Extrarenal Manifestations in Shigatoxin-associated Haemolytic Uremic Syndrome.

BACKGROUND: Shigatoxin-associated haemolytic uremic syndrome (STEC-HUS) is the most frequent cause of acute kidney injury in children worldwide. Extrarenal manifestations are the main determinants for both, short- and long-term prognosis of patients with STEC-HUS. PATIENTS: 46 patients treated over the last 10 years for STEC-HUS in a single center. METHODS: This retrospective study analysed the incidence and outcome of extrarenal manifestations in our cohort of children with STEC-HUS. Risk factors for extrarenal involvement and adverse outcome were assessed by detailed chart review. RESULTS: Eleven extrarenal manifestations occurred in 9/46 patients comprising 8 neurological, 2 gastro-intestinal, and 1 cardiovascular complication. One patient died from cerebral bleeding. Liver transplantation was required in a girl 18 months after HUS due to secondary sclerosing cholangitis. PATIENTS with extrarenal manifestations were significantly younger and presented with higher leucocyte counts and higher alanine aminotransferase levels at admission. Renal replacement therapy was necessary for a longer period than in patients without extrarenal complications. CONCLUSION: Extrarenal manifestations occurred in about 20% of our patients with STEC-HUS. The identification of risk-factors will help to provide a better management of these patients which might also include novel treatment strategies like complement inhibition.

Serotype diversity of Streptococcus mutans and caries activity in children in Argentina.

AIM: The purpose of this study was to analyse the serotype distribution of S. mutans and their association with caries activity in school children from Córdoba, Argentina. MATERIALS AND METHODS: Clinical examination was performed in 133 children. The dmft+DMFT and Significant Caries (SiC) indices were calculated to identify individuals with high caries activity. After DNA extractions of S. mutans strains, serotypes were determined by PCR amplifications. The median caries activity of each serotype group was compared using a non-parametric Kruskall-Wallis test. RESULTS: We obtained S. mutans strains from stimulated saliva of 94 children. The mean dmft+DMFT was 4.14 and the mean SiC index was 8.65. Serotype c was the most frequent (53.2%), followed by e (31.9%), f (8.5%) and k (6.4%). The comparison between the SiC and Non-Sic groups showed significant differences in the frequency of serotypes c and k. The median caries activity was non-significant in the different serotypes. CONCLUSION: The difference between the serotype frequencies detected in Argentina compared to those of other countries could be related with contrasting dietary habits. The results obtained in the present study would increase the knowledge about the epidemiology of dental caries in children from Argentina.

Angiotensin II receptor blocker induced fetopathy: 7 cases.

BACKGROUND: During a period of 12 months 7 newborns with a partially severe fetopathy caused most probably by maternal sartan-intake in pregnancy were treated in 5 German teaching hospitals. Sartans antagonize the effect of angiotensin II at the AT1-receptor and are used to treat arterial hypertension. METHOD: We presented 2 cases at the yearly GNPI meeting 2010 and we were informed about similar cases in other German teaching hospitals which we brought together in this publication. RESULTS: In the presented cases, maternal sartan intake was noticed at different times in pregnancy and was in part discontinued some weeks before delivery. In all pregnancies oligohydramnios was present and fetal kidneys displayed a hyperechogenic structure on ultrasound. The newborns' postnatal course varied: oligohydramnios sequence with lung hypoplasia, arterial hypotension and renal insufficiency were the predominant problems of the first days of life. The majority (4/7) of infants did not survive this period, in other cases there was a complete (1/7) recovery of renal function whereas others survived with renal impairment (2/7), in part requiring chronic dialysis. Further distinctive features seen frequently were disturbances of cranial ossification and flaccid paralysis of hands and feet with deviations as well as sensorineural hearing loss. CONCLUSION: These case reports again underline the hazardousness of maternal sartan intake with potential fatal outcome for the newborn. Though the use of sartans in pregnancy is contraindicated and several case reports of sartan induced fetopathies exist, the risk of sartan treatment generally seems to be underestimated.

[Occlusion of the left portal vein in newborns]. / Der linksseitige Pfortaderastverschluss des Neugeborenen.

PURPOSE: The occlusion of the left portal vein in newborn infants is shown and discussed in 14 cases. MATERIALS AND METHODS: The occlusion of the left portal vein in ten male and in four female newborn infants was diagnosed using ultrasound. Only one of the newborn infants was treated with an umbilical vessel catheter. In one case the occlusion of the left portal vein was suspected in an MRI. In the remaining 12 patients, the diagnosis was an incidental finding. RESULTS: Real-time ultrasound showed a hyperechogenic left portal vein without receiving a signal in duplex sonography in thirteen patients. A partly obstructive thrombus was only seen in one patient. Seven patients had enlarged and increased liver arteries already during the primary examination. Recanalization was achieved in two patients who received anticoagulative treatment and in one patient spontaneously. In the other eleven patients the liver arteries increased in caliber and number. DISCUSSION: The origin of the occlusion of the left portal vein is based on the adjustment to the postnatal hemodynamic situation in the umbilical recess. So far there is no evidence of the development of a permanent defect. For this reason and because of the possibility of spontaneous recanalization, treatment with anticoagulative drugs is hardly questioned. CONCLUSION: Occlusion of the left portal vein is mostly an incidental finding. It may appear without catheterizing the umbilical vessel and might be a reason for the "idiopathic lack" of the left portal vein.

Slow progression of a small Wilms' tumor.

