International Medical Case Reports Journal最新文献

Purpose: To report a case of Calcific Band Keratopathy (CBK) treated successfully with transepithelial Phototherapeutic keratectomy (PTK) combined with customized Photorefractive Keratectomy (PRK).

Methods: One case report.

Results: A 63-year-old man presented to our clinic with decreased visual acuity and ocular discomfort in both eyes. Clinical examination revealed a horizontal gray-whitish band across the central cornea in both eyes, supporting the diagnosis of CBK. Initially, an EDTA chelating procedure was attempted, but it had no effect on the deeper calcium deposits and on the irregular corneal morphology. In both eyes, a topography-guided trans-epithelial PRK with PTK was performed. Following PRK surface ablation, PTK was used to smooth the ablated area using 1% hydroxymethylcellulose as masking agent. The procedure was completed applying 0.02% Mitomycin C. At the 1-month follow-up, both eyes corneal opacities were resolved, and the LE visual acuity had improved to 20/63 and the RE to 20/20, which was maintained at the 3-, 6-, and 12-months follow-up. Furthermore, there was an improvement in spherical equivalent and corneal morphological irregularity index.

Conclusion: CBK may be successfully treated using a combined topography-guided trans-epithelial PRK and PTK.

Non-steroidal anti-inflammatory drugs (NSAIDs) are widely administered in all age groups due to their effectiveness in reducing fever, relieving pain, and reducing inflammation. However, they have also been identified as the second most common cause of drug-induced hypersensitivity reactions, after beta-lactam antibiotics. Adverse reactions to NSAIDs can range from expected pharmacological side effects such as gastritis to severe allergies, including anaphylaxis. It is important to distinguish true hypersensitivity reactions from other side effects to ensure proper management and patient safety. Four patients aged 35-60 years were treated with NSAIDs for pain management and subsequently developed hypersensitivity reactions to NSAIDs such as ketorolac, ketoprofen, and diclofenac sodium in the type of allergic reactions such as NSAIDs-induced urticaria/angioedema (NIUA). This case series provides valuable insights into the clinical presentations and potential mechanisms of NSAID hypersensitivity in the documented cases in one of the hospitals in Indonesia. It highlights important areas for future investigation, including the need for larger, controlled studies to better understand incidence, risk factors, and generalizability to broader populations.

Gynecomastia is an enlargement of the breasts in men, which is usually benign but can also manifest as a result of malignancies, and can be either unilateral or bilateral. Pseudogynecomastia is male breast enlargement due to excessive fat, while true gynecomastia is a proliferation of glandular tissue. Gynecomastia is common in infants, adolescents, and elderly men, with the most common cause is related to hormonal changes associated with aging. Medical intervention is usually required for true gynecomastia that has lasted more than a year. Here, we report a case of a 33-year-old Chinese-Indonesian decent with enlarged breasts. The patient reported frequent consumption of homemade soybean milk (1/2 to 1 liter daily) accompanied by bland chicken during his body-building regimen. The patient had discontinued the regimen and the diet for 2 years prior to the initial visit. During physical examination, both breasts were enlarged and had firm nodule, mobile, and attached at the sub-central areola mammae with a diameter of 8 cm. The patient was then diagnosed with true gynecomastia Simon degree 2A and Geschikter and Copeland type 3. As the gynecomastia had persisted longer than a year, a dermatological intervention was planned. Ultrasound-assisted liposuction was performed with a solid probe and glandular excision. Fat tissue was obtained, 130 mL from the right breast and 120 mL from the left breast. A dense 2.5 cm × 2.5 cm × 2 cm glandular tissue was obtained from both breasts. The patient was satisfied with the surgery outcome.

Purpose: We report a case of Eales disease in Inuit and reflect on advances in telemedicine and treatment of retinal disease since the first report of Eales' disease in Greenlandic Inuit was published.

