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BMJ Open Aug 2022To form a James Lind Alliance (JLA) Priority Setting Partnership (PSP) to determine research priorities related to the cause, diagnosis, treatment and management of...
OBJECTIVES
To form a James Lind Alliance (JLA) Priority Setting Partnership (PSP) to determine research priorities related to the cause, diagnosis, treatment and management of pernicious anaemia (PA) from the perspectives of patients, carers and clinicians.
DESIGN
The PSP conducted two surveys and a workshop to identify the Top 10 questions for research. A first survey identified questions relating to the cause, diagnosis, treatment and management of PA. A literature search checked whether any of these questions had already been answered. A second survey asked respondents to identify and rank their top 10 questions from the list of questions from the first survey. An online workshop used an adapted nominal group technique to agree a final Top 10.
RESULTS
In the first survey, 933 people submitted 3480 responses that were categorised and summarised to generate a long list of 40 questions. None had been answered by previous research. The combined rankings from the 1068 patients, carers and clinicians who took part in the second survey identified a short list of 16 questions. These were discussed at the final workshop to agree the final Top 10. The number one question was about an accurate and reliable diagnostic test for PA. The other nine questions were about making treatment safe and effective, understanding why people with PA vary in their need for treatment, links to other conditions, and how to encourage clinicians to take PA seriously and provide long-term care.
CONCLUSIONS
This JLA PSP enabled patients, carers and clinicians to work together to agree the Top 10 uncertainties relating to the cause, diagnosis, management and treatment of PA. Addressing any of these questions will greatly benefit the end-users of research, the people whose daily lives and decisions will be directly affected by generating high quality research evidence.
Topics: Anemia, Pernicious; Biomedical Research; Caregivers; Health Priorities; Humans; Surveys and Questionnaires
PubMed: 36002205
DOI: 10.1136/bmjopen-2022-065166 -
Andes Pediatrica : Revista Chilena de... Jun 2022In infants, vitamin B12 deficiency is mainly due to nutritional deficiencies related to maternal deficit. Most cases of maternal deficiencies are associated with...
INTRODUCTION
In infants, vitamin B12 deficiency is mainly due to nutritional deficiencies related to maternal deficit. Most cases of maternal deficiencies are associated with vegetarian diets. Pernicious anemia is an au toimmune disease that affects the absorption of this vitamin. Although it is less common than nutri tional deficiency, is also an important cause of maternal deficiency.
OBJECTIVE
to report a case of an infant with vitB12 deficiency, secondary to pernicious anemia in his mother, and to review the most important aspects of this disease in childhood.
CLINICAL CASE
Nine months-old male infant, without pathological perinatal history, exclusively breastfed, with persistent rejection of solid food from 6 months of age. One month before hospitalization, he progressively presented hyporesponsiveness, with fluctuating state of alertness, regression of motor development milestones, and vomiting. The blood count showed macrocytic anemia and neutropenia. Vitamin B12 deficiency was confirmed in the patient. He received treatment with intramuscular vitamin B12 with good clinical and laboratory response. Maternal B12 deficiency was confirmed as the cause of the infant's deficiency. Since the mother reported no dietary restrictions, anti-intrinsic factor and anti-parietal cell antibodies were measured, leading to the diagnosis of pernicious anemia.
CONCLUSIONS
Early recognition is essential to prevent the development of potentially irreversible neurological damage. Maternal pernicious ane mia should be considered in children with megaloblastic anemia, especially in those whose mothers do not follow vegetarian diets.
Topics: Anemia, Megaloblastic; Anemia, Pernicious; Child; Female; Humans; Infant; Male; Mothers; Pregnancy; Vitamin B 12; Vitamin B 12 Deficiency
PubMed: 35857012
DOI: 10.32641/andespediatr.v93i3.3506 -
EJHaem Nov 2021
PubMed: 35845204
DOI: 10.1002/jha2.281 -
Frontiers in Immunology 2022Autoimmune gastritis (AIG) and Primary Sjögren's syndrome (pSS) are both autoimmune diseases with low prevalence in China. Subacute combined degeneration (SCD) of the... (Review)
Review
Coexistence of Primary Sjögren's Syndrome and Autoimmune Gastritis With Pernicious Anemia and Subacute Combined Degeneration of the Spinal Cord: Case Report and Literature Review.
BACKGROUND
Autoimmune gastritis (AIG) and Primary Sjögren's syndrome (pSS) are both autoimmune diseases with low prevalence in China. Subacute combined degeneration (SCD) of the spinal cord is the most common neurological manifestation of vitamin B12 deficiency. Until now, a patient with pSS and complications of AIG including SCD has not been reported.
CASE PRESENTATION
A 69-year-old woman presented with palpitations and symmetrical and progressive numbness in her hands and feet. The patient had a sense of stepping on cotton and could not write or walk without help. We reviewed the patient's history and analyzed her blood tests, imaging, gastroscopic findings, and pathological results. The patient fulfilled the criteria of AIG, pSS, spinal cord SCD and early pernicious anemia (PA) simultaneously. Although pSS can lead to reduction of vitamin B12, this is the first overlapping case of pSS with spinal cord SCD. After symptomatic treatment, the patient returned to a normal life.
