The time to and determinants of first fractures in boys with Duchenne muscular dystrophy.

Boys with vertebral fractures (VF) identified through routine spine radiographs had milder, less symptomatic, and fewer VF compared to those diagnosed with VF following consultation for back pain. Spontaneous (i.e., medication-unassisted) reshaping of fractured vertebral bodies was absent. Long bone fractures were present even before Duchenne muscular dystrophy (DMD) diagnosis in some boys. INTRODUCTION: The objective of the study was to determine the time to and characteristics of first fractures in Duchenne muscular dystrophy. METHODS: This study was a retrospective longitudinal study of 30 boys with DMD <18 years. Boys were classified into four groups according to their first fracture: those with VF identified on routine lateral spine radiographs, those with VF diagnosed following consultation for back pain, those with long bone fractures, and those without fractures. RESULTS: Compared to boys diagnosed with VF as their initial fracture following consultation for back pain, those with VF surveillance radiographs had shorter durations of glucocorticoid (GC) therapy at the time of VF diagnosis (median 1.6 versus 5.3 years, p < 0.01), higher areal (mean ± standard deviation -1.4 ± 0.7 versus -3.1 ± 0.8, p = 0.01), and volumetric (-0.3 ± 0.5 versus -2.6 ± 0.8, p < 0.01) lumbar spine bone mineral density Z-scores, as well as fewer VF (median 1.4 versus 5.2 per person, p < 0.01) and a lower median spinal deformity index (median 1.5 versus 9.5, p < 0.01). Vertebral body reshaping following VF was not observed. Ten boys sustained a long bone fracture as their first fracture at a mean age of 8.9 ± 4.0 years; four of these boys later sustained a total of 27 incident VF. CONCLUSIONS: Routine lateral spine radiographs led to detection of VF in their earlier stages, vertebral body reshaping following VF was absent, and VF were frequent after the first long bone fracture. These results support the inclusion of a lateral spine radiograph starting at the time of GC initiation as part of routine bone health monitoring in DMD.

A NEW ISOLATED 20q INTERSTITIAL DUPLICATION CASE AND ITS CLINICAL COMPARISON WITH SIMILAR ISOLATED CASES.

Duplications of 20q are rare. Here we report a 15 years old boy with de novo duplication of 17.1 Mb at chromosome 20q. We made a comparison with the other isolated 20q duplication cases. There are phenotypic similarities between the patients who have the same affected chromosomal regions. We also showed a clinical follow up of the patient. There may be a relationship with Glaucoma and Graves disease between the chromosomal region and these diseases may occur at the other patients when they get older.

Adrenal dysfunction in critically ill children.

Cortisol is the major glucocorticoid synthesized by the adrenal cortex and its secretion is under the control of hypothalamic-pituitary axis. There is an increase in corticotrophin-releasing hormone and corticotrophin secretion and a decrease in the negative-feedback effect during critical illness. Adrenal insufficiency (AI) in children with critical illness is defined as an inadequate glucocorticoid response, measured by the peak cortisol or the increment in the cortisol level following exogenous ACTH (corticotrophin) administration. Clinically apparent AI is uncommon in critically ill patients. The incidence of AI in critically ill children varies with the underlying disease, its severity and duration, and multiple different definitions for the diagnosis of AI. Most of the pediatric studies for evaluation of AI during critical illness focused on patients with sepsis or septic shock. In patients with sepsis or septic shock, decreased synthesis or release of corticotrophin-releasing hormone, corticotrophin, and cortisol by cytokines and other circulating mediators released during sepsis are the most likely mechanism of AI. Recent studies in critically ill children reported that the prevalence of AI was not significantly different between septic and nonseptic patients, but it was noteworthy that AI appeared to be common both in septic and nonseptic critically ill children. A multidisplinary approach is necessary to manage to AI in critically ill children. However, no concensus exists among pediatric intensivist and endocrinologysts on diagnosis or treatment of AI in pediatric critical illness.

A 45 X male patient with 7q distal deletion and rearrangement with SRY gene translocation: a case report.

