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 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).

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 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 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.

Mucopolysaccharidosis type II clinical case

2013 ◽  
Vol 108 (2) ◽  
pp. S56
Author(s):  
Ludmila Kuzenkova ◽  
Tatyana Podkletnova ◽  
Leyla Namazova-Baranova ◽  
Anna Gevorkyan ◽  
Nato Vashakmadze ◽  
...  
Keyword(s):  
Clinical Case ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis 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).

A Clinical Case of Endoscopically Assisted Anterior Screw Fixation for the Type II Odontoid Fracture

Spine ◽  
2003 ◽  
Vol 28 (5) ◽  
pp. E102-E105 ◽  
Author(s):  
Hiroshi Hashizume ◽  
Mamoru Kawakami ◽  
Masaki Kawai ◽  
Tetsuya Tamaki
Keyword(s):  
Clinical Case ◽  
Screw Fixation ◽  
Odontoid Fracture ◽  
Type Ii ◽  
Anterior Screw Fixation

scholarly journals Anti-glaucoma agents-induced pseudodendritic keratitis presumed to be herpetic simplex keratitis: a clinical case series

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Huai-Lung Chang ◽  
Bo-I Kuo ◽  
Jo-Hsuan Wu ◽  
Wei-Lun Huang ◽  
Chien-Chia Su ◽  
...  
Keyword(s):  
Benzalkonium Chloride ◽  
Clinical Case ◽  
Case Series ◽  
Type I ◽  
Type Ii ◽  
Prostaglandin Analogues ◽  
Linear Lesions ◽  
Corneal Toxicity ◽  
Type V ◽  
Punctate Keratitis

AbstractAnti-glaucoma agents-induced corneal toxicity may be misdiagnosed as herpetic simplex keratitis (HSK). In our study, nineteen glaucoma patients were presumed to have HSK before referral. Corneal lesions were classified into (I) linear pseudodendritic lesions formed by elevated opacified cells, (II) linear pseudodendritic lesions formed by grouped superficial punctate keratitis (SPK), (III) satellite full-thickness epithelial defects, (IV) satellite lesions formed by elevated opacified cells, and (V) geographic lesions formed by grouped SPK. We observed thirty-one events, with 15 in the lower and 16 in the central corneas. There were 21 (67.7%) type II, five (16.1%) type V, two (6.5%) of each for types III and IV, and one (3.2%) type I events. Among linear lesions (types I and II), 17 (77.3%) had horizontal and 5 (22.7%) had curvilinear orientations. Exposure duration to the last-added anti-glaucoma agent was three days to 14.5 years. About half of the events (16/31, 51.6%) used prostaglandin analogues, and 30/31 (96.8%) applied benzalkonium chloride (BAK)-containing agents. All lesions resolved within two months after decreasing offending medications or enhancing protection of ocular surface. In conclusion, anti-glaucoma agents-induced pseudodendritic keratitis presents majorly in central-lower cornea as horizontally linear lesions, and BAK-containing agents are observed in the most events.

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