RESUMEN
Novel COVID-19 infections caused major morbidity and mortality globally in the adult age group. Likewise, SARS-COV-2 infections in children are highly risky in the selected patient population. We performed a focused literature search of published reports from December 1, 2019, till August 20, 2020. The aim was to explore the etiology, clinical presentations, and outcome of pediatric COVID-19 patients. Viral respiratory infections are associated with high societal costs for children. In addition, children with asymptomatic SARS-COV-2 infections can be a source of COVID-19 spread to parents and caregivers. The major reported risk factors for pediatric COVID-19 cases were close contact with a SARS-COV-2 positive family member, a history of travel, and/or living in endemic areas. Children with COVID-19 who required ICU care had various comorbidities, such as malignancy. As the pandemic evolved, multiple cases of multisystem inflammatory syndrome in children and adolescents temporarily related to covid-19 (MIS-C) were reported. A unique population is neonates born to COVID-19 affected mothers, as there is an urgent need to optimize their management and outcome during this rapidly evolving pandemic. The early identification of SARS-COV-2 infection in infants and children has important direct management effects in these children and public health implications because of the effects on disease transmission control measures.
Asunto(s)
COVID-19/epidemiología , SARS-CoV-2 , Síndrome de Respuesta Inflamatoria Sistémica , COVID-19/etiología , Niño , Servicios de Salud del Niño , Femenino , Humanos , Masculino , Prevalencia , Síndrome de Respuesta Inflamatoria Sistémica/epidemiología , Síndrome de Respuesta Inflamatoria Sistémica/etiologíaRESUMEN
OBJECTIVES: To determine the perinatal and neonatal morbidity related to diabetes associated with pregnancy. METHODS: This is a prospective cohort study conducted at a tertiary university hospital in Central Saudi Arabia. All neonates born to mothers with pregnancy associated diabetes between July 2014 and June 2015 were recruited for the purpose of this study. Infants born at 23 weeks or less, infants who died within 3 hours of delivery, twins, and unbooked pregnant ladies were excluded from the study. RESULTS: A total of 279 ladies and 289 infants were enrolled in the study. Gestational diabetes was observed in 84.5% of study subjects, type 1 diabetes in 2.8%, and type 2 diabetes in 12.5% of the females that were examined. A variety of neonatal complications were observed in infants of diabetic mothers including macrosomia, hypoglycemia, hypocalcemia, hyperbilirubinemia, respiratory distress syndrome, and congenital malformations. Macrosomia, hypoglycemia, respiratory distress syndrome, and NICU admission correlate with poor control of diabetes during pregnancy (HbA1c greater than 7%). Moreover, the presence of congenital malformations correlates with poor diabetes control in the first and second trimester, but not in the third trimester. CONCLUSION: Infants of diabetic mothers in this cohort developed a variety of neonatal events that largely correlates with poor metabolic control during pregnancy.
Asunto(s)
Diabetes Gestacional/sangre , Hemoglobina Glucada/metabolismo , Hipoglucemia/epidemiología , Embarazo en Diabéticas/sangre , Embarazo Prolongado/epidemiología , Síndrome de Dificultad Respiratoria del Recién Nacido/epidemiología , Adulto , Cesárea , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 2/sangre , Femenino , Macrosomía Fetal/epidemiología , Humanos , Recién Nacido , Unidades de Cuidado Intensivo Neonatal , Admisión del Paciente , Embarazo , Arabia Saudita/epidemiologíaRESUMEN
BACKGROUND: The term disorders of sex development (DSD) includes congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. The spectrum of the 46XY (DSD) is so broad. In this study, we reviewed the clinical spectrum of a cohort of patients with 46XY DSD in a tertiary institute in the Middle East over two decades. OBJECTIVE: To define the clinical spectrum of 46XY DSD in a major teaching hospital, Riyadh, Saudi Arabia. MATERIALS AND METHODS: This is a retrospective, case series hospital-based study. The case notes, laboratory investigations, and imaging studies were reviewed for patients with 46XY DSD over a 20 years period (1989-2010) at King Khalid University Hospital, Riyadh, Saudi Arabia. Molecular genetics were not available in all patients. RESULTS: During the period under review; a total of 56 patients were seen with 46XY DSD due to variable etiologies. Androgen insensitivity syndromes (AIS) and 5-α-reductase deficiency were among the commonest (44.6%), with multiple siblings involvement within the family. Of these, 16 patients were showing variable degrees of insensitivity ranging between complete (n=5, 31.2%) and partial (n=11, 68.8%) insensitivity, whereas in nine patients the diagnosis of 5-α-reductase deficiency was entertained based on hormonal studies. Of interest to see was a high number of patients (n=14, 25%) either with a localized congenital anomalies such as the cloacal anomalies or generalized congenital malformations following the pattern of certain syndromes. CONCLUSION: A wide spectrum of causes were noted. Androgen insensitivity syndrome was the commonest. In Saudi Arabia, where consanguineous mating is high, 5-α-reductase is also a common cause of 46XY DSD.
