Clinical case of myocardial infarction with unspecified familial hypercholesterolemia

Familial hypercholesterolemia is a hereditary autosomal dominant disease characterized by a violation of cholesterol metabolism. This nosology was first described in the late 1930s by the Norwegian clinician Karl Moeller, he proposed the idea that hypercholesterolemia and tendon xanthomas are associated with cardiovascular diseases through the inheritance of a single gene. In 1964, two clinical phenotypes of familial hypercholesterolemia were discovered: heterozygous and homozygous, associated with an unfavorable prognosis. To date, it is known that the long-running process of accumulation of low-density lipoproteins in the intima of blood vessels may not have clinical symptoms for many years due to the developed system of collaterals and the absence of hemodynamically significant stenosis. However, without timely diagnosis and appropriate therapy, this condition inevitably leads to the development of a cardiovascular event. The article presents a clinical case demonstrating the development of myocardial infarction in a patient with a late diagnosis of this disease.

Case Report: Multicentric Reticulohistiocytosis Associated With Posterior Mediastinal Adenosquamous Carcinoma, Antinuclear Antibody Positivity and Lupus Anticoagulant Positivity

Multicentric reticulohistiocytosis (MRH) is a rare systemic disease of non-Langerhans cell histiocytosis. A number of studies in the literature have documented that it can coexist with malignancy or autoimmune disease, making it difficult to determine the most appropriate therapy. Here, we present a case study of MRH associated with posterior mediastinal adenosquamous carcinoma along with antinuclear antibody positivity and lupus anticoagulant positivity. The patient experienced 6 months of clinical benefit after surgical resection and chemoradiotherapy of the mediastinal malignancy. This case adds to the available literature on multicentric reticulohistiocytosis associated with different types of malignancy and provides supplementary clinical data on the coexistence of this syndrome with malignancy and immune system abnormalities. To the best of our knowledge, this is the first case study describing MRH accompanied by posterior mediastinal adenosquamous carcinoma and lupus anticoagulant positivity. The unknown aetiology and polymorphic clinical presentation of MRH warrants further investigation.

Gram stain to the rescue: a case report of cerebral phaeohyphomycosis by Cladophialophora bantiana in an immunocompetent 24-year-old

Background Fungal brain abscesses in immunocompetent patients are exceedingly rare. Cladophialophora bantiana is the most common cause of cerebral phaeohyphomycosis, a dematiaceous mold. Radiological presentation can mimic other disease states, with diagnosis through surgical aspiration and growth of melanized fungi in culture. Exposure is often unknown, with delayed presentation and diagnosis. Case presentation We present a case of cerebral phaeohyphomycosis in a 24-year-old with no underlying conditions or risk factors for disease. He developed upper respiratory symptoms, fevers, and headaches over the course of 2 months. On admission, he underwent brain MRI which demonstrated three parietotemporal rim-enhancing lesions. Stereotactic aspiration revealed a dematiaceous mold on staining and the patient was treated with liposomal amphotericin B, 5-flucytosine, and posaconazole prior to culture confirmation. He ultimately required surgical excision of the brain abscesses and prolonged course of antifungal therapy, with clinical improvement. Conclusions Culture remains the gold standard for diagnosis of infection. Distinct microbiologic findings can aid in identification and guide antimicrobial therapy. While little guidance exists on treatment, patients have had favorable outcomes with surgery and combination antifungal therapy. In improving awareness, clinicians may accurately diagnose disease and initiate appropriate therapy in a more timely manner.

NEURODEGENERATION AS AN EARLY SIGN OF DIABETIC RETINOPATHY

Diabetic retinopathy is major cause of visual impairment and blindness in diabetic patients worldwide. The concept of diabetic retinopathy as vascular disease has established into not only microvascular complication but also neurodegeneration problems. Neurodegeneration plays an important role in pathogenesis of diabetic retinopathy. In fact, neuroretinal changes in diabetes can take place even before vasculopathy can be clinically detected. This condition is marked by accelerated loss of neurons due to apoptosis, particularly in the inner retinal layer. The characteristic of neurodegeneration can be detected through retinal imaging and electrodiagnostics. This review is very crucial, because identifying the pathophysiology of diabetic neurodegeneration better, we may be able to provide interventions using the appropriate therapy. We may also be able to utilize these diagnostic tools for early detections of diabetic retinopathy, thus preventing blindness due to diabetes.

