Congenital Erythropoietic Porphyria: A Rare Inherited Disorder.

Congenital erythropoietic porphyria (CEP), also known as Gunther's disease, is an uncommon autosomal recessive disorder caused by a mutation in the uroporphyrinogen III synthase gene. This mutation results in reduced enzyme levels in heme synthesis and the accumulation of pathogenic porphyrin isomers, uroporphyrin I and coproporphyrin I, leading to the clinical manifestations of CEP. Typically, CEP manifests shortly after birth with severe cutaneous photosensitivity, blistering, ulceration, and scarring. Erythrodontia, acro-osteolysis, and skeletal abnormalities are frequently present in conjunction with it. It can even manifest in utero as hydrops fetalis, with pink or red diaper staining as an early diagnostic clue. In this case, we present a 17-year-old male with complaints of discharge over the left foot, blisters upon sunlight exposure, extensive mottled pigmentation, excessive facial hair, mutilated fingers, and verrucous growth over the toes. Using a Wood's lamp revealed pink fluorescence of teeth and ulcers on the foot. Laboratory investigations demonstrated anemia, leukocytopenia, thrombocytopenia, and elevated urine uroporphyrin 1 and coproporphyrin 1 levels. Current treatment approaches include sun protection to avoid further skin damage, beta-carotene to reduce oxidative stress, and blood transfusions to manage anemia. Stem cell transplantation remains the sole curative therapy for this exceedingly rare condition. This case report underscores the rarity and complexity of CEP and emphasizes the challenges in its management.

A Remarkable Case of Acute Stroke Unveiling Congenitally Corrected Transposition of Great Arteries.

Acute stroke and the transposition of great arteries are two distinct medical entities that rarely intersect in clinical practice. Acute stroke, a devastating neurological event, occurs due to a sudden interruption of blood flow to the brain, leading to focal neurological deficits. On the other hand, the transposition of great arteries is a congenital heart defect characterized by a complete reversal of the aorta and pulmonary artery, resulting in abnormal blood circulation. Traditionally, transposition of great arteries is diagnosed in infancy and managed with surgical interventions. However, instances of this condition being discovered in adulthood are exceedingly rare. We present the case of a 35-year-old male who presented to the emergency department with acute stroke symptoms such as sudden-onset left-sided weakness and speech difficulties. Upon further investigation, we uncovered an unexpected finding of congenitally corrected transposition of great arteries, a congenital heart defect usually diagnosed in infancy. The patient's medical history was unremarkable for cardiovascular issues, making this association even more intriguing. The clinical course of the patient involved immediate management of the acute stroke, followed by comprehensive cardiac evaluations to assess the implications of the transposition of great arteries. Cardiac imaging revealed anatomical variations and hemodynamic consequences, prompting a multidisciplinary approach to address both conditions.

Rapid N-Terminal Pro-B-Type Natriuretic Peptide (NT-proBNP) Kit as a Differentiating Tool for Acute Dyspnea in a Resource-Limited Setting.

Introduction Dyspnea is among the most prevalent symptoms experienced by patients presenting as an emergency. The underlying etiology is often a cardiovascular or pulmonary condition, of which heart failure is recognized as a major contributor. The differentials are primarily established based on the patient's clinical presentation and physical examinations but are not conclusive. Of the various investigations undertaken to determine the cause of dyspnea, the biomarker N-Terminal Pro-B-Type Natriuretic Peptide (NT-proBNP) was found to be significantly associated with heart failure. Its level has been proven to be in direct correlation with the severity of the disease. This study demonstrates the usability of an economical rapid test kit in measuring NT-ProBNP levels to help differentiate the cause of dyspnea in the presenting patient in a resource-limited setting. Methodology We studied 115 participants from a tertiary care center in India, which included 70 males and 45 females aged ≤30 to ≥75 years, presenting with shortness of breath. Rapid NT-ProBNP tests were conducted alongside recording their symptoms, vitals, examination findings, and other parameters. They were also classified according to New York Heart Association (NYHA) Classification, and further investigated. Results The study elucidated the efficacy and accuracy of the rapid kits in determining NT-ProBNP levels, and its relation with the severity and prognosis of heart failure. The kits utilized had a sensitivity of greater than 93% for ruling out heart failure as a cause of dyspnea, and a sensitivity of greater than 96% for ruling out elevated NT-ProBNP levels in general. Other parameters such as presenting symptoms and vitals were also analyzed, establishing a correlation with NT-ProBNP levels.  Conclusion This study guided us in understanding the effective utilization of the rapid testing kits for emergency care, minimizing the burden on other limited resources. The lower cost and ease of use would serve as a quick means of reaching a conclusive diagnosis, especially in an emergency, which in turn would aid in receiving timely and specific treatment. These kits could act as a stepping stone in creating a sustainable and efficient healthcare system for patients as well as healthcare workers.

