinically pertinent but often overlooked clinical entity. Relevant guidelines highlight the algorithmic approach of managing a patient of cirrhosis presenting with acute variceal hemorrhage but day-to-day management in hospital and out-patient raises multiple dilemmas: Whether anemia is a disease complication or a part of the disease spectrum? Should iron, folic acid, and vitamin B complex supplementation and nutritional advice, suffice in those who can perform tasks of daily living but have persistently low hemoglobin. How does one investigate and manage anemia due to multifactorial etiologies in the same patient: Acute or chronic blood loss because of portal hypertension and bone marrow aplasia secondary to hepatitis B or C viremia? To add to the clinician's woes the prevalence of anemia increases with increasing disease severity. We thus aim to critically analyze the various pathophysiological mechanisms complicating anemia in a patient with cirrhosis with an emphasis on the diagnostic flowchart in such patients and proposed management protocols thereafter.

Current and emerging therapeutic strategies in pancreatic cancer: Challenges and opportunities.

Pancreatic carcinoma (PC) is one of the leading causes of cancer-related deaths worldwide. Despite early detection and advances in therapeutics, the prognosis remains dismal. The outcome and therapeutic approach are dependent on the stage of PC at the time of diagnosis. The standard of care is surgery, followed by adjuvant chemotherapy. The advent of newer drugs has changed the landscape of adjuvant therapy. Moreover, recent trials have highlighted the role of neoadjuvant therapy and chemoradiotherapy for resectable and borderline resectable PC. As we progress towards a better understanding of tumor biology, genetics, and microenvironment, novel therapeutic strategies and targeted agents are now on the horizon. We have described the current and emerging therapeutic strategies in PC.

Contrast-enhanced endoscopic ultrasound features of tubercular lymphadenopathy.

There is lack of data on the contrast-enhanced endoscopic ultrasound features of tubercular lymph node; our retrospective analysis of 37 patients with enlarged mediastinal and abdominal lymph nodes showed heterogeneous enhancement in the great majority (70%).

Rodenticide-induced acute liver failure - Uncommon presentation of commonly available poison.

Rodenticide or 'rat poison' is easily available in a predominantly agrarian economy such as India. Metal phosphides or yellow phosphorous are two common rodenticides. Acute liver failure caused by accidental or suicidal poisoning with rodenticides has been infrequently reported in literature. Liver transplantation offers the best chances of survival in severe intoxication. However, the availability of liver transplantation in resource-limited settings presents a challenge. N-acetyl cysteine has been successfully used in paracetamol poisoning. Its use in rodenticide-induced acute liver failure is not so well known. We report three cases of rodenticide-related acute liver failure, one of them being a pregnant lady. All three patients were given N-acetyl cysteine and two patients improved. It is possible that the administration of N-acetyl cysteine contributed to the improvement in these two.

Diagnostic accuracy of the Xpert MTB/RIF assay for abdominal tuberculosis: a systematic review and meta-analysis.

BACKGROUND: We performed a meta-analysis to determine diagnostic accuracy of Xpert MTB/RIF for diagnosis of abdominal (intestinal or peritoneal) tuberculosis (TB) in various tissues (intestinal, omental/peritoneal tissue or ascitic fluid). METHODS: Electronic databases were searched for observational studies on use of Xpert MTB/RIF in ascitic fluid, peritoneal, or omental tissue for diagnosis of peritoneal and intestinal TB. We calculated the pooled sensitivity, specificity and diagnostic odds ratio of Xpert MTB/RIF for diagnosis of peritoneal TB in comparison to composite reference standard (CRS) and culture, and in comparison to CRS for intestinal TB. RESULTS: Twenty-five observational studies were included. The pooled sensitivity and specificity as assessed with peritoneal culture from ascites as an Index test was 64% (95% Confidence Interval [C.I.] 49-76%) and 97% (95% C.I., 95-99%) respectively and with peritoneal CRS was 30% (95% C.I., 22-40%) and 100% (95% C.I., 98-100%) respectively. In the intestinal group, the pooled sensitivity and specificity of Xpert MTB/RIF was 23% (95% C.I., 16-32%) and 100% (95% C.I., 52-100%). The AUC of peritoneal culture and intestinal tissue was 0.935 and 0.499. CONCLUSION: Xpert MTB/RIF has modest sensitivity for diagnosis of peritoneal and intestinal tuberculosis but has a good specificity. PROSPERO REGISTRATION: CRD42020140545.

Clinical manifestations, imaging features, and endoscopic management of renal pseudocysts: a case series.

