Shashi XLMR syndrome: report of a second family

This report describes a family with mental retardation in two brothers. The pedigree is consistent with either X-linked mental retardation or autosomal recessive inheritance. The clinical features consist of coarse face, prominent lower lip, large testes, and obesity. This same constellation of findings was observed in a family with X-linked mental retardation (XLMR) reported by Shashi et al. [2000: Am J Hum Genet 66:469-479]. Furthermore, haplotype analysis was consistent with localization of the Shashi XLMR syndrome in Xq26-q27. Thus, the family likely represents a second occurrence of the Shashi XLMR syndrome.     

Bakteriologische,Serologische und Sero-Cytologische Untersuchungen am Durstenden und Fastenden Menschen

Zusammenfassung Es wird über bakteriologische, serologische und serocytologische Untersuchungen am durstenden und fastenden Menschen berichtet.Bei derSchrothschen Trockensemmelkur kam es zu einer Verschiebung der Darmflora nach der Gram-negativen Seite, trotzdem die gereichte Kost kohlehydratreich ist.Bei derFastenkur blieb die Flora mikroskopisch und kulturell gleich. Erst bei regelwidrigem Fastenbrechen mit großen Mengen Eiweiß wurden die sonst immer in den Aussaaten feststellbaren Kolonien von Bact. coli imperfectum durch typische, Milchzucker vergärende Colikeime verdrängt.Die bakteriologische Untersuchung der Rachenflora bei der Schrothschen Kur ergab ein Verschwinden der in der Vor- und Nachperiode sowie einem Teil des Hauptversuchs nachweisbaren Gram-negativen Catarrhalisflora und das Auftreten von vergrünenden Streptokokken.Die serocytologischen Untersuchungen zeigten, daß sowohl der Opsoningehalt wie die Freßtätigkeit der Phagocyten, unabhängig von den Opsoninschwankungen, durch die Durstkur anders als durch das Fasten beeinflußt werden. Die vonMorgulis vertretene Ansicht, daß die Schrothsche Trockensemmelkur auch nur eine Art Fastenkur ist, und durch Fasten dieselben Erfolge erzielt werden können, ist dadurch hinfällig.Die Untersuchungen über den Komplementgehalt des Serums sowie die Heterolysine gegen Hammelblut, die Isoagglutinine Anti A und B und die Heteroagglutinine gegen Kaninchenblut geben ein Bild von der außerordentlichen Konstanz, mit der diese Antikörper, auch unter schwierigen Verhältnissen, erhalten werden. Dieser Befund bei der Schrothschen Kur entspricht den vonFischer bei derselben Versuchsperson anläßlich einer Fastenkur erzielten Ergebnissen.     

Primary Amine‐Initiated Polymerizations of Alanine‐NCA and Sarcosine‐NCA

Summary: Sarcosine‐N‐carboxyanhydride (Sar‐NCA), L ‐alanine‐NCA and D,L ‐alanine‐NCA were polymerized with benzylamine as initiator in three different solvents: dichloromethane (CH₂Cl₂), 1,4‐dioxane and dimethylformamide (DMF). The isolated polyaminoacids were characterized by ¹H NMR spectroscopy and MALDI‐TOF mass spectrometry. High conversions and degrees of polymerization s close to the monomer‐initiator (M/I) ratios were found for all polypeptides. For polysarcosine which was soluble under the given reaction conditions a narrow monomodal frequency distribution was found. In contrast, a broad frequency distribution was observed, when L ‐alanine NCA was polymerized in dioxane and DMF. These results were attributed to a partial precipitation of oligopeptides in the β‐sheet structure, which reduces the reactivity of endgroups for steric reasons. The polymerizations of D,L ‐alanine‐NCA showed features in between the extremes of Sar‐NCA and L ‐Ala‐NCA.

Schematic illustration of the secondary structures formed in a primary amine initiated polymerization of L ‐Ala‐NCA.     

