Cystinosis in Eastern Turkey.

BACKGROUND: This study was conducted to investigate CTNS (cystinosin, lysosomal cystine transporter) gene mutations and the clinical spectrum of nephropathic cystinosis among patients diagnosed with the disease in a single center in Turkey. METHODS: Patients' clinical and laboratory data were extracted from an electronic health registry. Molecular CTNS gene analysis was performed using either next-generation sequencing or Sanger sequencing. RESULTS: Eleven patients (age range: 1.5-12 years) from nine families were identified. The presenting complaint was growth retardation in seven patients; polydipsia and polyuria in three patients; and vomiting in two patients. At presentation, electrolyte loss was noted in all patients, of which eight patients presented with metabolic acidosis, and three patients presented with metabolic alkalosis. All patients also presented with proteinuria and glucosuria, and four patients developed varying degrees of renal insufficiency, for which peritoneal dialysis was initiated in one patient. Cystine crystals were detected via ocular examination in one patient at presentation. No cystine crystals were detected among patients who underwent bone marrow aspiration. In the CTNS gene, a p.T7FX7 (c.18-21del4bp) mutation was detected in three patients, whereas a p.E227E (c.681 G>A) (homozygous) mutation was detected in eight patients. CONCLUSIONS: We detected two distinct mutations, p.T7FX7 (c.18-21del4bp) and p.E227E (c.681 G>A) (homozygous), in the CTNS gene in 11 patients with cystinosis from the East Anatolian region of Turkey. Patients with a homozygous c.681 G>A (p.E227E) mutation are more likely to develop chronic renal failure and should be monitored closely, whereas patients with a p.T7FX7 (c.18-21del4bp) mutation have a milder phenotype. Additionally, metabolic alkalosis does not exclude cystinosis, although cystinosis is a cause of proximal renal tubular acidosis.

Is platelet mass a more significant indicator than platelet count of closure of patent ductus arteriosus?

BACKGROUND: The purpose of this study was to evaluate whether or not platelet mass contributes to closure of patent ductus arteriosus (PDA) in premature newborns. STUDY DESIGN AND SUBJECTS: This retrospective study included 115 preterm newborns with hemodynamically significant PDA (hPDA) and 120 newborns without PDA. The newborns' platelet count, mean platelet volume (MPV) and platelet distribution width (PDW) were noted from their files and the platelet mass (platelet count plus MPV/10(3)) was calculated. Patients with congenital abnormality, persistent pulmonary hypertension or sepsis were not included in the study. RESULTS: Platelet count and PDW were found to not be risk factors for closure of hPDA (p > 0.05), but both high platelet mass (OR 1.25; 95% CI 1.12-1.41) and MPV (OR 1.87; 95% CI 2.52-3.85) were determined to be independent risk factors for hPDA. CONCLUSIONS: Platelet mass may be a more significant indicator than platelet count of closure of hPDA in preterm newborns.

Evaluation of Lymphocyte Subgroups in Children With Down Syndrome.

In this study, lymphocyte subgroups including blood CD3, CD4, CD8, CD4/CD8, CD19, and CD16.56 values were analyzed in children with Down syndrome (DS). The study includes 85 children with DS, followed at Department of Pediatrics, Faculty of Medicine, Yüzüncü Yil University and 64 healthy age-matched control participants. Blood CD3, CD4, CD8, CD4/CD8, CD19, and CD16.56 values were examined in both the groups. Significantly decreased blood CD3, CD4, and CD19 values were found in the study group (P < .05) when compared with the control group. In conclusion, we would like to emphasize that blood CD3, CD4, and CD19 levels were found to be decreased in children with DS. Based on these finding, we think that these decreased lymphocyte subgroups might be responsible for increased susceptibility to infections in children with DS.

A confusing coincidence: neonatal hypoglycemic seizures and hyperekplexia.

Hyperekplexia is a rare, nonepileptic, genetic, or sporadic neurologic disorder characterized by startle responses to acoustic, optic, or tactile stimuli. Genetic defects in glycine receptors as well as encephalitis, tumors, inflammation, and disgenesis are among the etiologic causes of the disease. The main problem in hyperekplexia is the incomplete development of inhibitory mechanisms or exaggerated stimulation of excitatory mediators. Hyperekplexia is often confused with epileptic seizures. Here we present a case with hypoglycemic convulsions coexisting with hyperekplexia, causing diagnostic difficulty.

Idiopathic neonatal colonic perforation.

Though the perforation of the colon in neonates is rare, it is associated with more than 50% mortality in high-risk patients. We report a case of idiopathic neonatal perforation of the sigmoid colon in an 8-day-old, healthy, male neonate without any demonstrable cause.

Dermatological findings of vitamin B12 deficiency and resolving time of these symptoms.

