scholarly journals CLINICAL CASE OF DEVELOPMENT OF PLEUROPULMONARY BLASTOMA I TYPE WITH TRANSFORMATION INTO TYPE II IN A CHILD OF 2.5 YEARS

2017 ◽  
Vol 4 (3) ◽  
pp. 97-101
Author(s):  
T. V. Sergeeva ◽  
D. Yu. Kachanov ◽  
Т. V. Shamanskaya ◽  
A. P. Shcherbakov ◽  
G. V. Tereshchenko ◽  
...  
Keyword(s):  
Clinical Case ◽  
Pleuropulmonary Blastoma ◽  
Type Ii

scholarly journals Choledochoduodeninė fistulė: literatūros apžvalga ir klinikinio atvejo aprašymas

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).

The impact of local control in the treatment of type II/III pleuropulmonary blastoma. Experience of the Cooperative Weichteilsarkom Studiengruppe (CWS)

2017 ◽  
Vol 115 (2) ◽  
pp. 164-172 ◽  
Author(s):  
Monika Sparber-Sauer ◽  
Guido Seitz ◽  
Sylvia Kirsch ◽  
Christian Vokuhl ◽  
Ivo Leuschner ◽  
...  
Keyword(s):  
Local Control ◽  
Pleuropulmonary Blastoma ◽  
Type Ii ◽  
The Impact

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

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.

scholarly journals Comorbid Cardiovascular Malformation and Type II Mucolipidosis: Clinical Case

2020 ◽  
Vol 17 (5) ◽  
pp. 459-466
Author(s):  
Nina V. Fedorova ◽  
Natalia V. Zhurkova ◽  
Nato D. Vashakmadze ◽  
Marina A. Babaykina ◽  
Grigory V. Revunenkov ◽  
...  
Keyword(s):  
Clinical Case ◽  
Type Ii ◽  
Cardiovascular Malformation

scholarly journals Clinical Case of Pregnancy and Follow-Up of Bartter Syndrome (Type II) with a Novel Mutation

2020 ◽  
pp. 1-5
Author(s):  
Laura Lūse ◽  
Anna Miskova ◽  
Dace Rezeberga ◽  
Gita Jansone ◽  
Kristīne Rasnača ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Case ◽  
Clinical Course ◽  
Novel Mutation ◽  
Bartter Syndrome ◽  
Psychomotor Development ◽  
Syndrome Type ◽  
Type Ii ◽  
Present Case Report ◽  
Normal Ranges

Background: Bartter syndrome is a rare autosomal recessive inherited salt wasting tubulopathy, it`s incidence proportion is 1.2 cases per 1.000.000 live births. The present case - report discusses a clinical case of an antenatal Bartter syndrome (type II) with a novel mutation and it`s course from antenatal presentation to 6 months postpartum. Case Presentation: The case-report discusses a clinical case of an antenatal Bartter syndrome (type II) with a novel homozygous missense variant mutation in KCNJ1 gene: c.554C>T (p. Pro185Leu). Symptoms presented from 24 weeks of pregnancy as premature labour threats, maternal dyspnoea and severe polyhydramnios (amniotic fluid index 36 cm). Therapeutic interventions included use of indomethacin, dexamethasone, micronized progesterone and three consequent amnioreductions. Pregnancy was prolonged until 32 weeks and induced due to severe reoccurring polyhydramnios, progressing maternal dyspnoea and inability to perform next amnioreduction. Labour was complicated by severe placental abruption and new born – boy was referred to neonatal intensive care unit. Neonatal period was complicated by electrolyte abnormalities: hyponatremia, hypochloremic metabolic alkalosis, transient hyperkalaemia that gradually developed into hypokalaemia, hypercalcemia and elevated rennin and aldosterone levels characteristic to type II Bartter syndrome. At 6 months (corrected age 4 months) he is gaining weight within normal ranges and his psychomotor development is ahead of his corrected age, without any need for daily medications. Conclusion: The present case report describes the clinical course of a Bartter syndrome is of high importance, due to the reason that it shows clinical course of patient with novel mutation and offers one of the ways how to manage the disease. The described novel mutation may have favourable prognosis for neonate. The pregnancy should be managed as high-risk pregnancy with expertise in perinatal diagnostics and interventions. Early recognition, and interventions, are and essential to prolong a pregnancy and lessen prematurity complications.

Outcome of 116 cases of pleuropulmonary blastoma type I and type Ir (regressed): A report from the International PPB Registry (IPPBR).

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. 9522-9522 ◽  
Author(s):  
Yoav H. Messinger ◽  
Gretchen M Williams ◽  
John R. Priest ◽  
Anne Harris ◽  
Leslie Ann Doros ◽  
...  
Keyword(s):  
Lung Neoplasm ◽  
Pleuropulmonary Blastoma ◽  
Type I ◽  
High Grade ◽  
Type Ii ◽  
Exact Test ◽  
Risk Of Progression ◽  
High Grade Sarcoma

9522 Background: Pleuropulmonary blastoma (PPB) is a rare dysembryonic lung neoplasm of early childhood with progression from a purely cystic Type I (T-I) lesion to cystic solid and solid high grade sarcoma (Type II and Type III). A regressed form of PPB (T-Ir) has been recognized pathologically. The outcome of both T-I and T-Ir has been only partially described. Methods: Retrospective analysis of 345 IPPBR cases showed 116 T-I or T-Ir. In all cases the PPB diagnosis was made on surgically removed cysts. The treating physician decided whether to use chemotherapy after surgery. Results: The pathologic diagnosis of the 91 PPB T-I and 25 T-Ir is now confirmed by central review (LPD and DAH). Patients with T-I were younger than T-Ir (median: 8 months vs. 48 months).Diagnosis after age 6 years included only one T-I compared to 10 T-Ir patients. Therapy is not known for 28 T-I and 2 T-Ir. Surgery was followed by chemotherapy in 31 T-I and 2 T-Ir. Six (5%) recurred with the same type, all were alive at last follow-up: 5 (5.5%) T-I, 1 (4%) T-Ir. Progression to high-grade Type II or III occurred in 9/91 (10%) T-I and 2/25 (8%) T-Ir. The addition of chemotherapy did not significantly reduce progressions (Fisher’s exact test). All of the tumor progressions were seen by 75 months of age; this finding is similar to broader IPPBR data: > 95% of patients are diagnosed with Type II/III by 72 months of age. Of the 9 patients with T-I who progressed, 5 ultimately died, whereas the 2 T-Ir who progressed were alive. At last follow-up 111/116 (95.6%) were alive. Conclusions: A cyst in an older individual most likely will be Type Ir. Type I and Type Ir are clinically similar with a small risk of progression to the advanced Type II/III up to 6 years of age. Outcome for those whose cystic PPBs progressed is poor. The role of chemotherapy remains uncertain for the prevention of progression in the pure cystic PPB Type I or Ir. [Table: see text]

Sign in / Sign up

Export Citation Format

Share Document