scholarly journals A Partial Phenotype of adFNDI Related to the Signal Peptide c.55G>A Variant of the AVP Gene

Endocrines ◽  
2021 ◽  
Vol 2 (1) ◽  
pp. 37-43
Author(s):  
Vera Tocci ◽  
Maria Mirabelli ◽  
Stefania Giuliano ◽  
Eusebio Chiefari ◽  
Jane Hagelskjær Knudsen ◽  
...  
Keyword(s):  
Young Adult ◽  
Signal Peptide ◽  
Disease Onset ◽  
Point Mutations ◽  
Magnocellular Neurons ◽  
Hyperintense Signal ◽  
Familial Form ◽  
Family Medical History ◽  
Wide Variability ◽  
Avp Gene

The autosomal dominant familial form of neurohypophyseal diabetes insipidus (adFNDI) is a rare inherited endocrine disorder characterized by hypotonic polyuria, severe thirst and polydipsia, which results from a deficient neurosecretion of the antidiuretic hormone, also known as arginine vasopressin (AVP). To date, adFNDI has been linked to more than 70 different heterozygous point mutations of the 2.5 kb AVP gene, encoding the composite precursor protein of AVP. A minority of disease-causing mutations, such as the common c.55G>A variant, are predicted to affect amino acid residues close to the signal peptide (SP) cleavage site, and result in abnormal post-translational processing and intracellular trafficking of AVP precursors exerting neurotoxic activity on vasopressinergic magnocellular neurons. Generally, SP variants cause a gradual decline in the neurohypophyseal secretion of AVP in small children, although a wide variability in clinical onset and severity of manifestations has been reported. For the first time, we describe a kindred from Calabria (Southern Italy) with adFNDI and document a partial clinical phenotype in one female young adult member of the family. Methods: A young adult woman was subjected to clinical, neuroradiological and genetic assessments for a mild, adolescent-onset, polyuric state at our Endocrinology Unit. Her family medical history revealed an early-onset (<12 years of age) occurrence of polyuria and polydipsia, which was successfully managed with high doses of oral desmopressin, and a typical adFNDI inheritance pattern that was seen over three generations. Results: In the index patient, the extensive hypertonic dehydration during fluid deprivation test elicited a prompt elevation of urine osmolality and diuresis contraction, indicative of a partial adFNDI phenotype. Diagnosis was confirmed by concordant hormonal tests and magnetic resonance imaging (MRI) evidence of a reduced hyperintense signal of the neurohypophysis, which was regarded as compatible with the depletion of the vasopressinergic magnocellular neurons. Direct DNA sequencing and restriction enzyme cleavage analysis revealed that a heterozygous c.55G>A transition, predicting a p.Ala19Thr replacement in the C-terminal region of SP, was the cause of adFNDI in the investigated kindred. Conclusions: The identification of the genetic cause of aFNDI in this Calabrian kindred provides further information and confirms the wide variability of disease onset and severity of manifestations related to SP variants of the AVP gene, supporting the need for genetic testing in all patients with familial occurrence of polyuria, regardless of their clinical and radiological phenotype. Even though sexual differences in the antidiuretic responses are documented, it is unclear whether female gender would attenuate clinical disease progression in the presence of a pathogenic c.55G>A mutation.

scholarly journals Pregnancy progression, childbirth and postpartum period in women on the preclinical stage and against the background of multiple sclerosis in sporadic and family forms

2020 ◽  
pp. 36-41
Author(s):  
Tetiana Pohuliaieva
Keyword(s):  
Multiple Sclerosis ◽  
Postpartum Period ◽  
Disease Onset ◽  
Integrated Analysis ◽  
Preclinical Stage ◽  
Pregnancy And Childbirth ◽  
Family Form ◽  
Familial Form ◽  
Group 2 ◽  
Group 1

