Keutel syndrome (KS) [OMIM 245150] is an autosomal recessive hereditary syndrome characterized by multiple peripheral pulmonary stenoses (PPS), brachytelephalangia, inner ear deafness, and abnormal cartilage ossification or calcification. Mutations in the matrix Gla protein (MGP) gene have been reported in different unrelated families with KS previously. MGP is an extracellular matrix protein and calcification inhibitor; mutations in its encoding gene result in cartilage ossification or calcification, the main presenting feature of KS. This report describes the findings of four sisters with KS born to consanguineous parents were followed for 26 years in an irregular fashion. During follow-up of the patients over the years the complications appear to be mostly involving the respiratory system. Permanent skin rashes, papillary microcarcinoma of the thyroid, asthma, massive bullous pulmonary emphysema, severe systemic arterial hypertension, and short term memory loss were observed during long term follow-up. The fertility status of the patients were also observed and infertility was observed in one of three married patients.
We report four new cases of Keutel syndrome. Clinical manifestation included abnormal cartilage ossification, multiple peripheral pulmonary stenosis (PPS), brachytelephalangism, subnormal IQ, repeated respiratory infections, otitis media and hearing loss. All four children have a typical facial appearance and are of consanguineous parents. Father and the fifth offspring exhibit a normal phenotype; the mother has pulmonary stenosis. This observation confirms Keutel syndrome as a distinct autosomal recessive syndrome.
Raoultella ornithinolytica is a gram negative aerobic bacillus belonging in the family Enterobacteriaceae that is a known but extremely rare pathogen which causes infections in humans. We report on a newborn with urinary tract infection caused by Raoultella ornithinolytica. The present case is the first newborn patient with urinary tract infection and only the third newborn found infected with Raoultella ornithinolytica reported in the literature.
BackgroundAsthma is the most common cause of respiratory disorders among children. We aimed to investigate left (LV) and right (RV) ventricular function in asthmatic children as detected by conventional and tissue Doppler echocardiography.MethodsFifty pediatric patients with asthma and forty healthy children were studied. Pulmonary function tests, electrocardiography and echocardiographic examinations were performed on all children.ResultsRate-corrected velocity of circumferential fiber shortening (VCFc) (p = 0.044), the ratio between heights of early and late diastolic flow velocity peaks (E/A) (p = 0.019) and LV end-systolic wall stress (ESWSm) was lower (p = 0.003), RV stroke volume (SV) (p = 0.002), LV SV (p = 0.001), tricuspid annular plane systolic excursion (TAPSE) (p = 0.034), tricuspid annular peak velocity during systole (S’) (p = 0.022), tricuspid and mitral early diastolic velocities (E’) (p = 0.012, p = 0.003 respectively) were lower in asthmatic children than controls. The mitral valve ejection time (ET) was high in asthmatic group (p = 0.027).FEV1 was positively correlated with isovolumetric relaxation time (IVRT) (p = 0.018) (r = 0.382) and mitral ET (p = 0.018) (r = 0.381). PEF was negatively correlated with the RV work index (p = 0.032) (r = -0.348) and LV work index (p = 0.005) (r = -0.457).ConclusionAlthough cardiac systolic function was found to be impaired in asthmatic patients, contrary to the literature, diastolic dysfunction was not observed in these patients, even by tissue Doppler imaging, and this finding may be attributed to using inhaled corticosteroid
BackgroundWe hypothesized that since asthma is a chronic inflammatory disease, it could lead to the early development of atherosclerosis in childhood-onset asthma. The aim of this study was to investigate arterial stiffness, distensibility, and strain of different peripheral arteries, the parameters of which can be used to detect atherosclerosis in asthmatic children.Material/MethodsWe studied 22 pediatric patients with asthma and 18 healthy children. Fasting blood glucose and cholesterol levels were evaluated to exclude children with diabetes and hyperlipidemia, which are risk factors for atherosclerosis. Renal, carotid, and brachial arteries diameters were measured. Using the measured data, stiffness, distensibility, and strain of the arteries of all children were calculated.ResultsPulse pressure, systolic and diastolic blood pressure, heart rate, cholesterols, and glucose levels of the obese individuals were similar to the controls. In carotid arteries there were no statistical differences regarding stiffness, distensibility, and strain. According to multiple ANCOVA analysis, distensibility and strain of right and left brachial arteries and right renal artery were higher, whereas right renal artery stiffness was lower in asthmatic children than in controls. Approximately one-fifth of the change in the left and right brachial arteries and right renal artery distensibility and strain and a small portion of the change in the right renal artery stiffness were associated with asthma. In contrast, left renal artery distensibility, strain, and stiffness were not associated with asthma.ConclusionsPeripheral arteries had higher distensibility and strain, and lower stiffness in asthmatic children than in controls.
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