Impact on Tuberculosis Notification During COVID-19 Pandemic in India: A Narrative Review.

Various programs are being weakened due to the COVID-19 pandemic, and the tuberculosis (TB) program is no exception. TB case detection and notification is one of the worst affected areas. The study aims to assess India's TB reporting status during this pandemic and find possible solutions. Data analysis has been obtained from the India TB notification open-source database. Relevant literature research has been done to determine the measures based on various efforts made by different Indian states. There was a review of all TB notifications in 2019, 2020, and 2021 and a deficiency in notifications. Between 2019 and 2021, the country's TB notification ratio experienced a significant adaptation. In 2020, all states reported a decline in private and public TB case reports. In the nation, only a few private TB notifications were lost. In April 2020, there were the fewest notifications, which began to decline in February 2020. When states began implementing cutting-edge programs like the Integrated TB COVID Case Search and Active Case Finding (ACF), the notification trend improved in May 2020. The notifications of TB cases decreased significantly due to the present COVID-19 pandemic, which has consequences for the disease's stealthy spread throughout homes and communities. However, the situation may be better with an integrated strategy for managing TB-COVID cases.

When Breathing Becomes a Challenge: A Case of Congenital Myasthenia Gravis in an Indian Neonate With a DOK-7 Gene Mutation.

A rare neuromuscular condition known as congenital myasthenia gravis (CMG) affects some people from birth or very soon after. It results in fatigue and muscle weakness because of genetic abnormalities that interfere with the neuromuscular junction's ability to function, where the nerves and muscles connect. Even among those who have the same genetic mutation, the severity of CMG symptoms might differ considerably. The most typical signs of CMG include eyelid drooping, breathing issues, muscle weakness and weariness, and difficulties swallowing. Clinical examinations, neurophysiologic tests, and genetic analyses are frequently combined to make the diagnosis of CMG. Although there is no known treatment for CMG, many patients may control their symptoms and lead relatively normal lives with the right care. A newborn with CMG due to a DOK-7 gene mutation is described in this article, along with its very early onset. The DOK-7 mutation is a rare variant in the Indian population that causes CMG and usually manifests as 'limb girdle' weakness. However, due to muscle weakness, the neonate in this case developed severe respiratory distress and later died despite rigorous life-saving measures.

A Systematic Review of the Effects of Smoking on the Cardiovascular System and General Health.

The main risk factor for atherosclerotic cardiovascular disease is smoking. Nicotine and carbon monoxide are two dangerous substances that are found in cigarette smoke. The increased heart rate can have an almost instantaneous impact on the heart and blood vessels. Smoking is well known to cause oxidative stress, endanger the lining of the arteries, and accelerate the accumulation of fatty plaque in the blood vessels. It raises the danger of sudden thrombotic events, inflammatory alterations, and low-density lipoprotein oxidation. The smoke's carbon monoxide decreases the blood's capacity to deliver oxygen, adding to the heart's stress. Notably, these risks increase when diabetes, hypertension, high cholesterol, and glucose intolerance are present. It has a detrimental effect on peripheral blood vessels, raising the possibility of thromboangiitis obliterans. Stroke risk is known to be increased by smoking. As compared to those who continue to smoke, those who give up smoking have a much longer life expectancy. Chronic cigarette smoking has been shown to affect the macrophages' ability to remove cholesterol. Abstinence from smoking enhances the function of high-density lipoproteins and cholesterol efflux, lowering the risk of plaque buildup. In this review, we present the most recent information regarding the causal relationship between smoking and cardiovascular health as well as the long-term advantages of quitting.

A Case of Extraskeletal Ewing Sarcoma Treated With Wide Local Excision With Latissimus Dorsi Flap and Systemic Therapy.