Here we present a male newborn with multiple congenital anomalies who also has an extremely rare form of testicular disorder of sex development (DSD). His karyotype was 45X, without any mosaicism. SRY gene was positive by polymerase chain reaction (PCR), and rearranged on distal part of the 7th chromosome by fluorescence in situ hybridization (FISH) analysis. SRY, normally located on the Y chromosome, is the most important gene that plays a role in the development of male sex. SRY gen may be translocated onto another chromosome, mostly X chromosome in the XX testicular DSD. On the other hand very few cases of 45 X testicular DSD were published to date. Other clinical manifestations of our patient were compatible with distal 7 q deletion syndrome. To the best of our knowledge this is the first case of 45 X testicular DSD with SRY gene rearranged on the 7th autosomal chromosome.

Effects of vitamin D receptor gene polymorphisms on susceptibility to disease and bone mineral density in Turkish patients with type 1 diabetes mellitus.

BACKGROUND: Vitamin D receptor (VDR) gene is regarded as one of the candidate genes for type 1 diabetes mellitus (T1D) susceptibility and of some genetic factors involved in the development of osteoporosis in this group. STUDY DESIGN: We characterized the VDR gene polymorphism (BsmI, ApaI, TaqI, FokI and Cdx-2 binding site) in a group of Turkish patients with T1D (n=90) and correlated respective VDR genotypes with the bone mass and some parameters of bone turnover. RESULTS: There were no differences in the genotype frequencies of the BsmI, ApaI, TaqI and Cdx-2 polymorphisms in patients and control subjects. We found a significantly higher prevalence of the F allele/the FF genotype in the patients compared to controls (p=0,0031, odds 1.96 (1,27-3,01)). We observed no difference in markers of bone turnover (Serum levels of osteocalcin, PINP and alkaline phosphatase, urinary levels of calcium/ creatinine and N-telopeptid) among different VDR genotypes. No correlation was found between VDR polymorphisms and DEXA measurements of these patients. CONCLUSIONS: Although the FF genotype was found to be a risk factor in a Turkish population, elucidation of this result is necessary in other larger study groups drawn from the same ethnic population.

Lung re-expansion and urinary lipid peroxidation in neonatal pneumothorax.

AIM: Experiential studies suggest that re-expansion of a collapsed lung may result in pulmonary ischaemia-reperfusion injury. We aimed to evaluate the effect of lung re-expansion on urinary lipid peroxidation products in neonates with pneumothorax. METHODS: This study included 20 mechanically ventilated neonates with pneumothorax, and 18 healthy neonates (controls). A chest tube was inserted immediately following the diagnosis of pneumothorax. Urine samples were obtained just before tube thoracostomy (first period), after one hour (second period), every 12 hours by complete reexpansion (third period). Vital signs and ventilatory parameters were recorded. Urinary lipid peroxidation was evaluated by measurement of thiobarbituric acid-reacting substances (TBARS). RESULTS: No significant difference was found between urinary TBARS concentrations in the first, second and third periods (4.08 +/- 2.4 nmol/L, 2.8 +/- 2.3 nmol/L and 3.3 +/- 2.1 nmol/L, respectively). Control TBARS levels (4.1 +/- 2.1 nmol/L) did not significantly differ from those of the neonates with pneumothorax (p > 0.05). The neonates with pneumothorax had higher heart rates compared to the controls (p < 0.01). When compared with controls, the systolic pressure was lower in all periods (p < 0.01), and diastolic blood pressure was lower only in the first and second period (p < 0.05). Oxygen saturation significantly decreased in the first period compared to saturation of the second period and of controls (p < 0.01). Ventilatory parameters did not show any significant difference between the periods. CONCLUSIONS: This prospective study showed that re-expansion of the lung did not significantly affect urinary TBARS concentration in neonatal pneumothorax. Indirectly, short-term lung collapse followed by re-expansion might not cause a clinically significant reperfusion injury in newborns.

Metabolic control and educational status in children with type 1 diabetes: effects of a summer camp and intensive insulin treatment.

