Evaluation of the Signs and Symptoms of Children for Whom a Vitamin D Test Is Requested: In Which Cases Do Pediatricians Want a Vitamin D Test?

OBJECTIVE: In this study, we aimed to assess the frequency of vitamin D deficiency according to age and sex in children and to investigate their relationship with demographic characteristics, presentation complaints, and accompanying clinical findings. MATERIALS AND METHODS: Vitamin D levels and demographic and clinical characteristics of 1505 children aged 2-18 years who applied to the hospital between January 01, 2017, and December 31, 2017, were analyzed. Patients who had a disease that could negatively affect vitamin D absorption and metabolism, who were diagnosed with rickets, or who took vitamin D supplements were excluded from the study. RESULTS: The median vitamin D level of children was 17.7 ng/mL, and the prevalence of vitamin D deficiency and insufficiency was 26.4% and 33.4%, respectively. Females were the group most at risk for vitamin D deficiency. Another group at risk for vitamin D deficiency was adolescents. Vitamin D deficiency or insufficiency was detected in approximately half of the school-age and preschool children. Of the patients, 18% were admitted to the hospital by their parents to have their vitamin D levels checked. No health problems were detected in 47.7% of the patients whose vitamin D level was checked. Neurological complaints were more common in patients with vitamin D deficiency or insufficiency when compared to the group with normal vitamin D levels (P < .001). CONCLUSIONS: The risk of vitamin D deficiency in children is highest in the female sex and adolescent age group. Neurological complaints are more likely to be associated with vitamin D deficiency or insufficiency.

Longitudinally extensive transverse myelitis in childhood: Clinical features, treatment approaches, and long-term neurological outcomes.

AIM: Longitudinally extensive transvers myelitis (LETM) is a rare and disabling condition in childhood. The aim of the present study was to share experiences from our center regarding the treatment features and clinical and radiologic course in our LETM patients in light of the literature data. MATERIAL AND METHOD: The study was designed as cross-sectional and included children who followed for LETM at our pediatric neurology clinic between 2010 and 2019. ATM was diagnosed according to the diagnostic criteria report from the Transverse Myelitis Consortium Working Group. LETM was defined as the presence of spinal cord lesions spanning a length of 3 or more consecutive vertebral segments. The patients' medical records were examined in terms of demographic characteristics, presenting symptoms, history of infection prior to and during LETM, prodromal history, neurological examination, laboratory and radiological findings, clinical course, and treatment. The Barthel Index was used to assess the physical independence in activities of daily living of patients with LETM who were followed for at least one year. RESULTS: A total of 15 (8 girl) patients were included in the study. The patients were between 1 and 17 years of age. Presenting symptoms included inability to walk in 12 patients, incontinence in 9 patients, low back pain in 4 patients, abdominal pain in 2 patients, and inability to use the arms in 2 patients. In Barthel Index assessment of physical independence in activities of daily living, 8 patients were evaluated as completely independent, 3 patients as moderately dependent, and 2 patients as slightly dependent. When the 4 patients with motor area impairment and moderate dependency according to the Barthel Index were examined, it was noted that all of them had been admitted 4 days after the onset of symptoms and that 2 (13.3%) had cervicothoracic involvement and 2 (13.3%) had involvement of the entire cord. CONCLUSION: Shorter delay from symptom onset to initiation of immunomodulatory therapy as well as effective rehabilitation resulted in favorable outcomes, with the most noticeable improvement in the areas of motor function and incontinence.

Minor dysmorphic features in a patient with papillorenal syndrome: A Case Report.

Papillorenal syndrome, also known as renal coloboma syndrome, is characterised by congenital optic disc anomalies and renal abnormalities. Mutations in the PAX2 gene, which plays a critical role in embryogenesis, cause this syndrome. Other related anomalies are less commonly observed. To our knowledge, this is the first case reported in the literature in which Papillorenal syndrome accompanied various dysmorphic features.

Evaluation of radiologic evidence of metabolic bone disease in very low birth weight infants at fourth week of life.

