Search results for "Abnormal"

Use of asthma medication during pregnancy and risk of specific congenital anomalies: A European case-malformed control study.

2015

Background: Pregnant women with asthma need to take medication during pregnancy.Objective: We sought to identify whether there is an increased risk of specific congenital anomalies after exposure to antiasthma medication in the first trimester of pregnancy.Methods: We performed a population-based case-malformed control study testing signals identified in a literature review. Odds ratios (ORs) of exposure to the main groups of asthma medication were calculated for each of the 10 signal anomalies compared with registrations with nonchromosomal, nonsignal anomalies as control registrations. In addition, exploratory analyses were done for each nonsignal anomaly. The data set included 76,249 reg…

Revised recommendations of the Italian Society of Pediatrics about the general management of Kawasaki disease

2021

AbstractAim of these revised recommendations for the general management of Kawasaki disease is to encourage its prompter recognition and warrant the most appropriate therapy, based on ascertained scientific data, raising awareness of the complications related to misdiagnosis or delayed treatment. A set of 20 synthetic operative statements is herein provided, including the definition of Kawasaki disease, its protean presentations, clinical course and seminal treatment modalities of all disease phases. The application of these recommendations should improve prognosis of Kawasaki disease and prevent the progression to permanent vascular abnormalities, thereby diminishing morbidity and mortalit…

Patient with Kabuki syndrome and acute leukemia

2003

Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome which often involves recurrent infections. There is cumulative evidence of an immunodeficiency in Kabuki patients. We report a 2-year-old girl with typical Kabuki syndrome, who developed acute lymphocytic leukemia. The patient showed low levels of immunoglobulins G and A and a history of recurrent infections, that might indicate an immunodeficiency leading to an increased susceptibility to cancer. The girl was treated according to BFM protocols adapted to the patient's impaired cardiac situation and severe underweight. She achieved continual complete remission. Classical and molecular cytogenetic analyzes did not d…

Orofacial features and medical profile of eight individuals with Kabuki syndrome

2019

Background To evaluate oral, craniofacial and systemic characteristics of eight patients with Kabuki syndrome (KS), aged between 3 and 16 years old. Material and Methods In this retrospective study, medical records of all patients were reviewed for information on family history, growth and development, medications in use, general systemic complications and oral and craniofacial characteristics. Results The medical alterations found included recurrent infections such as pneumonia and otitis media (n = 6), cardiovascular malformations (n = 4), kidney abnormalities (n = 2), epilepsy (n = 2) and visual deficiency (n = 2). The individuals exhibited dental caries (n = 5), agenesis (n = 5), delaye…

58. White matter abnormalities in attention-deficit/hyperactivity disorder: A diffusion tensor imaging study in adult patients

2009

[Psychomotor disadaptation syndrome].

2014

We describe the psychomotor disadaptation syndrome and report the last findings on its physiopathology and therapeutic. This syndrome was first described by Pr Gaudet's team in 1986 and named "psychomotor regression syndrome". This name has been recently changed into "psychomotor disadaptation syndrome".The psychomotor disadaptation syndrome is a decompensation of postural function, gait and psychomotor automatisms due to the alteration of the posture and motor programming. That alteration is linked to subcortical-frontal lesions. Clinically, the psychomotor disadaptation syndrome is characterized by postural impairments (retro-propulsion or backward disequilibrium), non-specific gait disor…

Acetaminophen Use During Pregnancy: Effects on Risk for Congenital Abnormalities

2008

Udgivelsesdato: 2008-Feb OBJECTIVE: We evaluated if acetaminophen, one of the most frequently used drugs among pregnant women is associated with an increased prevalence of congenital abnormalities. STUDY DESIGN: We selected 88,142 pregnant women and their liveborn singletons from the Danish National Birth Cohort who had information on acetaminophen use during the first trimester of pregnancy. We used the National Hospital Registry to identify 3784 (4.3%) children from the cohort diagnosed with 5847 congenital abnormalities. RESULTS: Children exposed to acetaminophen during the first trimester of pregnancy (n = 26,424) did not have an increased prevalence of congenital abnormalities (hazard …

A Decision-Tree Approach to Assist in Forecasting the Outcomes of the Neonatal Brain Injury

2021

Neonatal brain injury or neonatal encephalopathy (NE) is a significant morbidity and mortality factor in preterm and full-term newborns. NE has an incidence in the range of 2.5 to 3.5 per 1000 live births carrying a considerable burden for neurological outcomes such as epilepsy, cerebral palsy, cognitive impairments, and hydrocephaly. Many scoring systems based on different risk factor combinations in regression models have been proposed to predict abnormal outcomes. Birthweight, gestational age, Apgar scores, pH, ultrasound and MRI biomarkers, seizures onset, EEG pattern, and seizure duration were the most referred predictors in the literature. Our study proposes a decision-tree approach b…

Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review.

2021

KBG syndrome (OMIM #148050) is a rare autosomal dominant disorder, typically characterized by macrodontia of the upper central incisors, distinct craniofacial findings, short stature, and skeletal anomalies associated with neurological involvement including intellectual disability, behaviour difficulties, and epilepsy. KBG syndrome is associated with mutations in ANKRD11 gene that plays a chromatin regulator role of histone acetylation and gene expression during neurogenesis in the embryonic brain.

Bilateral agenesis/aplasia of the lungs: report of a second case in the offspring of one woman.

1995

Congenital absence of both lungs is an extremely rare malformation in humans and is thought to occur sporadically. We report the second case of congenital absence of both lungs in the offspring of one woman. In neither case, one female baby (born at term) and one aborted female fetus (21 weeks of gestation), were anomalies or malformations of other organ systems observed. The karyotype of the aborted fetus was 46,XX. To our knowledge, this is the first report describing bilateral pulmonary agenesis in two offspring of one mother. The repetition of virtually the same isolated abnormality with no other malformations supports the hypothesis that it could be caused by a genetic disorder. Other …