For the fi rst time in Ukraine, was explored the eff ect of pregnancy, childbirth and the postpartum period on the further course of multiple sclerosis (MS) in sporadic and family forms of women giving birth at the preclinical stage (group 1) and against the background of the disease (group 2). Through the use of questioning method and clinical and neurological examination the following phenomena were studied. Namely, premonitory history; features of the course of the disease; the duration between labor and development of the onset of the illness in women of the 1st group and between the onset and labor in women of the 2nd group; obstetric and gynecological history; the eff ect of pregnancy and childbirth on the further course of MS. A total of 82 women were examined, 51 of them were giving birth at preclinical stage (group 1) and 31 — against the background of MS (group 2). In the 1st group with remitting course (RC), 26 women had a sporadic form and 5 — a family form; with progressive course (PC) — in 14 — sporadic and in 6 — family form. In the 2nd group with RC, 23 women had sporadic and 1 family form; with PC — 6 had sporadic and 1 family. Research has shown, the disease of majority of women from the first group has been developed after childbirth. Women from the second group with RC were giving birth most often after 5—10 years of the disease onset; with PC — after more than 10 years. According to the obstetric and gynecological history, differences were obtained during pregnancy, childbirth and the postpartum period between two groups of women with different types of course. An assessment of the effects of pregnancy, childbirth and the postpartum period of women from the 2nd group made it possible to identify criteria for various options for the further course of MS (such as improvement, stabilization, improvement through worsening, worsening), which are closely interrelated with the types of course of the disease. To sum up, an integrated analysis of the above mentioned outcome shows a positive eff ect of pregnancy and childbirth in the vast majority of women with RC and a high incidence of decline of women with PC. Key words: multiple sclerosis, types of course, sporadic and familial form, pregnancy and childbirth, obstetric and gynecological history, complications during pregnancy and childbirth

scholarly journals Argpyrimidine, a methylglyoxal-derived advanced glycation end-product in familial amyloidotic polyneuropathy

2005 ◽  
Vol 385 (2) ◽  
pp. 339-345 ◽  
Author(s):  
Ricardo GOMES ◽  
Marta SOUSA SILVA ◽  
Alexandre QUINTAS ◽  
Carlos CORDEIRO ◽  
António FREIRE ◽  
...  
Keyword(s):  
Amyloid Fibrils ◽  
Single Point ◽  
Disease Onset ◽  
Point Mutations ◽  
Protein Glycation ◽  
Familial Amyloidotic Polyneuropathy ◽  
Soluble Form ◽  
Advanced Glycation ◽  
Advanced Glycation End Product ◽  
Amyloid Deposits

FAP (familial amyloidotic polyneuropathy) is a systemic amyloid disease characterized by the formation of extracellular deposits of transthyretin. More than 80 single point mutations are associated with amyloidogenic behaviour and the onset of this fatal disease. It is believed that mutant forms of transthyretin lead to a decreased stability of the tetramer, which dissociates into monomers that are prone to unfolding and aggregation, later forming β-fibrils in amyloid deposits. This theory does not explain the formation of β-fibrils nor why they are toxic to nearby cells. Age at disease onset may vary by decades for patients with the same mutation. Moreover, non-mutated transthyretin also forms the same deposits in SSA (senile systemic amyloidosis), suggesting that mutations may only accelerate this process, but are not the determinant factor in amyloid fibril formation and cell toxicity. We propose that glycation is involved in amyloidogenesis, since amyloid fibrils present several properties common to glycated proteins. It was shown recently that glycation causes the structural transition from the folded soluble form to β-fibrils in serum albumin. We identified for the first time a methylglyoxal-derived advanced glycation end-product, argpyrimidine [Nδ-(5-hydroxy-4,6-dimethylpyrimidin-2-yl)-L-ornithine] in amyloid fibrils from FAP patients. Unequivocal argpyrimidine identification was achieved chromatographically by amino acid analysis using dabsyl (4-dimethylaminoazobenzene-4′-sulphonyl) chloride. Argpyrimidine was found at a concentration of 162.40±9.05 pmol/mg of protein in FAP patients, and it was not detected in control subjects. The presence of argpyrimidine in amyloid deposits from FAP patients supports the view that protein glycation is an important factor in amyloid diseases.

