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The Canadian Veterinary Journal = La... Nov 2023A 16-month-old neutered male domestic shorthair cat weighing 2.7 kg was referred for further evaluation of acute generalized muscle weakness and paraparesis after a...
A 16-month-old neutered male domestic shorthair cat weighing 2.7 kg was referred for further evaluation of acute generalized muscle weakness and paraparesis after a long-standing history of polyuria-polydipsia. The diagnosis of hypodipsic/adipsic hypernatremia relied on the key findings of absent spontaneous drinking despite hypernatremia and a hyperosmolar state (444.8 mOsm/kg, reference interval 280 to 310 mOsm/kg). Brain MRI revealed severe multifocal anatomic anomalies of the rostral calvarium and the forebrain, suggestive of encephaloclastic porencephaly. Involvement of the thalamic and hypothalamic regions could have been responsible for the cat's adipsic hypernatremia. The unique aspects of this case were the rare description of central nervous system disease leading to hypodipsia, and the history of chronic polydipsia before the acute onset of hypodipsia. Key clinical message: Multifocal abnormalities of the forebrain can present with polyuria-polydipsia syndrome, hypodipsia/adipsia, or both, depending on the stage of the disease. This likely happens when the hypothalamic and thalamic regions are affected, since they regulate antidiuretic hormone release and thirst, respectively.
Topics: Male; Cats; Animals; Hypernatremia; Polyuria; Thirst; Polydipsia; Craniocerebral Trauma; Cat Diseases
PubMed: 37915774
DOI: No ID Found -
JCEM Case Reports May 2023Herpes simplex virus (HSV) is one of the most common causes of viral encephalitis. Hypothalamic-pituitary dysfunction has rarely been reported in HSV encephalitis, with...
Herpes simplex virus (HSV) is one of the most common causes of viral encephalitis. Hypothalamic-pituitary dysfunction has rarely been reported in HSV encephalitis, with few reports into the longer term outcomes for these patients. A 46-year-old male presented with a 10-day history of delirium, fever, and polydipsia. Initial computed tomography of the brain and cerebrospinal fluid cell counts were normal. Magnetic resonance imaging showed T2-hyperintensity affecting bilateral infundibuli, hypothalami, subthalamic nuclei, and optic radiations. Serial cerebrospinal fluid detected HSV1 DNA and we diagnosed him with HSV diencephalitis. He had marked biochemical abnormalities from the outset, with dramatic changes in serum sodium levels. He was ultimately diagnosed with permanent central diabetes insipidus and panhypopituitarism following evidence of central hypothyroidism, hypogonadotrophic hypogonadism, and a flat cortisol response to an insulin tolerance test. Neurocognitive recovery took several months, but subtle deficits in executive function and information processing remain. Hypothalamic hyperphagia developed as well as temperature dysregulation. He requires lifelong hormonal replacement and is undergoing regular endocrine follow up. This case highlights hypothalamic-pituitary dysfunction as a rare endocrine complication of HSV diencephalitis and illustrates the complexity of managing this in the long term.
PubMed: 37908572
DOI: 10.1210/jcemcr/luad050 -
JCEM Case Reports Jan 2023Diabetes mellitus is one of the most common diseases worldwide and is a major cause of morbidity and mortality. Type 2 diabetes, with its hallmark being insulin...
Diabetes mellitus is one of the most common diseases worldwide and is a major cause of morbidity and mortality. Type 2 diabetes, with its hallmark being insulin resistance, constitutes the majority of cases. Although usually related to modifiable risk factors, insulin resistance can have genetic causes. Here, we present one of the rare causes of insulin resistance. A 21-year-old man, who was deaf and blind, presented with a 3-week history of polyuria and polydipsia. He was found to have significant hyperglycemia, managed initially with insulin infusion, then he was transitioned to subcutaneous injections. Because he required high doses of insulin and had acanthosis nigricans, insulin resistance was suspected. Putting together his insulin resistance and chronic history of syndromic features, Alström syndrome was considered. Genetic testing revealed a mutation in the gene. The patient was then started on insulin sensitizers with a tapering of insulin with good response. Insulin resistance should be suspected if the insulin requirement is high and if acanthosis nigricans is present. Alström syndrome is a rare causes of insulin resistance. Affected individuals will usually have insulin-resistant diabetes by a young age and associated blindness and deafness. Insulin sensitizers are an important part of the treatment.
