scholarly journals COMPLEX ORPHAN PATHOLOGY: COMORBIDITY OF MUCOVISCIDOSIS AND CONGENITAL DYSFUNCTION OF ADRENAL GLANDS CORTEX (REFERENCES REVIEW AND OWN RESEARCH)

2020 ◽  
Vol 73 (8) ◽  
pp. 1790-1795
Author(s):  
Mariana A. Ryznychuk ◽  
Vasyl P. Pishak ◽  
Тatiana V. Khmara ◽  
Nataliia V. Bachuk-Ponych ◽  
Valentyna N. Pidgirna ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Clinical Case ◽  
Adrenal Glands ◽  
Late Diagnosis ◽  
Substitution Therapy ◽  
Adrenogenital Syndrome ◽  
Mixed Form ◽  
Pathological Conditions ◽  
Appropriate Therapy ◽  
Viral Form

The aim: The clinical case was studied: comorbidity of mucoviscidosis and congenital dysfunction of adrenal glands cortex. Materials and methods: The clinical case of combined orphan pathology – cystic fibrosis and congenital dysfunction of adrenal glands cortex (adrenogenital syndrome) has been described. Clinical case: A 2-month child has been diagnosed with mucoviscidosis, of a mixed form, which was genetically confirmed. The proband and the father were found to be heterozygotes for the F508del mutation of the CFTR gene (the father suffers from mucoviscidosis). Congenital dysfunction of the adrenal glands, a viral form, was diagnosed when he was three years old. The child is currently receiving: Creon 100 000 units per day with eating, Colomycin 1 vial per day, Pulmozyme 2.5 mg/2.5 ml daily in the morning for inhalations, Ursofalk 600 mg every day constantly, Hydrocortisone 50 mg/day. Conclusions: This clinical case can be attributed to rare, as most such pathological conditions are usually diagnosed in maternity homes along with the prescription of appropriate therapy. This is an example of late diagnosis of the viral form of congenital adrenal dysfunction against the background of cystic fibrosis, indicating the need for earlier detection and timely introduction of substitution therapy to improve favourable prognosis for a disease.

scholarly journals ACUTE PANCREATITIS AND LIVER CIRRHOSIS IN A CHILD WITH A «MILD GENOTYPE» OF CYSTIC FIBROSIS: AN ANALYSIS OF THE CLINICAL CASE

2019 ◽  
Vol 21 (3) ◽  
pp. 188-192
Author(s):  
Anastasia V. Goryainova ◽  
S. V. Belmer ◽  
N. Yu. Kashirskaya ◽  
S. Yu. Semykin
Keyword(s):  
Cystic Fibrosis ◽  
Acute Pancreatitis ◽  
Liver Cirrhosis ◽  
Clinical Case ◽  
Cftr Gene ◽  
Mixed Form

A rare clinical case of the development of acute pancreatitis in adolescents with a mixed form of cystic fibrosis having a “mild genotype” of the disease (“mild mutation” of the CFTR gene) and simultaneously the presence of cystic fibrosis-associated liver cirrhosis in this patient is described. Such a combination is extremely rare observed in cases with “mild” mutations in the CFTR gene.

Cholangiocarcinoma in pregnancy (clinical case)

2020 ◽  
pp. 19-27
Author(s):  
A. Yu. Ralnikova ◽  
V. F. Bezhenar ◽  
B. V. Arakelyan ◽  
N. A. Tatarova ◽  
M. E. Malysheva
Keyword(s):  
Pregnant Woman ◽  
Clinical Case ◽  
Clinical Observation ◽  
Late Diagnosis ◽  
Biliary Cancer ◽  
In Pregnancy

The article discusses the problems of diagnosing biliary cancer during pregnancy, proceeding under the guise of complications associated with gestation. A clinical observation of late diagnosis of cholangiocarcinoma in a pregnant woman is presented.

"BREAK-THROUGH IN CYSTIC FIBROSIS"

PEDIATRICS ◽  
1961 ◽  
Vol 27 (3) ◽  
pp. 351-353
Author(s):  
LEROY W. MATTHEWS ◽  
SAMUEL SPECTOR
Keyword(s):  
Cystic Fibrosis ◽  
Present Knowledge ◽  
Good News ◽  
Promotional Material ◽  
Substitution Therapy ◽  
Pharmaceutical Development ◽  
Uncritical Acceptance

IT WOULD BE good news indeed if a "break-through through in cystic fibrosis" was really here as has been put forth in the promotional material on Cotazym by Organon, Inc. in an energetic campaign to sell their pancreatic preparation. Uncritical acceptance of unsupported statements in this promotional material would actually be a set-back in the comprehension of present knowledge of cystic fibrosis and the place of pancreatic substitution therapy in the management of patients with this disorder. False hope may be raised in physicians and in the parents of the unfortunate victims of this distressing disease. Though we do not wish to minimize the importance of the pharmaceutical development of an improved pancreatin preparation we believe that presenting Cotazym as a "break-through in cystic fibrosis" is unwarranted and misleading.

scholarly journals Clinical case of myocardial infarction with unspecified familial hypercholesterolemia

