scholarly journals Pseudohypoparathyroidism: Diagnosis and Treatment

2011 ◽  
Vol 96 (10) ◽  
pp. 3020-3030 ◽  
Author(s):  
Giovanna Mantovani
Keyword(s):  
Evidence Synthesis ◽  
Diagnostic Procedures ◽  
Type I ◽  
Epigenetic Alterations ◽  
Molecular Alterations ◽  
Gnas Gene ◽  
Type Ia ◽  
Pubmed Search ◽  
Actual Classification

Abstract Context: The term pseudohypoparathyroidism (PHP) indicates a group of heterogeneous disorders whose common feature is represented by impaired signaling of various hormones (primarily PTH) that activate cAMP-dependent pathways via Gsα protein. The two main subtypes of PHP, PHP type Ia, and Ib (PHP-Ia, PHP-Ib) are caused by molecular alterations within or upstream of the imprinted GNAS gene, which encodes Gsα and other translated and untranslated products. Evidence acquisition: A PubMed search was used to identify the available studies (main query terms: pseudohypoparathyroidism; Albright hereditary osteodystrophy; GNAS; GNAS1; progressive osseous heteroplasia). The most relevant studies until February 2011 have been included in the review. Evidence synthesis and conclusions: Despite the first description of this disorder dates back to 1942, recent findings indicating complex epigenetic alterations beside classical mutations at the GNAS complex gene, pointed out the limitation of the actual classification of the disease, resulting in incorrect genetic counselling and diagnostic procedures, as well as the gap in our actual knowledge of the pathogenesis of these disorders. This review will focus on PHP type I, in particular its diagnosis, classification, treatment, and underlying molecular alterations.

scholarly journals Molecular classification of spontaneous endometrial adenocarcinomas in BDII rats

2009 ◽  
Vol 16 (1) ◽  
pp. 99-111 ◽  
Author(s):  
Emma Samuelson ◽  
Carola Hedberg ◽  
Staffan Nilsson ◽  
Afrouz Behboudi
Keyword(s):  
Cell Biology ◽  
Tumor Model ◽  
Molecular Classification ◽  
Female Rats ◽  
Type I ◽  
Over Expression ◽  
Molecular Alterations ◽  
Molecular Features ◽  
Endometrial Carcinomas

Female rats of the BDII/Han inbred strain are prone to spontaneously develop endometrial carcinomas (EC) that in cell biology and pathogenesis are very similar to those of human. Human EC are classified into two major groups: Type I displays endometroid histology, is hormone-dependent, and characterized by frequent microsatellite instability and PTEN, K-RAS, and CTNNB1 (β-Catenin) mutations; Type II shows non-endometrioid histology, is hormone-unrelated, displays recurrent TP53 mutation, CDKN2A (P16) inactivation, over-expression of ERBB2 (Her2/neu), and reduced CDH1 (Cadherin 1 or E-Cadherin) expression. However, many human EC have overlapping clinical, morphologic, immunohistochemical, and molecular features of types I and II. The EC developed in BDII rats can be related to type I tumors, since they are hormone-related and histologically from endometrioid type. Here, we combined gene sequencing (Pten, Ifr1, and Ctnnb1) and real-time gene expression analysis (Pten, Cdh1, P16, Erbb2, Ctnnb1, Tp53, and Irf1) to further characterize molecular alterations in this tumor model with respect to different subtypes of EC in humans. No mutation in Pten and Ctnnb1 was detected, whereas three tumors displayed sequence aberrations of the Irf1 gene. Significant down regulation of Pten, Cdh1, p16, Erbb2, and Ctnnb1 gene products was found in the tumors. In conclusion, our data suggest that molecular features of spontaneous EC in BDII rats can be related to higher-grade human type I tumors and thus, this model represents an excellent experimental tool for research on this malignancy in human.