Selective effects of beta-endorphin infused into the hypothalamus, preoptic area and bed nucleus of the stria terminalis on the sexual and ingestive behaviour of male rats

beta-Endorphin was infused bilaterally into the medial preoptic area-anterior hypothalamic continuum at doses of 5, 10 and 40 pmol each side. The highest dose selectively abolished mounting, intromitting and ejaculating in sexually experienced male rats paired with an oestrous female. Males infused with 40 pmol beta-endorphin still followed the female, investigated her anogenital region and other parts of her body, but made abortive attempts to mount. A dose of 5 pmol beta-endorphin had no effect, but 10 pmol proved partially effective. The same males, in other tests, were allowed to ingest a highly preferred, sweet, non-calorific solution (acesulfame-K) in the absence of a female. beta-Endorphin infusions (up to 40 pmol) into the same area of the hypothalamus had no effect on this behaviour. Control males allowed simultaneous access both to an oestrous female and to the sweet solution copulated normally but reduced their ingestive behaviour, despite there being sufficient time during tests for both to occur. beta-Endorphin (40 pmol) infused into the preoptic area-anterior hypothalamic continuum under these conditions suppressed sexual interaction, but ingestion of acesulfame-K increased to values observed when the female was absent. beta-Endorphin infused into neighbouring areas of the brain had different behavioural effects. Sexual behaviour was not inhibited, and ingestion of acesulfame-K was unaltered, when beta-endorphin was infused either into the bed nucleus of the stria terminalis or the rostral ventromedial hypothalamus. However, infusions of cholecystokinin-8 into the ventromedial hypothalamus suppressed acesulfame-K ingestion in most animals, showing that the cannulae were placed in an area regulating ingestive behaviour. The inhibition of sexual behaviour after preoptic area-anterior hypothalamic continuum infusions of beta-endorphin was prevented by either pretreating rats with 1 mg/kg naloxone intraperitoneally, or by infusing a putative delta opiate receptor blocker (0.5 pmols ICI 174864) into the preoptic area-anterior hypothalamic continuum 5 min prior to beta-endorphin treatment. ICI 174864 administered alone significantly increased mount rate and reduced the post-ejaculatory refractory period in copulating males. These experiments suggest that there is both neurochemical and neuroanatomical specificity relating beta-endorphin to sexual behaviour in the male rat.     

Rapid tracheal intubation with vecuronium: the priming principle

Following the administration of a single 0.1 mg/kg dose of vecuronium bromide, satisfactory conditions for tracheal intubation developed in 156 +/- 12 s (mean +/- SEM), and the clinical duration of the initial dose was 36 +/- 2 min. When the initial dose of vecuronium was administered in two increments, a 0.015 mg/kg "priming" dose, followed 6 min later by a 0.050 mg/kg "intubating" dose, intubation time decreased to 61 +/- 3 s and clinical duration to 21 +/- 1 min. The priming dose that had no unpleasant effect on premedicated, awake patients could be administered 3-4 min before, and the intubating dose 2 to 3 min after induction of anesthesia. With the described technique, comparable intubating conditions could be obtained just as rapidly with vecuronium as with succinylcholine chloride, without subjecting the patients to the side effects of and the complications occasionally encountered with succinylcholine. An added advantage of the use of a priming dose is that it will reveal undiagnosed, pathologic, or idiopathic increase of sensitivity to nondepolarizing muscle relaxants.     

Causes of rearthrotomies of the knee joint

Report on 178 rearthrotomies of the knee joint in 158 patients. Most of these rearthrotomies became necessary subsequent to meniscus operations. A review of the literature shows that these are mainly persisting or recurring complaints appearing usually under the overall pattern of "irritable knee". The principal causes were found to be leftover meniscus residues; on rarer occasions degenerative meniscus regenerates were found, or other causes such as floating cartilage, damaged cartilage of the patella, and instabilities of the condyles and of the ligaments.     

Risks in Management of Enteral Nutrition in Intensive Care Units: A Literature Review and Narrative Synthesis

Critically ill patients in the intensive care unit (ICU) have a high risk of developing malnutrition, and this is associated with poorer clinical outcomes. In clinical practice, nutrition, including enteral nutrition (EN), is often not prioritized. Resulting from this, risks and safety issues for patients and healthcare professionals can emerge. The aim of this literature review, inspired by the Rapid Review Guidebook by Dobbins, 2017, was to identify risks and safety issues for patient safety in the management of EN in critically ill patients in the ICU. Three databases were used to identify studies between 2009 and 2020. We assessed 3495 studies for eligibility and included 62 in our narrative synthesis. Several risks and problems were identified: No use of clinical assessment or screening nutrition assessment, inadequate tube management, missing energy target, missing a nutritionist, bad hygiene and handling, wrong time management and speed, nutritional interruptions, wrong body position, gastrointestinal complication and infections, missing or not using guidelines, understaffing, and lack of education. Raising awareness of these risks is a central aspect in patient safety in ICU. Clinical experts can use a checklist with 12 identified top risks and the recommendations drawn up to carry out their own risk analysis in clinical practice.