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Heliyon Aug 2023Brucellosis is a common zoonotic infectious disease with diverse and non-specific clinical manifestations caused by Although can cause damage to multiple systems in...
Brucellosis is a common zoonotic infectious disease with diverse and non-specific clinical manifestations caused by Although can cause damage to multiple systems in the human body, hematological complications are relatively rare. We present a case of a 47-year-old male brucellosis patient with pancytopenia. In May 2018, the patient was diagnosed with brucellosis and recovered after receiving antibiotic treatment (rifampicin 600 mg/day and doxycycline 200 mg/day) for six weeks. However, after three years, the patient experienced a recurring high fever. Brucellosis relapse was confirmed based on the patient's clinical history, Rose Bengal plate agglutination test and standard tube agglutination test results. Routine blood examination revealed a decrease in the whole blood cell count, suggesting bone marrow suppression. Bone marrow aspiration and bacterial culture confirmed the diagnosis of brucellosis with pancytopenia. Antibiotic treatment failed to effectively improve the patient's condition. Therefore, a combination of immunomodulatory and antibiotic treatments was used. The antibiotic regimen included oral rifampicin 600 mg/day, intravenous doxycycline hydrochloride 200 mg/day, and subcutaneous injection of human granulocyte-stimulating factor (0.2 mg/day). Immunomodulatory therapy consisted of 20,000 mg/day intravenous human immunoglobulin (pH 4) for five days and 800 mg/day oral pidotimod liquid for 20 days. As the treatment progressed, the count gradually recovered to normal levels, and the symptoms of bone marrow suppression were alleviated. PCR testing revealed the absence of DNA in both monocyte and serum samples. Furthermore, negative standard tube agglutination test results were obtained. These findings indicate that the immunomodulatory therapy resulted in a complete clearance of Therefore, immunomodulatory therapy could be an effective option in cases of brucellosis with pancytopenia that are unresponsive to conventional antibiotic treatment. Further research and clinical evidence are required to confirm and optimize the use of immunomodulatory therapies in patients with brucellosis.
PubMed: 37588608
DOI: 10.1016/j.heliyon.2023.e18907 -
Journal of Medical Genetics Aug 2023Fanconi anaemia (FA) is a rare inherited bone marrow failure disease caused by germline pathogenic variants in any of the 22 genes involved in the FA-DNA interstrand...
BACKGROUND
Fanconi anaemia (FA) is a rare inherited bone marrow failure disease caused by germline pathogenic variants in any of the 22 genes involved in the FA-DNA interstrand crosslink (ICL) repair pathway. Accurate laboratory investigations are required for FA diagnosis for the clinical management of the patients. We performed chromosome breakage analysis (CBA), FANCD2 ubiquitination (FANCD2-Ub) analysis and exome sequencing of 142 Indian patients with FA and evaluated the efficiencies of these methods in FA diagnosis.
METHODS
We performed CBA and FANCD2-Ub analysis in the blood cells and fibroblasts of patients with FA. Exome sequencing with improved bioinformatics to detect the single number variants and CNV was carried out for all the patients. Functional validation of the variants with unknown significance was done by lentiviral complementation assay.
RESULTS
Our study showed that FANCD2-Ub analysis and CBA on peripheral blood cells could diagnose 97% and 91.5% of FA cases, respectively. Exome sequencing identified the FA genotypes consisting of 45 novel variants in 95.7% of the patients with FA. (60.2%), (19.8%) and (11.7%) were the most frequently mutated genes in the Indian population. A founder mutation c.1092G>A; p.K364=was identified at a very high frequency (~19%) in our patients.
CONCLUSION
We performed a comprehensive analysis of the cellular and molecular tests for the accurate diagnosis of FA. A new algorithm for rapid and cost-effective molecular diagnosis for~90% of FA cases has been established.
Topics: Humans; Fanconi Anemia; Fibroblasts; Genotype; Pancytopenia; Clinical Laboratory Techniques
PubMed: 36894310
DOI: 10.1136/jmg-2022-108714 -
Cureus Mar 2024Severe vitamin B12 deficiency presents a diagnostic challenge due to its diverse clinical manifestations, which can mimic serious hematologic disorders such as...
