B Semmekrot - Academia.edu (original) (raw)

Papers by B Semmekrot

Research paper thumbnail of Continuous versus bolus nasogastric tube feeding in premature neonates: Randomized controlled trial

Open Journal of Pediatrics, 2012

Background: Whether premature infants should be fed by bolus or continuous gavage feeding, is sti... more Background: Whether premature infants should be fed by bolus or continuous gavage feeding, is still a matter of debate. A recent Cochrane analysis revealed no difference. Study design and methods: We carried out a randomized controlled trial in premature infants on continuous versus bolus nasogastric tube feeding, to search for differences with respect to number of incidents, growth, and time to reach full oral feeding. In total, 110 premature neonates (gestational age 27-34 weeks) were randomly assigned to receive either continuous or bolus nasogastric tube feeding. Basic characteristics were comparable in both groups. Results: No significant difference in weight gain could be detected between the two groups, mean weight gain amounting 151.6 (108.9-194.3) and 152.4 (102.2-202.6) grams per week in the continuous and bolus group, respectively. No significant differences were found between both groups in the time needed to achieve full oral feeding (8 oral feedings per day), full oral feeding being achieved at day 31 (range 19-43) and day 29 (range 18-40) of life in the continuous and bolus group, respectively. We also found no significant differences in the number of "incident-days" (three or more incidents a day): 3.5 (0-9) versus 2.7 (0-6.5) days in the continuous and bolus group, respectively. Conclusion: No significant differences were found in weight gain, time to achieve full oral feeding and number of incident-days between preterm infants enterally fed by nasogastric tube, according to either the bolus or continuous method.

Research paper thumbnail of Less hypoglycaemias in single room maternity care

Open Journal of Pediatrics, 2013

Research paper thumbnail of Maternal homocysteine and related B vitamins as risk factors for low birthweight

American Journal of Obstetrics and Gynecology, 2010

Research paper thumbnail of Sudden infant death syndrome in child care settings in the Netherlands

Research paper thumbnail of Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

Nature, 2012

Hypertension affects one billion people and is a principal reversible risk factor for cardiovascu... more Hypertension affects one billion people and is a principal reversible risk factor for cardiovascular disease. A rare Mendelian syndrome, pseudohypoaldosteronism type II (PHAII), featuring hypertension, hyperkalemia, and metabolic acidosis, has revealed previously unrecognized physiology orchestrating the balance between renal salt reabsorption versus K + and H + excretion 1. We used exome sequencing to identify mutations in Kelch-like 3 (KLHL3) or Cullin 3 (CUL3) in 41 PHAII kindreds. KLHL3 mutations are either recessive or dominant, while CUL3 mutations are dominant and predominantly de novo. CUL3 and BTB-Kelch proteins such as KLHL3 are components of Cullin/RING E3 ligase complexes (CRLs) that ubiquitinate substrates bound to Kelch propeller domains 2-8. Dominant KLHL3 mutations are clustered in short segments within the Kelch propeller and BTB domains implicated in substrate 9 and Cullin 5 binding, respectively. Diverse CUL3 mutations all result in skipping of exon 9, producing an in-frame deletion. Because dominant KLHL3 and CUL3 mutations both phenocopy recessive loss-of-function KLHL3 mutations, they may abrogate ubiquitination of KLHL3 substrates. Disease features are reversed by thiazide diuretics, which inhibit the Na-Cl cotransporter (NCC) in the distal nephron of the kidney; KLHL3 and CUL3 are expressed in this location, suggesting a mechanistic link between KLHL3/CUL3 mutations, increased Na-Cl reabsorption, and disease pathogenesis. These findings demonstrate the utility of exome sequencing in disease gene identification despite combined complexities of locus heterogeneity, mixed models of transmission, and frequent de novo mutation, and establish a fundamental role for KLHL3/CUL3 in blood pressure, K + , and pH homeostasis.

Research paper thumbnail of Absent thumb, immune disorder, and congenital anemia presenting with hydrops fetalis

American Journal of Medical Genetics, 1992

A patient is described who presented with severe congenital anemia, hydrops fetalis, immune disor... more A patient is described who presented with severe congenital anemia, hydrops fetalis, immune disorder, and absent thumbs. No toxic, infectious, or metabolic cause was found to explain these symptoms. Immunologic and cytogenetic studies excluded several syndromes that combine radial ray anomalies with hematological involvement. After careful study of the literature, it is concluded that the disorder described here represents a new syndrome that can be added to a growing list of hematological-radial syndromes.

