Novel IRF2BPL gene mutation manifesting as a broad spectrum of neurological disorders: a case report.

Background: IRF2BPL (interferon regulatory factor 2-binding protein-like) gene is an intronless gene present ubiquitously in the human body, including the brain. Pathogenic variants lead to neurodegeneration and present with phenotypic features of a neurological disorder, including dyslexia, dyscalculia, epilepsy, dystonia, neurodevelopmental regression, loss of motor skills and cerebellar ataxia. Case: We present a case of a 9-year-old boy who was brought to the emergency department with generalised tonic-clonic seizures and mild hypotonia. A history included neurological regression. After insignificant lab and imaging results, the patient underwent genetic testing, revealing a novel pathogenic mutation in the IRF2BPL gene (heterozygous variant), which had never been reported in the literature before. An autosomal dominant loss of function mutation was demonstrated, denoting in DNA as NM_0 24 496 c.911 C>T, which results in premature protein termination (p.Glu494). Conclusion: Our case highlights the importance of early recognition of the neurological symptoms associated with various IRF2BPL gene mutations so that a timely multidisciplinary management approach can be provided.

Linezolid induced psychosis and hallucination: Case report and literature review.

Introduction: Various classes of antibiotics have been linked to causing a wide range of neuropsychiatric symptoms. These manifestations range from psychosis and delirium to encephalitis and intracranial hypertension. The prevalence of psychosis adverse drug reactions (ADRs) for individual antibiotics ranges from 0.3 to 3.8%. We report a rare case of linezolid-induced psychosis and hallucination. Case presentation: We report a 52-year-old Asian gentleman who presented with an altered level of consciousness and hallucinations. He was treated for third-degree burns of 31% of the body for two months. Based on clinical and laboratory investigations, linezolid-induced psychosis and hallucination were diagnosed. His Naranjo probability score was +8. The drug was stopped, and the patient recovered successfully. Conclusion: On rare occasions, toxic blood levels of linezolid can lead to neuropsychiatric manifestations. Both linezolid-induced psychosis and hallucinations are manageable by suspension of the drug. Therefore, physicians should monitor the blood levels of this antibiotic to keep their patients safe from such serious adverse effects.

An unusual presentation of transverse colon volvulus in a patient with Williams Syndrome: Case report and literature review.

Introduction: and Importance: Williams Syndrome (WS) is a well-recognized genetic disorder characterized by multi-system clinical manifestations. However, there are very rare gastrointestinal complications associated with patients with Williams Syndrome. We report the first transverse colon volvulus (TCV) case in an adult with pre-diagnosed Williams Syndrome. Case presentation: We report a case of a 22-year-old South Asian adult who presented with complaints of generalized progressive abdominal pain, distension, bilious vomiting, and constipation. Detailed history, physical examination, and radiological investigations confirmed the diagnosis of transverse colon volvulus. A subtotal colectomy with end-to-end anastomosis was done. Conclusion: Patients with Williams Syndrome can develop rare gastrointestinal complications like transverse colon volvulus due to congenital/physiological predisposing factors. It is a surgical emergency and should be diagnosed and managed optimally. In addition, physicians should keep TCV in differential diagnoses while dealing with patients of Williams Syndrome presenting with acute or subacute abdominal pain.

A novel chest CT severity score in COVID-19 and its correlation with severity and prognosis of the lung disease: A retrospective cohort study.

Background: HRCT chest has a high sensitivity in the diagnosis of patients with COVID-19 infection. Through our study, we intend to evaluate the diagnostic accuracy and inter-reader variability of a semi-quantitative CT severity score, a novel parameter designed for risk stratification and prognostication of COVID-19 pneumonia with clinical staging of disease. Methods: It was a single-center retrospective analysis performed on an original cohort of 4180 symptomatic patients with the suspicion of SARS-CoV-2 interstitial pneumonia. Out of 4180, a total of 4004 patients with COVID-19 were confirmed by an RT-PCR. We used an HRCT chest severity score (CT-SS) to evaluate the COVID-19 disease burden on the initial scan obtained at admission. The data were analyzed with IBM SPSS Statistics Version 22.0 Release 2013. Results: Our study subjects demonstrated the most common clinical features fever, cough, dyspnea, and body aches. Raised CRP levels (CRP >0.5 mg/dL) were found in 81.86% and increased D-dimer levels (>500 ng/mL) were found in 92.3% of patients. The most common radiological findings of the disease included ground-glass opacities, observed in 98.8%. Our study has a sensitivity of 89.2%, a specificity of 94.8%, a positive predictive value (PPV) of 90.6%, and a negative predictive value (NPV) of 94%. Conclusion: As per our findings, this novel CT scoring system might aid in the risk stratification and the short-term prognostication of patients suffering from COVID-19 pneumonia. This will eventually help in curtailing the extensive burden on the healthcare system amid the current pandemic.

