Severe renal tubulopathy in a newborn due to BCS1L gene mutation: effects of different treatment modalities on the clinical course.

Very early onset Toni-Debré-Fanconi Syndrome, a disorder of proximal renal tubules of the kidney which results in the increased urinary excretion of glucose, amino acids, uric acid, phosphate and bicarbonate, could be the manifestation of various inborn errors. Defects of oxidative phosphorylation are a heterogeneous group of disorders with various clinical presentations. Recently, patients with early liver failure, renal tubulopathy and encephalopathy due to the mutations in the BCS1L gene coding for a structural protein in mitochondrial complex III have been described.

Life-threatening intracranial bleeding in a newborn with congenital cytomegalovirus infection: late-onset neonatal hemorrhagic disease.

The authors present a case of a 36-day-old infant with intracranial and intramuscular hemorrhage due to vitamin K deficiency bleeding, who received intramuscular vitamin K prophylaxis at birth. In this case, laboratory tests showed anemia, liver dysfunction with cholestasis, and coagulopathy, consistent with vitamin K deficiency abnormality. Serological analyses showed that cytomegalovirus immunoglobulin (Ig)M and IgG avidity were both positive.

An unusual cause of hemoptysis in a child: live leech in the posterior pharynx.

An 8-year-old girl was admitted to the emergency department with hemoptysis. Her history revealed that she had been drinking unfiltered tap water several days before. Physical examination revealed a black live foreign object in the pharynx with local posterior pharyngeal oozing.

Establishment of interdisciplinary child protection teams in Turkey 2002-2006: identifying the strongest link can make a difference!

Objectives: The University of Iowa Child Protection Program collaborated with Turkish professionals to develop a training program on child abuse and neglect during 2002-2006 with the goals of increasing professional awareness and number of multidisciplinary teams (MDT), regional collaborations, and assessed cases. This paper summarizes the 5-year outcome.

Methods: A team of instructors evaluated needs and held training activities in Turkey annually, and provided consultation when needed.

Debridement via collagenase application in two neonates.

Slow-healing wounds contain insufficient amounts of intrinsic collagenases to provide sufficient wound debridement, so that the use of products containing synergistic collagenases and proteases may be helpful. We report the successful use of collagenase clostridipeptidase A in two newborns, a premature infant with 3rd degree burns, and a term neonate with an extravasation necrosis caused by calcium gluconate. Surgical excision of necrotic tissue is a serious intervention and prolongs the duration of hospitalization.

Inflammatory pseudotumor of the sigmoid colon mesentery: US and CT findings (2004:12b).

The concept of inflammatory pseudotumor has evolved from meticulous pathological studies; some of its histological features resemble a spindle-cell sarcoma. Despite the fact that it usually affects children and young adults, only limited numbers of childhood cases have been reported in the pediatric literature. Recognition of this rare entity is important because the clinical manifestations and radiological features may be indistinguishable from a malignant lymphoproliferative disorder.

The probiotic effect of Saccharomyces boulardii in a pediatric age group.

The aim of this study was to determine the efficacy of S. boulardii in diarrhea associated with commonly used antibiotics such as sulbactam-ampicillin (SAM) and azithromycin (AZT). Four hundred and sixty-six patients were assigned to four different groups as follows: group 1:117 patients receiving SAM alone; group 2:117 patients receiving SAM and S.

Neuron-specific enolase levels and neuroimaging in asphyxiated term newborns.

The study was designed to investigate the cerebrospinal fluid and serum levels of neuron-specific enolase, along with cranial ultrasonography, magnetic resonance imaging (MRI), and electroencephalography (EEG), for predicting the clinical state and neurologic outcome of 26 asphyxiated term newborns. The babies were graded according to the Sarnat and Sarnat classification. Cerebrospinal fluid neuron-specific enolase levels of the 18 babies in the whole hypoxic-ischemic encephalopathy group were higher than the 8 babies in the "no encephalopathy" group.