Properties and functions of TP/PD-ECGF — enzyme and angiogenic factor in norm and in neoplastic pathology

Thymidine phosphorylase is a protein which may has a dual action: it is a rate-limiting enzyme in thymidine metabolism and it is similar to the platelet – derived endothelial cell growth factor (PD/ECGF). The enzyme catalyzes the reversible reaction of phosphorolytic cleavage of thymidine to thymine and deoxyribose-1-phosphate. It has been found that TP has higher activity in tumor tissues. Also it is involved in a proliferative process in a wide variety of chronic inflammatory diseases. Increased expression of PD/ECGF in many tumors is associated with aggressive disease and/or poor prognosis. Its known that high TP activity is related to malignant angiogenesis and invasion. On the other hand, TP inhibits a hypoxia induced apoptotic pathway and enhances expression of various inflammatory cytokines and interferons. This apparent role of enzyme in tumor progression has prompted investigation a large number of TP inhibitors for applicability in chemotherapy backbone regimens. The enzymatic activity of PD/ECGF is being able to generate 5-fluorouracile from capecitabine and other precursors. Thus TP is identified as a prime target for developing novel anticancer therapies. The serum TP level in cancer patients provides useful prognostic information regarding both responses to chemotherapy and length of survival and should be used in planning appropriate therapy. TP could be suggested that control of individual enzyme activity in blood serum may be used as informative tool for monitoring of patients and treatment optimization.

Recurrent hydatid disease, a case report and literature review

Hydatid disease (HD) remains endemic in Australia, with estimated incidence highest in rural and indigenous populations. Its recurrence is defined by new active cysts arising after appropriate therapy, and affects anywhere between 2-25% of total cases. Available treatment options include surgical resection, percutaneous drainage, and chemotherapy. Interestingly, their individual contributions to long-term minimisation of recurrence are scarcely described in the literature. We present a unique case of a 27-year-old female with recurrent hepatic HD requiring repeat operations and long-term chemotherapy. Prevention and treatment of recurrent HD requires careful evaluation of a multitude of factors, including disease characteristics, patient attributes, physician expertise and availability of resources. Consistent long-term follow up is required to better ascertain the long-term efficacy of reported treatment modalities for preventing recurrence. Despite a growing body of research looking at treatment of HD, there remains a considerable amount of controversy regarding most effective approach for minimising and preventing its recurrence.

Kesan Terapi Al-Quran Terhadap Konflik Warga Emas: Satu Kajian Kes

The purpose of this study is to identify the real issues, causes and investigate the effective actions in helping the subject to move on. The subject experienced changes in behavior, emotions and thoughts after her eldest daughter had a stroke and unable to take care of herself. Now the subject has been abandoned by family members and the community of her residential area. She was considered an insane person as a result of her changes. This is qualitative study using Quranic therapy. Among the Al-Quran therapies that the subject undergoes are zikir munajat, recitation of Surah Yaasin and tahlil arwah. Subjects also read passages from surahs in the Qur'an such as Surah Al Baqarah by talaqi with the researcher. Psychodrama therapy was also administered. Findings showed that subjects acted positively when informed that authorities such as hospitals or the Social Welfare Department will take her to the care center for elderly and separated from being with her children. The subject’s aggressive level is more controlled after practising Quran and zikir munajat. The conclusion of the study found that the subject's level of thinking and emotions can be controlled and helped with appropriate therapy by an experienced therapist. Abstrak Tujuan kajian ini dijalankan adalah untuk mengesan isu sebenar yang dihadapi oleh subjek, mengenal punca dan seterusnya mengenal pasti tindakan yang berkesan dalam membantu subjek keluar dari persoalan yang sedang dihadapinya. Subjek dikatakan mengalami perubahan tingkahlaku, emosi dan fikiran selepas anak sulungnya diserang sakit stroke hingga tidak boleh mengurus diri. Kini subjek sudah diketepikan oleh ahli keluarga dan masyarakat kawasan perumahan. Beliau dianggap sebagai seorang yang tidak waras kesan perubahan tingkahlaku, pemikiran dan emosi yang ditunjukkan. Kajian ini adalah kajian kualitatif melalui pendekatan temubual. Lima sesi kaunseling menggunakan terapi Al-Quran telah dijalankan terhadap subjek. Antara terapi Al-Quran yang subjek jalani ialah zikir munajat, bacaan Surah Yaasin serta tahlil arwah. Subjek juga membaca petikan surah dalam Al-Quran seperti Surah Al Baqarah secara talaqi dengan pengkaji. Terapi psikodrama juga dijalankan kepada subjek kajian. Dapatan kajian menunjukkan subjek lebih kerap bertindak positif jika dimaklumkan pihak berkuasa seperti hospital atau Jabatan Kebajikan Masyarakat (JKM) akan bertindak membawanya ke pusat jagaan orang tua tanpa bersama dengan anak-anak OKU. Tahap agresif subjek juga semakin terkawal apabila dipandu membacakan ayat-ayat suci Al Quran dan zikir munajat. Kesimpulan kajian mendapati tahap pemikiran serta emosi subjek masih waras, boleh dikawal dan dibantu pulih jika mendapat terapi yang sesuai oleh terapis berpengalaman.

