scholarly journals Abnormalities in subsets of B and T cells in Mexican patients with inborn errors of propionate metabolism: observations from a single-center case series

2021 ◽  
Vol 49 (1) ◽  
pp. 101-106
Author(s):  
E.A. Medina-Torrez ◽  
M Vela-Amieva ◽  
L Galindo-Campos ◽  
I Ibarra-González ◽  
S Espinosa-Padilla ◽  
...  
Keyword(s):  
Metabolic Diseases ◽  
Biological Fluids ◽  
Case Series ◽  
Erythroid Cell ◽  
Inborn Errors ◽  
Immune Biomarkers ◽  
Increased Risk ◽  
Life Threatening ◽  
Acute Metabolic Acidosis ◽  
Immunological Abnormalities

Background: Propionate inborn errors of metabolism (PIEM), including propionic (PA) and methylmalonic (MMA) acidemias, are inherited metabolic diseases characterized by toxic accumulation of propionic, 3-hydroxypropionic, methylcitric, and methylmalonic organic acids in biological fluids, causing recurrent acute metabolic acidosis events and encephalopathy, which can lead to fatal outcomes if managed inadequately. PIEM patients can develop hematological abnormalities and immunodeficiency, either as part of the initial clinical presentation or as chronic complications. The origin and characteristics of these abnormalities have been studied poorly. Thus, the aim of the present work was to evaluate and describe lymphoid, myeloid, and erythroid cell population profiles in a group of clinically stable PIEM patients. Methods: This was a retrospective study of 11 nonrelated Mexican PIEM patients. Clinical, biochemical, nutritional, hematological, and lymphocyte subsets were analyzed. Results: Despite being considered clinically stable, 91% of patients had hematological or immunological abnormalities. The absolute lymphocyte subset counts were low in all patients but one, with CD4+ T-cell lymphopenia, being the most common one. Furthermore, of the 11 studied subjects, nine presented with a low CD4/CD8 ratio. Among the observed hematological alterations, bicytopenia was the most common (82%) one, followed by anemia (27%). Conclusion: Our results contribute to the landscape of immunological abnormalities observed previously in PIEM patients; these abnormalities can become a life-threatening chronic com-plications because of the increased risk of opportunistic diseases. These findings allow us to propose the inclusion of monitoring immune biomarkers, such as subsets of lymphocytes in the follow up of PIEM patients.

Thromboembolism in Dogs with Protein-Losing Enteropathy with Non-Neoplastic Chronic Small Intestinal Disease

2017 ◽  
Vol 53 (3) ◽  
pp. 185-192 ◽  
Author(s):  
Ana M. L. Jacinto ◽  
Alison E. Ridyard ◽  
Itamar Aroch ◽  
Penny J. Watson ◽  
Linda R. Morrison ◽  
...  
Keyword(s):  
Serum Magnesium ◽  
Splenic Vein ◽  
Case Series ◽  
Intestinal Disease ◽  
Protein Losing Enteropathy ◽  
Vein Thrombosis ◽  
Increased Risk ◽  
Life Threatening ◽  
Small Intestinal ◽  
Small Intestinal Disease

ABSTRACT Dogs with protein-losing enteropathy (PLE) are suggested to be at increased risk of developing thromboembolic events. However, with some exceptions, there are very few reports of thromboembolism in such dogs. This multicentre retrospective observational study describes a case series of thromboembolism (TE) in eight dogs with PLE secondary to non-neoplastic, chronic small intestinal disease. Seven dogs had poorly controlled PLE when the thromboembolic event occurred. Pulmonary thromboembolism (PTE) occurred in six dogs, while one dog developed splenic vein thrombosis and another had concurrent splenic vein and aortic TE. Six dogs died, all with PTE. Antithrombin activity was decreased in one of two dogs in which it was measured. Serum cobalamin and folate concentrations were measured in three dogs and cobalamin was subnormal in all three. Serum magnesium, measured in two dogs, was low in both. Dogs with uncontrolled chronic small intestinal disease and PLE are at risk for developing serious life-threatening TE, mostly PTE.

scholarly journals The Role of Patiromer in Delaying the Onset of Renal Replacement Therapy in Patients with Advanced Renal Failure

2021 ◽  
Vol 2021 ◽  
pp. 1-7
Author(s):  
Nand K. Wadhwa ◽  
Jason A. Kline ◽  
Sreedhar R. Adapa
Keyword(s):  
Chronic Kidney Disease ◽  
Renal Failure ◽  
Case Series ◽  
Cardiovascular Morbidity And Mortality ◽  
Increased Risk ◽  
Stage 4 ◽  
Initiation Of Dialysis ◽  
Life Threatening ◽  
Potassium Binding

