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Toplam kayıt 93, listelenen: 61-70
A Patient Heterozygous for R92Q Mutation with Periodic Fever and Aphthous Stomatitis, Pharyngitis, and Adenitis (Pfapa) Syndrome-Like Phenotype
(Turkish J Pediatrics, 2018)
Tumor necrosis factor receptor associated periodic syndrome (TRAPS) is an autosomal dominant disease caused by mutations located on the type 1 tumor necrosis factor receptor (TNFRSF1A) gene. Here we present a 3-year-old ...
A Pheochromocytoma Case Diagnosed As Adrenal Incidentaloma
(Turkish J Pediatrics, 2017)
There are two problems that needs to be addressed in cases of an adrenal incidentaloma. The first is to decide whether the adrenal mass is benign or malignant, and the second is to determine whether the mass is hormonally ...
Pulmonary Mycobacterium Abscessus Infection in A Patient with Triple A Syndrome
(Oxford Univ Press, 2016)
Gastroesophageal disorders such as achalasia can be associated with pulmonary disorders because of non-tuberculous mycobacteria, frequently masquerading as aspiration pneumonia. The optimal therapeutic regimen and duration ...
Pulmonary Thromboendarterectomy in Pediatric Patients: Report of Three Cases
(Turkish J Pediatrics, 2018)
Chronic thromboembolic pulmonary hypertension (CTEPH), which occurs due to impartial resolution of the pulmonary thrombus, is a rare type of pulmonary hypertension. However, most patients have an excellent long-term survival ...
Respiratory-Chain Deficiency Presenting As Diffuse Mesangial Sclerosis with Nphs3 Mutation
(Springer, 2011)
Renal manifestations of mitochondrial cytopathies have been described, but nephrotic syndrome with respiratory-chain disorders have been described extremely rarely. We report a 9-month-old boy with a mitochondrial cytopathy ...
The Significance Of Antineutrophil Cytoplasmic Antibody In Microscopic Polyangitis And Classic Polyarteritis Nodosa
(British Med Journal Publ Group, 2001)
Aims-To describe the distribution and features of classic polyarteritis nodosa (PAN) and microscopic polyarteritis (MPA) and the importance of antineutrophil cytoplasmic antibody (ANCA) in childhood PAN. Methods-Classic ...
The Seizure Semiology Consistent With Frontal Lobe Symptomatogenic Zone In Children
(Turkish J Pediatrics, 2016)
The aim of this study is to analyze the seizure semiology consistent with frontal lobe symptomatogenic zone in childhood. We analyzed 549 videotaped seizures from 79 patients (mean age 9.9 +/- 3.8 years). Magnetic resonance ...
Lactobacillus Reuteri Dsm 17938 Shortens Acute Infectious Diarrhea in a Pediatric Outpatient Setting
(Soc Brasil Pediatria, 2015)
Objective: Two randomized controlled clinical trials have shown that Lactobacillus (L) reuteri DSM 17938 reduces the duration of diarrhea in children hospitalized due to acute infectious diarrhea. This was the first trial ...
Long Term Azithromycin Therapy in Patients with Cystic Fibrosis
(Turkish J Pediatrics, 2016)
Inflammation is a central contributor to the pathogenesis of cystic fibrosis (CF) pulmonary disease; so limiting the excessive production of inflammatory mediators represents a major therapeutic strategy for slowing the ...
Mutations In The Wilms' Tumor 1 Gene Cause Isolated Steroid Resistant Nephrotic Syndrome And Occur In Exons 8 And 9
(Nature Publishing Group, 2006)
Primary steroid-resistant nephrotic syndrome (SRNS) is characterized by childhood onset of proteinuria and progression to end-stage renal disease. Approximately 10-25% of familial and sporadic cases are caused by mutations ...