Myositis is a clinical condition with a wide spectrum of clinical presentation. We present the case of 33 years old woman with acute history of pain and swelling of both legs. Investigations confirmed acute bilateral myositis of both calf muscles. She responded well to conservative management with full recovery. Benign acute myositis is more common in children and usually follows viral infection. Although our case may represent an adult form of benign acute childhood myositis, she had no history of preceding infections. Benign acute myositis is increasingly reported in adults. It appears to be self-limited with spontaneous full recovery. The diagnosis is largely based on clinical features. Therefore, clinicians should be aware of this type of myositis to avoid unnecessary invasive investigations.

Interrupted descending aorta (IDA) is an extremely rare congenital heart defect characterized by a complete loss of connection between the ascending and descending aorta. This condition is typically diagnosed in infancy or early childhood, but there have been very few cases reported in adulthood. Here, we present a unique case of an IDA in a 16-year-old patient with concomitant aortic stenosis (AS) and bicuspid aortic valve (BAV), making it an extremely rare scenario. This case highlights the importance of early diagnosis and appropriate management in patients with an IDA, particularly when in association with other cardiovascular abnormalities.

BACKGROUND: The objective of this study was to investigate the clinical characteristics and genetic spectrum of adult-onset cone/cone-rod dystrophy (AOCD/AOCRD) in Korean individuals.
METHODS: This is a single-center, retrospective cross-sectional study. We analyzed 22 individuals with genetically confirmed cone dystrophy, with symptoms beginning after 30 years of age. All patients underwent comprehensive ophthalmic and electrophysiological examinations. Exome sequencing of 296 genes associated with inherited retinal disease was performed. The clinical features of patients with AOCD/AOCRD and the causative genes and variants detected by exome sequencing were analyzed.
RESULTS: The median age at the first visit was 52 years (range, 31-76 years), and the most common initial symptom was reduced visual acuity. In most cases, fundus photography showed a bull\'s eye pattern with foveal sparing, consistent with perifoveal photoreceptor loss on optical coherence tomography. We identified disease-causing variants in six genes: RP1, CRX, CDHR1, PROM1, CRB1, and GUCY2D. Pathogenic variants in RP1, CRX, and CDHR1 were identified in 77% of the AOCD/AOCRD cases, including p.Cys1399LeufsTer5, p.Arg1933Ter, and p.Ile2061SerfsTer12 in RP1; p.Ter300GlnextTer118 in CRX; and p.Glu201Lys in CDHR1. No characteristic imaging differences were observed for any of the causative genes. Most of the RP1-related AOCD/AOCRD cases showed a decreased amplitude only in the photopic electroretinogram (ERG), whereas CRX-related AOCD/AOCRD cases showed a slightly decreased amplitude in both the scotopic and photopic ERGs.
CONCLUSIONS: In case of visual impairment with bull\'s eye pattern of RPE atrophy recognized after the middle age, a comprehensive ophthalmic examination and genetic test should be considered, with the possibility of AOCD/AOCRD in East Asians.

The most common and challenging chief complaint in the emergency department is abdominal pain. Intussusception, although rare in adults, is an important etiology to consider. The diagnosis is often delayed because of the nonspecific symptoms, especially in adults. This case highlights a rare case of intussusception in a middle-aged male with a colonic lipoma as a leading point. Endo-loop was applied to the colonic lipoma, leading to the resolution of intussusception. Therefore, this can be an effective alternative to surgery in select cases.

Sacrococcygeal teratoma (SCT), one of the most common neoplastic tumors in newborns, is found very rarely in adults. These teratomas are germ cell tumours. Most of these tumors are benign and cystic in nature, with only 1-2% of them having a malignant transformation. Most of these tumors are benign and cystic in nature, with only 1-2% of them having malignant transformation. A higher incidence was seen in females. Typically, cystic teratomas are asymptomatic, and so the diagnosis was often made inadvertently during radiographic studies. The majority of treatment is complete surgical excision, and both open and laparoscopic procedures have been proven to be efficient. Histopathologic examination can confirm the diagnosis. We present this unusual instance of a 56-year-old female patient with a sacrococcygeal teratoma.

This abstract provides an overview of metachromatic leukodystrophy (MLD), an autosomal recessive disorder stemming from arylsulfatase A deficiency. MLD leads to cerebroside sulfate accumulation, causing central and peripheral demyelination. Clinical manifestations vary by age group: late-infantile (rapid progression), juvenile (slower progression), and adult-onset (psychiatric symptoms). A case study details a 23-year-old with progressive vision impairment, motor weakness, and cognitive changes. Examination and MRI findings led to suspicion of MLD, later confirmed by enzyme testing. Optic nerve involvement is emphasized, along with diagnostic criteria involving enzyme assays, imaging, and urinary sulfatide excretion tests. While no cure exists, symptomatic and supportive care, including hematopoietic stem cell transplantation, remains key in MLD management.

Asthma is a common pathology worldwide that occurs due to chronic inflammation of the respiratory airways. Persistent pulmonary inflammation leads to low-grade systemic inflammation, influencing blood vessels and triggering coronary artery disease (CAD) events. This review\'s objectives include discussing the susceptible population for CAD, the mechanism underlying CAD creation in asthma patients, the characteristics of asthma, and the influence of anti-asthmatic medications on CAD development. Adult-onset asthma is strongly linked to CAD and stroke. Future research may shed light on these disparities. Atherosclerosis and asthma are linked through both intrinsic and extrinsic pathways, with inflammation being the intrinsic pathway and hypoxia and tachyarrhythmia being the extrinsic pathways. The most probable mechanisms for increased coronary vasospastic angina (CVsA) incidence in asthmatic patients are vascular smooth muscle cell hypercontraction and endothelial dysfunction. Studies have shown a dose-response relationship between asthma control and myocardial infarction (MI) risk, with uncontrolled asthma at the highest risk. Impairment of ventilatory function is a distinct risk factor for lethal MI and cardiovascular death (CVD). The use of beta-2-agonists and chronic oral glucocorticoid therapy in severe asthmatics has been linked to increasing the risk for CAD. However, some studies have shown that the risk of MI among patients with active asthma is not related to the use of asthma medications. Further research is needed to determine the involvement of adult asthma features and their treatments in the development of CAD.

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Langerhans cell histiocytosis (LCH), earlier recognised as histiocytosis X, is a rare haematological illness involving infants and young children. LCH is caused by unrestrained stimulation and proliferation of usual antigen presenting cells, Langerhans cells (LCs) and the disease demonstrates extensive clinical and radiographic features involving multiple sites. Since the incidence is relatively low limited data is available regarding the epidemiology of LCH, with approximation of 2-5 cases per million populations per year. LCH has male predilection with jaws involved in 10-20% cases and only 1% of the cases affecting maxilla, masquerading as periodontal or periapical pathology. We report a case of 48-year-old female with LCH involving posterior maxilla. This is a unique presentation corresponding to age, gender, location and severity. Dental clinicians should be aware of this and consider it to be a part of their differential diagnosis pertaining to unresolved periodontal pathology as it mimics clinically and radiographically.