Patients with chronic kidney disease (CKD) are at an increased risk of developing hyperkalemia, which can be potentially life threatening. Hyperkalemia is frequently encountered with renin-angiotensin-aldosterone system inhibitor (RAASi) therapy use in patients with CKD and often results in the underdosing or discontinuation of these drugs. RAASi therapy has been proven to delay the progression of CKD, ameliorate proteinuria, and reduce the overall risk of cardiovascular morbidity and mortality. Patiromer is a sodium-free, potassium-binding polymer used for the treatment of hyperkalemia. We present a case series of four patients with Stage 4 or 5 CKD in whom the initiation of dialysis was delayed with the use of patiromer. For one patient, dialysis was delayed by 18 months, whereas the remaining three patients, in whom hyperkalemia was one of the main complications, remain dialysis independent to date.

Dental Implant Placement in Patients with a History of Medications Related to Osteonecrosis of the Jaws: A Systematic Review

2020 ◽  
Author(s):  
Judd Sher ◽  
Kate Kirkham-Ali ◽  
Denny Luo ◽  
Catherine Miller ◽  
Dileep Sharma
Keyword(s):  
Systematic Review ◽  
At Risk ◽  
Drug Therapy ◽  
Dental Implant ◽  
Case Series ◽  
Cochrane Central Register ◽  
Bisphosphonate Treatment ◽  
Implant Placement ◽  
Increased Risk ◽  
History Of

The present systematic review evaluates the safety of placing dental implants in patients with a history of antiresorptive or antiangiogenic drug therapy. The Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines were followed. PubMed, Cochrane Central Register of Controlled Trials, Scopus, Web of Science, and OpenGrey databases were used to search for clinical studies (English only) to July 16, 2019. Study quality was assessed regarding randomization, allocation sequence concealment, blinding, incomplete outcome data, selective outcome reporting, and other biases using a modified Newcastle-Ottawa scale and the Joanna Briggs Institute critical appraisal checklist for case series. A broad search strategy resulted in the identification of 7542 studies. There were 28 studies reporting on bisphosphonates (5 cohort, 6 case control, and 17 case series) and one study reporting on denosumab (case series) that met the inclusion criteria and were included in the qualitative synthesis. The quality assessment revealed an overall moderate quality of evidence among the studies. Results demonstrated that patients with a history of bisphosphonate treatment for osteoporosis are not at increased risk of implant failure in terms of osseointegration. However, all patients with a history of bisphosphonate treatment, whether taken orally for osteoporosis or intravenously for malignancy, appear to be at risk of ‘implant surgery-triggered’ MRONJ. In contrast, the risk of MRONJ in patients treated with denosumab for osteoporosis was found to be negligible. In conclusion, general and specialist dentists should exercise caution when planning dental implant therapy in patients with a history of bisphosphonate and denosumab drug therapy. Importantly, all patients with a history of bisphosphonates are at risk of MRONJ, necessitating this to be included in the informed consent obtained prior to implant placement. The James Cook University College of Medicine and Dentistry Honours program and the Australian Dental Research Foundation Colin Cormie Grant were the primary sources of funding for this systematic review.

Acute hepatic porphyrias for the neurologist: current concepts and perspectives

2021 ◽  
Author(s):  
Paulo Victor Sgobbi de Souza ◽  
Bruno de Mattos Lombardi Badia ◽  
Igor Braga Farias ◽  
Eduardo Augusto Gonçalves ◽  
Wladimir Bocca Vieira de Rezende Pinto ◽  
...  
Keyword(s):  
Central Nervous System Involvement ◽  
Therapeutic Interventions ◽  
Inborn Errors ◽  
Intravenous Glucose ◽  
Inherited Metabolic Disorders ◽  
Life Threatening ◽  
Acute Porphyrias ◽  
Diagnostic Work ◽  
Atypical Presentations ◽  
Interfering Rna

ABSTRACT Background: Acute hepatic porphyrias represent an expanding group of complex inherited metabolic disorders due to inborn errors of metabolism involving heme biosynthesis. Objective: We aimed to review the main clinical and therapeutic aspects associated with acute hepatic porphyrias. Methods: The authors provided a wide non-systematic review of current concepts and recently acquired knowledge about acute hepatic porphyrias. Results: Acute neurovisceral attacks are the most common and life-threatening presentation of this group and are often considered the main clinical manifestation by clinicians during differential diagnosis and the start of proper diagnostic work-up for acute porphyrias. However, atypical presentations with central nervous system involvement, neuropsychiatric disturbances, and some subtypes with photosensitivity usually make the definite diagnosis difficult and late. Early therapeutic interventions are essential during emergency treatment and intercritical periods to avoid recurrent severe presentations. The availability of new disease-modifying therapeutic proposals based on small interfering RNA (siRNA)-based therapies, complementary to the classic intravenous glucose infusion and hemin-based treatments, emphasizes the importance of early diagnosis and genetic counseling of patients. Conclusions: This review article highlights the main biochemical, pathophysiological, clinical, and therapeutic aspects of acute hepatic porphyrias in clinical practice.