2022 ◽  
Vol 17 (4) ◽  
pp. 74-78
Author(s):  
N. G. Lozhkina ◽  
A. N. Spiridonov
Keyword(s):  
Myocardial Infarction ◽  
Familial Hypercholesterolemia ◽  
Clinical Case ◽  
Autosomal Dominant ◽  
Clinical Symptoms ◽  
Cholesterol Metabolism ◽  
Single Gene ◽  
Low Density Lipoproteins ◽  
Dominant Disease ◽  
Appropriate Therapy

Familial hypercholesterolemia is a hereditary autosomal dominant disease characterized by a violation of cholesterol metabolism. This nosology was first described in the late 1930s by the Norwegian clinician Karl Moeller, he proposed the idea that hypercholesterolemia and tendon xanthomas are associated with cardiovascular diseases through the inheritance of a single gene. In 1964, two clinical phenotypes of familial hypercholesterolemia were discovered: heterozygous and homozygous, associated with an unfavorable prognosis. To date, it is known that the long-running process of accumulation of low-density lipoproteins in the intima of blood vessels may not have clinical symptoms for many years due to the developed system of collaterals and the absence of hemodynamically significant stenosis. However, without timely diagnosis and appropriate therapy, this condition inevitably leads to the development of a cardiovascular event. The article presents a clinical case demonstrating the development of myocardial infarction in a patient with a late diagnosis of this disease.

scholarly journals Clinical Case of Bilateral Rupture of the Patellar Tendon of the Late Diagnosis

2017 ◽  
Vol 07 (09) ◽  
pp. 235-240 ◽  
Author(s):  
Koné Samba ◽  
Dogba Eric ◽  
Nguianbanda Léandre ◽  
Kouassi Adélaide ◽  
Ledion Anicet ◽  
...  
Keyword(s):  
Patellar Tendon ◽  
Clinical Case ◽  
Late Diagnosis

scholarly journals 19-Hydroxy steroids in the aromatase reaction: Review on expression and potential functions

2021 ◽  
Author(s):  
Tatjana Abaffy ◽  
Hiroaki Matsunami
Keyword(s):  
Adrenal Glands ◽  
Ovarian Function ◽  
Scientific Evidence ◽  
Future Research ◽  
Analytical Sensitivity ◽  
Biological Processes ◽  
Search Terms ◽  
Pathological Conditions ◽  
Pubmed Database ◽  
The Brain

Abstract Scientific evidence related to the aromatase reaction in various biological processes spanning from mid-1960 is abundant, however, as our analytical sensitivity increases, a new look at the old chemical reaction is necessary. Here, we review an irreversible aromatase reaction from the substrate androstenedione. It proceeds in 3 consecutive steps. In the first two steps, 19-hydroxy steroids are produced. They can dissociate from the enzyme complex and either accumulate in tissues or enter the blood.In this review, we want to highlight the potential importance of these 19-hydroxy steroids in various physiological and pathological conditions. We focus primarily on 19-hydroxy steroids, and in particular on the 19-hydroxyandrostenedione produced by the incomplete aromatase reaction. Using a PubMed database and search terms aromatase reaction,19-hydroxylation of androgens and steroid measurements, we detail the chemistry of the aromatase reaction and list previous and current methods used to measure 19-hydroxy steroids. We present the evidence of the existence of 19-hydroxy steroids in the brain tissue, ovaries, testes, adrenal glands, prostate cancer and also during pregnancy and parturition and in Cushing’s disease. Based on the available literature, a potential involvement of 19-hydroxy steroids in the brain differentiation process, sperm motility, ovarian function, and hypertension is suggested and warrant future research.We hope that with the advancement of highly specific and sensitive analytical methods, future research into 19-hydroxy steroids will be encouraged, as much remains to be learned and discovered.

Steroid osteoporosis within the framework of the Itsenko-Cushing drug syndrome: demonstration of a clinical case

2021 ◽  
Vol 7 (2) ◽  
pp. 12-16
Author(s):  
A. Fleyshman ◽  
Elena Belyaeva
Keyword(s):  
Young Patient ◽  
Clinical Case ◽  
Underlying Disease ◽  
Late Diagnosis ◽  
High Dose ◽  
Still’S Disease ◽  
Multiple Fractures ◽  
Medical Supervision ◽  
And Control

A case of severe systemic osteoporosis complicated by multiple fractures of the ribs and vertebrae in a young patient with late diagnosis of Still's disease as a result of independent long-term uncontrolled use of corticosteroids is presented. Lack of medical supervision, taking a high dose (35 mg / day) of prednisolone without recommendation and control of treatment led to untimely recognition and treatment of the underlying disease and the development of irreversible disabling transformations of the skeleton.

P019 Late diagnosis of cystic fibrosis as a consequence of normal IRT concentration in Newborn Screening for Cystic Fibrosis - false negative

2020 ◽  
Vol 19 ◽  
pp. S60
Author(s):  
K. Zybert ◽  
U. Borawska-Kowalczyk ◽  
M. Dawidziuk ◽  
M. Mielus ◽  
M. Ołtarzewski ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
False Negative ◽  
Late Diagnosis
Sign in / Sign up

Export Citation Format

Share Document