We report the uncommon clinical course of a female with right-sided hemi-hyperplasia. At the age of 2 years and 2 months, a small spherical lesion of the right kidney was detected by ultrasound and magnetic resonance tomography. When the patient was 4 years and 7 months, the very slowly growing tumor was removed completely and diagnosed as intermediate risk stage I nephroblastoma. The case demonstrates that even small renal lesions require diagnostic work-up and adequate treatment.

[Smith-Lemli-Opitz syndrome--case report, diagnostics and therapeutic options]. / Das Smith-Lemli-Opitz Syndrom--Fallbericht, Diagnostik, therapeutische Optionen.

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal-recessive disease characterised by the combination of (foetal) growth retardation, mental retardation and a typical malformation pattern. In particular, the combination of cardiovascular defects, Y-shaped syndactyly of the 2 (nd) and 3 (rd) toes and a distinctive craniofacial appearance, often including a cleft palate, are characteristic of SLOS. The disease is caused by a defect in cholesterol synthesis resulting in a reduced or absent activity of the enzyme 7-dehydrocholesterol reductase (DHCR7). As a consequence, a lack of cholesterol and an increase of toxic cholesterol precursors are observed in the majority of patients. We report on a female patient who was born at 37 weeks of gestation and was both small and light for gestational age who displayed typical signs of SLOS. After the diagnosis had been confirmed, a therapeutic approach with oral substitution of cholesterol and the administration of simvastatin was initiated. In spite of this strategy, the patient died at the age of 12 weeks from the disease. Based on the case presented, we review and discuss current diagnostic and therapeutic options for patients with SLOS.

[Sonography of the optical nerve -- experience in 483 children]. / Die Sonographie des Nervus opticus -- Erfahrungen bei 483 Kindern.

INTRODUCTION: In case of increased intracranial pressure (IICP), the inflow of cerebrospinal fluid widens the space between the optic nerve (ON) itself and the surrounding dura mater leading to the sonographic appearance of increased diameter of the ON. The purpose of the study was to gain clinical experience in children and to determine (a) the mean values for patients without proven IICP and (b) pathologic values of those with proven IICP. MATERIALS AND METHODS: Ultrasound of the optic nerve was performed in 483 children with symptoms consistent with IICP, comprising 287 males and 196 females at an age ranging from 4 days to 24 years with a mean age of 7.5 + 5.1 years. The measured diameter of the ON of both eyes and the morphologic criteria concerning nerve sheath and papilla were evaluated retrospectively. RESULTS: Most of the investigated patients (n = 466) had no IICP as confirmed by neurological examination, EEG, sometimes CCT and/or MRI and clinical follow-up. The typical morphological findings in patients with normal intracranial pressure (ICP) were a clear and longitudinally extended demarcation of the ON with a well-delimited nerve sheath and without prominent papilla. The mean diameter of the ON in patients with normal ICP was 3.4 mm + 0.7 mm. In 17 patients with proven IICP, the mean diameter of the ON increased to 5.6 mm + 0.9 mm. Typically, the nerve sheath was indistinguishable from the hypoechoic ON, often but not invariably associated with a prominent papilla. In patients with IICP, the diameter of the ON alone matches the diameter of the ON plus nerve sheath in patients with normal ICP. CONCLUSION: IICP was detected with a high sensitivity by ultrasound using the diameter and the morphological criteria of an indistinguishable nerve sheath. A diameter of more than 4.5 mm is definitely pathologic and requires further investigation. Prominence of the papilla is an unreliable criterion for acute IICP.

[Hereditary fructose intolerance (HFI) as cause of isolated gamma GT rise in a 5-year old boy with hepatomegaly]. / Hereditäre Fruktoseintoleranz (HFI) als Ursache einer isolierten gamma GT-Erhöhung bei einem 5-jährigen Jungen mit Hepatomegalie.

The diagnosis of HFI is easily missed during childhood. It should be suspected in children presenting with hepatomegaly and an isolated increase in GGT. A carefully taken nutritional history forms the basis of the diagnosis of HFI which can be confirmed by molecular analysis with a sensitivity of > 95%. I.v. fructose tolerance tests and liver biopsies often can be omitted.

Crystallization of two related lectins from the legume plant Dolichos biflorus.

The seed lectin DBL and the related stem and leaves lectin DB58 of the tropical legume Dolichos biflorus were crystallized, as well as complexes of DBL with adenine and with GalNAc(alpha1-3)[Fuc(alpha1-2)]Gal. The different crystal forms of DBL diffract to about 2.8 A, while DB58 crystals diffract to 3.3 A.

Application of moderate hydrostatic pressure induces unit-cell changes in rhombohedral insulin.

2Co(2+)-insulin crystals were subjected to hydrostatic pressures of up to 30 bar in a nitrogen gas cell. Changes in the diffraction pattern occurred at pressures as low as 5 bar. Analysis with standard image-processing software showed unit-cell dimension changes resulting in reductions in volume of up to 2.6%.

New crystals of the histone core octamer diffract to higher resolution, 2.65 A.

A new crystal form of the histone octamer, crystallized in 1.6 M KCl, 1.6 M phosphate, diffracts to appreciably better than 2.6 A resolution. The crystals have space group P6(1) or P6(5) and lattice parameters a = b = 158.29, c = 103.27 A, alpha = beta = 90, gamma = 120 degrees, with one molecule per asymmetric unit. The new crystals promise to yield more detail of the histone basic domains and a higher resolution structure for the histone octamer.