AIM: The aim of this study is to determine the incidence of metabolic bone disease (MBD) and assess the risk factors for development radiologic evidence of MBD. METHODS: Preterm infants with gestational age ≤32 weeks and birth weight ≤1500 g were included in this prospective study. Metabolic bone disease was defined as hypophosphatemia (phosphorus levels <4 mg/dl), ALP levels >450 U/L, or radiologic findings of MBD at four weeks of age. RESULTS: The study included 254 infants (gestational age: 29 (27-30) weeks, birth weight: 1130 g (960-1300)). Metabolic bone disease was diagnosed in 96 patients (37%); 48 infants had only radiologic evidence of MBD, 24 infants had only biochemical diagnosis of MBD, and 24 infants had both radiologic evidence of MBD and biochemical diagnosis of MBD. CONCLUSIONS: Our results showed that radiologic evidence of MBD existed in some infants with normal biochemical results. That finding may guide further development of screening programs for MBD.

Analysis of Refugee Children Hospitalized in a Tertiary Pediatric Hospital.

Refugee children are defined as an at-risk population as they have a high risk of physical and mental health conditions. While data exist regarding the mental health of refugee children, there are limited data about their medical health issues and mortality. Therefore, this study aimed to analyze the demographic data, clinical results, treatment/management data, and mortality data of hospitalized refugee children. This is a descriptive study that analyzed the demographic data, clinical findings, treatment/management data, and mortality data of 728 refugee children aged between 1 month and 18 years who were hospitalized in a tertiary pediatric hospital between 2013 and 2018. During the 5 year duration of this study (2013-2018), there were 12,031 patients hospitalized in the department of general pediatrics. Of these patients, 728 (6%) were refugee children [median age 1.2 (IQR 4.4) years]. The most frequent ethnic origin was Syrian, followed by Iraqi and Afghan [465 (63.87%); 174 (23.9%), and 39 (5.3%), respectively]. The median duration of hospitalization was 6 (IQR 6) days. Those refugee patients who were hospitalized in the pediatric intensive care unit were significantly younger [median age 3.7 (IQR 9.4) years]. The mortality rate in the department of general pediatrics was 16.4% for refugee patients and 8.6% for non-refugee patients (p = 0.001). A logistic regression model revealed that factors associated with mortality included younger age (OR 1.6; CI 1.2-2.1) and being a refugee (OR 2.1; CI 1.3-3.2). Our study revealed detailed knowledge about demographic, clinical, and mortality data, with the largest known series about refugee children in the literature. The results show that mortality rates are significantly higher in refugee pediatric patients who are hospitalized in Turkey than in non-refugee patients.

Parental Attitudes and Knowledge About Lumbar Puncture in Children.

OBJECTIVES: Lumbar puncture (LP) is fundamental for diagnosis and treatment; however, some parents do not provide consent for their children to undergo the procedure, which can make diagnosis and determination of the optimal treatment difficult. The present study aimed to describe the level of knowledge and attitudes toward LP of parents whose children were scheduled to undergo the procedure. METHODS: A prospective cross-sectional descriptive study of a convenience sample of parents of 84 children aged 2 months to 17 years scheduled for LP at a single academic children's hospital between 2015 and 2017. Parents were administered a written survey and interviewed by a physician other than the person who did the LP. Data on parental level of knowledge and attitudes regarding LP, in addition to reasons for refusal, were collected.The parents of 84 patients scheduled for LP due to various indications were administered a face-to-face survey interview. The survey was used to collect parental demographic data, as well as opinions and knowledge about LP and postinterventional complications. RESULTS: The mean age of the 84 patients (57% male and 43% female) was 6.4 ± 5.17 years. Lumbar puncture was planned for the presumptive diagnosis of neurological disease in 45.25% of the patients, central nervous system infection in 45.25%, and acute encephalopathy in 9.5%. Among the parents, 65% (n = 55) had no knowledge or attitude about LP prior to the survey interview. The most common parental concern related to LP was paralysis (25%), followed by infertility (2%), mental retardation (1%), and disease progression (1%). Only 4.7% of the parents did not provide consent for their child to undergo LP. CONCLUSIONS: We found that most parents had little knowledge about LP, and the most common parental concern was paralysis. Despite this, in our study, only 5% of parents did not consent to LP.

Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel Mutation

Hypomagnesemia is a rare cause of seizures in childhood but should be kept in mind in recurrent and intractable seizures and hypocalcemia in communities where consanguineous marriages are common. Familial hypomagnesemia with secondary hypocalcemia is a rare genetic cause of hypomagnesemia, due to variants in the transient receptor potential melastatin 6 (TRPM6) genes. Here, a three year-old boy with a novel variant in this gene and had difficulties with enteral hypomagnesemia treatment is presented. He had recurrent seizures since two years of age and was diagnosed with epilepsy and treated with multiple antiepileptic drugs. Subsequently, he was diagnosed with rickets due to severe hypocalcemia at another center. The patient was hypotonic and neurodevelopmentally poor. The most prominent laboratory finding was of hypomagnesemia with secondary hypocalcemia. The genetic analysis revealed a novel variant in the TRPM6 gene. After parental treatment of intravenous magnesium (Mg2+) sulfate and calcium, the treatment was switched to enteral Mg2+ medications, due to persistent hypomagnesemia and the gastrointestinal side-effects, different oral preparations were used. The patient was stable on an oral maintenance dose of Mg2+ oxide with borderline blood Mg2+ levels and resolution of hypocalcemia. Hypomagnesemia is one of the causes of hypocalcemia. Enteral replacement is the key treatment but the treatment should be individualized for each patient. Normalization of hypomagnesemia is not always easy and should not be the aim of the treatment.

Clinical features in 305 patients with juvenile idiopathic arthritis: A single center Turkish Study.

BACKGROUND: Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatologic disease of childhood. The various subtypes of JIA differ in clinical features and treatments. The aim of this study was to analyze the frequency of JIA subtypes, patient demographic and clinical features, as well as the rates of macrophage activation syndrome, uveitis, and remission in Turkish JIA patients treated at a single center, and to compare the findings to those in the literature. METHODS: The files of all JIA patients treated at our pediatric rheumatology department between January 2017 and January 2019 were retrospectively reviewed. Patient demographic, clinical, and laboratory data were obtained from the patients' files and the hospital database. RESULTS: The study included 305 patients (180 females) with a mean age at onset of 7.83 ± 4.62 years. Among all the JIA subtypes, the most frequent was oligoarthritis (41.6%), followed by enthesitis-related arthritis (29.2%), rheumatoid factor (RF)-negative polyarthritis (13.4%), systemic arthritis (9.5%), RF-positive polyarthritis (2.6%), psoriatic arthritis (2.0%), and undifferentiated arthritis (1.6%). At the time of data collection, 278 patients (91.0%) were in remission, whereas 27 patients (9.0%) had active disease. Macrophage activation syndrome developed in 12 of the 29 (41.0%) systemic arthritis. Uveitis was noted in 32 (10.0%) patients. Biological agents were administered in 142 of the patients. CONCLUSIONS: The available data indicate that JIA as a whole is a heterogeneous disease with significant variability in course and long-term outcome. As such, each patient should be evaluated according to his / her disease subtype.

An investigation into the association between latent toxoplasmosis and suicide attempts among adolescents.

INTRODUCTION: There have been several studies investigating the association between Toxoplasma gondii seropositivity and psychiatric disorders although there is insufficient data on causality. Suicide, depression, and anxiety disorders have been especially investigated in this regard. In this study, we aimed to investigate whether there is any causal association between Toxoplasma gondii seropositivity and suicide attempts in adolescents. METHODOLOGY: This is a case-control study conducted between January and December 2019. A total of 27 adolescents who had attempted suicide and were aged between 12 and 18 years were included in the study. 26 age and sex ratio matched healthy volunteers were taken as the control group. A possible association between suicide attempts and Toxoplasma gondii serology (IgM and IgG) was investigated.. RESULTS: The suicide attempt group consisted of 17 females and 10 males. The mean age was 15.9 ± 1.4 (13.5-17.9) years. Toxoplasma gondii IgG seropositivity was 3.7% (1/27) in the suicide attempt group and 3.8% (1/26) in the control group. There was no significant association between the suicide attempt group and the control group in terms of the presence of Toxoplasma gondii IgG antibodies (p > 0.05). CONCLUSION: Our study is one of the few studies examining the association between Toxoplasma gondii seropositivity and suicide attempts in adolescents yet we did not find any significant association. Further evidence is needed to clarify this controversial issue.

Nutritional Rickets with Severe Complications in Syrian and Iraqi Refugee Children.

