scholarly journals Family hyperaldosteronism type I: a clinical case and review of literature

2018 ◽  
Vol 90 (9) ◽  
pp. 115-122
Author(s):  
N M Chikladze ◽  
O O Favorova ◽  
I E Chazova
Keyword(s):  
Adrenocorticotropic Hormone ◽  
Clinical Case ◽  
Clinical Course ◽  
Chimeric Gene ◽  
Monogenic Disease ◽  
Type I ◽  
Review Of Literature ◽  
Aldosterone Secretion ◽  
Rare Form ◽  
Cerebrovascular Complications

Family hyperaldosteronism type I (glucocorticoids-remediable hyperaldosteronism) is a rare form of symptomatic arterial hypertension (AH), which often leads to the development of cerebrovascular complications. The disease is caused by the formation of the chimeric gene CYP11B2/CYP11B1. Expression of the chimeric gene is regulated by adrenocorticotropic hormone, and glucocorticoid therapy leads to a decrease in aldosterone secretion and normalization of blood pressure. The article presents the first clinical case of this monogenic disease diagnosed by us in Russia. The features of clinical course and treatment of the patient have been traced in the dynamics for 40 years of observation. Modern approaches to the diagnosis and treatment of this rare family form of hypertension are discussed.

scholarly journals ACROKERATOELASTOIDOSIS COSTA: REVIEW OF LITERATURE AND DESCRIPTION OF THE CLINICAL CASE

2018 ◽  
Vol 21 (2) ◽  
pp. 110-112
Author(s):  
M. A Ufimtseva ◽  
Yu. M Bochkarev ◽  
K. I Nikolaeva ◽  
S. A Akulova
Keyword(s):  
Skin Disease ◽  
Clinical Case ◽  
Medical Examination ◽  
Review Of Literature ◽  
Rare Form ◽  
Medical Examinations

The review of literature and clinical case of an acrokeratoelastoidosis Costa as rare form of a focal keratodermiya is presented in article. This dermatosis is characterized by symmetric hyperkeratical papular eruptions, settling down mainly on the lateral surfaces of palms and soles. Acrokeratoelastoidosis it is necessary to differentiate both with hereditary limited keratodermiya, and with a widespread infectious skin disease - viral warts that is important at inspection on medical examinations of persons the decreed groups. The patient sent from preliminary medical examination at employment to preschool institution at whom originally rashes have been taken for display of multiple palmar and plantar viral warts is described.

scholarly journals Cardiovascular involvement in alpha-n-acetyl neuraminidase deficiency syndromes (sialidosis type I and II)

2021 ◽  
pp. 1-3
Author(s):  
Priyanka Prasanna ◽  
Chenni S. Sriram ◽  
Sarah H. Rodriguez ◽  
Utkarsh Kohli
Keyword(s):  
Autosomal Recessive ◽  
Ventricular Dysfunction ◽  
Clinical Presentation ◽  
Clinical Course ◽  
Rare Condition ◽  
Autosomal Recessive Disorder ◽  
Left Ventricular ◽  
Type I ◽  
Neonatal Onset ◽  
Cardiovascular Involvement

Abstract Sialidosis, a rare autosomal recessive disorder, is caused by a deficiency of NEU1 encoded enzyme alpha-N-acetyl neuraminidase. We report a premature male with neonatal-onset type II sialidosis which was associated with left ventricular dysfunction. The clinical presentation and subsequent progression which culminated in his untimely death at 16 months of age are succinctly described. Early-onset cardiovascular involvement as noted in this patient is not well characterised. The case report is supplemented by a comprehensive review of the determinants, characteristics, and the clinical course of cardiovascular involvement in this rare condition.