BACKGROUND: Renal pseudocysts (RP) are rare and we know little about their presentation and management. In the present case series, we present the pertinent clinico-radiological features as well as the role of endoscopic drainage in symptomatic RP. METHODS: A retrospective analysis was performed of patients with RP seen in our unit over the last 12 years. Patient symptoms, imaging findings and details of endoscopic or endoscopic ultrasound (EUS)-guided drainage procedures were evaluated. RESULTS: Eight patients with RP (7 male; mean age: 33.1 years) were studied. Seven patients had underlying chronic pancreatitis (calcific in 3), predominantly alcohol-related. The mean size of the RP was 8.5 cm. All patients presented with abdominal pain and none had urinary complaints. The RP could be well detected on both contrast-enhanced computed tomography and EUS. None of the patients had significant debris on EUS. Five patients were treated with combined transmural and transpapillary drainage, 2 patients were treated with transpapillary drainage alone, while combined percutaneous and transpapillary drainage was performed in 1 patient. All patients had partial disruption of the main pancreatic duct and a bridging transpapillary endoprosthesis was successfully placed. The RP resolved in all patients within 2-6 weeks and no patient required surgery. There were no complications and no patient had recurrence of RP over a follow-up period of 3-118 months. CONCLUSION: RP are usually associated with abdominal pain and do not cause renal symptoms. Endoscopic drainage is a safe and effective minimally invasive management option for RP.

Fat-modified computed tomography severity index (CTSI) is a better predictor of severity and outcome in patients with acute pancreatitis compared with modified CTSI.

BACKGROUND: The amount of intra-abdominal fat on CT correlates positively with the severity of acute pancreatitis (AP). The objective of the study was to evaluate a fat-modified CT severity index (FMCTSI) and compare its performance with MCTSI. MATERIALS AND METHODS: For this retrospective study, 99 patients with AP who underwent contrast-enhanced CT between 3 and 7 days after pain onset were divided into a training cohort (n = 75) and a validation cohort (n = 24). MCTSI was calculated. The total adipose tissue (TAT), visceral adipose tissue (VAT), and total to visceral fat ratio (TVFR) were computed using semi-automatic software. These parameters were given a score of 1-3. FMCTSI was calculated by adding the fat score to MCTSI. Concordance for diagnosing the severity of AP was assessed. Areas under receiver operating characteristic curves (AUC) for predicting clinical outcomes were compared between FMCTSI and MCTSI. The diagnostic performance of the FMCTSI in the validation cohort was also evaluated. RESULTS: In the training cohort, our proposed FMCTSI performed better than MCTSI for all the outcome parameters. The highest concordance for the severity of AP was achieved for VAT-MCTSI. For all outcome parameters, the highest AUC was seen for TVFR-MCTSI. In the validation cohort, the FMCTSI achieved diagnostic performance similar to the training cohort with the highest AUC for TVFR-MCTSI. CONCLUSION: FMCTSI is a better CT index than MCTSI for predicting the severity and clinical outcomes of AP. Among the various FMCTSI parameters, TVFR-MCTSI is the best performer.

Extra-abdominal involvement is associated with antitubercular therapy-related hepatitis in patients treated for abdominal tuberculosis.

AIM OF THE STUDY: Incidence and predictors of antitubercular therapy (ATT)-related hepatitis in abdominal tuberculosis are not known. The aim of the study was to identify the incidence and predictors of ATT-induced hepatitis in abdominal tuberculosis. MATERIAL AND METHODS: A retrospective analysis of patients who received ATT for suspected abdominal tuberculosis with complete follow-up was done. We excluded patients with underlying chronic or acute liver disease necessitating an alteration in the usual ATT at start. We recorded the occurrence of ATT-induced hepatitis and compared patients with and without ATT hepatitis for any predictors of ATT-induced hepatitis. RESULTS: Of 163 patients, 22 were excluded (17 missing information, 5 chronic liver disease). One hundred and forty-one patients (mean age: 34.33 ±15.18 years, males: 72) were included. The Mantoux test was positive in 78; 1 had HIV and 32 had an abnormal chest X-ray. Six patients had an alternative diagnosis and 11 needed surgery. Forty-nine (34.8%) had extra-abdominal involvement. Ten patients (7.1%) developed ATT-induced hepatitis. Patients with extra-abdominal tubercular involvement had a greater risk of developing ATT-induced hepatitis (p-value 0.003). None of the other parameters including hematological tests, liver function tests and biochemical parameters were different between the two groups. CONCLUSIONS: Seven percent of patients treated for abdominal tuberculosis developed ATT hepatitis. Presence of extra-abdominal involvement was associated with ATT hepatitis.