scholarly journals FAMILIAL INTRAHEPATIC CHOLESTASIS IN CHILDREN: PROBLEMS AND PROSPECTS

Author(s):  
Galina V. Volynets

The review presents various aspects of the clinic and diagnosis of familial intrahepatic cholestasis (FIC) in children, including such forms of liver pathology as progressive FIC (PFIC) types 1-5; PFIC associated with mutations in the MYO5B gene; non-progressive forms of intrahepatic cholestasis (benign recurrent IC, gestational IC, drug-induced cholestasis, hypophospholipid-associated cholelithiasis and liver cancer accompanied by cholestasis). The main methods for the diagnosis and treatment of cholestatic diseases in children are described. The feasibility of using full-exomic sequencing for the accurate diagnosis of HPV in children is shown.

2021 ◽  
Author(s):  
Haicaho Zhao ◽  
Changzhou Chen ◽  
Jiefeng He

Liver cancer will continue to be a major disease threatening the lives and health of our people in the next few decades. In recent years, with the development of early diagnosis and treatment of liver cancer, precise liver resection, and the development of targeted and immunotherapeutic drugs, the survival rate of liver cancer patients has been improved. Nevertheless, due to the high heterogeneity of liver cancer, patients with liver cancer in the same clinical stage still have great differences in response to treatment and prognosis. New staging and classification indicators are urgently needed to facilitate accurate diagnosis and treatment of liver cancer, so as to further improve the survival rate of patients. The continuous progress and development of multi-omics technology, single-cell technology, tumor molecular visualization technology and medical artificial intelligence, etc., make the molecular classification of liver cancer more and more approaching the true nature of tumor biological characteristics, thus contributing to the accurate diagnosis and treatment of liver cancer.


2014 ◽  
Vol 16 (12) ◽  
pp. 1273-1282 ◽  
Author(s):  
Gülmisal Güder ◽  
Susanne Brenner ◽  
Stefan Störk ◽  
Arno Hoes ◽  
Frans H. Rutten

2015 ◽  
Vol 15 ◽  
pp. 84-89 ◽  
Author(s):  
L. Aggenbach ◽  
G.G. Zeeman ◽  
A.E.P. Cantineau ◽  
S.J. Gordijn ◽  
H.S. Hofker

PEDIATRICS ◽  
1965 ◽  
Vol 36 (6) ◽  
pp. 930-932
Author(s):  
Edward A. Mortimer ◽  
Bernard Boxerbaum

In spite of adequate means of therapy, streptococcal disease and its complications continue to present problems to the physician who cares for children. For accurate diagnosis and control of streptococcal disease inexpensive bacteriologic culture facilities are required and the physician must assure himself of the accuracy of the results. To prevent the sequelae of streptococcal occal pharyngitis, therapy sufficient to eradicate the offending organism is required. Optimum therapy of streptococcal infections is intramuscular benzathine penicillin; oral therapy with penicillin or erythromycin should be followed by a throat culture to ensure that the streptococcus has been erdicated.


2017 ◽  
Vol 11 (3) ◽  
pp. 221-241 ◽  
Author(s):  
Yue-cheng Yu ◽  
◽  
Yi-min Mao ◽  
Cheng-wei Chen ◽  
Jin-jun Chen ◽  
...  

2020 ◽  
Vol 27 (3) ◽  
pp. 42-52
Author(s):  
G. A. Golovina ◽  
K. V. Zaphiraki ◽  
E. D. Kosmacheva

In this review drug-induced long QT interval syndrome is described. The authors discuss approaches for the prevention, diagnosis, and treatment of this potentially fatal complication.


Blood ◽  
2021 ◽  
Author(s):  
Mari Thomas ◽  
Marie Scully

Microangiopathic hemolytic anemia (MAHA) in patients with cancer requires urgent diagnosis and treatment. MAHA associated with thrombocytopenia, suggests a thrombotic microangiopathy (TMA), where there is thrombus formation affecting small or larger vessels. It may be directly related to the underlying malignancy (either the initial presentation or with progressive disease); to its treatment or it may be a separate incidental diagnosis. Although less common, it is vital to differentiate incidental thrombotic thrombocytopenia purpura (TTP) or atypical haemolytic uraemic syndrome (aHUS) in cancer patients presenting with a TMA as quickly as possible, as they have different treatment strategies, and prompt initiation of treatment has a critical impact on outcome. In the oncology patient, widespread microvascular metastases or extensive bone marrow involvement can cause MAHA and thrombocytopenia. A disseminated intravascular coagulation (DIC) picture may be precipitated by sepsis or driven by the cancer itself. Cancer therapies may cause a TMA either by dose-dependent toxicity, or an idiosyncratic immune-mediated reaction after development of drug-dependent antibodies. Many of the causes of TMA seen in the oncology patient do not respond to plasma exchange and, where feasible, treatment of the underlying malignancy is important in controlling both cancer-TMA and DIC driven by the disease. The potential for drug-induced TMA should be considered and any putative causal agent stopped. We will discuss the differential diagnosis and treatment of MAHA in patients with cancer using clinical cases to highlight management principles.


1992 ◽  
Vol 71 (5) ◽  
pp. 233-237 ◽  
Author(s):  
Kevin S. Kennedy ◽  
Gregg S. Parker

Subglottic and tracheal malignancies are the least frequently encountered laryngeal cancers. When these tumors are encountered, they have often reached advanced size prior to producing symptoms. Once symptoms are brought to the attention of the otolaryngologist, rapid and accurate diagnosis is essential to effect the earliest possible treatment and to minimize morbidity and mortality associated with this problem. Illustrative cases are presented including a highly unusual case that presented with cardiac-like chest pain. A review of the literature including the pertinent anatomy, pathophysiology, and methods of diagnosis and treatment is presented. Increased familiarity with this disease process and a high index of suspicion on the part of the otolaryngologist may lead to improved survival patterns in patients with these malignancies.


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