scholarly journals A new classification of cardio-oncology syndromes

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Rudolf A. de Boer ◽  
Joseph Pierre Aboumsallem ◽  
Valentina Bracun ◽  
Douglas Leedy ◽  
Richard Cheng ◽  
...  
Keyword(s):  
Cardiovascular Health ◽  
Diagnostic Procedures ◽  
Abrupt Onset ◽  
Type I ◽  
Cancer Therapies ◽  
Cardiovascular Dysfunction ◽  
Type Iv ◽  
High Oxidative Stress ◽  
Type V

AbstractIncreasing evidence suggests a multifaceted relationship exists between cancer and cardiovascular disease (CVD). Here, we introduce a 5-tier classification system to categorize cardio-oncology syndromes (COS) that represent the aspects of the relationship between cancer and CVD. COS Type I is characterized by mechanisms whereby the abrupt onset or progression of cancer can lead to cardiovascular dysfunction. COS Type II includes the mechanisms by which cancer therapies can result in acute or chronic CVD. COS Type III is characterized by the pro-oncogenic environment created by the release of cardiokines and high oxidative stress in patients with cardiovascular dysfunction. COS Type IV is comprised of CVD therapies and diagnostic procedures which have been associated with promoting or unmasking cancer. COS Type V is characterized by factors causing systemic and genetic predisposition to both CVD and cancer. The development of this framework may allow for an increased facilitation of cancer care while optimizing cardiovascular health through focused treatment targeting the COS type.

scholarly journals Diagnosis and Treatment of Subclinical Hypercortisolism

2011 ◽  
Vol 96 (5) ◽  
pp. 1223-1236 ◽  
Author(s):  
Iacopo Chiodini
Keyword(s):  
Diabetes Mellitus ◽  
Evidence Synthesis ◽  
Adult Population ◽  
Randomized Study ◽  
Diagnostic Procedures ◽  
Adrenal Incidentalomas ◽  
Subclinical Hypercortisolism ◽  
Chronic Complications ◽  
Patients With Diabetes ◽  
Pubmed Search

Context: Subclinical hypercortisolism (SH) is a condition of biochemical cortisol excess without the classical signs or symptoms of overt hypercortisolism. It is thought to be present in the 5–30% of patients with incidentally discovered adrenal mass (adrenal incidentalomas), which in turn are found in 4–7% of the adult population. Therefore, SH has been suggested to be present in 0.2–2.0% of the adult population. Some studies suggested that this condition is present in 1–10% of patients with diabetes or established osteoporosis. The present manuscript reviews the literature on diagnostic procedures and the metabolic effect of the recovery from SH. Evidence Acquisition: A PubMed search was used to identify the available studies. The most relevant studies from 1992 to November 2010 have been included in the review. Evidence Synthesis: The available data suggest that SH may be associated with chronic complications, such as hypertension, diabetes mellitus, overweight/obesity, and osteoporosis. The available intervention studies suggest that the recovery from SH may lead to the improvement of hypertension and diabetes mellitus. A retrospective study suggests that this beneficial effect could be predicted before surgery. Conclusions: SH is suggested to be associated with some chronic complications of overt cortisol excess. Recovery from this condition seems to improve these complications. However, a large, prospective, randomized study is needed to confirm this hypothesis and to establish the best diagnostic approach to identify patients with adrenal incidentalomas who can benefit from surgery.

Tetra-amino-acid tandem repeats are involved in HsdS complementation in type IC restriction–modification systems

Microbiology ◽  
2003 ◽  
Vol 149 (11) ◽  
pp. 3311-3319 ◽  
Author(s):  
Monika Adamczyk-Popławska ◽  
Aneta Kondrzycka ◽  
Katarzyna Urbanek ◽  
Andrzej Piekarowicz
Keyword(s):  
Amino Acid ◽  
Tandem Repeats ◽  
Molecular Evidence ◽  
Type I ◽  
High Identity ◽  
E Coli ◽  
Wide Range ◽  
Type Ia ◽  
Restriction Modification

