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Cureus Dec 2023Myoclonic epilepsy with ragged red fibers (MERRF) syndrome is a primary mitochondrial disorder characterized by myoclonus, epilepsy, ataxia, and muscle fiber...
Myoclonic epilepsy with ragged red fibers (MERRF) syndrome is a primary mitochondrial disorder characterized by myoclonus, epilepsy, ataxia, and muscle fiber abnormalities. While traditionally associated with neurological features, MERRF's multisystem nature extends to endocrine dysfunction, including diabetes mellitus, thyroid disorders, and adrenal abnormalities. This case report explores the multifaceted nature of MERRF syndrome by presenting the clinical journey of a 70-year-old woman who sought care at the endocrinology clinic due to coexisting Addison's disease and diabetes mellitus, marked by recurrent hypoglycemia and suboptimal metabolic control. Over time, she developed a history of myoclonic epilepsy, effectively managed with lamotrigine, along with mild sensory axonal polyneuropathy and ataxia. The patient was diagnosed with MERRF syndrome following her son's diagnosis, which had a severe form. This case underscores the intricate interplay between mitochondrial dysfunction and endocrine manifestations in MERRF syndrome, highlighting the importance of a comprehensive and multidisciplinary approach to patient care. MERRF syndrome's array of endocrine manifestations substantially impacts patients' quality of life and morbidity. A comprehensive approach, uniting endocrinologists, neurologists, geneticists, and other specialists, is essential for effective patient care. Further research is warranted to unravel the complex mitochondrial-endocrine interactions in MERRF syndrome, offering potential insights for improved management.
PubMed: 38274904
DOI: 10.7759/cureus.51114 -
Journal of Clinical Medicine Jan 2024Celiac disease (CD) is frequently associated with other autoimmune disorders. Different studies have explored the association between CD and single autoimmune endocrine...
Celiac disease (CD) is frequently associated with other autoimmune disorders. Different studies have explored the association between CD and single autoimmune endocrine disease (AED), especially autoimmune thyroiditis (AIT) and type-1 diabetes mellitus (T1DM). Data about CD as a component of autoimmune polyendocrine syndrome (APS) are scant. We analyzed a large dataset including prospectively collected data from 920 consecutive adult CD patients diagnosed in a third-level Italian institution in the 2013-2023 period, The prevalence of isolated autoimmune endocrine diseases and APS were collected. A total of 262 (28.5%) CD patients had at least one associated AED, with AIT (n = 223, 24.2%) and T1DM (n = 27, 2.9%) being the most frequent conditions. In most cases (n = 173, 66%), AEDs were diagnosed after CD. Thirteen patients (1.4%) had at least two of the requested three endocrinopathies, satisfying the diagnosis of type 2 APS. APS-2 is a rare but not exceptional occurrence among Italian CD patients, underscoring the intricate and multifaceted nature of autoimmune disorders. Periodic evaluations of thyroid function and glycaemia should be recommended after the diagnosis of CD together with testing for autoantibodies that may be helpful in assessing disease risk before disease onset. Likewise, implementation of a systematic screening for CD amongst T1DM and other autoimmune endocrine diseases are paramount.
PubMed: 38256623
DOI: 10.3390/jcm13020488 -
Biomedicines Jan 2024Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), or polyglandular autoimmune syndrome type 1 (PAS-1/APS-1), is a rare autosomal recessive... (Review)
Review
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), or polyglandular autoimmune syndrome type 1 (PAS-1/APS-1), is a rare autosomal recessive disorder linked to mutations in the autoimmune regulator (AIRE) gene. This review provides a detailed analysis of cutaneous manifestations in APECED, focusing on chronic mucocutaneous candidiasis (CMC), alopecia areata (AA), and vitiligo. The classic triad of hypoparathyroidism, adrenal insufficiency, and CMC serves as a diagnostic cornerstone. However, the varied clinical spectrum of APECED, particularly its cutaneous presentations, poses a diagnostic challenge. CMC, often an early sign, varies in prevalence across populations, including Finnish (100%), Irish (100%), Saudi Arabian (80%), Italian (60-74.7%), North American (51-86%), and Croatian (57.1%) populations. Similarly, AA prevalence varies in different populations. Vitiligo also exhibits variable prevalence across regions. The review synthesizes the current knowledge arising from a narrative analysis of 14 significant human studies published in English up to October 2023. Moreover, this paper underscores the importance of early detection and monitoring, emphasizing cutaneous manifestations as key diagnostic indicators. Ongoing research and clinical vigilance are crucial for unraveling the complexities of this rare autoimmune syndrome and enhancing patient care.
