Search results for "abnormal"

Moderate ovarian stimulation does not increase the incidence of human embryo chromosomal abnormalities in in vitro fertilization cycles.

2012

A high chromosomal abnormalities rate has been observed in human embryos derived from in vitro fertilization (IVF) treatments. The real incidence in natural cycles has been poorly studied, so whether this frequency may be induced by external factors, such as use of gonadotropins for ovarian stimulation, remains unknown.We conducted a prospective cohort study in a University-affiliated private infertility clinic with a comparison between unstimulated and stimulated ovarian cycles in the same women. Preimplantation genetic screening by fluorescence in situ hybridization was performed in all viable d 3 embryos.The primary objective was to compare the incidence of embryo chromosomal abnormaliti…

Health outcomes of children born after IVF/ICSI: a review of current expert opinion and literature

2014

The Sixth Evian Annual Reproduction (EVAR) Workshop Group Meeting was held to evaluate the impact of IVF/intracytoplasmic sperm injection on the health of assisted-conception children. Epidemiologists, reproductive endocrinologists, embryologists and geneticists presented data from published literature and ongoing research on the incidence of genetic and epigenetic abnormalities and congenital malformations in assisted-conception versus naturally conceived children to reach a consensus on the reasons for potential differences in outcomes between these two groups. IVF-conceived children have lower birthweights and higher peripheral fat, blood pressure and fasting glucose concentrations than …

Toxicity of lindane, atrazine, and deltamethrin to early life stages of zebrafish (Brachydanio rerio).

1990

Fertilized eggs of zebrafish were exposed under flow-through conditions to several concentrations of the following pesticides: lindane 40, 80, 110, 130, and 150 micrograms/liter; atrazine 300, 1300, and 9100 micrograms/liter; deltamethrin 0.5, 0.8, and 1.2 micrograms/liter. Hatching, abnormalities in development (external deformations, edema, etc.), and mortality were recorded over a period of 35 days. At the end of the experiment, the body lengths of the fish were measured. Survival of juvenile fish after 35 days was reduced by increasing concentrations of all xenobiotics tested: lindane enhanced the mortality from 110 micrograms/liter and atrazine from 1300 micrograms/liter, and deltameth…

A rare unbalanced translocation 1;18 in a child with epilepsy, mild dysmorphology and mental retardation

2012

Mitochondria-related encephalomyopathies.

1989

Owing to advances in morphological and biochemical techniques, the mitochondria-related myopathies and encephalomyopathies have emerged as a still rapidly growing group of primary and secondary metabolic disorders, which may extend from infancy to late adulthood. Impairment of the biochemically diversified mitochondria is reflected in an enormous number of deficiencies, often affecting several mitochondrial enzymes in the same patient; morphologically abnormal mitochondria are common and are thus not specific to individual mitochondrial enzyme deficiencies. Skeletal muscle biopsies have provided a wealth of data through histological and histochemical studies and from isolated mitochondria. …

Combined renal and pyelic fusion with crossed ectopia of single ureter. Urology 28:339-41;1986

1986

A case of a forty-five-year-old woman with fused kidneys and intercommunicating pelves drained by a single ureter crossing the midline is reported. A review of the literature is presented.

Acute appendicitis in a patient with situs viscerum inversus totalis: Role of laparoscopic approach. A case report and brief literature review

2020

Highlights • Abdominal pain due to acute appendicitis in one of the most causes of access to Emergency Room requiring surgical consult and treatment. • The occurrence of anatomical anomalies should be considered especially when clinical and imaging features are misleading. In these cases laparoscopic surgery can be a safe tool in order to confirm uncertain diagnosis. • We report a case of acute appendicitis in a 23-year-old Caucasian men with situs viscerum inversus detected on radiological investigation. • Laparoscopic approach was used to confirm the diagnosis and to perform appendectomy. Trocars placement was tailored for this peculiar case. • Situs viscerum inversus and midgut malrotati…

Evidence against linkage of schizophrenia to chromosome 5q11-q13 markers in systematically ascertained families.

1992

Ten pedigrees systematically ascertained in Germany were tested for linkage to chromosome 5q11-q13. In order to replicate the previous report by Sherrington et al (1988), families with a bipolar family member were omitted from the lod score calculations, all diagnoses were based upon Research Diagnostic Criteria, and four different models of the affection status were calculated, including the model for which Sherrington et al calculated the highest lod scores. None of the families investigated showed a positive lod score. Using multipoint linkage analyses, we were able to exclude the region for which a positive linkage has been reported.

Inflammatory Characteristics of Monocytes from Pediatric Patients with Tuberous Sclerosis.

2015

Objective  Therapeutic options for the tuberous sclerosis complex (TSC) syndrome showed varying outcomes. Malfunctional tsc1 / tsc2 genes leave mTOR uninhibited, a positive downstream modulator of the innate proinflammatory immune system, which has not yet been described in pediatric patients with TSC. Methods  Using polymerase chain reaction (PCR) gene expression levels of monocytes after cultivation with lipopolysaccharide (LPS) or with LPS + mTOR inhibitor rapamycin, patients with TSC ( n  = 16) were compared with healthy subjects ( n  = 20). Results  Compared with monocytes from healthy controls, LPS showed a more prominent gene expression pattern in patients with TSC (CCL24, CXCL10, IL…

MRI abnormalities following repeated and incoming seizures.

2010

Abstract Neuroimaging, an important diagnostic tool frequently used in the evaluation of patients with epilepsy, has mainly the aim to identify structural abnormalities needing a treatment and to contribute to the definition of the aetiology. Brain magnetic resonance imaging (MRI) in epilepsy is more sensitive than computerized tomography (CT) scan for detecting abnormalities. Status epilepticus (SE) and repeated incoming seizures may determine extensive and transient or long lasting pronounced MRI changes. We describe a case of a 41-year-old woman with a history of brain neoplasm, whose contrast-enhanced MRI images following repeated and incoming seizures were characterized either by rever…