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Survey of Ophthalmology 2023Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with phenotypic similarities to autosomal recessive Wolfram syndrome (WS), including... (Review)
Review
Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with phenotypic similarities to autosomal recessive Wolfram syndrome (WS), including optic atrophy, hearing impairment, and diabetes mellitus. We summarize current literature, define the clinical characteristics, and investigate potential genotype phenotype correlations. A systematic literature search was conducted in electronic databases Pubmed/MEDLINE, EMBACE, and Cochrane Library. We included studies reporting patients with a clinical picture consisting at least 2 typical clinical manifestations of WSF1 disorders and heterozygous mutations in WFS1. In total, 86 patients from 35 studies were included. The most common phenotype consisted of the combination of optic atrophy (87%) and hearing impairment (94%). Diabetes mellitus was seen in 44% of the patients. Nineteen percent developed cataract. Patients with missense mutations in WFS1 had a lower number of clinical manifestations, less chance of developing diabetes insipidus, but a younger age at onset of hearing impairment compared to patients with nonsense mutations or deletions causing frameshift. There were no studies reporting decreased life expectancy. This review shows that, within the spectrum of WFS1-associated disorders or "wolframinopathies," autosomal dominantly inherited WFLS has a relatively mild phenotype compared to autosomal recessive WS. The clinical manifestations and their age at onset are associated with the specific underlying mutations in the WFS1 gene.
Topics: Humans; Hearing Loss; Mutation; Optic Atrophy; Tungsten; Wolfram Syndrome
PubMed: 36764396
DOI: 10.1016/j.survophthal.2023.01.012 -
Endocrine Practice : Official Journal... Aug 2023Accurate diagnosis of diabetes insipidus (DI) is of significant importance for correct management. We aimed to evaluate the diagnostic accuracy of copeptin level... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
Accurate diagnosis of diabetes insipidus (DI) is of significant importance for correct management. We aimed to evaluate the diagnostic accuracy of copeptin level measurements in the differential diagnosis between DI and primary polydipsia (PP).
METHODS
A literature search of electronic databases from January 1, 2005, to July 13, 2022, was performed. Primary studies that evaluated the diagnostic accuracy of copeptin concentration in patients with DI and PP were considered eligible. Two reviewers independently screened relevant articles and extracted data. The Quality Assessment of Diagnostic Accuracy Studies 2 tool was used to assess the quality of the included studies. The hierarchical summary receiver operating characteristic model and bivariate method were used.
RESULTS
Seven studies including 422 patients with polydipsia-polyuria syndrome were included; of the 422 patients, 189 (44.79%) presented with arginine vasopressin deficiency (AVP-D, cranial DI) and 212 (50.24%) with PP. The summary estimates of the diagnostic performance of stimulated copeptin to differentiate between PP and AVP-D were 0.93 (95% CI, 0.89-0.97) for sensitivity and 0.96 (95% CI, 0.88-1.00) for specificity. Baseline copeptin level showed high performance in identifying AVP resistance (nephrogenic DI), with a pooled sensitivity of 1.00 (95% CI, 0.82-1.00) and specificity of 1.00 (95% CI, 0.98-1.00); however, it showed little value in the differentiation between PP and AVP-D.
CONCLUSION
Copeptin level measurement is a useful tool for the differential diagnosis of patients with DI and PP. Stimulation before copeptin measurement is necessary in the diagnosis of AVP-D.
Topics: Humans; Diagnosis, Differential; Diabetes Insipidus; Glycopeptides; Diabetes Insipidus, Neurogenic; Diabetes Mellitus
PubMed: 37225043
DOI: 10.1016/j.eprac.2023.05.006 -
Presse Medicale (Paris, France : 1983) Dec 2021Hypophysitis is defined as inflammation of the pituitary gland. It is a heterogeneous condition as it can originate from different parts of the pituitary gland, can be...
Hypophysitis is defined as inflammation of the pituitary gland. It is a heterogeneous condition as it can originate from different parts of the pituitary gland, can be caused by different pathophysiological processes, and can be isolated or the manifestation of a underlying systemic disease. Hypophysitis usually presents with endocrine deficiencies, including diabetes insipidus, with varying patterns. A subset of patients presents with mass effects. The last decades major progress has been made in the understanding of this disease. New forms are now recognized, new diagnostics are being developed, and specific treatments are proposed. This review provides an overview of the current knowledge on hypophysitis using an aetiology-based approach and provides the clinician with a stepwise approach to the patient with (suspected) hypophysitis.