Our aim was to evaluate prospectively, in our diabetic patients, the impacts of a summer camp and intensive insulin treatment (IIT) on both metabolic control and disease-related educational level. Twenty-five patients participated in a 7-day-long summer camp. Before the camp, all patients were on therapy with short-acting human insulin (SAI) and intermediate-acting insulin (IAI) twice daily. On arrival, their insulin therapy regimen was changed by IIT including either SAI or rapid-acting insulin analogue (RAI) three times before meals supplemented by IAI at bedtime. Following the camp, all participants were given IIT with RAI plus IAI. Frequency of hypoglycaemia, insulin dose, body mass index (BMI) and glycohaemoglobin (HbA1c) levels were assessed at pre-camp and post-camp controls. To evaluate the effectiveness of camp-assisted education, all participants were regularly tested. We observed significant elevations in total daily dose of insulin and BMI at months 3 and 6 when compared with the pre-camp values but, by month 12, they were not significantly different from precamp values. The mean HbA(1c) level decreased significantly at months 6 and 12. Severe hypoglycaemic episodes and ketoacidosis were not detected during the camp and the following year. Significant improvements in knowledge about diabetes and self-management were determined at the end of the camp, after 6 and 12 months. Camp-assisted IIT with RAI improved metabolic control of diabetic children. Additionally, camp-assisted education has a positive effect on disease-related educational level and self-management.

Two siblings with total colonic aganglionosis extended to the ileum. Treatment with a modified Duhamel-Martin procedure.

UNLABELLED: Total colonic aganglionosis (TCA) extended to the ileum is seen quite rare among infants with Hirschsprung's disease. Type and timing of definitive surgery in these patients are controversial. This report was presented to discuss the management of two siblings with TCA. Case 1: A two-day-day-old girl was operated for partial intestinal obstruction. During laparotomy, serial frozen biopsies proved TCA extended to the terminal ileum and a loop ileostomy was performed. At five months of age, a modified Duhamel-Martin procedure without protective ileostomy was performed. An endo-GIA stapler was transanally used for colo-ileal anastomosis. She is doing well for the last five years. Case 2: A one-day-old boy admitted to the hospital with similar findings to his sister. Frozen biopsies during first laparotomy proved that majority of ileum and entire colon was aganglionic and a proximal ileostomy was performed. At 10 months of age, he underwent a similar Duhamel-Martin operation. He is in a good condition for the last four years. CONCLUSION: In infants, our modification on Duhamel-Martin procedure, which is based on the use of an endo-GIA stapler transanally for colo-ileal anastomosis without protective ileostomy, may be utilized as an alternative method in the definitive treatment of patients with TCA.

A case of intestinal obstruction due to phytobezoar--an alternative surgical approach.

We report a 5-year-old patient with phytobezoar mimicking acute appendicitis preoperatively. During laparotomy, it was detected that terminal ileum was obstructed by several fragments of rubbery material. Bezoar was milked into the large bowel, and phytobezoar including tangerine residues was evacuated via appendix stump because of severe distended cecum, and high risk of the anastomotic leakage and intraperitoneal contamination following enterotomy of the inflamated and ischemic ileum. Postoperative course was uneventful. To date, such a procedure has not been described. We suggest that milking of vegetable fibers into the cecum and then emptying via appendix stump may be an alternative treatment of phytobezoar localizing in terminal ileum.

Persistent hyperinsulinaemic hypoglycaemia of infancy: case report.