Glycogen storage disease type I a: Frequency and clinical course in Turkish children

2000 ◽  
Vol 67 (7) ◽  
pp. 497-501 ◽  
Author(s):  
Inci Nur Saltik ◽  
Hasan Özen ◽  
Gönenç Ciliv ◽  
Nurten Koçak ◽  
Aysel Yüce ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Clinical Course ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type I ◽  
Turkish Children

Leukemization of Follicular Lymphoma: Diagnostic Features and Clinical Course of a Rare Form of the Disease

2016 ◽  
Vol 16 ◽  
pp. S111
Author(s):  
Ekaterina Nesterova ◽  
Alla Kovrigina ◽  
Jana Mangasarova ◽  
Lybov Plastinina ◽  
Tatyana Obukhova ◽  
...  
Keyword(s):  
Follicular Lymphoma ◽  
Clinical Course ◽  
Rare Form ◽  
Diagnostic Features

scholarly journals Pigmented Bowen’s disease mimicking melanoma clinically and dermoscopically

2014 ◽  
Vol 72 (1) ◽  
Author(s):  
Daniel Holanda Daniel
Keyword(s):  
Carcinoma In Situ ◽  
Clinical Case ◽  
Left Thigh ◽  
Bowen’S Disease ◽  
Seborrheic Keratosis ◽  
Cutaneous Lesions ◽  
Rare Form ◽  
Bowen's Disease ◽  
Basal Cell Carcinomas

A variety of cutaneous lesions can mimic melanoma, such as melanocytic nevi, lentigines, seborrheic keratosis, blue nevi, pigmented basal cell carcinomas and dermatofibromas. This report describes a rare clinical case of a female patient who presented a lesion on the left thigh, which was clinically and dermoscopically compatible with melanoma. The patient underwent excision of the lesion, and histopathology confirmed a diagnosis of pigmented Bowen’s disease. The purpose of this report is to draw attention to the fact that pigmented Bowen’s disease, a rare form of squamous cell carcinoma in situ, should also be considered as a differential diagnosis of malignant melanoma.  

scholarly journals NON-SPECIFIC ULCERATIVE COLITIS AND COVID-19, A CASE STUDY

2021 ◽  
Vol 5 (1) ◽  
pp. 89-92
Author(s):  
Z. P. Lemeshevskaya ◽  
◽  
M. V. Pavlukevich ◽  
N. I. Procopchik ◽  
◽  
...  
Keyword(s):  
Ulcerative Colitis ◽  
Clinical Case ◽  
Clinical Laboratory ◽  
Clinical Course ◽  
Medical Documentation ◽  
Atypical Form ◽  
History Of ◽  
Hematoxylin And Eosin ◽  
Somatic Diseases

Background. COVID-19 infection keeps changing our understanding of its clinical course when associated with various somatic diseases. Objective. To present a clinical case of a patient with non-specific ulcerative colitis (NUC) and COVID-19 infection. Material and methods: medical documentation, general clinical, laboratory and instrumental data as well as histological examination of bioptates stained with hematoxylin and eosin that were obtained during colonoscopy. Results. The article presents a case history of a patient with manifestations of severe total NUC developed in association with the subclinical form of COVID-19 infection, the former being the cause of death in concomitant pathology. Conclusions. This clinical case describes a variant of an unfavorable outcome of NUC, one of the reasons for the manifestation of which was the atypical form of COVID-19 infection, which became a trigger for an autoimmune inflammatory process in the intestine. The accumulation of new knowledge about the features of the pathogenesis and manifestations of both pathologies will make it possible to improve the effectiveness of treatment and predict the course and outcomes of combined pathology.

scholarly journals Orthotopic Liver Transplantation for Hereditary Hemorrhagic Telangiectasia and MEN Type I Syndrome - Case Report and Review of Literature

Chirurgia ◽  
2018 ◽  
Vol 113 (6) ◽  
pp. 837
Author(s):  
Mihnea-Ioan Ionescu ◽  
Ian David Edwin Nesbitt ◽  
Colin Hugh Wilson ◽  
Samantha Erica Saikia ◽  
David Talbot
Keyword(s):  
Liver Transplantation ◽  
Case Report ◽  
Orthotopic Liver Transplantation ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Type I ◽  
Review Of Literature

scholarly journals Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease

2008 ◽  
Vol 158 (5) ◽  
pp. 705-709 ◽  
Author(s):  
Ng'weina F. Magitta ◽  
Mikuláš Pura ◽  
Anette S Bøe Wolff ◽  
Peter Vanuga ◽  
Anthony Meager ◽  
...  
Keyword(s):  
Addison’S Disease ◽  
Monogenic Disease ◽  
Adrenal Crisis ◽  
Addison's Disease ◽  
Type I ◽  
Syndrome Type ◽  
Exon 2 ◽  
Clinical Criteria ◽  
Autoimmune Polyendocrine Syndrome ◽  
Major Mutation