An unusual presentation of recurrent COVID-19 associated systemic capillary leak syndrome in a patient with multi-system inflammatory syndrome in adults (MIS-A) due to prior COVID-19 infection: Case report and literature review.

Introduction: and importance: Systemic capillary leak syndrome (SCLS) and multisystem inflammatory syndrome in adults (MIS-A) are very rare multifactorial etiology disorders associated with COVID-19 infection. Both conditions are thought to be manifested by the inflammatory state induced by COVID-19 infection. Recurrent COVID-19-associated concomitant/successive manifestations of both disorders have not been reported yet. Case presentation: We report a 38-year-old Asian gentleman who presented initially with fever, cough, shortness of breath, body aches, dizziness, and epigastric pain due to COVID-19 infection. A few days before this presentation, the same patient developed multisystem inflammatory syndrome in adults (MIS-A). Later, based on clinical and laboratory investigations, he was diagnosed with new-onset systemic capillary leak syndrome (SCLS). Despite resuscitative measures, the patient passed away. Clinical discussion: The increased risk of inflammatory complications associated with COVID-19 infection is an emerging concern. Our case report signifies the importance of COVID-19 awareness in less educated and underserved areas with fewer information resources. Rare and fatal manifestations should also be advertised and discussed with the general masses with equal emphasis. Conclusion: This case signifies the importance of understanding the pathophysiology of new-onset systemic capillary leak syndrome in a patient with recurrent COVID-19 infection and utilizing clinical knowledge and decision-making to manage such rare and complex disorders.

Comparison of the Efficacy of Rosuvastatin 5 mg and 10 mg in Patients of Type 2 Diabetes Mellitus With Dyslipidemia.

Objectives We did this study intending to compare the efficacy of rosuvastatin 5 mg and 10 mg in patients of type 2 diabetes mellitus with dyslipidemia by validating their effect on lipid profile and the side effects. Methodology This study was carried out at the outpatient department of a tertiary care hospital in Multan. Three hundred patients of both genders were included. The research approach employed a parallel-controlled, randomized study. After taking relevant history and physical examination, each patient's fasting venous blood samples were taken and sent to the institutional laboratory to analyze glycated hemoglobin (HbA1c), baseline lipid levels for cholesterol, triglycerides, low-density lipoprotein (LDL), very-low-density lipoprotein (VLDL), and high-density lipoprotein (HDL). Patients were divided into two groups based on the drug administered. One group was prescribed rosuvastatin 5 mg, and the other group was prescribed rosuvastatin 10 mg. Patients were followed up after six months to record the latest lipid profile. Data analysis was done through SPSS version 24. Results Patients in the two groups had similar lipid levels to start with. After six months of therapy, total serum cholesterol, triglycerides, and LDL-C were reduced to statistically significant levels in group two compared to group one. However, both groups showed a similar increase in serum levels of HDL-C. Patients treated with 10 mg rosuvastatin showed a slight decrease in BMI. Nine patients treated with 10 mg rosuvastatin reported myalgias compared to only one patient treated with a dose of 5 mg (p<0.005). Conclusion Our study concludes that both 5 mg and 10 mg of rosuvastatin exhibit the antihyperlipidemic effect, but high doses are associated with more side effects. Therefore, physicians should be aware of dose titration related to statins as it will ultimately lead to reduced cardiovascular mortality.

Diversity and Inclusion in Internal Medicine Training Programs: An Unfulfilled Dream.

