Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Maternal serum alpha-fetoprotein (MS-AFP) screening has become part of routine obstetric care. Although elevated MS-AFP was originally associated with neural tube defects (NTD), it is also able to detect several fetal anomalies of interest to a pediatric surgeon, ie, ventral abdominal wall defects, intestinal atresias, and sacrococcygeal teratomas. Previously, decreased MS-AFP had only been associated with fetal trisomies, but not surgically correctable lesions. In the present study, we review our recent experience with both elevated and decreased MS-AFP as a marker to detect fetal anomalies of concern to the pediatric surgeon. Forty-one fetal anomalies were associated with 333 pregnancies referred for follow-up after abnormal MS-AFP screening results from November 1985 through November 1986. One hundred ninety-six were elevated and 139 were decreased. In most cases, evaluation included counseling, repeat MS-AFP, level II ultrasound, and amniocentesis. This revealed elevated MS-AFP to be associated with 32 (16.3%) anomalies (2 NTD, 5 anencephalics, 5 ventral abdominal wall defects, 1 stage IV-S neuroblastoma, 1 renal anomaly, 1 ventriculomegaly, 15 fetal demises, and 2 fetal-maternal bleeds). Decrease in MS-AFP was associated with nine (6.4%) anomalies (2 congenital diaphragmatic hernias, 3 Down's syndrome, 1 Turner's syndrome, 2 duodenal atresias, and 1 choroid plexus cyst). In this study, MS-AFP detected several fetal anomalies known to be associated with abnormal MS-AFP and three anomalies not previously described (congenital diaphragmatic hernia, neuroblastoma, and choroid plexus cyst). Elevated as well as decreased MS-AFP are significant and should be pursued by a full prenatal evaluation.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Maternal serum alpha-fetoprotein is a marker for fetal anomalies in pediatric surgery. 245 Sep 87

We report the findings in a child with the Denys-Drash syndrome presenting prenatally with a diaphragmatic hernia, male pseudohermaphroditism, and elevated alpha-fetoprotein levels i amniotic fluid and in maternal serum.
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PMID:Elevated maternal serum and amniotic fluid alpha-fetoprotein levels in the Denys-Drash syndrome. 884 5

A 10-month-old white infant presented with abdominal distention and bilateral scrotal hernia. Imaging studies of the abdomen and thorax showed a huge liver with multiple tumor masses and calcification involving all the segments. There was thrombosis in the inferior vena cava and right atrium. alpha-Fetoprotein was 246,000 IU/mL. HB-94 chemotherapy protocol was started at once due to rapid deterioration of the patient. Surgical biopsy performed after the first IPA (ifosfamide, cisplatin, doxorubicin) course showed hepatoblastoma with macrotrabecular variant. After a second IPA course and 2 courses of carboplatin and etoposide, the boy's clinical condition was excellent with normal alpha-fetoprotein but minimal regression and increased calcification in the tumor mass. Hepatic tumor was unresectable and no surgical intervention was performed. Transplantation could not be performed because of high morbidity and mortality. Despite general agreement that complete surgical resection is the cornerstone of treatment for patients with hepatoblastoma, the patient is in remission with 100% Karnofsky score in the 43 months of diagnosis.
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PMID:Unresectable multifocal hepatoblastoma with cardiac extension: excellent response with HB-94 chemotherapy protocol. 1679 9

Iniencephaly is quite a rare malformation the etiology of which is still not fully understood. In the majority of cases it is a grave and lethal condition. It is often complicated by other abnormalities affecting the central nervous system (spina bifida, anencephaly), but malformations involving other organs and systems may also be observed. Based on 24 cases the authors have surveyed the diagnostics of iniencephaly with special regard to the disorders affecting the central and non-central nervous systems. In addition, they have compared the results of prenatal diagnostics and pathological investigations. In the sample, maternal age ranged between 17 and 42 (median 24) years. Positive obstetrical-gynecological and genetic findings in the patients' history have been reported in 4 and 2 cases, respectively. In these cases, the maternal serum alpha-fetoprotein (AFP) values ranged between 0.7 and 3.9 (median 2.0) MoM, while the amniotic fluid AFP values were between 0.9 and 2.7 (median 1.4) MoM. Spina bifida (50%) and anencephaly (42%) were the most commonly occurring complications affecting the central nervous system. Among the non-central nervous system disorders, malformations of the abdominal (omphalocele) and thoracic walls (diaphragmatic hernia) were found most frequently and the tendency to develop associated polyhydramnios was also very high (75%). Pathological investigations revealed developmental disorders such as cleft lip and palate, ventricular septal defect and facial dysmorphism, which are difficult to detect using ultrasonography.
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PMID:Major diagnostic and pathological features of iniencephaly based on twenty-four cases. 1850 73

Along with ultrasonography, maternal serum screening is an initial stage of a diagnostic process of genetically determined fetal malformation. Based on the performed clinical and statistical study, the author estimated the values of alpha-fetoprotein and beta-subunit of chorionic gonadotropin if the fetus has malformations of the central nervous system, heart, anterior abdominal wall, and urinary tract and Down's syndrome. The informative value of alpha-fetoprotein was confirmed in malformations of the anterior abdominal wall (gastroschisis, omphalocele) and the central nervous system (hydrocephalus, spinal hernia) and that of chorionic gonadotropin in Down's syndrome in a fetus of 15 to 24 weeks gestation.
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PMID:[Maternal serum screening: possibilities of using in the complex diagnosis of fetal malformation]. 1964 18

In the present study, a case of unresectable massive hepatocellular carcinoma (HCC) treated with high intensity focused ultrasound (HIFU) alone is reported. Although the treatment induced chest wall hernia, its efficacy in treating the HCC was demonstrated. The medical records of a patient with an unresectable massive tumor that was effectively treated with serial HIFU ablation were retrospectively studied. Chest wall hernia was detected as a complication of the HIFU treatment, which has not been reported thus far in the literature. The patient has survived for 44 months since the first diagnosis in September 2010. Treatment resulted in partial remission of the tumor, pain relief, decreased levels of alpha-fetoprotein and chest wall hernia, as a complication. Therefore, HIFU may be an effective approach for the treatment of unresectable HCC, although it may occasionally cause complications.
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PMID:Chest wall hernia induced by high intensity focused ultrasound treatment of unresectable massive hepatocellular carcinoma: A case report. 2734 91