Extraskeletal Ewing sarcoma (EES) is a rare tumor of the soft tissue that looks the same as skeletal Ewing sarcoma (ES). A male in his 50s was diagnosed with extraskeletal Ewing sarcoma (EES) of the right shoulder, which had infiltrated the muscles around the shoulder joints. Although uncommon, all members of the ES family of tumors, including EES, were treated following the same general protocol for sarcoma tumors. Due to the significant tumor size in this patient and local invasion, wide local excision and a latissimus dorsi flap were required. This case highlighted the management of EES, including the surgical removal of the mass on the right shoulder, followed by chemotherapy, which led to a successful outcome.

A Rare Case of Polymyositis and Systemic Sclerosis Overlap Syndrome: Diagnosis and Treatment.

Diffuse scleroderma is a kind of scleroderma in which the immune system malfunctions, leading to excessive production of collagen in the skin and a variety of organ abnormalities. Based on previously recognized criteria, overlap syndrome is a disorder in which two or more medical illnesses are documented in a single patient. These syndromes are significantly more prevalent in illnesses with mixed connective tissue. In this case report, we present a patient with overlapping systemic sclerosis and polymyositis symptoms. The treatment and diagnosis of this extremely uncommon condition are discussed in further detail.

A Systematic Review of Neurological Complications in Pregnant Women With COVID-19.

Coronavirus disease 2019 (COVID-19), which is caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has killed millions of people around the world so far and has turned into a disaster for people and healthcare systems. Neurological problems are often seen in people with COVID-19 in the general population, but it is unclear how common they are in pregnant women. This study provides a summary of studies on pregnant women with proven SARS-CoV-2 infection and a particular neurologic diagnosis from different parts of the world. After applying the inclusion and exclusion criteria, a total of 15 papers were assessed to create this review article. Based on our findings, the peripheral and central nervous systems were both equally impacted: Guillain-Barré syndrome (GBS, n=1), bifacial weakness, paresthesia, and vestibulocochlear neuritis (n=1), eclampsia types (n=2), and neurological disease (n=2); case reports, retrospective studies, editorials, and prospective observational studies were included. The median gestational age was 34 (30-36.5) weeks, and the median maternal age was 32.5 (25-35) years. Given the number of reports of neurologic problems associated with COVID-19 in the general community, our findings might be overstated, and we chose the ones that fit our criteria. We hope that this review helps in the early detection and management of neurological diseases during pregnancy.

Septic Cavernous Sinus Thrombosis in a Young Male Presenting With Pneumothorax Secondary to Septic Pulmonary Emboli: A Case Report.

Septic pulmonary embolism (SPE) is a rare complication that happens when infected thrombi from the original site of infection break off and travel to the pulmonary blood vessels, causing an infarction or an abscess. Cases were reported on SPE, with tricuspid or pulmonary valve endocarditis being the most common primary site, especially in intravenous drug abusers. There are, however, very few reports of SPE brought on by septic cavernous sinus thrombosis (CST). Here, we describe the case of an 18-year-old male who had a pustule on his left eyelid, after which he developed fever, spontaneous swelling of his left eye, followed by his right eye, along with bilateral proptosis and diplopia, and new-onset dyspnea. Auscultation revealed decreased breath sounds in the left lung fields. Magnetic resonance imaging (MRI) revealed cavernous sinus thrombosis. Blood cultures isolated Staphylococcus aureus species. High-resolution computed tomography (HRCT) revealed a left-sided pneumothorax with minimal pleural effusion and multiple nodules scattered among both lungs, suggesting septic pulmonary emboli. We report this case to convey how a minor lesion, that is, an eyelid pustule (stye), can get complicated and set off a spiral of events that takes an unexpected tangent, challenging physicians and necessitating a rigorous approach.

Correction: A Case of Megaspleen With Micrographism.

[This corrects the article DOI: 10.7759/cureus.29270.].

A Rare Case of Lower Limb Sarcoma With BCOR-CCNB3 Mutation: Diagnosis and Treatment.

In the past, BCOR-CCNB3 sarcoma was believed to be comparable to Ewing's sarcoma; however, current research has proven that it is, in reality, a distinct type of the illness, now classified as a distinct entity under undifferentiated round cell sarcomas. This tumour most frequently affects teenagers and young adults, and it is more prevalent in men. It can form in both bone and soft tissue, and it appears most frequently in the pelvis, lower extremities, and paraspinal region. Here, we describe a case of a soft tissue tumour in the proximal posterior portion of the right thigh of a 12-year-old male that was subsequently shown to be a BCOR-CCNB3 fusion using genetic analysis.

