Contiguous ABCD1 DXS1357E deletion syndrome: Report of an autopsy case

Contiguous ABCD1 DXS1357E deletion syndrome (CADDS) is a contiguous deletion syndrome involving the ABCD1 and DXS1357E/BAP31 genes on Xq28. Although ABCD1 is responsible for X‐linked adrenoleukodystrophy (X‐ALD), its phenotype differs from that of CADDS, which manifests with many features of Zellweger syndrome (ZS), including severe growth and developmental retardation, liver dysfunction, cholestasis and early infantile death. We report here the fourth case of CADDS, in which a boy had dysmorphic features, including a flat orbital edge, hypoplastic nose, micrognathia, inguinal hernia, micropenis, cryptorchidism and club feet, all of which are shared by ZS. The patient achieved no developmental milestones and died of pneumonia at 8 months. Biochemical studies demonstrated abnormal metabolism of very long chain fatty acids, which was higher than that seen in X‐ALD. Immunocytochemistry and Western blot showed the absence of ALD protein (ALDP) despite the presence of other peroxisomal proteins. Pathological studies disclosed a small brain with hypomyelination and secondary hypoxic‐ischemic changes. Neuronal heterotopia in the white matter and leptomeningeal glioneuronal heterotopia indicated a neuronal migration disorder. The liver showed fibrosis and cholestasis. The thymus and adrenal glands were hypoplastic. Array comparative genomic hybridization (CGH) analysis suggested that the deletion was a genomic rearrangement in the 90‐kb span starting in DXS1357E/BACP31 exon 4 and included ABCD1, PLXNB3, SRPK3, IDH3G and SSR4, ending in PDZD4 exon 8. Thus, the absence of ALDP, when combined with defects in the B‐cell antigen receptor associated protein 31 (BAP31) and other factors, severely affects VLCFA metabolism on peroxisomal functions and produces ZS‐like pathology.     

Reduction in amino-acid-induced anti-hypothermic effects during general anesthesia in ovariectomized rats with progesterone replacement

Purpose

The aim of the present study was to determine whether the ovarian hormones, estrogen and progesterone, had different influences on amino-acid-induced anti-hypothermic effects during general anesthesia.

Methods

Ovariectomized Sprague–Dawley female rats were divided into four groups: those administered 17β-estradiol plus saline or an amino acid mixture (E2-Sal and E2-AA, respectively) and progesterone plus saline or an amino acid mixture (P-Sal and P-AA, respectively). Five weeks after ovariectomy, rats were given either E2 or P and then administered either Sal or AA solution for 180 min during anesthesia with sevoflurane. Rectal temperatures were measured.

Results

Rectal temperatures were significantly higher in the E2-AA group than in the E2-Sal group 165 and 180 min after initiating the infusion of the test solutions. However, no significant differences were observed between the P-treated groups. The phosphorylation of 4E-BP1 and S6K1 was significantly greater in the E2-AA group than in the E2-Sal group (P < 0.05, P < 0.001, respectively). In contrast, the phosphorylation of 4E-BP1 was significantly lower in the P-AA group than in the P-Sal group (P < 0.001).

Conclusions

These results suggest that progesterone reduces amino-acid-induced anti-hypothermic effects during general anesthesia.

     

Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo‐obstruction in a neonate

A female infant born at 36 weeks gestational age with birthweight 2135 g, and who developed respiratory disorder, hyperlactacidemia and hypertrophic cardiomyopathy after birth, was admitted to hospital at 3 days of age. After admission, bilious emesis, abdominal distention, and passage disorder of the gastrointestinal tract were resistant to various drugs. Exploratory laparotomy was performed at 93 days of age, but no organic lesions were identified and normal Meissner/Auerbach nerve plexus was confirmed, which led to a clinical diagnosis of chronic intestinal pseudo‐obstruction (CIPO). She was diagnosed with mitochondrial respiratory chain complex IV deficiency on histopathology of the abdominal rectus muscle and enzyme activity measurement. This is the first report of a neonate with mitochondrial respiratory chain complex deficiency with intractable CIPO. CIPO can occur in neonates with mitochondrial respiratory chain disorder, necessitating differential diagnosis from Hirschsprung disease.     