Patients and methods: A 41-year-old Inuit female complaining of blurred vision was referred to our eye department. There had been no sign of diabetic retinopathy during diabetic eye screening and the patient had been treated for tuberculosis in 2010. Telemedical assessment was suspicious for vitritis or vitreous hemorrhage in the right eye, and the patient was flown from Greenland to Denmark, where examination revealed mild vitritis in the right eye, vitreous hemorrhage in the left eye and retinal neovascularization in both eyes. Fundus fluorescein angiography showed vessel leakage and areas of retinal non-perfusion. There was left epiretinal membrane with retinal thickening on macular optical coherence tomography.

Results: Based on the patient's clinical findings and history of tuberculosis infection, a diagnosis of Eales' disease was made. The left eye was treated with pars plana vitrectomy with epiretinal membrane peeling, endodiathermy and endolaser. The right eye was treated in outpatients with sectoral laser photocoagulation. At seven weeks' follow-up, the visual acuity had improved from 6/12 to 6/6 (right eye) and from 6/36 to 6/7.5 (left eye).

Conclusion: The prevalence of tuberculosis in Greenland is very high and it is recommended that clinicians remain alert to the possibility of Eales' disease, as beneficial visual outcomes are associated with prompt diagnosis and treatment. Telemedicine allows more frequent follow-up of Greenlander patients.

Background: Cartilage defects in the knee joint are areas of damage and wear to the cartilage that normally covers and protects the ends of bones. These defects occur due to sudden injuries, such as trauma or sports accidents, or due to chronic conditions, such as osteoarthritis. Cartilage acts as a shock absorber (cushion absorber), reducing the impact of mechanical stress on the joints, which helps prevent bone damage during movement. Cartilage also serves as a gliding surface for the joints, allowing them to move smoothly, which minimizes friction between the bones. Its damage can cause pain, swelling, and decreased joint function. Treatment of localized cartilage defects is important to prevent further damage to the joint and maintain good knee function. Identifying problems early and treating them correctly can help improve outcomes and reduce the likelihood of more serious joint problems.

Case description: We describe the case of a 46-year-old man with a localized cartilage defect in the knee joint who was followed for one year after the application of heparin-conjugated fibrin hydrogel for the treatment. We watched the patient for a year, doing functional tests, checking MRI results after the procedure, and watching for side effects.

Results: This case demonstrates that implantation of hydrogel successfully engraft and lead to remodeling of hyaline-like cartilage, thereby improving the condition of damaged knee cartilage. Comparison of MRI images before and 1 year after surgery showed the effectiveness of this technology.

Vasa previa is a condition where unprotected fetal vessels, neither by placenta nor umbilical cord, lie within the membranes over the internal cervical ostium and beneath the presenting part of the fetus. Due to this condition, the membranous vessels pose a higher risk of being compressed or ruptures and could lead to fetal demise, exsanguination, or even fetal death. In this case report, we reported a case of a 36-year-old woman, G3P2A0, at term gestation and oblique lie. Early prenatal diagnosis using transvaginal ultrasound could increase the survival rate of the fetus if followed by sufficient management after diagnosis. Caesarean birth is the safest mode of delivery even before the clinical signs or onset of labor occur.

Primary amyloidosis (AL type) is a systemic disease that can lead to structural and functional damage to organs and tissues such as the kidney, heart and liver with non-specific symptoms. Most of the affected patients develop thyroid infiltration and thus diffuse enlargement of the thyroid gland, while cases leading to hypothyroidism are exceedingly rare. Some researchers have analyzed thyroid function in newly diagnosed patients with AL amyloidosis, and found that the incidence of overt hypothyroidism is only 7%. In this case, we describe a 66-year-old female patient who visited the nephrology department due to lower limb edema for 2 months and numbness of the extremities for more than 2 years. Examination revealed massive proteinuria and hypoproteinemia, and a needle biopsy of the kidney revealed amyloid deposition. The patient was also found to have hypothyroidism and diffuse enlargement of the thyroid gland. We evaluated the etiology of thyroid disease from the pathogenesis of the disease after consulting an endocrinologist. The result of the thyroid fine needle puncture and pathological examination showed thyroid amyloidosis. The patient received levothyroxine sodium tablets as replacement therapy and received chemotherapy in the hematology department. At the same time, we monitored the improvement in thyroid function and reduction in thyroid volume.