Severe vitamin B12 deficiency presents a diagnostic challenge due to its diverse clinical manifestations, which can mimic serious hematologic disorders such as thrombotic thrombocytopenic purpura (TTP) or leukemia. The case we present here illustrates the unique characteristics of severe B12 deficiency, highlighting key differentiators from other conditions, including decreased reticulocyte counts and markedly elevated lactate dehydrogenase levels indicative of suppressed erythropoiesis. Advanced cobalamin deficiency affects all cell lines, leading to peripheral pancytopenia. Proposed mechanisms include fragile red blood cells prone to shearing, resulting in schistocyte formation, and hyperhomocysteinemia-induced oxidative stress exacerbating hemolysis. Prompt recognition and treatment with B12 replacement are critical, as illustrated by this case of hemolytic anemia and pancytopenia secondary to pernicious anemia, to prevent severe hematologic complications.
PubMed: 38690452
DOI: 10.7759/cureus.57286 -
Pulmonary Circulation Oct 2023We report the first known case of PAMI syndrome associated with pulmonary arterial hypertension (PAH) with a positive response to cyclophosphamide and pulmonary...
We report the first known case of PAMI syndrome associated with pulmonary arterial hypertension (PAH) with a positive response to cyclophosphamide and pulmonary vasodilators. The patient's history began at 7 months with severe pancytopenia and fever. As time progressed, migrating arthritis, hepatosplenomegaly, and a growth deficit manifested without a plausible explanation. At the age of 17, worsening dyspnea led to a diagnosis of severe pre-capillary pulmonary hypertension and, after a multidisciplinary evaluation, a dual therapy with both vasoactive and immunosuppressive agents led to rapid clinical improvement. After a decade of stability, stopping sildenafil caused deterioration, reversed upon reintroduction. Thirty years after the onset of signs and symptoms, a genetic test identified the underlying condition known as PAMI syndrome. As PAMI syndrome involves intense systemic inflammation similar to PAH related to systemic lupus erythematosus (SLE), parameters and functional autonomy appropriately responded to early immunosuppressive and vasoactive therapy. PAMI syndrome, a rare autoinflammatory disease, is linked to precapillary pulmonary hypertension but the exact cause and optimal treatment approach are not fully understood, requiring further research for clarification and improved treatment options.
PubMed: 37876942
DOI: 10.1002/pul2.12300 -
European Journal of Case Reports in... 2024Onychomycosis (OM), a widespread fungus that affects the toenails and/or fingernails, causes a large amount of morbidity and is very frequent in the general population....
UNLABELLED
Onychomycosis (OM), a widespread fungus that affects the toenails and/or fingernails, causes a large amount of morbidity and is very frequent in the general population. The best treatment is systemic antifungals. Terbinafine is a potent antifungal drug that works by targeting the keratin and lipids found in fungi. In the United States, the prevalence of this nail ailment ranges from 2% to 14%; it is 5.5% globally. Here, we describe a case of aplastic anaemia linked to oral terbinafine use. Clinicians should be aware of this rare adverse effect and early discontinuation of the treatment is required to prevent significant morbidity and mortality.
LEARNING POINTS
Aplastic anaemia is a rare side effect of terbinafine.Patients should be advised about this, and serial laboratory testing can be helpful for those who are on a long-term course of terbinafine.Early diagnosis and start of treatment can lead to a favourable outcome.
PubMed: 38223274
DOI: 10.12890/2023_004142 -
JACC. Case Reports Jul 2023Venoarterial extracorporeal membrane oxygenation (VA-ECMO) provides temporary mechanical circulatory support and simultaneous extracorporeal gas exchange for acute... (Review)
Review
Venoarterial extracorporeal membrane oxygenation (VA-ECMO) provides temporary mechanical circulatory support and simultaneous extracorporeal gas exchange for acute cardiorespiratory failure. By providing circulatory support, VA-ECMO gives treatments time to reach optimal efficacy or may be used as a bridge to a more durable mechanical solution for patients with acute cardiopulmonary failure. It is commonly used when a readily reversible etiology of decompensation is identified with very strict inclusion criteria for extracorporeal cardiopulmonary resuscitation use. We present a unique case in which VA-ECMO/extracorporeal cardiopulmonary resuscitation was used after cardiac arrest with pulseless electrical activity in a patient with recurrent lymphoma of the left thigh with recent autologous stem cell transplant.
PubMed: 37545681
DOI: 10.1016/j.jaccas.2023.101913 -
Cureus Aug 2023Upper respiratory infections (URIs) are common and carry a large economic burden due to missed work and school. This has prompted an increased interest in...
