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DOI 10.1055/s-00000034

Klinische Pädiatrie

In dieser Ausgabe:

Can Hematological Parameters be a Indicator Risk Factor in the Development of Retinopathy of Prematurity?

Background Hematological parameters have been investigated as being indicative of increased inflammatory response in morbidity of very preterm infants. This study aims to determine whether the hematologic parameters and ratios of preterms can be an indicative risk factor for the development of retinopathy of prematurity (ROP).

Materials-Methods This retrospective cohort study examined newborns born before 32 weeks. Twenty-three patients treated with the diagnosis of ROP were included in the patient...

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Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco

Background Tay-Sachs disease (TSD) is a rare autosomalrecessive genetic disorder characterized by progressive destruction of nerve cells in the brain and spinal cord. It is caused by genetic variations in the HEXA gene leading to a deficiency of β hexosaminidase A (HEXA) isoenzyme activity. This study aimed to identify causative gene variants in 3 unrelated consanguineous families presented with TSD from Pakistan and Morocco.

Methods Detailed clinical investigations were carried out on probands in ...

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Severe Complication of Diabetic Ketoacidosis and Metformin Intoxication: Bilateral Leg Amputation

Metformin is a biguanide oral hypoglycemic agent. It is used for the treatment of type 2 diabetes mellitus (T2DM ) Lactic acidosis and rhabdomyolysis is a known but rare adverse effect of metformin (Arali A et al., Bahrain Med Bull 2015; 37: 256–259).

High-dose metformin, may cause severe metabolic acidosis with hyperlactatemia and frequently has fatal outcomes (Arali A et al., Bahrain Med Bull 2015; 37: 256–259, Chu CK et al. J Chin Med Assoc 2003; 66 (8): 505–508).

Macrovascular and microvascula...

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Exome Analysis of a New Disease-causing Mutation in a Preterm Neonate with NP-C Disease

Niemann-Pick C disease (NP-C) is an ultra-rare, autosomal recessive, neurovisceral lysosomal lipid storage disorder (LSD) with impaired intracellular lipid trafficking, and an estimated incidence of approximately 1:/90.000 live births [Wassif CA et al. Genet Med 2016; 18(1): 41–48]. Disease severity in most patients is dependent on the degree of neurological involvement, but neurological abnormalities are typically preceded by systemic signs (i.e., cholestatic jaundice in the neonatal period or ...

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Progress and Barriers Towards Elimination of Chronic Hepatitis C in Children

Chronic hepatitis C (CHC) is a global health burden. Mother-to-child transmission (MTCT) accounts for most HCV infections in pediatric patients. Spontaneous viral clearance may occur in early childhood but is uncommon thereafter. Infection is usually asymptomatic during childhood, although without an effective treatment, vertically infected children may develop serious liver complications including cirrhosis and hepatocellular carcinoma in adulthood. Despite the lack of vaccine against hepatitis...

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Buchtipps Pädiatrie

Differenzialdiagnosen in der Kinder- und Jugendmedizin
Robert PloierDifferenzialdiagnosen in der Kinder- und Jugendmedizin

EUR [D] 49,99Inkl. gesetzl. MwSt.

Praktische Pneumologie in der Pädiatrie - Diagnostik
Matthias Griese, Thomas Nicolai, Robert Dalla, Christoph Döhlemann, Richard dePraktische Pneumologie in der Pädiatrie - Diagnostik

Rationale Differenzialdiagnostik

EUR [D] 27,99Inkl. gesetzl. MwSt.

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