Asunto(s)
Trastorno del Desarrollo Sexual 46,XY/diagnóstico , Trastorno del Desarrollo Sexual 46,XY/genética , Desarrollo Sexual/genética , Humanos , Masculino , Estudios Retrospectivos , Arabia SauditaRESUMEN
OBJECTIVES: The aim of this study is to determine congenital adrenal hyperplasia (CAH) with the pattern of CYP21A2 gene-mutations in Saudi children. METHODS: Between January 2011 and March 2014 at King Fahad Military Complex, Dhahran, Saudi Arabia, we thoroughly examined 11 patients with CAH and 2 asymptomatic individuals with a history of affected siblings. Additionally, we sequenced the full coding regions of the CYP21A2 gene and screened the gene for deletion(s)/duplication(s) using the multiplex ligation-dependent probe amplification (MLPA) technique. RESULTS: Nine patients had classic CAH and presented with ambiguous genitalia and/or salt losing crisis. Two patients had the non-classic form of CAH and presented with precocious puberty. The remaining 2 subjects were asymptomatic. Screening the CYP21A2 gene, we detected p.Gln318X mutation in 4 patients, c.290 -13 C>G (IVS2-13C>G) in another 4, and a common deletion, involving exons 6 and 8 in 3 patients. CONCLUSION: Our strategy of Sanger sequencing followed by MLPA was very successful in detecting CYP21A2 mutations in all patients with CAH.
Asunto(s)
Hiperplasia Suprarrenal Congénita/genética , Eliminación de Gen , Duplicación de Gen , Esteroide 21-Hidroxilasa/genética , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Arabia SauditaRESUMEN
BACKGROUND: Rickets can occur due to Vitamin D deficiency or defects in its metabolism. Three rare genetic types of rickets with different alterations of genes have been reported, including: Vitamin D dependent rickets type 1, Vitamin D dependent rickets type 2 or also known as Vitamin D resistant rickets and 25 hydroxylase deficiency rickets. Vitamin D dependent rickets type 1 is inherited in an autosomal recessive pattern, and is caused by mutations in the CYP27B1 gene encoding the 1α-hydroxylase enzyme. We report here a new mutation in CYP27B1, which lead to Vitamin D dependent rickets type 1. CASE PRESENTATION: We report on a 13-month-old Arabic Saudi girl with Vitamin D dependent rickets type 1 presented with multiple fractures and classic features of rickets. A whole exome sequencing identified a novel pathogenic missense mutation (CYP27B1:Homozygous c.1510C > T(p.Q504X)) which results in a protein truncating alteration. Both parents are heterozygous carriers of the mutation. Based on data search in Human Gene Mutation Database, 63 CYP27B1 alterations were reported: only 28.6% are protein truncating (5 nonsense, 13 frameshift insertions/deletions, 0 gross deletions), while 61.9% are non-truncating (38 missense, 1 small in-frame insertions/deletion), and 9.5% are possible protein-truncating (5 splice, 1 regulatory). CONCLUSION: The deleterious effect of this alteration, which was the only mutation detected in the CYP27B1 common gene of Vitamin D dependent rickets type 1 in the proband, and its autosomal recessive inheritance fashion, both support a pathogenic nature of this mutation as the cause of Vitamin D dependent rickets type 1.
Asunto(s)
25-Hidroxivitamina D3 1-alfa-Hidroxilasa/genética , Raquitismo Hipofosfatémico Familiar/genética , Mutación Missense , Árabes/genética , Calcio/uso terapéutico , Análisis Mutacional de ADN , Bases de Datos Genéticas , Suplementos Dietéticos , Raquitismo Hipofosfatémico Familiar/diagnóstico , Raquitismo Hipofosfatémico Familiar/tratamiento farmacológico , Raquitismo Hipofosfatémico Familiar/enzimología , Raquitismo Hipofosfatémico Familiar/etnología , Femenino , Predisposición Genética a la Enfermedad , Herencia , Homocigoto , Humanos , Lactante , Linaje , Fenotipo , Arabia Saudita , Vitamina D/uso terapéuticoRESUMEN
Umbilical venous catheterization in neonates is an intravascular infusion route for resuscitation and maintenance fluids, blood and blood products, parenteral nutrition, and hypertonic solutions that can be used as an alternative when peripheral venous access is not possible. When used, special precautions should be taken and guidelines followed to prevent rare but often fatal complications.