De Barsy Syndrome: A Case Report of a Rare Genetic Disorder.

De Barsy syndrome (DBS) is an exceedingly rare autosomal recessively inherited genetic disorder that manifests as premature aging with progeroid features. Typically, the skin loses its elasticity, causing laxity, wrinkling, and sagging. Other characteristics include ophthalmological, orthopedic, and neurological abnormalities. As of 2011, only 27 DBS cases had been recorded. This paper reports the case of a two-day-old female infant who was referred to the pediatrics department with complaints of lax skin, a progeroid appearance, a short stature, hazy corneas, and bilateral claw-like hands with thin overlapping fingers. She also had features of pectus excavatum and visible veins over her chest and abdomen. There was a history of third-degree consanguineous parents in this patient. This patient was diagnosed with De Barsy syndrome due to findings on the Verhoeff Van Gieson staining, which demonstrated a marked decrease in elastic tissue fibers. Palliative care was recommended for this infant. We report this case considering its extreme rarity.

Correlation of FGF-23 With Biochemical Markers and Bone Density in Chronic Kidney Disease-Bone Mineral Density Disorder.

Aim The purpose of this study was to determine the relationship between biochemical markers such as serum calcium (Ca), phosphorus (P), intact parathyroid hormone (iPTH), 25(OH) vitamin D, and fibroblast growth factor 23 (FGF23) in our study group, as well as to correlate dual-energy X-ray absorptiometry (DEXA) findings with these biochemical markers. Methodology  An eligible group of 50 chronic hemodialysis (HD) patients, age 18 and older, who have undergone HD two times a week for at least six months participated in this retrospective cross-sectional study. We compared serum FGF23, intact parathyroid hormone (iPTH), 25(OH) vitamin D, calcium, phosphorus, and dual-energy X-ray absorptiometry scan showing bone mineral density disorder (BMD) around the femoral neck, distal radius, and lumbar spine. Human FGF23 Enzyme Linked Immuno Sorbent Assay (ELISA) Kit PicoKine® (Catalog # EK0759; Boster Biological Technology, Pleasanton, CA) was used in the optimum moisture content (OMC) lab to measure FGF23 levels. For the analysis of associations with various studied variables, the levels of FGF23 were split into two groups, which were high (group 1, FGF23 50 to 500 pg/ml), that is, up to 10 times the normal levels and extremely high (group 2, FGF23 > 500 pg/ml) FGF23 levels. All the tests were conducted for routine examination where the data obtained was analyzed in this research project.  Results The mean age of patients was 39.18 ±12.84 years, of whom 35 (70%) were males and 15 (30%) were females. For the entire cohort, serum PTH levels were consistently high, and vitamin D levels were low. FGF23 levels were high in the whole cohort. The average iPTH concentration was 304.20 ± 113.18 pg/ml, while the average 25(OH) vitamin D concentration was 19.68±7.49 ng/ml. The mean FGF23 levels were 1877.36±1378.67 pg./ml. The mean calcium value was 8.23±1.05 mg /dl and the mean phosphate of 6.56±2.28 mg /dl. In the whole cohort, FGF23 showed a negative correlation with vitamin D and a positive correlation with PTH, but not statistically significant. Extremely high FGF23 levels were associated with lower bone density compared to high FGF23 values. Considering that in the whole cohort of patients, only nine had high FGF-23 and the rest of 41 patients had extremely high FGF23, we could not ascertain differences in PTH, calcium, phosphorus, and 25(OH) vitamin D levels between the two groups. The average length of time on dialysis was eight months, and there was no link between FGF-23 levels and the length of time on dialysis. Conclusion Bone demineralization and biochemical abnormalities are a hallmark in chronic kidney disease (CKD) patients. Abnormalities in serum phosphate, parathyroid hormone, calcium, and 25(OH) vitamin D play critical roles in the development of BMD in CKD patients. With the discovery of FGF-23 as a biomarker that is increased early in CKD patients, new questions arise about the effects and actions of FGF-23 in controlling bone demineralization and other biochemical markers. Our study found no statistically significant correlation to suggest an effect of FGF-23 on these parameters. But the findings need to be looked at more in prospective, controlled research, especially to find out if therapies that successfully target FGF-23 can make a big difference in how people with CKD feel about their health.