Inactivation of MAPK in epididymal fat and amelioration of triglyceride secretion by injection of GRK2 siRNA in ob/ob mice

Naunyn-Schmiedeberg's Archives of Pharmacology - Abnormal G protein-coupled receptor kinase 2 (GRK2) accumulation has a crucial role in the development of insulin resistance and diabetes....     

The usefulness of day-service in maintaining general nutritional status in elderly Japanese: a longitudinal study

Day-service, commuting service for elderly people requiring care at home, is one healthcare option in Japan. To date, however, there exist no studies that have examined the effects of day-service use on health outcomes in Japan. The objective of the present longitudinal study was to determine whether there is an association between day-service use and various physical and mental health outcomes in elderly people requiring care. The subjects were 61 elderly persons who required between 25 and 49 min of assistance per day and used long-term care insurance. Measurements included demographic characteristics, activities of daily living, frequency of day-service use, body weight, height, grip strength, thigh muscle volume, degree of depression (Geriatric Depression Scale), the mini-mental state examination, and serum albumin and blood hemoglobin levels in the baseline and follow-up surveys two years later. In the day-service user group, the mean changes in serum albumin concentrations using day-service once, twice and three < or = times/week were -0.2, -0.3, and 0 g/dl, respectively, and the mean changes in blood hemoglobin were -0.7, -0.5, and 0.2 g/dl, respectively. The two-year change in serum albumin concentrations was less (p = 0.024) in subjects using day-service "three < or = times" (0 g/dl) than "twice" (-0.3 g/dl). The two-year change in blood hemoglobin was also less (p = 0.043) in subjects using day-service "three < or = times" (0.2 g/dl) than "twice" (-0.5 g/dl). The present study has shown that frequent use of day-service is useful in maintaining general nutritional status in elderly people.     

An Operating Microscope with Higher Magnification and Higher Resolution for Cerebral Aneurysm Surgery: Preliminary Experience—Technical Note

We describe a higher magnifying power operating microscope system to improve one method of high-quality microsurgical clipping for cerebral aneurysm in some cases. This higher magnification is achieved by a new lens design in the optical system, which makes the image of the object very clear at high magnifications (distinctiveness of 7 μm). This higher-resolution operating microscope system provides the surgeon with higher-magnified images (at the maximum of more than 30× magnifications as each working distance) in the operating field. The magnifications can be changed from low power (2.9×) to high power (62.0×) depending on the circumstances in a given procedure. We have used this operating microscope system on 11 patients with microsurgical clipping for cerebral aneurysms. Microsurgical treatment could be performed safely and precisely. All aneurysms were treated without any technical complications. We think that the use of this microscope would have potential benefits for microsurgical treatment for cerebral aneurysms because of better visualization.     

Retrolaminar versus epidural block for postoperative analgesia after minor video-assisted thoracic surgery: a retrospective,matched, non-inferiority study

BackgroundThe role of thoracic epidural analgesia (TEA) for postoperative analgesia after video-assisted thoracic surgery (VATS) is still controversial. Some studies have reported the efficacy of ultrasound-guided retrolaminar block (RLB) for the postoperative management of pain after chest wall surgery. The purpose of this study was to compare the postoperative analgesic efficacy and adverse effects of ultrasound-guided RLB with those of TEA in patients undergoing minor VATS procedures.MethodsA total of 192 relevant records of patients were enrolled in this study. We reviewed electronic medical records of patients undergoing minor VATS procedures under general anesthesia. The primary outcome was the median differences in the numerical rating scale (NRS) scores during rest between the groups at the morning of postoperative day 1 (POD 1m). A propensity-matched analysis incorporating preoperative variables was used to compare the efficacy of postoperative analgesia in two groups.ResultsOverall, 94 patients were identified for analysis. Propensity score matching resulted in 47 patients in each group. There were no significant differences in the NRS scores between the two groups. The median differences in NRS scores during rest between the two groups at POD 1m were under 1, which indicates non-inferiority of RLB. There were no significant differences in the incidence of adverse effects and rescue dose of analgesic consumption between the two groups.ConclusionsThe analgesic effects of continuous ultrasound-guided RLB were non inferior to those of TEA for minor VATS procedures.