PubMed: 37908279
DOI: 10.1210/jcemcr/luac012 -
JCEM Case Reports Jan 2023Hereditary central diabetes insipidus (CDI) is a genetic disorder characterized by polydipsia and polyuria. Most known mutations are located in the arginine-vasopressin...
Hereditary central diabetes insipidus (CDI) is a genetic disorder characterized by polydipsia and polyuria. Most known mutations are located in the arginine-vasopressin () gene. Here, we describe a Swiss family with an autosomal dominant mutation in the gene region encoding for the carrier protein neurophysin II (P55R). In addition, we discuss the algorithm for diagnosing and treating patients with hereditary CDI based on this Swiss family.
PubMed: 37908243
DOI: 10.1210/jcemcr/luac023 -
Animals : An Open Access Journal From... Oct 2023Hyperadrenocorticism (HAC) often leads to vacuolar hepatopathy. The impact of trilostane treatment on serum total bile acids (SBAs) concentrations in dogs with HAC...
Hyperadrenocorticism (HAC) often leads to vacuolar hepatopathy. The impact of trilostane treatment on serum total bile acids (SBAs) concentrations in dogs with HAC remains unknown. This study investigated SBAs concentrations in healthy dogs and those with HAC following trilostane therapy. Ten healthy dogs and fifteen dogs with HAC were prospectively enrolled. A biochemistry profile and pre- and post-prandial SBAs concentrations were determined in each dog. Dogs with HAC were reassessed at 1 and 3 months after the initiation of trilostane treatment. Dogs with HAC had significantly higher serum ALT, ALP, and GGT activities, and cholesterol, triglyceride, and pre-prandial SBAs concentrations compared to healthy dogs. After 3 months of trilostane treatment, polyuria/polydipsia and polyphagia were completely resolved in 42.8% and 35.7%, respectively. Significant improvements in serum ALT and ALP activities and cholesterol concentrations were observed within 1-3 months of trilostane treatment. However, pre- and post-prandial SBAs concentrations did not significantly decrease. These findings suggest that treatment with low-dose trilostane for 3 months appears to reduce serum liver enzyme activities, but not SBAs concentrations. Further investigation is warranted to explore the effects of low-dose trilostane treatment on SBAs concentrations for a longer duration or after achieving appropriate post-ACTH cortisol levels.
PubMed: 37893969
DOI: 10.3390/ani13203244 -
Medicina 2023Primary hypophysitis (PH) is a rare disease that represents a challenge among differential diagnosis and management. Our aim was to describe clinical characteristics,...
INTRODUCTION
Primary hypophysitis (PH) is a rare disease that represents a challenge among differential diagnosis and management. Our aim was to describe clinical characteristics, diagnostic criteria and different treatment outcomes in patients with PH. Multicentric, retrospective study. Clinical presentation, endocrine function, magnetic resonance imaging findings, visual field defects at diagnosis and treatment outcomes were recorded.
METHODS
Twenty-eight patients (23 women), with PH were included. Median age: 37.
RESULTS
The most frequent symptoms: headache: 68%, polyuria-polydipsia: 50% and visual disturbances: 48%. At diagnosis, anterior pituitary deficiency was present in 71%, being hypogonadotrophic hypogonadism the most frequent manifestation. The radiological findings: symmetric lesion: 78.5%, homogeneous enhancement: 78.5% and pituitary stalk thickening: 70%. Association with pregnancy or puerperium was found in 4/23 women (17%). Fourteen patients did not receive any treatment ("wait and see" group), 8 underwent surgery for mass reduction or resection and 6 were treated with immunosuppression therapy. Among 15 patients with histopathological diagnosis, 9 were lymphocytic hypophysitis, 5 IgG4 related hypophysitis and 1 xanthomatous hypophysitis. Thirteen were diagnosed by established clinical criteria. Mass reduction was observed in 43% of "wait and see group" patients, 62.5% of operated patients and 50% with immunosuppression therapy. Compressive symptoms showed improvement in the 3 groups, with modest effect on anterior pituitary function, diabetes insipidus did not resolve in any patients.