scholarly journals Gut Microbiota Metabolism and Interaction with Food Components

2020 ◽  
Vol 21 (10) ◽  
pp. 3688 ◽  
Author(s):  
Pamela Vernocchi ◽  
Federica Del Chierico ◽  
Lorenza Putignani
Keyword(s):  
Gut Microbiota ◽  
Disease Onset ◽  
Human Gut ◽  
Food Components ◽  
Host Health ◽  
Wide Variability ◽  
Gut Microbe ◽  
A Cell ◽  
Health And Disease ◽  
Biochemical Mechanisms

The human gut contains trillions of microbes that play a central role in host biology, including the provision of key nutrients from the diet. Food is a major source of precursors for metabolite production; in fact, diet modulates the gut microbiota (GM) as the nutrients, derived from dietary intake, reach the GM, affecting both the ecosystem and microbial metabolic profile. GM metabolic ability has an impact on human nutritional status from childhood. However, there is a wide variability of dietary patterns that exist among individuals. The study of interactions with the host via GM metabolic pathways is an interesting field of research in medicine, as microbiota members produce myriads of molecules with many bioactive properties. Indeed, much evidence has demonstrated the importance of metabolites produced by the bacterial metabolism from foods at the gut level that dynamically participate in various biochemical mechanisms of a cell as a reaction to environmental stimuli. Hence, the GM modulate homeostasis at the gut level, and the alteration in their composition can concur in disease onset or progression, including immunological, inflammatory, and metabolic disorders, as well as cancer. Understanding the gut microbe–nutrient interactions will increase our knowledge of how diet affects host health and disease, thus enabling personalized therapeutics and nutrition.

Schwannomatosis, sporadic schwannomatosis, and familial schwannomatosis: a surgical series with long-term follow-up

2011 ◽  
Vol 114 (3) ◽  
pp. 756-762 ◽  
Author(s):  
Augusto Gonzalvo ◽  
Adam Fowler ◽  
Raymond John Cook ◽  
Nicholas Scott Little ◽  
Helen Wheeler ◽  
...  
Keyword(s):  
Mr Imaging ◽  
Disease Onset ◽  
Neurofibromatosis Type ◽  
Extent Of Resection ◽  
Spinal Nerve ◽  
Specific Information ◽  
Experienced Pain ◽  
Familial Form ◽  
Long Term Follow Up

Object The aim of this study was to provide disease-specific information about schwannomatosis in its different forms and to present 2 particular cases of malignant schwannomas in the context of familial schwannomatosis (FS). Methods The authors analyzed patients with pathologically defined schwannomas and identified those with varied forms of schwannomatosis. Each case was retrospectively analyzed for patient sex and age, number of operations and tumors excised, symptoms, location and size of tumors, extent of resection, nerve function pre- and postoperatively, complications, other nonsurgically treated tumors, malignancy, results of brain MR imaging, and follow-up data. Results One hundred fifty-eight patients underwent the excision of 216 schwannomas. One hundred forty-two patients presented with solitary schwannomas, 2 had neurofibromatosis Type 2 (NF2), and 14 presented with schwannomatosis. The average follow-up was 52 months. Six individuals had sporadic schwannomatosis, whereas 8 had the familial form of the disease. These 14 patients had an average age of 28.3 years at the time of disease onset (median 27.5 years) and 35.4 years at the time of the first operation (median 37 years) Thirteen of the 14 patients with schwannomatosis experienced pain as the first symptom. Eight (57%) of the 14 patients presented with at least 1 tumor in the spinal canal or attached to the spinal nerve roots. Malignant schwannomas developed in 2 patients from the same family during the follow-up. Conclusions Patients suffering from schwannomatosis tend to be younger than those presenting with solitary schwannomas. Therefore, individuals presenting at a young age with multiple schwannomas but not meeting the criteria for NF2 should prompt the physician to suspect schwannomatosis. Patients with schwannomatosis who report pain should be exhaustively examined. The spine is affected in the majority of patients, and MR imaging of the spine should be part of the routine evaluation. Rapid enlargement of schwannomas in the context of FS should raise suspicion of malignant transformation.