Research paper thumbnail of Continuous versus bolus nasogastric tube feeding in premature neonates: Randomized controlled trial

Open Journal of Pediatrics, 2012

Background: Whether premature infants should be fed by bolus or continuous gavage feeding, is sti... more Background: Whether premature infants should be fed by bolus or continuous gavage feeding, is still a matter of debate. A recent Cochrane analysis revealed no difference. Study design and methods: We carried out a randomized controlled trial in premature infants on continuous versus bolus nasogastric tube feeding, to search for differences with respect to number of incidents, growth, and time to reach full oral feeding. In total, 110 premature neonates (gestational age 27-34 weeks) were randomly assigned to receive either continuous or bolus nasogastric tube feeding. Basic characteristics were comparable in both groups. Results: No significant difference in weight gain could be detected between the two groups, mean weight gain amounting 151.6 (108.9-194.3) and 152.4 (102.2-202.6) grams per week in the continuous and bolus group, respectively. No significant differences were found between both groups in the time needed to achieve full oral feeding (8 oral feedings per day), full oral feeding being achieved at day 31 (range 19-43) and day 29 (range 18-40) of life in the continuous and bolus group, respectively. We also found no significant differences in the number of "incident-days" (three or more incidents a day): 3.5 (0-9) versus 2.7 (0-6.5) days in the continuous and bolus group, respectively. Conclusion: No significant differences were found in weight gain, time to achieve full oral feeding and number of incident-days between preterm infants enterally fed by nasogastric tube, according to either the bolus or continuous method.

Research paper thumbnail of Less hypoglycaemias in single room maternity care

Open Journal of Pediatrics, 2013

Research paper thumbnail of Maternal homocysteine and related B vitamins as risk factors for low birthweight

American Journal of Obstetrics and Gynecology, 2010

Research paper thumbnail of Sudden infant death syndrome in child care settings in the Netherlands

Research paper thumbnail of Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

Nature, 2012

Hypertension affects one billion people and is a principal reversible risk factor for cardiovascu... more Hypertension affects one billion people and is a principal reversible risk factor for cardiovascular disease. A rare Mendelian syndrome, pseudohypoaldosteronism type II (PHAII), featuring hypertension, hyperkalemia, and metabolic acidosis, has revealed previously unrecognized physiology orchestrating the balance between renal salt reabsorption versus K + and H + excretion 1. We used exome sequencing to identify mutations in Kelch-like 3 (KLHL3) or Cullin 3 (CUL3) in 41 PHAII kindreds. KLHL3 mutations are either recessive or dominant, while CUL3 mutations are dominant and predominantly de novo. CUL3 and BTB-Kelch proteins such as KLHL3 are components of Cullin/RING E3 ligase complexes (CRLs) that ubiquitinate substrates bound to Kelch propeller domains 2-8. Dominant KLHL3 mutations are clustered in short segments within the Kelch propeller and BTB domains implicated in substrate 9 and Cullin 5 binding, respectively. Diverse CUL3 mutations all result in skipping of exon 9, producing an in-frame deletion. Because dominant KLHL3 and CUL3 mutations both phenocopy recessive loss-of-function KLHL3 mutations, they may abrogate ubiquitination of KLHL3 substrates. Disease features are reversed by thiazide diuretics, which inhibit the Na-Cl cotransporter (NCC) in the distal nephron of the kidney; KLHL3 and CUL3 are expressed in this location, suggesting a mechanistic link between KLHL3/CUL3 mutations, increased Na-Cl reabsorption, and disease pathogenesis. These findings demonstrate the utility of exome sequencing in disease gene identification despite combined complexities of locus heterogeneity, mixed models of transmission, and frequent de novo mutation, and establish a fundamental role for KLHL3/CUL3 in blood pressure, K + , and pH homeostasis.

Research paper thumbnail of Absent thumb, immune disorder, and congenital anemia presenting with hydrops fetalis

American Journal of Medical Genetics, 1992

A patient is described who presented with severe congenital anemia, hydrops fetalis, immune disor... more A patient is described who presented with severe congenital anemia, hydrops fetalis, immune disorder, and absent thumbs. No toxic, infectious, or metabolic cause was found to explain these symptoms. Immunologic and cytogenetic studies excluded several syndromes that combine radial ray anomalies with hematological involvement. After careful study of the literature, it is concluded that the disorder described here represents a new syndrome that can be added to a growing list of hematological-radial syndromes.