PubMed: 38255237
DOI: 10.3390/biomedicines12010132 -
Diabetologia Apr 2024This register-based study aimed to describe autoimmune comorbidity in children and young adults from type 1 diabetes onset, and to investigate whether such comorbidity...
AIMS/HYPOTHESIS
This register-based study aimed to describe autoimmune comorbidity in children and young adults from type 1 diabetes onset, and to investigate whether such comorbidity was associated with a difference in HbA or mortality risk compared with children/young adults with type 1 diabetes without autoimmune comorbidity.
METHODS
A total of 15,188 individuals from the Swedish National Diabetes Register, registered with type 1 diabetes before 18 years of age between 2000 and 2019, were included. Five randomly selected control individuals from the Swedish population (Statistics Sweden) were matched to each individual with type 1 diabetes (n=74,210 [346 individuals with type 1 diabetes were not found in the Statistics Sweden register at the date of type 1 diabetes diagnosis, so could not be matched to control individuals]). The National Patient Register was used to attain ICD-10 codes on autoimmune diseases and the Cause of Death Register was used to identify deceased individuals.
RESULTS
In the total type 1 diabetes cohort, mean±SD age at onset of type 1 diabetes was 9.5±4.4 years and mean disease duration at end of follow-up was 8.8±5.7 years. Of the individuals with type 1 diabetes, 19.2% were diagnosed with at least one autoimmune disease vs 4.0% of the control group. The HRs for comorbidities within 19 years from onset of type 1 diabetes were 11.6 (95% CI 10.6, 12.6) for coeliac disease, 10.6 (95% CI 9.6, 11.8) for thyroid disease, 1.3 (95% CI 1.1, 1.6) for psoriasis, 4.1 (95% CI 3.2, 5.3) for vitiligo, 1.7 (95% CI 1.4, 2.2) for rheumatic joint disease, 1.0 (95% CI 0.8, 1.3) for inflammatory bowel disease, 1.0 (95% CI 0.7, 1.2) for systemic connective tissue disorder, 1.4 (95% CI 1.1, 1.9) for uveitis, 18.3 (95% CI 8.4, 40.0) for Addison's disease, 1.8 (95% CI 0.9, 3.6) for multiple sclerosis, 3.7 (95% CI 1.6, 8.7) for inflammatory liver disease and 19.6 (95% CI 4.2, 92.3) for atrophic gastritis. Autoimmune disease in addition to type 1 diabetes had no statistically significant effect on HbA or mortality risk.
CONCLUSIONS/INTERPRETATION
To our knowledge, this is the first comprehensive study where young individuals with type 1 diabetes were followed regarding development of a wide spectrum of autoimmune diseases, from onset of type 1 diabetes. In this nationwide and population-based study, there was already a high prevalence of autoimmune diseases in childhood, especially coeliac and thyroid disease. The presence of autoimmune comorbidity did not have a statistically significant effect on metabolic control or mortality risk.
Topics: Child; Young Adult; Humans; Adolescent; Diabetes Mellitus, Type 1; Comorbidity; Autoimmune Diseases; Cause of Death; Thyroid Diseases; Sweden
PubMed: 38252314
DOI: 10.1007/s00125-024-06086-8 -
Zeitschrift Fur Kinder- Und... Jan 2024Case Report of a 14-Year-Old Girl with Addison's Disease Under Initial Presumptive Diagnosis of Anorexia Nervosa: Confusingly Similar and Yet so Different? Primary...
Case Report of a 14-Year-Old Girl with Addison's Disease Under Initial Presumptive Diagnosis of Anorexia Nervosa: Confusingly Similar and Yet so Different? Primary adrenal insufficiency (Addison's disease) is a rare differential diagnosis of anorexia nervosa. This case report presents important differential diagnostic aspects. We prepared a case report of a 14-year-old female patient according to the CARE guidelines, taking the patient's and the child's parents' view into consideration. The diagnosis of primary adrenocortical insufficiency was reached using specific laboratory diagnostics approximately 9 months after the onset of symptoms, including sudden body weight loss. Significant differential diagnostic aspects were the absence of a body schema disorder and skin hyperpigmentation prominent in the physical examination. The patient experienced a high psychosocial burden because of the unclear diagnosis over 9 months. The diagnosis and substitution therapy with hydrocortisone led to a rapid improvement of the physical and psychological symptoms. This case report emphasizes the importance of a thorough somatic differential diagnosis in the context of a suspected anorexia nervosa.
PubMed: 38221850
DOI: 10.1024/1422-4917/a000964 -
Nature Communications Jan 2024Periodontal disease is a significant burden for oral health, causing progressive and irreversible damage to the support structure of the tooth. This complex structure,...