MOLECULAR GENETICS OF HAEMOPHILIA

1987 ◽  
Author(s):  
B F Giannelli
Keyword(s):  
Signal Peptide ◽  
Point Mutations ◽  
Factor Ix ◽  
Indirect Detection ◽  
Gene Deletions ◽  
Gene Markers ◽  
Haemophilia B ◽  
Familial Cases ◽  
Number Of Patients ◽  
Gene Defects

Haemophilia B, an X-linked recessive disease with an incidence of 1/30,000 newborn males, is due to defects in the gene for coagulation factor IX, which is on the long am of the X chromosome at band Xq27.1. This gene consists of approximately 34 Kb and contains 8 exons which specify a mRtfc of 2803 residues coding for a protein of 415 aa preceded by a prepro signal peptide of 46 aa. Coripanson of the functional domains of the factor IX protein with the exon structure of the gene supports the exon/protein domain hypothesis of gene evolution. The factor IX gene seems to be formed by a number of functionally and evolutionally independent modules. The signal peptide and the gla (γcarboxy-glutamic) region encoded in the first three exons are homologous to those of factor X, protein C and prothrombin. Thevfourth and fifth exons which code for the connecting peptide are homologous to one another and to the epidermal growth factor, a module that has been used in the construction of a great variety of proteins including different members of the coagulation and fibrinolytic pathways. The sixth exon encodes the activation peptide region, while the catalytic region of factor IX is coded by the seventh and eighth exon. This is at variance with other serine protease genes that have different exons for the segments containing the cardinal ami no-acids of the active centre (histidine, aspartic acid and serine).Natural selection acts against detrimental mutations of the factor IX gene and at each generation a proportion of haemophilia B genes is eliminated, as a significant number of patients does not reproduce. There appears to be no selective advantage to the heterozygote and therefore haemophilia B is maintained in the population by new mutations. Consequently, a significant proportion of patients should be born to non-carrier mothers, and unrelated patients should carry different gene defects, as recently verified by detailed analysis of individual haemophilia B genes.The defects of factor IX described so far comprise both point mutations and gene deletions. The latter affect either part or the whole of the gene and are often associated with the development of antibodies against therapeutically adninistered factor IX (the inhibitor complication). Since gene deletions may result in the complete absenceof factor IX synthesis or in the production of an extremely abnormal product, it has been suggested that mutationspreventing the synthesis of a factor IX gene product capable of inducing immune tolerance to normal factor IX is important in predisposing to the inhibitor complication.Among the point mutations described so far, those affecting the signal peptide are of particular interest. Substitutions of the arginine at positions -4 and -1 cause failure of propeptide cleavage. Thus they indicate that the propeptide consists of 18 aa an(lthat lts excision is necessary for factor IX function. It appears also that the propeptide contains a signal for γcarboxylation which has been conserved during the evolution of different γcarboxylated proteins.In spite of coagulant treatment, haemophilia B is a serious disease and one for which genetic counselling is required. Paramount for this is the detection of carriers and the diagnosis ofaffected male fetuses. DNA probes derived from the cloned factor IX gene have been used for this purpose. Carrier and first or second trimester prenatal diagnoses have been done using factors IX gene markers to follow the transmission of haemophilia B genes. Six sequence variations causing restriction fragment length polymorphisms (RFLP) in the factor IX gene have been detected and used as markers for such indirect diagnoses The efficiency of the above markers is reduced by linkage disequilibrium but, nevertheless, they offer definite carrier and nremtal diagnoses in 75-80% of the relatives of familial cases of haemophilia B.The indirect detection of gene defects is of modest help in the counselling of individuals from the families of isolated patients, but new methods for the direct detection of gene mutations promise better results in such families and also the attainment of % diagnostic success in relatives of familial cases.Finally the successful expression of recombinant factor IX genes in tissue culture and transgenic mammals raises hopes of therapeutic advances.

