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Journal of Ayub Medical College,... 2023Thiamine-responsive megaloblastic anaemia (TRMA) is characterized by the classic trio of diabetes mellitus, sensorineural hearing loss, and megaloblastic anaemia,...
Thiamine-responsive megaloblastic anaemia (TRMA) is characterized by the classic trio of diabetes mellitus, sensorineural hearing loss, and megaloblastic anaemia, typically emerging subtly between infancy and adolescence. Administration of high-dose thiamine often yields improvements in anaemia and occasionally in diabetes. Uncommon manifestations include optic atrophy, congenital heart defects, short stature, and stroke. In this specific case, a 5-year-old diagnosed with insulin-dependent diabetes mellitus (IDDM) since the age of one presented with symptoms such as polyuria, fever, and vomiting, revealing an HbA1c of 10.64. Further examinations disclosed compromised hearing and vision. A negative antibody workup and a thyroid profile indicating hypothyroidism prompted additional investigations, including Brainstem Evoked Response Audiometry (BERA) and retinal examination, confirming bilateral sensorineural hearing loss and maculopathy, respectively. A comprehensive blood count unveiled megaloblastic anaemia. Genetic profiling confirmed a homozygous mutation in the SLC19A2 gene, thus diagnosing TRMA. An early diagnosis, coupled with genetic confirmation, enables timely intervention, with patients responding positively to high-dose thiamine. Genetic counselling plays a pivotal role in enlightening families about the disease and its inheritance patterns, fostering awareness and understanding.
Topics: Humans; Child, Preschool; Thiamine Deficiency; Thiamine; Anemia, Megaloblastic; Hearing Loss, Sensorineural; Hypothyroidism; Diabetes Mellitus; Membrane Transport Proteins
PubMed: 38406914
DOI: 10.55519/JAMC-S4-12486 -
SAGE Open Medical Case Reports 2024Antenatal Bartter syndrome is a rare condition that affects approximately 1.2 individuals per million. It is caused by renal tubular dysfunction that impairs the...
Antenatal Bartter syndrome is a rare condition that affects approximately 1.2 individuals per million. It is caused by renal tubular dysfunction that impairs the reabsorption of sodium and chloride. This results in various symptoms such as polyuria, vomiting, dehydration, and failure to thrive. Because of its low prevalence, diagnosing this disorder can be challenging for medical professionals. In this report, we describe a rare case of a 3-month-old female infant who had symptoms of Bartter syndrome, such as severe hypotension, facial flattening, cough, and seizures. She also had the typical features of the condition, except for prematurity and hypercalciuria, which were not present. In this case, we highlight the importance of regular follow-ups and monitoring of patients with dehydration and electrolyte imbalances, as these can lead to complications in Bartter syndrome. Early intervention and close monitoring can enhance patient outcomes and avoid complications.
PubMed: 38379632
DOI: 10.1177/2050313X241233117 -
Access Microbiology 2024Coronavirus disease 2019 (COVID-19) has an important impact on the kidney through direct and indirect damage mechanisms. Most previous studies have highlighted lesions...
BACKGROUND
Coronavirus disease 2019 (COVID-19) has an important impact on the kidney through direct and indirect damage mechanisms. Most previous studies have highlighted lesions caused by this virus in the early segments of the nephron. However, due to the antigenic characteristics of the virus, with almost ubiquitous receptors, and the molecular release it triggers, the distal segments of the nephron could also be affected.
METHODS
A 71 year-old-man with respiratory failure while suffering from severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pneumonia presented with typical symptoms of diabetes insipidus after ~20 days of hospitalization. The water deprivation test led to the diagnosis of nephrogenic diabetes insipidus. The aetiological study was complex, in particular because of the patient's previous lithium therapy.
RESULTS
The sequence of pathognomonic events typical of diabetes insipidus associated with anamnestic, clinical and laboratory evidence strongly supported the diagnosis of nephrogenic diabetes insipidus due to SARS-CoV-2 rather than other aetiologies.
CONCLUSIONS
The collecting duct could represent a target for SARS-CoV-2 infection, directly or indirectly, as a result of lesions of upstream portions of the nephron, which would cascade into the distal segment. Other molecules, besides angiotensin 2 converting enzyme, might be involved in facilitating the viral aggression. The complexity of the geriatric patient shows the importance of a comprehensive approach that integrates careful monitoring of clinical signs and symptoms and laboratory and instrumental tests. This is especially important in the context of SARS-CoV-2 infection and in the management of its unexpected complications.
PubMed: 38361653
DOI: 10.1099/acmi.0.000598.v4 -
AACE Clinical Case Reports 2024Olanzapine is a second-generation antipsychotic medication with increased side effects of weight gain, hyperglycemia, and insulin resistance. Here we describe a case of...
BACKGROUND/OBJECTIVE
Olanzapine is a second-generation antipsychotic medication with increased side effects of weight gain, hyperglycemia, and insulin resistance. Here we describe a case of diabetic ketoacidosis in a patient who started taking olanzapine 12 weeks before she presented.
