Medicine international最新文献

Lenalidomide is widely used in the treatment of hematological malignancies, with bone marrow suppression being one of the most common hematological adverse effects associated with its use. However, lenalidomide-associated pure red cell aplasia (PRCA) remains exceptionally rare. The present study describes a case of PRCA secondary to lenalidomide therapy in a patient with POEMS syndrome. A 61-year-old woman diagnosed with POEMS syndrome received lenalidomide (25 mg/day) in combination with dexamethasone. Following 3 months of treatment, she developed severe anemia accompanied by a markedly reduced absolute reticulocyte count. Bone marrow aspiration and biopsy demonstrated a complete absence of erythroid precursors, establishing the diagnosis of PRCA. After excluding other potential causes, including viral infections, malignancies and alternative drug-related toxicities, lenalidomide was considered the most likely etiology. Lenalidomide was discontinued, and the patient was subsequently treated with cyclosporine and corticosteroids. Her anemia markedly improved after 16 weeks of therapy, with the normalization of the reticulocyte count. No recurrence was observed during 6 months of follow-up. The present study also performed a brief review of the literature, discussing this rare phenomenon.

The present study describes a rare case of torsion of an ovarian fibroma in a woman of reproductive age, where a severe diagnostic dilemma arose in differentiating it from a solid ovarian cancer. A 48-year-old female patient presented to the hospital with a 1-week history of low-grade fever and mild, continuous abdominal pain, accompanied by nausea and a mild sensation of abdominal bloating. The pain, which was not associated with signs of peritoneal irritation, was more pronounced in the right iliac fossa. The levels of inflammatory and tumor markers were found to be slightly elevated. A computed tomography scan and magnetic resonance imaging of the right adnexal region revealed a large heterogeneous mass with cystic-necrotic areas inside, free fluid collection in the pelvis, and multiple slightly enlarged para-aortic and iliac lymph nodes. These imaging findings, combined with the lack of clinical and laboratory improvement following treatment with antibiotics, led to the decision to proceed with a laparotomy, without having ruled out the diagnosis of solid ovarian cancer. Intraoperatively, the torsion of an ovarian fibroma was identified. A total abdominal hysterectomy with bilateral salpingo-oophorectomy was performed. An immunohistochemical examination confirmed the diagnosis of ovarian fibroma. Following an uneventful post-operative course, the patient was discharged from the clinic on the 4th day post-operatively. The present case report highlights an unusual clinical manifestation of ovarian fibroma torsion, which entailed milder symptom intensity and characteristics resembling ovarian malignancy instead. The aim of the present study was to report this uncommon manifestation, explore its differential diagnosis from malignancy and provide a brief review of the current diagnostic and treatment algorithms for clinicians faced with similar cases in their practice. In this manner, it is hoped that the present study may contribute to the improvement of the diagnostic accuracy and treatment efficacy for similar cases.

Rubinstein-Taybi syndrome (RTS) or Broad Thumb-Hallux syndrome, is a rare neurodevelopmental disorder characterized by distinctive physical, cognitive and congenital abnormalities. Mutations in the CREBBP or EP300 genes are implicated, often arising de novo. While cardiac defects are noted in 32.6% of patients with RTS, the association with dilated cardiomyopathy (DCM) remains poorly explored. The present study describes a clinically diagnosed case of a 32-year-old male patient with RTS, manifesting with symptoms of heart failure. The patient, born to a consanguineous marriage, exhibited hallmark features of RTS, including short stature, dysmorphic facial features, intellectual disability and broad thumbs. DCM was confirmed by echocardiography with an ejection fraction of 20%. The patient responded well to diuretics for heart failure and was referred for specialized cardiology and surgical management. Cardiac manifestations in RTS vary from septal defects to complex anomalies, with few reports on DCM. The genetic basis of RTS may contribute to cardiac dysfunction, underscoring the need for multidisciplinary care. The case described herein highlights the necessity of recognizing RTS in adults with unexplained syndromic features and cardiac symptoms. Comprehensive evaluation, including cardiac screening, is essential for improving patient outcomes. Further research is warranted to establish the link between RTS and DCM and to develop diagnostic and therapeutic guidelines.

