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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 -
PloS One 2017Many studies have explored the relationship between diabetes mellitus (DM) and tuberculosis (TB) demonstrating increased risk of TB among patients with DM and poor... (Meta-Analysis)
Meta-Analysis Review
INTRODUCTION
Many studies have explored the relationship between diabetes mellitus (DM) and tuberculosis (TB) demonstrating increased risk of TB among patients with DM and poor prognosis of patients suffering from the association of DM/TB. Owing to a paucity of studies addressing this question, it remains unclear whether patients with DM and TB are more likely than TB patients without DM to be grouped into molecular clusters defined according to the genotype of the infecting Mycobacterium tuberculosis bacillus. That is, whether there is convincing molecular epidemiological evidence for TB transmission among DM patients. Objective: We performed a systematic review and meta-analysis to quantitatively evaluate the propensity for patients with DM and pulmonary TB (PTB) to cluster according to the genotype of the infecting M. tuberculosis bacillus.
MATERIALS AND METHODS
We conducted a systematic search in MEDLINE and LILACS from 1990 to June, 2016 with the following combinations of key words "tuberculosis AND transmission" OR "tuberculosis diabetes mellitus" OR "Mycobacterium tuberculosis molecular epidemiology" OR "RFLP-IS6110" OR "Spoligotyping" OR "MIRU-VNTR". Studies were included if they met the following criteria: (i) studies based on populations from defined geographical areas; (ii) use of genotyping by IS6110- restriction fragment length polymorphism (RFLP) analysis and spoligotyping or mycobacterial interspersed repetitive unit-variable number of tandem repeats (MIRU-VNTR) or other amplification methods to identify molecular clustering; (iii) genotyping and analysis of 50 or more cases of PTB; (iv) study duration of 11 months or more; (v) identification of quantitative risk factors for molecular clustering including DM; (vi) > 60% coverage of the study population; and (vii) patients with PTB confirmed bacteriologically. The exclusion criteria were: (i) Extrapulmonary TB; (ii) TB caused by nontuberculous mycobacteria; (iii) patients with PTB and HIV; (iv) pediatric PTB patients; (v) TB in closed environments (e.g. prisons, elderly homes, etc.); (vi) diabetes insipidus and (vii) outbreak reports. Hartung-Knapp-Sidik-Jonkman method was used to estimate the odds ratio (OR) of the association between DM with molecular clustering of cases with TB. In order to evaluate the degree of heterogeneity a statistical Q test was done. The publication bias was examined with Begg and Egger tests. Review Manager 5.3.5 CMA v.3 and Biostat and Software package R were used.
RESULTS
Selection criteria were met by six articles which included 4076 patients with PTB of which 13% had DM. Twenty seven percent of the cases were clustered. The majority of cases (48%) were reported in a study in China with 31% clustering. The highest incidence of TB occurred in two studies from China. The global OR for molecular clustering was 0.84 (IC 95% 0.40-1.72). The heterogeneity between studies was moderate (I2 = 55%, p = 0.05), although there was no publication bias (Beggs test p = 0.353 and Eggers p = 0.429).
CONCLUSION
There were very few studies meeting our selection criteria. The wide confidence interval indicates that there is not enough evidence to draw conclusions about the association. Clustering of patients with DM in TB transmission chains should be investigated in areas where both diseases are prevalent and focus on specific contexts.
Topics: Diabetes Complications; Diabetes Mellitus; Genotype; Humans; Mycobacterium tuberculosis; Polymorphism, Restriction Fragment Length; Risk Factors; Tuberculosis, Pulmonary
PubMed: 28902922
DOI: 10.1371/journal.pone.0184675 -
Pituitary Oct 2017Granulomatosis with polyangiitis (GPA) is a multisystem disease, characterized by necrotizing small-vessel vasculitis, which mainly affects the respiratory tract and the... (Review)
Review
PURPOSE
Granulomatosis with polyangiitis (GPA) is a multisystem disease, characterized by necrotizing small-vessel vasculitis, which mainly affects the respiratory tract and the kidneys. Pituitary involvement in GPA is rare, present in about 1% of all cases of GPA. To date, only case reports or small case series have been published. Herein we report clinical features, imaging findings, treatment and outcomes in three patients with GPA-related pituitary dysfunction (PD).
METHODS
A retrospective analysis of three cases of GPA-related PD was conducted, followed by systematic review of the English medical literature using PubMed.
RESULTS
The three cases include three women aged between 32 and 37 years. PD was the presenting feature in one and two developed PD in the course of the disease. All patients had a pituitary lesion on MRI. Conventional treatment with high doses of glucocorticoids and cyclophosphamide led to resolution or improvement of the MRI abnormalities, whereas it was not effective in restoring PD. A systematic review identified 51 additional patients, showing that GPA can lead to partial or global PD, either at onset or, during the course of the disease. Secondary hypogonadism is the predominant manifestation, followed by diabetes insipidus (DI). Sellar mass with central cystic lesion is the most frequent radiological finding.