Background: Acute ischemic stroke (AIS) is usually caused by acute occlusion of the cerebral artery. Bilateral anterior cerebral arteries (ACAs) originating from the anterior communicating branch of the same internal carotid artery are a rare anatomical variation in clinical practice. Mechanical thrombectomy (MT) of simultaneous acute occlusion of the bilateral ACAs with this variation has rarely been reported.

Case presentation: A 49-year-old man was referred for sudden onset of right-side weakness and aphasia for almost 55 min. AIS was considered after no bleeding was observed on emergency head computed tomography. Digital subtraction angiography was performed, and bilateral ACAs were found to originate from the anterior communicating branch of the left internal carotid artery and were occluded in their A2 segment. After immediate emergency MT with a stent retriever, the symptoms obviously improved.

Conclusion: Simultaneous acute occlusion of the bilateral ACAs originating from the anterior communicating branch of the same internal carotid artery is rare in clinical practice. For such patients, MT with a stent retriever is feasible even if there is a risk of thrombectomy escape, and a stent retriever with aspiration or a direct aspiration technique may be more appropriate.

Purpose: This study aims to describe a newly identified clinical finding of central corneal subepithelial haze following keratoplasty (both penetrating and lamellar) with interrupted sutures, and to explore its causes and management strategies.

Methods: Case series.

Results: The study included 7 males and 3 females, with an average age of 24.89 ± 6.57 years. Eight eyes underwent lamellar keratoplasty, and two underwent penetrating keratoplasty. Subepithelial haze appeared between 2 and 5 months postoperatively, associated with central corneal steepening. The mean BCVA improved from 0.88 ± 0.50 logMAR preoperatively to 0.51 ± 0.20 at haze documentation and 0.50 ± 0.16 after haze resolution. Selective suture removal resulted in haze resolution in 9 eyes, while delayed intervention in one case led to permanent scarring.

Conclusion: Central corneal subepithelial haze following keratoplasty with interrupted sutures is linked to suture tension and central corneal steepening. Early suture adjustment or removal is essential to prevent permanent scarring. Further studies are needed to better understand this complication's pathophysiology.

Introduction: Levocarnitine is essential for brain functioning and fatty acid metabolism and stems largely from dietary sources. The Epsilon-Trimethyllysine Hydroxylase (TMLHE) gene encodes the enzyme N-Trimethyllysine hydroxylase (TMLH) which catalyses the first step in the biosynthesis of carnitine. Lack of TMLH enzyme activity is associated with developmental delay and autistic behaviours described as X-linked recessive autism, type 6 (OMIM#300872).

Patient and methods: Here, an institutionalized adult male patient with intellectual disability, autism, and challenging behaviours is presented in whom genetic analysis disclosed a novel pathogenic variant in the TMLHE gene. Extensive somatic, neurological, psychiatric, and neuropsychological investigations were performed next to examination of hematological and biochemical parameters including plasma carnitine status. Also, Whole Exome Sequencing (WES) and Next-Generation Metabolic Screening (NGMS) were performed.

Results: Moderate intellectual disability along with obsessive and aggressive behaviour in the context of autism spectrum disorders was established as well as symptoms from the catatonic spectrum. With WES, a novel variant in the TMHLE gene was identified and using NGMS, increased concentration of trimethyllysine and decreased concentration of γ-butyrobetaine were found resulting in a significantly decreased BB/TML ratio, confirming the pathogenicity of this variant.

Conclusion: X-linked autism type 6 is characterized by moderate intellectual disability and symptoms from the autism spectrum in the absence of any dysmorphisms. To prevent regressive autistic episodes in young children, it is highly recommended to consider next-generation sequencing techniques as the first step in the differential diagnostic process of autism.