Melanoma genetic testing to promote reductions in tanning: Results from the Utah BRIGHT project.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 1582-1582
Author(s):  
Lisa Aspinwall ◽  
Tammy K. Stump ◽  
Jennifer M. Taber ◽  
Wendy Kohlmann ◽  
Marjan Champine ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
Genetic Test ◽  
Disease Onset ◽  
Skin Type ◽  
Control Group ◽  
Genetic Test Result ◽  
Family Medical History ◽  
Management Recommendations ◽  
Test Result

1582 Background: Predictive genetic testing for familial cancer may alert people to highly elevated risk prior to disease onset. Genetic test reporting has been shown to improve uptake of prophylactic screening and procedures, but whether test reporting also promotes increased performance of primary preventive behavior is unknown. Methods: Unaffected adult participants ( N= 124) from high-risk melanoma families, ages 16-69 (mean = 35.24, 52% men) were enrolled. Participants from families that carried a CDKN2A/p16 mutation received a personal genetic test result and counseling about management recommendations whereas control participants from families without a CDKN2A/16 mutation received equivalent counseling and management recommendations based on family history alone. Photoprotection outcomes were compared between CDKN2A/p16 participants (31 carriers, 44 noncarriers) and the no-test control group ( n= 49), allowing the effects of receiving a genetic test result to be distinguished from the effects of counseling alone. Assessments were seasonally timed to capture tanning during the summer months. Melanin Index (MI) scores, measures of skin tanning obtained through reflectance spectroscopy, were assessed at the dorsal wrist and face. Tanning of the dorsal wrist and face were calculated by subtracting baseline MI scores at an unexposed site on the same individual. Results: Multilevel model analyses examined changes in tanning over time while controlling for clinician-rated skin type, age, gender, date of assessment, and group differences in phenotypic factors and family medical history. Participants who received positive test results were significantly less tan at the wrist one year after their previous summer baseline ( b= -.11, p< .001). No-test controls and noncarriers had no change in tanning. The magnitude of decrease in tanning measurements observed among CDKN2A/ p16 carriers approximated one skin type. Facial tanning did not differ from baseline for any group. Conclusions: A positive melanoma genetic test result promotes reduced UVR exposure. Future research should examine why positive genetic test reports were more motivating to patients than equivalent counseling based on family history.

scholarly journals Analysis of vasopressin gene expression by in situ hybridization and immunohistochemistry in semi-thin sections.

1988 ◽  
Vol 36 (11) ◽  
pp. 1373-1378 ◽  
Author(s):  
A F Guitteny ◽  
P Böhlen ◽  
B Bloch
Keyword(s):  
Gene Expression ◽  
In Situ Hybridization ◽  
Magnocellular Neurons ◽  
Thin Sections ◽  
Paraventricular Nuclei ◽  
Reaction Intensity ◽  
The Difference ◽  
Vasopressin Gene ◽  
Avp Gene

We have designed a procedure to investigate vasopressin (AVP) gene expression on plastic-embedded tissue by using in situ hybridization to detect AVP mRNA and immunohistochemistry to detect AVP. Rat brain was fixed and vibratome slices were incubated with a 45-base synthetic oligonucleotide complementary to AVP mRNA labeled with 35S, embedded in Araldite, and cut into semi-thin serial sections that were either processed for autoradiography or treated with an AVP antiserum. The results show that AVP mRNA is detectable in magnocellular neurons of the supraoptic and paraventricular nuclei in both vibratome and semi-thin sections. Osmication after hybridization does not modify the signal. AVP mRNA is restricted to the cytoplasm of magnocellular neurons and to the proximal portion of certain processes. Neurons labeled with the AVP probe were also stained with the AVP antiserum. AVP mRNA quantity and the intensity of AVP immunoreactivity are not consistently related in neurons. At least two hypotheses must be considered to explain these differences: first, the procedure presently used could lead to a reaction intensity that does not exactly reflect the amount of antigen or mRNA present in cells; second, the difference observed may reflect the fact that transcriptional and translational events are not constantly linked and can be regulated differently from one AVP neuron to another. This method provides a way to detect mRNA on semi-thin sections together with antigenic molecules and to accurately investigate gene expression in complex tissues with optimal histological quality.

