Case Reports in Medicine最新文献

Infective endocarditis is a devastating disease with high morbidity and mortality. Infective endocarditis affecting all four valves is rarely encountered. Even rarer is the involvement of all four valves by nutritionally variant streptococci, Granulicatella. The case describes a female in her 40s, known case of small perimembranous ventricular septal defect, who presented with symptoms of fever and congestive cardiac failure, with severe anemia, glomerulonephritis, and pain abdomen, who was found to have vegetations on pulmonary, tricuspid, mitral, and aortic valves, with pulmonary regurgitation, tricuspid regurgitation, mitral, and aortic regurgitations. Blood culture grew Granulicatella adiacens species. She improved clinically after intravenous antibiotics, decongestive measures, and blood transfusion. Causation of quadrivalvular infective endocarditis is rare and previously has not been documented in Granulicatella infection, a fastidious species. Interestingly, the patient remained quite stable despite involvement of all four heart valves, likely due to the predominant involvement of the pulmonary valve. This case report discusses the factors predisposing to infective endocarditis in a known case of congenital heart disease and the importance of timely diagnosis and treatment.

The fourth heart sound (S4) is an auscultatory marker of left ventricular diastolic dysfunction (LVDD). Additionally, S4 correlates with atrial function, which is typically impaired in patients with Type 2 diabetes (T2D) but can improve with sodium-glucose co-transporter-2 inhibitor (SGLT2i) therapy. This case report highlights the dynamic changes in S4 associated with modification of SGLT2i therapy. An 83-year-old male with T2D and LVDD, confirmed via echocardiography, was treated with SGLT2i therapy for 4 years for glycemic control. The therapy was discontinued in December 2023 because of increased nocturnal urination. Two months after discontinuation, the patient developed pronounced S4, accompanied by mild chest discomfort and worsening of evening leg edema. Resumption of SGLT2i therapy led to a marked reduction in S4 along with a remarkable improvement in chest discomfort and edema within 1 month. These findings were confirmed by visual phonocardiography. This case underscores the potential utility of dynamic S4 changes as a noninvasive indicator of SGLT2i therapy adjustment. These findings highlight the novel clinical application of S4 monitoring in mitigating heart failure progression in patients with T2D.

Granuloma annulare (GA) is an inflammatory and granulomatous dermatosis characterized by annular erythematous papules/plaques frequently localized in acral regions. Proinflammatory cytokines such as tumor necrosis factor-alpha (TNF-α) and interferon-gamma (IFN-γ), which are released by T helper 1 (Th1) lymphocytes inducing macrophages, are thought to play a role in its pathogenesis. Lichen planus (LP) is an inflammatory dermatosis characterized by pruritic scaly purple papules, often on the wrists and ankles, and can also affect mucosa, hair, and nails. T-cell-mediated proinflammatory cytokines such as IFN-γ and TNF-α, which are released by macrophages upon Th1 stimulation, have been implicated in the pathogenesis of LP, as in GA. A new treatment option is needed in the treatment of these diseases due to suboptimal results and adverse side-effect profiles with conventional treatments. Apremilast is a phosphodiesterase-4 (PDE4) inhibitor and inhibits the production of various inflammatory mediators such as IFN-γ, TNF-α, IL-2, IL-5, IL-8, IL-12, and leukotriene B4. This molecule has three Food and Drug Administration (FDA) approved indications: moderate to severe plaque psoriasis, psoriatic arthritis, and oral ulcers associated with Behcet's disease. Apremilast exhibits a favorable side-effect profile compared to conventional treatments and is a good treatment option with its ability to reduce cytokines implicated in the pathogenesis of GA and LP. Here, we report the case of a 55-year-old woman in whom apremilast treatment led to an almost complete resolution of her GA and LP.