CONCLUSIONS
This first report about the coexistence of pSS and complications of AIG including SCD and PA will promote a better understanding of the relationship between these diseases.
Topics: Aged; Anemia, Pernicious; Female; Gastritis; Humans; Sjogren's Syndrome; Subacute Combined Degeneration
PubMed: 35812371
DOI: 10.3389/fimmu.2022.908528 -
Cureus May 2022The association between malignancies and autoimmunity had been well-established. The proposed pathophysiology and causality can be bidirectional. For example, a...
The association between malignancies and autoimmunity had been well-established. The proposed pathophysiology and causality can be bidirectional. For example, a paraneoplastic syndrome can be triggered by an underlying malignancy or vice versa, where chronic inflammation of organs affected by autoimmunity can induce malignant transformation such as the case with inflammatory bowel disease and colorectal cancer or primary sclerosing cholangitis and hepatobiliary cancer. This report presents a case of autoimmune phenomena, namely, autoimmune hemolytic anemia, pernicious anemia, and Graves disease associated with newly diagnosed breast cancer. We also highlight the postulated pathophysiologic mechanisms in an attempt to answer the question of whether the occurrence of these autoimmune phenomena in our patient is a result of the law of parsimony (Occam's razor), where clinical variables are pathogenically related, or the counterargument, where random events and diseases can take place simultaneously (Hickam's dictum).
PubMed: 35800793
DOI: 10.7759/cureus.25511 -
Frontiers in Medicine 2022Chronic autoimmune gastritis (CAG) refers to chronic atrophic gastritis due to autoimmunity. Loss of gastric glands in CAG results in hypergastrinemia and achlorhydria...
BACKGROUND
Chronic autoimmune gastritis (CAG) refers to chronic atrophic gastritis due to autoimmunity. Loss of gastric glands in CAG results in hypergastrinemia and achlorhydria leading to Vitamin B deficiency and hyperplasia of G cells and enterochromaffin-like (ECL) cells. Vitamin B deficiency could cause pernicious anemia and subacute combined degeneration, while G cells and ECL cells hyperplasia might develop gastric neuroendocrine tumor (G-NET).
CASE PRESENTATION
A 35-year-old Chinese female presented with multi-focal type-1 Grade 2 (G2) NETs with a 14-year history of pernicious anemia and subacute combined degeneration.
CONCLUSION
Here, we report a rare case of a Chinese patient presenting G-NET combined with pernicious anemia and subacute combined degeneration, which are secondary to chronic autoimmune gastritis. This case also illustrates the importance of routine gastroscopy in patients with Vitamin B deficiency.
PubMed: 35783638
DOI: 10.3389/fmed.2022.856125 -
Medicine Jul 2022Autoimmune gastritis causing both subacute combined degeneration of the spinal cord and pernicious anemia is rare in clinical practice. Here, we report a case of...
INTRODUCTION
Autoimmune gastritis causing both subacute combined degeneration of the spinal cord and pernicious anemia is rare in clinical practice. Here, we report a case of subacute combined degeneration of the spinal cord and pernicious anemia resulting from vitamin B12 deficiency due to autoimmune gastritis.
PATIENT CONCERNS
A 66-year-old woman presented with a 2-month history of numbness in her extremities.
DIAGNOSES
The diagnoses were (1) autoimmune gastritis (2) subacute combined degeneration of the spinal cord (3) pernicious anemia (4) hypergastrinemia (5) chronic lymphocytic thyroiditis.
INTERVENTIONS
The patient received intramuscular methylcobalamin treatment for 5 days, followed by oral methylcobalamin daily.Outcomes: Symptoms improved, and anemia recovered in the second month after discharge. She discontinued her medication afterward, and the neurological symptoms recurred.
CONCLUSIONS
Autoimmune gastritis can lead to several diseases if not intervened in the early course. Neuropathy and hematopathy recur with treatment discontinuity. Methylcobalamin and adenosylcobalamin are unlikely to be more effective than vitamin B12.
Topics: Aged; Anemia, Pernicious; Female; Gastritis; Humans; Subacute Combined Degeneration; Vitamin B 12 Deficiency
PubMed: 35777065
DOI: 10.1097/MD.0000000000029226 -
Frontiers in Public Health 2022The COVID-19 pandemic has a serious impact on the mental health of the public due to its economic and social impact. And psychological effects have led to drug and... (Observational Study)
Observational Study
BACKGROUND
The COVID-19 pandemic has a serious impact on the mental health of the public due to its economic and social impact. And psychological effects have led to drug and alcohol abuse. After the city lifted the lockdown, we consecutively encountered several young nitrous oxide abusers admitted to hospital for neurological treatment.