All known type I restriction and modification (R–M) systems of Escherichia coli and Salmonella enterica belong to one of four discrete families: type IA, IB, IC or ID. The classification of type I systems from a wide range of other genera is mainly based on complementation and molecular evidence derived from the comparison of the amino acid similarity of the corresponding subunits. This affiliation was seldom based on the strictest requirement for membership of a family, which depends on relatedness as demonstrated by complementation tests. This paper presents data indicating that the type I NgoAV R–M system from Neisseria gonorrhoeae, despite the very high identity of HsdM and HsdR subunits with members of the type IC family, does not show complementation with E. coli type IC R–M systems. Sequence analysis of the HsdS subunit of several different potential type IC R–M systems shows that the presence of different tetra-amino-acid sequence repeats, e.g. TAEL, LEAT, SEAL, TSEL, is characteristic for type IC R–M systems encoded by distantly related bacteria. The other regions of the HsdS subunits potentially responsible for subunit interaction are also different between a group of distantly related bacteria, but show high similarity within these bacteria. Complementation between the NgoAV R–M system and members of the EcoR124 R–M family can be restored by changing the tetra-amino-acid repeat within the HsdS subunit. The authors propose that the type IC family of R–M systems could consist of several complementation subgroups whose specificity would depend on differences in the conserved regions of the HsdS polypeptide.

Vulvar Reconstruction by Perforator Flaps: Algorithm for Flap Choice Based on the Topography of the Defect

2015 ◽  
Vol 25 (7) ◽  
pp. 1322-1327 ◽  
Author(s):  
Luca Negosanti ◽  
Rossella Sgarzani ◽  
Erich Fabbri ◽  
Stefano Palo ◽  
Carlo Maria Oranges ◽  
...  
Keyword(s):  
Diep Flap ◽  
Type I ◽  
Type Ii ◽  
Perforator Flaps ◽  
Vulvar Reconstruction ◽  
Type Ia ◽  
Deep Inferior Epigastric Perforator ◽  
Reconstructive Algorithm ◽  
Lotus Petal Flap

ObjectiveMany techniques have been proposed to reconstruct acquired vulvar defects. In our experience, every type of vulvar defect can be repaired with 2 pedicled flaps, namely, the pedicle deep inferior epigastric perforator (DIEP) flap and the lotus petal flap (LPF).Materials and MethodsWe report our reconstructive algorithm for vulvar reconstruction, based on the topography of the defect, applied in 22 consecutive patients from 2000 to 2012. According to the proposed algorithm, DIEP flap and LPF (monolateral or bilateral type) can repair all kinds of wide vulvar defects. Surgical defects were classified as type I (IA and IB) and type II in relation to the anatomy of the defect.ResultsNo major complications were reported in our series. All patients reported satisfactory results, both functionally and aesthetically.ConclusionsWe propose an easy classification of acquired vulvar defects separating the ones consequent only to the vulvar resection, with preservation of vagina (type I), by the wider defects after vaginal and vulvar resection (type II); type I can be subclassified into defects consequent to half-vulvar resection (type IA) or to total vulvar resection (type IB). Type I defects (IA and IB) can be reconstructed with monolateral or bilateral LPF; in type II resections, we have a great wound that required more tissue to fill the pelvic dead space, so we prefer pedicle DIEP flap.

scholarly journals Pediatric Suprasellar Germ Cell Tumors: A Clinical and Radiographic Review of Solitary vs. Bifocal Tumors and Its Therapeutic Implications

Cancers ◽  
2020 ◽  
Vol 12 (9) ◽  
pp. 2621
Author(s):  
Darian R. Esfahani ◽  
Tord Alden ◽  
Arthur DiPatri ◽  
Guifa Xi ◽  
Stewart Goldman ◽  
...  
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumors ◽  
Cell Tumor ◽  
Type I ◽  
Type Ii ◽  
Therapeutic Implications ◽  
Type Iv ◽  
Type Ia ◽  
Type V