Topics: Autoimmune Hypophysitis; Diabetes Insipidus; Endocrine System Diseases; Erdheim-Chester Disease; Histiocytosis, Langerhans-Cell; Humans; Hypophysitis; Immune Checkpoint Inhibitors; Immunoglobulin G; Immunoglobulin G4-Related Disease; Pituitary Gland; Symptom Assessment; Xanthomatosis
PubMed: 34687912
DOI: 10.1016/j.lpm.2021.104076 -
Neurosurgery Jun 2023Craniopharyngiomas account for 1.2% to 4.6% of all intracranial tumors. Although age at presentation is distributed bimodally, with a pediatric peak occurring between 5... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Craniopharyngiomas account for 1.2% to 4.6% of all intracranial tumors. Although age at presentation is distributed bimodally, with a pediatric peak occurring between 5 and 15 years and an adult peak between 50 and 70 years, presentation, treatment, and outcome differences between these two craniopharyngioma populations have not been thoroughly characterized.
OBJECTIVE
To compare treatments and outcomes between adult and pediatric craniopharyngiomas.
METHODS
This is a systematic review and meta-analysis. Web of Science, MEDLINE, and Scopus databases were searched for primary studies reporting postoperative complications, functional outcomes, recurrence, and overall survival in patients with craniopharyngioma undergoing surgery.
RESULTS
The search yielded 1,202 unique articles, of which 106 (n=4,202 patients) met criteria for qualitative synthesis and 23 (n=735 patients) met criteria for meta-analysis. Compared with adult, pediatric craniopharyngiomas were less likely to present with visual defects (odds ratio [OR] 0.54, 95% CI 0.36-0.80) or cognitive impairment (OR 0.29, 95% CI 0.12-0.71) and more likely with headaches (OR 2.08, 95% CI 1.16-3.73). Children presented with significantly larger tumors compared with adults (standardized mean difference 0.68, 95% CI 0.38-0.97). Comparing functional outcomes, pediatric patients sustained higher rates of permanent diabetes insipidus (OR 1.70, 95% CI 1.13-2.56), obesity (OR 3.15, 95% CI 1.19-8.31), and cranial nerve and/or neurological defects (OR 4.87, 95% CI 1.78-13.31) than adults. No significant differences were found in rates of postoperative cerebrospinal fluid leak, overall or progression-free survival, or recurrence.
CONCLUSION
Adult and pediatric craniopharyngiomas seem to have fundamental differences in clinical presentation and functional outcomes. These patients frequently require multimodality treatment and are best managed with a multidisciplinary team and an individualized approach.
Topics: Adolescent; Adult; Child; Child, Preschool; Humans; Combined Modality Therapy; Craniopharyngioma; Diabetes Insipidus; Neurosurgical Procedures; Pituitary Neoplasms; Postoperative Complications; Treatment Outcome
PubMed: 36639856
DOI: 10.1227/neu.0000000000002346 -
Acta Endocrinologica (Bucharest,... 2023Pituitary adenomas are benign tumors, usually found in men in their 3 and 5 decades of life, representing 10-15% of all intracranial tumors. The clinical manifestations...
CONTEXT
Pituitary adenomas are benign tumors, usually found in men in their 3 and 5 decades of life, representing 10-15% of all intracranial tumors. The clinical manifestations include important endocrinological disturbances and visual impairment.
OBJECTIVE
This study aimed to determine the most suitable neurosurgical approach regarding the dimensions, extensions and invasiveness of tumor extensions.
DESIGN
This was a systematic review of the literature from 2002-2022, focused on clinical outcome, especially endocrinological state according to the surgical approach.
SUBJECTS AND METHODS
We performed an advanced search on Web of Science and PubMed databases on October 10, 2022. The literature showed 300 studies in the last 20 years, and after we applied the inclusion and exclusion criteria's, 19 studies were fully read and analyzed.