AIM: The mucocutaneous changes observed during vitamin B12 deficiency in children have been published only as case studies and small case series. In this study, we aimed to demonstrate the frequency of mucocutaneous changes (particularly hyperpigmentation) seen during vitamin B12 deficiency and resolving time of these symptoms with vitamin B12 treatment. MATERIAL AND METHODS: This prospective study was conducted at the pediatrics outpatient clinic of Harran and Yuzuncu Yil University Faculty of Medicine, among 57 patients, aged between 6 and 24 months, who were diagnosed with vitamin B12 deficiency following various examinations and tests. A detailed examination was performed in respect to skin and mucosal findings. Patients with vitamin B12 deficiency were administered intramuscular cyanocobalamin. Prospective examination was continued, and resolving time of symptoms after treatment was recorded. RESULTS: The mean age of the patients enrolled in the study was found to be 12.75 ± 4.75. Hyperpigmentation was reported in 49 (85.96%) patients enrolled in the study; atrophic glossitis in 40 (70.17%), brittle and matt hair in 13 (22.80%), skin lesions (particularly diaper dermatitis) in eight (15.78%) and cheilosis in four (7.01%) patients. Three months after the treatment initiation, hyperpigmentation improved in 87.75%, atrophic glossitis in 97.5% and brittle and matt hair in 92.3% of the patients. Five patients (8.77%) with continuing pigmentation by the end of sixth months were considered as nonresponsive to the treatment. CONCLUSION: Deficiency of vitamin B12 should be considered in the differential diagnosis of infants who present with skin and mucosal lesions.

A very rare entity of diabetes insipidus associated with Edwards syndrome.

Edwards syndrome is the second most commonly seen trisomy. It was first described by John Hamilton Edwards in 1960. Although most cases result in termination or foetal loss, live births have been documented in 5%. Edwards syndrome is characterized by multisystem anomalies, of which holoprosencephaly (HPE) is observed in 4-8% of cases. The clinical findings correspond to the degree of HPE malformation. Convulsions and endocrinopathies are among the severe clinical findings. The most common endocrinopathies are central diabetes insipidus (DI), hypothyroidism, hypocortisolism and growth hormone deficiency. The coexistence of holoproencephaly and DI in Edwards syndrome was discussed under the light of literature.

The effect of montelukast on wheal reactions in skin prick tests: a double-blind-placebo-controlled randomized trial.

OBJECTIVE: It is well-known that number of drugs may interfere with wheal reactions in skin prick test. However, the effect of long-term use of montelukast, a cystenil leukotriene receptor antagonist, on skin prick test hasn't been full elucidated. The aim of present study was to demonstrate the effect of montelukast on skin prick tests (SPT). METHODS: This is a single-center, randomized, double-blinded, placebo-controlled study including two treatment periods with a wash-out interval. The subjects received montelukast (5 mg per day), fexofenadine HCl (60 mg per day) and placebo (lactose) with a double-blinded manner during 7- and 21-days treatment periods with a 14 days wash-out period. Dermatophagoides farinae (D. farinae) was used as the skin test material, while histamine as positive control and normal saline as negative control. Overall, 7 skin prick tests were performed at following time points: before treatment periods, on the last days of both treatment periods, 24 h after completion of treatment periods, and on the last day of 14-days interval. RESULTS: Sixty house dust mite (HDM) allergic children (23 girls and 37 boys) with allergic rhinitis and/or asthma completed the study. Mean age was 8.3 ± 2.0 years. In the fexofenadine group, a significant suppression was observed in post-treatment values when compared to baseline values in SPT with D. farinae (p = 0.019). In the montelukast group, no significant suppression was observed in SPT with D. farinae at all time points when compared to baseline. CONCLUSIONS: Our results showed that montelukast had no effect on measurements of SPT. Thus, we concluded that there is no need to discontinue the treatment in order to perform SPT in patients receiving montelukast, even in those on montelukast treatment for at least 21 days.

Oxidant/antioxidant system markers and trace element levels in children with nutritional rickets.

OBJECTIVE: To determine the oxidative stress and trace element levels in vivo in patients with nutritional rachitism associated with vitamin D deficiency. MATERIALS AND METHOD: A total of 30 patients, 18 males and 12 females, were included in the study. Age, sex, medical history, vital, and physical examination findings of each patient documented at presentation were recorded. Serum calcium, phosphorus, alkaline phosphatase, parathormone, and 25-OH vitamin D levels, as well as oxidant and antioxidant system parameters and trace element levels were studied. After being diagnosed with rachitism, the patients were administered a single dose of 300,000 IU vitamin D by intramuscular injection. The same analyses were repeated post-treatment. Thirty children with normal anthropometric measurements were included as the control group. The analyses described above were performed only once for the control group. RESULTS: Serum calcium, phosphorus, alkaline phosphatase, parathormone, and 25-OH vitamin D levels were different between the controls and children in the patient group (p<0.001). Analysis of trace element levels demonstrated markedly lower pretreatment zinc levels for the patient group compared to the controls, with a statistically significant difference (p=0.001). Comparison of pretreatment oxidant and antioxidant system markers between the patient and control groups demonstrated higher values for vitamin C, ß-carotene, reduced glutathione, and superoxide dismutase in the control group, whereas MDA was higher in the patient group. CONCLUSION: The present study demonstrated increased oxidative stress, reduced antioxidant defence system in patients with nutritional rachitism, with reduced oxidative stress and a pronounced improvement in the antioxidant system with vitamin D treatment.