Background Promoting a diversified healthcare force fosters more culturally centered care, expands the approach to high-quality healthcare for poorly served populations, improves patient contentment, and broadens research agendas, all components essential to minimize healthcare imbalances. Our study reviews the trends of gender and racial disparity in Internal Medicine residency programs. Methodology In this retrospective analysis, we extracted data from the Accreditation Council for Graduate Medical Education's annual Data Resource Books from 2007 to 2019. Gender was reported as males and females. Race/ethnicity was cataloged as White/non-Hispanic, Black/non-Hispanic, Hispanic, Asian or Pacific Islander, Native American/Alaskan, others, and unknown. Results The representation of women increased progressively, with a relative increase of 4.7% from 2007 to 2019. For race/ethnicity, the study period started from the year 2011. When averaged across the eight-year study period, 27% of the study sample were White (non-Hispanic), followed by Asian/Pacific Islanders at 21%. The representation of other races was even lower. For 36.2% of the residents, the racial data were not known and categorized as unknown racial distribution. Conclusions Our study reports that gender and racial/ethnic imbalance persists within the training programs of Internal Medicine. Effectual strategies should be implemented to improve access to care to the underrepresented communities, address physician shortages in different areas of the country, and strengthen our ability to address long-established disparities in healthcare and outcomes.

Fibroblast Growth Factor 21 and Its Association With Oxidative Stress and Lipid Profile in Type 2 Diabetes Mellitus.

Introduction Cardiovascular diseases are the leading cause of mortality in diabetic patients. Oxidative stress and mitochondrial dysfunction lead to diabetic cardiomyopathy (DCM) characterized by impaired cardiac structure and function. Hyperglycemia causes oxidative stress, which can lead to microvascular complications, macrovascular complications, and atherosclerosis. Peripheral tissues produce fibroblast growth factor 21 (FGF-21), which has anti-inflammatory properties, increases oxidation of fatty acids, and improves insulin sensitivity. Its increased levels are found in metabolic syndrome and type 2 diabetes mellitus and may also lead to coronary heart disease. Our study sought to measure the serum FGF-21 levels and their associations with lipid profile parameters and oxidative stress in patients with type 2 diabetes mellitus. Methodology One-hundred fifty (150) patients of both genders with type 2 diabetes mellitus were recruited along with 150 controls. Simple random sampling was done. After taking relevant history and physical examination, we drew venous blood samples of each patient and sent them to the institutional laboratory for analysis of fasting blood sugar (FBS) levels, glycated hemoglobin (HbA1C), lipid profile, and FGF-21 serum levels. Oxidative stress parameter malondialdehyde (MDA) was estimated and the total antioxidant status by ferric reducing antioxidant power assay (FRAP) was assessed. Patients were followed up after three months to record the glycemic index, and the values were recorded. We used SPSS Software 25.0 (SPSS, Inc., Chicago, USA) to analyze the data. For consideration of results to be statistically significant, a 𝑃 value of < 0.05 was selected. Results The levels of serum cholesterol, triglycerides, and low-density lipoprotein (LDL) cholesterol were increased in diabetics compared to controls and were statistically significant (p<0.05). High-density lipoprotein (HDL) cholesterol was lower in diabetic patients as compared to the controls (p<0.05). There was a statistically significant increase in the level of MDA in diabetics compared to controls (p˂0.005). Serum levels of total antioxidant status (FRAP) were decreased in diabetics in comparison with controls (p˂0.005). Serum FGF-21 level was statistically increased in diabetics compared to controls (p˂0.005). FGF-21 and MDA are positively correlated and FGF-21 and FRAP are negatively correlated. Serum FGF-21 is positively correlated with total cholesterol, triglycerides, serum LDL cholesterol, and HDL cholesterol. Conclusion Our study concludes that there is a significant correlation between fibroblast growth factor 21, oxidative stress, and abnormal lipid profile in type 2 diabetic patients. FGF-21 could be the target of certain medications used to treat metabolic disorders and obesity.

Gender and Racial Trends Among Vascular Neurology Fellowship Programs: By Design or By Default.

