ABSTRACT
Microdeletion of 22q11 is responsible for DiGeorge syndrome, velocardiofacial syndrome, congenital conotruncal heart defects, and related disorders. We report our experiences on prenatal diagnosis by fluorescence in situ hybridization (FISH) for 22q11 deletion in two fetuses with tetralogy of fallot. Karyotyping and FISH of the parents revealed that one fetus inherited the disease from maternal microdeletion. These findings suggest the importance of performing FISH in pregnancies with prenatally detected tetralogy of Fallot.
Subject(s)
Adult , Female , Humans , Pregnancy , Chromosome Deletion , Chromosomes, Human, Pair 22 , Echocardiography , Fetal Diseases/diagnosis , In Situ Hybridization, Fluorescence/methods , Prenatal Diagnosis/methods , Tetralogy of Fallot/diagnosisABSTRACT
Congenital myotonic dystrophy is a severe and early-onset form of myotonic dystrophy (DM) with a prevalence of 2.5-5.5/100,000 live births. Expansion of the trinucleotide CTG repeat in the 3 untranslated region of the DM gene, which is located at a chromosome 19q13.3 is a common mutation in DM. Clinical features are generalized hypotonia (floppy infant), respiratory and feeding difficulty, and the neonatal mortality rate is approximately 40%. We experienced a case of recurrent congenital myotonic dystrophy, and report with a review of related literatures. Women with recurrent neonatal hypotonia or ultrasonographic evidence of hypotonia, including positional abnormalities of the extremities and idiopathic polyhydramnios, should be offered testing for the genetic studies for myotonic mutation, such as PCR (Polymerase chain reaction) analysis and Southern blot analysis.
Subject(s)
Female , Humans , Infant , Blotting, Southern , Diagnosis , Extremities , Infant Mortality , Live Birth , Muscle Hypotonia , Myotonic Dystrophy , Polyhydramnios , Polymerase Chain Reaction , Prenatal Diagnosis , Prevalence , Untranslated RegionsABSTRACT
Congenital myotonic dystrophy is a severe and early-onset form of myotonic dystrophy (DM) with a prevalence of 2.5-5.5/100,000 live births. Expansion of the trinucleotide CTG repeat in the 3 untranslated region of the DM gene, which is located at a chromosome 19q13.3 is a common mutation in DM. Clinical features are generalized hypotonia (floppy infant), respiratory and feeding difficulty, and the neonatal mortality rate is approximately 40%. We experienced a case of recurrent congenital myotonic dystrophy, and report with a review of related literatures. Women with recurrent neonatal hypotonia or ultrasonographic evidence of hypotonia, including positional abnormalities of the extremities and idiopathic polyhydramnios, should be offered testing for the genetic studies for myotonic mutation, such as PCR (Polymerase chain reaction) analysis and Southern blot analysis.
Subject(s)
Female , Humans , Infant , Blotting, Southern , Diagnosis , Extremities , Infant Mortality , Live Birth , Muscle Hypotonia , Myotonic Dystrophy , Polyhydramnios , Polymerase Chain Reaction , Prenatal Diagnosis , Prevalence , Untranslated RegionsABSTRACT
A case of intermediate differentiated Sertoli-Leydig cell tumor with elevated Alpha-fetoprotein (AFP) levels occurred in a 15-year-old girl. No germ cell component and no heterologous elements were identified. Secretion of AFP by Sertoli-Leydig cell tumor has rarely been mentioned previously, and its mechanism is difficult to explain. We present this case with review of related literatures.
Subject(s)
Adolescent , Female , Humans , alpha-Fetoproteins , Germ Cells , Ovary , Sertoli-Leydig Cell TumorABSTRACT
OBJECTIVE: To evaluate the recent trend of indication for pregnancy termination. METHOD: From 1993 to 2000, 1,087 cases of termination out of 61,842 cases of deliveries in Samsung cheil hospital were analyzed. We reviewed retrospectively the data-base and charts of delivery, and analyzed the indication for pregnancy termination. RESULTS: Among 61,842 cases of deliveries, indications of pregnancy termination were fetal structure anomalies in 399 cases (0.7%), IUFD in 261 cases (0.4%), PROM in 215 cases (0.4%), chromosomal anomalies in 138 cases (0.2%), anhydroamnios in 32 cases (0.05%), rubella infection of mother or fetus in 24 cases (0.04%), and others in 20 cases (0.03%). Autopsy was performed in 242 cases of fetal anomalies (60.7%), 116 cases of UIFD (44%), and 59 cases of fetal chromosomal abnormalities (43%). The cases of chromosomal anomaly as indication of termination increased and rubella infection of mother or fetus decreased recently, and it is statistically significant r=0.95(P=0.00) and r=-0.73(P=0.04). The fetal weight terminated due to PROM is significantly decreased (Y=517-26 x year P=0.002). CONCLUSION: The indications of termination for fetal chromosomal abnormalities were increased, but for rubella infections were decreased. In cases of PROM, the terminated fetal weight were significantly decreased. However, no change was observed in cases of fetal anomaly, IUFD,and PROM.