RESULTS
Postoperative complications were reviewed in each surgical approach group, including visual impairment, new endocrinological disturbances, diabetes insipidus and cerebrospinal fluid leakage. Analyze of the endocrinological findings did not determined differences in transcranial groups from transsphenoidal groups. Overall complications were identified in the transcranial cohorts, while cerebrospinal fluid leakage still represent the main problem in transsphenoidal groups. The majority of studies found included extended endoscopic transsphenoidal approach, which shows results of great potential.
CONCLUSIONS
For the surgical treatment of pituitary adenoma, transsphenoidal procedure with or without extended approaches is preferred, but they're cases when a craniotomy is mandatory for a feasible gross tumor resection. Combined "above and below" simultaneous procedure or a two-staged intervention is recommended for giant pituitary adenoma, to maximize tumor resection and lower the risk of cerebrospinal fluid leakage.
PubMed: 37908878
DOI: 10.4183/aeb.2023.228 -
CNS Drugs Oct 2022Psychotropic drugs are a heterogenous group of treatments prescribed for many psychiatric disorders, often for long periods. Their effects on the kidney and its...
BACKGROUND AND OBJECTIVE
Psychotropic drugs are a heterogenous group of treatments prescribed for many psychiatric disorders, often for long periods. Their effects on the kidney and its functioning are complex and a source of significant research and debate. This article aims to review recent evidence of the acute and chronic kidney adverse events of diverse psychotropes.
METHODS
A systematic search of randomized controlled trials and large observational studies (n ≥ 100) reporting the effects of psychotropic drugs on the kidney was conducted. The MEDLINE, PsycInfo, and EMBASE databases from 2011 to 2021, inclusive, were broadly searched with few restrictions and no prespecified outcomes. Two or more independent reviewers assessed and summarized all eligible studies, including risks of bias and levels of evidence.
RESULTS
In all, 1999 abstracts were screened for eligibility and 47 articles were included, which examined lithium (33), antiepileptics (10), antipsychotics (13), and antidepressants (9). No studies examining kidney adverse effects of other psychotropes, such as benzodiazepines, met inclusion criteria. Study populations were adult (8), geriatric (9), and mixed (30). Lithium was almost unanimously associated with (1) chronic kidney disease and (2) nephrogenic diabetes insipidus in methodologically diverse studies. The most supported risk factors for declining kidney functioning with lithium were advanced age, duration of lithium treatment, acute lithium toxicity, female sex, medications with known renal interactions, diabetes mellitus/hyperglycemia, and overall medical comorbidity. Supratherapeutic lithium concentrations are both the causes and consequences of acute kidney injury. Once significant chronic kidney disease has developed, four studies found that replacing lithium with other mood stabilizers does not slow progression, and the evolution to end-stage kidney disease is rare overall with modern practices. Compared to lithium, fewer studies examined antipsychotics and antiepileptics but found relatively less direct kidney harms. Antidepressants were not associated with acute or chronic kidney harms.
CONCLUSIONS
Despite the heterogeneity of findings, owing to varying methodologies and research challenges, recent studies strongly suggest that lithium is associated with an increased risk of chronic kidney disease and nephrogenic diabetes insipidus, especially in older adults and long-term lithium users. Clinicians should balance the harms of lithium against its established benefits, and ensure adequate monitoring and management of comorbidities in all patients. Weaker evidence suggests that antiepileptics such as valproate and antipsychotics result in comparatively less harm to the kidney than lithium, but warrant monitoring because of multiple direct and indirect mechanisms for potential kidney adverse events. Antidepressants do not have clear kidney adverse effects and appear safe (though potentially less effective) in the setting of kidney disease. Other classes of psychotropic drugs have received little research interest. Further research is warranted, particularly into specific antiepileptics and antipsychotics, and careful attention should be paid to mitigating important sources of bias such as confounding by indication.