CONCLUSION
GPA should be carefully considered in patients with a sellar mass and unusual clinical presentation with DI and systemic disease. Although conventional induction-remission treatment improves systemic symptoms and radiological pituitary abnormalities, hormonal deficiencies persist in most of the patients. Therefore, follow-up should include both imaging and pituitary function assessment.
Topics: Adult; Cyclophosphamide; Diabetes Insipidus; Female; Glucocorticoids; Granulomatosis with Polyangiitis; Humans; Pituitary Diseases; Pituitary Gland; Retrospective Studies
PubMed: 28540625
DOI: 10.1007/s11102-017-0811-0 -
Archives of Gynecology and Obstetrics Sep 2022Acute Sheehan's syndrome is a rare, but potentially life-threatening, obstetric event that can be complicated by diabetes insipidus. Little information on the diagnosis...
PURPOSE
Acute Sheehan's syndrome is a rare, but potentially life-threatening, obstetric event that can be complicated by diabetes insipidus. Little information on the diagnosis and treatment of Sheehan's syndrome with diabetes insipidus is available. We report on a 28-year-old patient who developed acute Sheehan's syndrome with diabetes insipidus after giving birth, and on a systematic review of similar cases.
METHODS
We performed a systematic review of the literature cataloged in PubMed and Google Scholar using the keywords "Sheehan syndrome" OR "Sheehan's syndrome" AND "diabetes insipidus" to identify relevant case reports published between 1990 and 2021. Eight Reports met the inclusion criteria (English-language abstracts available, onset in the puerperium, information about the day of the onset).
RESULTS
In the present case, postpartum curettage was necessary to remove the residual placenta. The total amount of blood loss was severe (2500 ml). On the second day postpartal, the patient developed polyuria. Laboratory analysis revealed hypernatremia with increased serum osmolality and decreased urinary osmolality. Hormone analysis showed partial hypopituitarism involving the thyroid, corticotropic, and gonadotropic axes. The prolactin level was elevated. Brain magnetic resonance imaging showed pituitary gland infarction. Desmopressin therapy was initiated and resolved the polyuria. Hormone replacement therapy was administered. Four months later, the patient was well, with partial diabetes insipidus. The literature review indicated that this case was typical in terms of symptoms and disease onset. Most reported cases involve hypotension and peripartum hemorrhage, but some patients without hemorrhage also develop Sheehan's syndrome. Elevated prolactin levels are uncommon and associated with poor prognosis in patients with Sheehan's syndrome.
CONCLUSION
Acute Sheehan's syndrome with diabetes insipidus involves nearly all pituitary hormone axes, indicating severe disease. Prolactin elevation could suggest that a case of Sheehan's syndrome is severe.
Topics: Adult; Diabetes Mellitus; Female; Humans; Hypopituitarism; Polyuria; Postpartum Hemorrhage; Postpartum Period; Pregnancy; Prolactin
PubMed: 34779875
DOI: 10.1007/s00404-021-06294-2 -
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 -
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 -
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 -
Endonasal endoscopic transsphenoidal excision of tuberculum sellae meningiomas: a systematic review.Journal of Neurosurgical Sciences Dec 2016The endonasal endoscopic approach (EEA) for the resection of tuberculum sellae meningiomas (TSMs) has, more recently, been advocated as an alternative approach to deal... (Review)
Review
INTRODUCTION
The endonasal endoscopic approach (EEA) for the resection of tuberculum sellae meningiomas (TSMs) has, more recently, been advocated as an alternative approach to deal with this challenging tumor. The aim of this study was to conduct a systematic review of publications of TSMs excised through the transsphenoidal route in the past 10 years and review data on the extent of excision, visual outcomes and complication rates.
EVIDENCE ACQUISITION
We performed a thorough systematic review of the medical literature following the PRISMA guidelines. A medical librarian retrieved a list of 3443 articles published from 2006-2015 from the MEDLINE, EMBASE and Cochrane Central databases. Two of the authors independently screened for titles and abstracts and excluded 3340 of them. We reviewed the full text of the remaining 103 articles and included in our analysis 12 that met the following inclusion criteria: 1) 5 or more cases reported; 2) the extent of resection, visual outcomes and complication rates that were specifically documented for TSMs excised through the transsphenoidal route.