BackgroundAutoimmune polyendocrine syndrome type I (APS I) is a monogenic disease affecting endocrine glands and other organs due to mutations of the autoimmune regulator (AIRE) gene. There is a wide variability in clinical phenotypes in patients with APS I, which makes the diagnosis a challenge.ObjectiveTo screen for APS I among Slovakian patients with sporadic Addison's disease and clinical features that raised the suspicion of APS I.MethodsAll 14 exons and exon–intron boundaries of the AIRE gene were sequenced. In addition, autoantibodies specific for Addison's disease and polyendocrine syndromes were assayed.ResultsUsing clinical criteria we identified four patients with APS I in three families. Two patients had a novel missense mutation in exon 2 (c.274C>T, p.R92W) and either the Finnish major mutation (c.769C>T) or the common 13 bp deletion (c.967–979del13bp). APS I was diagnosed in a brother of the latter after his death due to an adrenal crisis. A fourth patient had primary adrenal failure and hypoparathyroidism without AIRE mutations or APS-I specific autoantibodies.ConclusionsFour patients with APS I were found in a Slovakian cohort of Addison patients, although the lack of detectable AIRE mutations and APS I-specific autoantibodies raises uncertainty regarding the pathogenesis in one of the patients. This study demonstrates the merits of screening patients with phenotypic features or autoantibody findings that could indicate APS I, even in adult patients. It is necessary to identify APS I patients in order to provide appropriate treatment and follow-up of the various components of APS I.

Neurofibromatosis Type I: Clinical Case Report with Exuberant Cutaneous Manifestation

2018 ◽  
Vol 126 (3) ◽  
pp. e56
Author(s):  
Tamara Fernandes De Castro ◽  
Gustavo Zanna Ferreira ◽  
Lilian Cristina Vessoni Iwaki ◽  
Mariliani Chicarelli Da Silva ◽  
Neli Pieralisi ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Case ◽  
Neurofibromatosis Type ◽  
Cutaneous Manifestation ◽  
Type I ◽  
Neurofibromatosis Type I

Combined urogenital abnormalities of development and the formation of reproductive health in girls

2021 ◽  
Vol 25 (6) ◽  
pp. 99-105
Author(s):  
Yu. Yu. Chebotareva ◽  
G. M. Letifov ◽  
M. A. Rodina
Keyword(s):  
Urinary Tract Infection ◽  
Urinary Tract ◽  
Reproductive Health ◽  
Tract Infection ◽  
Clinical Case ◽  
Recurrent Urinary Tract Infection ◽  
Practical Importance ◽  
Type I ◽  
Functional Features ◽  
Clinical Cases

BACKGROUND. Anomalies in the development of the uterus and vagina in some cases are combined with defects of the urinary tract. Therefore, the analysis of clinical situations associated with combined urogenital pathology in girls is of current and practical importance.THE AIM: to assess the state of reproductive health in girls with reproductive anomalies, renal agenesis, and other diseases of the urinary tract.PATIENTS AND METHODS. The study was conducted in 5 adolescent girls, including 3 patients with kidney agenesis, 1 patient with dysmetabolic nephropathy and nephroptosis, and 1 patient with recurrent urinary tract infection. In the analysis of clinical cases, the anatomical and functional features of the reproductive system are presented.RESULTS. The first 3 clinical cases are associated with the presence of kidney agenesis in the girl. In 1 clinical case, the clinic of the Mayer-Rokitansky-Kuester-Hauser syndrome (SMRKH) type II, including aplasia of the uterus and vagina and renal malformation, is presented. In clinical case 2, it was shown that modern transabdominal ultrasound examination of the pelvic organs, similar to MRI, can reveal the Herlin-Werner-Wunderlich syndrome. Agenesis of the kidney is one of the manifestations of trisomy of 22 pairs of chromosomes, which was noted in a patient from 3 clinical cases. 4 clinical cases is associated with the fact that kidney pathology, including nephroptosis, dysmetabolic nephropathy, can be combined with impaired sexual development. In 5 clinical case, type I SMRCC was described in a patient with recurrent urinary tract infection.CONCLUSION. Congenital malformations of the female genital organs are a rare pathology that requires special attention. Due to insufficient data concerning the mechanism of development of malformations of the genitourinary system, this problem requires further detailed study.

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