Hyperinsulinism, although rare, is the most common cause of persistent hyperinsulinaemic hypoglycaemia in infancy. Because of persistent hypoglycaemia, serious difficulties are encountered in the long term management of this condition. A male neonate, after an uncomplicated full-term pregnancy, had been admitted to another hospital with convulsions on the third post-natal day. Meningitis had been suspected at that time and treated with phenobarbital and he had been discharged from the hospital. At three-months old he was referred to our department for persistent convulsions and lethargy. His parents were of 1st degree consanguinity. His blood glucose level was found to be 24 mg/dl (1.33 mmol/L). Because of the dangerously high insulin level during hypoglycaemia (insulin/glucose > 0.3), the absence of ketonuria, and the need for a high dose of glucose infusion (> 15 mg/kg/min) to achieve normoglycaemia and a glycaemic response to glucagon despite the hypoglycaemia, a diagnosis of persistent hyperinsulinaemic hypoglycaemia of infancy was made. Since maximal doses of prednisone, glucagon, diazoxide, octreotide and high infusion of glucose were ineffective in achieving normoglycaemia, a subtotal (80%) pancreatectomy was done. Postoperatively intermittent hypoglycaemic episodes continued. These were controlled with low doses of octreotide. Histology revealed diffuse adenomatous hyperplasia (nesidoblastosis). The boy is now in the sixth post-operative month and developing normally.

Pentoxifylline contributes to the hepatic cytoprotective process in rats undergoing hepatic ischemia and reperfusion injury.

AIM: Considerable efforts have been made to find and/or eliminate the underyling causes of hepatic ischemia-reperfusion injury, but many points are still unclear. Pentoxifylline-related cytoprotection is one of these unclear points. Our study tests the effects of pentoxifylline on the hepatic cytoprotective process in an experimental model. MATERIALS AND METHODS: The animals were divided into two groups: (1) placebo-pretreated rats and (2) pentoxifylline-pretreated rats. After pretreatment, all rats underwent the hepatic ischemia-reperfusion procedure which was performed by clamping the hepatoduodenal ligament. To evaluate the liver injury, serum levels of alanine transaminase (ALT) and aspartate transaminase (AST), and liver tissue levels of prostaglandin E(2) (PGE(2)) were measured before ischemia, immediately after ischemia and immediately after reperfusion. RESULTS: Before ischemia and immediately after ischemia, there were no significant differences between ALT and AST levels of groups 1 and 2 (p >0.05). However, at the end of reperfusion, ALT and AST levels of group 2 were significantly decreased when compared with group 1 (p < 0.05 and p < 0.01, respectively). Additionally, tissue levels of PGE(2) that were obtained before ischemia, immediately after ischemia and immediately after reperfusion in group 2 were significantly higher than those of group 1 (p < 0.001). CONCLUSION: Pentoxifylline reduces reperfusion injury of the liver through significantly decreased transaminase levels, and contributes to hepatic cytoprotection by increasing tissue levels of PGE(2) significantly. These effects reflect the role of tissue PGE(2) in pentoxifylline-related hepatoprotection against ischemia-reperfusion injury of the liver.

Prophylactic ranitidine in experimental fetal distress: acute phase effects on the fetal stomach.

Fetal distress (FD) adversely affects fetal gastric physiology and histology, increasing gastric acid secretion and disturbing gastric protective mechanism. Considering these findings, an experimental study was planned to test whether ranitidine prevents FD-related gastric physiological and histological changes during late gestational period. In this study, a rabbit model of FD was created by way of intermittent maternal aortic occlusion. In group 1 (SC), saline treated animals underwent control operation. In group 2 (SD), FD was created in saline treated animals. In group 3 (RC), ranitidine treated animals underwent control operation. In group 4 (RD), FD was created in ranitidine treated animals. Blood lactic acid levels of the fetuses were 2.3 +/- 1.0 mg/L in SC group and 4.7 +/- 1.8 mg/L in group SD (p < 0.01); 2.5 +/- 0.9 mg/L in group RC and 6.7 +/- 2.5 mg/L in group RD (p < 0.01). Fetal gastric acid secretion was 5.94 +/- 2.13 microEq/h in group SC and 8.26 +/- 2.24 microEq/h in group SD (p < 0.05); 6.63 +/- 2.3 microEq/h in group RC and 6.04 +/- 2.43 microEq/h in group RD (p < 0.05). Fetal gastric PGE2 level was 16.4 +/- 2.65 microg/g-wet weight in group SC and 7.62 +/- 1.86 microg/g-wet weight in group SD (p < 0.01); 15.6 +/- 2.61 microg/g-wet weight in group RC and 8.44 +/- 1.44 microg/g-wet weight in group RD (p < 0.01). In addition, histopathological examination showed normal gastric structure in groups SC and RC, but there were mild erosive and hemorrhagic changes in groups SD and RD. Because prophylactic ranitidine significantly decreased gastric acid secretion, but did not prevent harmful histopathologic effects in FD, it is suggested that gastric damage cannot be avoided by decreasing gastric acid secretion alone. However PGE2 analogs with or without H2 receptor blockers may have a potential role to prevent FD-related gastric damage.