Upper respiratory infections (URIs) are common and carry a large economic burden due to missed work and school. This has prompted an increased interest in over-the-counter zinc supplementation to enhance immunity and reduce illness duration. Zinc's antiviral and anti-inflammatory effects have led to its inclusion in popular URI medications and a surge in supplement sales, particularly among the elderly. However, zinc over-supplementation in this population can lead to hypocupremia, causing various presentations such as anemia, paresthesia, and gait disturbances. Here, we present a case of a 76-year-old female who developed hypocupremia due to zinc supplementation. Her initial presentation involved an unsteady gait, and severe anemia was detected during the examination. The patient's condition required hospital admission, and subsequent investigations confirmed severe pancytopenia and low blood copper levels. Discontinuation of zinc supplementation and oral copper gluconate administration led to a full recovery of her anemia and cell count; however, her neurological deficits remain. This case highlights the importance of counseling patients on the potential adverse effects of zinc supplementation and brings to light a potentially overlooked diagnosis, particularly in the elderly population.
PubMed: 37736439
DOI: 10.7759/cureus.43856 -
Pathogens (Basel, Switzerland) Feb 2024Visceral leishmaniasis (VL) is a severe endemic disease with a fatal outcome if left untreated. The symptoms of patients are diverse and atypical. Against the background...
Visceral leishmaniasis (VL) is a severe endemic disease with a fatal outcome if left untreated. The symptoms of patients are diverse and atypical. Against the background of anemia and pancytopenia, the condition of the patients gradually worsens with marked cachexia. Through sharing our experience, we aim to draw attention to this deadly disease. Clinical and laboratory data for 58 patients with VL treated over a forty-five-year period are presented. The diagnosis was established within a duration of 1 to 28 months of illness. Continuous fever (38-42 °C), splenomegaly, hepatomegaly, severe anemia (decreased hemoglobin to lowest values of 31 g/L), leucopenia (lowest values of leucocytes et 0.5 g/L), and thrombocytopenia (reduced thrombocyte count to 29 g/L) were observed. The diagnosis was made on the basis of microscopic evidence of amastigote forms in bone marrow smears and serological tests. The patients were treated with Glucantime for 17 to 21 days. Relapses were observed in seven patients (12.1%) and fatal outcome was observed in two patients (3.5%) during treatment, who developed acute respiratory and cardiovascular failure. In Bulgaria, Visceral leishmaniasis is primarily endemic in the southern regions and should be suspected not only in patients who have returned from tropical and subtropical countries, but also in those who have not traveled abroad. The challenges associated with VL stem from delayed diagnosis of patients, as this disease remains unrecognized by physicians.
PubMed: 38535548
DOI: 10.3390/pathogens13030205 -
Cureus Oct 2023Sarcoidosis is a systemic inflammatory disease that can cause granulomatous infiltration of almost all organs and tissues which allows for a wide variety of...
Sarcoidosis is a systemic inflammatory disease that can cause granulomatous infiltration of almost all organs and tissues which allows for a wide variety of presentations that may overlap with other disease processes. Renal sarcoidosis is a much rarer site of extrapulmonary involvement and may present as hypercalcemia, tubular or glomerular dysfunction, and/or granulomatous interstitial nephritis. Prompt diagnosis of sarcoidosis is crucial for initiating appropriate treatment and avoiding organ dysfunction. Herein, we describe a case of an armed forces service member who developed extrapulmonary sarcoidosis and renal sarcoidosis with acute complications refractory to glucocorticoids requiring adalimumab. The case highlights and emphasizes a rare manifestation of extrapulmonary sarcoidosis, the importance of avoiding premature closure of the differential diagnosis to avoid diagnostic delay and treatment imitation, and the unique clinical reasoning that occurs in active-duty personnel where diagnoses and subsequent treatments can have career implications and affect the ability of the service member to maintain the ability to deploy worldwide.
PubMed: 38021643
DOI: 10.7759/cureus.47115 -
Cureus Aug 2023Waldenstrom macroglobulinemia (WM) is a rare lymphoproliferative disease that can have an ambiguous clinical presentation. A key component of the pathophysiology of WM...
Waldenstrom macroglobulinemia (WM) is a rare lymphoproliferative disease that can have an ambiguous clinical presentation. A key component of the pathophysiology of WM is bone marrow infiltration, which most commonly presents as anemia. Other symptoms of WM tend to be generalized and non-specific, which presents a diagnostic challenge. This was the case with our patient as well, when he presented to our outpatient clinic with non-specific symptoms. We present a 79-year-old male with longstanding pancytopenia, polyarthralgia, bilateral pedal edema, decreased appetite, and increased bleeding from wounds. The patient had a complete blood count (CBC) and complete metabolic panel (CMP) done, confirming present anemia, which prompted inpatient treatment and an oncology workup, confirming WM. The patient began a zanubrutinib monotherapy regimen, showing improvement in his pancytopenia, polyarthralgia, and overall symptoms.
PubMed: 37750145
DOI: 10.7759/cureus.44127