Introduction Benefits of increasing diversity in teams include the addition of different perspectives leading to increased innovation and creativity, faster problem solving, improved workforce morale, and reduced burnout leading to improved patient outcomes. This article reviewed the trend of gender and racial disparity in vascular neurology fellowship programs. Methods We retrospectively analyzed the data extracted from the Accreditation Council for Graduate Medical Education (ACGME)'s annual Data Resource Books from 2007 to 2019. ACGME cataloged gender as men and women and race/ethnicity was categorized as White/Non-Hispanic, Asian or Pacific Island, Hispanic, Black/Non-Hispanic, Native American/Alaskan, others, and unknown. Counts, proportions, relative, and absolute percentage changes were calculated to highlight trends in resident appointments over time and across the specialty of vascular neurology. Results The representation of females increased steadily; with a relative increase of 11.78% from the year 2007 to 2019. Race/ethnicity was reported starting from the year 2011. When averaged across the nine-year study period, 35% of the study sample was White (Non-Hispanic), followed by Asian/Pacific Islanders at 25%. The representation of Hispanics was 4.8%, Black/African Americans were 3%, Native Americans/ Alaskans were 0.23% and Others were 13% of the total study population. For 17.7% of the fellows, racial data were not known and was categorized as Unknown racial distribution. Conclusion Our study concludes that gender and racial disparity persists within the fellowship programs of vascular neurology. Effective strategies at individual, administrative, and national levels are needed to engage women and under-represented minorities in vascular neurology as a career choice.

Sticky Floor, Broken Ladder, and Glass Ceiling: Gender and Racial Trends Among Neurosurgery Residents.

Introduction Diversity and equity in academic medicine are critically important in improving healthcare standards and patient-related outcomes. Gender and racial disparities are some major challenges faced by the health system. This article reviews the gender and racial trends among residents of neurosurgery in the United States (US). Methods We retrospectively analyzed the data extracted from the Accreditation Council for Graduate Medical Education (ACGME)'s annual Data Resource Books from 2007 to 2019. ACGME cataloged gender as men and women and race/ethnicity was categorized as White/non-Hispanic, Asian or Pacific Island, Hispanic, Black/non-Hispanic, Native American/Alaskan, others, and unknown. Counts, proportions, relative, and absolute percentage changes were calculated to highlight trends in resident appointments over time and across the specialty of neurosurgery. Results The number of female residents increased steadily from 10.6% in 2007 to 19.3% in 2019; with an absolute increase of 8.74%, a relative increase of 63.9%, and a simultaneous decrease in male residents. When averaged across the nine-year study period, 51% of the study sample was White (non-Hispanic), followed by Asian/Pacific Islanders at 15.2%. The representation of Hispanics was 4.3%, Black/African Americans were 4.5%, Native Americans/Alaskans were 0.2%, and others were 8% of the total study population. Conclusion Our study concludes that gender and racial disparity persist within the neurosurgery residency training programs in the US. Concrete efforts at all academic levels are needed to provide greater support for the females and for the careers of underrepresented minority (URM) trainees to ensure their increased representation in neurosurgery.

A Rare Case of Diffuse Neurofibroma of the Scalp With Destructive Lesions Involving the Base of the Skull in a Patient With Neurofibromatosis Type 1.

Diffuse neurofibroma is a benign tumor of peripheral nerves. Ten percent of neurofibromatosis type 1 (NF-1) patients can develop diffuse neurofibroma. Here, we report a case of diffuse neurofibroma involving the base of the skull in a 50-years-old patient with NF-1. The patient presented with diffuse involvement of the scalp with soft and mobile masses. Radiological investigations revealed skull bone lesions. Aggressive osteolytic lesions involving the base of the skull were present. Surgical excision with the repairing of the defects was suggested but the patient refused the treatment. The diagnosis of calvarial defects in diffuse neurofibroma is challenging. Early diagnosis can help in better management of the patients.

A Rare Case of Non-Gestational Metastatic Ovarian Choriocarcinoma: Case Report and Literature Review With a Special Emphasis on Imaging.

