Clinical case of the late diagnosis of type-II schizencephaly

Cholangiocarcinoma in pregnancy (clinical case)

Hirurg (Surgeon) ◽

10.33920/med-15-2006-03 ◽

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.

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

Wiadomości Lekarskie ◽

10.36740/wlek202008137 ◽

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.

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

Open Journal of Orthopedics ◽

10.4236/ojo.2017.79025 ◽

2017 ◽

Vol 07 (09) ◽

pp. 235-240 ◽

Cited By ~ 1

Author(s):

Koné Samba ◽

Dogba Eric ◽

Nguianbanda Léandre ◽

Kouassi Adélaide ◽

Ledion Anicet ◽

...

Keyword(s):

Patellar Tendon ◽

Clinical Case ◽

Late Diagnosis

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Choledochoduodeninė fistulė: literatūros apžvalga ir klinikinio atvejo aprašymas

Lietuvos chirurgija ◽

10.15388/lietchirur.2013.4.2846 ◽

2013 ◽

Vol 12 (4) ◽

pp. 189-1950

Author(s):

Giedrė Krištopaitytė ◽

Edita Kazėnaitė ◽

Vitalijus Sokolovas

Keyword(s):

Abdominal Surgery ◽

Clinical Case ◽

Treatment Options ◽

Short Review ◽

Type Ii ◽

Ulcer Disease ◽

Nosological Entity ◽

Choledochoduodenal Fistula ◽

Report Presentation ◽

Upper Gastrointestinal

Choledochoduodeninė fistulė (CDF) yra retas, dažniausiai atsitiktinis virškinimo trakto vaizdinių tyrimų ar intraoperacinis radinys, sudarantis apie 1–2 % visų bilioenterinių fistulių. Dažniausi etiologiniai veiksniai – opaligė (proksimalinės CDF) ir cholelitiazė(distalinės CDF). Simptominių fistulių gydymui taikomos endoskopinės procedūros – ERCP su PST ir stentavimu arba operuojama. Šiame straipsnyje pateikiama trumpa literatūros apie CDF etiologiją ir gydymo metodus apžvalga ir aprašomasklinikinis atvejis, kai ligonė tirta ir gydyta nuo simptominės distalinės II tipo (pagal Ikedos klasifikaciją) fistulės, kuri galėjo susidaryti cholelitiazės fone.Reikšminiai žodžiai: choledochoduodeninė fistulė (CDF), cholelitiazė, endoskopinė retrogradinė cholangiopankreatikografija (ERCP).Choledochoduodenal fistula: literature review and case report presentation Choledochoduodenal fistula (CDF) is a rare nosological entity, commonly encountered as an accidental finding while exploring the upper gastrointestinal tract or during abdominal surgery. They account for 1–2% of all bilioenteric fistulas, the mostcommon etiological causes being peptic ulcer disease (proximal ones) or cholelithiasis (distal ones). For treating symptomatic cases, endoscopic procedures such as endoscopic retrogradic cholangiopancreaticography with papillosphincterotomy andstentation are applied, or the patient undergoes abdominal surgery. This article provides a short review based on this pathology, its etiological causes and treatment options. A clinical case of symptomatic distal choledochoduodenal fistula of type II(Ikeda) due to cholelithiasis is described.Keywords: choledochoduodenal fistula (CDF), cholelithiasis, endoscopic retrogradic cholangiopancreaticography (ERCP).

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

Clinical Medicine and Pharmacology ◽

10.12737/2409-3750-2021-7-2-12-16 ◽

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.

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Osteogenesis imperfecta: a literature review and a clinical case of a perinatal-lethal type of disease

Medical Council ◽

10.21518/2079-701x-2021-17-226-234 ◽

2021 ◽

pp. 226-234

Author(s):

L. Ya. Klimov ◽

T. M. Vdovina ◽

V. A. Pechenkina ◽

T. V. Zhelezniakova ◽

I. N. Zakharova ◽

...

Keyword(s):

Sequence Analysis ◽

Osteogenesis Imperfecta ◽

Dna Sequence ◽

Clinical Case ◽

Dna Sequence Analysis ◽

Heterozygous Mutation ◽

Osteogenesis Imperfecta Type ◽

Type Ii ◽

Col1a1 Gene

The article presents the modern views of clinicians and geneticists on one of the most severe genetic disorders of skeletal and connective tissues - osteogenesis imperfecta. The review provided the literature data that showed the incidence rates, genetic heterogeneity of osteogenesis imperfecta, as well as the role of some proteins involved in the construction of bone tissue, as well as a clinical classification of the main types of the disorder. The authors described a clinical case: a girl with typical clinical and radiological manifestations of the rarest of all types of osteogenesis imperfecta - type II (perinatal-lethal, congenital osteogenesis imperfecta, Vrolik’s syndrome). The child’s diagnosis was verified by a parallel DNA sequence analysis which showed a heterozygous mutation in exon 29 (c.1966G> A) of COL1A1 gene not previously described in the literature. It caused the substitution of glycine for serine at position 656. The role of antenatal diagnostics and the importance of medical genetic counselling of the family before planning the next pregnancy due to the existing risk of re-birth of a sick child is outlined. Due to the fact that majority of the patients with the most prognostically unfavourable type II osteogenesis imperfecta, as a rule, die in utero, the described case of observation of the girl with typical clinical and X-ray signs of the disorder for almost 3 months of postpartum period is extremely rare and highly indicative. The detection of the heterozygous mutation in exon 29 (c.1966G > A) of COL1A1 gene by a parallel DNA sequence analysis which was not previously described in the literature gives an additional significance to the described observation.

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Late diagnsis of Fabry disease at the stage of cardiac involvement

Jounal of arrhythmology ◽

10.35336/va-2021-1-64-67 ◽

2021 ◽

Vol 28 (1) ◽

pp. 64-67

Author(s):

L. N. Malyugina ◽

V. K. Lebedeva ◽

E. A. Osipova ◽

S. V. Moiseev ◽

P. I. Novikov

Keyword(s):

Case Report ◽

Fabry Disease ◽

Clinical Manifestation ◽

Cardiac Arrhythmias ◽

Clinical Case ◽

Cardiac Involvement ◽

Late Diagnosis ◽

Conduction Abnormalities ◽

Classic Phenotype

A clinical case report of late diagnosis (in relation to clinical manifestation) of the classic phenotype of Fabry disease in patient with cardiac involvement: phenocopy of hypertrophy cardiomyopathy, cardiac arrhythmias and conduction abnormalities.

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Aggressive course of bronchial cancer

Health and Ecology Issues ◽

10.51523/2708-6011.2020-17-3-18 ◽

2020 ◽

pp. 119-122

Author(s):

A. V. Pronevich ◽

P. N. Kovalchuk

Keyword(s):

Mortality Rate ◽

High Mortality ◽

Clinical Case ◽

Late Diagnosis ◽

Bronchial Cancer

The article describes a clinical case of bronchial cancer without radiologic changes. This is often associated with late diagnosis of the disease and a high mortality rate of this pathology.

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