Periodontal disease is a significant burden for oral health, causing progressive and irreversible damage to the support structure of the tooth. This complex structure, the periodontium, is composed of interconnected soft and mineralised tissues, posing a challenge for regenerative approaches. Materials combining silicon and lithium are widely studied in periodontal regeneration, as they stimulate bone repair via silicic acid release while providing regenerative stimuli through lithium activation of the Wnt/β-catenin pathway. Yet, existing materials for combined lithium and silicon release have limited control over ion release amounts and kinetics. Porous silicon can provide controlled silicic acid release, inducing osteogenesis to support bone regeneration. Prelithiation, a strategy developed for battery technology, can introduce large, controllable amounts of lithium within porous silicon, but yields a highly reactive material, unsuitable for biomedicine. This work debuts a strategy to lithiate porous silicon nanowires (LipSiNs) which generates a biocompatible and bioresorbable material. LipSiNs incorporate lithium to between 1% and 40% of silicon content, releasing lithium and silicic acid in a tailorable fashion from days to weeks. LipSiNs combine osteogenic, cementogenic and Wnt/β-catenin stimuli to regenerate bone, cementum and periodontal ligament fibres in a murine periodontal defect.
Topics: Animals; Mice; beta Catenin; Silicon; Porosity; Lithium; Silicic Acid; Nanowires; Dental Cementum
PubMed: 38216556
DOI: 10.1038/s41467-023-44581-5 -
Frontiers in Endocrinology 2023Familial Glucocorticoid Deficiency encompasses a broad spectrum of monogenic recessive disorders that theoretically solely abrogate cortisol biosynthesis. In reality,... (Review)
Review
Familial Glucocorticoid Deficiency encompasses a broad spectrum of monogenic recessive disorders that theoretically solely abrogate cortisol biosynthesis. In reality, delineating clear genotype-phenotype correlations in this disorder is made complicated by marked phenotypic heterogeneity even within kindreds harbouring identical variants. Phenotypes range from isolated glucocorticoid insufficiency to cortisol deficiency plus a variety of superimposed features including salt-wasting and hypoaldosteronism, primary hypothyroidism, hypogonadism and growth defects. Furthermore, mutation type, domain topology and perceived enzyme activity do not always predict disease severity. Given the high burden of disease and implications of a positive diagnosis, genetic testing is crucial in the management of patients warranting detailed delineation of genomic variants including viable functional studies.
Topics: Humans; Glucocorticoids; Hydrocortisone; Addison Disease; Thyroid Hormone Resistance Syndrome; Thyrotoxicosis
PubMed: 38189052
DOI: 10.3389/fendo.2023.1268345 -
Cureus Dec 2023Primary adrenal insufficiency (PAI), also known as Addison's disease (AD), is a condition resulting from adrenal gland diseases that lead to glucocorticoid and/or...
Primary adrenal insufficiency (PAI), also known as Addison's disease (AD), is a condition resulting from adrenal gland diseases that lead to glucocorticoid and/or mineralocorticoid deficiency, in addition to androgen deficiency in females. Here, we report a 40-year-old male indoor worker with an insignificant past medical history who presented to the dermatology clinic with a history of asymptomatic, slowly progressive skin hyperpigmentation for the past three years. It was associated with fatigue and weight loss. Skin examination revealed diffuse, non-scaly hyperpigmented patches on his face, dorsae of the hands, and palms. Early morning cortisol and adrenocorticotropic hormone (ACTH) serum levels were 1.00 µg/dl (5.0-19.4 µg/dl) and 2000 pg/mL (7.2-63.3 pg/mL), respectively. Based on the above clinical and laboratory findings, a diagnosis of AD was made. The patient was started on the following medications for 14 days: hydrocortisone 20 mg in divided doses (15 mg am/5 mg pm) and fludrocortisone 0.1 mg once daily (od). On the second visit, the patient's symptoms (both the cutaneous hyperpigmentation and fatigue) significantly improved, but he was complaining of edema in both upper and lower limbs, so the dose of fludrocortisone was reduced to 0.05 mg od.
PubMed: 38164302
DOI: 10.7759/cureus.49837 -
Frontiers in Endocrinology 2023
Editorial: Glucocorticoids and cognition: recent advances in understanding their interaction, with a particular focus on clinical applicability for the treating endocrinologist.
Topics: Humans; Glucocorticoids; Endocrinologists; Addison Disease; Hydrocortisone; Cognition
PubMed: 38155950
DOI: 10.3389/fendo.2023.1339165