Clinical findings of tuberous sclerosis in Turkish children

We aimed to define clinical characteristics and laboratory findings of tuberous sclerosis in 17 patients. Age at presentation varied from 5 days to 13 years. Male to female ratio was 10/7. Genetic transmission was documented in 23.5% of cases. The most frequent presentation of the disease, hypomelanotic macules were seen in 94.1% (clinically visible in 15 subjects and visible with Wood's light in 1 subject). Amongst skin manifestations facial angiofibromas were seen in 41.2%, forehead plaque in 5.9%, Shagreen patches in 23.5%. Brain involvement was documented in 94.1% of cases: subependymal nodules in 94.1%, cortical tubers in 76.5%. Seizures occured in 88.2% of the patients. The relative frequency of infantile spasms within all patients with symptomatic epilepsy was 26.7%. Cardiac rhabdomyoma was found in 37.5% of the patients, renal angiomyolipoma in 35.3%, retinal hamartoma in 33.3%, and hepatic angiomyolipoma in 33.3%. Up to one-half of all patients had normal intelligence and normal motor development. A large profile of neurological disability changing from a normal condition to a severe motor-mental retardation was noted in pediatric patients with tuberous sclerosis. Almost all of cases with motor-mental retardation had also epileptic seizures. The relative frequency of infantile spasms as compared with all kind of epilepsy was 26.7%. In addition to typical features of the disease several atypical manifestations such as autism, choreathetosis and hemangioma like cutaneous lesion were noted in this series

Clinical and Molecular Findings of Nine Cases with Tay- Sachs Disease From Turkiye

Objective: Tay-Sachs disease is a fatal inherited lysosomal storage disease that mostly has an early infantile onset. We presented a case series of Tay-Sachs disease, describe the clinical and molecular findings, and compare the genetic spectrum with previously reported mutations from Turkiye.Methods: Patients with Tay-Sachs disease who were referred to the Istanbul University, Istanbul Faculty of Medicine, Department of Medical Genetics between January 2016 and December 2021 were included in this study. The diagnosis was confirmed by determining the level of serum 0-hexosaminidase activity and the detection of a biallelic related variant upon Sanger sequencing of the HEXA gene. The clinical and molecular findings of nine cases were re-evaluated. Results: Three disease-causing variants in the HEXA gene including c.78G>A (p.(Trp26Ter)) in three cases, c.1177C>T (p.(Arg393Ter)) in two cases, and c.1100_1111del (p.(Gly367_Tyr370del)) in three cases were determined. Moreover, a novel c.786C>G (p.(His262Gln)) variant was detected in one case. All of the stated variants were identified in the homozygous state.Conclusion: Our study both reassessed and expanded the known mutation spectrum of Tay-Sachs disease in Turkiye. Given the expanding horizon of newborn screening and population carrier testing, understanding the spectrum of population-specific disease-causing variants will facilitate early diagnosis of patients and carriers

Outcome of the Respiratory Syncytial Virus related acute lower respiratory tract infection among hospitalized newborns: A prospective multicenter study

PubMed ID: 26365531Aim: To determine the incidence and outcomes of respiratory syncytial virus (RSV)-related acute lower respiratory tract infection (ALRI) including morbidity, nosocomial infection and mortality among newborn infants who were admitted to the neonatal intensive care units (NICUs).Methods: A multicenter, prospective study was conducted in newborns who were hospitalized with community acquired or nosocomial RSV infection in 44 NICUs throughout Turkey. Newborns with ALRI were screened for RSV infection by Respi-Strip®-test. Main outcome measures were the incidence of RSV-associated admissions in the NICUs and morbidity, mortality and epidemics results related to these admissions.Findings: The incidence of RSV infection was 1.24% (n: 250) and RSV infection constituted 19.6% of all ALRI hospitalizations, 226 newborns (90.4%) had community-acquired whereas 24 (9.6%) patients had nosocomial RSV infection in the NICUs. Of the 250 newborns, 171 (68.4%) were full-term infants, 183 (73.2%) had a BW >2500 g. RSV-related mortality rate was 1.2%. Four NICUs reported seven outbreaks on different months, which could be eliminated by palivizumab prophylaxis in one NICU.Conclusion: RSV-associated ALRI both in preterm and term infants accounts an important percent of hospitalizations in the season, and may threat other high-risk patients in the NICU. © 2015 Taylor & Francis

Outcome of the Respiratory Syncytial Virus related acute lower respiratory tract infection among hospitalized newborns: A prospective multicenter study

PubMed ID: 26365531Aim: To determine the incidence and outcomes of respiratory syncytial virus (RSV)-related acute lower respiratory tract infection (ALRI) including morbidity, nosocomial infection and mortality among newborn infants who were admitted to the neonatal intensive care units (NICUs).Methods: A multicenter, prospective study was conducted in newborns who were hospitalized with community acquired or nosocomial RSV infection in 44 NICUs throughout Turkey. Newborns with ALRI were screened for RSV infection by Respi-Strip®-test. Main outcome measures were the incidence of RSV-associated admissions in the NICUs and morbidity, mortality and epidemics results related to these admissions.Findings: The incidence of RSV infection was 1.24% (n: 250) and RSV infection constituted 19.6% of all ALRI hospitalizations, 226 newborns (90.4%) had community-acquired whereas 24 (9.6%) patients had nosocomial RSV infection in the NICUs. Of the 250 newborns, 171 (68.4%) were full-term infants, 183 (73.2%) had a BW >2500 g. RSV-related mortality rate was 1.2%. Four NICUs reported seven outbreaks on different months, which could be eliminated by palivizumab prophylaxis in one NICU.Conclusion: RSV-associated ALRI both in preterm and term infants accounts an important percent of hospitalizations in the season, and may threat other high-risk patients in the NICU. © 2015 Taylor & Francis

Outcome of the Respiratory Syncytial Virus related acute lower respiratory tract infection among hospitalized newborns: A prospective multicenter study

© 2015 Taylor & Francis.Aim: To determine the incidence and outcomes of respiratory syncytial virus (RSV)-related acute lower respiratory tract infection (ALRI) including morbidity, nosocomial infection and mortality among newborn infants who were admitted to the neonatal intensive care units (NICUs).Methods: A multicenter, prospective study was conducted in newborns who were hospitalized with community acquired or nosocomial RSV infection in 44 NICUs throughout Turkey. Newborns with ALRI were screened for RSV infection by Respi-Strip®-test. Main outcome measures were the incidence of RSV-associated admissions in the NICUs and morbidity, mortality and epidemics results related to these admissions.Findings: The incidence of RSV infection was 1.24% (n: 250) and RSV infection constituted 19.6% of all ALRI hospitalizations, 226 newborns (90.4%) had community-acquired whereas 24 (9.6%) patients had nosocomial RSV infection in the NICUs. Of the 250 newborns, 171 (68.4%) were full-term infants, 183 (73.2%) had a BW >2500 g. RSV-related mortality rate was 1.2%. Four NICUs reported seven outbreaks on different months, which could be eliminated by palivizumab prophylaxis in one NICU.Conclusion: RSV-associated ALRI both in preterm and term infants accounts an important percent of hospitalizations in the season, and may threat other high-risk patients in the NICU