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Cureus May 2024Fabry disease (FD) is a lysosomal storage disease caused by a deficit of α-galactosidase A (GAL). Recently, plasma globotriaosylsphingosine (lyso-Gb3), a pathogenic...
Potential Usefulness of Lifetime Globotriaosylsphingosine Exposure at Diagnosis and Baseline Modified Disease Severity Score in Early-Diagnosed Patients With Fabry Disease.
BACKGROUND
Fabry disease (FD) is a lysosomal storage disease caused by a deficit of α-galactosidase A (GAL). Recently, plasma globotriaosylsphingosine (lyso-Gb3), a pathogenic analog of a substrate of GAL, has been suggested as a potential biomarker for FD, and disease severity scores, such as the Mainz Severity Score Index (MSSI), the Disease Severity Scoring System (DS3), and FASTEX (FAbry STabilization indEX), are useful tools for evaluating the severity of signs and symptoms in symptomatic FD patients. However, a more useful method of evaluating disease severity in early-diagnosed FD patients such as children, adult females, and asymptomatic patients is needed. Here, we proposed modified MSSI and DS3 scores to which we added phenotype, urinary mulberry bodies, and history of past pain attacks and examined the clinical usefulness of lyso-Gb3 and modified scores for early-diagnosed FD patients.
RESULT
In 13 early-diagnosed FD patients, we developed modified MSSI and DS3 scores and examined the correlation of lifetime lyso-Gb3 exposure at diagnosis with the conventional or modified scores. Lifetime lyso-Gb3 exposure was positively correlated only with the modified DS3 score. Additionally, we examined the long-term changes in plasma lyso-Gb3 concentration and in conventional MSSI, DS3, and FASTEX. In males, plasma lyso-Gb3 concentration decreased more rapidly than in females. In all patients, the severity scores were mild and remained nearly stable throughout the follow-up period.
CONCLUSION
Our data suggest that lifetime lyso-Gb3 exposure and the modified DS3 score are useful in early-diagnosed patients.
PubMed: 38947680
DOI: 10.7759/cureus.61380 -
Cureus May 2024Coronary arteriovenous fistulas (CAVFs) are congenital or acquired communications between the coronary arteries and coronary venous system, and they can also include...
Coronary arteriovenous fistulas (CAVFs) are congenital or acquired communications between the coronary arteries and coronary venous system, and they can also include other cardiac structures or vasculature. We discuss a case of a large fistula between the left main coronary artery and the right atrium in a geriatric patient with a history of gastrointestinal arteriovenous malformations (AVM). The occurrence of CAVFs, an uncommon cardiac irregularity, is particularly infrequent among older adults. Typically, it is discovered by chance when investigating symptoms such as shortness of breath or chest pain, where coronary angiography is necessary to determine the most effective treatment strategy. This case highlights the possible utility of evaluating CAVFs in patients with a history of gastrointestinal AVM who similarly present with clinical symptoms of high-output heart failure. Once identified, this could simplify the treatment approach and improve communication between healthcare providers to minimize the risk of harm to the patient.
PubMed: 38947675
DOI: 10.7759/cureus.61320 -
Cureus May 2024Rodenticides are easily available in the market and suicidal attempts by ingesting such poisonous products are commonly reported in rural India. We aimed to analyze...
Rodenticides are easily available in the market and suicidal attempts by ingesting such poisonous products are commonly reported in rural India. We aimed to analyze predictive factors, biological markers, and treatment outcomes among patients who ingested rodenticides (yellow phosphorus) with the brand name, Rattol. Here, we present three such cases who were admitted to a tertiary care hospital. We recorded socio-demographic characteristics, probable predictive factors, and serial charting biological markers. Conventional treatment was given to these cases. All cases were young women (age range: 17-30 years) from rural areas, two were married and one was unmarried. The approximate quantity of ingestion was 20, 10, and 5 grams, respectively. The time lag between the ingestion and sought first health care was 6 hours, 18 hours, and 1 hour, respectively. Major symptoms were vomiting, abdominal pain, and headache. Biological markers, including total bilirubin, alanine aminotransferase, aspartate aminotransferase, creatinine, prothrombin time, international normalized ratio, and model for end-stage liver disease (MELD) score were statistically significant. Two women had toxic hepatitis and acute liver failure and one did not have any organ damage. All of them were recovered within 17 days of mean hospital stay. A lethal dosage of rodenticides and delayed presentation to the hospital can prompt acute liver failure and severe ailment. Creating awareness, promoting mental health and suicide prevention, and framing proper guidelines for treatment will reduce morbidity and mortality.
