Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical and pathological details of a case of reno-facial dysplasia are presented and described. Hyperplasia and lamination of Bowman's membrane, corneal endothelial dystrophy with degenerative changes in the posterior stroma, hypoplasia of the retinal ganglion cell and nerve fibre layers, and severe changes in the retinal and iris blood vessels are believed to be pathognomonic ocular features of this syndrome, in addition to cataract and signs of immaturity. These findings are compared with the few descriptions of the syndrome previously published. The corneal damage is postulated to result indirectly from oligohydramnios which causes chronic compression of the globes and thus endothelial damage due to contact with the spherical cataracts. The pathological changes in the retinal and iris vessels are either genetically determined or the result of chronic hypoxia.
 ...
PMID:[Ocular findings in reno-facial dysplasia (Potter-syndrome) (author's transl)]. 10 56

We report on a woman who was diagnosed with branchio-oto-renal (BOR) syndrome after 2 pregnancies complicated by oligohydramnios due to renal hypoplasia and agenesis. Both babies died neonatally of pulmonary hypoplasia. Histopathology of the temporal bones of the second child showed marked immaturity of the middle ear cleft, ossicles, facial nerve and canal, and cochlear nerve. Maternal renal ultrasound study was normal although intravenous pyelography indicated renal hypoplasia. The frequency of BOR syndrome among cases of recurrent fetal renal hypoplasia/dysplasia or agenesis is unknown, and parental renal ultrasonography may not identify a heritable renal defect. Investigations should include a family history, and examination of relatives to look for preauricular pits, lacrimal duct stenosis, and branchial fistulae and/or cysts. Hearing studies and IVP may be indicated.
 ...
PMID:Branchio-oto-renal syndrome: further delineation of an underdiagnosed syndrome. 141 48

A model of early gestation bladder outlet obstruction and oligohydramnios in the fetal lamb is characterized by small, immature lungs (pulmonary hypoplasia). The current study examines how in utero relief of urinary tract obstruction produced early in gestation modifies pulmonary hypoplasia. Bladder obstruction was created at 60 days gestation in fetal sheep (term = 140 days); 11 fetuses then underwent in utero decompression at 95 to 100 days; six were left obstructed. Five normal fetuses served as controls and two underwent sham obstruction and vesicostomy. All were delivered and sacrificed near term (135 days), the right lung was inflation-fixed and its volume determined. Relative volumes of alveoli, alveolar ducts, and tissue, alveolar surface area, and alveolar numerical density were estimated morphometrically. Kidneys were examined histologically. In all animals persistent bladder obstruction produced oligohydramnios. Bladder obstruction to term produced pulmonary hypoplasia with a mean right lung volume-to-body weight ratio (LV:BW) of 14.3 cc./kg. (normal = 36.4, p less than 0.001). Structural immaturity was evidenced by an airspace fraction of only 57% (normal = 68%, p less than 0.05). Kidneys in these animals were not dysplastic; there was hydronephrosis or evidence of spontaneous urinary decompression. In eight of the 11 animals, decompression improved the LV:BW ratio to 28.4 cc./kg. (vs. obstructed, p less than 0.001; vs normal, p less than 0.05) and normalized maturity. All had increased amniotic fluid at delivery; kidneys in 7/8 animals were normal, and the other had moderate hydronephrosis. One of the 11 animals had normal kidneys, oligohydramnios, immature lungs, but with normal volume. Oligohydramnios was present in the other two of 11 fetuses despite successful decompression and they had markedly dysmorphic kidneys and profoundly hypoplastic and immature lungs (LV:BW 5.1 cc./kg.). Even after 35 days (25% gestation) of obstruction, in utero urinary tract decompression permits better lung growth and maturation than in persistently obstructed animals. The degree of renal damage from obstruction appears to be a critical determinant in the correction of pulmonary hypoplasia.
 ...
PMID:Effect of in utero vesicostomy on pulmonary hypoplasia in the fetal lamb with bladder outlet obstruction and oligohydramnios: a morphometric analysis. 189 46

Bilateral pleuroamniotic shunting was performed at 33 weeks' gestation in a fetus with bilateral hydrothorax, hydrops, and gross polyhydramnios. The procedure was successful, but acute amniotic fluid leakage into the maternal peritoneal cavity occurred soon after. This produced marked maternal discomfort and transient oligohydramnios, with consequent fetal distress. Expectant management was adopted in view of fetal lung immaturity. Resolution of maternal ascites occurred within 24 hours and the fetal heart rate normalized as amniotic fluid reaccumulated. The pregnancy progressed uneventfully thereafter.
 ...
PMID:Uterine-peritoneal amniotic fluid leakage: an unusual complication of intrauterine shunting. 192 26