An uncommon association relating to cloacal maldevelopment: bladder agenesis, anorectal atresia, and absence of vulva, vagina, and uterus.

The authors report on a newborn girl with complex urogenital and hindgut abnormalities. Urogenital anomalies consisted of absence of vulva and vagina, uterine and urethral atresias, bladder agenesis with ectopic ureteric opening, and bilateral pelvic ectopic kidneys. In addition, the baby had anorectal atresia without fistula as a hindgut anomaly. Herein, clinical evaluation and embryological review are made to explain the concomitant occurrence of these rare malformations.

High dose methylprednisolone therapy in nephrotic syndrome.

This study was done to determine the efficacy of oral high dose methylprednisolone (HDMP) therapy in the treatment of childhood nephrotic syndrome (NS). Fifteen patients were enrolled in the study. Patients were arbitrarily divided into two groups. Group I received prednisolone (daily 60 mg/m2 for 4 weeks, 45, 30, 20, 10, 5 mg/m2 on alternate days for 4 weeks) and group II received HDMP (30 mg/kg/d for 3 days, 20 mg/kg/d for 4 days, 10 mg/kg/ for a week, before 9 am, orally). The patients were followed-up for a duration of 38.0 +/- 5.5 months (range 24-68 months) in group I and 42.1 +/- 5.5 months (range 16-72 months) in group II. No significant difference was obtained in the duration of remission between both groups (p > 0.05), while HDMP induced early remission than prednisolone (p < 0.05). The mean relapse rate was 0.8/year in group I and 0.8/year in group II (p > 0.05). Although, the number of the patients were limited in the study it can be recommended that patients with NS can be treated with oral HDMP therapy as an alternative to standard oral prednisolone therapy.

Short-term effects of budesonide, nedocromil sodium and salmeterol on bronchial hyperresponsiveness in childhood asthma.

BACKGROUND: The effects of budesonide, nedocromil sodium and salmeterol on bronchial hyperresponsiveness were determined over a period of 3 weeks. METHODS: Forty-three asymptomatic children (22 male, 21 female, aged 7-17 years) with mild-to-moderate asthma were evaluated. The study was placebo-controlled and double-blind. At the beginning the forced expiratory volume in 1 second (FEV1) was measured and a methacholine challenge was performed to determine PC20 (provocative concentration of inhaled methacholine required to reduce FEV1 by 20%). The patients in group I (n = 12), group II (n = 10), group III (n = 11), and group IV (n = 10) inhaled 200 micrograms of budesonide, 2 mg of nedocromil sodium, 25 micrograms of salmeterol and a placebo, respectively, twice a day over the period of 3 weeks. Then the methacholine PC20 values of all patients were measured again and the results were compared statistically with their previous values. RESULTS: The statistical data revealed that the methacholine doses in PC20 before and after treatment were different in group I (P < 0.01). However, these differences were not statistically significant in the other groups (P > 0.05). CONCLUSIONS: The short term usage of budesonide decreases bronchial hyperresponsiveness, but nedocromil sodium and salmeterol in the given dises do not affect bronchial hyperresponsiveness.

Persistent diffuse peritonitis in children.

