Inherited Thrombocytopenia with a Different Type of Gene Mutation: A Brief Literature Review and Two Case Studies
Hereditary thrombocytopenias are rare bleeding disorders, which cause a deficiency of platelets in early infancy. This group of disorders is sometimes associated with abnormal phenotypes, like absence of radius. Diagnosis of this type of thrombocytopenia is usually difficult; other causes of thrombocytopenia, such as immune disorders and infections, must be ruled out. The symptoms of hereditary thrombocytopenia also vary from seldom and mild to severe bleeding and occasionally may first occur in late childhood. In this group of patients, we must differentiate heritable disorders from the acquired types of thrombocytopenia, like immune thrombocytopenic purpura. It is also important to watch for pitfalls to avoid unnecessary and potentially hazardous treatment. Herein, we briefly review the recent literature on hereditary thrombocytopenia and then present the cases of two referred patients. The first case had suffered from persistent thrombocytopenia since early infancy and was diagnosed with congenital amegakaryocytic thrombocytopenia, while the other patient presented with Wiskott - Aldrich syndrome.
A Rapid Screening Test on Dried Blood for the Neonatal Diagnosis of Tyrosinemia Type I
Tyrosinemia is an inherited metabolic disorder characterized by elevated levels of tyrosine and its metabolites in plasma. Without treatment, the disease will progress to hepatic and renal failure, so that without liver transplantation will cause death in less than 10 years of age. So, early diagnosis and treatment can be life saving and crucial. It means that with early treatment starting in the neonatal period, the patient can have normal life with very few restrictions in diets containing tyrosine and phenylalanine.
The Needs of Parents of Preterm Infants in Iran and a Comparison With Those in Other Countries: A Systematic Review and Meta-Analysis
Proper accountability to needs of preterm infants' parents requires recognition of these needs and how they change in different conditions. The aim of this study was to assess the needs of parents of preterm infants in Iran, as compared to those in other regions in the world.
Pseudotumor Cerebri as the First Manifestation of Juvenile Systemic Lupus Erythematosus
Headache is a common neuropsychiatric manifestation of juvenile systemic lupus erythematous (JSLE). Pseudotumor cerebri (PTC) is an uncommon cause of headache, presenting especially in active JSLE. In this paper, we report a case of missed intractable headache that was eventually diagnosed as PTC and presented as the first manifestation of JSLE.
Blood Pressure Profile in the 7th and 11th Year of Life in Children Born Prematurely
Several research trials have analyzed the impact of prematurity on the prevalence of hypertension (HT). However, prospective long-term studies are lacking.
Congenital Ichthyosis: A Case Treated Successfully With Acitretin
Lamellar ichthyosis (collodion baby) is a cornification disorder classified under the category of autosomal recessive congenital ichthyosis and characterized by hyperkeratosis. Early-stage retinoid treatment has been shown to improve survival in these patients. In this article, a lamellar ichthyosis case is presented of an infant who had the symptoms at birth and was treated successfully with acitretin.
Anesthetic Management in a Child With Niemann-Pick Disease
Niemann-Pick is a lipid storage disease that results from a lysosomal enzyme deficiency (sphingomyelinase). It has different presentations, and it may affect various organs such as the central nervous system, kidney, liver, and spleen. Due to the complexity of the disease, careful perianesthetic management is necessary in order to reduce the risks and sequels. As there is little evidence available in the literature regarding the anesthetic implications of such patients, in this case report we describe the anesthetic management of a two-year-old female with Niemann-Pick disease.
Status and Determinants of Motor Impairment in Preschool Children from Migrant Families in China
Although poor health conditions and decreased developmental levels have been investigated in migrant children, no study in China has focused on these children's individual motor development.
Is the Bayley Scales of Infant and Toddler Developmental Screening Test, Valid and Reliable for Persian Speaking Children?
Advances in perinatal and neonatal care have substantially improved the survival of at-risk infants over the past two decades.
Assessment of Sexual Maturation Among Girls With Special Needs in Tehran, Iran
There is limited data on sexual maturation among girls with intellectual, sensory, or physical disabilities.
A 5-Fr Externalized Nephroureteral Catheter as the Sole Protective Device for Pediatric Pyeloplasty: The Experiences of 142 Patients
Pyeloplasty for ureteropelvic junction obstruction correction is a common procedure, but the optimal method for protective diversion after pyeloplasty is still a matter of debate.
Comparison of the Efficacy of Three Natural Surfactants (Curosurf, Survanta, and Alveofact) in the Treatment of Respiratory Distress Syndrome Among Neonates: A Randomized Controlled Trial
Although several different types of natural surfactants are available, including Alveofact, Curosurf, and Survanta, the preferred type and the magnitude of their effects are unknown.
The Predictive Value of Pulse Oximeters for Pulse Improvement after Angiography in Infants and Children
Information from pulse oximeter waves confirms the presence of a pulse and helps obtain waves from tissue when the supplying artery is not readily accessible.
Lived Experience of Caregivers of Family-Centered Care in the Neonatal Intensive Care Unit: "Evocation of Being at Home"
In recent decades, family-centered care (FCC) has come to be known, accepted, and reported as the best care strategy for admitted children and their families. However, in spite of the increasing application of this approach, the experiences of the caregivers have not yet been studied.
Mothers' Attitudes Toward Feeding Twin Babies in the First Six Months of Life: A Sample From Sakarya, Turkey
It is stated in the literature that a mother's breast milk is sufficient for more than one baby.
The Effects of Nutrition, Exercise, and a Praying Program on Reducing Iron Overload in Patients With Beta-Thalassemia Major: A Randomized Clinical Trial
Excessive iron accumulation in the visceral organs creates problems for patients with beta-thalassemia major. Despite chelation therapy, mortality rate from the complications of this disease is still quite high.
Risk Factors for Health Care-Associated Bloodstream Infections in a Neonatal Intensive Care Unit
Healthcare-associated bloodstream infections (HCA-BSI) are a major cause of morbidity and mortality in neonatal intensive care units (NICUs).
The Relationship of Neutrophil-Lymphocyte Ratio and Platelet-Lymphocyte Ratio with Gastrointestinal Bleeding in Henoch-Schonlein Purpura
Henoch-Schonlein Purpura (HSP) is the most widespread systemic vasculitis during childhood. Gastrointestinal tract retention and gastrointestinal bleeding are among its major complications. Neutrophil-Lymphocyte ratio (NLR) and platelet-lymphocyte ratio (PLR) are indicators related to inflammatory diseases. This study evaluated the relationship between NLR or PLR and gastrointestinal bleeding in HSP.
Novel Echocardiographic Indices for Assessing the Left Main Coronary Artery in Children With Kawasaki Disease
Kawasaki disease (KD) is the most common cause of acquired myocardial infarction in children. Coronary artery involvement is the most serious feature of this vasculitis syndrome. Timely diagnosis of coronary artery involvement is of utmost importance since it can prevent long-term morbidity and mortality. The current methods for the diagnosis of coronary artery dilation in KD are inconsistent and are also not capable of detecting all the abnormal coronary arteries or the so-called occult dilations present.
Exposure to Hookah and Cigarette Smoke in Children and Adolescents According to Their Socio-Economic Status: The CASPIAN-IV Study
Exposure to smoking or passive smoking is one of serious health problems especially in the pediatric age group.