Background: Pleomorphic adenoma is the most prevalent benign tumor of the salivary glands. While it primarily affects the parotid gland, it can also arise from minor salivary glands in the soft palate. Presentation: A case of a 28-year-old female who presented with a painless, slowly enlarging mass on the soft palate was reported. CT revealed a well-circumscribed lesion measuring 2.5 × 2.0 cm. Complete surgical excision was performed, and histopathological analysis confirmed the diagnosis of pleomorphic adenoma. Conclusion: Pleomorphic adenoma of the palate is an important entity to consider in the differential diagnosis of salivary gland neoplasms. Early recognition and complete surgical removal are key to preventing recurrence and malignant transformation.

A 56-year-old female patient, with no significant comorbidities, presented with abnormal breast exam findings. Imaging revealed a 5.4-cm irregular nodule in the left breast, diagnosed as invasive breast carcinoma (NST, Grade 2). Neoadjuvant chemotherapy was initiated, leading to a reduction in lesion size. Surgical intervention included quadrantectomy, sentinel lymph node biopsy, and axillary lymphadenectomy, which revealed residual carcinoma and positive lymph nodes. Postoperatively, chylous drainage through a Portovac drain was observed, prompting reoperation, during which the injured lymphatic duct was identified. Conservative management with medium-chain triglycerides resulted in a progressive reduction of drainage. The patient was discharged on the 13th postoperative day, subsequently underwent adjuvant radiotherapy, and is currently receiving regular outpatient follow-up.

Introduction: Stiff person syndrome (SPS) is a rare neurological disorder marked by muscle stiffness, spasms, specific electromyographic findings, and elevated levels of glutamate acid decarboxylase. Patients' symptoms and signs can be challenging for general practitioners and specialists. Case report: We present a case of a 56-year-old man with a history of type 1 diabetes with episodes of severe chest, abdominal, and low back pain; severe tachycardia; and difficulty with walking who was seen by different physicians over a period of 10 months without any significant improvement. He had significant weight loss during this period due to abdominal pain. Multiple studies, including computerized tomography and magnetic resonance imaging of the abdomen and entire spine, upper and lower gastrointestinal (GI) endoscopies, and cardiac catheterization, were unremarkable. The patient presented at our facility with severe abdominal and chest pain, diffuse abdominal muscle rigidity, and periods of severe tachycardia. He also had elevated creatine kinase and lactate levels. Extensive workup for infectious, cardiac, and GI processes was negative. The patient was diagnosed with SPS based on history, clinical examination, and an exceedingly high titer of glutamic acid decarboxylase. He responded well to oral diazepam, baclofen, and gabapentin, and he received a 5-day course of intravenous immunoglobulin therapy. Conclusion: In patients presenting with recurrent tachycardia, abdominal pain, and chest pain, SPS should be considered in the differential diagnosis. It is essential for non-neurologists to be familiar with this disorder.

Background/Objectives: Facioscapulohumeral dystrophy (FSHD) patients experience a progressive loss of fat free mass (FFM) and increase of fat mass (FM). Such an occurrence may lead to an impaired physical efficiency. A personalized diet, combined with a physical exercise program, may improve body composition, and potentially reduce functional limitations. Here, we present the case of a nineteen-years-old male clinically and genetically characterized FSHD patient who underwent a one-year nutritional and training intervention aimed at contrasting the disease-induced body composition modifications and associated negative sequelae. Methods: Baseline assessments included dietary intake (nutritional anamnesis), body composition (bioimpedance analysis), biochemical parameters (blood tests), resting metabolic rate (RMR; measured by indirect calorimetry), physical efficiency, and quality of life (Checklist Individual Strength Fatigue and Functional Assessment Chronic Illness Therapy Fatigue). Based on the initial findings (insufficient daily caloric intake, inadequate leucine distribution, and nonphysiological glycemia), a personalized nutritional (50% carbohydrates, 30% fats and proteins at 1.5 g/kg of body weight/day, with leucine intake of 1-3 g per meal) and supplementation (11 g/day of essential amino acids) plan was prescribed, alongside a physical training program composed by two resistance and one aerobic exercise sessions per week. Results: After one year, improvements in body composition (FFM +6.9 kg, body cell mass +3.3 kg, FM -2.1 kg), RMR (+309 kcal/day), fasting glycemia (-1.6 mmol/L), perceived physical efficiency (diminished perceived fatigue), and quality of life were reported. Conclusions: Our results suggest that a tailored dietary intervention, when combined with an appropriate training program, could represent a promising long-term strategy for contrasting disease-related physical deconditioning in FSHD. These findings encourage further research on this approach in a larger cohort of patients.