Paraneoplastic Filiform Hyperkeratosis and Immunoglobulin-Associated Vasculitis in Myeloma Progression: A Case Report

Multiple myeloma is a lymphoproliferative disease, which rarely presents with skin involvement or associated symptoms. Better awareness of these dermatological presentations is required for early diagnosis and to guide the patient towards appropriate therapy. We report on a patient with diffuse filiform hyperkeratosis and immunoglobulin-associated vasculitis in a severe progression of a known myeloma.

Ocena kompetencji komunikacyjnej dziecka z zespołem Aspergera (OKKA) — własne narzędzie diagnostyczne

The article presents the author’s own tool to diagnose the level of communicative competence in a child with Asperger Syndrome at an early age. The diagnostic tool includes an interview with the parents, the diagnosis site, and exercises to check the functioning of the speech apparatus. The article presents exercises for diagnosing the level of linguistic social, situational, pragmatic, and systemic proficiency. At the end, there is a card for assessing the level of communicative competence of a child with Asperger Syndrome which will help systematize knowledge and prepare an appropriate therapy.

Innocuous Lesions and Not so Innocuous Lesions of the Skin and Soft Tissue

Background: Cystic lesions of the skin and soft tissue are often neglected and thought to be innocuous or harmless. These lesions need to be excised to exclude malignancy. The lesions may present in unusual sites and may also be of infective origin. Thus, there is an urgent need to determine the prevalence and identify the histopathological features of the cystic lesions as the innocuous appearing lesions may actually not be so innocuous. In addition, it is the histopathological features that determine the treatment modality. Aim: To determine the features and prevalence of the types of cysts in skin and soft tissue. Materials and Methods: A retrospective study of the cystic lesions of the skin and soft tissue was conducted. The records from the Department of Pathology, Saveetha Medical College were retrieved and reviewed for patients with cystic lesions of the skin and soft tissue over a one year period extending between January 2019 and December 2019. The records were examined for the following data : age, sex, type of lesion, clinical and histopathological diagnosis. Results: In all 109 cases with skin and soft tissue swellings were analyzed. Among these 53 were males and 56 were more females reported (51 %) of cystic swellings as compared to males (48%). Cystic lesions were most commonly encountered in the age group of 18 to 40 years, which suggests that there may be a role for trauma or occupation related occurrence. A variety of cysts were encountered such as epidermoid cysts (70%), Trichilemmal cyst (7%), and Ganglion (7%).Phaeohyphomycotic cyst, mucous retention cyst, hemangioma and pilomatrixoma. Epidermal cysts were more frequently encountered in males (54%) than females (46%).Most lesions occurred in the back. Conclusion: Epidermal cysts may frequently be associated certain syndromes, hence it is important to evaluate these cysts. In addition phaeohyphomycotic cysts may be mistaken for Ganglion, so histopathological examination is necessary to initiate appropriate therapy.