PURPOSE
To inform physician decisions and social intervention, this observational study aimed at investigating the neurological and psychological characteristics of nitrous oxide abusers and its underlying causes during the COVID-19 lockdown.
METHODS
The nitrous oxide abusers who sought neurological treatment at our hospital between May 2020 and June 2020 were enrolled. Clinical data including socio-demographic, physical examination, laboratory examination, electromyography and neuroimaging were collected. Their motivations for inhaling nitrous oxide, knowledge about the nitrous oxide abuse and the accompanying of family were investigated face to face. Psychological status was assessed by the Symptom Checklist 90 (SCL-90) psychological evaluation.
RESULTS
Six nitrous oxide abusers were enrolled and the age was 22 ± 4.3. Clinical presentations included varying degrees of limb numbness and an ataxic gait. Laboratory examination revealed that all the patients did not have pernicious anemia, 4 patients had decreased vitamin B12 while 3 patients exhibited elevated homocysteine levels. MR of the spinal cord revealed that 4 patients had abnormal signals in the cervical spinal cord of high symmetry with splayed or inverted V sign after T2WI. Electromyogram (EMG) test showed 5 patients had peripheral nerve damage. The SCL-90 psychological evaluation results indicated that all patients had severe anxiety, depression and psychosis and they had severer psychological problems than ordinary citizens. Their motives for inhaling nitrous oxide are to relieve boredom, curiosity and buddy pressure. Their family spent <1 day per week to stay with them during city lockdown.
CONCLUSION
The enrolled patients caused by abuse of nitrous oxide presented with symptoms of subacute combined with spinal degeneration. They had more serious psychological problems related to the COVID-19 pandemic. These cases make us value the psychological problems of young people under the outbreak and take multi-layered measures from families, schools (companies), hospitals, and governments to address it.
Topics: Adolescent; COVID-19; Communicable Disease Control; Humans; Magnetic Resonance Imaging; Nitrous Oxide; Pandemics; Vitamin B 12
PubMed: 35719623
DOI: 10.3389/fpubh.2022.854977 -
Journal of Community Hospital Internal... 2022A 75-year-old male presented with lower back pain, bilateral lower extremity weakness, decreased sensation to vibration and proprioception in lower extremities, anemia,...
A 75-year-old male presented with lower back pain, bilateral lower extremity weakness, decreased sensation to vibration and proprioception in lower extremities, anemia, and vitamin B12 deficiency. The MRI of the lumbar spine revealed extensive leptomeningeal carcinomatosis. Subsequently, the patient was diagnosed with multiple myeloma (MM) and B12 deficiency with negative intrinsic factor antibodies. MM can present as extramedullary hematopoiesis (EM) to involve the central nervous system (CNS). CNS involvement is rare and develops in only around 1% of MM patients. It carries a poor prognosis with less than 6 months survival. MM is thought to be associated with both B12 deficiency and pernicious anemia. Some studies have even suggested B12 deficiency as a possible marker for worsening disease and a prognostic factor. In our patient's case, he had extensive CNS involvement at diagnosis of MM with very low B12 levels. The extent of his disease with extensive CNS involvement, which carries a poor prognosis, could possibly explain the very low levels of B12. This is the first reported case of a patient presenting with B12 deficiency found to have MM with leptomeningeal carcinomatosis at diagnosis. To the author's knowledge, there is no literature investigating association between B12 deficiency at the time of diagnosis of MM with CNS complications. Furthermore, there are no established guidelines on treatment for leptomeningeal myelomatosis. We present this case with the effort to learn more about this disease in terms of response and overall survival.
PubMed: 35711872
DOI: 10.55729/2000-9666.1011 -
Annals of Medicine and Surgery (2012) Jun 2022Autoimmune polyglandular syndrome 2(APS 2) is immune-mediated destruction that affects two or more endocrine glands and causes a constellation of multiple glands...
INTRODUCTION
Autoimmune polyglandular syndrome 2(APS 2) is immune-mediated destruction that affects two or more endocrine glands and causes a constellation of multiple glands insufficiencies.
CASE PRESENTATION
we reported a rare case 9 years old male diagnosed with APS 2; he had adrenal insufficiency three years ago due to leak adherence to hydrocortisone. He was admitted to the hospital for adrenal crises after hemodynamic stability; laboratory evaluation showed that he had Hashimoto's thyroiditis, celiac disease, and the glutamic acid decarboxylase antibody (GAD) Anti-islet cell antibodies were positive, so he was also predisposed to DM 1 later.
DISCUSSION
APS 2, also known as Schmidt's syndrome, is usually defined by the occurrence of the same fludrocortisone or more of the followings: primary adrenal insufficiency (Addison's disease), Grave's disease, primary hypothyroidism, type 1 diabetes mellitus, celiac disease, and pernicious anemia.
CONCLUSION
This case report underlines the importance of early recognition and treatment of acute endocrine diseases and the necessity to investigate pediatric patients with autoimmune diseases for coexisting conditions.
PubMed: 35600201
DOI: 10.1016/j.amsu.2022.103742