scholarly journals Death Rate Due to COVID-19 in Alzheimer’s Disease and Frontotemporal Dementia

2020 ◽  
Vol 78 (2) ◽  
pp. 537-541
Author(s):  
Jordi A. Matias-Guiu ◽  
Vanesa Pytel ◽  
Jorge Matías-Guiu
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Frontotemporal Dementia ◽  
Death Rate ◽  
Case Series ◽  
Care Homes ◽  
Relevant Factor ◽  
Increased Risk ◽  
Care Facilities ◽  
Probability Of Death

We aimed to evaluate the frequency and mortality of COVID-19 in patients with Alzheimer’s disease (AD) and frontotemporal dementia (FTD). We conducted an observational case series. We enrolled 204 patients, 15.2% of whom were diagnosed with COVID-19, and 41.9% of patients with the infection died. Patients with AD were older than patients with FTD (80.36±8.77 versus 72.00±8.35 years old) and had a higher prevalence of arterial hypertension (55.8% versus 26.3%). COVID-19 occurred in 7.3% of patients living at home, but 72.0% of those living at care homes. Living in care facilities and diagnosis of AD were independently associated with a higher probability of death. We found that living in care homes is the most relevant factor for an increased risk of COVID-19 infection and death, with AD patients exhibiting a higher risk than those with FTD.

scholarly journals Case Series of Three Patients with Rifampicin-Induced Thrombocytopenia

2020 ◽  
Author(s):  
Chandramouli M.T
Keyword(s):  
Pulmonary Tuberculosis ◽  
Adverse Reactions ◽  
Rare Complication ◽  
Case Series ◽  
Tuberculosis Treatment ◽  
Effective Drug ◽  
Antitubercular Drugs ◽  
Short Course ◽  
Life Threatening

AbstractLife-threatening adverse reactions of antitubercular drugs are uncommon; however, thrombocytopenia is one such rare complication encountered with rifampicin, isoniazid, ethambutol, and pyrazinamide. Rifampicin is the most effective drug and its use in the tuberculosis treatment led to the emergence of modern and effective short-course regimens. I am reporting case series of three patients with pulmonary tuberculosis presented with rifampicin-induced thrombocytopenia.

scholarly journals Treatment and therapeutic strategies for pituitary apoplexy in pregnancy: a case series

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Yuya Kato ◽  
Yoshikazu Ogawa ◽  
Teiji Tominaga
Keyword(s):  
Pituitary Apoplexy ◽  
Clinical Symptoms ◽  
Case Series ◽  
Optimal Timing ◽  
Presenting Symptoms ◽  
Pathological Evaluation ◽  
Mother And Child ◽  
Life Threatening ◽  
In Pregnancy

Abstract Background Pregnancy is a known risk factor for pituitary apoplexy, which is life threatening for both mother and child. However, very few clinical interventions have been proposed for managing pituitary apoplexy in pregnancy. Case presentation We describe the management of three cases of pituitary apoplexy during pregnancy and review available literature. Presenting symptoms in our case series were headache and/or visual disturbances, and the etiology in all cases was hemorrhage. Conservative therapy was followed until 34 weeks of gestation, after which babies were delivered by cesarean section with prophylactic bolus hydrocortisone supplementation. Tumor removal was only electively performed after delivery using the transsphenoidal approach. All three patients and their babies had a good clinical course, and postoperative pathological evaluation revealed that all tumors were functional and that they secreted prolactin. Conclusions Although the mechanism of pituitary apoplexy occurrence remains unknown, the most important treatment strategy for pituitary apoplexy in pregnancy remains adequate hydrocortisone supplementation and frequent hormonal investigation. Radiological follow-up should be performed only if clinical symptoms deteriorate, and optimal timing for surgical resection should be discussed by a multidisciplinary team that includes obstetricians and neonatologists.

scholarly journals Macrophage Activation Syndrome in Adults: A Retrospective Case Series

2021 ◽  
Vol 9 ◽  
pp. 232470962110264
Author(s):  
Taylor Warmoth ◽  
Malvika Ramesh ◽  
Kenneth Iwuji ◽  
John S. Pixley
Keyword(s):  
Macrophage Activation Syndrome ◽  
Macrophage Activation ◽  
Pediatric Patients ◽  
Inflammatory Diseases ◽  
Systemic Juvenile Idiopathic Arthritis ◽  
Case Series ◽  
Adult Patients ◽  
Retrospective Case ◽  
Life Threatening ◽  
Activation Syndrome