Chemotherapy has been known to negatively affect ovarian function. This sometimes results in infertility, particularly in young patients who still desire to have children. The effect of chemotherapy on young women with breast cancer has not been extensively studied. The objective of the present study was to determine the effects of chemotherapy on ovarian function/reserve among pre-menopausal female patients with breast cancer. Pre-menopausal females with breast cancer scheduled for chemotherapy were recruited for the study. Blood samples were obtained to determine the plasma concentrations of three hormones, namely estrogen, follicle stimulating hormone and anti-Müllerian hormone. The samples were collected at pre-chemotherapy, at 3 months and then at 6 months post-chemotherapy. The assays were performed using the direct immunoenzymatic colorimetric method. Data from 82 participants were analyzed. The age range of the patients was 32-41 years (mean age, 36.6±4.6 years). There were significant reductions in the plasma concentrations of estrogen and anti-Müllerian hormone, with significant increase in the levels of follicle stimulating hormone. An irregular or the cessation of menstrual flow was observed in some patients who were >30 years of age. There was no significant difference in the effects with different chemotherapeutic regimens for breast cancer. The negative ovarian effects on tested hormones persisted 6 months post-chemotherapy. Overall, the present study demonstrates that chemotherapy for breast cancer has deleterious effects on ovarian function, as reflected by altered plasma levels of estrogen, follicle stimulating hormone and anti-Müllerian hormone. Clinicians should be aware of this and counsel such patients appropriately on fertility issues to ensure a better quality of life for patients who survive breast cancer.

Invasive candidiasis (IC) is one of the principal causes of morbidity and mortality in critically ill patients, particularly in intensive care units (ICUs). Early diagnosis and prompt treatment are vital for achieving optimal outcomes for patients; however, factors such as delayed diagnosis, antifungal resistance and difficulty in managing critically ill patients make this difficult. The present review describes some of the major challenges involved in the management of IC in ICU settings, including delays in diagnosis, outbreaks of multi-drug-resistant Candida species and high mortality rates. Improvements in innovative diagnostic methods, including rapid molecular testing, as well as developments in antifungal therapy, such as rezafungin and ibrexafungerp, help improve patient outcomes. In addition, antifungal stewardship, prevention and combination therapy enhance the management of this complex infection. The present review also discusses clinical guidelines emphasizing the need for early empirical therapy, species-specific definitive treatment, and proper treatment duration. Continuous research toward new diagnostic procedures, antifungal agents and vaccines is essential to overcoming the challenges posed by IC in critically ill patients.

Granulomatous mastitis (GM) is a rare inflammatory condition that primarily affects the breasts, and its occurrence in accessory breast tissue is even rarer. The present report describes the case of a patient with GM in the accessory breast. A 43-year-old female patient presented with a 1-month history of pain in the left axilla and breast. An analysis of her medical and surgical history did not reveal any notable findings, but she had a history of four full-term pregnancies and a cumulative lactation period of 4 years. Upon a clinical examination, a palpable, ill-defined, tender mass was noted along with an accessory breast and nipple in the axilla. The diagnosis was chronic mastitis, and she was treated with oral corticosteroids, amoxicillin, cabergoline and analgesics. Her condition initially improved; however, the symptoms recurred 1 year later. A wide local excision of the left axillary tail was performed. The patient experienced marked improvement post-surgery and remained stable, with no recurrence, at the 1-year follow-up. In addition, in the present study, seven recent cases of GM were included for a brief literature review, involving patients aged 23 to 42 years. Of these cases, 6 cases did not have any notable medical histories. A total of 6 patients had a history of pregnancy, with an average lactation duration of 22.7 months. The right breast was affected in 6 cases. Pain and swelling were the most frequent symptoms. A conservative approach, which included antibiotics, corticosteroids and wound dressing was used for 5 patients. In total, 6 patients achieved recovery. On the whole, the present study demonstrates that accessory breast tissue can develop GM. While corticosteroids may provide favorable short-term results, they do not necessarily prevent recurrence, whereas surgical management may provide more durable long-term outcomes.