PubMed: 38947661
DOI: 10.7759/cureus.61416 -
Cureus May 2024Axial spondyloarthritis (SpA) is a chronic inflammatory condition predominantly affecting the sacroiliac joints and spine, typically presenting before the age of 45...
Axial spondyloarthritis (SpA) is a chronic inflammatory condition predominantly affecting the sacroiliac joints and spine, typically presenting before the age of 45 years with inflammatory back pain. However, diagnostic challenges arise when atypical features and negative autoimmune markers obscure the clinical picture. We present a case of a male in his 40s with no significant medical history, presenting with a three-month history of inflammatory back pain. Despite negative human leukocyte antigen B27 (HLA-B27) status, clinical examination, including positive findings on the FABER (flexion, abduction, and external rotation) test and exaggerated muscle tenderness, raised suspicion of axial SpA. An MRI of the pelvis confirmed bilateral symmetrical sacroiliitis, supporting the diagnosis. Unexpectedly, further investigations revealed a very low vitamin D level, normal calcium levels, and elevated parathyroid hormone (PTH), suggesting secondary hyperparathyroidism. A subsequent PET scan disclosed increased uptake posterior to the right lobe of the thyroid, prompting consideration of secondary hyperparathyroidism due to severe vitamin D deficiency. Treatment with vitamin D supplementation and nonsteroidal anti-inflammatory drugs yielded remarkable improvement in symptoms, with normal repeat blood investigations post-treatment. This case underscores the importance of a comprehensive diagnostic approach in patients with inflammatory back pain, especially when classical markers such as HLA-B27 are negative. It highlights the potential interplay between axial SpA and secondary hyperparathyroidism, emphasizing the need for vigilance and interdisciplinary collaboration in clinical practice.
PubMed: 38947656
DOI: 10.7759/cureus.61441 -
Cureus May 2024Blunt abdominal trauma patients who have had prior bariatric procedures may present a diagnostic and therapeutic challenge. The single anastomosis duodenal-ileal bypass...
Blunt abdominal trauma patients who have had prior bariatric procedures may present a diagnostic and therapeutic challenge. The single anastomosis duodenal-ileal bypass with sleeve (SADI-S) is a modified duodenal switch procedure that is relatively uncommon. This case report describes a patient who previously underwent a SADI-S for the management of obesity and subsequently sustained a seat belt injury in a motor vehicle collision resulting in a laceration of the efferent loop. The patient presented with symptoms of acute abdominal pain and was diagnosed through imaging studies. Prompt surgical intervention was performed with resection and primary anastomosis of the damaged section of the jejunum, and repair of a large mesenteric laceration. We discuss the importance of early recognition and intraoperative decision-making in the case of this patient concerning her SADI-S.
PubMed: 38947652
DOI: 10.7759/cureus.61388 -
Cureus May 2024Rapunzel syndrome, a rare yet complex condition, poses diagnostic and therapeutic challenges. Trichobezoars, stemming from trichotillomania and pica, manifest as hair... (Review)
Review
Rapunzel syndrome, a rare yet complex condition, poses diagnostic and therapeutic challenges. Trichobezoars, stemming from trichotillomania and pica, manifest as hair conglomerates within the gastrointestinal tract, often necessitating surgical intervention. This review synthesizes literature on symptomatology, diagnostic methods, and treatment modalities, emphasizing the multidisciplinary approach essential for effective management. Psychological interventions, including cognitive-behavioral therapy, complement surgical measures in addressing underlying psychiatric factors. Diagnostic imaging, endoscopic examinations, and histopathological analysis aid in an accurate diagnosis. Enhanced awareness among healthcare providers regarding the association between psychological disorders and gastrointestinal complications is crucial for timely intervention and improved outcomes in individuals with Rapunzel syndrome.