Suprasellar germ cell tumors (S-GCTs) are rare, presenting in either solitary or multifocal fashion. In this study, we retrospectively examine 22 solitary S-GCTs and 20 bifocal germ cell tumors (GCTs) over a 30-year period and demonstrate clinical, radiographic, and prognostic differences between the two groups with therapeutic implications. Compared to S-GCTs, bifocal tumors were almost exclusively male, exhibited higher rate of metastasis, and had worse rates of progression free and overall survival trending toward significance. We also introduce a novel magnetic resonance (MR) imaging classification of suprasellar GCT into five types: a IIIrd ventricle floor tumor extending dorsally with or without an identifiable pituitary stalk (Type Ia, Ib), ventrally (Type III), in both directions (Type II), small lesions at the IIIrd ventricle floor extending to the stalk (Type IV), and tumor localized in the stalk (Type V). S-GCTs almost uniformly presented as Type I–III, while most bifocal GCTs were Type IV with a larger pineal mass. These differences are significant as bifocal GCTs representing concurrent primaries or subependymal extension may be treated with whole ventricle radiation, while cerebrospinal fluid (CSF)-borne metastases warrant craniospinal irradiation (CSI). Although further study is necessary, we recommend CSI for bifocal GCTs exhibiting high-risk features such as metastasis or non-germinomatous germ cell tumor histology.

Hormonal characterization and classification of breast cyst fluid in gross cystic mastopathy

1994 ◽  
Vol 1 (2) ◽  
pp. 49-55 ◽  
Author(s):  
I Számel ◽  
B Budai ◽  
K Daubner ◽  
J Kralovánszky ◽  
Sz Ottó ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Sex Steroids ◽  
Linear Regression Analysis ◽  
Cyst Fluid ◽  
Type I ◽  
Breast Cyst Fluid ◽  
Breast Cyst ◽  
Apocrine Metaplasia ◽  
Endocrine Parameters

ABSTRACT Gross cystic disease (GCD) of the breast may be associated with a higher risk for the development of breast cancer. High levels of sex steroids, steroid hormone precursors, prolactin and cations have been found in breast cyst fluid (BCF) by several investigators. Accordingly, endocrine parameters and the cationic composition of BCF may be considered as useful characteristics to follow patients bearing macrocysts. In this study we have investigated the concentrations of estradiol (E2), progesterone, testosterone, dehydroepiandrosterone (DHA) and DHA-3-sulfate (DHA-S), prolactin, potassium (K+) and sodium (Na+) in BCF aspirated from 99 women. The mean age of the patients was 49.8 years (range 32-58). The hormone levels were measured by RIA methods; K+ and Na+ were determined by flame photometry. Estradiol, progesterone, testosterone, DHA, DHA-S, prolactin and K+ showed significant accumulation in the BCF compared with their respective serum values. The K+/Na+ ratio proved to be useful in dividing cysts into type I (≥1), type II (<1 but ≥0.1) and type III (<0.1) subgroups. For type I BCF, higher DHA, DHA-S and prolactin concentrations were detected. Linear regression analysis established a highly significant (P<0.001) correlation between the concentrations of E2 and DHA-S (r=0.686), and also between testosterone and DHA-S (r=0.711). These findings indicate that type I BCF might be a marker for 'active' GCD of the breast, and suggest that it may be associated with an increased breast cancer risk, since this group of patients is supposed to have cysts with apocrine metaplasia. It is suggested therefore that when BCF is aspirated, sex steroids, steroid precursors and cations should be routinely measured, and women with type I cysts should be regularly examined.

scholarly journals WHO classification of tumors of the nervous system: preview of the upcoming 5th edition

2021 ◽  
Author(s):  
Elisabeth J. Rushing
Keyword(s):  
Nervous System ◽  
Who Classification ◽  
Epigenetic Alterations ◽  
Classification Of Tumors ◽  
Central Nervous Sytem

SummaryIdentification of the underlying genetic and epigenetic alterations in an increasing number of tumors of the nervous system is contributing to a more clinically relevant classification. In the following article, the 7 cIMPACT-NOW publications, which adumbrate the upcoming 5th edition of the WHO Classification of Tumours of the Central Nervous Sytem are summarized.

