Background
Avoiding the use of nasogastric tubes (NGTs) is recommended after colorectal surgery but there is no consensus on intraoperative gastric decompression using NGTs during colorectal surgery. ...The objective was to assess the effect of avoiding insertion of NGTs during colorectal surgery for the recovery of gastrointestinal (GI) functions.
Method
1561 patients undergoing colorectal surgery, for whom information on NGT use was available, were included in this retrospective analysis and propensity score analysis of the prospective GRACE Audit database. Patients who did and did not have an NGT during surgery were compared.
Results
Among the study population of 1561 patients, 696 patients were matched to correct baseline differences between groups. The no-NGT group significantly improved GI motility impairment (e.g., less postoperative nausea OR = 0.59; CI 95%: 0.42–0.84 and a better tolerance of early feeding OR = 2.07; CI 95%: 1.33–3.22). Such an association was also highlighted for reduced postoperative morbidity OR = 0.60; CI 95%: 0.43–0.83, and especially pulmonary complications OR = 0.08; CI 95%: 0.01–0.59, or parietal complications OR = 0.29; CI 95%: 0.09–0.87. The risk of postoperative ileus was not significantly reduced in the no-NGT group OR = 0.67; CI 95%: 0.43–1.06.
Conclusion
No NGT insertion during colorectal surgery is safe and could improve postoperative GI function recovery.
•Parkinson's disease in Sub Saharan Africa is likely underdiagnosed.•PRKN mutations were found in a parkinsonism kindred from Kilimanjaro, Tanzania.•The PRKN gene likely explains less parkinsonism in ...Sub Saharan Africa than elsewhere.•The East African region is as yet undiscovered in terms of Parkinson's genetics.
•The first patient with genetically confirmed Becker muscular dystrophy in Tanzania.•The patient only presented in middle age, when a complication occurred after a fall.•Becker muscular dystrophy ...occurs in Africa but myotonic dystrophy is excessively rare.
In African neurological practice, muscle disorders are either underdiagnosed or underrepresented. This may in part be due to the large burden of other more common neurological disorders. In this report we describe the first Tanzanian patient with genetically confirmed Becker muscular dystrophy. His phenotype and genotype were compatible with elsewhere in the world. Remarkably, this patient reported his progressive weakness of the legs with difficulty in walking only after a fall. We demonstrate that muscular dystrophies occur in sub-Saharan Africa. Neurologists must however be aware that patients are likely to delay seeking medical care for muscle disorders.
We present a neutron diffraction study of the transition between low-density and high-density amorphous ice (LDA and HDA, respectively) under pressure at approximately 0.3 GPa, at 130 K. All the ...intermediate diffraction patterns can be accurately decomposed into a linear combination of the patterns of pure LDA and HDA. This progressive transformation of one distinct phase to another, with phase coexistence at constant pressure and temperature, gives direct evidence of a classical first-order transition. In situ Raman measurements and visual observation of the reverse transition strongly support these conclusions, which have implications for models of water and the proposed second critical point in the undercooled region of liquid water.
The p63 gene in EEC and other syndromes Brunner, H G; Hamel, B C J; van Bokhoven, H
Journal of medical genetics,
06/2002, Letnik:
39, Številka:
6
Journal Article
Recenzirano
Odprti dostop
Several autosomal dominantly inherited human syndromes have recently been shown to result from mutations in the p63 gene. These syndromes have various combinations of limb malformations fitting the ...split hand-split foot spectrum, orofacial clefting, and ectodermal dysplasia. The p63 syndrome family includes the EEC syndrome, AEC syndrome, ADULT syndrome, limb-mammary syndrome, and non-syndromic split hand/foot malformation. The pattern of heterozygous mutations is distinct for each of these syndromes. The functional effects on the p63 proteins also vary between syndromes. In all of these syndromes, the mutation appears to have both dominant negative and gain of function effects rather than causing a simple loss of function.
p63 mutations have been associated with EEC syndrome (
ectrodactyly,
ectodermal dysplasia, and
cleft lip/palate), as well as with nonsyndromic split hand–split foot malformation (SHFM). We performed
...p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by ectrodactyly, cleft palate, and mammary-gland abnormalities. The results differed for these three conditions.
p63 gene mutations were detected in almost all (40/43) individuals affected with EEC syndrome. Apart from a frameshift mutation in exon 13, all other EEC mutations were missense, predominantly involving codons 204, 227, 279, 280, and 304. In contrast,
p63 mutations were detected in only a small proportion (4/35) of patients with isolated SHFM.
p63 mutations in SHFM included three novel mutations: a missense mutation (K193E), a nonsense mutation (Q634X), and a mutation in the 3′ splice site for exon 5. The fourth SHFM mutation (R280H) in this series was also found in a patient with classical EEC syndrome, suggesting partial overlap between the EEC and SHFM mutational spectra. The original family with LMS (van Bokhoven et al.