We investigated the presence of nutritional rickets in Syrian and Iraqi refugee infants who presented to hospital in Turkey in 2017. 25(OH)D levels were examined in 77 refugee children. Nutritional rickets was diagnosed in 22 (28.5%) children; 11 patients with rickets did not follow up.

Survival of periviable infants: 5-year experience at a single center.

Objectives: The primary aim of the present study was to investigate the survival rates of periviable births in a referral Level III NICU center in Turkey; the secondary aim was to determine the perinatal and natal risk factors related to mortality.Methods: This retrospective cross-sectional study was conducted at the Neonatal Intensive Care Unit between 1 January 2011 and 31 December 2015. All live deliveries occurring from 22 0/7 weeks to 25 6/7 week of gestation were included in the study (total n = 165). We documented prenatal, natal, and postnatal clinical processes in each case and assessed morbidity, mortality, and factors related to long-term prognosis.Results: While none of the infants born at 22 weeks of gestation survived until discharge, the survival rates for those admitted to the NICU were 7.5% for infants born at 23 weeks, 29.1% at 24 weeks, and 43.5% at 25 weeks. A total of 46 survived (27.9%), and follow-up data beyond 12 months were available for 22. The prevalence of neurodevelopmental impairment or neurosensory impairment was inversely associated with gestational age.Conclusions: The most important risk factors associated with mortality in periviable infants were SNAPPE score, antenatal corticosteroid use, and gestational age.

A Rare Cause of Swelling and Pain in Extremities in Children: Complex Regional Pain Syndrome.

Complex regional pain syndrome is a condition of uncertain etiology characterized by spontaneous or stimulus-induced pain that is out of proportion to the inciting event. We report a 14-year-7-month-old girl with swelling of the left hand and wrist, was diagnosed as complex regional pain syndrome. The patient was treated successfully with physical therapy and non-steroidal anti-inflammatory drugs. This condition should be kept in mind in the differential diagnosis of musculoskeletal non-inflammatory and inflammatory pains.

Secondary hemophagocytic lymphohistiocytosis in pediatric patients: a single center experience and factors that influenced patient prognosis.

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening syndrome of excessive immune activation. Secondary HLH syndrome develops as a complication of infection, drugs, rheumatologic conditions, or malignancy. The main objectives of this work were to identify the etiology of secondary HLH and prognostic factors associated with mortality. Patients diagnosed with secondary HLH, between January 2011 and December 2016, were retrospectively included in this study. We analyzed clinical and laboratory findings as well as prognostic factors from 24 pediatric patients diagnosed with secondary HLH. The mean age of patients at the time of diagnosis was 79.9 ± 68.7 months (range: 2-202) and 54.2% of the patients were male. The most frequent HLH-2004 criterion was fever (100%). Underlying triggers of HLH were as follows: 13 (54.1%) infections, juvenile idiopathic arthritis in 5 patients (20.8%), drugs in 3 patients (12.5%), malignancies in 2 (0.8%), Kawasaki disease in 1 (0.4%) patient, and 1 (0.4%) with unknown triggers. The median time of diagnosis was 3 days (1-67 days). Overall, the mortality rate was 20.8%. In our logistic regression model, factors associated with mortality were decreased albumin levels (OR1 = 2.3[1.48-3.43]) and etoposide usage (OR2 = 1.22 [1.14-1.89]). The patient's 30-day survival was inferior among patients whose albumin level was 2 g/dL or less compared to those over 2 g/dL. Increased awareness of the underlying condition is critical in HLH patients. Our study emphasizes the prognostic significance of albumin level.

Exposure to and use of mobile devices in children aged 1-60 months.

