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CEN Case Reports Apr 2024We present a case of nephronophthisis 13 that resulted from WDR19 variants. The patient, a nine-year-old Japanese boy, had detection of mild proteinuria during a school...
We present a case of nephronophthisis 13 that resulted from WDR19 variants. The patient, a nine-year-old Japanese boy, had detection of mild proteinuria during a school urine screening. Urinalysis revealed mild proteinuria without hematuria. Blood tests indicated pancytopenia, mild elevation of liver enzymes, and kidney dysfunction. Ultrasound examination disclosed hepatosplenomegaly. Abdominal computed tomography and bone marrow assessments ruled out malignant tumors. Subsequent kidney and liver biopsies suggested nephronophthisis and congenital hepatic fibrosis. Furthermore, comprehensive genetic analysis through next-generation sequencing revealed compound heterozygous variants in WDR19 (NM_025132.4), including the previously reported c.3533G > A, p.(Arg1178Gln), and c.3703G > A, p.(Glu1235Lys) variants, confirming the diagnosis of nephronophthisis 13. There is potential need for liver and kidney transplantation in patients with nephronophthisis and hepatic fibrosis. Early diagnosis is therefore crucial to mitigate delays in treating complications associated with kidney and hepatic insufficiency and to facilitate preparation of transplantation. To achieve early diagnosis of nephronophthisis, it is imperative to consider it as a differential diagnosis when extrarenal symptoms and kidney dysfunction coexist, particularly when mild proteinuria is observed through opportunistic urinalysis. Genetic testing is important because nephronophthisis manifests as diverse symptoms, necessitating an accurate diagnosis. Next-generation sequencing was shown to be invaluable for the genetic diagnosis of nephronophthisis, given the numerous identified causative genes.
PubMed: 38589766
DOI: 10.1007/s13730-024-00871-5 -
Heliyon Apr 2024Tracheal injury is a rare but potentially serious acute complication of endotracheal intubation. Very few cases of tracheal injury associated with coagulation...
BACKGROUND
Tracheal injury is a rare but potentially serious acute complication of endotracheal intubation. Very few cases of tracheal injury associated with coagulation abnormalities have been reported in the literature. We present a rare case of a patient presenting with tracheal injury in combination with coagulation abnormalities following thyroidectomy.
CASE PRESENTATION
A 58-year-old woman with a history of postoperative chemotherapy for breast cancer, gastric polyps, multiple colonic polyps, esophageal papillary adenomas, and thyroid adenomas presented with dyspnea following 10 ml hemoptysis on the third day after thyroidectomy; she was admitted to the intensive care unit and underwent tracheal intubation for maintaining the airway. Subsequent bronchoscopy revealed a nodular red neoplasm 5-cm from the carina in the trachea obstructing part of the lumen, with a small amount of fresh hemorrhage on the surface. Tracheal injury was considered the preliminary diagnosis. Fiberoptic bronchoscope guided tracheal intubation helped prevent rupture of the tumor, and the cannula was properly inflated to arrest the bleeding while blocking the lower part of the trachea. An emergency surgical evacuation of the cervical hematoma was performed for managing postoperative bleeding. The patient demonstrated persistent pancytopenia despite frequent transfusions. Laboratory examination results revealed abnormal coagulation parameters, anemia, and hepatic dysfunction. Following a multidisciplinary team discussion, pituitrin for hemostasis, tranexamic acid for strengthening hemostasis treatment, and nutritional support and anti-infection treatment were initiated. Endotracheal tube cuff inflation was performed to compress the bleeding site. Complete resolution of the subcutaneous hematoma was observed nine days after the tracheal injury; bronchoscopy revealed residual ecchymosis in the airway hematoma with no evidence of obstruction.
CONCLUSION
Conservative management of tracheal injury limited to the mucosa or submucosa without significant amount of active bleeding using endotracheal intubation is considered a practical and effective approach. Successful management was ensured by appropriate clinical suspicion, early multidisciplinary team discussion, and prompt diagnosis and interventions.
