Eur J Clin Microbiol Infect Dis
December 2024
Objective: Breastfeeding is the principal feeding source in the first years of life. Its targeted rates are not achieved properly, globally. Multifactorial reasons have been reported, but the effect of the facilities in the hospitals including lactation consultation clinics have rarely been discussed.
View Article and Find Full Text PDFJ Clin Res Pediatr Endocrinol
November 2023
Glucose 6 phosphate dehydrogenase (G6PD) is expressed in all tissues and is necessary to maintain oxidant stress capacity of cells. G6PD deficiency is the most common enzymopathy in humans and is among the important causes of hemolytic anemia. It has been reported that severe hemolytic anemia due to G6PD deficiency may develop in newly diagnosed diabetes, especially during the correction of hyperglycemia.
View Article and Find Full Text PDFBackground: Cerebroretinal microangiopathy with calcifications and cysts formerly known as Coats plus syndrome is a rare multisystemic autosomal recessive disease that affects the eyes, brain, bone, and gastrointestinal system. Intestinal telangiectasia are components of vascular malformations characterized by gastrointestinal system bleedings. Recurrent gastrointestinal system bleedings have been reported as being due to hepatic failure or vascular malformations of the gastrointestinal system tract.
View Article and Find Full Text PDFTIAM Rac1-associated GEF 1 (TIAM1) regulates RAC1 signaling pathways that affect the control of neuronal morphogenesis and neurite outgrowth by modulating the actin cytoskeletal network. To date, TIAM1 has not been associated with a Mendelian disorder. Here, we describe five individuals with bi-allelic TIAM1 missense variants who have developmental delay, intellectual disability, speech delay, and seizures.
View Article and Find Full Text PDFDisorders of intracellular trafficking are a group of inherited disorders, which often display multisystem phenotypes. Vacuolar protein sorting (VPS) subunit C, composed of VPS11, VPS18, VPS16, and VPS33A proteins, is involved in tethering of endosomes, lysosomes, and autophagosomes. Our group and others have previously described patients with a specific homozygous missense VPS33A variant, exhibiting a storage disease phenotype resembling mucopolysaccharidosis (MPS), termed "MPS-plus syndrome.
View Article and Find Full Text PDFJ Immigr Minor Health
February 2021
Refugee children are defined as an at-risk population as they have a high risk of physical and mental health conditions. While data exist regarding the mental health of refugee children, there are limited data about their medical health issues and mortality. Therefore, this study aimed to analyze the demographic data, clinical results, treatment/management data, and mortality data of hospitalized refugee children.
View Article and Find Full Text PDFHypomagnesemia is a rare cause of seizures in childhood but should be kept in mind in recurrent and intractable seizures and hypocalcemia in communities where consanguineous marriages are common. Familial hypomagnesemia with secondary hypocalcemia is a rare genetic cause of hypomagnesemia, due to variants in the 6 () genes. Here, a three year-old boy with a novel variant in this gene and had difficulties with enteral hypomagnesemia treatment is presented.
View Article and Find Full Text PDFPaediatr Int Child Health
August 2020
Isıyel E, Bakkaloğlu S, Oğuz D, Yenicesu İ, Boyunağa Ö, Özdemir Y, Damar Ç, Kandur Y, Akçaboy M, Aslan AT, Şişmanlar T, Hasanoğlan E, Buyan N. An adolescent case of extensive Behçet`s disease successfully treated with Infliximab. Turk J Pediatr 2019; 61: 585-588.
View Article and Find Full Text PDFKasapkara ÇS, Yılmaz-Keskin E, Özbay-Hoşnut F, Akçaboy M, Polat E, Olgaç A, Zorlu P. An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment. Turk J Pediatr 2019; 61: 282-285.
View Article and Find Full Text PDFChronic recurrent multifocal osteomyelitis is a rare autoinflammatory, immunologic disorder. It may involve recurrent inflammatory bone pain associated with aseptic osteomyelitis. If the diagnosis is delayed, it negatively influences quality of life by leading to persistent symptoms or joint damage.
View Article and Find Full Text PDFComplex regional pain syndrome is a condition of uncertain etiology characterized by spontaneous or stimulus-induced pain that is out of proportion to the inciting event. We report a 14-year-7-month-old girl with swelling of the left hand and wrist, was diagnosed as complex regional pain syndrome. The patient was treated successfully with physical therapy and non-steroidal anti-inflammatory drugs.
View Article and Find Full Text PDFThe aim of the presentation of this case is to discuss whether there is an association with eosinophilic granulomatosis with polyangiitis (EGPA) and the use of montelukast, and clarithromycin and to discuss a successful treatment course. A 4-year-old girl with a preceding history of asthma attacks and increased eosinophil counts was admitted. She had been using clarithromycin for five days and montelucast for a month.
View Article and Find Full Text PDFHemophagocytic lymphohistiocytosis (HLH) is a life-threatening syndrome of excessive immune activation. Secondary HLH syndrome develops as a complication of infection, drugs, rheumatologic conditions, or malignancy. The main objectives of this work were to identify the etiology of secondary HLH and prognostic factors associated with mortality.
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