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Valvular Heart Disease and Heart Failure
Published in Andreas P. Kalogeropoulos, Hal A. Skopicki, Javed Butler, Heart Failure, 2023
Kali Polytarchou, Constantina Aggeli
Trivial pulmonary regurgitation (PR) is common in healthy individuals. “Congenital” PR is encountered after tetralogy of Fallot repair or balloon valvulotomy for pulmonary stenosis (PS).48 Pulmonary hypertension, infective endocarditis, carcinoid, and iatrogenic causes can lead to PR, which can be asymptomatic for years.49 Chronic RV volume overload results in signs and symptoms of right HF (peripheral edema, ascites, fatigue), and palpitations. The diastolic murmur increases with inspiration and Graham-Steel diastolic decrescendo murmur is heard when SPAP is >70 mmHg. There is usually wide QRS complex on ECG, which may also reveal atrial tachycardia or non-sustained ventricular tachycardia. There is RV and RA dilation on echocardiography, with PR jet and concomitant TR jet. Continuous wave Doppler is dense with early equalization of RA and RV end-diastolic pressure and short pressure half- time (Figure 14.13).
Care of the Premature and Ill Neonate
Published in Praveen S. Goday, Cassandra L. S. Walia, Pediatric Nutrition for Dietitians, 2022
Ting Ting Fu, Kera McNelis, Carrie Smith, Jae H. Kim
The surgical neonate may be born preterm or term. The need for surgery may be due to congenital or acquired conditions. Common neonatal disorders in the preterm and term infant requiring surgical intervention include congenital disorders such as intestinal atresias or abdominal wall defects such as gastroschisis and omphalocele. Acquired conditions such as spontaneous intestinal perforation (SIP) and necrotizing enterocolitis (NEC) are also more common in preterm infants. NEC is characterized by variable damage to the intestinal tract ranging from mild injury to injury significant enough to warrant surgery to remove parts of the diseased bowel. Surgical exploration of the abdomen results in bowel rest and recovery that requires parenteral nutrition (PN).
Early Organogenesis and First Trimester
Published in Mary C. Peavey, Sarah K. Dotters-Katz, Ultrasound of Mouse Fetal Development and Human Correlates, 2021
Mary C. Peavey, Sarah K. Dotters-Katz
In mammalian development, each of the three germ cell layers (ectoderm, mesoderm and endoderm) undergo differentiation via intricate cellular signaling. This signaling results in further cell differentiation and organization, leading to the growth of organs. In humans, the internal organs begin to develop 3–8 weeks after fertilization. During this time, the neural system, heart, upper and lower limbs, ear, eye, palate and external genitalia are forming; any adverse exposure during this time can result in major congenital abnormalities. In mice, a majority of internal organs begin to develop between 9.5 and 11.5 dpc. Both human and mouse embryological development have been extensively characterized (1), allowing the mouse to serve as an experimental model for human disease and abnormal organogenesis.
Cortical Morphometry and Its Relationship with Cognitive Functions in Children after non-CNS Cancer
Published in Developmental Neurorehabilitation, 2021
Janine S. Spitzhüttl, Martin Kronbichler, Lisa Kronbichler, Valentin Benzing, Valerie Siegwart, Mirko Schmidt, Manuela Pastore-Wapp, Claus Kiefer, Nedelina Slavova, Michael Grotzer, Maja Steinlin, Claudia M. Roebers, Kurt Leibundgut, Regula Everts
Controls were recruited from the siblings of the patients, through advertising on the hospital intranet, and through self-created flyers distributed in the hospital and its neighborhood. Inclusion criteria for controls were (a) age between 7 and 16 years, (b) no chronic illness potentially influencing development (e.g., birth deformity, congenital heart defect, cerebral palsy, or epilepsy), (c) no medical problems potentially influencing development (e.g., meningitis, encephalopathy, or traumatic brain injury), (d) no pervasive developmental disorders (e.g., autism), and (e) normal or corrected-to-normal vision and hearing. Exclusion criteria were: metal parts in the body and pregnancy. Inclusion criteria differed between patient and controls in respect to the exclusion of medical problems potentially influencing the development and pervasive developmental disorders.
Congenital cytomegalovirus infection: epidemiology, prediction, diagnosis, and emerging treatment options for symptomatic infants
Published in Expert Opinion on Orphan Drugs, 2020
Nobuhiko Nagano, Ichiro Morioka
In some case of symptomatic infants, anti-viral treatments with IV GCV or oral VGCV, which are started from the neonatal period, have improved hearing and neurological prognosis. Therefore, if symptomatic infants with congenital infection are diagnosed, they should be consulted with doctors who specialize in neonatal or pediatric infection and should be considered to undergo treatments. However, GCV and VGCV are still off-label drugs for congenital CMV infection worldwide, because there are concerns about its safety during the treatment (myelosuppression, especially neutropenia that occurs at high rates). Long-term influences with fertility and carcinogenicity, which have been demonstrated in animal toxic experiments, have not yet been addressed in humans. The selection of infants to be treated must be done carefully. There is no established evidence for starting treatment after the neonatal period. Moreover, it should be remembered that there are cases where the effectiveness is remarkable, but treatment does not show an effect or hearing is worse even after receiving the treatment. At present, this treatment should be performed with a well-informed consent from the parents.
Current pharmacotherapeutic options for myasthenia gravis
Published in Expert Opinion on Pharmacotherapy, 2019
Carolina Barnett, Raha Tabasinejad, Vera Bril
Several other symptomatic treatments in use primarily for congenital MG are ephedrine, salbutamol, and 3.4-Diaminopyridine. Congenital MG may respond to cholinergic upregulation, beta-adrenergic agonists, or open-channel blockers (fluoxetine, quinidine) for slow-channel syndrome [4]. In order to select the appropriate treatment, accurate diagnosis of the specific congenital syndrome must be made [5]. It is advisable to be careful about the choice of treatment as some agents improve certain congenital syndromes and worsen others [4]. Pyridostigmine is effective for many congenital MG syndromes such as fast channel syndrome [6], Rapsyn deficiency [7], and SCN4A sodium channel myasthenia [6], but pyridostigmine can worsen DOK-7, acetylcholinesterase deficiency and slow-channel congenital MG [5]. 3,4-Diaminopyridine can confer added benefit to pyridostigmine in many forms of congenital MG.