Subject(s)
Humans , Pregnancy , Autopsy , Chromosome Aberrations , Fetal Weight , Fetus , Mothers , Retrospective Studies , RubellaABSTRACT
Author take off the pelvic bone from the cadaver and made the accruate reconstructed the pelvic bone as well as normal bone. Then author setted the pelvic bone into the specialized acrylic globe as the normal person erect position. For the acetabular posterior wall, projected the radiologic beam from the 0°to 45°cephalad direction and then pelvic bone rotated internally 0°~45°, each section is 5°. For acetabular anterior wall, projected the radiologic beam from 0° to 45° caudal direction and pelvic bone rotated externally 0°~45°, each section is 5° too. From the pelvic bone experiments, author get on the good radiologic angle for acetabular anterior and posterior wall. Ane then make the radiologic projection for normal person as the pelvic experiment. In pelvic bone model experiment, For acetabular anterior wall and anterior colum, external rotation 20°~30° caudal tilting 30°~45° angle projection has good visualization. For acetabular posterior wall and posterior column (including anterior column partially), internal rotation 15°~20° cephalad tilting 15°~30°angle projection has the good visualization. In normal person experiment, For acetabular anterior wall and anterior column, external rotation 20°caudal tilting 30°angle projection shows the good visualization. For acetabular posterior wall and column (including anterior column partially) internal rotation 20°cephalad tilting 30°angle projection shows good visualization. From the pelvic bone model and normal person experiments, the following conclusion are obtained. 1. For posterior wall and posterior column(including anterior column partially), internal rotation 20°, cephalad tilting 30°view is good. 2. For anterior wall and anterior column, external rotation 20°, caudal tilting 30°view is good.
Subject(s)
Humans , Acetabulum , Cadaver , Pelvic BonesABSTRACT
We analyzed 34 cases of large bone defect caused by trauma, infection and tumor resection from July, 1979 to June, 1985. The bony defect were restored by vascularized fibular graft or vascularized fibular transposition. 22 cases were the traumatic segmental loss and 7 cases were infected ones and 5 cases were the loss following tumor resection. Vascularized fibular graft was performed in 19 cases and vascularized fibular transposition was performed in 15 cases. The 33 cases(97%) of 34 cases had obtained sound bony union and average union time had been 18.6 weeks. Even local infection in the bone, vascularized fibular graft or transposition can be performed. Grafted or transposed fibula had been hypertrophied about 1.2 times in anteroposterior and lateral film which had been measured in the center of the fibula. The most common complication was the clawing of first or second toe. If the ipsilateral fibula is intact, the vascularized fibular transposition is better and if not, vascularized fibular graft is preferred. Operation using the vascularized fibula is a excellent method for the restoration of large bone defect in long bone.
Subject(s)
Animals , Fibula , Hoof and Claw , Methods , Toes , TransplantsABSTRACT
The skin defect with sensory impairment of volar aspect of fingers should be reconstructed for the better function of hand. The Neurovascular island graft has been used to provide sensation to volar surface the thumb and to replace pulp tissues avulsed from thumb or index finger. Authors performed neurovascular island graft for defective sensibility of finger tip loss in 14 cases since Jun. 1979 to Mar. 1985. The donor flaps were obtained from the ring finger in 9 cases and middle finger in 5 cases. Among 14 cases, the donor flaps were taken from the ulnar side of 3rd and 4th finger in 11 cases. We followed up the the patients from 7 months to 4 years and 6months and in last follow-up, recovery of protective sensation such as sharp/blunt discrimination, temperature discrimination, and touch/stroke discrimination, was good but two point discrimination and reorientation of sensa-tion were poor. Cold intolerance was developed in 11 cases, and longitudial linear scar band of donor digit was demonstrated in 12 cases.