Iatrogenic chimerism in a patient with Fanconi anemia and delayed puberty

GYNECOLOGY ◽  
2020 ◽  
Vol 22 (2) ◽  
pp. 35-37
Author(s):  
Zaira Kh. Kumykova ◽  
Irina A. Kiseleva ◽  
Zalina K. Batyrova ◽  
Olga A. Buyanovskaya

The article presents a clinical case of delayed puberty in a 13-year-old girl with Fanconi anemia who was sent to the Department of gynecology of children and adolescents for removal of the sexual glands due to the detection of a Y-chromosome in the karyotype at the place of residence. A personalized multidisciplinary approach to the management of a patient with Fanconi anemia with the presence of the Y-chromosome in the karyotype against the background of delayed puberty allowed to identify iatrogenic chimerism and avoid unjustified castration.

2020 ◽  
Vol 19 (4) ◽  
pp. 143-149
Author(s):  
S. S. Saliyeva ◽  
R. Z. Boranbayeva ◽  
B. M. Zhumadullayev ◽  
K. E. Khairov ◽  
E. V. Krivenko ◽  
...  

Teratoma is a germ cell tumor, which consists of derivatives of three germ layers and has various malignant potentials – from benign mature forms to immature embryonic forms with a somatic type of malignancy. Even the mature type of teratoma is biologically unpredictable providing for an ability to grow locally with invasion. Necessity for complete removal of tumors, wherever they are located, is explained by the fact that there is a risk of a possible development of growing teratoma syndrome or transformation into malignant tumors. This article describes the clinical case of growing teratoma syndrome of mediastinal localization in a teenager with Klinefelter syndrome, also as an example of the multidisciplinary approach of pediatric oncologists, surgeons, radiotherapists and pathomorphologists in decision-making for optimal treatment. The patients' parents gave their consent to the use of their child's data, including photographs, for research purposes and in publications.


Author(s):  
M. R. Shaydullina ◽  
A. R. Shakirova ◽  
A. A. Zinatullina

Neonatal thyrotoxicosis is 1% of all cases of thyrotoxicosis in children and adolescents and it is mostly determined by the mother’s Graves’ disease. The most dangerous manifestations of neonatal thyrotoxicosis are intrauterine growth retardation, tachycardia, and heart rhythm disturbances. Timely diagnostics and beginning of treatment are of great importance due to the high risk of fatal cardiac disruption in the acute phase of the disease and its serious consequences for the body. The article presents a clinical case of a patient with neonatal thyrotoxicosis diagnosed only at the age of 1 month, despite the mother’s burdened anamnesis; it contains a plan for diagnostic search and tactics of child management.


2017 ◽  
Vol 0 (7.86) ◽  
pp. 101-105
Author(s):  
V.A. Sedinkin ◽  
А.М. Dokunina ◽  
V.О. Drozdova ◽  
E.V. Маksimova ◽  
М.N. Palega ◽  
...  

JGH Open ◽  
2020 ◽  
Vol 4 (2) ◽  
pp. 153-159 ◽  
Author(s):  
Stephanie C Brown ◽  
Kevin Whelan ◽  
Richard B Gearry ◽  
Andrew S Day

2001 ◽  
Vol 7 (2) ◽  
pp. 150-159 ◽  
Author(s):  
Mike Shaw

English law on young people's consent to treatment and competence is complex and can even appear contradictory. For example, competent minors can consent, but their refusal can be overruled by the consent of a person with parental authority or by the court. This paper is an attempt to make sense of the topic for clinicians. It includes a discussion of the law and the small body of relevant research evidence. There are clinical case examples, checklists and guidelines for good practice. However, it is not a substitute for legal advice, which should be sought wherever doubt remains.


2021 ◽  
Vol 2 (3) ◽  
pp. 151-157
Author(s):  
Julio Carlos Garnica-Palazuelos ◽  
Mercedes Bermúdez ◽  
Juan Luis Cota-Quintero ◽  
Gerardo Bueno-Acuña ◽  
Sandra Santana-Delgado ◽  
...  

Open bite can be defined as an absence of occlusion, most frequently located in the anterior region of dental arches and its etiology is multifactorial. We present a clinical case of an 8 years and 10 months child presenting an anterior open bite (AOB) with transverse maxillary deficiency caused by tongue thrust during mixed dentition. The malocclusion was corrected by means of a McNamara expander with a palatal crib jointly with the association of speech therapy for tongue repositioning, and otolaryngology to treat adenoid hypertrophy due to its correlation with AOB. The multidisciplinary approach was effective in correcting the malocclusion with stable results after 2 years post-treatment.


2020 ◽  
Vol 3 (1) ◽  
pp. 047-055
Author(s):  
Yuan Ke ◽  
Wang Chunlin

Premature ovarian insufficiency (POI) is a rare disease, especially in children and adolescents. It was previously called premature ovarian failure (POF). It can be manifested as delayed puberty, primary or secondary amenorrhea that occurred before the age of 40 years with no less than two abnormal serum sex hormones (low estrogen and high gonadotropin). It is reported that the incidence rate is 1% at the age of 40 years and 0.01% at the age of 20 years. Although the disease usually occurs in middle-aged and elderly women, clinical practice in recent years has shown that it has also been found in adolescents and even children. It is generally believed that the etiology of POI includes genetic factors, immune factors, and iatrogenic factors. So far, several genetic mutations that may cause POI have been found clinically, but the etiology of 90% of POI is still unknown. In recent years, the incidence of POI in children and adolescents has increased, and there are more urgent requirements for its early diagnosis, treatment, and clinical management. Based on this, this article will mainly review the research progress of the etiology, treatment, and clinical management of POI in children and adolescents.


2020 ◽  
Vol 179 (2) ◽  
pp. 63-67
Author(s):  
S. V. Stolov ◽  
M. Yu. Kabanov ◽  
K. V. Semencov ◽  
T. Yu. Yamshchikova ◽  
O. V. Makarova ◽  
...  

The article presents the clinical case of an abscess of the iliopsoas muscle (iliopsoitis), a rare abdominal infectious and inflammatory disease that required a multidisciplinary approach in the diagnosis of this pathology in a multidisciplinary hospital.


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