scholarly journals 938. Azole Resistant Aspergillus Species in Lung Transplant Recipients: A 10 Year Experience

2021 ◽  
Vol 8 (Supplement_1) ◽  
pp. S561-S562
Author(s):  
Nicholas A Marschalk ◽  
Palash Samanta ◽  
Eun Jeong Kwak ◽  
Minh-Hong Nguyen
Keyword(s):  
Lung Transplant ◽  
Hot Spot ◽  
Point Mutations ◽  
Common Species ◽  
Aspergillus Species ◽  
Azole Resistance ◽  
Transplant Recipients ◽  
Genotypic Analysis ◽  
Wide Variability ◽  
Lung Transplant Recipients

Abstract Background Invasive aspergillosis (IA) causes significant morbidity and mortality in lung transplant (LTx) recipients. Antifungal resistance in Aspergillus species is on the rise globally with specific concern in Europe related to the TR34/L98H mutation in the cyp51A enzyme that induces pan-azole resistance. Azole exposure is a known risk factor for development of resistant Aspergillus, but this is less well described in LTx population. Methods We reviewed the electronic medical records of LTx patients with respiratory cultures positive for Aspergillus species known to be inherently resistant or any Aspergillus species tested to be resistant to one or more triazole from 2010 to 2019. For available isolates, Sanger sequencing was performed on cyp51A with primers targeting the promoter region and 3 known hotspot areas. Results Twenty eight patients met inclusion criteria and 2.7% (28/1026) Aspergillus isolates were azole-resistant during study period (Figure 1). Median time from LTx to resistant Aspergillus growth was 196 days (range 14 - 3146). There was a cluster of positive cultures within 1-year post-Tx period (13/28). Azole exposure varied, from 7 to 2443 days (median 128). There was no change in incidence over the study period. The most common species was Aspergillus calidoustus (Figure 2). Twenty cases were deemed colonization, vs 5 probable IFI and 3 proven IFI. Mortality of IFI with resistant Aspergillus was 38% (3/8), higher than azole-susceptible IA (p=0.05). Twelve isolates were available for sequencing; none carried TR34/L98H mutation. There was wide variation in mutations, ranging from 1 to 12 point mutations in the cyp51 enzyme, many of them SNPs previously described as engendering an azole resistant phenotype (Figure 3). Aspergillosis-free Survival by Resistant and Susceptible Isolates Development of azole-resistant aspergillus colonization/infection was rare relative to common occurrence of colonization/infection with susceptible isolates in the lung transplant recipient population Azole Resistant Aspergillus Species Isolated from Lung Transplant Recipients The most commonly isolated species were A. calidoustus and ustus. Only 4/28 isolates were A. fumigatus. Azole Resistant Aspergillus Genotypic Analysis Sequenced isolates showed wide variability in point mutations. M220V, G54, and G448 were the only mutations observed more than once. 3 isolates were wild type. Conclusion Azole resistant Aspergillus infections remain an uncommon problem in LTx. The majority of isolates were deemed colonization, but mortality was high when IFI was present. Most isolates had mutations within the hot spot regions of cyp51A known to induce azole resistance. There were no TR34/L98H mutants found in our patient population. Disclosures Minh-Hong Nguyen, MD, Merck (Grant/Research Support)

The Novel Ser18del AVP Variant Causes Inherited Neurohypophyseal Diabetes Insipidus by Mechanisms Shared with Other Signal Peptide Variants