Non-gestational choriocarcinoma of the ovary is a very rare neoplasm. It carries a worse prognosis as compared to gestational choriocarcinoma (GCC). Here, we report a case of non-gestational ovarian choriocarcinoma. The patient initially presented in a medical emergency with abdominal pain, a feeling of heaviness in the lower abdomen, cough, and dyspnea. The patient had four healthy children, and the last childbirth was five years ago. There was no history of any abortion or stillbirth in the past four years. A highly vascular left adnexal mass was observed on ultrasound abdomen and pelvis. Compute CT chest, abdomen, and pelvis were performed, which revealed metastatic left ovarian choriocarcinoma features. It also showed vascular metastases of the carcinoma in the kidneys, liver, and lungs. We report this case specifically emphasizing ultrasound, multidetector computed tomography (MDCT), and CT angiography findings.

Comparison of Metformin and Repaglinide Monotherapy in the Treatment of New-Onset Type 2 Diabetes Mellitus.

Objectives We intend to investigate the feasibility of using repaglinide as initial therapy in patients with newly diagnosed type 2 diabetes mellitus naive to the oral anti-hyperglycemic agents by validating the effects of repaglinide on glycemic control (HbA1c) in comparison with metformin monotherapy. Methodology This parallel-controlled, randomized study was carried at the outpatient department of a tertiary care hospital. Two-hundred patients of both genders with newly diagnosed type 2 diabetes mellitus were included. After taking relevant history and physical examination, we drew venous blood samples of each patient and sent them to the institutional laboratory for analysis of fasting blood sugar (FBS) levels, HbA1c, and lipid profile. We divided the patients into two subgroups based on the lottery method. Group A was prescribed metformin, and group B was prescribed repaglinide, while the dosages were adjusted according to the blood sugar levels. All data were analyzed using SPSS Software 25.0 (SPSS Inc., Chicago, USA). We reported the data as means along with the standard error. Results All patients completed the study. There was a decline in fasting blood glucose levels after three months of therapy, both in the metformin (135 mg/dl ± 6 mg/dl versus 115 mg/dl ± 7 mg/dl, p < 0.01) and repaglinide groups (145 ± 6 mg/dl versus 122 ± 6 mg/dl, p < 0.01). Similarly, significant reductions in HbA1c were seen in both metformin (7.12 ± 0.15% versus 6.67 ± 0.06%, p < 0.01) and repaglinide treatment groups (7.83 ± 0.67% versus 6.81 ± 0.07%, p < 0.01). After three months of treatment, body mass index (BMI) was significantly decreased in the metformin group (26.87±1.1 kg/m2 versus 25.11 ± 0.44 kg/m2, p < 0.05). However, the patients in repaglinide group demonstrated a very slight decrease in BMI (27.11 ± 1.6 kg/m2 versus 26.47 ± 0.40 kg/m2). On follow-up, we found a significant decrease in triglyceride levels in both groups (p < 0.01 and p < 0.05. respectively). We also found that only the patients in metformin group showed some improvements in total cholesterol and low-density lipoprotein (LDL) levels (p < 0.05). Conclusion Our study concluded that both metformin and repaglinide have similar anti-hyperglycemic effects. Repaglinide can be prescribed as an alternative drug to metformin in patients with new-onset diabetes mellitus.

Hyponatremia and Its Correlation With Hepatic Encephalopathy and Severity of Liver Disease.