Correction: A Rare Case of Polymyositis and Systemic Sclerosis Overlap Syndrome: Diagnosis and Treatment.

[This corrects the article DOI: 10.7759/cureus.36434.].

Multi-Drug Resistance Tuberculosis (MDR-TB) Challenges in India: A Review.

Tuberculosis (TB) is an increasing public health concern in India. The development of resistance to two of the most effective medications, rifampicin, and isoniazid, is the largest worldwide challenge in the management of TB. An epidemiological indicator used to evaluate the effectiveness of the TB management program is the initial medication resistance level. Our search for published papers in English using Medical Subject Heading phrases was conducted through PubMed, Google Scholar, and Scopus. We also looked through several official sources to learn the most recent information on multi-drug resistance in India. Multi-drug resistance tuberculosis is a significant risk to human health globally. Stigmatization or discrimination of those who have TB or who are impacted by it can make the disease more difficult to manage medically and socially, and it is ultimately responsible for missed opportunities for diagnosis and treatment, interruptions of care, and unsuccessful outcomes. Eliminating TB is complicated by stigma.

Impact of COVID-19 on Pregnancy and Maternal-Neonatal Outcomes: A Narrative Review.

The pandemic coronavirus disease (COVID-19) has caused an unprecedented worldwide health emergency. The pandemic increased the susceptibility of pregnant women to maternal and fetal complications. Elderly and patients with comorbidities were also at high risk during the pandemic times. Further evidence supports that COVID-19 is not only a respiratory infection but possibly affects other organ systems, including the placenta. The key objective of this review is to explore the literature on COVID-19-affected pregnancies and study the pandemic's impacts on maternal, perinatal, and neonatal outcomes. We used Google Scholar and PubMed (Medline) for relevant literature searches. The clinical manifestations in pregnant women, fetus outcome, vertical transmission, and early and late pregnancy impacts are combined in database studies. Women should receive special attention for COVID even though most of the COVID-19-positive pregnant women had no symptoms or had minor ones. It was found that most pregnant women with COVID-19 had mild and few symptoms and that the effect on the fetus was insignificant. However, in some women, miscarriage and fetal growth retardation were seen as a consequence of the infection.

Intracranial Tuberculoma in a Pregnant Lady: A Hitherto Unknown Case and a Successful Outcome.

Central nervous system tuberculosis (CNS-TB) is rarely suspected in pregnancy because its clinical presentation may masquerade other common conditions in pregnancy, such as eclampsia. In high tuberculosis endemic areas, CNS-TB should be suspected with a high degree of suspicion among unimmunized and immunocompromised individuals. We hereby report a case of a 32-year-old pregnant woman conceived by in vitro fertilization due to tubal blockage causing infertility, probably due to chronic infection, who presented with a history of multiple seizure episodes without a history of similar complaints outside this pregnancy. Obstetric examination revealed a gravid uterus larger than the corresponding gestational age, and an antenatal scan confirmed dichorionic diamniotic twins with the first twin in the breech and the second twin in the cephalic presentation. Magnetic resonance imaging of the brain revealed multiple nodular lesions of varying sizes that were isointense on T1-weighted imaging and hypointense on T2-weighted imaging in multiple regions of the brain, which suggest tuberculomas. A preterm cesarean section was performed at 31 weeks gestational age due to preterm rupture of membranes. We report this case to enlighten the physicians in diagnosing seizures causing intracranial tuberculoma in pregnant women and utilizing the role of imaging in diagnosis.

Stroke as a Paraneoplastic Manifestation of Ovarian Cancer: A Case Report.

People with gynecologic neoplasms have the highest risk of having an ischemic stroke. A 76-year-old woman came into the stroke unit of our hospital complaining of anosmia and acutely developing dysarthria. She was ultimately determined to have ovarian cancer after extensive testing. Ovarian carcinoma is one of the neoplasms that cause ischemic stroke and is most commonly documented in case studies. Identifying the underlying neoplastic condition in female ischemic stroke patients who are otherwise "healthy" is crucial as an early surgical intervention on cancer offers therapeutic treatment for both malignancy and thromboembolism.