DISCUSSION
In patients without severe compressive symptoms, we adopted a "wait and see" approach. In patients with uncertain diagnosis of PH or severe compressive symptoms, transsphenoidal surgery was the best option.
Topics: Pregnancy; Humans; Female; Adult; Retrospective Studies; Hypophysitis; Pituitary Gland; Hypopituitarism; Autoimmune Hypophysitis; Magnetic Resonance Imaging
PubMed: 37870332
DOI: No ID Found -
Frontiers in Endocrinology 2023Copeptin is cleaved from the same precursor as arginine vasopressin and is released in equimolar amounts with arginine vasopressin from the posterior pituitary in... (Review)
Review
Copeptin is cleaved from the same precursor as arginine vasopressin and is released in equimolar amounts with arginine vasopressin from the posterior pituitary in response to the same stimuli. Its level of stability in the blood, quick and simple analysis, and ease of automation make it much easier to analyze than arginine vasopressin, thereby offering a suitable alternative to measuring arginine vasopressin in endocrine disorders. Research has demonstrated the suitability of copeptin in adults for the differentiation of arginine vasopressin resistance and arginine vasopressin deficiency from primary polydipsia, in addition to the early identification of arginine vasopressin deficiency following pituitary surgery; however, further research is still required in the Syndrome of Inappropriate Antidiuretic Hormone (SIADH) and the pediatric population.
Topics: Child; Adult; Humans; Diabetes Insipidus, Neurogenic; Glycopeptides; Arginine Vasopressin; Arginine
PubMed: 37859988
DOI: 10.3389/fendo.2023.1230045 -
Acta Veterinaria Scandinavica Oct 2023Meningoencephalitis of unknown origin is a common cause of severe neurological disease in dogs. The term covers a heterogeneous group of noninfectious inflammatory...
BACKGROUND
Meningoencephalitis of unknown origin is a common cause of severe neurological disease in dogs. The term covers a heterogeneous group of noninfectious inflammatory diseases, with immune dysregulation widely accepted as the underlying disease mechanism. Current treatment consists of immunosuppression, with corticosteroids being the mainstay of virtually all treatment regimens. However, side effects of corticosteroids can be severe, and might be the cause of death in some patients. This retrospective, multi-centric study aimed at describing a population of Scandinavian dogs with meningoencephalitis of unknown origin in regards to reported side effects and cause of death, and to highlight possible differences in survival, when comparing corticosteroid monotherapy with other treatment regimens.
RESULTS
Within the 5-year study period, 63 dogs were included. Of these, 35 (49.3%) died or were euthanized during the study period. Median survival time from time of diagnosis based on Kaplan-Meier curves for the overall population was 714 days (equivalent to around 25 months, range 0-1678 days). There was no statistically significant difference (P = 0.31) in survival between dogs treated with corticosteroid monotherapy (n = 26, median survival time 716 days, equivalent to around 25 months, range 5-911 days), dogs receiving a combination of corticosteroids and ciclosporin (n = 15, median survival time 916 days, equivalent to around 31 months, range 35-1678 days), and dogs receiving corticosteroids combined with either cytosine arabinoside, leflunomide, or a combination of 2 or more add-on drugs (n = 13, median survival time 1186 days, equivalent to around 40 months, range 121-1640 days). Side effects were registered for 47/63 dogs. Polyphagia (n = 37/47), polyuria/polydipsia (n = 37/47), diarrhea (n = 29/47) and lethargy (n = 28/47) were most frequently reported. The most common cause for euthanasia was relapse (n = 15/35, 42.9%), followed by insufficient or lack of treatment response (n = 9, 25.7%). Side effects were the direct cause of euthanasia in 2/35 dogs (5.7%).
CONCLUSIONS
A large proportion of dogs in the overall population were euthanized due to relapse, emphasizing a need for treatment regimens aimed at specifically preventing relapse for an improved long-term survival. Side effects in dogs receiving corticosteroid monotherapy were rarely a direct cause of death, but were reported for all dogs. No statistically significant difference in survival was found when corticosteroid monotherapy was compared to other treatment regimens.