CASE REPORT
A 73-year-old African-American female presented with a 1-week history of confusion, polyuria, and polydipsia. Her past medical history included type 2 diabetes mellitus, hyperlipidemia, and severe depression with psychotic features. Her medications were olanzapine 5 mg, duloxetine 90 mg, and rosuvastatin 5 mg daily. Three weeks prior, she was diagnosed with COVID-19 and treated for a urinary tract infection. Her physical exam upon admission included severely dry mucous membranes and labored respirations. The circulating glucose was 748 mg/dL (70-110), anion gap 39 mmol/L (7-16), and hemoglobin A1c (HgbA1c) 11.8% (105 mmol/mol). Three months prior, her HgbA1c was 6.7% (50 mmol/mol). She was treated with intravenous fluids and continuous insulin infusion followed by subcutaneous basal-bolus glargine and lispro after an anion gap of 13 mmol/L (7-16) was obtained. Two weeks into her hospitalization, olanzapine was discontinued. She was discharged on 10 units of glargine and metformin 500 mg twice daily. Five months after discharge, she indicated not taking any of the prescribed insulin or metformin. At this follow-up, her HgbA1c was 6.7%.
DISCUSSION
Olanzapine may impair insulin secretion by causing pancreatic beta-cell apoptosis.
CONCLUSION
Increased awareness of the generalized metabolic effects and risk of diabetic ketoacidosis associated with antipsychotic medications is needed to develop a safe treatment plan for patients.
PubMed: 38303763
DOI: 10.1016/j.aace.2023.10.006 -
International Journal of Molecular... Jan 2024has been used as a medicinal herb in traditional medicines to treat strangury, polyuria, and swelling. The phytochemical investigation of the MeOH extract of roots led...
has been used as a medicinal herb in traditional medicines to treat strangury, polyuria, and swelling. The phytochemical investigation of the MeOH extract of roots led to the isolation of three iridoid glycosides and three coumarin glycoside derivatives, which were characterized as menthiafolin (), threoninosecologanin (), callicoside C (), and scopolin (), as well as two undescribed peltatamarins A () and B (). The chemical structures of the undescribed compounds were determined by analyzing their 1 dimensional (D) and 2D nuclear magnetic resonance (NMR) spectra and using high-resolution (HR)-electrospray ionization mass spectroscopy (ESI-MS), along with the chemical reaction of acid hydrolysis. The wound healing activities of the isolated compounds - were evaluated using a HaCaT cell scratch test. Among the isolates, scopolin () and peltatamarin A () promoted HaCaT cell migration over scratch wounds, and compound was the most effective. Furthermore, compound significantly promoted cell migration without adversely affecting cell proliferation, even when treated at a high dose (100 μM). Our results demonstrate that peltatamarin A (), isolated from roots, has the potential for wound healing effects.
Topics: Glycosides; Iridoid Glycosides; Cardiac Glycosides; Plants, Medicinal; Wound Healing; Plant Extracts; Magnoliopsida; Coumarins
PubMed: 38279268
DOI: 10.3390/ijms25021268 -
Therapeutic Advances in Neurological... 2023Granulomatosis or eosinophilic granulomatosis with polyangiitis (GPA/EGPA) can affect multiple organs resulting in heterogeneous symptoms and phenotypes. Pituitary gland...
Granulomatosis or eosinophilic granulomatosis with polyangiitis (GPA/EGPA) can affect multiple organs resulting in heterogeneous symptoms and phenotypes. Pituitary gland dysfunction rarely occurs in GPA (1-3%) and even less in EGPA (two case reports). Here, we report a case of a 51-year-old female patient with a four-year history of EGPA who presented with new polydipsia and polyuria. Laboratory testing and magnetic resonance imaging (MRI) confirmed pituitary gland dysfunction caused by a hypophysitis. Therapeutic adjustment with a switch from dupilumab to mepolizumab resulted in a decrease in clinical symptoms, inflammation in MRI, and normalization of C-reactive protein in serum. This case underlines hypophysitis as a rare organ involvement also in EGPA. Moreover, this case demonstrates the responsiveness of neuroinflammatory manifestations to the recently approved anti-interleukin-5 monoclonal antibody mepolizumab as a new potential treatment option.
PubMed: 38274358
DOI: 10.1177/17562864231182519 -
Journal of Anaesthesiology, Clinical... 2023
PubMed: 38269171
DOI: 10.4103/joacp.joacp_61_22 -
International Journal of Molecular... Jan 2024Hydroxyhydroquinone (HHQ) is an oxidative component produced by roasting coffee beans and has been reported to generate relatively large amounts of reactive oxygen...
Hydroxyhydroquinone (HHQ) is an oxidative component produced by roasting coffee beans and has been reported to generate relatively large amounts of reactive oxygen species (ROS). In this study, we used senescence-accelerated mouse prone 8 (SAMP8) mice to determine whether HHQ consumption increases oxidative-stress-induced injury, because in SAMP8 mice, the activity of 8-oxoguanine DNA glycosylase 1, which repairs oxidative modifications in DNA, is decreased. The results showed that two out of twelve (16.7%) HHQ-treated mice presented polyuria and glucosuria around 2 months after the start of treatment, indicating that HHQ may act as a mutagen against SAMP8 mice, which is sensitive to oxidative damage. No abnormalities were observed in the chlorogenic acid (coffee polyphenol, CPP)-treated group. The concentration of hydrogen peroxide in the serum of SAMP8 mice was significantly higher than that in SAMR1 (senescence-resistant) control mice, and the concentration was further increased in the HHQ-treated group. CPP, when coexisting with HHQ at the rate contained in roasted coffee, decreased the amount of hydrogen peroxide in the serum of SAMP8 mice. Although CPP can act both oxidatively and antioxidatively as a polyphenol, CPP acts more antioxidatively when coexisting with HHQ. Thus, the oxidative effect of HHQ was shown to be counteracted by CPP.
Topics: Animals; Mice; Chlorogenic Acid; Polyphenols; Mutagens; Hydrogen Peroxide; Oxidative Stress; DNA; Hydroquinones
PubMed: 38255794
DOI: 10.3390/ijms25020720