1999) had no detectable
p63 mutation, although it clearly localizes to the
p63 locus in 3q27. In two other small kindreds affected with LMS, frameshift mutations were detected in exons 13 and 14, respectively. The combined data show that
p63 is the major gene for EEC syndrome, and that it makes a modest contribution to SHFM. There appears to be a genotype-phenotype correlation, in that there is a specific pattern of missense mutations in EEC syndrome that are not generally found in SHFM or LMS.
► Attentional set-shifting ability in FXS is investigated with the intra/extra dimensional set-shifting paradigm (IED). ► A novel method for scoring IED stage errors is employed. ► Repetitive, ...maintenance, and discrimination errors were distinguished. ► FXS males showed repetitive behavior during reversal learning associated with single-dimensional stimulus configurations. ► FXS males made more distraction errors in multi-dimensional stages, suggesting enhanced sensitivity to irrelevant stimuli.
The ability to flexibly adapt to the changing demands of the environment is often reported as a core deficit in fragile X syndrome (FXS). However, the cognitive processes that determine this attentional set-shifting deficit remain elusive. The present study investigated attentional set-shifting ability in fragile X syndrome males with the well-validated intra/extra dimensional set-shifting paradigm (IED) which offers detailed assessment of rule learning, reversal learning, and attentional set-shifting ability within and between stimulus dimensions. A novel scoring method for IED stage errors was employed to interpret set-shifting failure in terms of repetitive decision-making, distraction to irrelevance, and set-maintenance failure. Performance of FXS males was compared to typically developing children matched on mental age, adults matched on chronological age, and individuals with Down syndrome matched on both mental and chronological age. Results revealed that a significant proportion of FXS males already failed prior to the intra-dimensional set-shift stage, whereas all control participants successfully completed the stages up to the crucial extra-dimensional set-shift. FXS males showed a specific weakness in reversal learning, which was characterized by repetitive decision-making during the reversal of newly acquired stimulus–response associations in the face of simple stimulus configurations. In contrast, when stimulus configurations became more complex, FXS males displayed increased distraction to irrelevant stimuli. These findings are interpreted in terms of the cognitive demands imposed by the stages of the IED in relation to the alleged neural deficits in FXS.
Array-based comparative genomic hybridization has proven to be successful in the identification of genetic defects in disorders involving mental retardation. Here, we studied a patient with learning ...disabilities, retinal dystrophy, and short stature. The family history was suggestive of an X-linked contiguous gene syndrome. Hybridization of full-coverage X-chromosomal bacterial artificial chromosome arrays revealed a deletion of ∼1 Mb in Xp11.3, which harbors
RP2, SLC9A7, CHST7, and two hypothetical zinc-finger genes,
ZNF673 and
ZNF674. These genes were analyzed in 28 families with nonsyndromic X-linked mental retardation (XLMR) that show linkage to Xp11.3; the analysis revealed a nonsense mutation, p.E118X, in the coding sequence of
ZNF674 in one family. This mutation is predicted to result in a truncated protein containing the Krüppel-associated box domains but lacking the zinc-finger domains, which are crucial for DNA binding. We characterized the complete
ZNF674 gene structure and subsequently tested an additional 306 patients with XLMR for mutations by direct sequencing. Two amino acid substitutions, p.T343M and p.P412L, were identified that were not found in unaffected individuals. The proline at position 412 is conserved between species and is predicted by molecular modeling to reduce the DNA-binding properties of ZNF674. The p.T343M transition is probably a polymorphism, because the homologous
ZNF674 gene in chimpanzee has a methionine at that position.
ZNF674 belongs to a cluster of seven highly related zinc-finger genes in Xp11, two of which (
ZNF41 and
ZNF81) were implicated previously in XLMR. Identification of
ZNF674 as the third XLMR gene in this cluster may indicate a common role for these zinc-finger genes that is crucial to human cognitive functioning.
We have identified a deletion of 3 base pairs in the dystrophin gene (DMD), c.9711_9713del, in a family with nonspecific X-linked intellectual disability (ID) by sequencing of the exons of 86 known ...X-linked ID genes. This in-frame deletion results in the deletion of a single-amino-acid residue, Leu3238, in the brain-specific isoform Dp71 of dystrophin. Linkage analysis supported causality as the mutation was present in the 7.6 cM linkage interval on Xp22.11-Xp21.1 with a maximum positive LOD score of 2.41 (MRX85 locus). Molecular modeling predicts that the p.(Leu3238del) deletion results in the destabilization of the C-terminal domain of dystrophin and hence reduces the ability to interact with β-dystroglycan. Correspondingly, Dp71 protein levels in lymphoblastoid cells from the index patient are 6.7-fold lower than those in control cell lines (P=0.08). Subsequent determination of the creatine kinase levels in blood of the index patient showed a mild but significant elevation in serum creatine kinase, which is in line with impaired dystrophin function. In conclusion, we have identified the first DMD mutation in Dp71 that results in ID without muscular dystrophy.
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