In adults, persistent diffuse peritonitis (PDP) having a special microbiologic spectrum is now defined as a distinct intraabdominal infection because of its aggressive clinical course. Considering also other types of peritonitis, this study was performed to determine characteristics of childhood PDP in regard to clinical picture, microbiologic features, treatment and outcome. Classification of 175 patients with peritonitis showed that nine patients had primary peritonitis and 121, 37 and eight patients had secondary peritonitis, PDP, and intraabdominal abscess, respectively. Rates of host defense affecting disease, extra-appendicular origin, and mortality were markedly higher in the PDP group. However, polymicrobic and anaerobic infection rates were lower in the PDP group than those of the secondary peritonitis group. While 26 of 37 patients with PDP underwent surgical intervention, the remaining 11 patients were managed by conservative measures. In the PDP group, mortality was 18 percent for conservatively and 23 percent for surgically treated patients. Being of young age, presence of an accompanying disease and fungal growth increased the mortality. The results indicate that PDP is a distinct type of peritonitis in children as well as in adults. In addition, accurate identification of these patients may prevent some unnecessary operations and improve survival by the choice of more conservative treatment plans.

Acute bronchodilatory effect of salmeterol on methacholine-induced bronchoconstriction in childhood asthma.

A review of the literature highlights the need for research, particularly on the acute bronchodilatory effect of salmeterol on bronchoconstriction in the pediatric age group. The present study attempted to evaluate the acute bronchodilatory effect of salmeterol on methacholine-induced bronchoconstriction in childhood asthma and to compare it with the effect of salbutamol. Forty-four asymptomatic children with mild-to-moderate asthma (23 boys and 21 girls; aged 7-17 years) were studied. At the beginning, the baseline forced expiratory volume in 1 s (FEV1) was measured, and the methacholine challenge was performed by doubling the dose to determine PC20 (provocative concentration of inhaled methacholine required to reduce FEV1 by 20%). At the same time, the transcutaneous arterial oxygen saturation (SaO2) was also measured. Each subject inhaled a single dose of 25 micrograms salmeterol (n: 23, group I) or 100 micrograms salbutamol (n: 21, group II) following the SaO2 measurement. The same measurements (FEV1, SaO2) were repeated 5 and 20 min after the inhalation. After inhalation of salmeterol or salbutamol, the differences between the values of FEV1 and SaO2 after 5 and 20 min were insignificant in both group I and group II (P > 0.05), although there was a significant improvement in both FEV1 and SaO2 after 5 and 20 min (P < 0.005). From these findings it was concluded that salmeterol can be considered as effective as salbutamol on methacholine-induced bronchoconstriction.

A gastroschisis-like abdominal wall defect in the left hypochondrium. Case report and literature review.

Congenital abdominal wall defects are exceedingly rare on the left side. The presented patient had an upper abdominal wall defect located just lateral to the left rectus muscle. Additionally, upper parts of the abdominal flat muscles were defective on that side. Because no report was found in the literature about the defect described here, both its terminological and embryological backgrounds are discussed.

Acute physiopathological and histopathological effects of fetal distress on the fetal stomach: an experimental study.

Although effects of stress on the stomach have been extensively investigated in children and adults, our knowledge about effects of fetal distress (FD) on the fetal stomach is quite limited. Therefore, an experimental study was planned to evaluate the effects of FD on fetal gastric physiology and histology. In this study, a model of FD was created by way of intermittent maternal aortic occlusion in pregnant rabbits. In total, 21 fetuses of 6 pregnant rabbits were available for surgical and laboratory procedures. Laboratory examinations showed that (1) fetal gastric acid secretion was 4.24 +/- 2.68 muEq/h in the control group and 18.08 +/- 6.34 muEq/h in the distress group (p < 0.01) and (2) fetal gastric PGE2 level was 16.59 +/- 6.15 mg/g wet weight in the control group and 9.86 +/- 3.46 mg/g wet weight in the distress group (p < 0.05). Histopathologically, there were mild hemorrhagic and errosive changes in the distressed fetuses, but not in control fetuses. These findings support that FD adversely affects fetal gastric physiology through two mechanisms consisting of increased gastric acid secretion and decreased fetal gastric protection in rabbits. Consequently, gastric injury should be noted as a potential problem among hypoxia-associated abnormalities encountered in the distressed fetus.