Growth hormone (GH) is a peptide hormone produced by the anterior pituitary gland, which regulates growth and development. Abnormal levels of GH have been associated with a diverse variety of disorders affecting life quality and longevity; including dwarfism, acromegaly, gigantism and cancer. Based on the fact that growth hormone-releasing hormone (GHRH) and somatostatin exert opposing effects on the regulation of GH, GHRH antagonists (GHRHAnts) and synthetic somatostatin analogs (SSAs) have been developed to alleviate GH-related illness. The present study provides information on the multifaceted role of GH in human health and disease. Furthermore, it summarizes recent findings on the protective effects of GHRHAnts and FDA-approved SSAs, such as octreotide, lanreotide and pasireotide, in GH-related and endothelium-dependent dysfunctions. Based on the provided bibliography, an emerging body of evidence suggests that GH modulators may represent a promising therapeutic possibility towards blood brain barrier dysregulation, keratitis, direct and indirect lung injury, sepsis, and acute respiratory distress syndrome.

Vertebrogenic chronic low back pain (CLBP) significantly impairs the quality of life of patients, necessitating effective treatment strategies. The present study compared two intervention strategies for this condition: Intradiscal steroid injection (IDSI) in one group with 12 patients, vs. intraosseous basivertebral nerve radiofrequency ablation (BVA) in another group of 10 patients. The present study included patients aged 18-70 years, irrespective of sex, whilst specific inclusion and exclusion criteria were applied. IDSI involves corticosteroid injections into the intervertebral disc, reducing inflammation and pain, whereas BVA targets the basivertebral nerve to disrupt pain signals. A retrospective analysis of the Oswestry Disability Index (ODI) scores of the patients before and after treatment revealed that both treatments effectively reduce disability. The IDSI revealed a higher percentage of complete symptom resolution (at 75%), whereas BVA appeared to provide more consistent and notable improvements across patients, with complete symptom resolution at 70%. Despite potential side-effects, such as transient pain, increased blood sugar levels, nerve damage or infection, both treatments provide substantial pain relief and benefits that outweigh typical side-effects, presumably underscoring the importance of personalized treatment plans. Nonetheless, taking into consideration the notable limitations of the present study, it is essential to emphasize the requirement for further larger-scale research.

Ulcerative colitis (UC) is a chronic relapsing-remitting disease that results in not only physical, mental and social, but also a significant financial burden to patients and their caregivers. The present study aimed to analyse the monthly cost of care for patients with UC in remission during their regular follow-up and compare this to the expenses born during an episode of acute exacerbation in order to estimate the costs of such episodes of acute severe UC (ASUC). Patients in remission defined using the simple clinical colitis activity index (SCCAI) of <3 were recruited from the outpatient department. Patients with flares were those requiring admission for ASUC. Demographic and clinical data were recorded for each patient. A prevalence-based, micro-costing, human capital approach was used to estimate the direct and indirect monthly per capita mean cost-of-illness. The present study enrolled 25 patients with UC who were in remission (SCCAI of <3) and 51 patients with UC who presented with flares and required hospitalisation for ASUC between January, 2022 to June, 2024. The average monthly cost of care for patients with UC in remission in a tertiary government setup was calculated to be 4,112/- INR. The direct medical cost was 3,676/- INR and the direct non-medical cost was 435/- INR. The cost of management of an episode of ASUC was 44,634/- INR per individual per episode. The direct medical cost was 20,038/- INR, the direct non-medical cost was 4,087/- INR and the indirect cost was 20,509/- INR. The cost of the flares managed surgically was 155,967±100,554/- INR, which was significantly higher than that of flares managed medically (26,922±22,751/- INR; P<0.001). The cost of illness during episodes of acute flares contribute disproportionately to a high financial burden in care of patients with UC. Direct medical costs due to the cost of medications is a major contributor to the cost of care for patients with UC in remission whereas during a period of flares, the indirect cost due to productivity loss is responsible for the majority of the financial burden.

Maturity-onset diabetes of the young type 5 (MODY5), a rare disease, is often misdiagnosed as type 2 diabetes, leading to delays in diagnosis. 17q12 deletion syndrome is a rare chromosomal abnormality, the signs and symptoms of which can vary widely among different patients, including those with MODY5. The present study reports the case of a 9-year-old patient with chromosomal 17q12 deletion syndrome identified by the de novo deletion of the 1.49 Mb segment in the 17q12 band of the HNF1B gene by genetic analysis. The patient presented with MODY5, a short stature and hypertransaminasemia as clinical features. The risk of inheritance of 17q12 deletion syndrome is ~50%, and genetic counseling is recommended for all patients who are suspected to have or are diagnosed with 17q12 deletion syndrome.