PubMed: 38586347
DOI: 10.1016/j.heliyon.2024.e28737 -
International Journal of Infectious... Jul 2024This is a case report of a 6-year-old girl with relapsed B cell acute lymphoblastic leukemia in which adoptive cell therapy was applied successfully to treat refractory...
This is a case report of a 6-year-old girl with relapsed B cell acute lymphoblastic leukemia in which adoptive cell therapy was applied successfully to treat refractory human parvovirus (HPV) B19 infection. Allogenic chimeric antigen receptor (CAR) T-cell therapy (bispecific CD19/CD22) was bridged to hematopoietic stem cell transplantation (HSCT) using a haploidentical paternal donor. However, HPV B19 DNAemia progressed and transfusion-related graft versus host disease occurred. After finding a third-party related donor with a better HLA match, haploidentical HPV B19-seropositive CD45RA depleted cells (16.5 × 10/kg) were administered and paternal TCRαβ depleted stem cell were retransplanted. The HPV B19 DNAemia became negative within 1 week and the reticulocyte, neutrophil, hemoglobin, and platelet counts gradually normalized. The patient remained stable during the 1-year outpatient follow-up period. Thus, our case report highlights that persistent B19 infection can lead to pancytopenia, aplastic crisis, and graft rejection and TCRαβ depleted haplo-HSCT is an effective means of hematopoiesis recovery. CD45RO memory T-cell therapy is the key to treating and preventing the development of refractory severe HPV B19 infection.
Topics: Humans; Female; Child; Hematopoietic Stem Cell Transplantation; Parvovirus B19, Human; Parvoviridae Infections; Receptors, Antigen, T-Cell, alpha-beta; Leukocyte Common Antigens; Immunotherapy, Adoptive; Anemia, Aplastic; Graft vs Host Disease; Treatment Outcome; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
PubMed: 38583826
DOI: 10.1016/j.ijid.2024.107043 -
AIDS Research and Therapy Apr 2024HIV testing remains an important tool in identifying people living with HIV/AIDS (PLWHA). An early diagnosis of HIV can lead to a prolonged life expectancy if treatment...
BACKGROUND
HIV testing remains an important tool in identifying people living with HIV/AIDS (PLWHA). An early diagnosis of HIV can lead to a prolonged life expectancy if treatment is initiated promptly. Indicator conditions can be the first sign of an HIV infection and should therefore be recognised and consequently a HIV test should be carried out. Testing should occur in all individuals as sexuality can be experienced by everyone, and stigma can lead to the exclusion of vulnerable groups, leading to a gap in diagnosis and treatment [1, 2].
CASE PRESENTATION
A 63-year-old man, who identifies as bisexual and has had an intellectual disability since birth, presented at our health care centre for HIV testing. A decade ago, the patient was diagnosed with Stage III Diffuse Large B-cell Non-Hodgkin Lymphoma, an AIDS defining cancer. The patient presented at a Haematology and Oncology department 3 months prior, due to a weight loss of 10 kg over the past 5 months. Oral thrush, an HIV-indicator condition, had been diagnosed by the otolaryngologists shortly before. During this medical evaluation, pancytopenia was identified. Despite the presence of indicator conditions, the patient was never tested for HIV in the past. Staff members from the care facility for intellectually disabled suggested conducting a HIV test in our clinic through the public health department, where HIV positivity was revealed. The AIDS-defining diagnosis, along with a CD4 + cell count of 41/µl, suggests a prolonged period of HIV positivity.
CONCLUSION
Due to the presence of existing indicator conditions, an earlier HIV diagnosis was possible. We contend that most of the recent illnesses could have been prevented if earlier testing had been carried out. Therefore, patients presenting with AIDS indicator conditions, including those with mental disabilities, should be given the opportunity to be tested for HIV. HIV/AIDS trainings should be made available to health care professionals as well as to personnel interacting with vulnerable groups.