This paper describes two cases of an unusual renal abnormality discovered in anuric siblings (one male, one female) who were born at 36 and 34 weeks of gestation and died of systemic complications secondary to severe pulmonary hypoplasia shortly after birth. Both gestations were complicated by marked oligohydramnios. Antenatal ultrasound examinations showed slightly enlarged kidneys in the first case and normal kidneys in the second case, with no evidence of hydronephrosis or cystic disease in either. With the exception of enlargement of the first infant's kidneys, autopsies revealed grossly unremarkable kidneys and ureters. Microscopy, however, demonstrated increased glomerulogenesis with normal glomeruli and global immaturity of renal tubules and ducts without concomitant features of dysplasia. Immunoperoxidase staining for epithelial membrane antigen revealed the immaturity or complete absence of proximal convoluted tubules. This precise constellation of findings had not been described previously. One other similar family has been documented in a report implicating genetic factors. In the present cases, the possibility of a cocaine-associated etiology is also addressed.
 ...
PMID:Isolated congenital renal tubular immaturity in siblings. 353 61

Seven VLBW infants with pulmonary hypoplasia (P.H.) were studied retrospectively and their necropsied lungs were analyzed morphologically and histometrically in an attempt to establish the clinical and pathological criteria of P.H. Clinically they had various features as follows; 1) causes with oligohydramnios due to amniotic fluid leakage, 2) bell-shaped chest and/or small lung radiographically, 3) severe respiratory distress immediately after birth, 4) frequent complications with air leaks, lethal within several hours after birth. Pathologically they showed a series of changes; 1) remarkably decreased LW: BW ratios, less than 0.015, 2) decreased number of alveoli per alveolar duct, less than 3 or 4 alveoli/duct compared with 6.5 of normal controls at 28 weeks' gestation, 3) immature duct system and increased interstitium which suggested delay in growth and structural maturation of the lungs. It is suggested that the tendency to develop pulmonary air leaks is not only due to high pressure ventilation but also to histological immaturity of the lungs.
 ...
PMID:Clinicopathological studies on pulmonary hypoplasia in very low birth weight infants. 363 Jun 94

Renal tubular dysgenesis is a rarely recognized condition characterized by oligohydramnios, Potter's sequence and congenital anuria leading to stillbirth or neonatal death from respiratory failure. It is thought to be inherited in an autosomal recessive manner. Definitive diagnosis is based on renal histology, revealing the lack of proximal tubule differentiation. Two additional cases of affected sibs in a family with parental consanguinity are reported. Lectin and immunohistochemical studies confirmed structural and functional immaturity of the proximal tubule. Further findings include bilateral renal vein thrombosis. The clinical and morphological parameters defining this disorder and the possible mechanisms of pathogenesis are discussed.
 ...
PMID:[Renal tubular dysgenesis with fetal renal vein thrombosis]. 776 60

In this study, risk factors of developmental dysplasia of the hip (DDH) were evaluated. History, clinical examination and risk factors for DDH of the babies were recorded. The hips were evaluated with ultrasonography. Infantile hip ultrasonography is one of the best methods for screening of DDH. Ultrasonography is easy, repeatable and provides visualization of the cartilage part of the hip joint. Graf's method of infantile hip ultrasonography was used to evaluate the hip in this study. Both hips of 371 babies and 32 unilateral hips of 32 babies were included in the study. In 403 babies, 14 (3.4%) had DDH. There were 5 type IIB, 7 type IIC, 1 type D, and 1 type IV hips. Physiological immaturity was present in 81 hips (19% of babies). According to risk factor analysis, the only risk factor in unilateral analysis was presence of oligohydramnios (odd ratio-OR: 11.8, confidence interval-CI: 2.7-52.7). In correlation analysis, there was a correlation between female gender and swaddling. There was overall increase in DDH in female babies who were swaddled compared to those who were not. The results of this study showed that the most important risk factor was oligohydramnios for DDH. Swaddling and female gender increased the risk of the disease, but further studies in larger series are necessary for the confirmation of these results.
 ...
PMID:Evaluation of risk factors in developmental dysplasia of the hip: results of infantile hip ultrasonography. 1799 May 83