PubMed: 38947636
DOI: 10.7759/cureus.61294 -
Cureus May 2024Multiple fractures are frequently encountered in adults following road traffic accidents. A 32-year-old male presented with multiple fractures in his right lower...
Multiple fractures are frequently encountered in adults following road traffic accidents. A 32-year-old male presented with multiple fractures in his right lower extremity, including a femoral shaft fracture, distal third fractures of the tibia and fibula, as well as a calcaneal fracture. The patient provided a history indicative of a road traffic accident. X-rays were performed on both hip joints, both knee joints, and the ankle joints. Treatment involved open reduction and internal fixation (ORIF) with interlocking nailing for the femur, tibia, and fibula, alongside ORIF with plating using a screw-out set (SOS) and cannulated cancellous (CC) screw fixation for the calcaneal fracture. Additionally, the Ilizarov procedure was conducted following debridement over the right foot. Post-surgery, the patient experienced primary symptoms of hip joint pain and restricted hip joint movement. Physiotherapy was initiated to address these issues. Evaluation of outcome measures indicated a reduction in joint pain, significant enhancement in joint mobility, and an increase in muscle strength.
PubMed: 38947633
DOI: 10.7759/cureus.61427 -
Cureus May 2024Coronary artery anomalies may place patients at risk for various adverse events. We present a case of a 62-year-old male with a two-year history of intermittent chest...
Coronary artery anomalies may place patients at risk for various adverse events. We present a case of a 62-year-old male with a two-year history of intermittent chest pain. A computed tomography coronary angiogram revealed a rare finding of an anomalous right coronary artery (ARCA) originating from the left ascending aorta, with high-risk features. This case highlights the complexities in diagnosing and managing ARCA, underscoring the importance of individualized care and careful consideration of invasive intervention risks versus potential benefits.
PubMed: 38947621
DOI: 10.7759/cureus.61375 -
Cureus May 2024Degenerative changes of the lumbar intervertebral disc are the most significant causes of enduring lower back pain. The possibility of the diagnosis is limited in people... (Review)
Review
Degenerative changes of the lumbar intervertebral disc are the most significant causes of enduring lower back pain. The possibility of the diagnosis is limited in people with this low back pain. Therefore, it is essential to identify the relevant back pain subgroups. The paraspinal muscles, that is, the muscles that attach to the spine, are necessary for the proper functioning of the spine and the body; insufficiency can result in back pain. Lower back pain disorders are strongly associated with altered function or structure of these paraspinal muscles, especially fibrosis and fatty infiltration. Modic changes are the bone marrow changes of the end plate in the vertebral body seen on MRI. These are strongly related to degeneration of the disc and are common in individuals with back pain symptoms. Articles were selected from Google Scholar using the terms 'Modic changes,' 'end plate changes,' 'paraspinal muscles,' and 'lower back pain. ' This article compiled different studies aiming to enhance the comprehension of biochemical processes resulting in the development of lumbar pain. Search using the keywords 'Modic changes,'' end plate changes lower back pain,' 'paraspinal muscles lower back pain,' and 'Modic changes lower back pain' on Google Scholar yielded 33000, 41000, 49400, and 17,800 results, and 958, 118, 890 and 560 results on Pubmed respectively.
PubMed: 38947594
DOI: 10.7759/cureus.61319 -
Cureus May 2024In this case report, the diagnostic challenge and emergency management of a Bochdalek hernia in adults in Mexico are outlined. This case report can help the medical...
In this case report, the diagnostic challenge and emergency management of a Bochdalek hernia in adults in Mexico are outlined. This case report can help the medical community to consider the clinical presentation in adults and the importance of early diagnosis and management. We present a 57-year-old female patient with a history of arterial hypertension who, following a bout of abdominal pain, was diagnosed with a Bochdalek hernia. Following emergency surgery, there was an increase in intra-abdominal pressure, which was continuously monitored due to the possibility of compartment syndrome, potentially necessitating a second emergency surgery.
PubMed: 38947577
DOI: 10.7759/cureus.61422