EVIDENCE SYNTHESIS
Twelve studies that included 150 patients were analyzed. The mean age was 55 years. The mean tumor volume, reported in 2 studies, was 6.6 cc and mean maximum diameter, reported in 11 studies, was 25 mm. The gross total resection rate was 77.2%. Vision improved in 79.5% of cases and deteriorated in 7.3%. CSF leak postoperatively occurred in 15.3% of patients. In the 11 studies that reported hormonal outcomes, there was a 9.4% transient hyponatremia or diabetes insipidus and 2.2% of patients developed a new permanent endocrine dysfunction. A symptomatic vascular injury was reported in 2.6% of patients. There was one mortality (0.6%).
CONCLUSIONS
The endonasal endoscopic transsphenoidal excision of TSMs is a feasible, safe and effective surgical option with a low morbidity and mortality. The use of this approach has evolved in the last 10 years and in some centers has replaced the transcranial route for selected cases. Given the limited availability and heterogeneity of comparative observational studies, a direct comparison with transcranial approaches was not performed for the purpose of this review analysis. Likewise, from an epidemiological and statistical perspective a meta-analysis was deemed inappropriate.
Topics: Endoscopy; Humans; Meningeal Neoplasms; Meningioma; Neurosurgical Procedures; Skull Base Neoplasms; Supratentorial Neoplasms
PubMed: 27280544
DOI: No ID Found -
Stroke and Vascular Neurology Jun 2022Sodium and water perturbations, manifesting as hyponatraemia and hypernatraemia, are common in patients who had an acute stroke, and are associated with worse outcomes... (Review)
Review
Sodium and water perturbations, manifesting as hyponatraemia and hypernatraemia, are common in patients who had an acute stroke, and are associated with worse outcomes and increased mortality. Other non-stroke-related causes of sodium and water perturbations in these patients include underlying comorbidities and concomitant medications. Additionally, hospitalised patients who had an acute stroke may receive excessive intravenous hypotonic solutions, have poor fluid intake due to impaired neurocognition and consciousness, may develop sepsis or are administered drugs (eg, mannitol); factors that can further alter serum sodium levels. Sodium and water perturbations can also be exacerbated by the development of endocrine consequences after an acute stroke, including secondary adrenal insufficiency, syndrome of inappropriate antidiuretic hormone secretion and diabetes insipidus. Recently, COVID-19 infection has been reported to increase the risk of development of sodium and water perturbations that may further worsen the outcomes of patients who had an acute stroke. Because there are currently no accepted consensus guidelines on the management of sodium and water perturbations in patients who had an acute stroke, we conducted a systematic review of the literature published in English and in peer-reviewed journals between January 2000 and December 2020, according to PRISMA guidelines, to assess on the current knowledge and clinical practices of this condition. In this review, we discuss the signs and symptoms of hyponatraemia and hypernatraemia, the pathogenesis of hyponatraemia and hypernatraemia, their clinical relevance, and we provide our recommendations for effective treatment strategies for the neurologist in the management of sodium and water perturbations in commonly encountered aetiologies of patients who had an acute stroke.
Topics: COVID-19; Humans; Hypernatremia; Hyponatremia; Neurologists; Sodium; Stroke; Water
PubMed: 34969834
DOI: 10.1136/svn-2021-001230 -
Journal of Clinical Medicine Apr 2022Background: Volatile anesthetics were used as sedative agents in COVID-19 (Coronavirus Disease 2019) invasively ventilated patients for their potentially beneficial... (Review)
Review
Background: Volatile anesthetics were used as sedative agents in COVID-19 (Coronavirus Disease 2019) invasively ventilated patients for their potentially beneficial pharmacological effects and due to the temporary shortages of intravenous agents during the pandemic crisis. Methods: Online databases (PubMed, EMBASE, The Cochrane Central Register of Controlled Trial) and the “clinicaltrials.gov” website were searched for studies reporting the use of isoflurane, sevoflurane or desflurane. Results: We identified three manuscripts describing the beneficial effects of isoflurane on 41 COVID-19 patients with acute respiratory distress syndrome (ARDS) in Germany (n = 2) and in the USA (n = 1), in terms of reduction in the use of opioids and other sedatives. We also found a case report of two patients with transient nephrogenic diabetes insipidus, which started after 6 and 8 days of sevoflurane sedation. We identified two randomized controlled trials (RCTs; 92 patients overall), two observational studies (238 patients) on the use of volatile anesthetics in COVID-19 patients that were completed but not yet published, and one RCT interrupted for a low recruitment ratio (19 patients) and thus not published. We also identified five ongoing RCTs on the use of inhaled sedation in ARDS, which are also likely to be recruiting COVID-19 patients and which have currently enrolled a total of >1643 patients. Conclusion: Isoflurane was the most frequently used volatile agent in COVID-19 patients and allowed a reduction in the use of other sedative and analgesic drugs. Randomized evidence is building up and will be useful to confirm or challenge these findings.
PubMed: 35566625
DOI: 10.3390/jcm11092500