Topics: Animals; Dogs; Humans; Adrenal Cortex Hormones; Cause of Death; Dog Diseases; Meningoencephalitis; Recurrence; Retrospective Studies
PubMed: 37858113
DOI: 10.1186/s13028-023-00709-7 -
Endocrinology, Diabetes & Metabolism... Oct 2023A 20-year-old South Asian male presented with polyuria, polydipsia, HbA1c 81 mmol/mol, BMI 28.8 and family history of both type 1 and type 2 diabetes mellitus. As...
SUMMARY
A 20-year-old South Asian male presented with polyuria, polydipsia, HbA1c 81 mmol/mol, BMI 28.8 and family history of both type 1 and type 2 diabetes mellitus. As autoantibody testing was negative and c-peptide level demonstrated significant endogenous insulin secretion, type 1 diabetes was excluded. Given his age and family history, the differential diagnosis included maturity-onset diabetes of the young (MODY), a rare form of diabetes caused by a single-gene variant. A high probability of MODY was calculated and he was subsequently referred for genetic testing. Although a useful tool, the pre-test probability calculator for MODY is only validated in White Europeans. A heterogenous variant of unknown clinical significance of the NEUROD1 gene was detected, leading to gliclazide use with poor response. The patient responded well to metformin. Type 2 diabetes was considered the most likely diagnosis. This case highlights the diagnostic challenges in young patients of Asian ethnicity and the importance of interpreting genetic results of unknown significance within the clinical context. Ethnicity-specific BMI thresholds should be used when classifying patients as overweight or obese.
LEARNING POINTS
Variants of unknown significance detected by genetic sequencing should be interpreted within the context of the patient's other clinical parameters. It is important to use ethnicity-specific BMI thresholds for obesity. Diagnosis of type 2 diabetes mellitus at younger ages is becoming increasingly common. The pre-test probability calculator for MODY is only validated in White Europeans; although a useful guide, results should be interpreted with caution in patients of other ethnicities.
PubMed: 37855645
DOI: 10.1530/EDM-23-0024 -
Medicine Oct 2023This study aimed to provide a clinical basis for the therapy of diabetic ketoacidosis (DKA) complicated with acute pancreatitis (AP) through exploring the clinical... (Randomized Controlled Trial)
Randomized Controlled Trial
BACKGROUND
This study aimed to provide a clinical basis for the therapy of diabetic ketoacidosis (DKA) complicated with acute pancreatitis (AP) through exploring the clinical efficacy of dexamethasone.
METHODS
A total of 106 DKA patients complicated with AP admitted to Wuxi People's Hospital Affiliated to Nanjing Medical University from January 2020 to December 2022 were selected and randomly divided into a study group (n = 53) and a placebo group (n = 53) according to the random number table method. The study group patients were given dexamethasone, while the placebo group patients were treated using placebos. Subsequently, changes of laboratory indexes and clinical symptoms before and after treatment were compared between the 2 groups, as well as adverse events after treatment.
RESULTS
There was no significant difference between the 2 groups in terms of general information (P > .05), indicating that the 2 groups patients were comparable. Before treatment, laboratory indexes and clinical symptoms between the 2 groups were not significantly different (P > .05). After treatment, compared with the placebo group, patients in the study group exhibited lower levels of indicators such as random venous blood glucose, serum sodium, serum chlorine, urea nitrogen, urine glucose, urine ketone, serum amylase, and triglyceride and higher levels of PH value and serum potassium, with a statistically significant difference (P < .05); also, the study group patients were improved significantly in clinical symptoms such as abdominal pain, nausea and vomiting, polydipsia and polyuria, diarrhea, disorders of consciousness and hypotension or shock (P < .05). Moreover, the possibility of adverse events in the study group after treatment was much lower than that in the control group (17.0% vs 58.5%) (P < .05).
CONCLUSION
Dexamethasone has a good clinical effect on DKA patients complicated with AP.
Topics: Humans; Diabetic Ketoacidosis; Pancreatitis; Acute Disease; Treatment Outcome; Dexamethasone; Diabetes Mellitus
PubMed: 37832092
DOI: 10.1097/MD.0000000000035320