Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The results of cluster analysis of maternal mortality after cesarean section in the USSR are reported. The statistical data were collected for the 1980-1986 period for USSR in total and for various regions. Region A included Baltic republics and Byelorussia; region B included Russia, Ukraine, Armenia and Moldavia; region C included Uzbekistan, Kazakhstan, Kirgizia, Azerbaijan, and Georgia; and region D included Tadzhikistan and Turkmenia. In the USSR, cesarean section was performed in 1.6-3.1% of all pregnancies (2.4-4.6%, 1.8-3.7%, 0.9-1.9%, and 0.8- 1.5% in regions A, B, C and D, respectively). Mortality rate after cesarean section was 0.4-0.2% for the USSR (0.09-0.08%, 0.35-0.10%, 0.80-0.40%, and 1.60-0.50% for regions A, B, C and D, respectively). Indications for cesarean section included abruptio placentae (34.2%), late toxemia (22.9%), cicatrix in the uterus (8.7%), narrow pelvis (8.7%), anomaly of labor activity (8%), extragenital pathology (5.8%), placenta previa (5.1%), fetal distress (3.6%), and others (3%). Emergency cesarean section was performed in 90% of the patients (only 18% underwent emergency cesarean section within 1 hour after the diagnosis). The most frequent cause of death after cesarean section was hemorrhage (36.2%). The 2nd leading cause of death was late toxemia (17.5/%). Other causes of death included cerebral hemorrhage (8.1%), brain edema (9.8%), complications of anesthesia (9.5%), extragenital diseases (7.7%), and hypotonia of the uterus (5.6%).
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PMID:[Mortality after cesarean section]. 273 99

The objectives of this study were to determine if infants delivered with severe acidemia (cord umbilical arterial pH < 7.0) had short-term neurologic effects and whether infants with persistent bradycardia who received cardiopulmonary resuscitation (CPR) in the delivery room would be at greatest risk for subsequently developing neonatal seizures. Forty-seven infants (39 term, 8 preterm) delivered with severe fetal acidemia were studied. The mean (+/- S.D.) for pH, PaCO2, and base deficit for the 47 infants was 6.86 +/- 0.11, 97 +/- 22 mm Hg, and -17 +/- 4, respectively. Labor complications were common and included placental abruption in 8, ruptured uterus in 4, cord prolapse in 3, fetal heart rate decelerations in 12, and other (n = 14). Most infants were delivered via emergency cesarean section (n = 29). Delivery room interventions included oxygen and bag/mask ventilation only (n = 20) and intubation and ventilation (n = 22); 7 of 22 infants received CPR and epinephrine for persistent bradycardia (heart rate < 80 beats/min despite ventilatory support). Five infants required no intervention. Eight infants (17%) had seizures; 6 of these infants received CPR in the delivery room. Short-term outcomes were abnormal in 7 of 8 infants (i.e., death in 5, abnormal neurologic examination at discharge in 2). In 39 infants without seizures, 32 had transient neurologic abnormalities (i.e., irritability, hyperreflexia, proximal hypotonia) which resolved by discharge, and 2 had abnormal and 5 normal examinations.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Severe fetal acidemia: neonatal neurologic features and short-term outcome. 821 39

Preimplantation genetic diagnosis was performed in 61 day 3 embryos obtained by in-vitro fertilization from seven patient carriers of haemophilia, Marfan's syndrome, Bloch-Sulzemberg syndrome (incontinentia pigmentosa) or X chromosome-linked immune deficiency, retinitis pigmentosa, and FG syndrome, which is characterized by mental retardation and hypotonia. After multiplex polymerase chain reaction, 16 embryos were diagnosed as being unaffected, and these were transferred to the uterus on the following day (day 4). Of these embryos, six (37.5%) implanted, resulting in the delivery of a singleton and a twin pregnancy, a late second trimester miscarriage (twins at week 20) and a first trimester miscarriage at week 8. All the diagnoses were confirmed by amniocentesis. We report for the first time a late day 4 transfer of biopsied human embryos undergoing preimplantation genetic diagnosis. This transfer schedule allows an extra day to perform genetic analyses on single blastomeres and to monitor any adverse effect of the biopsy procedure.
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PMID:Successful outcome with day 4 embryo transfer after preimplantation diagnosis for genetically transmitted diseases. 968 8

