Efficacy and safety of Saccharomyces boulardii in amebiasis-associated diarrhea in children

The efficacy and safety of adding Saccharomyces boulardii to antibiotic treatment for amebiasis-associated acute diarrhea in children were assessed in this study. Forty-five children in Group I received only metronidazole per oral for 10 days while 40 patients in Group II received S. boulardii in addition to the same medication. The major outcomes investigated were duration of acute and bloody diarrhea, frequency and consistency of stools, resolution time of the symptoms, and the tolerance and side effects of the treatment regimens. The median duration of acute diarrhea was 5 (1-10) days in Group I and 4.5 (1-10) days in Group II (p=0.965). The median number of stools on follow-up and duration of bloody diarrhea, fever, abdominal pain and vomiting were similar in the two groups. S. boulardii was well tolerated by the children and no side effects were recorded. Addition of S. boulardii to antibiotic treatment of amebiasis-associated acute diarrhea in children does not seem to be more effective than metronidazole treatment alone

Low hemoglobin A1c levels in a patient with diabetic ketoacidosis: Fulminant type 1 diabetes mellitus

Fulminant type 1 diabetes mellitus (FT1DM) is a clinical condition that is characterized by remarkably rapid and complete pancreatic β-cell destruction, rapid onset of hyperglycemic symptoms followed by ketoacidosis. In most cases this process takes a few days. Although rare, there have been clinical manifestations with a prolonged progress that lasts longer than one week. This study focused on the case of a 35-monthold boy who was referred to our clinic with the diagnosis of diabetic ketoacidosis, and later had a modest elevation in hemoglobin A1c (HbA1c) levels (6.7 %) incompatible with his significantly elevated blood glucose levels. The autoantibodies against pancreatic β-cells were negative. On the basis of these above mentioned findings, our patient was then diagnosed with fulminant type 1 diabetes mellitus. If patients with diabetic ketoacidosis have no elevation in HbA1c levels, they should be assessed for possible clinical factors that can lead to lower detectable levels of HbA1c. Furthermore, FT1DM which is characterized by very rapid and potentially fatal progression should be considered as a differential diagnosis in these patients

The effect of 2000 ıu/day vitamin D supplementation on insulin resistance and cardiovascular risk parameters in vitamin D deficient obese adolescents

The aim of this study was to determine the vitamin D deficiency prevalence in obese adolescents and to investigate the effect of vitamin D supplementation on insulin resistance and cardiovascular risk parameters in obese adolescents with vitamin D deficiency. Ninety-six obese adolescents aged 10-18 years were divided in 2 groups according to their vitamin D levels: Deficient group ( < 12ng/ ml) and sufficient group (≥12ng/ml). All patients in the vitamin D deficiency group were recommended 2000IU/day vitamin D supplementation. Fifty four (56.3%) patients had vitamin D deficiency. The only difference between the two groups was PTH level which was higher in the vitamin D deficiency group. Vitamin D reached sufficient levels in 22 (95.6%) out of the 23 patients with the 3 month supplementation of 2000 IU/day vitamin D. There was a significant decrease in weight Standard Deviation Score (SDS), Body Mass Index (BMI) SDS, hip circumference, total cholesterol, LDL, HbA1c, AST, PTH and interleukin-6 while no significant change was seen in measurements of glucose, insulin, HOMA-IR, C-peptide and the rate of metabolic syndrome. There were decreases in levels of total cholesterol and LDL with vitamin D treatment, while there was no significant change in insulin resistance. Vitamin D reduced interleukin-6 levels by its antiinflammatory effect

A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome

Fanconi-Bickel syndrome is a rare inherited disorder of carbohydrate metabolism. The disease is characterized by the association of a massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets and marked growth retardation due to proximal renal tubular dysfunction. Fanconi-Bickel syndrome is a single gene disease and is caused by defects in the facilitative glucose transporter 2 (GLUT2) gene (SLC2A2) on chromosome 3q26.1-26.3, which encodes for the glucose transporter protein 2 expressed in hepatocytes, pancreatic beta-cells, enterocytes, and renal tubular cells. Several mutations in a gene encoding a glucose transporter have been reported in patients with Fanconi-Bickel syndrome. Here we report a Turkish child who had a novel mutation that has not been described before and we discuss the knowledge regarding genetic mutations in this rare disease

Two Siblings with Isolated GH Deficiency Due to Loss−of−Function Mutation in the GHRHR Gene: Successful Treatment with Growth Hormone Despite Late Admission and Severe Growth Retardation