Topics: Humans; Male; Middle Aged; Acquired Immunodeficiency Syndrome; Early Detection of Cancer; HIV Infections; HIV Testing; Intellectual Disability; Sexual Health
PubMed: 38581028
DOI: 10.1186/s12981-024-00606-7 -
Cureus Mar 2024Splenic marginal zone lymphoma (SMZL) usually presents with splenomegaly or symptoms related to cytopenia. We report a case of a 56-year-old female with previously...
Splenic marginal zone lymphoma (SMZL) usually presents with splenomegaly or symptoms related to cytopenia. We report a case of a 56-year-old female with previously diagnosed antiphospholipid syndrome (APS) on warfarin therapy who initially presented with abdominal pain and was found to have massive splenomegaly and splenic infarction on CT imaging. Initial clinical presentations and imaging findings were attributed to the subtherapeutic coagulation profile. The patient was later diagnosed with SMZL following workup for pancytopenia including bone marrow biopsy, flow cytometry, and PET scan. Cytopenias, splenomegaly, and abnormal metabolic activity in the spleen on the PET scan improved after treatment with four cycles of weekly rituximab. Our report presents a case of a patient with longstanding APS presenting with splenic infarction and pancytopenia who was subsequently diagnosed with SMZL and successfully treated with rituximab.
PubMed: 38562339
DOI: 10.7759/cureus.55374 -
Acta Medica Indonesiana Jan 2024A 44-year-old female presented with a distended abdomen and fatigue. On physical examination, prominent splenomegaly was found. The laboratory investigations revealed...
A 44-year-old female presented with a distended abdomen and fatigue. On physical examination, prominent splenomegaly was found. The laboratory investigations revealed pancytopenia and decreased albumin-globulin ratio. The abdominal ultrasonography revealed splenomegaly, cholelithiasis, and cystitis, and the bone survey showed osteopenia. Differential diagnoses included leukemia, multiple myeloma, and myelofibrosis therefore bone marrow puncture was performed. However, histopathologic examination found Gaucher-like cells in the bone marrow aspiration. The finding of CD68 positivity in Gaucher-like cells by using the immunohistochemistry staining supporting Gaucher disease. To confirm the diagnosis, an examination of glucocerebroside substrate from the patient's blood plasma was performed. Glucosylsphingosine, a deacylated form of glucosylceramide, was markedly elevated. Therefore, the diagnosis of Gaucher disease was confirmed. This is the first reported adult Gaucher case diagnosed in Indonesia.
Topics: Adult; Female; Humans; Gaucher Disease; Splenomegaly; Indonesia; Pancytopenia; Diagnosis, Differential
PubMed: 38561877
DOI: No ID Found -
Cureus Feb 2024Hypothyroidism presents various symptoms, ranging from commonly observed signs, such as fatigue, cold sensation, and constipation, to rare features, such as rash and...
Hypothyroidism presents various symptoms, ranging from commonly observed signs, such as fatigue, cold sensation, and constipation, to rare features, such as rash and pancytopenia, resembling certain rheumatological and hematological diseases. Chronic, excessive iodine consumption causes primary hypothyroidism. However, when iodine overconsumption becomes a regular part of daily dietary habits, it becomes difficult for patients to associate their symptoms with daily iodine consumption. Therefore, clinicians cannot obtain information on excessive iodine intake from the patient. Here, we present a case of hypothyroidism that was subsequently identified as caused by excessive dairy seaweed consumption for health purposes. This case report highlights the importance of a detailed dietary history in patients diagnosed with primary hypothyroidism without thyroid autoantibodies.
PubMed: 38558700
DOI: 10.7759/cureus.55231 -
Case Reports in Women's Health Mar 2024Systemic lupus erythematosus is an autoimmune disease that primarily affects women of reproductive age. In pregnancy, it can lead to maternal and fetal complications....