Macrophage activation syndrome (MAS) is a form of hemophagocytic lymphohistocytosis that occurs in patients with a variety of inflammatory rheumatologic conditions. Traditionally, it is noted in pediatric patients with systemic juvenile idiopathic arthritis and systemic lupus erythematous. It is a rapidly progressive and life-threatening syndrome of excess immune activation with an estimated mortality rate of 40% in children. It has become clear recently that MAS occurs in adult patients with underlying rheumatic inflammatory diseases. In this article, we describe 6 adult patients with likely underlying MAS. This case series will outline factors related to diagnosis, pathophysiology, and review present therapeutic strategies.

scholarly journals NCMP-17. MISMATCH REPAIR MUTATIONS AND THE CENTRAL NERVOUS SYSTEM: A CASE SERIES OF GERMLINE MUTATIONS AND CNS MALIGNANCY

2020 ◽  
Vol 22 (Supplement_2) ◽  
pp. ii126-ii126
Author(s):  
Amber Ruiz ◽  
Jerome Graber
Keyword(s):  
Treatment Response ◽  
Mismatch Repair ◽  
Case Series ◽  
Germline Mutations ◽  
Molecular Characteristics ◽  
Loss Of Function ◽  
Dna Mismatch ◽  
Mutational Burden ◽  
Increased Risk ◽  
Tumor Mutational Burden

Abstract Our understanding of genetic predispositions for malignancy is continually evolving. One family of germline mutations well described in the literature is that of the DNA mismatch repair mechanism (MMR). Lynch syndrome (LS) is due to a loss of function mutation of several MMR genes- MSH2, MLH1, MSH6, and PMS2. Germline MMR mutations lead to microsatellite instability and loss of genomic integrity resulting in an increased risk for various cancers (colorectal, genitourinary, etc). LS may be as common as 1 in 400 people and some MMR mutations have been associated with gliomas. There is a paucity of information regarding frequency of glioma subtypes as well as tumor genetic and molecular characteristics which have important clinical implications. We describe a case series of 6 individuals with germline MMR mutations and brain tumors. Those with MSH2 and PMS2 mutations (n=3) developed glioblastomas at a mean age at diagnosis of 48 years. These tumors expressed MGMT hyper-methylation and high tumor mutational burden. Only one had IDH-1 mutation. Those with MLH1 mutations (n=3), did not develop gliomas. This raises the question of differential glioma subtype development based on MMR gene. It also highlights the possibility of Lynch-associated gliomas having more favorable treatment response due to MGMT methylation and potential response to immunotherapy based on high tumor mutational burden. Though the sample size is small, there appears to be a preponderance of women compared to men (5:1 respectively). Larger studies are needed to verify CNS involvement in germline MMR mutations. In doing so, we hope to identify factors that may influence clinical management and lead to a better understanding of treatment response and disease prognosis.

scholarly journals Autoimmune Hemolytic Anemia as a Complication of Congenital Anemias. A Case Series and Review of the Literature

2021 ◽  
Vol 10 (15) ◽  
pp. 3439
Author(s):  
Irene Motta ◽  
Juri Giannotta ◽  
Marta Ferraresi ◽  
Kordelia Barbullushi ◽  
Nicoletta Revelli ◽  
...  
Keyword(s):  
Hemolytic Anemia ◽  
Autoimmune Hemolytic Anemia ◽  
Case Series ◽  
Intravenous Immunoglobulins ◽  
Point Of View ◽  
First Line ◽  
Human Erythropoietin ◽  
Immune Mediated ◽  
Hemolytic Crisis ◽  
Life Threatening

Congenital anemias may be complicated by immune-mediated hemolytic crisis. Alloantibodies are usually seen in chronically transfused patients, and autoantibodies have also been described, although they are rarely associated with overt autoimmune hemolytic anemia (AIHA), a serious and potentially life-threatening complication. Given the lack of data on the AIHA diagnosis and management in congenital anemias, we retrospectively evaluated all clinically relevant AIHA cases occurring at a referral center for AIHA, hemoglobinopathies, and chronic hemolytic anemias, focusing on clinical management and outcome. In our cohort, AIHA had a prevalence of 1% (14/1410 patients). The majority were warm AIHA. Possible triggers were recent transfusion, infection, pregnancy, and surgery. All the patients received steroid therapy as the first line, and about 25% required further treatment, including rituximab, azathioprine, intravenous immunoglobulins, and cyclophosphamide. Transfusion support was required in 57% of the patients with non-transfusion-dependent anemia, and recombinant human erythropoietin was safely administered in one third of the patients. AIHA in congenital anemias may be challenging both from a diagnostic and a therapeutic point of view. A proper evaluation of hemolytic markers, bone marrow compensation, and assessment of the direct antiglobulin test is mandatory.

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