Topics: Aged; Anticonvulsants; Antidepressive Agents; Antipsychotic Agents; Benzodiazepines; Diabetes Insipidus, Nephrogenic; Female; Humans; Kidney; Lithium; Lithium Compounds; Psychotropic Drugs; Renal Insufficiency, Chronic; Valproic Acid
PubMed: 36161425
DOI: 10.1007/s40263-022-00952-y -
World Journal of Oncology Jun 2023Pituitary metastasis (PM) from differentiated thyroid cancer (DTC) is extremely rare and may adversely affect outcomes. We aimed to assess the characteristics and... (Review)
Review
BACKGROUND
Pituitary metastasis (PM) from differentiated thyroid cancer (DTC) is extremely rare and may adversely affect outcomes. We aimed to assess the characteristics and outcomes of patients with PM from DTC.
METHODS
We systematically reviewed the literature on publications on PM and the different DTC histologic types (papillary, follicular, and Hurthle cell cancers). Three databases (PubMed, Embase, and Scopus) were searched for articles published from 1967 to 2022. Survival time was estimated as the period from the first treatment of PM to the time of death or last follow-up.
RESULTS
Twenty-five articles comprising 27 cases that met the eligibility criteria were identified using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). The median age of the patients was 60 years (23 - 86). A preponderance of females (66.7%) with PM most commonly reported papillary thyroid cancer (55.6%). This was followed by follicular thyroid cancer (37.0%) and Hurthle cell cancer (7.4%). The most common presentations were headache, nausea, and vomiting, with visual symptoms in 44.4%. Diabetes insipidus was an infrequent finding (7.4%). The median time from diagnosis or first treatment of DTC to the diagnosis of PM was 3 years (0 - 25). The most common endocrine abnormality was hyperprolactinemia (63.2%), while the most frequently deficient hormone was luteinizing hormone (50%). The most common treatment modality for PM was a combination of radiotherapy and surgery with or without radio-iodine. At the end of the follow-up, 30% of the patients died. Only 33.3% of the patients achieved complete resolution of symptoms. The overall median survival time was 12 months (3 - 108). There was a moderate inverse correlation between the age of patients and survival, which was, however, not statistically significant (rs = -0.45, P = 0.103).
CONCLUSION
PM from DTC is extremely rare, and Hurtle cell cancer appears to be the least associated with PM. Diabetes insipidus is a rare initial manifestation of PM from DTC. Complete resolution of symptoms is less likely to be achieved in PM from DTC. Older age may confer an increased survival tendency, probably due to more intracranial space volume in older people compared to the younger population. Larger studies are needed to examine the relationship between age and survival in PM from DTC. Also, more observational data are required to determine the predictors of survival and compare the efficacy of the different treatment modalities in patients with PM from DTC.
PubMed: 37350806
DOI: 10.14740/wjon1593 -
International Journal of Environmental... Jan 2022Wolfram syndrome (WS) is a rare autosomal recessive disorder that is characterized by the presence of diabetes mellitus, optic atrophy and hearing loss, all of which are... (Review)
Review
BACKGROUND
Wolfram syndrome (WS) is a rare autosomal recessive disorder that is characterized by the presence of diabetes mellitus, optic atrophy and hearing loss, all of which are crucial elements for the diagnosis. WS is variably associated with diabetes insipidus, neurological disorders, urinary tract anomalies, endocrine dysfunctions and many other systemic manifestations. Since Wolfram and Wagener first described WS in 1938, new phenotypic/genotypic variants of the syndrome have been observed and the clinical picture has been significantly enriched. To date, two main subtypes of WS that associated with two different mutations are known: WS type 1 (WS1), caused by the mutation of the wolframine gene (WS1; 606201), and WS type 2 (WS2), caused by the mutation of the CISD2 gene (WS2; 604928).
METHODS
A systematic review of the literature was describe the phenotypic characteristics of WS2 in order to highlight the key elements that differentiate it from the classic form.
CONCLUSION
WS2 is the rarest and most recently identified subtype of WS; its clinical picture is partially overlapping with that of WS1, from which it traditionally differs by the absence of diabetes insipidus and the presence of greater bleeding tendency and peptic ulcers.
Topics: Diabetes Mellitus, Type 2; Humans; Membrane Proteins; Mitochondrial Diseases; Mutation; Optic Atrophy; Wolfram Syndrome
PubMed: 35055657
DOI: 10.3390/ijerph19020835 -
Anticancer Research Sep 2022Craniopharyngiomas involving the ventricular system are rare but pose significant surgical challenges. We systematically reviewed the literature on craniopharyngiomas... (Review)
Review
BACKGROUND/AIM
Craniopharyngiomas involving the ventricular system are rare but pose significant surgical challenges. We systematically reviewed the literature on craniopharyngiomas invading the ventricles (CP-V).