Background and objective Hepatic cirrhosis is one of the leading causes of morbidity and mortality worldwide. Patients with cirrhosis frequently develop complications such as ascites, variceal bleeding, and hepatic encephalopathy (HE). The clinical manifestations of HE range from the mildly altered level of sensorium to severely altered consciousness levels, difficulty in judgment, the day-night reversal of sleep, flapping tremor of hands, and irrelevant talking or speech. Patients with hyponatremia are at a higher risk of developing HE and electroencephalographic abnormalities. The severity of hyponatremia is directly related to the deterioration in terms of grades of HE. Our study sought to determine the frequency of hyponatremia in cirrhotic patients and its correlation with the frequency and severity of HE. Methodology This study was carried out at the inpatient department of medicine in a tertiary care hospital in Pakistan. A total of 260 patients of both genders with hepatic cirrhosis were approached. After taking relevant history and physical examination, the venous blood sample of each patient was drawn and sent to the institutional laboratory for estimation of serum electrolytes, liver function tests (LFTs), renal parameters (RPMs), prothrombin time (PT), activated partial thromboplastin time (aPTT), and international normalized ratio (INR). We classified the HE according to the West Haven classification system. Mild to moderate encephalopathy was classified under grades I-II, while severe encephalopathy was classified under grades III-IV. We documented the severity of liver disease according to the Child-Pugh score criteria. All data were analyzed by using SPSS Statistics version 25.0 (IBM, Armonk, NY). We reported the data as means along with the standard error. Results Overall, the serum sodium levels of the subjects ranged from 115 to 142 meq/L with a mean of 129.11 ±6.53 meq/L. In patients with hyponatremia, it ranged from 115 to 127 meq/L (mean 121.41 ±5.17 meq/L). Hyponatremia was present in 96 (36.9%) patients. Among these, 51 (53.12%) were male and 45 (46.8%) were female; 24 (9.2%) patients had mild hyponatremia, 56 (21.5%) had moderate, and 16 (6.2%) had severe hyponatremia. HE was present in 176 (67.7%) patients. HE grade I was present in 54 (20.8%), grade II in 62 (23.8%), grade III in 32 (12.3%), and grade IV in 28 (10.8%) patients. In 96 patients with hyponatremia, 84 were found to have HE (p-value: <0.001). Conclusion Based on our findings, cirrhotic patients with chronic hepatitis infections have a variable presence of low sodium levels. Sodium levels of <130 meq/L were associated with higher morbidity and mortality rate. Moreover, patients with lower levels of sodium had higher grades of HE.

Bilateral Persistent Hyperplastic Primary Vitreous: A Case Report and Review of the Literature.

Bilateral persistent hyperplastic primary vitreous (PHPV) is a rare ocular disorder. Its clinical manifestations include bilateral corneal haziness, microphthalmia, and cataract. It is the second most common cause of leukocoria after retinoblastoma. Most cases of PHPV are unilateral. The typical imaging features of PHPV comprise bilateral echogenic masses and a fibrous cord extending from the posterior surface of the lens to the optic disc. In this report, we present a case of bilateral PHPV in an infant who presented with bilateral corneal haziness and watery discharge. A detailed ocular examination and knowledge about its features on imaging can lead to a timely and accurate diagnosis of the condition.

Association of Lipid and Body Mass Index Profile With Chronic Hepatitis C Infection Stratified by Age and Gender.

Background In this study, we aimed to determine the association of lipid and body mass index (BMI) profiles among cases having chronic hepatitis C virus (CHCV) infection. Methodology This cross-sectional study was conducted in the outpatient department of a tertiary care hospital. A total of 320 cases of both genders, aged 18 to 60 years, with CHCV infection were enrolled in the study. After obtaining relevant history and conducting a physical examination, the venous blood sample of each patient was taken and sent to the institutional laboratory to analyze serum total cholesterol, serum triglyceride, low-density lipoprotein, and high-density lipoprotein levels. BMI of all the study participants was also noted. Results Of the total 320 cases, there were 152 (47.5%) males and 168 (52.5%) females. The overall mean age was 42.92 ± 11.38 years. Most cases [97 (30.3%)] were in the 41 to 50-year age group. Overall, the mean BMI was 27.75 ± 4.59 kg/m2. Dyslipidemia was noted in 144 (45.0%) cases. Increasing age and increasing BMI were found to have statistical significance with the presence of dyslipidemia (p < 0.05). Conclusions Increasing age and BMI have a significant association with dyslipidemia in patients with CHCV infection. Lipid profile appears to differ among different age and BMI groups.

Dyke-Davidoff-Masson Syndrome: A Case Report and Review of Literature.

Dyke-Davidoff-Masson syndrome (DDMS) is a rare neurological disorder that results from brain injury in intrauterine or early years of life. Prominent cortical sulci, dilated lateral ventricles, cerebral hemiatrophy, hyperpneumatization of the frontal sinus, and compensatory hypertrophy of the skull are the characteristic findings. We describe a male patient who presented with generalized tonic-clonic seizure and left-sided body weakness and neuroimaging findings of cerebral hemiatrophy, dilatation of right lateral ventricle, right frontal sinus hyperpneumatization, and asymmetric calvarial thickening. Knowledge of its features on imaging enables timely and accurate diagnosis, allowing appropriate management.