Patients with growth hormone releasing hormone receptor (GHRHR) mutations exhibit pronounced dwarfism and are phenotypically and biochemically indistinguishable from other forms of isolated growth hormone deficiency (IGHD). We presented here two siblings with clinical findings of IGHD due to a nonsense mutation in the GHRHR gene who reached their target height in spite of late GH treatment. Two female siblings were admitted to our clinic with severe short stature at the age of 13.8 (patient 1) and 14.8 years (patient 2). On admission, height in patient 1 was 107 cm (−8.6 SD) and 117 cm (−6.7 SD) in patient 2. Bone age was delayed in both patients (6 years and 9 years). Clinical and biochemical analyses revealed a diagnosis of complete IGHD (peak GH levels on stimulation test was 0.06 ng/mL in patient 1 and 0.16 ng/mL in patient 2). Patients were given recombinant human GH treatment. Genetic analysis of the GH and GHRHR genes revealed that both patientscarried the GHRHR gene mutation p.Glu72X (c.214 G>T) in exon 3 in homozygous (or hemizygous) state. After seven years of GH treatment, the patients reached a final height appropriate for their target height. Final height was 151 cm (−1.5 SD) in patient 1 and 153 cm (−1.2 SD) in patient 2. In conclusion, genetic analysis is indicated in IGHD patients with severe growth failure and a positive family history. In spite of the very late diagnosis in these two patients who presented with severe growth deficit due to homozygous loss−of−function mutations in GHRHR, their final heights reached the target height

Pituitary hyperplasia mimicking pituitary macroadenoma in two adolescent patients with long-standing primary hypothyroidism: case reports and review of literature

We report two cases with primary autoimmune hypothyroidism and an ectopic thyroid gland causing pituitary enlargement mimicking pituitary macroadenoma. One of the cases presented with complaints of headache and short stature and the other case with a complaint of menorrhagia. In both cases, the pituitary mass and symptoms resolved with levothyroxine replacement. Normal menses resumed. However, pituitary dynamic tests revealed persistent growth hormone and gonadotropin deficiency in one case and growth hormone deficiency in the other. To our knowledge, this is the first report in an adolescent of hypogonadotropic hypogonadism, growth hormone deficiency, and menorrhagia associated with pituitary hyperplasia secondary to primary hypothyroidism. The recognition of the association between reversible pituitary hyperplasia and primary hypothyroidism might eliminate unnecessary surgery

A Myasthenia Gravis Case Diagnosed Simultaneously with Diabetic Ketoacidosis

Juvenile myasthenia gravis (JMG) is an autoimmune disease caused by antibodies affecting the postsynaptic membrane at the neuromuscular junction. The association of JMG with Type I diabetes mellitus (DM), another autoimmune disease, is very rare and the pathogenesis has not been fully explained. Our case is the youngest patient where this association has been reported in the literature and presented at the age of 4 years when diabetic ketoacidosis developed together with the emergence of ocular myasthenia findings. She is the only case diagnosed with JMG among the 510 Type I DM patients followed-up at our clinic. Although an autoimmune process may have triggered both autoimmune diseases at the same time in this case, we believe the diabetic ketoacidosis was a triggering factor for the JMG and discuss this association

Efficiency of Fluid Treatments with Different Sodium Concentration in Children with Type 1 Diabetic Ketoacidosis

Objective: The management of children with diabetic ketoacidosis (DKA) continues to be a controversial issue with regard to amount of intravenous fluid to be given, rate of delivery of fluid, and type of fluid to be used. We aimed to analyze the results obtained by administration of rehydration fluids of two different sodium (Na) concentrations (75 mEq/L vs. 100 mEq/L ) in the treatment of children with DKA

Synchronous Occurrence of Papillary Carcinoma in the Thyroid Gland and Thyroglossal Duct in an Adolescent with Congenital Hypothyroidism

Thyroid carcinoma (TC) combined with congenital hypothyroidism is rare. The synchronous occurrence of these two conditions is even rarer. We describe a patient with congenital hypothyroidism in whom hyperthyroglobulinemia and nodules developed despite adequate replacement therapy. Papillary TC was detected at age 19 years. Postoperative diagnostic scintigraphy showed increased uptake in the thyroglossal duct region. Repetitive imaging of the thyroid gland can be useful in the early detection of TC in patients with congenital hypothyroidism. Moreover, this rare situation can be complicated by a synchronous thyroglossal duct carcinoma. Thyroglossal duct carcinoma can be detected if diagnostic scintigraphy is performed after total thyroidectomy

Case Report: Two Patients with Partial DiGeorge Syndrome Presenting with Attention Disorder and Learning Difficulties

DiGeorge syndrome (DGS) has classically been characterized by the triad of clinical features including congenital cardiac defects, immune deficiencies secondary to aplasia or hypoplasia of the thymus, and hypocalcaemia due to small or absent parathyroid glands. The phenotypic features of these patients are much more variable and extensive than previously ecognized. The acknowledgement of similarities and phenotypic overlap of DGS with other disorders associated with genetic defects in 22q11 has led to an expanded description of the phenotypic features of DGS including palatal/speech abnormalities, as well as cognitive, neurological and psychiatric disorders. Here, we report the cases of two DGS patients with dysmorphic facial features who were initially admitted to the Psychiatry Department for attention disorder and learning difficulties