Morphological types of spermatheca in Coreidae: bearing on intra-familial classification and tribal-groupings (Hemiptera: Heteroptera)

Zootaxa ◽  
2020 ◽  
Vol 4834 (4) ◽  
pp. 451-501
Author(s):  
DOMINIQUE PLUOT-SIGWALT ◽  
PIERRE MOULET
Keyword(s):  
Western Hemisphere ◽  
Type I ◽  
Type Ii ◽  
Type Iii ◽  
Spermathecal Duct ◽  
Eastern Hemisphere ◽  
Intermediate Part ◽  
Muscular Pump ◽  
Familial Classification

The morphology of the spermatheca is described in 109 species of 86 genera representing all four currently recognised subfamilies of Coreidae, covering the undivided Hydarinae, both tribes of Pseudophloeinae, all three tribes of Meropachyinae and 27 of the 32 tribes of Coreinae. Three types of spermatheca are recognised. Type I is bipartite, consisting only of a simple tube differentiated into distal seminal receptacle and proximal spermathecal duct and lacks the intermediate part present in most Pentatomomorpha, in which it serves as muscular pump. Type II is also bipartite but more elaborate in form with the receptacle generally distinctly wider than the duct. Type III is tripartite, with receptacle, duct and an often complex intermediate part. Four subtypes are recognised within type III. Type I is found only in Hydarinae and type II only in Pseudophloeinae. Type III is found in both Coreinae and Meropachyinae. Subtype IIIA (“Coreus-group”) unites many tribes from the Eastern Hemisphere and only one (Spartocerini) from the Western Hemisphere. Subtypes IIIB (“Nematopus-group”) and IIID (“Anisoscelis-group”) are confined to taxa from the Western Hemisphere and subtype IIIC (“Chariesterus-group”) is found in tribes from both hemispheres. The polarity of several characters of the intermediate part and some of the spermathecal duct is evaluated, suggesting autapomorphies or apomorphies potentially relevant to the classification of Coreidae at the sufamilial and tribal levels. Characters of the intermediate part strongly indicate that the separation of Meropachyinae and Coreinae as currently constituted cannot be substantiated. The tribes Anisoscelini, Colpurini, Daladerini and Hyselonotini are heterogeneous, each exhibiting two subtypes of spermatheca, and probably polyphyletic. Two tribes, Cloresmini and Colpurini, requiring further investigation remain unplaced. This study demonstrates the great importance of characters of the spermatheca, in particular its intermediate part, for research into the phylogeny and taxonomy of Pentatomomorpha. 

Split spinal cord malformations in children

1998 ◽  
Vol 88 (1) ◽  
pp. 57-65 ◽  
Author(s):  
Yusuf Ersşahin ◽  
Saffet Mutluer ◽  
Sevgül Kocaman ◽  
Eren Demirtasş
Keyword(s):  
Spinal Cord ◽  
Neurological Deficits ◽  
Single Type ◽  
Type I ◽  
Type Ii ◽  
Content Type ◽  
Spinal Lesion ◽  
The Mean ◽  
Fine Print

Object. The authors reviewed and analyzed information on 74 patients with split spinal cord malformations (SSCMs) treated between January 1, 1980 and December 31, 1996 at their institution with the aim of defining and classifying the malformations according to the method of Pang, et al. Methods. Computerized tomography myelography was superior to other radiological tools in defining the type of SSCM. There were 46 girls (62%) and 28 boys (38%) ranging in age from less than 1 day to 12 years (mean 33.08 months). The mean age (43.2 months) of the patients who exhibited neurological deficits and orthopedic deformities was significantly older than those (8.2 months) without deficits (p = 0.003). Fifty-two patients had a single Type I and 18 patients a single Type II SSCM; four patients had composite SSCMs. Sixty-two patients had at least one associated spinal lesion that could lead to spinal cord tethering. After surgery, the majority of the patients remained stable and clinical improvement was observed in 18 patients. Conclusions. The classification of SSCMs proposed by Pang, et al., will eliminate the current chaos in terminology. In all SSCMs, either a rigid or a fibrous septum was found to transfix the spinal cord. There was at least one unrelated lesion that caused tethering of the spinal cord in 85% of the patients. The risk of neurological deficits resulting from SSCMs increases with the age of the patient; therefore, all patients should be surgically treated when diagnosed, especially before the development of orthopedic and neurological manifestations.

Sign in / Sign up

Export Citation Format

Share Document