2017 ◽  
Vol 106 (2) ◽  
pp. 167-186 ◽  
Author(s):  
Lise Bols Toustrup ◽  
Helene Kvistgaard ◽  
Johan Palmfeldt ◽  
Charlotte Kjær Bjerre ◽  
Niels Gregersen ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Signal Peptide ◽  
Age At Onset ◽  
Neuronal Cell ◽  
Large Family ◽  
Cellular Level ◽  
The Novel ◽  
The Family ◽  
Challenge Tests ◽  
Avp Gene

Background/Aim: Variability in the severity and age at onset of autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) may be associated with certain types of variants in the arginine vasopressin (AVP) gene. In this study, we aimed to describe a large family with an apparent predominant female occurrence of polyuria and polydipsia and to determine the underlying cause. Methods: The family members reported their family demography and symptoms. Two subjects were diagnosed by fluid deprivation and dDAVP challenge tests. Eight subjects were tested genetically. The identified variant along with 3 previously identified variants in the AVP gene were investigated by heterologous expression in a human neuronal cell line (SH-SY5Y). Results: Both subjects investigated clinically had a partial neurohypophyseal diabetes insipidus phenotype. A g.276_278delTCC variant in the AVP gene causing a Ser18del deletion in the signal peptide (SP) of the AVP preprohormone was perfectly co-segregating with the disease. When expressed in SH-SY5Y cells, the Ser18del variant along with 3 other SP variants (g.227G>A, Ser17Phe, and Ala19Thr) resulted in reduced AVP mRNA, impaired AVP secretion, and partial AVP prohormone degradation and retention in the endoplasmic reticulum. Impaired SP cleavage was demonstrated directly in cells expressing the Ser18del, g.227G>A, and Ala19Thr variants, using state-of-the-art mass spectrometry. Conclusion: Variants affecting the SP of the AVP preprohormone cause adFNDI with variable phenotypes by a mechanism that may involve impaired SP cleavage combined with effects at the mRNA, protein, and cellular level.

scholarly journals Role of diffusion-weighted imaging in the diagnosis of cerebral venous thrombosis

2020 ◽  
Vol 48 (6) ◽  
pp. 030006052093344
Author(s):  
Bin Lv ◽  
Cheng-lin Tian ◽  
Xiang-yu Cao ◽  
Xin-feng Liu ◽  
Jun Wang ◽  
...  
Keyword(s):  
Venous Thrombosis ◽  
Cerebral Venous Thrombosis ◽  
Diffusion Weighted Imaging ◽  
Disease Onset ◽  
Transverse Sinus ◽  
Control Group ◽  
Lower Sensitivity ◽  
Sagittal Sinus ◽  
Diffusion Weighted ◽  
Hyperintense Signal

Objective To evaluate the hyperintense signal (HIS) performance on diffusion-weighted imaging (DWI) in diagnosing cerebral venous thrombosis (CVT). Methods Seventy-eight patients with CVT hospitalized from January 2004 to January 2015 were retrospectively studied alongside 78 controls without intracranial organic diseases. Diagnostic accuracy indices of HIS on DWI or T2-weighted imaging (T2WI) to diagnose CVT at different sites and states were analyzed. Results The overall sensitivity of HIS on DWI for the diagnosis of CVT was significantly lower than that of HIS on T2WI (34.6% vs. 79.5%). HIS on T2WI was more sensitive than HIS on DWI in detecting thrombosis, especially in the superior sagittal sinus and transverse sinus. HIS on DWI was inversely related to the time between disease onset and imaging. Compared with HIS on T2WI, combining HIS on DWI and T2WI did not increase the sensitivity for detecting CVT. HIS on DWI was not detected in the control group, but HIS on T2WI was detected in 26.3% of control individuals. The specificity of HIS on DWI for CVT was higher than that of HIS on T2WI (97.4% vs. 76.9%). Conclusion HIS on DWI has a lower sensitivity, but a higher specificity, than HIS on T2WI for diagnosing CVT.

Sign in / Sign up

Export Citation Format

Share Document