Systemic lupus erythematosus is an autoimmune disease that primarily affects women of reproductive age. In pregnancy, it can lead to maternal and fetal complications. However, diagnosis in pregnancy is challenging since the disease mimics many features associated with other disorders and some complications related to pregnancy. Here we report a 24-year-old woman at 26 weeks gestation who presented with a fever of unknown origin. She developed tachycardia, nausea, fatigue, rigors, and pancytopenia. Once sepsis and other chronic conditions were ruled out, rheumatology was consulted. Following the diagnosis of systemic lupus erythematosus, a combination of hydroxychloroquine, azathioprine, and corticosteroids was started, and the patient showed rapid improvement. She had an uncomplicated delivery at term. This case report highlights a unique presentation of new-onset systemic lupus erythematous in pregnancy. Delay in diagnosis can lead to maternal and fetal complications; however, prompt diagnosis and treatment can improve symptoms and lead to a favorable pregnancy outcome.
PubMed: 38550902
DOI: 10.1016/j.crwh.2024.e00595 -
Clinical Case Reports Apr 2024Fanconi anemia with Mitomycin C sensitivity is a rare, complex hematological condition. Our case study emphasizes the significance of early diagnosis, appropriate...
KEY CLINICAL MESSAGE
Fanconi anemia with Mitomycin C sensitivity is a rare, complex hematological condition. Our case study emphasizes the significance of early diagnosis, appropriate genetic testing, and cautious use of chemotherapeutic agents.
ABSTRACT
Fanconi anemia (FA) is a rare genetic disorder characterized by bone marrow failure, congenital anomalies, and predisposition to cancer. Here, we present the case of a 6-year-old boy with a known diagnosis of Fanconi anemia who exhibited sensitivity to Mitomycin C. The patient had a history of recurrent blood transfusions due to anemia and was referred to our institution following worsening symptoms, including pallor, swelling in limbs, and respiratory distress. Physical examination revealed characteristic features of FA such as mesomelia, low-set ears, hyperpigmented macules, microcephaly, micropthalmos, and thumb hypoplasia. Imaging studies demonstrated bilateral radial hypoplasia and congenital agenesis of the left kidney. Laboratory investigations revealed pancytopenia, aberrant liver function tests, and elevated inflammatory markers. Importantly, the patient exhibited sensitivity to Mitomycin C, highlighting the necessity for caution in selecting chemotherapeutic agents in FA patients. This case underscores the importance of early recognition, comprehensive evaluation, and tailored management strategies of patients with Fanconi anemia to optimize outcomes and minimize complications.
PubMed: 38550724
DOI: 10.1002/ccr3.8711 -
Cureus Feb 2024Infective endocarditis (IE) is a widespread condition marked by the infection of native or prosthetic heart valves, the endocardial surface, or an indwelling cardiac...
Infective endocarditis (IE) is a widespread condition marked by the infection of native or prosthetic heart valves, the endocardial surface, or an indwelling cardiac device. While native-valve IE is uncommon, patients with IE represent a diverse spectrum. Some respond well to treatment with few complications, while others face severe complications and an increased risk of mortality. Various factors contribute to this outcome, including delayed diagnosis, underlying health conditions like immunocompromised status or chronic diseases, and intravenous drug use. The most prevalent causes of IE are typically streptococci and staphylococci. IE attributed to species is an exceptionally rare phenomenon, especially in individuals lacking conventional risk factors. This report presents a distinctive case involving endocarditis in a 63-year-old female with a medical history encompassing intracranial aneurysm, hypothyroidism, and alcoholic cirrhosis. The patient's initial symptoms included shortness of breath, neck pain, and generalized weakness. Despite an initial focus on mild flu-like symptoms and a suspected urinary tract infection, subsequent evaluation unveiled pancytopenia and positive blood cultures for , culminating in the diagnosis of mitral valve endocarditis. This intricate clinical scenario, replete with numerous complications, underscores the significance of considering unusual pathogens in atypical presentations of IE. It prompts further exploration into the underlying mechanisms contributing to such infrequent occurrences.
PubMed: 38544627
DOI: 10.7759/cureus.54970