MATERIALS AND METHODS
PubMed, EMBASE, Scopus, Web of Science, and Cochrane were searched to include studies reporting clinical data of patients with CP-Vs. Clinico-radiological features, management, and treatment outcomes were analyzed.
RESULTS
We included 73 studies encompassing 407 patients. Patients were mostly male (61.5%), presenting with headache (57.9%) and/or endocrine disorders (52.1%). CP-Vs mostly involved the third ventricle (96.3%), followed by the lateral ventricles (2.9%), and the fourth ventricle (1%). Tumors had cystic components in 59% of cases and were mostly adamantinomatous (70.8%). Open resection was performed in 232 cases (57%), mostly with trans-lamina terminalis (36.6%) and trans-callosal (31.9%) approaches. Endoscopic resection was performed in 169 cases (41.5%), mostly with trans-sphenoidal (74.6%) and transventricular (24.9%) approaches. Gross-total tumor resection was obtained in most cases (62.9%). Adjuvant radiotherapy was delivered in 22.8% cases. A total of 178 patients experienced persistent complications, mostly including diabetes insipidus (47.1%) and panhypopituitarism (12.7%), not significantly different after open versus endoscopic resection (p=0.117). Symptom improvement was obtained in 88% of cases. CP-Vs recurrences were reported in 94 patients (23.1%), with median progression-free survival of 13.5 months (range=0.5-252.0 months). Fifty-nine patients died (14.5%), with median overall survival of 32.0 months (range=0.5-252.0 months), significantly longer after endoscopic resection than open resection (p=0.019).
CONCLUSION
CP-Vs are uncommon and challenging entities. Surgical resection is feasible, but patient-tailored selection of open/endoscopic approaches is necessary to achieve optimal outcomes and minimize complication risks.
Topics: Craniopharyngioma; Female; Humans; Hypopituitarism; Male; Pituitary Neoplasms; Retrospective Studies; Treatment Outcome
PubMed: 36039438
DOI: 10.21873/anticanres.15919 -
Neurosurgical Review Feb 2021To quantitatively synthesize the comparative efficacy and safety of the most common surgical approaches including endonasal transsphenoidal endoscopic surgery (ETES),... (Meta-Analysis)
Meta-Analysis
To quantitatively synthesize the comparative efficacy and safety of the most common surgical approaches including endonasal transsphenoidal endoscopic surgery (ETES), sublabial transsphenoidal microsurgery (STMS) and endonasal transsphenoidal microsurgery (ETMS) for all kinds of pituitary tumors. This systematic review and network meta-analysis was performed on randomized controlled trials (RCTs) and comparison studies from databases of Pubmed, EMBASE, and the Cochrane library. We selected the rate of gross complete resection as our primary outcome of efficacy. And the incidence of all complications, cerebrospinal fluid (CSF) leak, diabetes insipidus, nasal septal perforation, death, and bleeding were designed as our primary outcomes of safety. Twenty-seven studies with 2618 patients were included in this network meta-analysis. On efficacy, there was no statistical difference among the three methods including ETES, STMS, and ETMS. As for safety, results indicated that the incidence of total complications of STMS (OR = 4.74; 95% CI 1.03, 40.14) is significantly superior to ETES. And the incidence of diabetes insipidus of ETMS (OR = 2.21; 95% CI 1.31, 3.81) was significantly superior to that of ETES. Besides, there was no statistical difference in the other complications including CSF leak, nasal septal perforation, death, and bleeding. We clarified the overpraise of the efficacy of endoscopy especially the endonasal transsphenoidal approach, and verified that all the approaches owned similar efficacy. Moreover, we recommended the endoscopy to be the first choice for pituitary tumors, because it demonstrated the best safety.
Topics: Endoscopy; Humans; Microsurgery; Pituitary Neoplasms
PubMed: 32036504
DOI: 10.1007/s10143-020-01240-3