The present study was conducted to determine young children's (aged 1-60 months) exposure to and use of mobile devices. The study included 422 parents of children aged 1-60 months admitted to pediatric outpatient clinics. A questionnaire was administered to the parents via face-to-face interview. Children's overall exposure to mobile devices was 75.6% (n = 319). Of the children, 24.4% (n = 103) had never used a mobile device. Among the children that had used a mobile device, 20.6% (n = 66) were aged between 1 and 12 months; 24.5% (n = 78) were aged between 13 and 24 months. The median age at the first time use of a mobile device was 12 months. The youngest child that used a mobile device was 6 months old. Tablets had a significant difference in the age at first use compared with other mobile media types (P < 0.01). Children's overall mobile device ownership was 30.7% (98/319) in frequency. There was a positive relationship between mobile device ownership and age (p < 0.001). The most commonly owned mobile device was a "tablet" at a frequency of 68.4% (67/98). The frequency of tablet ownership was inversely associated with household income (P < 0.01). Of the children that used mobile devices, 25.7% (82/319) used multiple mobile devices simultaneously. Among 422 children, 15.9% (n = 67) had a tablet in their room. The frequency of tablet use and ownership was inversely related to the mother's educational level (P < 0.01). The parents reported that 22.3% (n = 71) never received help while navigating the mobile device. The most frequent activity with mobile devices was watching videos (70.8%, n = 226). Of the parents, 59.6% (190/319) let their children use mobile devices while they are doing daily tasks or domestic chores. Of the parents, 91.5% (n = 386) reported not having been informed by a doctor about the effects of mobile devices on their children.Conclusion: This study demonstrates a high prevalence of exposure to mobile devices in young children. The frequency of tablet use and ownership of offspring was inversely related with maternal educational level and household income. What is Known: • Mobile phones and other similar mobile devices are now embedded in the daily lives of children. • There are limited data about mobile media use in early childhood, and few guidelines on which clinicians can base their recommendations. What is New: • The exposure to mobile devices is high in young children aged 1-60 months. • The frequency of tablet use and ownership of offspring was inversely related to household income and maternal educational level.

Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia.

Argininemia is a rare hereditary disease due to a deficiency of hepatic arginase, which is the last enzyme of the urea cycle and hydrolyzes arginine to ornithine and urea. Herein we report a patient with arginase I (ARG1) deficiency who presented with recurrent nonconvulsive status epilepticus and liver failure. A novel homozygous frameshift mutation c.703_707delGGACTinsAGACTGGACC (p.G235Rfs*20) was detected.

Changes in thiol/disulfide homeostasis in juvenile idiopathic arthritis.

BACKGROUND: The pathogenesis of juvenile idiopathic arthritis (JIA) remains unknown, but imbalance between the oxidant and antioxidant defense systems may play a role. Measuring thiols in plasma provides an indirect indication of antioxidative defense. The aim of the present study was to investigate the association between JIA and dynamic thiol/disulfide homeostatic status. METHODS: This case-control study involved 34 JIA patients and 30 age- and gender-matched healthy controls. The patients were divided into subgroups according to Simplified Disease Activity Index (SDAI) score: active, SDAI > 3.3; remission, SDAI ≤ 3.3. RESULTS: Native thiol and total thiol were significantly lower in the JIA group than in the control group (P = 0.001). There was no significant difference in the disulfide/native thiol, disulfide/total thiol, and native thiol/total thiol ratios between the JIA and control groups (P > 0.05). Based on SDAI score, 22 JIA patients were in the remission subgroup, and 12 JIA patients were in the active subgroup. Native thiol and total thiol were significantly lower in the active JIA subgroup than in the remission subgroup (P = 0.001), but there were no significant differences in the other parameters. There was no significant difference in thiol and disulfide levels between systemic-onset JIA and other JIA (P > 0.05). CONCLUSIONS: Plasma thiol is lower in JIA patients, especially during periods of active disease, than in healthy controls, indicating that low thiol might be an important factor in the etiology of JIA and that antioxidant systems are negatively affected by inflammatory diseases, especially during periods of active disease.

Sonographic Assessment of the Fetal Penile Development.

The intrauterine diagnosis of micropenis is an important clue in the discernment of some syndromes and hormonal deficiencies. In this study, we tried to establish reference ranges for the fetal penile length and penile width. This prospective cross-sectional study included 179 healthy singleton male fetus pregnancies that were between 17 and 37 weeks of gestation. Of these pregnancies, the fetal penile length and width were measured using trans-abdominal ultrasound. The correlation coefficients of gestational age with penile measurements were calculated. We observed that as the gestational age increased both the penile length and width increased (p < .0001, correlation coefficients R(2) = 0.854 and R(2) = 0.883; respectively). Reference values of the penile length in the Turkish Population were similar to previously evaluated populations including English, American and Israeli populations. The penile width measurement is a convenient way to diagnose micropenis, but penile width measurement alone might miss some penile abnormalities including chordee and hypospadias.