Translocations involving the short arms of the X and Y chromosomes are rare and can result in a functional disomy of the short arm of the X chromosome, including the dosage-sensitive sex reversal (DSS) locus. A result of such imbalance may be sex reversal with multiple congenital anomalies. We present the clinical and cytogenetic evaluation of a newborn infant with DSS and additional clinical findings of minor facial anomalies, left abdominal mass, 5th finger clinodactyly, and mild hypotonia. The external genitalia appeared to be normal female. The infant had bilateral corneal opacities and findings suggestive of anterior segment dysgenesis. Ultrasonography showed a small uterus with undetectable ovaries, and a left multicystic dysplastic kidney. High-resolution chromosome analysis identified the presence of a derivative Y chromosome, 47,XY, +der(Y)t(X;Y)(p21.1;p11.2), which was confirmed by fluorescence in situ hybridization studies. Array CGH showed a 35.1 Mb copy number gain of chromosome region Xp22.33-p21.1 and a 52.2 Mb copy number gain of Yp11.2-qter, in addition to the intact X and Y chromosomes. Previously reported patients with XY sex reversal have not had DSS with corneal opacities, dysgenesis of the anterior segment of the eye, and unilateral multicystic dysplastic kidney. These findings represent a new form of XY sex reversal due to an Xp duplication.
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PMID:47, XY, +der(Y),t(X;Y)(p21.1;p11.2): a unique case of XY sex reversal. 2127 59

Array comparative genomic hybridization (aCGH) is now commonly used to identify copy number changes in individuals with developmental delay, intellectual disabilities, autism spectrum disorders, and/or multiple congenital anomalies. We report on an infant with multiple congenital anomalies and a novel 2.6 Mb interstitial deletion within 9q21.32q21.33 detected by aCGH. Her clinical presentation included dysmorphic craniofacial features, cleft palate, atrial septal defect, bicornuate uterus, bilateral hip dislocation, hypotonia, and recurrent pneumonia. Parental aCGH studies were negative for copy loss in this region. To our knowledge, no similar deletions have been reported in available databases or published literature. This deletion encompasses 12 genes, and prediction algorithms as well as experimental data suggest that a subset is likely to be haploinsufficient. Included are a neurotrophin receptor (NKG2D), a gene implicated in cilia function (KIF27), an adaptor protein important for ubiquitin-dependent protein quality control (UBQLN1), a gene important for transcription and signaling (HNRNPK), and a gene involved in maintaining genomic stability (RMI1). Identifying additional patients with similar copy losses and further study of these genes will contribute to a better understanding of the pathophysiology of multiple congenital anomalies.
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PMID:Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies. 2534 48

Uterine inversion is a rare but potentially serious complication of labour characterized by "glove-finger" introflexion of the uterine body protruding into the vagina or out of the vulva. This disease commonly occurs just after delivery and it is characterized by severe pain associated with hemorrhagic shock. The diagnosis is essentially based on clinical examination and must be immediate in order to allow quick reinversion before the formation of a constriction ring. Mortality rate is low if patients are early diagnosed and treated. Uterine inversion does not seem to affect the obstetrical prognosis. Contributing factors mainly include uterine hypotonia associated with fundal placenta causing depression of the uterine fundus in case of inappropriate maneuvers (pulling on the umbilical cord, uterine expression). Reinversion should be quick associated with resuscitation measures (shock resuscitation). It is based on several manual methods consisting of returning the uterus after possible muscle relaxants treatment (nitrated derivatives, betamimetics and general anesthesia). Failure results in surgical treatment using high or low approach. We report the case of total uterine reinversion during delivery by cesarean section.
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PMID:[Uterine inversion: about a case]. 2987 80

Prolyl endopeptidase-like (PREPL) deficiency (MIM 616224) is a very rare congenital disorder characterized by neonatal hypotonia and feeding difficulties, ptosis, neuromuscular symptoms, cognitive impairments, growth hormone deficiency, short stature, and hypergonadotropic hypogonadism. This syndrome is an autosomal recessive disease resulting from mutations in the PREPL gene. Previous reports have associated PREPL deficiency with only one nucleotide substitution, the deletion of four nucleotides, and eight small microdeletions in the PREPL gene In this study, we used whole exome sequencing (WES) to identify a novel homozygous splicing mutation (c.616 + 1G > T) in a 14-year-old Chinese girl with PREPL deficiency. Sequencing of the RT-PCR products from the patient's blood sample revealed that the c.616 + 1G > T variant disrupted normal splicing in intron 4 leading to an aberrant inclusion of 43 nucleotides in intron, a frameshift, and premature termination codon. Our patient exhibited several of the common phenotypes, including severe neonatal hypotonia, growth impairment and cognitive problems. However, we also observed several unusual phenotypic characteristics: absence of the ovaries, hypoplasia of the uterus, microcephaly and a short neck in patient is alsoobserved. These results provide further evidence for the involvement of PREPL development of the ovaries and uterus. Our findings may provide further insight into the relationship between the genotype and phenotype in collagen-associated diseases and improve the clinical diagnosis of Prolyl endopeptidase-like deficiency.
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PMID:PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus. 3221 3