Background: Gitelman syndrome is a rare autosomal recessive renal tubulopathy, characterized by hypomagnesemia, hypokalemia, hypochloremia, and metabolic alkalosis. The syndrome commonly presents with symptoms such as fatigue, muscle cramps, and tetany, impacting patients' quality of life. Although genetic confirmation via identification of mutations in the SLC12A3 gene is ideal, resource constraints often limit access to these tests, especially in low-resource settings. This study aims to analyze the clinical, biochemical, and familial features of Gitelman syndrome in three patients, highlighting the syndrome's characteristic biochemical abnormalities and discussing the implications of limited genetic testing. Methods: We conducted a comparative analysis of three diagnosed cases of Gitelman syndrome. Clinical presentations, biochemical data (with emphasis on magnesium and potassium levels), and family histories were systematically collected. Due to logistical limitations, genetic testing could not be performed. A comparative evaluation was then undertaken to assess commonalities and differences among the cases. Results: All three patients presented with hallmark clinical features of Gitelman syndrome, including fatigue, muscle cramps, and intermittent tetany. Biochemical evaluation revealed persistent hypokalemia (serum potassium: 1.0-3.1 mmol/L), hypomagnesemia (0.53-0.60 mmol/L), and metabolic alkalosis (HCO₃ ^-: 28-31.5 mmol/L; pH: 7.40-7.45). Urinary electrolyte profiles demonstrated inappropriate renal losses of potassium (54 mmol/24 h), chloride (180-190 mmol/24 h), and sodium (70-120 mmol/24 h). Serum creatinine levels remained within normal limits (7-9.1 mg/L), and parathormone concentrations ranged from 30 to 32 pg/mL. No suggestive clinical signs of Bartter syndrome were observed, and secondary causes such as diuretic use, autoimmune nephropathies, and endocrinopathies were excluded. Family history was negative in two of the three cases, suggesting the potential for de novo mutations or undetected autosomal recessive inheritance. All patients were managed with oral potassium and magnesium supplementation, resulting in notable clinical and biochemical improvement, with follow-up serum potassium ranging from 3.5 to 3.9 mmol/L and magnesium from 0.74 to 1.3 mmol/L. Conclusion: The clinical and biochemical findings in these patients are strongly indicative of Gitelman syndrome, even in the absence of genetic confirmation. This study emphasizes the necessity of a multidisciplinary approach in diagnosing and managing Gitelman syndrome, where biochemical assessments and clinical findings are instrumental. While genetic testing could provide conclusive evidence, effective management through electrolyte supplementation plays a crucial role in improving patients' quality of life.

Systemic lupus erythematosus (SLE) and Sjögren's syndrome (SS) are chronic, multisystem disorders. When the two coexist, the manifestations become more complex and diverse, and early diagnosis and treatment are a key to improving the patient prognosis. However, to date, only scarce reports have been published, especially overlap syndrome. We review the diagnosis and treatment process of a case of acute renal injury and encephalopathy syndrome secondary to SLE with overlapping SS to gain a comprehensive understanding of the disease with review of the current literature.

Hodgkin's lymphoma (HL) is uncommon, and its etiology has been attributed to infectious sources such as Epstein-Barr virus (EBV). Though pathogenesis is not completely understood, studies have revealed that specific viral proteins from EBV conduct the process of HL development. In this report, we will discuss the case of a patient who developed EBV-associated classic HL 15 years after an episode of infectious mononucleosis.