نتایج جستجو برای: corneal hydrops
تعداد نتایج: 30023 فیلتر نتایج به سال:
BACKGROUND Mucopolysaccharidosis type VII (MPS VII) is a rare lysosomal storage disease first described by Sly in 1973. There are fewer than thirty reported cases world wide. This extremely rare disorder can present in-utero as hydrops fetalis and has a high recurrence rate. However, prenatal diagnosis in the absence of a previously affected child, has not been reported to date. CASE This is ...
Endolymphatic pressure measurement is of interest both to researchers in the physiology and pathophysiology of hearing and ENT physicians dealing with Menière's disease or similar conditions. It is generally agreed that endolymphatic hydrops is associated with Menière's disease and is accompanied by increased hydrostatic pressure. Endolymphatic pressure, however, cannot be measured precisely wi...
OBJECTIVE In some cases of non-immune hydrops there is congenital or acquired fetal anemia. The aim of this study was to investigate the potential value of fetal middle cerebral artery peak systolic velocity (MCA-PSV) in the assessment and management of non-immune hydrops due to anemia. METHODS Fetal MCA-PSV and fetal hemoglobin concentration, in blood obtained by cordocentesis, were measured...
Supraventricular tachycardia (SVT) is the most frequent fetal tachyarrhythmia. Diagnosis is established with M-mode ultrasound and/or Doppler investigation. Untreated cases may develop fetal heart failure and hydrops. Even these cases should not be left untreated - maternal administration of anti-arrhythmic drugs should be undertaken. In this manuscript, we describe a successful treatment with ...
Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis. Less common signs of the disease are hepatosplenomegaly, ichthyosis and arthrogryposis. We report a case of Gaucher's disease (type 2) diagnosed in a newborn who pres...
background kawasaki disease (kd) is a vasculitis affecting multi-organ systems including liver and kidneys. kd is diagnosed by some clinical criteria including sterile pyuria, microscopic hematuria, proteinuria due to renal involvement, liver abnormalities manifesting as abnormal liver function tests, gallbladder hydrops, and hypoalbuminemia. objectives the aim of the study was to determine the...
In the current study, we conducted a mutation screening of tumor-associated calcium signal transducer 2 (TACSTD2) gene in six consanguineous Iranian families with gelatinous drop-like corneal dystrophy (GDLD), in order to find the causative mutations. Detailed eye examination was performed by ophthalmologist to confirm GDLD in patients. To detect the possible mutations, direct Sanger sequencing...
It is rare only 1-2% of all congenital heart diseases. The number of cases has fallen dramatically in recent years, possibly secondary to better antenatal scanning. It may be familial (10%) with a predominantly X-linked pattern. [3] It affects both sexes equally, usually presenting during the first 3-6 months of life in 80% of cases. Typical age of diagnosis is 2-12 months. It rarely is reporte...
A = 5'GCGATCTGGGCTCTGTGTTCT-3' complications, such as hydramnios, preeclampsia, antepartum or postpartum hemorrhage, and difficult vaginal delivery? There is also considerable emotional strain for the mothers and their family members. We use polymerase chain reaction (PCR) and prenatal diagnosis from chorionic villi biopsy samples to identify couples at risk of conceiving fetuses afflicted with...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید